diff --git a/src/ontology/hp-edit.owl b/src/ontology/hp-edit.owl index 4e2e40729..122d1f830 100644 --- a/src/ontology/hp-edit.owl +++ b/src/ontology/hp-edit.owl @@ -17958,7 +17958,6 @@ Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) -Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) @@ -18029,12 +18028,6 @@ AnnotationAssertion(rdfs:label AnnotationAssertion(rdfs:comment "Core clinical terminology") SubAnnotationPropertyOf( ) -# Annotation Property: (layperson term) - -AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(rdfs:label "layperson term") -SubAnnotationPropertyOf( ) - # Annotation Property: (discarded/obsoleted synonym) AnnotationAssertion(dc:date "2018-05-05T19:01:17Z"^^xsd:dateTime) @@ -18189,7 +18182,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-02-27T02:20:00Z") AnnotationAssertion( "UMLS:C4025901") -AnnotationAssertion(Annotation( ) "Abnormality of body height") +AnnotationAssertion(Annotation( ) "Abnormality of body height") AnnotationAssertion( "HP:0000002") AnnotationAssertion(rdfs:label "Abnormality of body height") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18292,12 +18285,12 @@ AnnotationAssertion(Annotation( "HP:0000094") AnnotationAssertion( "SNOMEDCT_US:197927001") AnnotationAssertion( "UMLS:C0262655") -AnnotationAssertion(Annotation( ) "Frequent urinary tract infections") +AnnotationAssertion(Annotation( ) "Frequent urinary tract infections") AnnotationAssertion(Annotation( ) "Recurrent UTIs") -AnnotationAssertion(Annotation( ) "Repeated bladder infections") -AnnotationAssertion(Annotation( ) "Repeated urinary tract infections") -AnnotationAssertion(Annotation( ) "Urinary tract infections") -AnnotationAssertion(Annotation( ) Annotation( ) "Urinary tract infections, recurrent") +AnnotationAssertion(Annotation( ) "Repeated bladder infections") +AnnotationAssertion(Annotation( ) "Repeated urinary tract infections") +AnnotationAssertion(Annotation( ) "Urinary tract infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Urinary tract infections, recurrent") AnnotationAssertion( "HP:0000010") AnnotationAssertion(rdfs:comment "The urinary tract comprises the kidneys, ureters, a bladder, and a urethra.") AnnotationAssertion(rdfs:label "Recurrent urinary tract infections") @@ -18311,7 +18304,7 @@ AnnotationAssertion( "SNOMEDCT_US:397732007") AnnotationAssertion( "SNOMEDCT_US:398064005") AnnotationAssertion( "UMLS:C0005697") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of bladder control due to nervous system injury") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of bladder control due to nervous system injury") AnnotationAssertion( "HP:0000011") AnnotationAssertion(rdfs:comment "Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause.") AnnotationAssertion(rdfs:label "Neurogenic bladder") @@ -18324,8 +18317,8 @@ AnnotationAssertion( "UMLS:C0085606") AnnotationAssertion( "UMLS:C3544092") AnnotationAssertion( "UMLS:C4020898") -AnnotationAssertion(Annotation( ) Annotation( ) "Overactive bladder") -AnnotationAssertion(Annotation( ) "Urinary urgency") +AnnotationAssertion(Annotation( ) Annotation( ) "Overactive bladder") +AnnotationAssertion(Annotation( ) "Urinary urgency") AnnotationAssertion( "Overactive bladder syndrome") AnnotationAssertion( "Urgency frequency syndrome") AnnotationAssertion( "HP:0000012") @@ -18342,8 +18335,8 @@ AnnotationAssertion( "UMLS:C0266399") AnnotationAssertion( "Hypoplastic uterus") AnnotationAssertion( "Rudimentary uterus") -AnnotationAssertion(Annotation( ) Annotation( ) "Small uterus") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Small uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped uterus") AnnotationAssertion( "HP:0000013") AnnotationAssertion(rdfs:label "Hypoplasia of the uterus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18401,7 +18394,7 @@ SubClassOf( ) "Difficulty in beginning the process of urination.") AnnotationAssertion( "SNOMEDCT_US:5972002") AnnotationAssertion( "UMLS:C0152032") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty with flow") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty with flow") AnnotationAssertion( "HP:0000019") AnnotationAssertion(rdfs:label "Urinary hesitancy") SubClassOf( ) @@ -18415,7 +18408,7 @@ AnnotationAssertion( "SNOMEDCT_US:165232002") AnnotationAssertion( "UMLS:C0042024") AnnotationAssertion( "Bladder incontinence") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of bladder control") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of bladder control") AnnotationAssertion( "HP:0000020") AnnotationAssertion(rdfs:comment "Urinary incontinence can be defined as the complaint of any involuntary leakage of urine.") AnnotationAssertion(rdfs:label "Urinary incontinence") @@ -18464,7 +18457,7 @@ AnnotationAssertion(Annotation( "MSH:D011472") AnnotationAssertion( "SNOMEDCT_US:9713002") AnnotationAssertion( "UMLS:C0033581") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the prostate") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the prostate") AnnotationAssertion( "HP:0000024") AnnotationAssertion(rdfs:label "Prostatitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -18486,7 +18479,7 @@ AnnotationAssertion( "MSH:D005058") AnnotationAssertion( "SNOMEDCT_US:48723006") AnnotationAssertion( "UMLS:C0151721") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased function of male gonad") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased function of male gonad") AnnotationAssertion( "HP:0000026") AnnotationAssertion(rdfs:label "Male hypogonadism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18500,7 +18493,7 @@ AnnotationAssertion( "SNOMEDCT_US:425558002") AnnotationAssertion( "SNOMEDCT_US:48188009") AnnotationAssertion( "UMLS:C0004509") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent sperm in semen") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent sperm in semen") AnnotationAssertion( "HP:0000027") AnnotationAssertion(rdfs:label "Azoospermia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -18515,8 +18508,8 @@ AnnotationAssertion( "SNOMEDCT_US:204878001") AnnotationAssertion( "UMLS:C0010417") AnnotationAssertion(Annotation( ) "Cryptorchism") -AnnotationAssertion(Annotation( ) "Undescended testes") -AnnotationAssertion(Annotation( ) "Undescended testis") +AnnotationAssertion(Annotation( ) "Undescended testes") +AnnotationAssertion(Annotation( ) "Undescended testis") AnnotationAssertion( "HP:0000028") AnnotationAssertion(rdfs:comment "The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment.") AnnotationAssertion(rdfs:label "Cryptorchidism") @@ -18528,7 +18521,7 @@ SubClassOf( ) "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.") AnnotationAssertion( "SNOMEDCT_US:17585008") AnnotationAssertion( "UMLS:C0156312") -AnnotationAssertion(Annotation( ) Annotation( ) "Testicular degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Testicular degeneration") AnnotationAssertion( "HP:0000029") AnnotationAssertion(rdfs:label "Testicular atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18571,7 +18564,7 @@ SubClassOf( ) "Ambiguous genitalia in an individual with XY genetic gender.") AnnotationAssertion( "UMLS:C4021823") -AnnotationAssertion(Annotation( ) "Ambiguous genitalia in males") +AnnotationAssertion(Annotation( ) "Ambiguous genitalia in males") AnnotationAssertion( "HP:0000033") AnnotationAssertion(rdfs:label "Ambiguous genitalia, male") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18598,7 +18591,7 @@ SubClassOf( ) "An anomaly of the testicle (the male gonad).") AnnotationAssertion( "SNOMEDCT_US:55631001") AnnotationAssertion( "UMLS:C0266423") -AnnotationAssertion(Annotation( ) "Abnormality of the testis") +AnnotationAssertion(Annotation( ) "Abnormality of the testis") AnnotationAssertion( "Anomaly of the testes") AnnotationAssertion( "HP:0000035") AnnotationAssertion(rdfs:label "Abnormal testis morphology") @@ -18609,7 +18602,7 @@ SubClassOf( "Abnormality of the male external sex organ.") AnnotationAssertion( "UMLS:C4025896") -AnnotationAssertion(Annotation( ) "Abnormality of the penis") +AnnotationAssertion(Annotation( ) "Abnormality of the penis") AnnotationAssertion( "HP:0000036") AnnotationAssertion(rdfs:label "Abnormal penis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18642,8 +18635,8 @@ SubClassOf( "Penile length more than 2 SD above the mean for age.") AnnotationAssertion( "SNOMEDCT_US:88673001") AnnotationAssertion( "UMLS:C0269011") -AnnotationAssertion(Annotation( ) "Enlarged penis") -AnnotationAssertion(Annotation( ) "Long penis") +AnnotationAssertion(Annotation( ) "Enlarged penis") +AnnotationAssertion(Annotation( ) "Long penis") AnnotationAssertion( "HP:0000040") AnnotationAssertion(rdfs:comment "Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans.") AnnotationAssertion(rdfs:label "Long penis") @@ -18664,7 +18657,7 @@ SubClassOf( ) "Lack of external genitalia in a male or female individual.") AnnotationAssertion( "UMLS:C1848869") -AnnotationAssertion(Annotation( ) "Absent external genitalia") +AnnotationAssertion(Annotation( ) "Absent external genitalia") AnnotationAssertion( "HP:0000042") AnnotationAssertion(rdfs:label "Absent external genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18702,8 +18695,8 @@ AnnotationAssertion( "UMLS:C0431659") AnnotationAssertion( "Hypoplastic scrotum") AnnotationAssertion( "Scrotal hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Smaller than typical growth of scrotum") -AnnotationAssertion(Annotation( ) "Underdeveloped scrotum") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Smaller than typical growth of scrotum") +AnnotationAssertion(Annotation( ) "Underdeveloped scrotum") AnnotationAssertion( "HP:0000046") AnnotationAssertion(rdfs:comment "A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum.") AnnotationAssertion(rdfs:label "Small scrotum") @@ -18728,7 +18721,7 @@ SubClassOf( ) Annotation( "PMID:23650202") "Midline indentation or cleft of the scrotum.") AnnotationAssertion( "SNOMEDCT_US:236780002") AnnotationAssertion( "UMLS:C0341787") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of scrotum") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of scrotum") AnnotationAssertion( "Scrotal cleft") AnnotationAssertion( "HP:0000048") AnnotationAssertion(rdfs:comment "A testis may or may not be present in each half of the scrotum.") @@ -18741,7 +18734,7 @@ SubClassOf( ) Annotation( "PMID:23650202") "Superior margin of the scrotum superior to the base of the penis.") AnnotationAssertion( "UMLS:C1858539") AnnotationAssertion( "Overriding scrotum") -AnnotationAssertion(Annotation( ) Annotation( ) "Scrotum surrounds penis") +AnnotationAssertion(Annotation( ) Annotation( ) "Scrotum surrounds penis") AnnotationAssertion( "HP:0000049") AnnotationAssertion(rdfs:comment "A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead.") AnnotationAssertion(rdfs:label "Shawl scrotum") @@ -18754,8 +18747,8 @@ AnnotationAssertion( "HP:0008721") AnnotationAssertion( "UMLS:C1852534") AnnotationAssertion( "Hypoplastic male genitalia") -AnnotationAssertion(Annotation( ) "Small male external genitalia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped male genitalia") +AnnotationAssertion(Annotation( ) "Small male external genitalia") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped male genitalia") AnnotationAssertion( "HP:0000050") AnnotationAssertion(rdfs:label "Hypoplastic male external genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18786,7 +18779,7 @@ SubClassOf( ) "The presence of abnormally large testes.") AnnotationAssertion( "UMLS:C1263023") AnnotationAssertion( "Large testicles") -AnnotationAssertion(Annotation( ) "Large testis") +AnnotationAssertion(Annotation( ) "Large testis") AnnotationAssertion( "HP:0000053") AnnotationAssertion(rdfs:label "Macroorchidism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18798,8 +18791,8 @@ AnnotationAssertion(Annotation( "HP:0000038") AnnotationAssertion( "SNOMEDCT_US:34911001") AnnotationAssertion( "UMLS:C4551492") -AnnotationAssertion(Annotation( ) "Short penis") -AnnotationAssertion(Annotation( ) "Small penis") +AnnotationAssertion(Annotation( ) "Short penis") +AnnotationAssertion(Annotation( ) "Small penis") AnnotationAssertion( "HP:0000054") AnnotationAssertion(rdfs:label "Micropenis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18809,7 +18802,7 @@ SubClassOf( ) "An abnormality of the female external genitalia.") AnnotationAssertion( "UMLS:C4021822") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal female external genitalia") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal female external genitalia") AnnotationAssertion( "HP:0000055") AnnotationAssertion(rdfs:label "Abnormality of female external genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18820,7 +18813,7 @@ SubClassOf( ) "An abnormality of the clitoris.") AnnotationAssertion( "UMLS:C4025893") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the clit") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the clit") AnnotationAssertion( "HP:0000056") AnnotationAssertion(rdfs:label "Abnormality of the clitoris") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18848,8 +18841,8 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:289469003") AnnotationAssertion( "UMLS:C0566899") AnnotationAssertion( "Hypoplasia of labia majora") -AnnotationAssertion(Annotation( ) "Small labia majora") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped vaginal lips") +AnnotationAssertion(Annotation( ) "Small labia majora") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped vaginal lips") AnnotationAssertion( "HP:0000059") AnnotationAssertion(rdfs:label "Hypoplastic labia majora") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18861,8 +18854,8 @@ SubClassOf( ) "Developmental hypoplasia of the clitoris.") AnnotationAssertion( "UMLS:C1844527") AnnotationAssertion( "Hypoplastic clitoris") -AnnotationAssertion(Annotation( ) "Small clitoris") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped clit") +AnnotationAssertion(Annotation( ) "Small clitoris") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped clit") AnnotationAssertion( "HP:0000060") AnnotationAssertion(rdfs:label "Clitoral hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18875,7 +18868,7 @@ AnnotationAssertion(Annotation( "HP:0008690") AnnotationAssertion( "UMLS:C1859980") AnnotationAssertion( "UMLS:C4025891") -AnnotationAssertion(Annotation( ) Annotation( ) "Atypical appearance of female genitals") +AnnotationAssertion(Annotation( ) Annotation( ) "Atypical appearance of female genitals") AnnotationAssertion( "Ambiguous genitalia due to virilization") AnnotationAssertion( "HP:0000061") AnnotationAssertion(rdfs:label "Ambiguous genitalia, female") @@ -18891,9 +18884,9 @@ AnnotationAssertion( "MSH:D012734") AnnotationAssertion( "SNOMEDCT_US:21321009") AnnotationAssertion( "UMLS:C0266362") -AnnotationAssertion(Annotation( ) "Ambiguous external genitalia") -AnnotationAssertion(Annotation( ) "Ambiguous external genitalia at birth") -AnnotationAssertion(Annotation( ) "Intersex genitalia") +AnnotationAssertion(Annotation( ) "Ambiguous external genitalia") +AnnotationAssertion(Annotation( ) "Ambiguous external genitalia at birth") +AnnotationAssertion(Annotation( ) "Intersex genitalia") AnnotationAssertion( "HP:0000062") AnnotationAssertion(rdfs:comment "Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome.") AnnotationAssertion(rdfs:label "Ambiguous genitalia") @@ -18903,7 +18896,7 @@ SubClassOf( ) "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.") AnnotationAssertion( "UMLS:C1837532") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused inner lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused inner lips") AnnotationAssertion( "HP:0000063") AnnotationAssertion(rdfs:label "Fused labia minora") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18912,7 +18905,7 @@ SubClassOf( (Hypoplastic labia minora) AnnotationAssertion( "UMLS:C1849295") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped inner lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped inner lips") AnnotationAssertion( "HP:0000064") AnnotationAssertion(rdfs:label "Hypoplastic labia minora") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18924,8 +18917,8 @@ SubClassOf( "SNOMEDCT_US:16924008") AnnotationAssertion( "UMLS:C0404531") AnnotationAssertion( "Enlarged vaginal lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the labia") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the vaginal lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the labia") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the vaginal lips") AnnotationAssertion( "HP:0000065") AnnotationAssertion(rdfs:label "Labial hypertrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18935,7 +18928,7 @@ SubClassOf( "UMLS:C1850325") AnnotationAssertion( "Hypoplastic labia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped labia") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped labia") AnnotationAssertion( "HP:0000066") AnnotationAssertion(rdfs:label "Labial hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -18991,7 +18984,7 @@ SubClassOf( ) "The presence of a stenotic, i.e., constricted ureter.") AnnotationAssertion( "SNOMEDCT_US:95574003") AnnotationAssertion( "UMLS:C0521618") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the ureter") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the ureter") AnnotationAssertion( "HP:0000071") AnnotationAssertion(rdfs:label "Ureteral stenosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19021,7 +19014,7 @@ SubClassOf( ) "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.") AnnotationAssertion( "SNOMEDCT_US:49496001") AnnotationAssertion( "UMLS:C0221365") -AnnotationAssertion(Annotation( ) "Double ureter") +AnnotationAssertion(Annotation( ) "Double ureter") AnnotationAssertion( "HP:0000073") AnnotationAssertion(rdfs:label "Ureteral duplication") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19046,7 +19039,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-02-25T12:45:00Z") AnnotationAssertion( "SNOMEDCT_US:30275001") AnnotationAssertion( "UMLS:C0266298") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra kidney") AnnotationAssertion( "Supernumerary kidney") AnnotationAssertion( "HP:0000075") AnnotationAssertion(rdfs:label "Renal duplication") @@ -19080,8 +19073,8 @@ AnnotationAssertion( "SNOMEDCT_US:90708001") AnnotationAssertion( "UMLS:C0022658") AnnotationAssertion( "UMLS:C0266292") -AnnotationAssertion(Annotation( ) "Abnormal kidney") -AnnotationAssertion(Annotation( ) "Abnormality of the kidney") +AnnotationAssertion(Annotation( ) "Abnormal kidney") +AnnotationAssertion(Annotation( ) "Abnormality of the kidney") AnnotationAssertion( "Renal anomalies") AnnotationAssertion( "Renal anomaly") AnnotationAssertion( "HP:0000077") @@ -19095,11 +19088,11 @@ SubClassOf( ) "An abnormality of the genital system.") AnnotationAssertion( "UMLS:C0281966") AnnotationAssertion( "UMLS:C0744356") -AnnotationAssertion(Annotation( ) "Genital abnormalities") -AnnotationAssertion(Annotation( ) "Genital abnormality") -AnnotationAssertion(Annotation( ) "Genital anomalies") -AnnotationAssertion(Annotation( ) "Genital defects") -AnnotationAssertion(Annotation( ) "Abnormality of the reproductive system") +AnnotationAssertion(Annotation( ) "Genital abnormalities") +AnnotationAssertion(Annotation( ) "Genital abnormality") +AnnotationAssertion(Annotation( ) "Genital anomalies") +AnnotationAssertion(Annotation( ) "Genital defects") +AnnotationAssertion(Annotation( ) "Abnormality of the reproductive system") AnnotationAssertion( "HP:0000078") AnnotationAssertion(rdfs:label "Abnormality of the genital system") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19109,9 +19102,9 @@ SubClassOf( ) "An abnormality of the urinary system.") AnnotationAssertion( "UMLS:C4021821") -AnnotationAssertion(Annotation( ) "Urinary tract abnormalities") -AnnotationAssertion(Annotation( ) "Urinary tract abnormality") -AnnotationAssertion(Annotation( ) "Urinary tract anomalies") +AnnotationAssertion(Annotation( ) "Urinary tract abnormalities") +AnnotationAssertion(Annotation( ) "Urinary tract abnormality") +AnnotationAssertion(Annotation( ) "Urinary tract anomalies") AnnotationAssertion( "HP:0000079") AnnotationAssertion(rdfs:label "Abnormality of the urinary system") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19120,11 +19113,11 @@ SubClassOf( (Abnormality of reproductive system physiology) AnnotationAssertion(Annotation( ) "An abnormal functionality of the genital system.") -AnnotationAssertion(Annotation( ) "Abnormality of genital physiology") +AnnotationAssertion(Annotation( ) "Abnormality of genital physiology") AnnotationAssertion( "UMLS:C4020896") AnnotationAssertion( "UMLS:C4021820") -AnnotationAssertion(Annotation( ) "Abnormality of reproductive system physiology") -AnnotationAssertion(Annotation( ) "Genital functional abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of reproductive system physiology") +AnnotationAssertion(Annotation( ) "Genital functional abnormality") AnnotationAssertion( "HP:0000080") AnnotationAssertion(rdfs:label "Abnormality of reproductive system physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19156,8 +19149,8 @@ AnnotationAssertion( "UMLS:C0035078") AnnotationAssertion( "UMLS:C1565489") AnnotationAssertion( "UMLS:C1839604") -AnnotationAssertion(Annotation( ) "Renal failure") -AnnotationAssertion(Annotation( ) "Renal failure in adulthood") +AnnotationAssertion(Annotation( ) "Renal failure") +AnnotationAssertion(Annotation( ) "Renal failure in adulthood") AnnotationAssertion( "HP:0000083") AnnotationAssertion(rdfs:label "Renal insufficiency") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19171,8 +19164,8 @@ AnnotationAssertion( "MSH:D000069337") AnnotationAssertion( "SNOMEDCT_US:41729002") AnnotationAssertion( "UMLS:C0221353") -AnnotationAssertion(Annotation( ) "Horseshoe kidney") -AnnotationAssertion(Annotation( ) "Horseshoe kidneys") +AnnotationAssertion(Annotation( ) "Horseshoe kidney") +AnnotationAssertion(Annotation( ) "Horseshoe kidneys") AnnotationAssertion( "HP:0000085") AnnotationAssertion(rdfs:label "Horseshoe kidney") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19183,8 +19176,8 @@ SubClassOf( ) "A developmental defect in which a kidney is located in an abnormal anatomic position.") AnnotationAssertion( "SNOMEDCT_US:16507009") AnnotationAssertion( "UMLS:C0238207") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kidney location") -AnnotationAssertion(Annotation( ) "Displaced kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kidney location") +AnnotationAssertion(Annotation( ) "Displaced kidney") AnnotationAssertion( "Ectopic kidneys") AnnotationAssertion( "Renal ectopia") AnnotationAssertion( "HP:0000086") @@ -19202,8 +19195,8 @@ AnnotationAssertion( "UMLS:C0266295") AnnotationAssertion( "Hypoplastic kidney") AnnotationAssertion( "Hypoplastic kidneys") -AnnotationAssertion(Annotation( ) "Small kidneys") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped kidneys") +AnnotationAssertion(Annotation( ) "Small kidneys") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped kidneys") AnnotationAssertion( "HP:0000089") AnnotationAssertion(rdfs:comment "Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal.") AnnotationAssertion(rdfs:label "Renal hypoplasia") @@ -19253,8 +19246,8 @@ AnnotationAssertion(Annotation( "MSH:D011507") AnnotationAssertion( "SNOMEDCT_US:29738008") AnnotationAssertion( "UMLS:C0033687") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine protein levels") -AnnotationAssertion(Annotation( ) "Protein in urine") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine protein levels") +AnnotationAssertion(Annotation( ) "Protein in urine") AnnotationAssertion( "HP:0000093") AnnotationAssertion(rdfs:label "Proteinuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -19314,9 +19307,9 @@ AnnotationAssertion( "SNOMEDCT_US:248328003") AnnotationAssertion( "UMLS:C0241240") AnnotationAssertion( "Accelerated linear growth") -AnnotationAssertion(Annotation( ) "Increased body height") +AnnotationAssertion(Annotation( ) "Increased body height") AnnotationAssertion( "Increased linear growth") -AnnotationAssertion(Annotation( ) "Tall stature") +AnnotationAssertion(Annotation( ) "Tall stature") AnnotationAssertion( "HP:0000098") AnnotationAssertion(rdfs:label "Tall stature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19360,7 +19353,7 @@ AnnotationAssertion( "SNOMEDCT_US:56574000") AnnotationAssertion( "SNOMEDCT_US:718402002") AnnotationAssertion( "UMLS:C0032617") -AnnotationAssertion(Annotation( ) "Increased urine output") +AnnotationAssertion(Annotation( ) "Increased urine output") AnnotationAssertion( "HP:0000103") AnnotationAssertion(rdfs:comment "An excessive volume of urination for an adult is more than 2.5 liters of urine per day.") AnnotationAssertion(rdfs:label "Polyuria") @@ -19376,8 +19369,8 @@ AnnotationAssertion( "Fyler:4503") AnnotationAssertion( "SNOMEDCT_US:204942005") AnnotationAssertion( "UMLS:C0542519") -AnnotationAssertion(Annotation( ) "Absent kidney") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing kidney") +AnnotationAssertion(Annotation( ) "Absent kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing kidney") AnnotationAssertion( "Renal aplasia") AnnotationAssertion( "HP:0000104") AnnotationAssertion(rdfs:comment "Renal agenesis can occur as a unilateral or bilateral trait.") @@ -19390,8 +19383,8 @@ SubClassOf( ) "An abnormal increase in the size of the kidney.") AnnotationAssertion( "SNOMEDCT_US:300444006") AnnotationAssertion( "UMLS:C0542518") -AnnotationAssertion(Annotation( ) "Enlarged kidney") -AnnotationAssertion(Annotation( ) "Large kidneys") +AnnotationAssertion(Annotation( ) "Enlarged kidney") +AnnotationAssertion(Annotation( ) "Large kidneys") AnnotationAssertion( "Nephromegaly") AnnotationAssertion( "Renal enlargement") AnnotationAssertion( "Large kidney") @@ -19409,9 +19402,9 @@ AnnotationAssertion( "MSH:D052177") AnnotationAssertion( "UMLS:C0022679") AnnotationAssertion( "UMLS:C3887499") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Kidney cyst") -AnnotationAssertion(Annotation( ) "Cystic kidney disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Cystic kidneys") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Kidney cyst") +AnnotationAssertion(Annotation( ) "Cystic kidney disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Cystic kidneys") AnnotationAssertion(Annotation( ) "Renal cysts") AnnotationAssertion( "HP:0000107") AnnotationAssertion(rdfs:label "Renal cyst") @@ -19457,8 +19450,8 @@ SubClassOf( (Nephropathy) AnnotationAssertion(Annotation( ) "A nonspecific term referring to disease or damage of the kidneys.") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney damage") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Kidney disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney damage") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Kidney disease") AnnotationAssertion( "MSH:D007674") AnnotationAssertion( "SNOMEDCT_US:90708001") AnnotationAssertion( "UMLS:C0022658") @@ -19558,8 +19551,8 @@ AnnotationAssertion( "SNOMEDCT_US:48638002") AnnotationAssertion( "UMLS:C0027709") AnnotationAssertion( "UMLS:C4280679") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Too much calcium deposited in kidneys") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased calcium level in kidney") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Too much calcium deposited in kidneys") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased calcium level in kidney") AnnotationAssertion( "HP:0000121") AnnotationAssertion(rdfs:comment "Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content.") AnnotationAssertion(rdfs:label "Nephrocalcinosis") @@ -19572,9 +19565,9 @@ AnnotationAssertion(Annotation( "Fyler:4509") AnnotationAssertion( "SNOMEDCT_US:55726006") AnnotationAssertion( "UMLS:C0266294") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent kidney on one side") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing one kidney") -AnnotationAssertion(Annotation( ) "Single kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent kidney on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing one kidney") +AnnotationAssertion(Annotation( ) "Single kidney") AnnotationAssertion( "Unilateral kidney agenesis") AnnotationAssertion( "HP:0000122") AnnotationAssertion(rdfs:label "Unilateral renal agenesis") @@ -19588,7 +19581,7 @@ AnnotationAssertion( "MSH:D009393") AnnotationAssertion( "SNOMEDCT_US:52845002") AnnotationAssertion( "UMLS:C0027697") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney inflammation") AnnotationAssertion( "HP:0000123") AnnotationAssertion(rdfs:label "Nephritis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -19600,7 +19593,7 @@ SubClassOf( "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.") AnnotationAssertion( "SNOMEDCT_US:95568003") AnnotationAssertion( "UMLS:C0151747") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal function of filtrating structures in kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal function of filtrating structures in kidney") AnnotationAssertion( "Renal tubular defect") AnnotationAssertion( "Renal tubular disease") AnnotationAssertion( "HP:0000124") @@ -19634,7 +19627,7 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).") AnnotationAssertion( "UMLS:C1846347") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of salt in urine") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of salt in urine") AnnotationAssertion( "Renal salt-wasting") AnnotationAssertion( "Salt wasting") AnnotationAssertion( "Salt-wasting") @@ -19660,9 +19653,9 @@ AnnotationAssertion( "MSH:C562565") AnnotationAssertion( "SNOMEDCT_US:37849005") AnnotationAssertion( "UMLS:C0266383") -AnnotationAssertion(Annotation( ) "Abnormality of the uterus") -AnnotationAssertion(Annotation( ) "Uterine abnormalities") -AnnotationAssertion(Annotation( ) "Uterine malformations") +AnnotationAssertion(Annotation( ) "Abnormality of the uterus") +AnnotationAssertion(Annotation( ) "Uterine abnormalities") +AnnotationAssertion(Annotation( ) "Uterine malformations") AnnotationAssertion( "HP:0000130") AnnotationAssertion(rdfs:label "Abnormality of the uterus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19692,8 +19685,8 @@ AnnotationAssertion( "MSH:D008595") AnnotationAssertion( "SNOMEDCT_US:386692008") AnnotationAssertion( "UMLS:C0025323") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally heavy bleeding during menstruation") -AnnotationAssertion(Annotation( ) "Abnormally heavy periods") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally heavy bleeding during menstruation") +AnnotationAssertion(Annotation( ) "Abnormally heavy periods") AnnotationAssertion(Annotation( "PMID:22594864") "Hypermenorrhea") AnnotationAssertion( "HP:0000132") AnnotationAssertion(rdfs:label "Menorrhagia") @@ -19737,7 +19730,7 @@ AnnotationAssertion(Annotation( "MSH:D007006") AnnotationAssertion( "SNOMEDCT_US:48130008") AnnotationAssertion( "UMLS:C0020619") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased activity of gonads") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased activity of gonads") AnnotationAssertion( "HP:0000135") AnnotationAssertion(rdfs:comment "Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones.") AnnotationAssertion(rdfs:label "Hypogonadism") @@ -19762,9 +19755,9 @@ AnnotationAssertion( "SNOMEDCT_US:5552004") AnnotationAssertion( "UMLS:C0029928") AnnotationAssertion( "UMLS:C4021818") -AnnotationAssertion(Annotation( ) "Abnormality of the ovaries") -AnnotationAssertion(Annotation( ) "Abnormality of the ovary") -AnnotationAssertion(Annotation( ) "Ovarian disease") +AnnotationAssertion(Annotation( ) "Abnormality of the ovaries") +AnnotationAssertion(Annotation( ) "Abnormality of the ovary") +AnnotationAssertion(Annotation( ) "Ovarian disease") AnnotationAssertion( "HP:0000137") AnnotationAssertion(rdfs:label "Abnormality of the ovary") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19779,7 +19772,7 @@ AnnotationAssertion( "UMLS:C0029927") AnnotationAssertion( "Cystic abnormalities of the ovaries") AnnotationAssertion( "Cystic ovaries") -AnnotationAssertion(Annotation( ) "Ovarian cyst") +AnnotationAssertion(Annotation( ) "Ovarian cyst") AnnotationAssertion( "Ovarian cystic abnormality") AnnotationAssertion( "HP:0000138") AnnotationAssertion(rdfs:label "Ovarian cyst") @@ -19793,7 +19786,7 @@ AnnotationAssertion( "MSH:D014596") AnnotationAssertion( "SNOMEDCT_US:24976005") AnnotationAssertion( "UMLS:C0042140") -AnnotationAssertion(Annotation( ) Annotation( ) "Sagging uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Sagging uterus") AnnotationAssertion( "HP:0000139") AnnotationAssertion(rdfs:comment "The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position.") AnnotationAssertion(rdfs:label "Uterine prolapse") @@ -19806,8 +19799,8 @@ SubClassOf( ) Annotation( "PMID:23281358") "An abnormality of the ovulation cycle.") AnnotationAssertion( "UMLS:C3549779") AnnotationAssertion( "UMLS:C4025888") -AnnotationAssertion(Annotation( ) "Abnormality of the menstrual cycle") -AnnotationAssertion(Annotation( ) "Menstrual abnormalities") +AnnotationAssertion(Annotation( ) "Abnormality of the menstrual cycle") +AnnotationAssertion(Annotation( ) "Menstrual abnormalities") AnnotationAssertion( "HP:0000140") AnnotationAssertion(rdfs:label "Abnormality of the menstrual cycle") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19817,7 +19810,7 @@ SubClassOf( "PMID:22594864") "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.") AnnotationAssertion( "UMLS:C2219717") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal absence of menstruation") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal absence of menstruation") AnnotationAssertion( "HP:0000141") AnnotationAssertion(rdfs:label "Amenorrhea") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19841,7 +19834,7 @@ AnnotationAssertion(Annotation(rdfs:label "Rectovaginal fistula") "MSH:D012006") AnnotationAssertion( "SNOMEDCT_US:65619001") AnnotationAssertion( "UMLS:C0034895") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal connection between rectum and vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal connection between rectum and vagina") AnnotationAssertion( "HP:0000143") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Rectovaginal fistula") @@ -19853,8 +19846,8 @@ SubClassOf( "SNOMEDCT_US:17276009") AnnotationAssertion( "UMLS:C0520927") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fertility") -AnnotationAssertion(Annotation( ) "Decreased fertility") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fertility") +AnnotationAssertion(Annotation( ) "Decreased fertility") AnnotationAssertion( "HP:0000144") AnnotationAssertion(rdfs:label "Decreased fertility") SubClassOf( ) @@ -19888,7 +19881,7 @@ SubClassOf( ) "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.") AnnotationAssertion( "SNOMEDCT_US:87380008") AnnotationAssertion( "UMLS:C1321884") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormally closed or absent vagina") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormally closed or absent vagina") AnnotationAssertion( "HP:0000148") AnnotationAssertion(rdfs:label "Vaginal atresia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19926,8 +19919,8 @@ SubClassOf( ) "Aplasia of the uterus.") AnnotationAssertion( "SNOMEDCT_US:248942000") AnnotationAssertion( "UMLS:C0425913") -AnnotationAssertion(Annotation( ) "Absent uterus") -AnnotationAssertion(Annotation( ) "uterus absent") +AnnotationAssertion(Annotation( ) "Absent uterus") +AnnotationAssertion(Annotation( ) "uterus absent") AnnotationAssertion( "HP:0000151") AnnotationAssertion(rdfs:label "Aplasia of the uterus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19937,8 +19930,8 @@ SubClassOf( ) "An abnormality of head and neck.") AnnotationAssertion( "UMLS:C4021817") -AnnotationAssertion(Annotation( ) "Abnormality of head or neck") -AnnotationAssertion(Annotation( ) "Head and neck abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of head or neck") +AnnotationAssertion(Annotation( ) "Head and neck abnormality") AnnotationAssertion( "HP:0000152") AnnotationAssertion(rdfs:label "Abnormality of head or neck") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -19950,8 +19943,8 @@ AnnotationAssertion(Annotation( "MSH:D009056") AnnotationAssertion( "SNOMEDCT_US:128334002") AnnotationAssertion( "UMLS:C0026633") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal mouth") -AnnotationAssertion(Annotation( ) "Abnormality of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal mouth") +AnnotationAssertion(Annotation( ) "Abnormality of the mouth") AnnotationAssertion( "HP:0000153") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the mouth") @@ -19966,11 +19959,11 @@ AnnotationAssertion( "MSH:D008265") AnnotationAssertion( "SNOMEDCT_US:40159009") AnnotationAssertion( "UMLS:C0024433") -AnnotationAssertion(Annotation( ) "Broad mouth") -AnnotationAssertion(Annotation( ) "Large mouth") +AnnotationAssertion(Annotation( ) "Broad mouth") +AnnotationAssertion(Annotation( ) "Large mouth") AnnotationAssertion(Annotation( ) "Large oral aperture") AnnotationAssertion( "Macrostomia") -AnnotationAssertion(Annotation( ) "Wide mouth") +AnnotationAssertion(Annotation( ) "Wide mouth") AnnotationAssertion( "HP:0000154") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft.") @@ -19981,11 +19974,11 @@ SubClassOf( (Oral ulcer) AnnotationAssertion(Annotation( ) "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.") -AnnotationAssertion(Annotation( ) Annotation( ) "Mouth sore") +AnnotationAssertion(Annotation( ) Annotation( ) "Mouth sore") AnnotationAssertion( "MSH:D019226") AnnotationAssertion( "SNOMEDCT_US:26284000") AnnotationAssertion( "UMLS:C0149745") -AnnotationAssertion(Annotation( ) Annotation( ) "Mouth ulcer") +AnnotationAssertion(Annotation( ) Annotation( ) "Mouth ulcer") AnnotationAssertion( "Oral mucosal ulceration") AnnotationAssertion( "HP:0000155") AnnotationAssertion( ) @@ -19996,11 +19989,11 @@ SubClassOf( ) "Any abnormality of the tongue.") AnnotationAssertion( "UMLS:C0878638") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal tongue") -AnnotationAssertion(Annotation( ) "Abnormality of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal tongue") +AnnotationAssertion(Annotation( ) "Abnormality of the tongue") AnnotationAssertion(Annotation( ) "Glossal abnormality") AnnotationAssertion(Annotation( ) "Lingual abnormality") -AnnotationAssertion(Annotation( ) "Tongue abnormality") +AnnotationAssertion(Annotation( ) "Tongue abnormality") AnnotationAssertion( "HP:0000157") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the tongue") @@ -20017,11 +20010,11 @@ AnnotationAssertion(Annotation( "MSH:D008260") AnnotationAssertion( "SNOMEDCT_US:25273001") AnnotationAssertion( "UMLS:C0024421") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally large tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally large tongue") AnnotationAssertion( "Hyperplasia of the tongue") AnnotationAssertion( "Hypertrophy of the tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of tongue") -AnnotationAssertion(Annotation( ) "Large tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of tongue") +AnnotationAssertion(Annotation( ) "Large tongue") AnnotationAssertion( "Tongue hypertrophy") AnnotationAssertion( "HP:0000158") AnnotationAssertion( ) @@ -20035,12 +20028,12 @@ SubClassOf( ) "An abnormality of the lip.") AnnotationAssertion( "UMLS:C2183966") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal lip") -AnnotationAssertion(Annotation( ) "Abnormality of the lip") -AnnotationAssertion(Annotation( ) "Lip abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal lip") +AnnotationAssertion(Annotation( ) "Abnormality of the lip") +AnnotationAssertion(Annotation( ) "Lip abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of lip") AnnotationAssertion( "HP:0000159") AnnotationAssertion(rdfs:label "Abnormal lip morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -20056,8 +20049,8 @@ AnnotationAssertion( "SNOMEDCT_US:14582003") AnnotationAssertion( "UMLS:C0026034") AnnotationAssertion( "Microstomia") -AnnotationAssertion(Annotation( ) "Narrow mouth") -AnnotationAssertion(Annotation( ) "Small mouth") +AnnotationAssertion(Annotation( ) "Narrow mouth") +AnnotationAssertion(Annotation( ) "Small mouth") AnnotationAssertion( "Small oral aperture") AnnotationAssertion( "HP:0000160") AnnotationAssertion( ) @@ -20070,7 +20063,7 @@ SubClassOf( ) "A type of cleft lip presenting as a midline (median) gap in the upper lip.") AnnotationAssertion( "UMLS:C1850256") -AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft upper lip") AnnotationAssertion( "Midline cleft lip") AnnotationAssertion( "HP:0000161") AnnotationAssertion( ) @@ -20087,7 +20080,7 @@ AnnotationAssertion( "UMLS:C0267048") AnnotationAssertion( "UMLS:C4280678") AnnotationAssertion(Annotation( ) "Lingual retraction") -AnnotationAssertion(Annotation( ) Annotation( ) "Retraction of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Retraction of the tongue") AnnotationAssertion( "HP:0000162") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway.") @@ -20099,7 +20092,7 @@ SubClassOf( ) "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.") AnnotationAssertion( "UMLS:C4025887") -AnnotationAssertion(Annotation( ) "Abnormality of the oral cavity") +AnnotationAssertion(Annotation( ) "Abnormality of the oral cavity") AnnotationAssertion( "HP:0000163") AnnotationAssertion(rdfs:label "Abnormal oral cavity morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -20115,15 +20108,15 @@ AnnotationAssertion( "SNOMEDCT_US:422775003") AnnotationAssertion( "UMLS:C0040427") AnnotationAssertion( "UMLS:C0262444") -AnnotationAssertion(Annotation( ) "Abnormal dentition") -AnnotationAssertion(Annotation( ) "Abnormal teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Dental abnormalities") -AnnotationAssertion(Annotation( ) "Dental abnormality") +AnnotationAssertion(Annotation( ) "Abnormal dentition") +AnnotationAssertion(Annotation( ) "Abnormal teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Dental abnormalities") +AnnotationAssertion(Annotation( ) "Dental abnormality") AnnotationAssertion(Annotation( ) "Dental anomalies") -AnnotationAssertion(Annotation( ) "Abnormality of the teeth") -AnnotationAssertion(Annotation( ) "Dental problem") -AnnotationAssertion(Annotation( ) Annotation( ) "Dental problems") -AnnotationAssertion(Annotation( ) "Tooth abnormalities") +AnnotationAssertion(Annotation( ) "Abnormality of the teeth") +AnnotationAssertion(Annotation( ) "Dental problem") +AnnotationAssertion(Annotation( ) Annotation( ) "Dental problems") +AnnotationAssertion(Annotation( ) "Tooth abnormalities") AnnotationAssertion( "HP:0000164") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Any abnormality of the primary (deciduous) or permanent teeth.") @@ -20134,7 +20127,7 @@ SubClassOf( (Severe periodontitis) AnnotationAssertion(Annotation( ) "A severe form of periodontitis.") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe gum disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe gum disease") AnnotationAssertion( "UMLS:C4025886") AnnotationAssertion(Annotation( ) "Severe periodontal disease") AnnotationAssertion(Annotation( ) "Severe pyorrhea") @@ -20147,7 +20140,7 @@ SubClassOf( ) "Any abnormality of the gingiva (also known as gums).") AnnotationAssertion( "UMLS:C4021816") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the gums") AnnotationAssertion( "Gingival abnormality") AnnotationAssertion( "HP:0000168") AnnotationAssertion( ) @@ -20188,7 +20181,7 @@ AnnotationAssertion( "SNOMEDCT_US:32614006") AnnotationAssertion( "UMLS:C0025988") AnnotationAssertion( "UMLS:C0426492") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small tongue") AnnotationAssertion( "Decreased size of tongue") AnnotationAssertion( "Hypoglossia") AnnotationAssertion( "Hypoplasia of the tongue") @@ -20196,7 +20189,7 @@ AnnotationAssertion( "Lingual hypoplasia") AnnotationAssertion( "Rudimentary tongue") AnnotationAssertion( "Small tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the tongue") AnnotationAssertion( "HP:0000171") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained.") @@ -20209,7 +20202,7 @@ SubClassOf( ) "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.") AnnotationAssertion( "UMLS:C4025885") AnnotationAssertion(Annotation( ) "Abnormality of palatine uvula") -AnnotationAssertion(Annotation( ) "Abnormality of the uvula") +AnnotationAssertion(Annotation( ) "Abnormality of the uvula") AnnotationAssertion( "HP:0000172") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal uvula morphology") @@ -20220,8 +20213,8 @@ SubClassOf( ) "Any abnormality of the palate, i.e., of roof of the mouth.") AnnotationAssertion( "UMLS:C4021815") -AnnotationAssertion(Annotation( ) "Abnormality of the palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the roof of the mouth") +AnnotationAssertion(Annotation( ) "Abnormality of the palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the roof of the mouth") AnnotationAssertion(Annotation( ) "Palatal anomaly") AnnotationAssertion( "Palate abnormality") AnnotationAssertion( "HP:0000174") @@ -20244,8 +20237,8 @@ AnnotationAssertion( ) Annotation( ) "Cleft hard and soft palate") AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of hard and soft palate") AnnotationAssertion( "Cleft of palate") -AnnotationAssertion(Annotation( ) "Cleft palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft roof of mouth") +AnnotationAssertion(Annotation( ) "Cleft palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft roof of mouth") AnnotationAssertion(Annotation( ) "Palatoschisis") AnnotationAssertion(Annotation( ) "Uranostaphyloschisis") AnnotationAssertion( "HP:0000175") @@ -20277,10 +20270,10 @@ SubClassOf( ) "An abnormality of the upper lip.") AnnotationAssertion( "UMLS:C4025884") -AnnotationAssertion(Annotation( ) "Abnormality of upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the upper lip") +AnnotationAssertion(Annotation( ) "Abnormality of upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the upper lip") AnnotationAssertion( "HP:0000177") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal upper lip morphology") @@ -20291,10 +20284,10 @@ SubClassOf( ) "An abnormality of the lower lip.") AnnotationAssertion( "UMLS:C4025883") -AnnotationAssertion(Annotation( ) "Abnormality of lower lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the lower lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the lower lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the lower lip") +AnnotationAssertion(Annotation( ) "Abnormality of lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the lower lip") AnnotationAssertion( "HP:0000178") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal lower lip morphology") @@ -20309,15 +20302,15 @@ AnnotationAssertion( "UMLS:C2053437") AnnotationAssertion(Annotation( ) "Full lower lip vermilion") AnnotationAssertion(Annotation( ) "Increased height of lower lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of lower lip") AnnotationAssertion(Annotation( ) "Increased volume of lower lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Plump lower lip") -AnnotationAssertion(Annotation( ) "Prominent lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Plump lower lip") +AnnotationAssertion(Annotation( ) "Prominent lower lip") AnnotationAssertion( "Thick vermilion border of lower lip") AnnotationAssertion(Annotation( ) "Prominent lower lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick red part of the lower lip") -AnnotationAssertion(Annotation( ) "Full lower lip") -AnnotationAssertion(Annotation( ) "Thick lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick red part of the lower lip") +AnnotationAssertion(Annotation( ) "Full lower lip") +AnnotationAssertion(Annotation( ) "Thick lower lip") AnnotationAssertion( "HP:0000179") AnnotationAssertion(rdfs:comment "Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.") AnnotationAssertion(rdfs:label "Thick lower lip vermilion") @@ -20330,7 +20323,7 @@ SubClassOf( "PMID:19125428") "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.") AnnotationAssertion( "SNOMEDCT_US:253752000") AnnotationAssertion( "UMLS:C0431564") -AnnotationAssertion(Annotation( ) Annotation( ) "Bumpy tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Bumpy tongue") AnnotationAssertion(Annotation( ) "Lingual lobules") AnnotationAssertion( "Lobulate tongue") AnnotationAssertion( "HP:0000180") @@ -20343,7 +20336,7 @@ SubClassOf( "UMLS:C4025882") AnnotationAssertion(Annotation( ) "Abnormality of lingual movement") -AnnotationAssertion(Annotation( ) "Movement abnormality of the tongue") +AnnotationAssertion(Annotation( ) "Movement abnormality of the tongue") AnnotationAssertion( "HP:0000182") AnnotationAssertion(rdfs:label "Movement abnormality of the tongue") SubClassOf( ) @@ -20353,7 +20346,7 @@ SubClassOf( "UMLS:C1853406") AnnotationAssertion( "UMLS:C4280676") AnnotationAssertion(Annotation( ) "Difficulty in lingual movements") -AnnotationAssertion(Annotation( ) "Difficulty in tongue movements") +AnnotationAssertion(Annotation( ) "Difficulty in tongue movements") AnnotationAssertion(Annotation( ) "Hypokinesia of the tongue") AnnotationAssertion(Annotation( ) "Lingual hypokinesia") AnnotationAssertion( "HP:0000183") @@ -20384,7 +20377,7 @@ AnnotationAssertion( ) "Broad alveolar processes of jaw") AnnotationAssertion(Annotation( ) "Wide alveolar margins") AnnotationAssertion(Annotation( ) "Wide alveolar processes of jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide gum ridges") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide gum ridges") AnnotationAssertion( "HP:0000187") AnnotationAssertion(rdfs:label "Broad alveolar ridges") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -20395,12 +20388,12 @@ SubClassOf( ) "Decreased width of the upper lip.") AnnotationAssertion( "HP:0200087") AnnotationAssertion( "UMLS:C1848977") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased height of upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased height of upper lip") AnnotationAssertion(Annotation( ) "Decreased upper labial height") AnnotationAssertion(Annotation( ) "Decreased upper labial length") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased vertical length of upper lip") -AnnotationAssertion(Annotation( ) "Short upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased vertical length of upper lip") +AnnotationAssertion(Annotation( ) "Short upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of upper lip") AnnotationAssertion(Annotation( ) "Vertical deficiency of upper lip") AnnotationAssertion( "HP:0000188") AnnotationAssertion(rdfs:label "Short upper lip") @@ -20413,8 +20406,8 @@ AnnotationAssertion(Annotation( "UMLS:C1398312") AnnotationAssertion(Annotation( ) "Decreased palatal width") AnnotationAssertion(Annotation( ) "Decreased transverse dimension of palate") -AnnotationAssertion(Annotation( ) "Narrow palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow roof of mouth") +AnnotationAssertion(Annotation( ) "Narrow palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow roof of mouth") AnnotationAssertion( "HP:0000189") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow.") @@ -20476,11 +20469,11 @@ SubClassOf( ) "A facial appearance characterized by a permanently or nearly permanently opened mouth.") AnnotationAssertion( "SNOMEDCT_US:262016004") AnnotationAssertion( "UMLS:C0240379") -AnnotationAssertion(Annotation( ) Annotation( ) "Gaped jawed appearance") -AnnotationAssertion(Annotation( ) Annotation( ) "Gaped mouthed appearance") -AnnotationAssertion(Annotation( ) "Open mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Slack jawed appearance") -AnnotationAssertion(Annotation( ) Annotation( ) "Open mouth appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Gaped jawed appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Gaped mouthed appearance") +AnnotationAssertion(Annotation( ) "Open mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Slack jawed appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Open mouth appearance") AnnotationAssertion( "HP:0000194") AnnotationAssertion(rdfs:label "Open mouth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -20574,7 +20567,7 @@ AnnotationAssertion( "SNOMEDCT_US:66948001") AnnotationAssertion( "UMLS:C0158646") AnnotationAssertion( "UMLS:C4021813") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of the mouth") AnnotationAssertion( "Oral cleft") AnnotationAssertion( "Oral clefting") AnnotationAssertion( "Cleft lip, cleft palate") @@ -20591,9 +20584,9 @@ AnnotationAssertion( "SNOMEDCT_US:80281008") AnnotationAssertion( "UMLS:C0008924") AnnotationAssertion(Annotation( ) "Cheiloschisis of upper lip") -AnnotationAssertion(Annotation( ) "Cleft upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Harelip") -AnnotationAssertion(Annotation( ) "Cleft of upper lip") +AnnotationAssertion(Annotation( ) "Cleft upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Harelip") +AnnotationAssertion(Annotation( ) "Cleft of upper lip") AnnotationAssertion( "HP:0000204") AnnotationAssertion(rdfs:label "Cleft upper lip") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -20604,8 +20597,8 @@ SubClassOf( ) "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.") AnnotationAssertion( "UMLS:C1832130") -AnnotationAssertion(Annotation( ) "Pursed lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Tightly closed lips") +AnnotationAssertion(Annotation( ) "Pursed lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Tightly closed lips") AnnotationAssertion( "HP:0000205") AnnotationAssertion(rdfs:label "Pursed lips") SubClassOf( ) @@ -20616,9 +20609,9 @@ AnnotationAssertion(Annotation( "MSH:D005928") AnnotationAssertion( "SNOMEDCT_US:45534005") AnnotationAssertion( "UMLS:C0017675") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the tongue") AnnotationAssertion(Annotation( ) "Lingual inflammation") -AnnotationAssertion(Annotation( ) Annotation( ) "Smooth swollen tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Smooth swollen tongue") AnnotationAssertion( "HP:0000206") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Glossitis") @@ -20628,8 +20621,8 @@ SubClassOf( ) "The presence of a triangular form of the mouth.") AnnotationAssertion( "UMLS:C1849341") -AnnotationAssertion(Annotation( ) "Triangular mouth") -AnnotationAssertion(Annotation( ) "Triangular shaped mouth") +AnnotationAssertion(Annotation( ) "Triangular mouth") +AnnotationAssertion(Annotation( ) "Triangular shaped mouth") AnnotationAssertion(Annotation( ) "Triangular shaped oral aperture") AnnotationAssertion( "HP:0000207") AnnotationAssertion(rdfs:label "Triangular mouth") @@ -20639,25 +20632,25 @@ SubClassOf( (Trismus) AnnotationAssertion(Annotation( ) "Limitation in the ability to open the mouth.") -AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in jaw mobility") -AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in jaw movement") -AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in jaw opening") +AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in jaw mobility") +AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in jaw movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in jaw opening") AnnotationAssertion(Annotation( ) "Decrease in mandibular mobility") AnnotationAssertion(Annotation( ) "Decrease in mandibular movement") AnnotationAssertion(Annotation( ) "Decrease in mandibular opening") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited jaw mobility") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited jaw movement") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited jaw opening") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited jaw mobility") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited jaw movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited jaw opening") AnnotationAssertion(Annotation( ) "Limited mandibular mobility") AnnotationAssertion(Annotation( ) "Limited mandibular opening") -AnnotationAssertion(Annotation( ) "Limited mouth opening") +AnnotationAssertion(Annotation( ) "Limited mouth opening") AnnotationAssertion( "MSH:D014313") AnnotationAssertion( "SNOMEDCT_US:87866006") AnnotationAssertion( "UMLS:C0041105") AnnotationAssertion( "UMLS:C1848474") AnnotationAssertion( "UMLS:C4228933") AnnotationAssertion( "UMLS:C4280672") -AnnotationAssertion(Annotation( ) Annotation( ) "Lockjaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Lockjaw") AnnotationAssertion(Annotation( ) "Pain of muscles of mastication") AnnotationAssertion( "HP:0000211") AnnotationAssertion(rdfs:label "Trismus") @@ -20678,7 +20671,7 @@ AnnotationAssertion( "UMLS:C0376480") AnnotationAssertion(Annotation( ) "Gingival enlargement") AnnotationAssertion( "Gingival hyperplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Gum enlargement") +AnnotationAssertion(Annotation( ) Annotation( ) "Gum enlargement") AnnotationAssertion( "Gum hypertrophy") AnnotationAssertion( "Hypertrophic gingivitis") AnnotationAssertion( "Oral soft tissue hyperplasia") @@ -20700,7 +20693,7 @@ AnnotationAssertion( ) "Telangiectasia of the lips") AnnotationAssertion(Annotation( ) "Angioectasias of the lip") AnnotationAssertion(Annotation( ) "Labial angioectasias") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the lip") AnnotationAssertion( "HP:0000214") AnnotationAssertion(rdfs:label "Lip telangiectasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -20712,17 +20705,17 @@ SubClassOf( "PMID:19125428") "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).") AnnotationAssertion( "HP:0000231") AnnotationAssertion( "UMLS:C1846423") -AnnotationAssertion(Annotation( ) Annotation( ) "Full upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Full upper lip") AnnotationAssertion(Annotation( ) "Full upper lip vermilion") AnnotationAssertion(Annotation( ) "Increased height of upper lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of upper lip") AnnotationAssertion(Annotation( ) "Increased volume of upper lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Plump upper lip") -AnnotationAssertion(Annotation( ) "Prominent upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Plump upper lip") +AnnotationAssertion(Annotation( ) "Prominent upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick upper lip") AnnotationAssertion( "Thick vermilion border of upper lip") AnnotationAssertion(Annotation( ) "Prominent upper lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick red part of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick red part of the upper lip") AnnotationAssertion( "HP:0000215") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual.") @@ -20745,15 +20738,15 @@ SubClassOf( ) "Dryness of the mouth due to salivary gland dysfunction.") AnnotationAssertion( "HP:0002709") AnnotationAssertion( "HP:0100756") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased salivary flow") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased salivary flow") AnnotationAssertion( "MSH:D014987") AnnotationAssertion( "SNOMEDCT_US:300268000") AnnotationAssertion( "SNOMEDCT_US:56893005") AnnotationAssertion( "SNOMEDCT_US:87715008") AnnotationAssertion( "UMLS:C0043352") -AnnotationAssertion(Annotation( ) "Dry mouth") -AnnotationAssertion(Annotation( ) "Dry mouth syndrome") -AnnotationAssertion(Annotation( ) "Reduced salivation") +AnnotationAssertion(Annotation( ) "Dry mouth") +AnnotationAssertion(Annotation( ) "Dry mouth syndrome") +AnnotationAssertion(Annotation( ) "Reduced salivation") AnnotationAssertion( "HP:0000217") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Xerostomia") @@ -20769,12 +20762,12 @@ AnnotationAssertion( "HP:0009097") AnnotationAssertion( "SNOMEDCT_US:27272007") AnnotationAssertion( "UMLS:C0240635") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated palate") AnnotationAssertion( "High arched palate") -AnnotationAssertion(Annotation( ) "High palate") +AnnotationAssertion(Annotation( ) "High palate") AnnotationAssertion( "High, arched palate") AnnotationAssertion( "High-arched palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased palatal height") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased palatal height") AnnotationAssertion( "Palate high-arched") AnnotationAssertion( "Palate, high-arched") AnnotationAssertion( "Ogival palate") @@ -20793,9 +20786,9 @@ AnnotationAssertion( ) "Decreased height of upper lip vermilion") AnnotationAssertion(Annotation( ) "Decreased volume of upper lip") AnnotationAssertion(Annotation( ) "Decreased volume of upper lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin upper lip") AnnotationAssertion( "Thin vermilion border of upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin red part of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin red part of the upper lip") AnnotationAssertion(Annotation( ) "Thin upper lips") AnnotationAssertion( "HP:0000219") AnnotationAssertion( ) @@ -20815,7 +20808,7 @@ AnnotationAssertion( "SNOMEDCT_US:278714002") AnnotationAssertion( "UMLS:C0042454") AnnotationAssertion( "UMLS:C4280669") -AnnotationAssertion(Annotation( ) "Velopharyngeal incompetence") +AnnotationAssertion(Annotation( ) "Velopharyngeal incompetence") AnnotationAssertion( "HP:0000220") AnnotationAssertion(rdfs:label "Velopharyngeal insufficiency") SubClassOf( ) @@ -20827,7 +20820,7 @@ AnnotationAssertion( "SNOMEDCT_US:52368004") AnnotationAssertion( "UMLS:C0040412") AnnotationAssertion(Annotation( ) "Fissured tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Grooved tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Grooved tongue") AnnotationAssertion(Annotation( ) "Lingua plicata") AnnotationAssertion(Annotation( ) "Lingual furrow") AnnotationAssertion(Annotation( ) "Plicated tongue") @@ -20856,7 +20849,7 @@ SubClassOf( (Abnormality of taste sensation) AnnotationAssertion( "UMLS:C4025879") -AnnotationAssertion(Annotation( ) "Abnormality of taste sensation") +AnnotationAssertion(Annotation( ) "Abnormality of taste sensation") AnnotationAssertion( "HP:0000223") AnnotationAssertion(rdfs:label "Abnormality of taste sensation") SubClassOf( ) @@ -20868,8 +20861,8 @@ AnnotationAssertion( "MSH:D000370") AnnotationAssertion( "SNOMEDCT_US:697990000") AnnotationAssertion( "UMLS:C0151934") -AnnotationAssertion(Annotation( ) "Decreased taste") -AnnotationAssertion(Annotation( ) "Decreased taste sensation") +AnnotationAssertion(Annotation( ) "Decreased taste") +AnnotationAssertion(Annotation( ) "Decreased taste sensation") AnnotationAssertion( "HP:0000224") AnnotationAssertion(rdfs:label "Hypogeusia") SubClassOf( ) @@ -20881,7 +20874,7 @@ AnnotationAssertion( "MSH:D005884") AnnotationAssertion( "SNOMEDCT_US:86276007") AnnotationAssertion( "UMLS:C0017565") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding gums") AnnotationAssertion(Annotation( ) "Gingival haemorrhage") AnnotationAssertion(Annotation( ) "Gingival hemorrhage") AnnotationAssertion( "Gingivorrhagia") @@ -20899,7 +20892,7 @@ AnnotationAssertion( ) "Lingual telangiectasia") AnnotationAssertion(Annotation( ) "Angioectasias of the tongue") AnnotationAssertion(Annotation( ) "Lingual angioectasias") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the tongue") AnnotationAssertion( "HP:0000227") AnnotationAssertion(rdfs:label "Tongue telangiectasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -20914,7 +20907,7 @@ AnnotationAssertion( "Oral cavity teleangiectasia") AnnotationAssertion(Annotation( ) "Angioectasias of the mouth") AnnotationAssertion(Annotation( ) "Angioectasias of the oral cavity") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the mouth") AnnotationAssertion(Annotation( ) "Spider veins of the oral cavity") AnnotationAssertion( "HP:0000228") AnnotationAssertion(rdfs:label "Oral cavity telangiectasia") @@ -20928,8 +20921,8 @@ AnnotationAssertion( "SNOMEDCT_US:66383009") AnnotationAssertion( "UMLS:C0017574") AnnotationAssertion(Annotation( ) "Gingival inflammation") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflamed gums") -AnnotationAssertion(Annotation( ) Annotation( ) "Red and swollen gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflamed gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Red and swollen gums") AnnotationAssertion( "HP:0000230") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Gingivitis") @@ -20947,12 +20940,12 @@ AnnotationAssertion( "HP:0009093") AnnotationAssertion( "UMLS:C1853246") AnnotationAssertion( "UMLS:C1866234") -AnnotationAssertion(Annotation( ) "Drooping lower lip") +AnnotationAssertion(Annotation( ) "Drooping lower lip") AnnotationAssertion(Annotation( ) "Eclabium of lower lip") AnnotationAssertion( "Everted lower lip") AnnotationAssertion( "Everted prominent lower lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned lower lip") -AnnotationAssertion(Annotation( ) "Protruding lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned lower lip") +AnnotationAssertion(Annotation( ) "Protruding lower lip") AnnotationAssertion( "HP:0000232") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term.") @@ -20967,9 +20960,9 @@ AnnotationAssertion(Annotation( "HP:0000213") AnnotationAssertion( "SNOMEDCT_US:301348000") AnnotationAssertion( "UMLS:C0578038") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased volume of lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased volume of lip") AnnotationAssertion(Annotation( ) "Decreased volume of lip vermillion") -AnnotationAssertion(Annotation( ) "Thin lips") +AnnotationAssertion(Annotation( ) "Thin lips") AnnotationAssertion( "Thin vermillion") AnnotationAssertion(Annotation( ) "Thin vermilion borders") AnnotationAssertion( "HP:0000233") @@ -20981,9 +20974,9 @@ SubClassOf( ) "An abnormality of the head.") AnnotationAssertion( "UMLS:C4021812") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal head") -AnnotationAssertion(Annotation( ) "Abnormality of the head") -AnnotationAssertion(Annotation( ) "Head abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal head") +AnnotationAssertion(Annotation( ) "Abnormality of the head") +AnnotationAssertion(Annotation( ) "Head abnormality") AnnotationAssertion( "HP:0000234") AnnotationAssertion(rdfs:label "Abnormality of the head") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21003,7 +20996,7 @@ SubClassOf( ) "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.") AnnotationAssertion( "UMLS:C4025875") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the forehead soft spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the forehead soft spot") AnnotationAssertion( "HP:0000236") AnnotationAssertion(rdfs:label "Abnormality of the anterior fontanelle") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21030,7 +21023,7 @@ AnnotationAssertion( "UMLS:C0020255") AnnotationAssertion( "Hydrocephaly") AnnotationAssertion( "Nonsyndromal hydrocephalus") -AnnotationAssertion(Annotation( ) Annotation( ) "Too much cerebrospinal fluid in the brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Too much cerebrospinal fluid in the brain") AnnotationAssertion( "HP:0000238") AnnotationAssertion(rdfs:comment "Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord.") AnnotationAssertion(rdfs:label "Hydrocephalus") @@ -21052,7 +21045,7 @@ AnnotationAssertion( "Large fontanelle") AnnotationAssertion( "Large fontanels") AnnotationAssertion( "Persistent wide fontanel") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide fontanelles") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide fontanelles") AnnotationAssertion(Annotation( ) "Large bregma sutures") AnnotationAssertion(Annotation( ) "Large, late-closing fontanelle") AnnotationAssertion(Annotation( ) "Wide bregma sutures") @@ -21065,10 +21058,10 @@ SubClassOf( (Abnormality of skull size) AnnotationAssertion(Annotation( ) "Any abnormality of the size of the skull.") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of head size") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of head size") AnnotationAssertion( "UMLS:C4025874") AnnotationAssertion(Annotation( ) "Abnormality of cranium size") -AnnotationAssertion(Annotation( ) "Abnormality of skull size") +AnnotationAssertion(Annotation( ) "Abnormality of skull size") AnnotationAssertion( "HP:0000240") AnnotationAssertion(rdfs:label "Abnormality of skull size") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21089,17 +21082,17 @@ SubClassOf( (Trigonocephaly) AnnotationAssertion(Annotation( "PMID:19125436") "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular head shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Wedge shaped head") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Wedge shaped head") AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:28740008") AnnotationAssertion( "UMLS:C0265535") AnnotationAssertion( "UMLS:C4280665") AnnotationAssertion( "UMLS:C4280666") AnnotationAssertion(Annotation( ) "Triangular cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular skull shape") AnnotationAssertion(Annotation( ) "Wedge shaped cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Wedge shaped skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Wedge shaped skull") AnnotationAssertion( "HP:0000243") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture.") @@ -21112,7 +21105,7 @@ SubClassOf( "PMID:8460563") "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.") AnnotationAssertion( "UMLS:C1857484") AnnotationAssertion(Annotation( "PMID:8460563") "Brachy-turricephaly") -AnnotationAssertion(Annotation( ) Annotation( ) "High, prominent forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "High, prominent forehead") AnnotationAssertion( "Turribrachycephaly") AnnotationAssertion( "HP:0000244") AnnotationAssertion(rdfs:label "Brachyturricephaly") @@ -21122,9 +21115,9 @@ SubClassOf( (Abnormal paranasal sinus morphology) AnnotationAssertion(Annotation( ) "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.") -AnnotationAssertion(Annotation( ) "Abnormality of the sinuses") +AnnotationAssertion(Annotation( ) "Abnormality of the sinuses") AnnotationAssertion( "UMLS:C4025873") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the sinuses of the head") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the sinuses of the head") AnnotationAssertion( "Abnormality of the paranasal sinuses") AnnotationAssertion( "HP:0000245") AnnotationAssertion(rdfs:label "Abnormal paranasal sinus morphology") @@ -21135,15 +21128,15 @@ SubClassOf( (Sinusitis) AnnotationAssertion(Annotation( ) "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.") -AnnotationAssertion(Annotation( ) "Sinus infection") +AnnotationAssertion(Annotation( ) "Sinus infection") AnnotationAssertion( "MSH:D010254") AnnotationAssertion( "MSH:D012852") AnnotationAssertion( "SNOMEDCT_US:36971009") AnnotationAssertion( "SNOMEDCT_US:7393007") AnnotationAssertion( "UMLS:C0030469") AnnotationAssertion( "UMLS:C0037199") -AnnotationAssertion(Annotation( ) Annotation( ) "Sinus inflammation") -AnnotationAssertion(Annotation( ) Annotation( ) "Sinus disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Sinus inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Sinus disease") AnnotationAssertion( "HP:0000246") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Sinusitis") @@ -21158,17 +21151,17 @@ AnnotationAssertion( "HP:0004479") AnnotationAssertion( "HP:0008512") AnnotationAssertion(Annotation( ) "Broad cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad head shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad skull shape") AnnotationAssertion(Annotation( ) "Wide cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide head shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide skull shape") AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:13649004") AnnotationAssertion( "UMLS:C0221356") AnnotationAssertion( "UMLS:C4072823") AnnotationAssertion( "UMLS:C4072824") -AnnotationAssertion(Annotation( ) Annotation( ) "Short and broad skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Short and broad skull") AnnotationAssertion( "HP:0000248") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately.") @@ -21180,7 +21173,7 @@ SubClassOf( ) "An abnormal increase of density of the bones making up the calvaria.") AnnotationAssertion( "UMLS:C1854834") -AnnotationAssertion(Annotation( ) Annotation( ) "Dense skull cap") +AnnotationAssertion(Annotation( ) Annotation( ) "Dense skull cap") AnnotationAssertion( "HP:0000250") AnnotationAssertion(rdfs:label "Dense calvaria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21194,20 +21187,20 @@ AnnotationAssertion( "HP:0005485") AnnotationAssertion( "HP:0005489") AnnotationAssertion( "HP:0005497") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small head") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of head") -AnnotationAssertion(Annotation( ) Annotation( ) "Small head") -AnnotationAssertion(Annotation( ) Annotation( ) "Small skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small head") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Small head") +AnnotationAssertion(Annotation( ) Annotation( ) "Small skull") AnnotationAssertion( "Fyler:4310") AnnotationAssertion( "SNOMEDCT_US:271611007") AnnotationAssertion( "UMLS:C4551563") AnnotationAssertion(Annotation( ) "Abnormally small cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased circumference of cranium") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased circumference of cranium") AnnotationAssertion(Annotation( ) "Decreased size of cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of skull") -AnnotationAssertion(Annotation( ) "Reduced head circumference") -AnnotationAssertion(Annotation( ) "Small head circumference") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of skull") +AnnotationAssertion(Annotation( ) "Reduced head circumference") +AnnotationAssertion(Annotation( ) "Small head circumference") AnnotationAssertion(Annotation( ) "small calvarium") AnnotationAssertion(Annotation( ) "small cranium") AnnotationAssertion( "HP:0000252") @@ -21223,8 +21216,8 @@ AnnotationAssertion(Annotation( "UMLS:C1850456") AnnotationAssertion( "Microcephaly, postnatal, progressive") AnnotationAssertion(Annotation( ) "Microcephaly, progressive") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally small cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally small skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally small cranium") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally small skull") AnnotationAssertion( "HP:0000253") AnnotationAssertion(rdfs:label "Progressive microcephaly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21246,23 +21239,23 @@ AnnotationAssertion(Annotation( "HP:0005491") AnnotationAssertion( "HP:0005496") AnnotationAssertion( "HP:0200135") -AnnotationAssertion(Annotation( ) Annotation( ) "Big calvaria") -AnnotationAssertion(Annotation( ) Annotation( ) "Big cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Big head") -AnnotationAssertion(Annotation( ) Annotation( ) "Big skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Big calvaria") +AnnotationAssertion(Annotation( ) Annotation( ) "Big cranium") +AnnotationAssertion(Annotation( ) Annotation( ) "Big head") +AnnotationAssertion(Annotation( ) Annotation( ) "Big skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of head") AnnotationAssertion(Annotation( ) "Large calvaria") AnnotationAssertion(Annotation( ) "Large cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Large skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Large skull") AnnotationAssertion( "Fyler:4335") AnnotationAssertion( "UMLS:C4083076") AnnotationAssertion( "UMLS:C4255213") AnnotationAssertion( "UMLS:C4280663") AnnotationAssertion( "UMLS:C4280664") AnnotationAssertion(Annotation( ) "Increased size of cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of skull") -AnnotationAssertion(Annotation( ) "Large head") -AnnotationAssertion(Annotation( ) "Large head circumference") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of skull") +AnnotationAssertion(Annotation( ) "Large head") +AnnotationAssertion(Annotation( ) "Large head circumference") AnnotationAssertion( "Macrocephalus") AnnotationAssertion( "Macrocrania") AnnotationAssertion(Annotation( ) "Megacephaly") @@ -21282,7 +21275,7 @@ AnnotationAssertion( "Large open anterior fontanelle") AnnotationAssertion( "Wide anterior fontanelle") AnnotationAssertion( "Wide open anterior fontanelle") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Wider-than-typical soft spot of skull") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Wider-than-typical soft spot of skull") AnnotationAssertion(Annotation( ) "Large anterior fontanels") AnnotationAssertion( "HP:0000260") AnnotationAssertion(rdfs:label "Wide anterior fontanel") @@ -21294,14 +21287,14 @@ SubClassOf( "PMID:19125436") "Tall head relative to width and length.") AnnotationAssertion( "HP:0001356") -AnnotationAssertion(Annotation( ) Annotation( ) "Tall shaped head") +AnnotationAssertion(Annotation( ) Annotation( ) "Tall shaped head") AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:48069004") AnnotationAssertion( "UMLS:C0030044") AnnotationAssertion(Annotation( ) "Tall shaped cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Tall shaped skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Tall shaped skull") AnnotationAssertion(Annotation( ) "Tower cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Tower skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Tower skull shape") AnnotationAssertion( "Turricephalus") AnnotationAssertion( "HP:0000262") AnnotationAssertion( ) @@ -21343,8 +21336,8 @@ SubClassOf( (Cranial asymmetry) AnnotationAssertion(Annotation( ) "Asymmetry of the bones of the skull.") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of head") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven head shape") AnnotationAssertion( "UMLS:C1860245") AnnotationAssertion( "UMLS:C4280258") AnnotationAssertion( "UMLS:C4280657") @@ -21357,10 +21350,10 @@ AnnotationAssertion(Annotation( ) "Cranial vault asymmetry") AnnotationAssertion(Annotation( ) "Abnormality of cranial vault shape") AnnotationAssertion(Annotation( ) "Abnormality of cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of head shape") AnnotationAssertion(Annotation( ) "Malformation of cranial vault shape") AnnotationAssertion(Annotation( ) "Malformation of cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of head shape") AnnotationAssertion( "HP:0000267") AnnotationAssertion(rdfs:label "Cranial asymmetry") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21372,8 +21365,8 @@ AnnotationAssertion(Annotation( "HP:0000258") AnnotationAssertion( "HP:0005440") AnnotationAssertion(Annotation( ) "Narrow cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow head shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow head shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow skull shape") AnnotationAssertion( "Turridolichocephaly") AnnotationAssertion( "SNOMEDCT_US:72239002") AnnotationAssertion( "UMLS:C0221358") @@ -21381,8 +21374,8 @@ AnnotationAssertion( "UMLS:C4280654") AnnotationAssertion( "UMLS:C4280655") AnnotationAssertion( "UMLS:C4280656") -AnnotationAssertion(Annotation( ) Annotation( ) "Long, narrow head") -AnnotationAssertion(Annotation( ) Annotation( ) "Tall and narrow skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Long, narrow head") +AnnotationAssertion(Annotation( ) Annotation( ) "Tall and narrow skull") AnnotationAssertion( "Large dolichocephalic skull") AnnotationAssertion( "HP:0000268") AnnotationAssertion( ) @@ -21395,14 +21388,14 @@ SubClassOf( "PMID:19125436") "Increased convexity of the occiput (posterior part of the skull).") AnnotationAssertion( "HP:0004489") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent back of the head") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent posterior head") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding back of the head") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent back of the head") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent posterior head") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding back of the head") AnnotationAssertion( "UMLS:C1853737") AnnotationAssertion( "UMLS:C4280652") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent back of the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent back of the skull") AnnotationAssertion(Annotation( ) "Prominent posterior cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent posterior skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent posterior skull") AnnotationAssertion(Annotation( ) "Protruding occiput") AnnotationAssertion( "HP:0000269") AnnotationAssertion( ) @@ -21423,7 +21416,7 @@ AnnotationAssertion( "Delayed closure of fontanelles") AnnotationAssertion(Annotation( ) "Delayed closure of fontanels") AnnotationAssertion( "Delayed closure of the fontanelles") -AnnotationAssertion(Annotation( ) "Delayed cranial suture closure") +AnnotationAssertion(Annotation( ) "Delayed cranial suture closure") AnnotationAssertion( "Delayed fontanel closure") AnnotationAssertion( "Delayed fontanelle closure") AnnotationAssertion( "Late closing fontanelles") @@ -21441,7 +21434,7 @@ AnnotationAssertion(Annotation( ) "Abnormality of the countenance") AnnotationAssertion(Annotation( ) "Abnormality of the physiognomy") AnnotationAssertion(Annotation( ) "Abnormality of the visage") -AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of face") AnnotationAssertion( "SNOMEDCT_US:118930001") AnnotationAssertion( "SNOMEDCT_US:32003007") AnnotationAssertion( "SNOMEDCT_US:398206004") @@ -21449,10 +21442,10 @@ AnnotationAssertion( "UMLS:C0266617") AnnotationAssertion( "UMLS:C1290857") AnnotationAssertion( "UMLS:C4025871") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal face") -AnnotationAssertion(Annotation( ) "Abnormality of the face") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal face") +AnnotationAssertion(Annotation( ) "Abnormality of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of the face") AnnotationAssertion(Annotation( ) "Anomaly of face") AnnotationAssertion(Annotation( ) "Anomaly of the face") AnnotationAssertion(Annotation( ) "Facial anomaly") @@ -21481,7 +21474,7 @@ AnnotationAssertion( ) "Flat cheekbone") AnnotationAssertion( "Malar hypoplasia") AnnotationAssertion(Annotation( ) "Underdevelopment of malar bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Zygomatic flattening") +AnnotationAssertion(Annotation( ) Annotation( ) "Zygomatic flattening") AnnotationAssertion(Annotation( ) "Hypotrophic malar bone") AnnotationAssertion( "HP:0000272") AnnotationAssertion( ) @@ -21494,7 +21487,7 @@ SubClassOf( "SNOMEDCT_US:37126005") AnnotationAssertion( "UMLS:C0234853") -AnnotationAssertion(Annotation( ) "Facial grimacing") +AnnotationAssertion(Annotation( ) "Facial grimacing") AnnotationAssertion( "HP:0000273") AnnotationAssertion(rdfs:label "Facial grimacing") SubClassOf( ) @@ -21507,9 +21500,9 @@ AnnotationAssertion(Annotation( ) "Hypoplasia of face") AnnotationAssertion(Annotation( ) "Microface") AnnotationAssertion(Annotation( ) "Microfacies") -AnnotationAssertion(Annotation( ) Annotation( ) "Short and narrow face") -AnnotationAssertion(Annotation( ) "Small face") -AnnotationAssertion(Annotation( ) Annotation( ) "Small facies") +AnnotationAssertion(Annotation( ) Annotation( ) "Short and narrow face") +AnnotationAssertion(Annotation( ) "Small face") +AnnotationAssertion(Annotation( ) Annotation( ) "Small facies") AnnotationAssertion( "HP:0000274") AnnotationAssertion(rdfs:comment "This term represents a combination of two terms, short face and narrow face.") AnnotationAssertion(rdfs:label "Small face") @@ -21522,20 +21515,20 @@ AnnotationAssertion(Annotation( "HP:0000318") AnnotationAssertion( "UMLS:C1837463") AnnotationAssertion( "UMLS:C1849121") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased breadth of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased breadth of face") AnnotationAssertion(Annotation( ) "Decreased horizontal dimension of face") AnnotationAssertion(Annotation( ) "Decreased transverse dimension of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of face") AnnotationAssertion(Annotation( ) "Horizontal deficiency of face") AnnotationAssertion(Annotation( ) "Horizontal hypoplasia of face") AnnotationAssertion(Annotation( ) "Horizontal insufficiency of face") -AnnotationAssertion(Annotation( ) "Narrow face") +AnnotationAssertion(Annotation( ) "Narrow face") AnnotationAssertion( "Narrow facies") AnnotationAssertion(Annotation( ) "Thin facies") AnnotationAssertion(Annotation( ) "Transverse deficiency of face") AnnotationAssertion(Annotation( ) "Transverse hypoplasia of face") AnnotationAssertion(Annotation( ) "Transverse insufficiency of face") -AnnotationAssertion(Annotation( ) "Thin face") +AnnotationAssertion(Annotation( ) "Thin face") AnnotationAssertion( "HP:0000275") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible.") @@ -21548,18 +21541,18 @@ SubClassOf( "PMID:19125436") "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).") AnnotationAssertion( "HP:0000334") AnnotationAssertion( "UMLS:C1836047") -AnnotationAssertion(Annotation( ) Annotation( ) "Elongation of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Elongation of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of face") AnnotationAssertion(Annotation( ) "Increased vertical dimension of face") -AnnotationAssertion(Annotation( ) "Long face") +AnnotationAssertion(Annotation( ) "Long face") AnnotationAssertion(Annotation( ) "Long facies") AnnotationAssertion(Annotation( ) "Vertical Facial Excess") -AnnotationAssertion(Annotation( ) Annotation( ) "Vertical elongation of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Vertical enlargement of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Vertical elongation of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Vertical enlargement of face") AnnotationAssertion(Annotation( ) "Vertical excess of face") AnnotationAssertion(Annotation( ) "Vertical hyperplasia of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Vertical overgrowth of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Vertical overgrowth of face") AnnotationAssertion( "HP:0000276") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face.") @@ -21572,12 +21565,12 @@ SubClassOf( ) "Any abnormality of the mandible, the bone of the lower jaw.") AnnotationAssertion( "HP:0000209") AnnotationAssertion( "UMLS:C4025870") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the lower jaw bone") -AnnotationAssertion(Annotation( ) "Abnormality of the mandible") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the lower jaw bone") +AnnotationAssertion(Annotation( ) "Abnormality of the mandible") AnnotationAssertion(Annotation( ) "Anomaly of the mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the lower jaw bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the lower jaw bone") AnnotationAssertion(Annotation( ) "Deformity of the mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the lower jaw bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the lower jaw bone") AnnotationAssertion(Annotation( ) "Malformation of the mandible") AnnotationAssertion( "HP:0000277") AnnotationAssertion( ) @@ -21593,12 +21586,12 @@ AnnotationAssertion( "MSH:D063173") AnnotationAssertion( "UMLS:C3494422") AnnotationAssertion( "Lower jaw retrognathia") -AnnotationAssertion(Annotation( ) "Receding chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Receding lower jaw") +AnnotationAssertion(Annotation( ) "Receding chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Receding lower jaw") AnnotationAssertion( "Receding mandible") AnnotationAssertion(Annotation( ) "Retrognathia of lower jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Weak chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Weak jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Weak chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Weak jaw") AnnotationAssertion(Annotation( ) "Retrogenia") AnnotationAssertion( "HP:0000278") AnnotationAssertion( ) @@ -21614,11 +21607,11 @@ AnnotationAssertion( "UMLS:C1845847") AnnotationAssertion( "UMLS:C4072825") AnnotationAssertion( "Coarse face") -AnnotationAssertion(Annotation( ) Annotation( ) "Coarse facial appearance") -AnnotationAssertion(Annotation( ) "Coarse facial features") +AnnotationAssertion(Annotation( ) Annotation( ) "Coarse facial appearance") +AnnotationAssertion(Annotation( ) "Coarse facial features") AnnotationAssertion( "Coarse facies") -AnnotationAssertion(Annotation( ) Annotation( ) "Rounded and heavy facial features") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickened facial skin with coarse facial features") +AnnotationAssertion(Annotation( ) Annotation( ) "Rounded and heavy facial features") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickened facial skin with coarse facial features") AnnotationAssertion( "HP:0000280") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Coarse facial features") @@ -21630,8 +21623,8 @@ SubClassOf( "SNOMEDCT_US:445088006") AnnotationAssertion( "UMLS:C0542571") AnnotationAssertion(Annotation( ) "Facial oedema") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial puffiness") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial swelling") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial puffiness") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial swelling") AnnotationAssertion( "HP:0000282") AnnotationAssertion(rdfs:label "Facial edema") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21642,17 +21635,17 @@ SubClassOf( "PMID:19125436") "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).") AnnotationAssertion( "UMLS:C1859680") -AnnotationAssertion(Annotation( ) "Broad face") +AnnotationAssertion(Annotation( ) "Broad face") AnnotationAssertion(Annotation( ) "Broad facies") AnnotationAssertion(Annotation( ) "Horizontal excess of face") AnnotationAssertion(Annotation( ) "Horizontal hyperplasia of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of face") AnnotationAssertion(Annotation( ) "Increased horizontal dimension of face") AnnotationAssertion(Annotation( ) "Increased transverse dimension of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of face") AnnotationAssertion(Annotation( ) "Transverse excess of face") AnnotationAssertion(Annotation( ) "Transverse hyperplasia of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide face") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide face") AnnotationAssertion(Annotation( ) "Wide facies") AnnotationAssertion( "HP:0000283") AnnotationAssertion( ) @@ -21677,10 +21670,10 @@ AnnotationAssertion( "Epicanthal fold") AnnotationAssertion( "Epicanthal folds") AnnotationAssertion( "Epicanthic folds") -AnnotationAssertion(Annotation( ) Annotation( ) "Eye folds") +AnnotationAssertion(Annotation( ) Annotation( ) "Eye folds") AnnotationAssertion(Annotation( ) "Palpebronasal fold") AnnotationAssertion(Annotation( ) "Plica palpebronasalis") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent eye folds") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent eye folds") AnnotationAssertion( "HP:0000286") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris.") @@ -21695,7 +21688,7 @@ AnnotationAssertion( "UMLS:C4280649") AnnotationAssertion( "UMLS:C4280650") AnnotationAssertion(Annotation( ) "Increased amount of facial adipose tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased amount of facial fat") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased amount of facial fat") AnnotationAssertion(Annotation( ) "Increased volume of facial adipose tissue") AnnotationAssertion(Annotation( ) "Facial fat hyperplasia") AnnotationAssertion(Annotation( ) "Facial fat hypertrophy") @@ -21741,11 +21734,11 @@ SubClassOf( ) "An anomaly of the forehead.") AnnotationAssertion( "UMLS:C4025867") -AnnotationAssertion(Annotation( ) "Abnormality of the forehead") +AnnotationAssertion(Annotation( ) "Abnormality of the forehead") AnnotationAssertion(Annotation( ) "Abnormality of the frontal region of the face") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the forehead") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the forehead") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the forehead") AnnotationAssertion( "HP:0000290") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the forehead") @@ -21755,7 +21748,7 @@ SubClassOf( (Abnormality of facial adipose tissue) AnnotationAssertion( "UMLS:C4025866") -AnnotationAssertion(Annotation( ) "Abnormality of facial fat") +AnnotationAssertion(Annotation( ) "Abnormality of facial fat") AnnotationAssertion(Annotation( ) "Deformity of facial adipose tissue") AnnotationAssertion(Annotation( ) "Malformation of facial adipose tissue") AnnotationAssertion( "HP:0000291") @@ -21769,9 +21762,9 @@ SubClassOf( ) "Loss of normal subcutaneous fat tissue in the face.") AnnotationAssertion( "UMLS:C1837767") AnnotationAssertion(Annotation( ) "Decreased amount of facial adipose tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased amount of facial fat") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased amount of facial fat") AnnotationAssertion(Annotation( ) "Decreased volume of facial adipose tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of facial fat") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of facial fat") AnnotationAssertion( "Loss of facial subcutaneous adipose tissue") AnnotationAssertion( "Loss of subcutaneous adipose tissue from face") AnnotationAssertion( "HP:0000292") @@ -21790,15 +21783,15 @@ AnnotationAssertion( "UMLS:C3806443") AnnotationAssertion( "UMLS:C4280647") AnnotationAssertion( "UMLS:C4280648") -AnnotationAssertion(Annotation( ) "Apple cheeks") -AnnotationAssertion(Annotation( ) "Big cheeks") -AnnotationAssertion(Annotation( ) "Full cheeks") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of cheeks") -AnnotationAssertion(Annotation( ) "Large cheeks") -AnnotationAssertion(Annotation( ) Annotation( ) "Chubby cheeks") +AnnotationAssertion(Annotation( ) "Apple cheeks") +AnnotationAssertion(Annotation( ) "Big cheeks") +AnnotationAssertion(Annotation( ) "Full cheeks") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of cheeks") +AnnotationAssertion(Annotation( ) "Large cheeks") +AnnotationAssertion(Annotation( ) Annotation( ) "Chubby cheeks") AnnotationAssertion(Annotation( ) "Hyperplasia of cheeks") AnnotationAssertion(Annotation( ) "Hypertrophy of cheeks") -AnnotationAssertion(Annotation( ) Annotation( ) "Puffy cheeks") +AnnotationAssertion(Annotation( ) Annotation( ) "Puffy cheeks") AnnotationAssertion( "HP:0000293") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Full cheeks") @@ -21809,8 +21802,8 @@ SubClassOf( "PMID:19125436") "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.") AnnotationAssertion( "UMLS:C1842366") -AnnotationAssertion(Annotation( ) "Low frontal hairline") -AnnotationAssertion(Annotation( ) "Low-set frontal hairline") +AnnotationAssertion(Annotation( ) "Low frontal hairline") +AnnotationAssertion(Annotation( ) "Low-set frontal hairline") AnnotationAssertion( "HP:0000294") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair.") @@ -21821,7 +21814,7 @@ SubClassOf( ) "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.") AnnotationAssertion( "UMLS:C1856361") -AnnotationAssertion(Annotation( ) Annotation( ) "Doll-like facial appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Doll-like facial appearance") AnnotationAssertion( "HP:0000295") AnnotationAssertion(rdfs:comment "This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely.") AnnotationAssertion(rdfs:label "Doll-like facies") @@ -21832,10 +21825,10 @@ SubClassOf( ) "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).") AnnotationAssertion( "UMLS:C1845251") AnnotationAssertion( "UMLS:C4280646") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial muscle tone") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial muscle tone") AnnotationAssertion( "Hypotonic facies") -AnnotationAssertion(Annotation( ) Annotation( ) "Low facial muscle tone") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced facial muscle tone") +AnnotationAssertion(Annotation( ) Annotation( ) "Low facial muscle tone") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced facial muscle tone") AnnotationAssertion(Annotation( ) "Atony of facial musculature") AnnotationAssertion( "HP:0000297") AnnotationAssertion(rdfs:label "Facial hypotonia") @@ -21849,9 +21842,9 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:103606006") AnnotationAssertion( "UMLS:C0424448") AnnotationAssertion( "Amimia") -AnnotationAssertion(Annotation( ) "Expressionless face") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of facial expression") -AnnotationAssertion(Annotation( ) Annotation( ) "Mask-like facial appearance") +AnnotationAssertion(Annotation( ) "Expressionless face") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of facial expression") +AnnotationAssertion(Annotation( ) Annotation( ) "Mask-like facial appearance") AnnotationAssertion( "Masklike facies") AnnotationAssertion( "HP:0000298") AnnotationAssertion(rdfs:comment "Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy.") @@ -21862,8 +21855,8 @@ SubClassOf( ) "A face with a rounded and slightly elongated outline.") AnnotationAssertion( "UMLS:C1849025") -AnnotationAssertion(Annotation( ) "Oval face") -AnnotationAssertion(Annotation( ) Annotation( ) "Oval facial shape") +AnnotationAssertion(Annotation( ) "Oval face") +AnnotationAssertion(Annotation( ) Annotation( ) "Oval facial shape") AnnotationAssertion(Annotation( ) "Oval facies") AnnotationAssertion( "HP:0000300") AnnotationAssertion(rdfs:label "Oval face") @@ -21874,8 +21867,8 @@ SubClassOf( ) "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).") AnnotationAssertion( "UMLS:C4025865") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of facial muscles") -AnnotationAssertion(Annotation( ) "Facial muscle issue") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of facial muscles") +AnnotationAssertion(Annotation( ) "Facial muscle issue") AnnotationAssertion( "HP:0000301") AnnotationAssertion(rdfs:comment "Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure.") AnnotationAssertion(rdfs:label "Abnormality of facial musculature") @@ -21903,15 +21896,15 @@ AnnotationAssertion( "UMLS:C2227134") AnnotationAssertion( "UMLS:C4280644") AnnotationAssertion( "UMLS:C4280645") -AnnotationAssertion(Annotation( ) "Big lower jaw") +AnnotationAssertion(Annotation( ) "Big lower jaw") AnnotationAssertion( "Big mandible") AnnotationAssertion( "Enlarged mandible") AnnotationAssertion( "Enlargement of mandible") AnnotationAssertion( "Hyperplasia of lower jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased projection of lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased projection of lower jaw") AnnotationAssertion(Annotation( ) "Increased projection of mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of lower jaw") -AnnotationAssertion(Annotation( ) "Large lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of lower jaw") +AnnotationAssertion(Annotation( ) "Large lower jaw") AnnotationAssertion( "Large mandible") AnnotationAssertion( "Lower jaw excess") AnnotationAssertion( "Lower jaw hyperplasia") @@ -21923,12 +21916,12 @@ AnnotationAssertion( "Mandibular prognathism") AnnotationAssertion( "Prognathia") AnnotationAssertion( "Prognathism") -AnnotationAssertion(Annotation( ) "Prominent chin") +AnnotationAssertion(Annotation( ) "Prominent chin") AnnotationAssertion( "Prominent jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent lower jaw") AnnotationAssertion(Annotation( ) "Prominent mandible") AnnotationAssertion( "Relative mandibular prognathism") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of mandible") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of mandible") AnnotationAssertion( "HP:0000303") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Mandibular prognathia") @@ -21940,11 +21933,11 @@ SubClassOf( ) Annotation( "PMID:19125436") "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.") AnnotationAssertion( "UMLS:C4025864") -AnnotationAssertion(Annotation( ) "Abnormality of the chin") +AnnotationAssertion(Annotation( ) "Abnormality of the chin") AnnotationAssertion(Annotation( ) "Abnormality of the menton") -AnnotationAssertion(Annotation( ) "Anomaly of the chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the chin") +AnnotationAssertion(Annotation( ) "Anomaly of the chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the chin") AnnotationAssertion( "HP:0000306") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the chin") @@ -21956,11 +21949,11 @@ SubClassOf( "PMID:19125436") "A marked tapering of the lower face to the chin.") AnnotationAssertion( "HP:0005330") AnnotationAssertion( "UMLS:C1844505") -AnnotationAssertion(Annotation( ) "Pointed chin") +AnnotationAssertion(Annotation( ) "Pointed chin") AnnotationAssertion(Annotation( ) "Pointed mention region") -AnnotationAssertion(Annotation( ) "Pointy chin") -AnnotationAssertion(Annotation( ) "Small pointed chin") -AnnotationAssertion(Annotation( ) "Witch's chin") +AnnotationAssertion(Annotation( ) "Pointy chin") +AnnotationAssertion(Annotation( ) "Small pointed chin") +AnnotationAssertion(Annotation( ) "Witch's chin") AnnotationAssertion( "HP:0000307") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The two rami of the mandible meet at an acute angle.") @@ -21973,7 +21966,7 @@ SubClassOf( ) "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.") AnnotationAssertion( "UMLS:C1839546") AnnotationAssertion( "Retromicrognathia") -AnnotationAssertion(Annotation( ) Annotation( ) "Small retruded chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Small retruded chin") AnnotationAssertion( "HP:0000308") AnnotationAssertion(rdfs:label "Microretrognathia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -21986,10 +21979,10 @@ AnnotationAssertion(Annotation( "HP:0430026") AnnotationAssertion( "UMLS:C4021811") AnnotationAssertion( "Abnormal morphology of the midface") -AnnotationAssertion(Annotation( ) "Abnormality of the midface") +AnnotationAssertion(Annotation( ) "Abnormality of the midface") AnnotationAssertion( "Anomaly of the midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the midface") AnnotationAssertion( "HP:0000309") AnnotationAssertion(rdfs:label "Abnormal midface morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -22003,10 +21996,10 @@ AnnotationAssertion( "Round, full face") AnnotationAssertion( "UMLS:C0239479") AnnotationAssertion( "UMLS:C1856468") -AnnotationAssertion(Annotation( ) Annotation( ) "Circular face") -AnnotationAssertion(Annotation( ) "Round face") -AnnotationAssertion(Annotation( ) "Round facial appearance") -AnnotationAssertion(Annotation( ) Annotation( ) "Round facial shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Circular face") +AnnotationAssertion(Annotation( ) "Round face") +AnnotationAssertion(Annotation( ) "Round facial appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Round facial shape") AnnotationAssertion( "Round facies") AnnotationAssertion( "HP:0000311") AnnotationAssertion( ) @@ -22018,8 +22011,8 @@ SubClassOf( "HP:0000284") AnnotationAssertion( "UMLS:C4025863") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the eye region") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the eye region") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the eyes") AnnotationAssertion(Annotation( ) "Anomaly of the orbital region of the face") AnnotationAssertion(Annotation( ) "Deformity of the orbital region of the face") AnnotationAssertion(Annotation( ) "Malformation of the orbital region of the face") @@ -22044,8 +22037,8 @@ AnnotationAssertion(Annotation( ) "Increased distance between eyes") AnnotationAssertion( "Increased interpupillary distance") AnnotationAssertion( "Ocular hypertelorism") -AnnotationAssertion(Annotation( ) "Wide-set eyes") -AnnotationAssertion(Annotation( ) "Widely spaced eyes") +AnnotationAssertion(Annotation( ) "Wide-set eyes") +AnnotationAssertion(Annotation( ) "Widely spaced eyes") AnnotationAssertion( "Widened interpupillary distance") AnnotationAssertion( "HP:0000316") AnnotationAssertion( ) @@ -22061,7 +22054,7 @@ AnnotationAssertion( "SNOMEDCT_US:1070000") AnnotationAssertion( "UMLS:C0270871") AnnotationAssertion( "Involuntary facial contraction") -AnnotationAssertion(Annotation( ) "Involuntary facial quivering") +AnnotationAssertion(Annotation( ) "Involuntary facial quivering") AnnotationAssertion( "HP:0000317") AnnotationAssertion(rdfs:comment "Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.") AnnotationAssertion(rdfs:label "Facial myokymia") @@ -22091,7 +22084,7 @@ SubClassOf( (Bird-like facies) AnnotationAssertion( "UMLS:C1837758") -AnnotationAssertion(Annotation( ) Annotation( ) "Bird-like facial appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Bird-like facial appearance") AnnotationAssertion( "HP:0000320") AnnotationAssertion(rdfs:label "Bird-like facies") SubClassOf( ) @@ -22100,8 +22093,8 @@ SubClassOf( "PMID:19125436") "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.") AnnotationAssertion( "UMLS:C1832127") -AnnotationAssertion(Annotation( ) "Square face") -AnnotationAssertion(Annotation( ) Annotation( ) "Square facial shape") +AnnotationAssertion(Annotation( ) "Square face") +AnnotationAssertion(Annotation( ) Annotation( ) "Square facial shape") AnnotationAssertion(Annotation( ) "Square facies") AnnotationAssertion( "HP:0000321") AnnotationAssertion(rdfs:label "Square face") @@ -22131,15 +22124,15 @@ AnnotationAssertion( "SNOMEDCT_US:15253005") AnnotationAssertion( "UMLS:C1306710") AnnotationAssertion( "Asymmetric facies") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of face") AnnotationAssertion( "Asymmetry of right and left side of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked face") -AnnotationAssertion(Annotation( ) "Facial asymmetry") -AnnotationAssertion(Annotation( ) Annotation( ) "Unsymmetrical face") -AnnotationAssertion(Annotation( ) Annotation( ) "Unbalanced face") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal sides of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven face") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven sides of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked face") +AnnotationAssertion(Annotation( ) "Facial asymmetry") +AnnotationAssertion(Annotation( ) Annotation( ) "Unsymmetrical face") +AnnotationAssertion(Annotation( ) Annotation( ) "Unbalanced face") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal sides of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven face") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven sides of face") AnnotationAssertion( "HP:0000324") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Facial asymmetry") @@ -22153,9 +22146,9 @@ AnnotationAssertion( "HP:0004662") AnnotationAssertion( "HP:0004668") AnnotationAssertion( "UMLS:C1835884") -AnnotationAssertion(Annotation( ) Annotation( ) "Face with broad temples and narrow chin") -AnnotationAssertion(Annotation( ) "Triangular face") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular facial shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Face with broad temples and narrow chin") +AnnotationAssertion(Annotation( ) "Triangular face") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular facial shape") AnnotationAssertion( "Triangular facies") AnnotationAssertion( "HP:0000325") AnnotationAssertion( ) @@ -22167,13 +22160,13 @@ SubClassOf( ) "An abnormality of the Maxilla (upper jaw bone).") AnnotationAssertion( "UMLS:C4025862") AnnotationAssertion( "Abnormality of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the upper jaw bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the upper jaw bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the upper jaw bones") AnnotationAssertion(Annotation( ) "Anomaly of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the maxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the upper jaw bones") AnnotationAssertion(Annotation( ) "Malformation of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the upper jaw bones") AnnotationAssertion( "HP:0000326") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal maxilla morphology") @@ -22184,28 +22177,28 @@ SubClassOf( ) "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.") AnnotationAssertion( "HP:0004644") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of upper jaw bones") AnnotationAssertion( "UMLS:C0240310") AnnotationAssertion( "UMLS:C4082243") AnnotationAssertion( "UMLS:C4280640") AnnotationAssertion( "UMLS:C4280641") AnnotationAssertion( "UMLS:C4280642") AnnotationAssertion( "UMLS:C4280643") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of maxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of upper jaw") AnnotationAssertion(Annotation( ) "Hypoplasia of upper jaw bones") AnnotationAssertion( "Hypoplastic maxillary bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Maxillary deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Maxillary deficiency") AnnotationAssertion(Annotation( ) "Maxillary hypoplasia") AnnotationAssertion(Annotation( ) "Maxillary micrognathia") AnnotationAssertion(Annotation( ) "Maxillary retrognathia") -AnnotationAssertion(Annotation( ) Annotation( ) "Maxillary retrusion") +AnnotationAssertion(Annotation( ) Annotation( ) "Maxillary retrusion") AnnotationAssertion(Annotation( ) "Micromaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Small maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Small upper jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Small upper jaw bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Upper jaw deficiency") -AnnotationAssertion(Annotation( ) Annotation( ) "Upper jaw retrusion") +AnnotationAssertion(Annotation( ) Annotation( ) "Small maxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Small upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Small upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Upper jaw deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Upper jaw retrusion") AnnotationAssertion(Annotation( ) "Decreased projection of maxilla") AnnotationAssertion(Annotation( ) "Decreased projection of upper jaw") AnnotationAssertion(Annotation( ) "Hypotrophic maxilla") @@ -22235,12 +22228,12 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:699439001") AnnotationAssertion( "UMLS:C1839323") AnnotationAssertion( "UMLS:C3697248") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased height of chin") -AnnotationAssertion(Annotation( ) "Short chin") -AnnotationAssertion(Annotation( ) "Short lower third of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased height of chin") +AnnotationAssertion(Annotation( ) "Short chin") +AnnotationAssertion(Annotation( ) "Short lower third of face") AnnotationAssertion(Annotation( ) "Vertical deficiency of chin") AnnotationAssertion( "Vertical hypoplasia of chin") -AnnotationAssertion(Annotation( ) "Small chin") +AnnotationAssertion(Annotation( ) "Small chin") AnnotationAssertion( "HP:0000331") AnnotationAssertion(rdfs:comment "The term \"micrognathia\" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension).") AnnotationAssertion(rdfs:label "Short chin") @@ -22255,7 +22248,7 @@ AnnotationAssertion( "UMLS:C4280637") AnnotationAssertion( "UMLS:C4280638") AnnotationAssertion( "UMLS:C4280639") -AnnotationAssertion(Annotation( ) "Prominent brow") +AnnotationAssertion(Annotation( ) "Prominent brow") AnnotationAssertion(Annotation( ) "Prominent supraorbital margins") AnnotationAssertion( "Prominent supraorbital ridge") AnnotationAssertion( "Protruding supraorbital ridge") @@ -22276,12 +22269,12 @@ AnnotationAssertion( "HP:0000354") AnnotationAssertion( "UMLS:C1849089") AnnotationAssertion(Annotation( ) "Bitemporal widening") -AnnotationAssertion(Annotation( ) "Broad forehead") +AnnotationAssertion(Annotation( ) "Broad forehead") AnnotationAssertion( "Increased bitemporal dimension") AnnotationAssertion( "Increased bitemporal width") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of the forehead") AnnotationAssertion(Annotation( ) "Intertemporal widening") -AnnotationAssertion(Annotation( ) "Wide forehead") +AnnotationAssertion(Annotation( ) "Wide forehead") AnnotationAssertion( "HP:0000337") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead.") @@ -22297,10 +22290,10 @@ AnnotationAssertion( "UMLS:C0813217") AnnotationAssertion( "UMLS:C1862474") AnnotationAssertion( "UMLS:C4280635") -AnnotationAssertion(Annotation( ) "Dull facial expression") +AnnotationAssertion(Annotation( ) "Dull facial expression") AnnotationAssertion(Annotation( ) "Hypomimia") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial expressions") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial muscle movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial expressions") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial muscle movement") AnnotationAssertion( "HP:0000338") AnnotationAssertion(rdfs:comment "The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal.") AnnotationAssertion(rdfs:label "Hypomimic face") @@ -22311,7 +22304,7 @@ SubClassOf( ) "Coarse facial features reminiscent of those of a boxer.") AnnotationAssertion( "UMLS:C1846011") -AnnotationAssertion(Annotation( ) Annotation( ) "Boxer-like facial appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Boxer-like facial appearance") AnnotationAssertion(Annotation( ) "Pugilistic facial appearance") AnnotationAssertion( "HP:0000339") AnnotationAssertion(rdfs:label "Pugilistic facies") @@ -22325,10 +22318,10 @@ AnnotationAssertion( "HP:0008493") AnnotationAssertion( "HP:0008500") AnnotationAssertion( "UMLS:C1857679") -AnnotationAssertion(Annotation( ) "Inclined forehead") +AnnotationAssertion(Annotation( ) "Inclined forehead") AnnotationAssertion(Annotation( ) "Posteriorly sloping forehead") -AnnotationAssertion(Annotation( ) "Receding forehead") -AnnotationAssertion(Annotation( ) "Sloping forehead") +AnnotationAssertion(Annotation( ) "Receding forehead") +AnnotationAssertion(Annotation( ) "Sloping forehead") AnnotationAssertion( "HP:0000340") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical.") @@ -22346,11 +22339,11 @@ AnnotationAssertion( "Bitemporal narrowing") AnnotationAssertion( "Bitemporal narrowness") AnnotationAssertion( "Bitemporal skull narrowing") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of the forehead") AnnotationAssertion( "Intertemporal narrowing") AnnotationAssertion( "Narrow bitemporal diameter") AnnotationAssertion( "Narrow bitemporal width") -AnnotationAssertion(Annotation( ) "Narrow forehead") +AnnotationAssertion(Annotation( ) "Narrow forehead") AnnotationAssertion( "Temporal narrowness") AnnotationAssertion( "HP:0000341") AnnotationAssertion( ) @@ -22378,8 +22371,8 @@ SubClassOf( ) Annotation( "PMID:856233") "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.") AnnotationAssertion( "UMLS:C1848473") -AnnotationAssertion(Annotation( ) "Whistling appearance") -AnnotationAssertion(Annotation( ) Annotation( ) "Whistling facial appearance") +AnnotationAssertion(Annotation( ) "Whistling appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Whistling facial appearance") AnnotationAssertion( "HP:0000346") AnnotationAssertion(rdfs:label "Whistling appearance") SubClassOf( ) @@ -22410,7 +22403,7 @@ AnnotationAssertion( "Hypoplastic mandible condyle") AnnotationAssertion(Annotation( ) "Hypotrophic lower jaw") AnnotationAssertion(Annotation( ) "Hypotrophic mandible") -AnnotationAssertion(Annotation( ) "Little lower jaw") +AnnotationAssertion(Annotation( ) "Little lower jaw") AnnotationAssertion( "Little mandible") AnnotationAssertion( "Lower jaw deficiency") AnnotationAssertion(Annotation( ) "Lower jaw hypoplasia") @@ -22424,8 +22417,8 @@ AnnotationAssertion( "Micromandible") AnnotationAssertion( "Robin mandible") AnnotationAssertion( "Severe hypoplasia of mandible") -AnnotationAssertion(Annotation( ) "Small jaw") -AnnotationAssertion(Annotation( ) "Small lower jaw") +AnnotationAssertion(Annotation( ) "Small jaw") +AnnotationAssertion(Annotation( ) "Small lower jaw") AnnotationAssertion( "Small mandible") AnnotationAssertion( "Underdevelopment of lower jaw") AnnotationAssertion( "Underdevelopment of mandible") @@ -22445,8 +22438,8 @@ AnnotationAssertion(Annotation( "HP:0000342") AnnotationAssertion( "UMLS:C0239676") AnnotationAssertion( "UMLS:C2677762") -AnnotationAssertion(Annotation( ) "High forehead") -AnnotationAssertion(Annotation( ) Annotation( ) "Tall forehead") +AnnotationAssertion(Annotation( ) "High forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Tall forehead") AnnotationAssertion( "HP:0000348") AnnotationAssertion(rdfs:label "High forehead") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -22457,12 +22450,12 @@ SubClassOf( "PMID:19125436") "Frontal hairline with bilateral arcs to a low point in the midline of the forehead.") AnnotationAssertion( "HP:0004544") AnnotationAssertion( "UMLS:C1853486") -AnnotationAssertion(Annotation( ) Annotation( ) "Hairline peak") -AnnotationAssertion(Annotation( ) Annotation( ) "Hairline point") +AnnotationAssertion(Annotation( ) Annotation( ) "Hairline peak") +AnnotationAssertion(Annotation( ) Annotation( ) "Hairline point") AnnotationAssertion( "Pointed frontal hairline") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed hairline at front of head") -AnnotationAssertion(Annotation( ) Annotation( ) "V-shaped frontal hairline") -AnnotationAssertion(Annotation( ) "Widow's peak") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed hairline at front of head") +AnnotationAssertion(Annotation( ) Annotation( ) "V-shaped frontal hairline") +AnnotationAssertion(Annotation( ) "Widow's peak") AnnotationAssertion( "HP:0000349") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline.") @@ -22475,9 +22468,9 @@ AnnotationAssertion(Annotation( "UMLS:C1845250") AnnotationAssertion( "UMLS:C4280633") AnnotationAssertion( "UMLS:C4280634") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of forehead") AnnotationAssertion(Annotation( ) "Decreased size of frontal region of face") -AnnotationAssertion(Annotation( ) "Small forehead") +AnnotationAssertion(Annotation( ) "Small forehead") AnnotationAssertion(Annotation( ) "Hypoplasia of forehead") AnnotationAssertion(Annotation( ) "Hypotrophic forehead") AnnotationAssertion( "HP:0000350") @@ -22494,12 +22487,12 @@ AnnotationAssertion( "UMLS:C1846460") AnnotationAssertion( "Abnormal pinnae") AnnotationAssertion( "Abnormality of the auricle") -AnnotationAssertion(Annotation( ) "Abnormality of the external ear") -AnnotationAssertion(Annotation( ) "Abnormality of the outer ear") -AnnotationAssertion(Annotation( ) "Ear anomalies") -AnnotationAssertion(Annotation( ) "External ear malformations") +AnnotationAssertion(Annotation( ) "Abnormality of the external ear") +AnnotationAssertion(Annotation( ) "Abnormality of the outer ear") +AnnotationAssertion(Annotation( ) "Ear anomalies") +AnnotationAssertion(Annotation( ) "External ear malformations") AnnotationAssertion( "Malformed pinnae") -AnnotationAssertion(Annotation( ) "Outer ear abnormality") +AnnotationAssertion(Annotation( ) "Outer ear abnormality") AnnotationAssertion( "HP:0000356") AnnotationAssertion(rdfs:label "Abnormality of the outer ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -22509,7 +22502,7 @@ SubClassOf( ) "Abnormal location of the ear.") AnnotationAssertion( "UMLS:C4021810") -AnnotationAssertion(Annotation( ) "Abnormal location of ears") +AnnotationAssertion(Annotation( ) "Abnormal location of ears") AnnotationAssertion( "External ear position defect") AnnotationAssertion( "HP:0000357") AnnotationAssertion(rdfs:label "Abnormal location of ears") @@ -22523,7 +22516,7 @@ AnnotationAssertion( "SNOMEDCT_US:253251006") AnnotationAssertion( "UMLS:C0431478") AnnotationAssertion( "Ear, posterior angulation, increased") -AnnotationAssertion(Annotation( ) Annotation( ) "Ears rotated toward back of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Ears rotated toward back of head") AnnotationAssertion( "Posteriorly angulated ears") AnnotationAssertion( "Posteriorly rotated") AnnotationAssertion( "Posteriorly rotated auricles") @@ -22540,8 +22533,8 @@ SubClassOf( ) "An abnormality of the inner ear.") AnnotationAssertion( "UMLS:C4021809") -AnnotationAssertion(Annotation( ) "Abnormality of the inner ear") -AnnotationAssertion(Annotation( ) "Inner ear abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of the inner ear") +AnnotationAssertion(Annotation( ) "Inner ear abnormality") AnnotationAssertion( "HP:0000359") AnnotationAssertion(rdfs:label "Abnormality of the inner ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -22555,8 +22548,8 @@ AnnotationAssertion( "SNOMEDCT_US:162352007") AnnotationAssertion( "SNOMEDCT_US:60862001") AnnotationAssertion( "UMLS:C0040264") -AnnotationAssertion(Annotation( ) "Ringing in ears") -AnnotationAssertion(Annotation( ) Annotation( ) "Ringing in the ears") +AnnotationAssertion(Annotation( ) "Ringing in ears") +AnnotationAssertion(Annotation( ) Annotation( ) "Ringing in the ears") AnnotationAssertion( "HP:0000360") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Tinnitus") @@ -22586,11 +22579,11 @@ SubClassOf( ) "An abnormality of the lobule of pinna.") AnnotationAssertion( "UMLS:C4021808") -AnnotationAssertion(Annotation( ) "Abnormal earlobe") +AnnotationAssertion(Annotation( ) "Abnormal earlobe") AnnotationAssertion( "Abnormal lobe of ear") AnnotationAssertion( "Abnormality of auricular lobule") -AnnotationAssertion(Annotation( ) "Abnormality of ear lobe") -AnnotationAssertion(Annotation( ) "Abnormality of earlobe") +AnnotationAssertion(Annotation( ) "Abnormality of ear lobe") +AnnotationAssertion(Annotation( ) "Abnormality of earlobe") AnnotationAssertion( "Abnormality of lobulus auriculae") AnnotationAssertion( "HP:0000363") AnnotationAssertion( ) @@ -22602,8 +22595,8 @@ SubClassOf( ) "An abnormality of the sensory perception of sound.") AnnotationAssertion( "UMLS:C4025860") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hearing") -AnnotationAssertion(Annotation( ) "Hearing abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hearing") +AnnotationAssertion(Annotation( ) "Hearing abnormality") AnnotationAssertion( "HP:0000364") AnnotationAssertion(rdfs:comment "According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.") AnnotationAssertion(rdfs:label "Hearing abnormality") @@ -22630,11 +22623,11 @@ AnnotationAssertion( "UMLS:C0018772") AnnotationAssertion( "UMLS:C0339789") AnnotationAssertion( "UMLS:C1384666") -AnnotationAssertion(Annotation( ) "Deafness") -AnnotationAssertion(Annotation( ) "Hearing defect") -AnnotationAssertion(Annotation( ) "Hearing impairment") +AnnotationAssertion(Annotation( ) "Deafness") +AnnotationAssertion(Annotation( ) "Hearing defect") +AnnotationAssertion(Annotation( ) "Hearing impairment") AnnotationAssertion( "Hypacusis") -AnnotationAssertion(Annotation( ) "Hearing loss") +AnnotationAssertion(Annotation( ) "Hearing loss") AnnotationAssertion( "Hypoacusis") AnnotationAssertion( "HP:0000365") AnnotationAssertion(rdfs:comment "Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.") @@ -22650,14 +22643,14 @@ AnnotationAssertion( "UMLS:C0240547") AnnotationAssertion( "UMLS:C0265736") AnnotationAssertion( "UMLS:C2235909") -AnnotationAssertion(Annotation( ) "Abnormality of the nose") +AnnotationAssertion(Annotation( ) "Abnormality of the nose") AnnotationAssertion(Annotation( ) "Anomaly of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal abnormality") AnnotationAssertion(Annotation( ) "Nasal anomaly") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal deformity") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal malformation") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal deformity") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal malformation") AnnotationAssertion( "HP:0000366") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the nose") @@ -22680,10 +22673,10 @@ SubClassOf( ) Annotation( "PMID:19152421") "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.") AnnotationAssertion( "SNOMEDCT_US:95515009") AnnotationAssertion( "UMLS:C0239234") -AnnotationAssertion(Annotation( ) "Low set ears") -AnnotationAssertion(Annotation( ) "Low-set ears") +AnnotationAssertion(Annotation( ) "Low set ears") +AnnotationAssertion(Annotation( ) "Low-set ears") AnnotationAssertion( "Low-set pinnae") -AnnotationAssertion(Annotation( ) "Lowset ears") +AnnotationAssertion(Annotation( ) "Lowset ears") AnnotationAssertion( "Melotia") AnnotationAssertion( "HP:0000369") AnnotationAssertion( ) @@ -22708,7 +22701,7 @@ SubClassOf( ) "Acute otitis media is a short and generally painful infection of the middle ear.") AnnotationAssertion( "SNOMEDCT_US:3110003") AnnotationAssertion( "UMLS:C0271429") -AnnotationAssertion(Annotation( ) Annotation( ) "Acute middle ear infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Acute middle ear infection") AnnotationAssertion( "HP:0000371") AnnotationAssertion(rdfs:label "Acute otitis media") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -22766,14 +22759,14 @@ AnnotationAssertion( "UMLS:C0431483") AnnotationAssertion( "UMLS:C0857379") AnnotationAssertion( "Abnormal form of ears") -AnnotationAssertion(Annotation( ) "Abnormally shaped ears") -AnnotationAssertion(Annotation( ) "Auricular malformation") +AnnotationAssertion(Annotation( ) "Abnormally shaped ears") +AnnotationAssertion(Annotation( ) "Auricular malformation") AnnotationAssertion( "Deformed auricles") -AnnotationAssertion(Annotation( ) "Deformed ears") +AnnotationAssertion(Annotation( ) "Deformed ears") AnnotationAssertion( "Dysplastic ears") AnnotationAssertion( "Malformation of auricle") AnnotationAssertion( "Malformed auricles") -AnnotationAssertion(Annotation( ) "Malformed ears") +AnnotationAssertion(Annotation( ) "Malformed ears") AnnotationAssertion( "Malformed external ears") AnnotationAssertion( "Minor malformation of the auricles") AnnotationAssertion( "Poorly defined conchae") @@ -22790,9 +22783,9 @@ AnnotationAssertion( "HP:0008600") AnnotationAssertion( "UMLS:C1845447") AnnotationAssertion( "UMLS:C4020892") -AnnotationAssertion(Annotation( ) "Cup-shaped ears") -AnnotationAssertion(Annotation( ) "Cupped ear") -AnnotationAssertion(Annotation( ) "Simple, cup-shaped ears") +AnnotationAssertion(Annotation( ) "Cup-shaped ears") +AnnotationAssertion(Annotation( ) "Cupped ear") +AnnotationAssertion(Annotation( ) "Simple, cup-shaped ears") AnnotationAssertion( "Capuchin ears") AnnotationAssertion(Annotation( ) "Cupped ears") AnnotationAssertion( "HP:0000378") @@ -22815,7 +22808,7 @@ SubClassOf( "UMLS:C4025856") AnnotationAssertion( "Abnormality of periauricular region") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the ear") AnnotationAssertion(Annotation( ) "Anomaly of the periauricular region") AnnotationAssertion(Annotation( ) "Deformity of the periauricular region") AnnotationAssertion(Annotation( ) "Malformation of the periauricular region") @@ -22828,8 +22821,8 @@ SubClassOf( ) "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).") AnnotationAssertion( "HP:0008575") AnnotationAssertion( "HP:0100278") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin tag in front of the ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin tag on the posterior cheek") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin tag in front of the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin tag on the posterior cheek") AnnotationAssertion( "UMLS:C1860816") AnnotationAssertion( "UMLS:C4072826") AnnotationAssertion(Annotation( ) "Ear tag") @@ -22851,8 +22844,8 @@ AnnotationAssertion( "UMLS:C1842680") AnnotationAssertion( "Hypoplastic earlobes") AnnotationAssertion( "Hypoplastic lobules") -AnnotationAssertion(Annotation( ) "Small earlobe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small earlobes") +AnnotationAssertion(Annotation( ) "Small earlobe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small earlobes") AnnotationAssertion( "HP:0000385") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable.") @@ -22865,9 +22858,9 @@ SubClassOf( ) Annotation( "PMID:19152421") "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.") AnnotationAssertion( "UMLS:C1849364") AnnotationAssertion( "Absent ear lobes") -AnnotationAssertion(Annotation( ) "Absent earlobe") -AnnotationAssertion(Annotation( ) "Earlobe, absent") -AnnotationAssertion(Annotation( ) "Lobeless ears") +AnnotationAssertion(Annotation( ) "Absent earlobe") +AnnotationAssertion(Annotation( ) "Earlobe, absent") +AnnotationAssertion(Annotation( ) "Lobeless ears") AnnotationAssertion( "Lobule aplasia") AnnotationAssertion( "HP:0000387") AnnotationAssertion( ) @@ -22881,7 +22874,7 @@ AnnotationAssertion(Annotation( "MSH:D010033") AnnotationAssertion( "SNOMEDCT_US:65363002") AnnotationAssertion( "UMLS:C0029882") -AnnotationAssertion(Annotation( ) Annotation( ) "Middle ear infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Middle ear infection") AnnotationAssertion( "HP:0000388") AnnotationAssertion(rdfs:label "Otitis media") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -22895,10 +22888,10 @@ AnnotationAssertion( "SNOMEDCT_US:21186006") AnnotationAssertion( "UMLS:C0271441") AnnotationAssertion( "UMLS:C0743359") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic infections of the middle ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic infections of the middle ear") AnnotationAssertion(Annotation( ) "Otitis media, chronic") AnnotationAssertion( "Chronic ear infection") -AnnotationAssertion(Annotation( ) "Chronic middle ear infection") +AnnotationAssertion(Annotation( ) "Chronic middle ear infection") AnnotationAssertion( "HP:0000389") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Chronic otitis media") @@ -22944,7 +22937,7 @@ AnnotationAssertion( "HP:0008570") AnnotationAssertion( "UMLS:C1837731") AnnotationAssertion( "Over-folded helices") -AnnotationAssertion(Annotation( ) "Overfolded ears") +AnnotationAssertion(Annotation( ) "Overfolded ears") AnnotationAssertion( "Overfolded helices") AnnotationAssertion( "HP:0000396") AnnotationAssertion( ) @@ -22979,7 +22972,7 @@ AnnotationAssertion( "UMLS:C1850189") AnnotationAssertion( "UMLS:C1855062") AnnotationAssertion( "UMLS:C1860838") -AnnotationAssertion(Annotation( ) "Large ears") +AnnotationAssertion(Annotation( ) "Large ears") AnnotationAssertion( "Large pinnae") AnnotationAssertion( "HP:0000400") AnnotationAssertion( ) @@ -22992,7 +22985,7 @@ SubClassOf( ) "An abnormal narrowing of the external auditory canal.") AnnotationAssertion( "HP:0000373") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow ear canal") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow ear canal") AnnotationAssertion( "SNOMEDCT_US:300127002") AnnotationAssertion( "SNOMEDCT_US:301061006") AnnotationAssertion( "UMLS:C0395837") @@ -23001,7 +22994,7 @@ AnnotationAssertion( "Narrow auditory canals") AnnotationAssertion( "Narrow external auditory canals") AnnotationAssertion( "Narrow external auditory meatus") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Narrowing of passageway from outer ear to middle ear") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Narrowing of passageway from outer ear to middle ear") AnnotationAssertion( "Stenotic external auditory canal") AnnotationAssertion( "HP:0000402") AnnotationAssertion( ) @@ -23020,7 +23013,7 @@ AnnotationAssertion( "Multiple episodes of otitis media") AnnotationAssertion(Annotation( ) "Otitis media, recurrent") AnnotationAssertion( "Recurrent episodes of otitis media") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent middle ear infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent middle ear infection") AnnotationAssertion( "Susceptibility to otitis media") AnnotationAssertion( "HP:0000403") AnnotationAssertion(rdfs:label "Recurrent otitis media") @@ -23037,8 +23030,8 @@ AnnotationAssertion( "SNOMEDCT_US:44057004") AnnotationAssertion( "UMLS:C0018777") AnnotationAssertion( "Conduction deafness") -AnnotationAssertion(Annotation( ) "Conductive deafness") -AnnotationAssertion(Annotation( ) "Conductive hearing loss") +AnnotationAssertion(Annotation( ) "Conductive deafness") +AnnotationAssertion(Annotation( ) "Conductive hearing loss") AnnotationAssertion( "Hearing loss, conductive") AnnotationAssertion( "HP:0000405") AnnotationAssertion( ) @@ -23102,9 +23095,9 @@ AnnotationAssertion(Annotation( "MSH:D046089") AnnotationAssertion( "SNOMEDCT_US:77507001") AnnotationAssertion( "UMLS:C0155552") -AnnotationAssertion(Annotation( ) Annotation( ) "Hearing loss, mixed") -AnnotationAssertion(Annotation( ) "Mixed hearing impairment") -AnnotationAssertion(Annotation( ) "Mixed hearing loss") +AnnotationAssertion(Annotation( ) Annotation( ) "Hearing loss, mixed") +AnnotationAssertion(Annotation( ) "Mixed hearing impairment") +AnnotationAssertion(Annotation( ) "Mixed hearing loss") AnnotationAssertion( "HP:0000410") AnnotationAssertion(rdfs:label "Mixed hearing impairment") SubClassOf( ) @@ -23117,9 +23110,9 @@ AnnotationAssertion( "SNOMEDCT_US:275478007") AnnotationAssertion( "UMLS:C1305420") AnnotationAssertion( "UMLS:C1855285") -AnnotationAssertion(Annotation( ) "Prominent ear") -AnnotationAssertion(Annotation( ) "Prominent ears") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding ears") +AnnotationAssertion(Annotation( ) "Prominent ear") +AnnotationAssertion(Annotation( ) "Prominent ears") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding ears") AnnotationAssertion( "HP:0000411") AnnotationAssertion(rdfs:label "Protruding ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -23136,7 +23129,7 @@ AnnotationAssertion( "UMLS:C1857079") AnnotationAssertion( "UMLS:C1866190") AnnotationAssertion( "Absent auditory canals") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent ear canal") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent ear canal") AnnotationAssertion( "Absent external auditory canals") AnnotationAssertion( "Atretic auditory canal") AnnotationAssertion( "Atretic auditory canals") @@ -23162,9 +23155,9 @@ AnnotationAssertion( "UMLS:C0240543") AnnotationAssertion( "UMLS:C1834118") AnnotationAssertion( "UMLS:C1855751") -AnnotationAssertion(Annotation( ) "Bulbous nose") +AnnotationAssertion(Annotation( ) "Bulbous nose") AnnotationAssertion( "Bulbous nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Potato nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Potato nose") AnnotationAssertion( "HP:0000414") AnnotationAssertion(rdfs:comment "This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.") AnnotationAssertion(rdfs:label "Bulbous nose") @@ -23183,7 +23176,7 @@ SubClassOf( (Slender nose) AnnotationAssertion( "UMLS:C1857645") -AnnotationAssertion(Annotation( ) "Slender nose") +AnnotationAssertion(Annotation( ) "Slender nose") AnnotationAssertion( "HP:0000417") AnnotationAssertion(rdfs:label "Slender nose") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -23195,14 +23188,14 @@ AnnotationAssertion(Annotation( "UMLS:C1837761") AnnotationAssertion( "Decreased width of dorsum of nose") AnnotationAssertion( "Decreased width of nasal dorsum") -AnnotationAssertion(Annotation( ) "Decreased width of nasal ridge") +AnnotationAssertion(Annotation( ) "Decreased width of nasal ridge") AnnotationAssertion( "Narrow dorsum of nose") AnnotationAssertion( "Narrow nasal dorsum") -AnnotationAssertion(Annotation( ) "Narrow nasal ridge") -AnnotationAssertion(Annotation( ) "Pinched nose") +AnnotationAssertion(Annotation( ) "Narrow nasal ridge") +AnnotationAssertion(Annotation( ) "Pinched nose") AnnotationAssertion( "Thin dorsum of nose") AnnotationAssertion( "Thin nasal dorsum") -AnnotationAssertion(Annotation( ) "Thin nasal ridge") +AnnotationAssertion(Annotation( ) "Thin nasal ridge") AnnotationAssertion( "HP:0000418") AnnotationAssertion(rdfs:comment "This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately.") AnnotationAssertion(rdfs:label "Narrow nasal ridge") @@ -23213,8 +23206,8 @@ SubClassOf( ) "An abnormality of the nasal septum.") AnnotationAssertion( "SNOMEDCT_US:95433000") AnnotationAssertion( "UMLS:C0151790") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of septum of nose") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of septum of nose") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal septum") AnnotationAssertion(Annotation( ) "Anomaly of nasal septum") AnnotationAssertion(Annotation( ) "Anomaly of septum of nose") AnnotationAssertion( "HP:0000419") @@ -23227,10 +23220,10 @@ SubClassOf( ) "Reduced superior to inferior length of the nasal septum.") AnnotationAssertion( "UMLS:C1844857") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of septum of nose") -AnnotationAssertion(Annotation( ) "Short nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Short septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of septum of nose") +AnnotationAssertion(Annotation( ) "Short nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Short septum of nose") AnnotationAssertion( "HP:0000420") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short nasal septum") @@ -23249,13 +23242,13 @@ AnnotationAssertion( "SNOMEDCT_US:12441001") AnnotationAssertion( "SNOMEDCT_US:249366005") AnnotationAssertion( "UMLS:C0014591") -AnnotationAssertion(Annotation( ) Annotation( ) "Bloody nose") -AnnotationAssertion(Annotation( ) "Frequent nosebleeds") +AnnotationAssertion(Annotation( ) Annotation( ) "Bloody nose") +AnnotationAssertion(Annotation( ) "Frequent nosebleeds") AnnotationAssertion(Annotation( ) "Nasal haemorrhage") AnnotationAssertion(Annotation( "NCIT:C26766") "Nasal hemorrhage") -AnnotationAssertion(Annotation( "NCIT:C26766") Annotation( ) "Nose bleed") -AnnotationAssertion(Annotation( ) "Nose bleeding") -AnnotationAssertion(Annotation( "NCIT:C26766") Annotation( ) "Nosebleed") +AnnotationAssertion(Annotation( "NCIT:C26766") Annotation( ) "Nose bleed") +AnnotationAssertion(Annotation( ) "Nose bleeding") +AnnotationAssertion(Annotation( "NCIT:C26766") Annotation( ) "Nosebleed") AnnotationAssertion( "HP:0000421") AnnotationAssertion(rdfs:label "Epistaxis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -23267,13 +23260,13 @@ SubClassOf( ) Annotation( "PMID:19152422") "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.") AnnotationAssertion( "HP:0000423") AnnotationAssertion( "UMLS:C4021805") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the bridge of the nose") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the bridge of the nose") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal bridge") AnnotationAssertion( "Abnormality of the nasal root") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the bridge of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the bridge of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the bridge of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the bridge of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal bridge") AnnotationAssertion( "HP:0000422") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The nasal root is the most depressed, superior part of the nose along the nasal ridge.") @@ -23290,15 +23283,15 @@ AnnotationAssertion( "HP:0005287") AnnotationAssertion( "UMLS:C1854113") AnnotationAssertion( "UMLS:C4230640") -AnnotationAssertion(Annotation( ) "Elevated nasal bridge") -AnnotationAssertion(Annotation( ) "High nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent bridge of nose") -AnnotationAssertion(Annotation( ) "Prominent nasal bridge") -AnnotationAssertion(Annotation( ) "Prominent nasal root") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Convex bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Convex nasal bridge") +AnnotationAssertion(Annotation( ) "Elevated nasal bridge") +AnnotationAssertion(Annotation( ) "High nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent bridge of nose") +AnnotationAssertion(Annotation( ) "Prominent nasal bridge") +AnnotationAssertion(Annotation( ) "Prominent nasal root") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Convex bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Convex nasal bridge") AnnotationAssertion( "HP:0000426") AnnotationAssertion(rdfs:comment "A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately.") AnnotationAssertion(rdfs:label "Prominent nasal bridge") @@ -23349,7 +23342,7 @@ AnnotationAssertion( "Nasal cartilage hypoplasia") AnnotationAssertion(Annotation( ) "Small nasal alae") AnnotationAssertion( "Thin hypoplastic alae nasi") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped tissue around nostril") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped tissue around nostril") AnnotationAssertion( "HP:0000430") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed.") @@ -23369,19 +23362,19 @@ AnnotationAssertion( "SNOMEDCT_US:249321001") AnnotationAssertion( "UMLS:C1839764") AnnotationAssertion( "UMLS:C1849367") -AnnotationAssertion(Annotation( ) "Broad nasal bridge") -AnnotationAssertion(Annotation( ) "Broad nasal root") -AnnotationAssertion(Annotation( ) "Broadened nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal bridge") -AnnotationAssertion(Annotation( ) "Nasal bridge broad") +AnnotationAssertion(Annotation( ) "Broad nasal bridge") +AnnotationAssertion(Annotation( ) "Broad nasal root") +AnnotationAssertion(Annotation( ) "Broadened nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal bridge") +AnnotationAssertion(Annotation( ) "Nasal bridge broad") AnnotationAssertion( "Nasal bridge, wide") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide bridge of nose") -AnnotationAssertion(Annotation( ) "Wide nasal bridge") -AnnotationAssertion(Annotation( ) "Widened nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad flat nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide bridge of nose") +AnnotationAssertion(Annotation( ) "Wide nasal bridge") +AnnotationAssertion(Annotation( ) "Widened nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad flat nasal bridge") AnnotationAssertion( "HP:0000431") AnnotationAssertion(rdfs:comment "Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately.") AnnotationAssertion(rdfs:label "Wide nasal bridge") @@ -23391,10 +23384,10 @@ SubClassOf( (Abnormal nasal mucosa morphology) AnnotationAssertion( "UMLS:C4025854") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of mucosa of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of mucous membrane of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of nasal mucous membrane") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal mucosa") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of mucosa of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of mucous membrane of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of nasal mucous membrane") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal mucosa") AnnotationAssertion( "HP:0000433") AnnotationAssertion(rdfs:label "Abnormal nasal mucosa morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -23408,9 +23401,9 @@ AnnotationAssertion(Annotation( ) "Angioectasia of mucous membrane of nose") AnnotationAssertion(Annotation( ) "Angioectasia of nasal mucous membrane") AnnotationAssertion(Annotation( ) "Nasal mucous membrane telangiectasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of mucosa of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of mucous membrane of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of nasal mucous membrane") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of mucosa of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of mucous membrane of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of nasal mucous membrane") AnnotationAssertion(Annotation( ) "Telangiectasia of mucosa of nose") AnnotationAssertion(Annotation( ) "Telangiectasia of mucous membrane of nose") AnnotationAssertion(Annotation( ) "Telangiectasia of nasal mucous membrane") @@ -23424,12 +23417,12 @@ SubClassOf( ) Annotation( "PMID:19152422") "An abnormality of the nasal tip.") AnnotationAssertion( "UMLS:C4025852") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of tip of nose") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of tip of nose") AnnotationAssertion( "HP:0000436") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane.") @@ -23442,13 +23435,13 @@ SubClassOf( "PMID:19152422") "Decreased distance from the nasal tip to the nasal base.") AnnotationAssertion( "HP:0005279") AnnotationAssertion( "UMLS:C1859717") -AnnotationAssertion(Annotation( ) Annotation( ) "Caved in nasal tip") -AnnotationAssertion(Annotation( ) "Depressed nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Depressed tip of nose") -AnnotationAssertion(Annotation( ) "Flat nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat tip of nose") -AnnotationAssertion(Annotation( ) "Flattened nasal tip") -AnnotationAssertion(Annotation( ) "Nasal tip, depressed") +AnnotationAssertion(Annotation( ) Annotation( ) "Caved in nasal tip") +AnnotationAssertion(Annotation( ) "Depressed nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Depressed tip of nose") +AnnotationAssertion(Annotation( ) "Flat nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat tip of nose") +AnnotationAssertion(Annotation( ) "Flattened nasal tip") +AnnotationAssertion(Annotation( ) "Nasal tip, depressed") AnnotationAssertion( "Nasal tip, recessed") AnnotationAssertion( "Nasal tip, retruded") AnnotationAssertion(Annotation( ) "Retruded tip of nose") @@ -23464,12 +23457,12 @@ SubClassOf( "PMID:19152422") "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.") AnnotationAssertion( "HP:0003683") AnnotationAssertion( "UMLS:C0240538") -AnnotationAssertion(Annotation( ) "Beaked nose") -AnnotationAssertion(Annotation( ) "Beaklike protrusion") +AnnotationAssertion(Annotation( ) "Beaked nose") +AnnotationAssertion(Annotation( ) "Beaklike protrusion") AnnotationAssertion(Annotation( ) "Convex dorsum of nose") AnnotationAssertion(Annotation( ) "Convex nasal dorsum") -AnnotationAssertion(Annotation( ) "Hooked nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Polly beak nasal deformity") +AnnotationAssertion(Annotation( ) "Hooked nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Polly beak nasal deformity") AnnotationAssertion( "HP:0000444") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Convex nasal ridge") @@ -23481,12 +23474,12 @@ AnnotationAssertion(Annotation( "HP:0000438") AnnotationAssertion( "SNOMEDCT_US:249321001") AnnotationAssertion( "UMLS:C0426421") -AnnotationAssertion(Annotation( ) "Broad nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal breadth") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal width") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nose") -AnnotationAssertion(Annotation( ) "Wide nose") +AnnotationAssertion(Annotation( ) "Broad nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal breadth") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal width") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nose") +AnnotationAssertion(Annotation( ) "Wide nose") AnnotationAssertion( "HP:0000445") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Wide nose") @@ -23498,13 +23491,13 @@ SubClassOf( "PMID:19152422") "Decreased width of the bony bridge of the nose.") AnnotationAssertion( "HP:0100782") AnnotationAssertion( "UMLS:C4551564") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow bridge of nose") -AnnotationAssertion(Annotation( ) "Narrow nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow bridge of nose") +AnnotationAssertion(Annotation( ) "Narrow nasal bridge") AnnotationAssertion( "Narrow nasal root") -AnnotationAssertion(Annotation( ) "Nasal Bridge, Narrow") -AnnotationAssertion(Annotation( ) "Nasal bridge, thin") -AnnotationAssertion(Annotation( ) Annotation( ) "Pinched bridge of nose") -AnnotationAssertion(Annotation( ) "Pinched nasal bridge") +AnnotationAssertion(Annotation( ) "Nasal Bridge, Narrow") +AnnotationAssertion(Annotation( ) "Nasal bridge, thin") +AnnotationAssertion(Annotation( ) Annotation( ) "Pinched bridge of nose") +AnnotationAssertion(Annotation( ) "Pinched nasal bridge") AnnotationAssertion( "HP:0000446") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age.") @@ -23515,7 +23508,7 @@ SubClassOf( (Pear-shaped nose) AnnotationAssertion( "UMLS:C1853482") -AnnotationAssertion(Annotation( ) "Pear-shaped nose") +AnnotationAssertion(Annotation( ) "Pear-shaped nose") AnnotationAssertion( "HP:0000447") AnnotationAssertion(rdfs:label "Pear-shaped nose") SubClassOf( ) @@ -23530,13 +23523,13 @@ AnnotationAssertion( "UMLS:C0426415") AnnotationAssertion( "UMLS:C1400105") AnnotationAssertion( "UMLS:C4280629") -AnnotationAssertion(Annotation( ) Annotation( ) "Big nose") -AnnotationAssertion(Annotation( ) "Disproportionately large nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal size") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of nose") -AnnotationAssertion(Annotation( ) "Large nose") -AnnotationAssertion(Annotation( ) "Prominent nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Big nose") +AnnotationAssertion(Annotation( ) "Disproportionately large nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal size") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of nose") +AnnotationAssertion(Annotation( ) "Large nose") +AnnotationAssertion(Annotation( ) "Prominent nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced nose") AnnotationAssertion(Annotation( ) "Hyperplasia of nose") AnnotationAssertion(Annotation( ) "Hypertrophy of nose") AnnotationAssertion(Annotation( ) "Nasal hyperplasia") @@ -23550,8 +23543,8 @@ SubClassOf( (Triangular nasal tip) AnnotationAssertion( "UMLS:C1839765") -AnnotationAssertion(Annotation( ) "Triangular nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped tip of nose") +AnnotationAssertion(Annotation( ) "Triangular nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped tip of nose") AnnotationAssertion( "HP:0000451") AnnotationAssertion(rdfs:label "Triangular nasal tip") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -23563,7 +23556,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:306963008") AnnotationAssertion( "UMLS:C0584837") AnnotationAssertion( "Coanal stenosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the rear opening of the nasal cavity") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the rear opening of the nasal cavity") AnnotationAssertion( "HP:0000452") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Choanal stenosis") @@ -23580,7 +23573,7 @@ AnnotationAssertion( "MSH:D002754") AnnotationAssertion( "SNOMEDCT_US:204508009") AnnotationAssertion( "UMLS:C0008297") -AnnotationAssertion(Annotation( ) Annotation( ) "Blockage of the rear opening of the nasal cavity") +AnnotationAssertion(Annotation( ) Annotation( ) "Blockage of the rear opening of the nasal cavity") AnnotationAssertion( "HP:0000453") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Choanal atresia") @@ -23593,7 +23586,7 @@ AnnotationAssertion( "SNOMEDCT_US:248568003") AnnotationAssertion( "UMLS:C0277873") AnnotationAssertion( "Flared nasal alae") -AnnotationAssertion(Annotation( ) "Flared nostrils") +AnnotationAssertion(Annotation( ) "Flared nostrils") AnnotationAssertion( "HP:0000454") AnnotationAssertion(rdfs:label "Flared nostrils") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -23606,17 +23599,17 @@ AnnotationAssertion( "HP:0005269") AnnotationAssertion( "SNOMEDCT_US:249327002") AnnotationAssertion( "UMLS:C0426429") -AnnotationAssertion(Annotation( ) "Broad nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad tip of nose") -AnnotationAssertion(Annotation( ) "Broad, upturned nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of tip of nose") -AnnotationAssertion(Annotation( ) "Nasal tip, broad") -AnnotationAssertion(Annotation( ) "Nasal tip, wide") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide tip of nose") -AnnotationAssertion(Annotation( ) "Broad upturned nose") +AnnotationAssertion(Annotation( ) "Broad nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad tip of nose") +AnnotationAssertion(Annotation( ) "Broad, upturned nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased breadth of tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of tip of nose") +AnnotationAssertion(Annotation( ) "Nasal tip, broad") +AnnotationAssertion(Annotation( ) "Nasal tip, wide") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide tip of nose") +AnnotationAssertion(Annotation( ) "Broad upturned nose") AnnotationAssertion( "HP:0000455") AnnotationAssertion(rdfs:comment "Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.") AnnotationAssertion(rdfs:label "Broad nasal tip") @@ -23631,10 +23624,10 @@ AnnotationAssertion( "UMLS:C0426428") AnnotationAssertion( "UMLS:C4020890") AnnotationAssertion(Annotation( ) "Bifid tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft tip of nose") -AnnotationAssertion(Annotation( ) "Notched nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft tip of nose") +AnnotationAssertion(Annotation( ) "Notched nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched tip of nose") AnnotationAssertion( "HP:0000456") AnnotationAssertion(rdfs:comment "This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.") AnnotationAssertion(rdfs:label "Bifid nasal tip") @@ -23649,10 +23642,10 @@ AnnotationAssertion(Annotation( ) "Depressed nasal dorsum") AnnotationAssertion(Annotation( ) "Flat dorsum of nose") AnnotationAssertion(Annotation( ) "Flat nasal dorsum") -AnnotationAssertion(Annotation( ) "Flat nose") +AnnotationAssertion(Annotation( ) "Flat nose") AnnotationAssertion(Annotation( ) "Recessed dorsum of nose") AnnotationAssertion(Annotation( ) "Recessed nasal dorsum") -AnnotationAssertion(Annotation( ) Annotation( ) "Recessed nasal ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Recessed nasal ridge") AnnotationAssertion(Annotation( ) "Retruded dorsum of nose") AnnotationAssertion(Annotation( ) "Retruded nasal dorsum") AnnotationAssertion(Annotation( ) "Retruded nasal ridge") @@ -23670,7 +23663,7 @@ AnnotationAssertion( "SNOMEDCT_US:44169009") AnnotationAssertion( "UMLS:C0003126") AnnotationAssertion( "Loss of smell") -AnnotationAssertion(Annotation( ) "Lost smell") +AnnotationAssertion(Annotation( ) "Lost smell") AnnotationAssertion( "HP:0000458") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Anosmia") @@ -23682,10 +23675,10 @@ SubClassOf( "PMID:19152422") "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.") AnnotationAssertion( "SNOMEDCT_US:249322008") AnnotationAssertion( "UMLS:C0426422") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased nasal breadth") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased nasal width") -AnnotationAssertion(Annotation( ) "Narrow nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased nasal breadth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased nasal width") +AnnotationAssertion(Annotation( ) "Narrow nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin nose") AnnotationAssertion( "HP:0000460") AnnotationAssertion(rdfs:comment "Note: a small nose has both decreased height and a decreased width. These should be coded separately.") AnnotationAssertion(rdfs:label "Narrow nose") @@ -23703,12 +23696,12 @@ AnnotationAssertion( "UMLS:C1840077") AnnotationAssertion( "Anteverted nose") AnnotationAssertion( "Anteverted nostrils") -AnnotationAssertion(Annotation( ) "Nasal tip, upturned") +AnnotationAssertion(Annotation( ) "Nasal tip, upturned") AnnotationAssertion( "Nostrils anteverted") AnnotationAssertion(Annotation( ) "Upturned nares") -AnnotationAssertion(Annotation( ) "Upturned nasal tip") -AnnotationAssertion(Annotation( ) "Upturned nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Upturned nostrils") +AnnotationAssertion(Annotation( ) "Upturned nasal tip") +AnnotationAssertion(Annotation( ) "Upturned nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Upturned nostrils") AnnotationAssertion(Annotation( ) "Upturned nasal tips") AnnotationAssertion( "HP:0000463") AnnotationAssertion(rdfs:comment "The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.") @@ -23725,10 +23718,10 @@ AnnotationAssertion( "UMLS:C0266623") AnnotationAssertion( "UMLS:C0575167") AnnotationAssertion( "UMLS:C4280628") -AnnotationAssertion(Annotation( ) "Abnormality of the neck") +AnnotationAssertion(Annotation( ) "Abnormality of the neck") AnnotationAssertion(Annotation( ) "Anomaly of the neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the neck") AnnotationAssertion( "HP:0000464") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the neck") @@ -23740,9 +23733,9 @@ SubClassOf( ) Annotation( "PMID:24523736") "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.") AnnotationAssertion( "SNOMEDCT_US:11731003") AnnotationAssertion( "UMLS:C0221217") -AnnotationAssertion(Annotation( ) "Neck webbing") +AnnotationAssertion(Annotation( ) "Neck webbing") AnnotationAssertion( "Pterygium colli") -AnnotationAssertion(Annotation( ) "Webbed neck") +AnnotationAssertion(Annotation( ) "Webbed neck") AnnotationAssertion( "HP:0000465") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Webbed neck") @@ -23752,7 +23745,7 @@ SubClassOf( "UMLS:C1859212") AnnotationAssertion(Annotation( ) "Limited cervical range of motion") -AnnotationAssertion(Annotation( ) "Limited neck range of motion") +AnnotationAssertion(Annotation( ) "Limited neck range of motion") AnnotationAssertion( "HP:0000466") AnnotationAssertion(rdfs:label "Limited neck range of motion") SubClassOf( ) @@ -23761,9 +23754,9 @@ SubClassOf( ) "Decreased strength of the neck musculature.") AnnotationAssertion( "UMLS:C0240479") -AnnotationAssertion(Annotation( ) Annotation( ) "Floppy neck") -AnnotationAssertion(Annotation( ) "Neck muscle weakness") -AnnotationAssertion(Annotation( ) Annotation( ) "Flaccid neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Floppy neck") +AnnotationAssertion(Annotation( ) "Neck muscle weakness") +AnnotationAssertion(Annotation( ) Annotation( ) "Flaccid neck") AnnotationAssertion( "HP:0000467") AnnotationAssertion(rdfs:label "Neck muscle weakness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -23773,7 +23766,7 @@ SubClassOf( ) "An increased amount of subcutaneous fat tissue around the neck.") AnnotationAssertion( "UMLS:C4025850") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased fat around the neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased fat around the neck") AnnotationAssertion( "HP:0000468") AnnotationAssertion(rdfs:label "Increased adipose tissue around the neck") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -23790,8 +23783,8 @@ AnnotationAssertion( ) "Cervical shortening") AnnotationAssertion(Annotation( ) "Decreased cervical height") AnnotationAssertion(Annotation( ) "Decreased cervical length") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of neck") -AnnotationAssertion(Annotation( ) "Short neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of neck") +AnnotationAssertion(Annotation( ) "Short neck") AnnotationAssertion( "HP:0000470") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short neck") @@ -23814,10 +23807,10 @@ SubClassOf( ) "Increased inferior-superior length of the neck.") AnnotationAssertion( "UMLS:C1839816") AnnotationAssertion(Annotation( ) "Cervical elongation") -AnnotationAssertion(Annotation( ) Annotation( ) "Elongated neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Elongated neck") AnnotationAssertion(Annotation( ) "Increased cervical length") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of neck") -AnnotationAssertion(Annotation( ) "Long neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of neck") +AnnotationAssertion(Annotation( ) "Long neck") AnnotationAssertion( "HP:0000472") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Long neck") @@ -23837,7 +23830,7 @@ AnnotationAssertion( "Cervical dystonia") AnnotationAssertion(Annotation( ) "Loxia") AnnotationAssertion( "Spasmodic torticollis") -AnnotationAssertion(Annotation( ) Annotation( ) "Wry neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Wry neck") AnnotationAssertion( "HP:0000473") AnnotationAssertion(rdfs:comment "The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia.") AnnotationAssertion(rdfs:label "Torticollis") @@ -23855,8 +23848,8 @@ AnnotationAssertion( "Increased nuchal fold thickness") AnnotationAssertion( "Thick nuchal fold") AnnotationAssertion(Annotation( ) "Thickened nuchal skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickened skin folds of neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickened skin over the neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickened skin folds of neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickened skin over the neck") AnnotationAssertion( "HP:0000474") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org).") @@ -23868,10 +23861,10 @@ SubClassOf( ) "Increased side-to-side width of the neck.") AnnotationAssertion( "UMLS:C1853638") -AnnotationAssertion(Annotation( ) "Broad neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick neck") +AnnotationAssertion(Annotation( ) "Broad neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick neck") AnnotationAssertion( "HP:0000475") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Broad neck") @@ -23903,9 +23896,9 @@ AnnotationAssertion( "SNOMEDCT_US:371409005") AnnotationAssertion( "UMLS:C0015393") AnnotationAssertion( "UMLS:C0015397") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal eye") -AnnotationAssertion(Annotation( ) "Abnormality of the eye") -AnnotationAssertion(Annotation( ) "Eye disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal eye") +AnnotationAssertion(Annotation( ) "Abnormality of the eye") +AnnotationAssertion(Annotation( ) "Eye disease") AnnotationAssertion( "HP:0000478") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the eye") @@ -23923,7 +23916,7 @@ AnnotationAssertion( ) "Abnormal retina") AnnotationAssertion( "Abnormality of the retina") AnnotationAssertion( "Anomaly of the retina") -AnnotationAssertion(Annotation( ) "Retina issue") +AnnotationAssertion(Annotation( ) "Retina issue") AnnotationAssertion( "Retinal disease") AnnotationAssertion( "HP:0000479") AnnotationAssertion( ) @@ -23936,7 +23929,7 @@ SubClassOf( ) "A notch or cleft of the retina.") AnnotationAssertion( "HP:0007808") AnnotationAssertion( "UMLS:C3540764") -AnnotationAssertion(Annotation( ) Annotation( ) "Hole in the back of the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Hole in the back of the eye") AnnotationAssertion( "HP:0000480") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Retinal coloboma") @@ -23968,7 +23961,7 @@ AnnotationAssertion( "SNOMEDCT_US:26098002") AnnotationAssertion( "UMLS:C0266544") AnnotationAssertion( "UMLS:C1167713") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cornea of eye less than 10mm in diameter") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cornea of eye less than 10mm in diameter") AnnotationAssertion( "Decreased corneal diameter") AnnotationAssertion( "HP:0000482") AnnotationAssertion( ) @@ -23983,8 +23976,8 @@ AnnotationAssertion(Annotation( "MSH:D001251") AnnotationAssertion( "SNOMEDCT_US:82649003") AnnotationAssertion( "UMLS:C0004106") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curving of the cornea or lens of the eye") -AnnotationAssertion(Annotation( ) "Astigmatism") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curving of the cornea or lens of the eye") +AnnotationAssertion(Annotation( ) "Astigmatism") AnnotationAssertion( "HP:0000483") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision.") @@ -24012,7 +24005,7 @@ AnnotationAssertion( "UMLS:C0344530") AnnotationAssertion( "UMLS:C1167712") AnnotationAssertion( "Anterior megalophthalmos") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged cornea") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged cornea") AnnotationAssertion( "Increased corneal diameter") AnnotationAssertion( "Macrocornea") AnnotationAssertion( "HP:0000485") @@ -24029,9 +24022,9 @@ AnnotationAssertion( "SNOMEDCT_US:128602000") AnnotationAssertion( "SNOMEDCT_US:22066006") AnnotationAssertion( "UMLS:C0038379") -AnnotationAssertion(Annotation( ) "Cross-eyed") -AnnotationAssertion(Annotation( ) "Squint") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Squint eyes") +AnnotationAssertion(Annotation( ) "Cross-eyed") +AnnotationAssertion(Annotation( ) "Squint") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Squint eyes") AnnotationAssertion( "HP:0000486") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Strabismus") @@ -24051,7 +24044,7 @@ AnnotationAssertion(Annotation( "MSH:D012164") AnnotationAssertion( "SNOMEDCT_US:29555009") AnnotationAssertion( "UMLS:C0035309") -AnnotationAssertion(Annotation( ) Annotation( ) "Noninflammatory retina disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Noninflammatory retina disease") AnnotationAssertion( "HP:0000488") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Retinopathy") @@ -24075,12 +24068,12 @@ AnnotationAssertion( "SNOMEDCT_US:80093006") AnnotationAssertion( "UMLS:C0014306") AnnotationAssertion( "UMLS:C0423224") -AnnotationAssertion(Annotation( ) "Deep set eye") -AnnotationAssertion(Annotation( ) "Deep-set eyes") -AnnotationAssertion(Annotation( ) "Deeply set eye") +AnnotationAssertion(Annotation( ) "Deep set eye") +AnnotationAssertion(Annotation( ) "Deep-set eyes") +AnnotationAssertion(Annotation( ) "Deeply set eye") AnnotationAssertion( "Enophthalmos") AnnotationAssertion( "Ocular depression") -AnnotationAssertion(Annotation( ) "Sunken eye") +AnnotationAssertion(Annotation( ) "Sunken eye") AnnotationAssertion( "Sunken eyes") AnnotationAssertion( "HP:0000490") AnnotationAssertion( ) @@ -24095,7 +24088,7 @@ AnnotationAssertion(Annotation( "MSH:D007634") AnnotationAssertion( "SNOMEDCT_US:5888003") AnnotationAssertion( "UMLS:C0022568") -AnnotationAssertion(Annotation( ) Annotation( ) "Corneal inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Corneal inflammation") AnnotationAssertion( "HP:0000491") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Keratitis") @@ -24107,8 +24100,8 @@ SubClassOf( ) "An abnormality of the eyelids.") AnnotationAssertion( "HP:0000285") AnnotationAssertion( "UMLS:C4021803") -AnnotationAssertion(Annotation( ) "Abnormality of the eyelid") -AnnotationAssertion(Annotation( ) "Abnormality of the eyelids") +AnnotationAssertion(Annotation( ) "Abnormality of the eyelid") +AnnotationAssertion(Annotation( ) "Abnormality of the eyelids") AnnotationAssertion( "HP:0000492") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal eyelid morphology") @@ -24144,7 +24137,7 @@ AnnotationAssertion( "Downslanting palpebral fissure") AnnotationAssertion(Annotation( ) "Downslanting palpebral fissures") AnnotationAssertion( "Downward slanted palpebral fissures") -AnnotationAssertion(Annotation( ) Annotation( ) "Downward slanting of the opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Downward slanting of the opening between the eyelids") AnnotationAssertion(Annotation( ) "Downward slanting palpebral fissures") AnnotationAssertion( "Downward-slanting palpebral fissures") AnnotationAssertion( "Palpebral fissures down-slanted") @@ -24166,7 +24159,7 @@ AnnotationAssertion( "UMLS:C0155119") AnnotationAssertion( "UMLS:C4020888") AnnotationAssertion( "Corneal erosions, recurrent") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent breakdown of clear protective layer of eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent breakdown of clear protective layer of eye") AnnotationAssertion( "Recurrent corneal ulceration") AnnotationAssertion( "Epithelial corneal erosions") AnnotationAssertion(Annotation( ) "Recurrent corneal ulcerations") @@ -24183,14 +24176,14 @@ AnnotationAssertion( "Abnormal extraocular movement") AnnotationAssertion( "Abnormal extraocular movements") AnnotationAssertion( "Abnormal eye motility") -AnnotationAssertion(Annotation( ) "Abnormal eye movement") -AnnotationAssertion(Annotation( ) "Abnormal eye movements") +AnnotationAssertion(Annotation( ) "Abnormal eye movement") +AnnotationAssertion(Annotation( ) "Abnormal eye movements") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal motility of the globe of the eye") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal movement of the globe of the eye") AnnotationAssertion( "Abnormal ocular movements") -AnnotationAssertion(Annotation( ) "Abnormality of eye movement") -AnnotationAssertion(Annotation( ) "Eye movement abnormalities") -AnnotationAssertion(Annotation( ) "Eye movement issue") +AnnotationAssertion(Annotation( ) "Abnormality of eye movement") +AnnotationAssertion(Annotation( ) "Eye movement abnormalities") +AnnotationAssertion(Annotation( ) "Eye movement issue") AnnotationAssertion( "Ocular movement abnormalities") AnnotationAssertion( "Oculomotor abnormalities") AnnotationAssertion( "HP:0000496") @@ -24215,7 +24208,7 @@ AnnotationAssertion( "UMLS:C0005741") AnnotationAssertion( "UMLS:C0339063") AnnotationAssertion(Annotation( ) "Cellulitis of eyelids") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of eyelids") AnnotationAssertion( "HP:0000498") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Blepharitis") @@ -24228,9 +24221,9 @@ SubClassOf( ) "An abnormality of the eyelashes.") AnnotationAssertion( "HP:0004530") AnnotationAssertion( "UMLS:C2675111") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal eyelashes") -AnnotationAssertion(Annotation( ) "Abnormality of the eyelashes") -AnnotationAssertion(Annotation( ) "Eyelash abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal eyelashes") +AnnotationAssertion(Annotation( ) "Abnormality of the eyelashes") +AnnotationAssertion(Annotation( ) "Eyelash abnormality") AnnotationAssertion( "HP:0000499") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal eyelash morphology") @@ -24273,9 +24266,9 @@ SubClassOf( ) "Abnormality of eyesight (visual perception).") AnnotationAssertion( "UMLS:C4025846") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormality of sight") -AnnotationAssertion(Annotation( ) "Abnormality of vision") -AnnotationAssertion(Annotation( ) "Vision issue") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormality of sight") +AnnotationAssertion(Annotation( ) "Abnormality of vision") +AnnotationAssertion(Annotation( ) "Vision issue") AnnotationAssertion( "HP:0000504") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of vision") @@ -24297,10 +24290,10 @@ AnnotationAssertion( "SNOMEDCT_US:7973008") AnnotationAssertion( "UMLS:C0042798") AnnotationAssertion( "UMLS:C3665347") -AnnotationAssertion(Annotation( ) "Impaired vision") -AnnotationAssertion(Annotation( ) "Loss of eyesight") -AnnotationAssertion(Annotation( ) "Poor vision") -AnnotationAssertion(Annotation( ) "Visual impairment") +AnnotationAssertion(Annotation( ) "Impaired vision") +AnnotationAssertion(Annotation( ) "Loss of eyesight") +AnnotationAssertion(Annotation( ) "Poor vision") +AnnotationAssertion(Annotation( ) "Visual impairment") AnnotationAssertion( "HP:0000505") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Visual impairment") @@ -24313,7 +24306,7 @@ AnnotationAssertion(Annotation( "MSH:C562941") AnnotationAssertion( "SNOMEDCT_US:246803005") AnnotationAssertion( "UMLS:C0423113") -AnnotationAssertion(Annotation( ) Annotation( ) "Corners of eye widely separated") +AnnotationAssertion(Annotation( ) Annotation( ) "Corners of eye widely separated") AnnotationAssertion( "Dystopia canthorum") AnnotationAssertion(Annotation( ) "Increased distance between medial canthi") AnnotationAssertion(Annotation( ) "Increased intercanthal distance") @@ -24331,9 +24324,9 @@ AnnotationAssertion( "SNOMEDCT_US:11934000") AnnotationAssertion( "UMLS:C0005745") AnnotationAssertion( "Blepharoptosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Drooping upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Drooping upper eyelid") AnnotationAssertion(Annotation( ) "Eyelid ptosis") -AnnotationAssertion(Annotation( ) "Eye drop") +AnnotationAssertion(Annotation( ) "Eye drop") AnnotationAssertion( "HP:0000508") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Ptosis") @@ -24347,7 +24340,7 @@ AnnotationAssertion( "SNOMEDCT_US:9826008") AnnotationAssertion( "UMLS:C0009763") AnnotationAssertion( "UMLS:C1864156") -AnnotationAssertion(Annotation( ) Annotation( ) "Pink eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Pink eye") AnnotationAssertion(Annotation( ) "Conjunctivitis, recurrent") AnnotationAssertion( "HP:0000509") AnnotationAssertion( ) @@ -24413,7 +24406,7 @@ SubClassOf( ) "An abnormally slow velocity of the saccadic eye movements.") AnnotationAssertion( "SNOMEDCT_US:404686001") AnnotationAssertion( "UMLS:C1321329") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Slow eye movements") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Slow eye movements") AnnotationAssertion( "Slow saccades") AnnotationAssertion(Annotation( ) Annotation( ) "Slow visual tracking") AnnotationAssertion( "HP:0000514") @@ -24429,9 +24422,9 @@ AnnotationAssertion( "SNOMEDCT_US:10810001") AnnotationAssertion( "UMLS:C0023308") AnnotationAssertion( "UMLS:C0549651") -AnnotationAssertion(Annotation( ) "Abnormality of the lens") -AnnotationAssertion(Annotation( ) "Lens issue") -AnnotationAssertion(Annotation( ) "Lens disease") +AnnotationAssertion(Annotation( ) "Abnormality of the lens") +AnnotationAssertion(Annotation( ) "Lens issue") +AnnotationAssertion(Annotation( ) "Lens disease") AnnotationAssertion( "HP:0000517") AnnotationAssertion(rdfs:label "Abnormal lens morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -24451,8 +24444,8 @@ AnnotationAssertion( "UMLS:C0086543") AnnotationAssertion( "UMLS:C1510497") AnnotationAssertion( "Cataracts") -AnnotationAssertion(Annotation( ) Annotation( ) "Clouding of the lens of the eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Cloudy lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Clouding of the lens of the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Cloudy lens") AnnotationAssertion( "Lens opacities") AnnotationAssertion( "Lens opacity") AnnotationAssertion( "HP:0000518") @@ -24476,7 +24469,7 @@ AnnotationAssertion( "UMLS:C3277059") AnnotationAssertion( "Bilateral congenital cataracts") AnnotationAssertion( "Cataract, congenital") -AnnotationAssertion(Annotation( ) Annotation( ) "Clouding of the lens of the eye at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Clouding of the lens of the eye at birth") AnnotationAssertion( "Congenital cataract") AnnotationAssertion( "Congenital cataracts") AnnotationAssertion( "Congenital cataracts, bilateral") @@ -24503,13 +24496,13 @@ AnnotationAssertion( "UMLS:C1862425") AnnotationAssertion( "Anterior bulging of the globe") AnnotationAssertion( "Anterior bulging of the globe of eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulging eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulging eye") AnnotationAssertion( "Exophthalmos") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyeballs bulging out") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyeballs bulging out") AnnotationAssertion( "Ocular proptosis") -AnnotationAssertion(Annotation( ) "Prominent eyes") -AnnotationAssertion(Annotation( ) "Prominent globes") -AnnotationAssertion(Annotation( ) "Protruding eyes") +AnnotationAssertion(Annotation( ) "Prominent eyes") +AnnotationAssertion(Annotation( ) "Prominent globes") +AnnotationAssertion(Annotation( ) "Protruding eyes") AnnotationAssertion( "Protrusio bulbi") AnnotationAssertion( "HP:0000520") AnnotationAssertion( ) @@ -24524,9 +24517,9 @@ AnnotationAssertion(Annotation( "MSH:C562827") AnnotationAssertion( "SNOMEDCT_US:253215004") AnnotationAssertion( "UMLS:C0344505") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Absence of tears in the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Absence of tears in the eyes") AnnotationAssertion(Annotation( ) Annotation( ) "Absent lacrimal fluids") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent tear secretion") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent tear secretion") AnnotationAssertion( "HP:0000522") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Alacrima is generally a congenital deficiency.") @@ -24553,7 +24546,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:231870008") AnnotationAssertion( "UMLS:C0239105") AnnotationAssertion( "Conjunctival telangiectases") -AnnotationAssertion(Annotation( ) Annotation( ) "Small dilated blood vessels near membrane covering front of eye and eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Small dilated blood vessels near membrane covering front of eye and eyelids") AnnotationAssertion( "Telangiectasia, conjunctival") AnnotationAssertion( "HP:0000524") AnnotationAssertion( ) @@ -24566,7 +24559,7 @@ SubClassOf( ) "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.") AnnotationAssertion( "UMLS:C4025845") -AnnotationAssertion(Annotation( ) "Abnormality of the iris") +AnnotationAssertion(Annotation( ) "Abnormality of the iris") AnnotationAssertion( "HP:0000525") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality iris morphology") @@ -24581,7 +24574,7 @@ AnnotationAssertion( "MSH:D015783") AnnotationAssertion( "SNOMEDCT_US:69278003") AnnotationAssertion( "UMLS:C0003076") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent iris") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent iris") AnnotationAssertion( "HP:0000526") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Aniridia") @@ -24595,9 +24588,9 @@ AnnotationAssertion( "UMLS:C1853738") AnnotationAssertion( "Ciliary trichomegaly") AnnotationAssertion( "Eyelash trichomegaly") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of eyelashes") -AnnotationAssertion(Annotation( ) "Long eyelashes") -AnnotationAssertion(Annotation( ) "Unusually long eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of eyelashes") +AnnotationAssertion(Annotation( ) "Long eyelashes") +AnnotationAssertion(Annotation( ) "Unusually long eyelashes") AnnotationAssertion( "HP:0000527") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes.") @@ -24615,14 +24608,14 @@ AnnotationAssertion( "SNOMEDCT_US:204099004") AnnotationAssertion( "SNOMEDCT_US:7183006") AnnotationAssertion( "UMLS:C0003119") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of eyeballs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of eyeballs") AnnotationAssertion(Annotation( ) "Absence of globes of eyes") AnnotationAssertion( "Anophthalmia, clinical") AnnotationAssertion( "Clinical anophthalmia, unilateral/bilateral") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyeball") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Missing eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Missing eyeball") AnnotationAssertion(Annotation( ) Annotation( ) "Missing globe of eye") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "No eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "No eyeball") AnnotationAssertion(Annotation( ) Annotation( ) "No globe of eye") AnnotationAssertion(Annotation( ) Annotation( ) "Ocular absence") AnnotationAssertion( "HP:0000528") @@ -24642,13 +24635,13 @@ AnnotationAssertion( "UMLS:C1839364") AnnotationAssertion( "UMLS:C3277697") AnnotationAssertion( "Loss of visual acuity") -AnnotationAssertion(Annotation( ) "Progressive loss of vision") -AnnotationAssertion(Annotation( ) "Progressive vision loss") +AnnotationAssertion(Annotation( ) "Progressive loss of vision") +AnnotationAssertion(Annotation( ) "Progressive vision loss") AnnotationAssertion( "Progressive visual acuity loss") -AnnotationAssertion(Annotation( ) "Progressive visual impairment") -AnnotationAssertion(Annotation( ) "Slowly progressive visual loss") -AnnotationAssertion(Annotation( ) Annotation( ) "Vision loss, progressive") -AnnotationAssertion(Annotation( ) "Visual loss, progressive") +AnnotationAssertion(Annotation( ) "Progressive visual impairment") +AnnotationAssertion(Annotation( ) "Slowly progressive visual loss") +AnnotationAssertion(Annotation( ) Annotation( ) "Vision loss, progressive") +AnnotationAssertion(Annotation( ) "Visual loss, progressive") AnnotationAssertion(Annotation( ) "Decreased visual acuity, progressive") AnnotationAssertion( "HP:0000529") AnnotationAssertion( ) @@ -24697,7 +24690,7 @@ SubClassOf( ) "An abnormality of the eyebrow.") AnnotationAssertion( "UMLS:C4011556") -AnnotationAssertion(Annotation( ) "Abnormality of the eyebrow") +AnnotationAssertion(Annotation( ) "Abnormality of the eyebrow") AnnotationAssertion( "HP:0000534") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal eyebrow morphology") @@ -24749,9 +24742,9 @@ AnnotationAssertion(Annotation( "MSH:D006956") AnnotationAssertion( "SNOMEDCT_US:38101003") AnnotationAssertion( "UMLS:C0020490") -AnnotationAssertion(Annotation( ) "Farsightedness") +AnnotationAssertion(Annotation( ) "Farsightedness") AnnotationAssertion( "Hyperopia") -AnnotationAssertion(Annotation( ) "Long-sightedness") +AnnotationAssertion(Annotation( ) "Long-sightedness") AnnotationAssertion( "HP:0000540") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D).") @@ -24766,8 +24759,8 @@ AnnotationAssertion( "MSH:D012163") AnnotationAssertion( "SNOMEDCT_US:42059000") AnnotationAssertion( "UMLS:C0035305") -AnnotationAssertion(Annotation( ) "Detached retina") -AnnotationAssertion(Annotation( ) "Retinal detachment") +AnnotationAssertion(Annotation( ) "Detached retina") +AnnotationAssertion(Annotation( ) "Retinal detachment") AnnotationAssertion( "HP:0000541") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Retinal detachment") @@ -24813,7 +24806,7 @@ AnnotationAssertion( ) Annotation( ) Annotation( ) Annotation( ) "CPEO") AnnotationAssertion(Annotation( ) Annotation( ) "Chronic progressive external ophthalmoplegia") AnnotationAssertion( "Ophthalmoplegia externa") -AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis or weakness of muscles within or surrounding outer part of eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis or weakness of muscles within or surrounding outer part of eye") AnnotationAssertion(Annotation( ) Annotation( ) "Progressive paralysis or weakness of muscles of eye motility") AnnotationAssertion(Annotation( ) Annotation( ) "Progressive paralysis or weakness of muscles of eye movement") AnnotationAssertion( "HP:0000544") @@ -24829,10 +24822,10 @@ AnnotationAssertion( "MSH:D009216") AnnotationAssertion( "SNOMEDCT_US:57190000") AnnotationAssertion( "UMLS:C0027092") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Close sighted") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Near sighted") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Near sightedness") -AnnotationAssertion(Annotation( ) "Nearsightedness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Close sighted") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Near sighted") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Near sightedness") +AnnotationAssertion(Annotation( ) "Nearsightedness") AnnotationAssertion( "HP:0000545") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Myopia") @@ -24848,7 +24841,7 @@ AnnotationAssertion( "MSH:D012162") AnnotationAssertion( "SNOMEDCT_US:95695004") AnnotationAssertion( "UMLS:C0035304") -AnnotationAssertion(Annotation( ) Annotation( ) "Retina degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Retina degeneration") AnnotationAssertion( "HP:0000546") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Retinal degeneration") @@ -24906,15 +24899,15 @@ AnnotationAssertion( "UMLS:C0009398") AnnotationAssertion( "UMLS:C0234629") AnnotationAssertion( "UMLS:C3552853") -AnnotationAssertion(Annotation( ) "Abnormal color vision") +AnnotationAssertion(Annotation( ) "Abnormal color vision") AnnotationAssertion(Annotation( ) "Abnormal colour vision") -AnnotationAssertion(Annotation( ) "Abnormality of color vision") +AnnotationAssertion(Annotation( ) "Abnormality of color vision") AnnotationAssertion( "Abnormality of colour vision") AnnotationAssertion(Annotation( ) "Colour vision defect") AnnotationAssertion( "Disturbed color vision") AnnotationAssertion(Annotation( ) "Disturbed colour vision") -AnnotationAssertion(Annotation( ) Annotation( ) "Color vision defect, severe") -AnnotationAssertion(Annotation( ) Annotation( ) "Color vision defects") +AnnotationAssertion(Annotation( ) Annotation( ) "Color vision defect, severe") +AnnotationAssertion(Annotation( ) Annotation( ) "Color vision defects") AnnotationAssertion(Annotation( ) "Colour vision defect, severe") AnnotationAssertion(Annotation( ) "Colour vision defects") AnnotationAssertion( "Loss in color vision") @@ -24931,7 +24924,7 @@ AnnotationAssertion( "SNOMEDCT_US:85049009") AnnotationAssertion( "UMLS:C0155017") AnnotationAssertion( "UMLS:C1970167") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Blue yellow color blindness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Blue yellow color blindness") AnnotationAssertion(Annotation( ) "Blue yellow colour blindness") AnnotationAssertion( "Blue-yellow dyschromatopsia") AnnotationAssertion( "Dyschromatopsia, blue-yellow") @@ -24987,7 +24980,7 @@ AnnotationAssertion( "MSH:D058499") AnnotationAssertion( "SNOMEDCT_US:314407005") AnnotationAssertion( "UMLS:C0854723") -AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of light-sensitive cells in back of eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of light-sensitive cells in back of eye") AnnotationAssertion( "HP:0000556") AnnotationAssertion(rdfs:label "Retinal dystrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -24998,7 +24991,7 @@ SubClassOf( "Diffusely large eye (with megalocornea) associated with glaucoma.") AnnotationAssertion( "MSH:D006871") AnnotationAssertion( "UMLS:C4551507") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/buphthalmos") Annotation( ) "Enlarged eyeball") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/buphthalmos") Annotation( ) "Enlarged eyeball") AnnotationAssertion( "HP:0000557") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.") @@ -25038,9 +25031,9 @@ AnnotationAssertion( "UMLS:C1843005") AnnotationAssertion( "UMLS:C4280626") AnnotationAssertion( "UMLS:C4280627") -AnnotationAssertion(Annotation( ) "Absent eyelashes") +AnnotationAssertion(Annotation( ) "Absent eyelashes") AnnotationAssertion( "Atrichia of eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyelashes") AnnotationAssertion(Annotation( ) "Agenesis of eyelashes") AnnotationAssertion(Annotation( ) "Aplasia of eyelashes") AnnotationAssertion( "HP:0000561") @@ -25057,7 +25050,7 @@ AnnotationAssertion(Annotation( "MSH:D007640") AnnotationAssertion( "SNOMEDCT_US:65636009") AnnotationAssertion( "UMLS:C0022578") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulging cornea") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulging cornea") AnnotationAssertion(Annotation( ) "Conical cornea") AnnotationAssertion( "HP:0000563") AnnotationAssertion( ) @@ -25074,7 +25067,7 @@ AnnotationAssertion( "UMLS:C0344511") AnnotationAssertion( "Imperforate nasolacrimal ducts") AnnotationAssertion( "Nasolacrimal duct atresia") -AnnotationAssertion(Annotation( ) Annotation( ) "Unopened tear duct") +AnnotationAssertion(Annotation( ) Annotation( ) "Unopened tear duct") AnnotationAssertion( "HP:0000564") AnnotationAssertion(rdfs:label "Lacrimal duct atresia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -25086,7 +25079,7 @@ AnnotationAssertion(Annotation( "MSH:D004948") AnnotationAssertion( "SNOMEDCT_US:16596007") AnnotationAssertion( "UMLS:C0014877") -AnnotationAssertion(Annotation( ) Annotation( ) "Inward turning cross eyed") +AnnotationAssertion(Annotation( ) Annotation( ) "Inward turning cross eyed") AnnotationAssertion( "HP:0000565") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria.") @@ -25103,7 +25096,7 @@ AnnotationAssertion( "HP:0007956") AnnotationAssertion( "SNOMEDCT_US:39302008") AnnotationAssertion( "UMLS:C0240896") -AnnotationAssertion(Annotation( ) Annotation( ) "Birth defect that causes a hole in the innermost layer at the back of the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Birth defect that causes a hole in the innermost layer at the back of the eye") AnnotationAssertion( "Choroidoretinal coloboma") AnnotationAssertion( "Choroid coloboma") AnnotationAssertion( "Choroidal coloboma") @@ -25118,7 +25111,7 @@ SubClassOf( ) "A developmental anomaly characterized by abnormal smallness of one or both eyes.") AnnotationAssertion( "HP:0007996") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of eyeball") AnnotationAssertion(Annotation( ) "Decreased size of globe of eye") AnnotationAssertion( "Fyler:4877") AnnotationAssertion( "MSH:D008850") @@ -25127,7 +25120,7 @@ AnnotationAssertion( "UMLS:C0026010") AnnotationAssertion( "UMLS:C4280625") AnnotationAssertion( "UMLS:C4280808") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyeball") AnnotationAssertion(Annotation( ) "Abnormally small globe of eye") AnnotationAssertion( "Microphthalmos") AnnotationAssertion( "Nanophthalmos") @@ -25165,9 +25158,9 @@ SubClassOf( ) "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).") AnnotationAssertion( "SNOMEDCT_US:7973008") AnnotationAssertion( "UMLS:C3665386") -AnnotationAssertion(Annotation( ) "Loss of vision") -AnnotationAssertion(Annotation( ) Annotation( ) "Vision loss") -AnnotationAssertion(Annotation( ) "Visual loss") +AnnotationAssertion(Annotation( ) "Loss of vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Vision loss") +AnnotationAssertion(Annotation( ) "Visual loss") AnnotationAssertion( "HP:0000572") AnnotationAssertion(rdfs:label "Visual loss") SubClassOf( ) @@ -25178,7 +25171,7 @@ AnnotationAssertion(Annotation( "MSH:D012166") AnnotationAssertion( "SNOMEDCT_US:28998008") AnnotationAssertion( "UMLS:C0035317") -AnnotationAssertion(Annotation( ) "Retinal bleeding") +AnnotationAssertion(Annotation( ) "Retinal bleeding") AnnotationAssertion(Annotation( ) "Retinal haemorrhage") AnnotationAssertion(Annotation( ) "Retinal haemorrhages") AnnotationAssertion(Annotation( ) Annotation( ) "Retinal hemorrhages") @@ -25196,13 +25189,13 @@ SubClassOf( "PMID:19125427") "Increased density/number and/or increased diameter of eyebrow hairs.") AnnotationAssertion( "HP:0004546") AnnotationAssertion( "UMLS:C1853487") -AnnotationAssertion(Annotation( ) "Bushy eyebrows") -AnnotationAssertion(Annotation( ) "Dense eyebrow") -AnnotationAssertion(Annotation( ) "Heavy eyebrows") +AnnotationAssertion(Annotation( ) "Bushy eyebrows") +AnnotationAssertion(Annotation( ) "Dense eyebrow") +AnnotationAssertion(Annotation( ) "Heavy eyebrows") AnnotationAssertion( "Hypertrichosis of the eyebrow") -AnnotationAssertion(Annotation( ) "Prominent eyebrows") -AnnotationAssertion(Annotation( ) "Thick eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick eyebrows") +AnnotationAssertion(Annotation( ) "Prominent eyebrows") +AnnotationAssertion(Annotation( ) "Thick eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick eyebrows") AnnotationAssertion(Annotation( ) "Hypertrichosis of the eyebrows") AnnotationAssertion( "HP:0000574") AnnotationAssertion( ) @@ -25214,7 +25207,7 @@ SubClassOf( (Scotoma) AnnotationAssertion(Annotation( ) "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.") -AnnotationAssertion(Annotation( ) Annotation( ) "Blind spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Blind spot") AnnotationAssertion( "MSH:D009898") AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:23388006") @@ -25244,7 +25237,7 @@ AnnotationAssertion( "SNOMEDCT_US:399054005") AnnotationAssertion( "SNOMEDCT_US:399252000") AnnotationAssertion( "UMLS:C0015310") -AnnotationAssertion(Annotation( ) Annotation( ) "Outward facing eye ball") +AnnotationAssertion(Annotation( ) Annotation( ) "Outward facing eye ball") AnnotationAssertion( "HP:0000577") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Exotropia") @@ -25261,7 +25254,7 @@ AnnotationAssertion( "SNOMEDCT_US:416920000") AnnotationAssertion( "UMLS:C0022906") AnnotationAssertion( "UMLS:C1281931") -AnnotationAssertion(Annotation( ) Annotation( ) "Blocked tear duct") +AnnotationAssertion(Annotation( ) Annotation( ) "Blocked tear duct") AnnotationAssertion( "Lacrimal duct obstruction") AnnotationAssertion( "HP:0000579") AnnotationAssertion( ) @@ -25299,7 +25292,7 @@ AnnotationAssertion( "MSH:D016569") AnnotationAssertion( "UMLS:C0005744") AnnotationAssertion(Annotation( ) "Decreased width of palpebral fissure") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow opening between the eyelids") AnnotationAssertion( "HP:0000581") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus.") @@ -25316,7 +25309,7 @@ AnnotationAssertion( "Upslanting palpebral fissures") AnnotationAssertion( "Upward slanted palpebral fissures") AnnotationAssertion( "Upward slanting of palpebral fissures") -AnnotationAssertion(Annotation( ) Annotation( ) "Upward slanting of the opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Upward slanting of the opening between the eyelids") AnnotationAssertion( "Upward slanting palpebral fissures") AnnotationAssertion(Annotation( ) "Upslanted palpebral fissures") AnnotationAssertion( "HP:0000582") @@ -25348,9 +25341,9 @@ SubClassOf( ) "Reduced depth of the orbits associated with prominent-appearing ocular globes.") AnnotationAssertion( "HP:0002706") AnnotationAssertion( "UMLS:C1865244") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased depth of eye sockets") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased depth of eye sockets") AnnotationAssertion(Annotation( ) "Decreased depth of orbits") -AnnotationAssertion(Annotation( ) Annotation( ) "Shallow eye sockets") +AnnotationAssertion(Annotation( ) Annotation( ) "Shallow eye sockets") AnnotationAssertion(Annotation( ) "Small shallow orbits") AnnotationAssertion( "HP:0000586") AnnotationAssertion(rdfs:label "Shallow orbits") @@ -25363,7 +25356,7 @@ SubClassOf( ) "Abnormality of the optic nerve.") AnnotationAssertion( "UMLS:C0029131") AnnotationAssertion( "Abnormality of the optic nerve") -AnnotationAssertion(Annotation( ) "Optic nerve issue") +AnnotationAssertion(Annotation( ) "Optic nerve issue") AnnotationAssertion( "optic nerve abnormalities") AnnotationAssertion( "HP:0000587") AnnotationAssertion( ) @@ -25401,7 +25394,7 @@ AnnotationAssertion( "SNOMEDCT_US:92828000") AnnotationAssertion( "SNOMEDCT_US:93390002") AnnotationAssertion( "UMLS:C0009363") -AnnotationAssertion(Annotation( ) "Notched pupil") +AnnotationAssertion(Annotation( ) "Notched pupil") AnnotationAssertion( "Ocular coloboma") AnnotationAssertion( "Ocular colobomas") AnnotationAssertion( "HP:0000589") @@ -25425,7 +25418,7 @@ SubClassOf( (Abnormal sclera morphology) AnnotationAssertion(Annotation( ) "An abnormality of the sclera.") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outer white part of eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outer white part of eyeball") AnnotationAssertion( "UMLS:C4025840") AnnotationAssertion( "Abnormality of the sclera") AnnotationAssertion( "HP:0000591") @@ -25437,14 +25430,14 @@ SubClassOf( (Blue sclerae) AnnotationAssertion(Annotation( ) "An abnormal bluish coloration of the sclera.") -AnnotationAssertion(Annotation( ) Annotation( ) "Blue outer white part of eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Blue outer white part of eyeball") AnnotationAssertion( "SNOMEDCT_US:204164000") AnnotationAssertion( "UMLS:C0542514") AnnotationAssertion( "Blue sclera") AnnotationAssertion( "Bluish sclerae") AnnotationAssertion( "Gray sclerae") AnnotationAssertion(Annotation( ) "Grey sclerae") -AnnotationAssertion(Annotation( ) Annotation( ) "Whites of eyes are a bluish-gray color") +AnnotationAssertion(Annotation( ) Annotation( ) "Whites of eyes are a bluish-gray color") AnnotationAssertion(Annotation( ) "Whites of eyes are a bluish-gray colour") AnnotationAssertion( "HP:0000592") AnnotationAssertion( ) @@ -25486,7 +25479,7 @@ AnnotationAssertion( "Extraocular muscle palsy") AnnotationAssertion( "Extraocular muscle paralysis") AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of extraocular eye movement") -AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of muscles controlling eye movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of muscles controlling eye movement") AnnotationAssertion( "HP:0000597") AnnotationAssertion(rdfs:label "Ophthalmoparesis") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -25497,7 +25490,7 @@ SubClassOf( ) "An abnormality of the ear.") AnnotationAssertion( "SNOMEDCT_US:275259005") AnnotationAssertion( "UMLS:C0266589") -AnnotationAssertion(Annotation( ) "Abnormality of the ear") +AnnotationAssertion(Annotation( ) "Abnormality of the ear") AnnotationAssertion( "Ear anomaly") AnnotationAssertion( "HP:0000598") AnnotationAssertion( ) @@ -25512,8 +25505,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-02-27T05:34:00Z") AnnotationAssertion( "UMLS:C4025839") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hairline at front of head") -AnnotationAssertion(Annotation( ) "Abnormality of the frontal hairline") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hairline at front of head") +AnnotationAssertion(Annotation( ) "Abnormality of the frontal hairline") AnnotationAssertion( "HP:0000599") AnnotationAssertion(rdfs:label "Abnormality of the frontal hairline") SubClassOf( ) @@ -25535,8 +25528,8 @@ AnnotationAssertion(Annotation( "HP:0007877") AnnotationAssertion( "SNOMEDCT_US:44593008") AnnotationAssertion( "UMLS:C0424711") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally close eyes") -AnnotationAssertion(Annotation( ) "Closely spaced eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally close eyes") +AnnotationAssertion(Annotation( ) "Closely spaced eyes") AnnotationAssertion(Annotation( ) "Decreased distance between eye sockets") AnnotationAssertion(Annotation( ) "Decreased distance between eyes") AnnotationAssertion(Annotation( ) "Decreased interpupillary distance") @@ -25554,7 +25547,7 @@ AnnotationAssertion(Annotation( "MSH:D009886") AnnotationAssertion( "SNOMEDCT_US:16110005") AnnotationAssertion( "UMLS:C0029089") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eye muscle paralysis") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eye muscle paralysis") AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of extraocular eye movement") AnnotationAssertion( "HP:0000602") AnnotationAssertion(rdfs:label "Ophthalmoplegia") @@ -25564,12 +25557,12 @@ SubClassOf( (Central scotoma) AnnotationAssertion(Annotation( ) "An area of depressed vision located at the point of fixation and that interferes with central vision.") -AnnotationAssertion(Annotation( ) Annotation( ) "Blind spot located at fixation point") +AnnotationAssertion(Annotation( ) Annotation( ) "Blind spot located at fixation point") AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:38950008") AnnotationAssertion( "UMLS:C0152191") AnnotationAssertion( "UMLS:C4280624") -AnnotationAssertion(Annotation( ) Annotation( ) "Central blind spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Central blind spot") AnnotationAssertion( "Central scotomata") AnnotationAssertion( "HP:0000603") AnnotationAssertion( ) @@ -25590,8 +25583,8 @@ SubClassOf( ) "An abnormality of the region situated around the orbit of the eye.") AnnotationAssertion( "UMLS:C4025837") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the eye socket") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the region around the eye socket") AnnotationAssertion(Annotation( ) "Anomaly of the periorbital region") AnnotationAssertion(Annotation( ) "Deformity of the periorbital region") AnnotationAssertion(Annotation( ) "Malformation of the periorbital region") @@ -25606,7 +25599,7 @@ AnnotationAssertion( "Excess periorbital skin wrinkling") AnnotationAssertion(Annotation( ) "Periorbital rhytids") AnnotationAssertion( "Periorbital wrinkling") -AnnotationAssertion(Annotation( ) Annotation( ) "Wrinkles around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Wrinkles around the eyes") AnnotationAssertion( "HP:0000607") AnnotationAssertion(rdfs:label "Periorbital wrinkles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -25670,7 +25663,7 @@ AnnotationAssertion(Annotation( "HP:0007744") AnnotationAssertion( "HP:0007748") AnnotationAssertion( "UMLS:C0240063") -AnnotationAssertion(Annotation( ) Annotation( ) "Cat eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Cat eye") AnnotationAssertion( "Coloboma of iris") AnnotationAssertion( "Coloboma of the iris") AnnotationAssertion( "Keyhole iris") @@ -25694,8 +25687,8 @@ AnnotationAssertion( "SNOMEDCT_US:409668002") AnnotationAssertion( "UMLS:C0085636") AnnotationAssertion( "UMLS:C4020887") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Extreme sensitivity of the eyes to light") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Light hypersensitivity") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Extreme sensitivity of the eyes to light") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Light hypersensitivity") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Photodysphoria") AnnotationAssertion( "HP:0000613") AnnotationAssertion( ) @@ -25725,9 +25718,9 @@ AnnotationAssertion( "SNOMEDCT_US:274093008") AnnotationAssertion( "UMLS:C0154936") AnnotationAssertion( "Abnormal pupillary morphology") -AnnotationAssertion(Annotation( ) "Abnormality of the pupil") -AnnotationAssertion(Annotation( ) "Pupillary abnormalities") -AnnotationAssertion(Annotation( ) "Pupillary abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of the pupil") +AnnotationAssertion(Annotation( ) "Pupillary abnormalities") +AnnotationAssertion(Annotation( ) "Pupillary abnormality") AnnotationAssertion( "HP:0000615") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal pupil morphology") @@ -25740,8 +25733,8 @@ AnnotationAssertion(Annotation( "MSH:D015877") AnnotationAssertion( "SNOMEDCT_US:63251006") AnnotationAssertion( "UMLS:C0026205") -AnnotationAssertion(Annotation( ) Annotation( ) "Constricted pupils") -AnnotationAssertion(Annotation( ) Annotation( ) "Pupillary constriction") +AnnotationAssertion(Annotation( ) Annotation( ) "Constricted pupils") +AnnotationAssertion(Annotation( ) Annotation( ) "Pupillary constriction") AnnotationAssertion( "HP:0000616") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Miosis") @@ -25772,9 +25765,9 @@ AnnotationAssertion( "SNOMEDCT_US:65956007") AnnotationAssertion( "UMLS:C0271215") AnnotationAssertion( "UMLS:C0456909") -AnnotationAssertion(Annotation( ) "Blindness") +AnnotationAssertion(Annotation( ) "Blindness") AnnotationAssertion( "Total vision loss") -AnnotationAssertion(Annotation( ) "Legal blindness") +AnnotationAssertion(Annotation( ) "Legal blindness") AnnotationAssertion( "HP:0000618") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.") @@ -25810,12 +25803,12 @@ SubClassOf( (Entropion) AnnotationAssertion(Annotation( ) Annotation( "PMID:19125427") "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid folded in") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid folded in") AnnotationAssertion( "MSH:D004774") AnnotationAssertion( "SNOMEDCT_US:33168009") AnnotationAssertion( "UMLS:C0014390") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid turned in") -AnnotationAssertion(Annotation( ) Annotation( ) "Inverted eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid turned in") +AnnotationAssertion(Annotation( ) Annotation( ) "Inverted eyelid") AnnotationAssertion( "HP:0000621") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon.") @@ -25829,7 +25822,7 @@ AnnotationAssertion( "SNOMEDCT_US:111516008") AnnotationAssertion( "SNOMEDCT_US:246636008") AnnotationAssertion( "UMLS:C0344232") -AnnotationAssertion(Annotation( ) "Blurred vision") +AnnotationAssertion(Annotation( ) "Blurred vision") AnnotationAssertion( "HP:0000622") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible.") @@ -25850,9 +25843,9 @@ SubClassOf( "PMID:19125427") "A short discontinuity of the margin of the lower or upper eyelid.") AnnotationAssertion( "SNOMEDCT_US:95202004") AnnotationAssertion( "UMLS:C0521573") -AnnotationAssertion(Annotation( ) "Cleft eyelid") +AnnotationAssertion(Annotation( ) "Cleft eyelid") AnnotationAssertion(Annotation( ) "Full thickness defect of the eyelid") -AnnotationAssertion(Annotation( ) "Notched eyelid") +AnnotationAssertion(Annotation( ) "Notched eyelid") AnnotationAssertion( "HP:0000625") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral.") @@ -25881,10 +25874,10 @@ AnnotationAssertion(Annotation( "UMLS:C1858036") AnnotationAssertion( "Periorbital puffiness") AnnotationAssertion( "Periorbital swelling") -AnnotationAssertion(Annotation( ) Annotation( ) "Puffiness around eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Puffiness around eye") AnnotationAssertion( "Puffy eyes") AnnotationAssertion( "Swelling around the eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "Fullness around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fullness around the eyes") AnnotationAssertion( "HP:0000629") AnnotationAssertion(rdfs:label "Periorbital fullness") SubClassOf( ) @@ -25892,8 +25885,8 @@ SubClassOf( (Abnormal retinal artery morphology) AnnotationAssertion( "UMLS:C4021802") -AnnotationAssertion(Annotation( ) "Abnormality of retinal arteries") -AnnotationAssertion(Annotation( ) "Retinal arterial abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of retinal arteries") +AnnotationAssertion(Annotation( ) "Retinal arterial abnormality") AnnotationAssertion( "HP:0000630") AnnotationAssertion(rdfs:label "Abnormal retinal artery morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -25920,7 +25913,7 @@ SubClassOf( ) "Abnormality of tear production.") AnnotationAssertion( "HP:0000521") AnnotationAssertion( "UMLS:C4021801") -AnnotationAssertion(Annotation( ) "Abnormality of tear production") +AnnotationAssertion(Annotation( ) "Abnormality of tear production") AnnotationAssertion( "HP:0000632") AnnotationAssertion(rdfs:label "Lacrimation abnormality") SubClassOf( ) @@ -25929,7 +25922,7 @@ SubClassOf( ) "Abnormally decreased lacrimation, that is, reduced ability to produce tears.") AnnotationAssertion( "UMLS:C0235857") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tear secretion") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tear secretion") AnnotationAssertion( "HP:0000633") AnnotationAssertion(rdfs:label "Decreased lacrimation") SubClassOf( ) @@ -25947,7 +25940,7 @@ SubClassOf( ) "A markedly blue coloration of the iris.") AnnotationAssertion( "SNOMEDCT_US:301952009") AnnotationAssertion( "UMLS:C0578626") -AnnotationAssertion(Annotation( ) "Blue eyes") +AnnotationAssertion(Annotation( ) "Blue eyes") AnnotationAssertion( "HP:0000635") AnnotationAssertion(rdfs:label "Blue irides") SubClassOf( ) @@ -25956,10 +25949,10 @@ SubClassOf( ) "A short discontinuity of the margin of the upper eyelid.") AnnotationAssertion( "UMLS:C1863872") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft upper eyelid") AnnotationAssertion( "Coloboma of the upper eyelid") AnnotationAssertion(Annotation( ) "Full thickness defect of the upper eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched upper eyelid") AnnotationAssertion( "Upper eyelid colobomas") AnnotationAssertion( "HP:0000636") AnnotationAssertion(rdfs:label "Upper eyelid coloboma") @@ -25971,11 +25964,11 @@ SubClassOf( "PMID:19125427") "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.") AnnotationAssertion( "HP:0007904") AnnotationAssertion( "UMLS:C1849340") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad opening between the eyelids") AnnotationAssertion(Annotation( ) "Broad palpebral fissure") -AnnotationAssertion(Annotation( ) Annotation( ) "Long opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Long opening between the eyelids") AnnotationAssertion(Annotation( ) "Long palpebral fissures") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide opening between the eyelids") AnnotationAssertion(Annotation( ) "Wide palpebral fissure") AnnotationAssertion( "Wide palpebral fissures") AnnotationAssertion( "HP:0000637") @@ -25990,7 +25983,7 @@ AnnotationAssertion(Annotation( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:563001") AnnotationAssertion( "UMLS:C0028738") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary, rapid, rhythmic eye movements") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary, rapid, rhythmic eye movements") AnnotationAssertion( "HP:0000639") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Nystagmus") @@ -26013,7 +26006,7 @@ AnnotationAssertion(Annotation( "UMLS:C1836392") AnnotationAssertion(Annotation( ) Annotation( ) "Dysmetric eye movements") AnnotationAssertion( "Dysmetric eye saccades") -AnnotationAssertion(Annotation( ) Annotation( ) "Uncoordinated eye movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Uncoordinated eye movement") AnnotationAssertion( "HP:0000641") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Dysmetric saccades") @@ -26029,7 +26022,7 @@ AnnotationAssertion( "UMLS:C0155016") AnnotationAssertion( "UMLS:C1970168") AnnotationAssertion( "Dyschromatopsia with red-green confusion") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Red green color blindness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Red green color blindness") AnnotationAssertion(Annotation( ) "Red green colour blindness") AnnotationAssertion(Annotation( ) "Red/green color vision defect") AnnotationAssertion(Annotation( ) "Red/green colour vision defect") @@ -26044,10 +26037,10 @@ AnnotationAssertion( "MSH:D001764") AnnotationAssertion( "SNOMEDCT_US:59026006") AnnotationAssertion( "UMLS:C0005747") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eyelid spasm") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eyelid twitching") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary closure of eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous closure of eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eyelid spasm") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eyelid twitching") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary closure of eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous closure of eyelid") AnnotationAssertion( "HP:0000643") AnnotationAssertion(rdfs:label "Blepharospasm") SubClassOf( ) @@ -26059,8 +26052,8 @@ AnnotationAssertion(Annotation( "MSH:D000550") AnnotationAssertion( "SNOMEDCT_US:387742006") AnnotationAssertion( "UMLS:C0002418") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Lazy eye") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Wandering eye") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Lazy eye") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Wandering eye") AnnotationAssertion(Annotation( ) "Wandering eyes") AnnotationAssertion( "HP:0000646") AnnotationAssertion( ) @@ -26073,7 +26066,7 @@ SubClassOf( ) "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.") AnnotationAssertion( "MSH:C565209") AnnotationAssertion( "UMLS:C1853235") -AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of skin and connective tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of skin and connective tissue") AnnotationAssertion( "HP:0000647") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Sclerocornea") @@ -26125,7 +26118,7 @@ AnnotationAssertion(Annotation( "MSH:D004172") AnnotationAssertion( "SNOMEDCT_US:24982008") AnnotationAssertion( "UMLS:C0012569") -AnnotationAssertion(Annotation( ) "Double vision") +AnnotationAssertion(Annotation( ) "Double vision") AnnotationAssertion( "HP:0000651") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Diplopia") @@ -26136,11 +26129,11 @@ SubClassOf( ) "A short discontinuity of the margin of the lower eyelid.") AnnotationAssertion( "HP:0007909") AnnotationAssertion( "UMLS:C1837826") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft lower eyelid") AnnotationAssertion( "Coloboma of lower eyelid") AnnotationAssertion(Annotation( ) "Full thickness defect of the lower eyelid") AnnotationAssertion( "Lower lid coloboma") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched lower eyelid") AnnotationAssertion( "HP:0000652") AnnotationAssertion(rdfs:label "Lower eyelid coloboma") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -26158,10 +26151,10 @@ AnnotationAssertion( "UMLS:C1843300") AnnotationAssertion(Annotation( ) "Hypotrichosis of eyelashes") AnnotationAssertion(Annotation( ) "Partial absence of eyelashes") -AnnotationAssertion(Annotation( ) "Scant eyelashes") -AnnotationAssertion(Annotation( ) "Scanty eyelashes") -AnnotationAssertion(Annotation( ) "Sparse eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin eyelashes") +AnnotationAssertion(Annotation( ) "Scant eyelashes") +AnnotationAssertion(Annotation( ) "Scanty eyelashes") +AnnotationAssertion(Annotation( ) "Sparse eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin eyelashes") AnnotationAssertion( "HP:0000653") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Sparse eyelashes") @@ -26199,13 +26192,13 @@ AnnotationAssertion(owl:deprecated " # Class: (Ectropion) AnnotationAssertion(Annotation( "PMID:19125427") "An outward turning (eversion) or rotation of the eyelid margin.") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid folded out") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid folded out") AnnotationAssertion( "MSH:D004483") AnnotationAssertion( "SNOMEDCT_US:127559009") AnnotationAssertion( "SNOMEDCT_US:62909004") AnnotationAssertion( "UMLS:C0013592") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid turned out") -AnnotationAssertion(Annotation( ) Annotation( ) "Everted eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid turned out") +AnnotationAssertion(Annotation( ) Annotation( ) "Everted eyelid") AnnotationAssertion( "HP:0000656") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid.") @@ -26235,7 +26228,7 @@ SubClassOf( "SNOMEDCT_US:423142006") AnnotationAssertion( "UMLS:C1142448") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty opening the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty opening the eyelids") AnnotationAssertion( "HP:0000658") AnnotationAssertion(rdfs:label "Eyelid apraxia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -26281,10 +26274,10 @@ AnnotationAssertion( "SNOMEDCT_US:65194006") AnnotationAssertion( "UMLS:C0028077") AnnotationAssertion( "UMLS:C4020885") -AnnotationAssertion(Annotation( ) "Night blindness") -AnnotationAssertion(Annotation( ) "Night-blindness") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Poor night vision") -AnnotationAssertion(Annotation( ) "Difficulties with night vision") +AnnotationAssertion(Annotation( ) "Night blindness") +AnnotationAssertion(Annotation( ) "Night-blindness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Poor night vision") +AnnotationAssertion(Annotation( ) "Difficulties with night vision") AnnotationAssertion( "HP:0000662") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Nyctalopia") @@ -26296,9 +26289,9 @@ AnnotationAssertion(Annotation( "HP:0002210") AnnotationAssertion( "SNOMEDCT_US:253207002") AnnotationAssertion( "UMLS:C0431447") -AnnotationAssertion(Annotation( ) Annotation( ) "Monobrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Monobrow") AnnotationAssertion( "Synophris") -AnnotationAssertion(Annotation( ) "Unibrow") +AnnotationAssertion(Annotation( ) "Unibrow") AnnotationAssertion( "HP:0000664") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Synophrys") @@ -26335,8 +26328,8 @@ AnnotationAssertion(Annotation( "MSH:D000848") AnnotationAssertion( "SNOMEDCT_US:64969001") AnnotationAssertion( "UMLS:C0020608") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of between one and six teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing between one and six teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of between one and six teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing between one and six teeth") AnnotationAssertion( "HP:0000668") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well.") @@ -26355,13 +26348,13 @@ AnnotationAssertion( "Caries") AnnotationAssertion(Annotation( ) "Cariosity of teeth") AnnotationAssertion( "Dental caries") -AnnotationAssertion(Annotation( ) Annotation( ) "Dental cavities") +AnnotationAssertion(Annotation( ) Annotation( ) "Dental cavities") AnnotationAssertion( "Early dental caries") AnnotationAssertion( "Frequent caries") -AnnotationAssertion(Annotation( ) Annotation( ) "Tooth cavities") -AnnotationAssertion(Annotation( ) Annotation( ) "Tooth decay") -AnnotationAssertion(Annotation( ) "Dental decay") -AnnotationAssertion(Annotation( ) Annotation( ) "Rotting teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Tooth cavities") +AnnotationAssertion(Annotation( ) Annotation( ) "Tooth decay") +AnnotationAssertion(Annotation( ) "Dental decay") +AnnotationAssertion(Annotation( ) Annotation( ) "Rotting teeth") AnnotationAssertion( "HP:0000670") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.") @@ -26380,11 +26373,11 @@ AnnotationAssertion( ) "Anodontia vera") AnnotationAssertion(Annotation( ) "Complete agenesis of all teeth") AnnotationAssertion( "Complete dental agenesis") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of all teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of all teeth") AnnotationAssertion(Annotation( ) "Complete anodontia") AnnotationAssertion(Annotation( ) "Total anodontia") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing all teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Total absence of all teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing all teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Total absence of all teeth") AnnotationAssertion( "HP:0000674") AnnotationAssertion(rdfs:comment "Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth.") AnnotationAssertion(rdfs:label "Anodontia") @@ -26430,10 +26423,10 @@ AnnotationAssertion(Annotation( "HP:0000702") AnnotationAssertion( "UMLS:C4082304") AnnotationAssertion( "UMLS:C4280619") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of more than six teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of more than six teeth") AnnotationAssertion( "Partial anodontia") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing more than six teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Number of teeth decreased by more than six") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing more than six teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Number of teeth decreased by more than six") AnnotationAssertion( "HP:0000677") AnnotationAssertion(rdfs:comment "The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001].") AnnotationAssertion(rdfs:label "Oligodontia") @@ -26444,7 +26437,7 @@ SubClassOf( "PMID:19125428") Annotation( "PMID:31468724") "Changes in alignment of teeth in the dental arch") AnnotationAssertion(Annotation( ) "Inadequate arch length for tooth size") AnnotationAssertion(Annotation( ) "Tooth mass arch size discrepancy") -AnnotationAssertion(Annotation( ) Annotation( ) "Tooth size discrepancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Tooth size discrepancy") AnnotationAssertion( "MSH:D008310") AnnotationAssertion( "SNOMEDCT_US:12351004") AnnotationAssertion( "SNOMEDCT_US:699222000") @@ -26452,10 +26445,10 @@ AnnotationAssertion( "UMLS:C1317785") AnnotationAssertion( "UMLS:C4280617") AnnotationAssertion( "UMLS:C4280618") -AnnotationAssertion(Annotation( ) "Crowded teeth") -AnnotationAssertion(Annotation( ) "Dental crowding") -AnnotationAssertion(Annotation( ) "Dental overcrowding") -AnnotationAssertion(Annotation( ) Annotation( ) "Overcrowding of teeth") +AnnotationAssertion(Annotation( ) "Crowded teeth") +AnnotationAssertion(Annotation( ) "Dental crowding") +AnnotationAssertion(Annotation( ) "Dental overcrowding") +AnnotationAssertion(Annotation( ) Annotation( ) "Overcrowding of teeth") AnnotationAssertion( "HP:0000678") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Overlapping teeth within an alveolar ridge.") @@ -26486,12 +26479,12 @@ SubClassOf( ) "Delayed tooth eruption affecting the primary dentition.") AnnotationAssertion( "UMLS:C1849538") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed eruption of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed eruption of baby teeth") AnnotationAssertion( "Delayed eruption of deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed eruption of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed eruption of milk teeth") AnnotationAssertion( "Delayed primary teeth eruption") -AnnotationAssertion(Annotation( ) Annotation( ) "Late eruption of baby teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Late eruption of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Late eruption of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Late eruption of milk teeth") AnnotationAssertion(Annotation( ) "Late eruption of primary teeth") AnnotationAssertion( "HP:0000680") AnnotationAssertion(rdfs:label "Delayed eruption of primary teeth") @@ -26506,14 +26499,14 @@ AnnotationAssertion( "UMLS:C4021800") AnnotationAssertion( "UMLS:C4280262") AnnotationAssertion( "UMLS:C4280615") -AnnotationAssertion(Annotation( ) "Abnormal tooth enamel") +AnnotationAssertion(Annotation( ) "Abnormal tooth enamel") AnnotationAssertion( "Abnormality of dental enamel") -AnnotationAssertion(Annotation( ) "Enamel abnormalities") -AnnotationAssertion(Annotation( ) "Enamel abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) "Defective tooth enamel") +AnnotationAssertion(Annotation( ) "Enamel abnormalities") +AnnotationAssertion(Annotation( ) "Enamel abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Defective tooth enamel") AnnotationAssertion(Annotation( ) "Dystrophic tooth enamel") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of dental enamel") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of tooth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of dental enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of tooth enamel") AnnotationAssertion( "HP:0000682") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite.") @@ -26526,12 +26519,12 @@ SubClassOf( ) "A grey discoloration of the dental enamel.") AnnotationAssertion( "UMLS:C1854783") -AnnotationAssertion(Annotation( ) Annotation( ) "Gray colored tooth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Gray colored tooth enamel") AnnotationAssertion(Annotation( ) "Gray tooth shade") -AnnotationAssertion(Annotation( ) "Grayish enamel") +AnnotationAssertion(Annotation( ) "Grayish enamel") AnnotationAssertion(Annotation( ) "Grey coloured tooth enamel") AnnotationAssertion(Annotation( ) "Grey tooth shade") -AnnotationAssertion(Annotation( ) "Greyish enamel") +AnnotationAssertion(Annotation( ) "Greyish enamel") AnnotationAssertion( "HP:0000683") AnnotationAssertion(rdfs:comment "Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present.") AnnotationAssertion(rdfs:label "Grayish enamel") @@ -26550,13 +26543,13 @@ AnnotationAssertion( "UMLS:C0239174") AnnotationAssertion( "Delayed dental development") AnnotationAssertion( "Delayed dental eruption") -AnnotationAssertion(Annotation( ) "Delayed eruption") -AnnotationAssertion(Annotation( ) "Delayed eruption of teeth") -AnnotationAssertion(Annotation( ) "Delayed teeth eruption") -AnnotationAssertion(Annotation( ) "Delayed tooth eruption") -AnnotationAssertion(Annotation( ) "Eruption, delayed") -AnnotationAssertion(Annotation( ) "Late eruption of teeth") -AnnotationAssertion(Annotation( ) "Late tooth eruption") +AnnotationAssertion(Annotation( ) "Delayed eruption") +AnnotationAssertion(Annotation( ) "Delayed eruption of teeth") +AnnotationAssertion(Annotation( ) "Delayed teeth eruption") +AnnotationAssertion(Annotation( ) "Delayed tooth eruption") +AnnotationAssertion(Annotation( ) "Eruption, delayed") +AnnotationAssertion(Annotation( ) "Late eruption of teeth") +AnnotationAssertion(Annotation( ) "Late tooth eruption") AnnotationAssertion( "HP:0000684") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations.") @@ -26569,8 +26562,8 @@ AnnotationAssertion(Annotation( "HP:0000688") AnnotationAssertion( "HP:0006281") AnnotationAssertion( "HP:0006307") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of teeth") AnnotationAssertion( "UMLS:C0235357") AnnotationAssertion( "UMLS:C4280611") AnnotationAssertion( "Hypoplastic teeth") @@ -26588,9 +26581,9 @@ AnnotationAssertion(Annotation( ) "Generalized dental spacing") AnnotationAssertion(Annotation( ) "Generalized spacing of teeth") AnnotationAssertion( "Multiple diastemata") -AnnotationAssertion(Annotation( ) "Wide-spaced teeth") -AnnotationAssertion(Annotation( ) "Widely spaced teeth") -AnnotationAssertion(Annotation( ) "Widely-spaced teeth") +AnnotationAssertion(Annotation( ) "Wide-spaced teeth") +AnnotationAssertion(Annotation( ) "Widely spaced teeth") +AnnotationAssertion(Annotation( ) "Widely-spaced teeth") AnnotationAssertion( "HP:0000687") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema.") @@ -26606,14 +26599,14 @@ AnnotationAssertion( "UMLS:C0024636") AnnotationAssertion( "UMLS:C4280613") AnnotationAssertion( "UMLS:C4280614") -AnnotationAssertion(Annotation( ) Annotation( ) "Bad bite") +AnnotationAssertion(Annotation( ) Annotation( ) "Bad bite") AnnotationAssertion(Annotation( ) Annotation( ) "Bilateral crossbite") AnnotationAssertion(Annotation( ) Annotation( ) "Bilateral crossbite malocclusion") AnnotationAssertion(Annotation( ) "Incorrect relation between upper and lower dental arches") -AnnotationAssertion(Annotation( ) Annotation( ) "Malalignment of upper and lower dental arches") +AnnotationAssertion(Annotation( ) Annotation( ) "Malalignment of upper and lower dental arches") AnnotationAssertion( "Malocclusion") AnnotationAssertion(Annotation( ) "Malocclusion of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Misalignment of upper and lower dental arches") +AnnotationAssertion(Annotation( ) Annotation( ) "Misalignment of upper and lower dental arches") AnnotationAssertion( "Occlusion anomaly") AnnotationAssertion(Annotation( ) "Angle class 2 malocclusion") AnnotationAssertion(Annotation( ) "Angle class 3 malocclusion") @@ -26630,9 +26623,9 @@ AnnotationAssertion( "Absent upper lateral incisors") AnnotationAssertion(Annotation( ) "Failure of development of maxillary lateral incisor") AnnotationAssertion(Annotation( ) "Absence of maxillary lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper lateral incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper lateral incisor") AnnotationAssertion(Annotation( ) "Missing maxillary lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper lateral incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper lateral incisor") AnnotationAssertion( "HP:0000690") AnnotationAssertion(rdfs:label "Agenesis of maxillary lateral incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -26647,10 +26640,10 @@ AnnotationAssertion( "UMLS:C0240340") AnnotationAssertion( "UMLS:C4280611") AnnotationAssertion( "UMLS:C4280612") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of tooth") AnnotationAssertion( "Small teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Small tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small tooth") AnnotationAssertion( "Tooth hypoplasia") AnnotationAssertion( "Tooth hypotrophy") AnnotationAssertion( "Underdeveloped tooth") @@ -26668,18 +26661,18 @@ AnnotationAssertion( "HP:0001569") AnnotationAssertion( "HP:0006303") AnnotationAssertion( "HP:0006478") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of position of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of position of teeth") AnnotationAssertion( "UMLS:C1852504") AnnotationAssertion( "UMLS:C4280610") -AnnotationAssertion(Annotation( ) "Abnormal dental position") -AnnotationAssertion(Annotation( ) "Abnormal teeth spacing") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of alignment of teeth") -AnnotationAssertion(Annotation( ) "Abnormality of teeth spacing") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked teeth") -AnnotationAssertion(Annotation( ) "Malaligned teeth") -AnnotationAssertion(Annotation( ) "Malposition of teeth") -AnnotationAssertion(Annotation( ) "Malpositioned teeth") -AnnotationAssertion(Annotation( ) "Misalignment of teeth") +AnnotationAssertion(Annotation( ) "Abnormal dental position") +AnnotationAssertion(Annotation( ) "Abnormal teeth spacing") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of alignment of teeth") +AnnotationAssertion(Annotation( ) "Abnormality of teeth spacing") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked teeth") +AnnotationAssertion(Annotation( ) "Malaligned teeth") +AnnotationAssertion(Annotation( ) "Malposition of teeth") +AnnotationAssertion(Annotation( ) "Malpositioned teeth") +AnnotationAssertion(Annotation( ) "Misalignment of teeth") AnnotationAssertion( "Teeth, malposition") AnnotationAssertion( "HP:0000692") AnnotationAssertion(rdfs:label "Tooth malposition") @@ -26707,10 +26700,10 @@ AnnotationAssertion( "SNOMEDCT_US:21995002") AnnotationAssertion( "SNOMEDCT_US:58748004") AnnotationAssertion( "UMLS:C0027443") -AnnotationAssertion(Annotation( ) Annotation( ) "Born with teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Born with teeth") AnnotationAssertion( "Natal teeth") AnnotationAssertion( "Neonatal teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Teeth present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Teeth present at birth") AnnotationAssertion( "HP:0000695") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation.") @@ -26721,8 +26714,8 @@ SubClassOf( ) "Delayed tooth eruption affecting the secondary dentition.") AnnotationAssertion( "UMLS:C1849540") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed eruption of adult teeth") -AnnotationAssertion(Annotation( ) "Delayed eruption of permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed eruption of adult teeth") +AnnotationAssertion(Annotation( ) "Delayed eruption of permanent teeth") AnnotationAssertion( "Delayed eruption of secondary dentition") AnnotationAssertion( "Delayed eruption of secondary teeth") AnnotationAssertion( "Delayed permanent dentition") @@ -26737,15 +26730,15 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:29553002") AnnotationAssertion( "UMLS:C0266037") AnnotationAssertion( "UMLS:C4012359") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped tooth") AnnotationAssertion(Annotation( ) "Conoid tooth") AnnotationAssertion( "Peg shaped teeth") AnnotationAssertion( "Peg tooth") AnnotationAssertion( "Peg-shaped teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Shark tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Shark tooth") AnnotationAssertion( "Conical teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed tooth") AnnotationAssertion( "HP:0000698") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately.") @@ -26756,7 +26749,7 @@ SubClassOf( (Diastema) AnnotationAssertion(Annotation( "PMID:19125428") "Increased space between two adjacent teeth in the same dental arch.") -AnnotationAssertion(Annotation( ) Annotation( ) "Gaps between teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Gaps between teeth") AnnotationAssertion( "MSH:D003970") AnnotationAssertion( "SNOMEDCT_US:35591002") AnnotationAssertion( "UMLS:C0011998") @@ -26764,7 +26757,7 @@ AnnotationAssertion(Annotation( ) "Dental diastema") AnnotationAssertion(Annotation( ) "Diastasis of the teeth") AnnotationAssertion(Annotation( ) "Diastema of the teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Gap between teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Gap between teeth") AnnotationAssertion( "HP:0000699") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth.") @@ -26782,9 +26775,9 @@ AnnotationAssertion( "UMLS:C0034543") AnnotationAssertion( "UMLS:C1852169") AnnotationAssertion( "UMLS:C4280609") -AnnotationAssertion(Annotation( ) Annotation( ) "Dark spot around tooth root on x-ray") +AnnotationAssertion(Annotation( ) Annotation( ) "Dark spot around tooth root on x-ray") AnnotationAssertion(Annotation( ) "Periapical lesion") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone loss around tooth root") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone loss around tooth root") AnnotationAssertion(Annotation( ) "Periapical cyst") AnnotationAssertion(Annotation( ) "Periapical granuloma") AnnotationAssertion( "Periapical radiolucencies") @@ -26813,7 +26806,7 @@ SubClassOf( ) "Inflammation of the periodontium.") AnnotationAssertion( "HP:0000165") AnnotationAssertion( "HP:0006301") -AnnotationAssertion(Annotation( ) Annotation( ) "Gum disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Gum disease") AnnotationAssertion( "Periodontal disease") AnnotationAssertion( "MSH:D005882") AnnotationAssertion( "MSH:D010510") @@ -26857,10 +26850,10 @@ AnnotationAssertion(Annotation( ) "Unerupted dentition") AnnotationAssertion( "SNOMEDCT_US:109542004") AnnotationAssertion( "UMLS:C1290587") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of eruption of tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of eruption of tooth") AnnotationAssertion( "Pseudo-anodontia") AnnotationAssertion( "Pseudoanodontia") -AnnotationAssertion(Annotation( ) "Unerupted tooth") +AnnotationAssertion(Annotation( ) "Unerupted tooth") AnnotationAssertion( "HP:0000706") AnnotationAssertion(rdfs:comment "Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations.") AnnotationAssertion(rdfs:label "Eruption failure") @@ -26871,13 +26864,13 @@ SubClassOf( ) "An abnormality of the nervous system.") AnnotationAssertion( "HP:0001333") AnnotationAssertion( "HP:0006987") -AnnotationAssertion(Annotation( ) "Brain and/or spinal cord issue") +AnnotationAssertion(Annotation( ) "Brain and/or spinal cord issue") AnnotationAssertion( "MSH:D009421") AnnotationAssertion( "SNOMEDCT_US:88425004") AnnotationAssertion( "UMLS:C0497552") -AnnotationAssertion(Annotation( ) "Abnormality of the nervous system") -AnnotationAssertion(Annotation( ) "Neurologic abnormalities") -AnnotationAssertion(Annotation( ) "Neurological abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of the nervous system") +AnnotationAssertion(Annotation( ) "Neurologic abnormalities") +AnnotationAssertion(Annotation( ) "Neurological abnormality") AnnotationAssertion( "HP:0000707") AnnotationAssertion(rdfs:comment "The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.") AnnotationAssertion(rdfs:label "Abnormality of the nervous system") @@ -26901,22 +26894,22 @@ AnnotationAssertion( "SNOMEDCT_US:277843001") AnnotationAssertion( "UMLS:C0004941") AnnotationAssertion( "UMLS:C0233514") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral changes") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral disorders") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral disturbances") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral problems") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral changes") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral disorders") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral disturbances") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral problems") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral symptoms") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral/psychiatric abnormalities") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioral/psychiatric abnormalities") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural abnormality") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural changes") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural disorders") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural disturbances") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural problems") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural symptoms") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural/Psychiatric abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Psychiatric disorders") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Psychiatric disturbances") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Behavioural/Psychiatric abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Psychiatric disorders") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Psychiatric disturbances") AnnotationAssertion( "HP:0000708") AnnotationAssertion(rdfs:label "Atypical behavior") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -26928,7 +26921,7 @@ AnnotationAssertion(Annotation( "MSH:D011618") AnnotationAssertion( "SNOMEDCT_US:69322001") AnnotationAssertion( "UMLS:C0033975") -AnnotationAssertion(Annotation( ) "Psychosis") +AnnotationAssertion(Annotation( ) "Psychosis") AnnotationAssertion( "HP:0000709") AnnotationAssertion(rdfs:label "Psychosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -26974,11 +26967,11 @@ AnnotationAssertion( "HP:0008766") AnnotationAssertion( "SNOMEDCT_US:18963009") AnnotationAssertion( "UMLS:C0085633") -AnnotationAssertion(Annotation( ) "Emotional instability") +AnnotationAssertion(Annotation( ) "Emotional instability") AnnotationAssertion( "Mood alterations") -AnnotationAssertion(Annotation( ) "Mood changes") +AnnotationAssertion(Annotation( ) "Mood changes") AnnotationAssertion( "Mood lability") -AnnotationAssertion(Annotation( ) "Mood swings") +AnnotationAssertion(Annotation( ) "Mood swings") AnnotationAssertion( "HP:0000712") AnnotationAssertion(rdfs:label "Emotional lability") SubClassOf( ) @@ -27007,7 +27000,7 @@ AnnotationAssertion( "SNOMEDCT_US:35489007") AnnotationAssertion( "SNOMEDCT_US:78667006") AnnotationAssertion( "UMLS:C0011581") -AnnotationAssertion(Annotation( ) "Depression") +AnnotationAssertion(Annotation( ) "Depression") AnnotationAssertion( "Depressivity") AnnotationAssertion( "Depressive disorder") AnnotationAssertion( "HP:0000716") @@ -27023,7 +27016,7 @@ AnnotationAssertion( "SNOMEDCT_US:408857007") AnnotationAssertion( "SNOMEDCT_US:43614003") AnnotationAssertion( "UMLS:C0004352") -AnnotationAssertion(Annotation( ) "Autism") +AnnotationAssertion(Annotation( ) "Autism") AnnotationAssertion( "HP:0000717") AnnotationAssertion(rdfs:comment "The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism.") AnnotationAssertion(rdfs:label "Autism") @@ -27038,11 +27031,11 @@ AnnotationAssertion( "UMLS:C0001807") AnnotationAssertion( "UMLS:C0424323") AnnotationAssertion( "UMLS:C1457883") -AnnotationAssertion(Annotation( ) "Aggression") -AnnotationAssertion(Annotation( ) "Aggressive behavior") -AnnotationAssertion(Annotation( ) "Aggressive behaviour") -AnnotationAssertion(Annotation( ) "Aggressiveness") -AnnotationAssertion(Annotation( ) "physical aggression") +AnnotationAssertion(Annotation( ) "Aggression") +AnnotationAssertion(Annotation( ) "Aggressive behavior") +AnnotationAssertion(Annotation( ) "Aggressive behaviour") +AnnotationAssertion(Annotation( ) "Aggressiveness") +AnnotationAssertion(Annotation( ) "physical aggression") AnnotationAssertion( "HP:0000718") AnnotationAssertion(rdfs:label "Aggressive behavior") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27052,7 +27045,7 @@ SubClassOf( "SNOMEDCT_US:112082005") AnnotationAssertion( "UMLS:C0233522") -AnnotationAssertion(Annotation( ) "Inappropriate behavior") +AnnotationAssertion(Annotation( ) "Inappropriate behavior") AnnotationAssertion(Annotation( ) "Inappropriate behaviour") AnnotationAssertion( "HP:0000719") AnnotationAssertion(rdfs:label "Inappropriate behavior") @@ -27069,7 +27062,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Lack of spontaneous play) AnnotationAssertion( "UMLS:C1837650") -AnnotationAssertion(Annotation( ) "Lack of spontaneous play") +AnnotationAssertion(Annotation( ) "Lack of spontaneous play") AnnotationAssertion( "HP:0000721") AnnotationAssertion(rdfs:label "Lack of spontaneous play") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27090,10 +27083,10 @@ AnnotationAssertion( "UMLS:C0028768") AnnotationAssertion( "UMLS:C0600104") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "OCD") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive compulsive behavior") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive compulsive behavior") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive compulsive behaviour") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive compulsive disorder") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive-compulsive behavior") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive-compulsive behavior") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive-compulsive behaviour") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Obsessive-compulsive disorder") AnnotationAssertion( "HP:0000722") @@ -27117,7 +27110,7 @@ SubClassOf( (Psychotic episodes) AnnotationAssertion( "UMLS:C0338614") -AnnotationAssertion(Annotation( ) "Psychotic episodes") +AnnotationAssertion(Annotation( ) "Psychotic episodes") AnnotationAssertion( "HP:0000725") AnnotationAssertion(rdfs:label "Psychotic episodes") SubClassOf( ) @@ -27132,9 +27125,9 @@ AnnotationAssertion( "MSH:D003704") AnnotationAssertion( "SNOMEDCT_US:52448006") AnnotationAssertion( "UMLS:C0497327") -AnnotationAssertion(Annotation( ) "Dementia") -AnnotationAssertion(Annotation( ) "Dementia, progressive") -AnnotationAssertion(Annotation( ) "Progressive dementia") +AnnotationAssertion(Annotation( ) "Dementia") +AnnotationAssertion(Annotation( ) "Dementia, progressive") +AnnotationAssertion(Annotation( ) "Progressive dementia") AnnotationAssertion( "HP:0000726") AnnotationAssertion(rdfs:label "Dementia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27165,8 +27158,8 @@ AnnotationAssertion( ) "ASD") AnnotationAssertion(Annotation( ) "Autistic behaviour") AnnotationAssertion( "Pervasive developmental disorder") -AnnotationAssertion(Annotation( ) "Autism spectrum disorder") -AnnotationAssertion(Annotation( ) Annotation( ) "Autism spectrum disorders") +AnnotationAssertion(Annotation( ) "Autism spectrum disorder") +AnnotationAssertion(Annotation( ) Annotation( ) "Autism spectrum disorders") AnnotationAssertion(Annotation( ) "Autistic behaviors") AnnotationAssertion(Annotation( ) "Autistic behaviours") AnnotationAssertion( "HP:0000729") @@ -27206,7 +27199,7 @@ AnnotationAssertion( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Motor stereotypy") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Repetitive behaviour Stereotypic behavior") AnnotationAssertion(Annotation( ) "Repetitive behaviour Stereotypic behaviour") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Repetitive movements") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Repetitive movements") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Stereotyped") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Stereotyped behavior") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Stereotyped behaviors") @@ -27248,9 +27241,9 @@ AnnotationAssertion(Annotation( "MSH:D000067404") AnnotationAssertion( "SNOMEDCT_US:88598008") AnnotationAssertion( "UMLS:C0150080") -AnnotationAssertion(Annotation( ) "Impaired social interaction") -AnnotationAssertion(Annotation( ) "Impaired social interactions") -AnnotationAssertion(Annotation( ) "Poor social interactions") +AnnotationAssertion(Annotation( ) "Impaired social interaction") +AnnotationAssertion(Annotation( ) "Impaired social interactions") +AnnotationAssertion(Annotation( ) "Poor social interactions") AnnotationAssertion( "HP:0000735") AnnotationAssertion(rdfs:label "Impaired social interactions") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27268,9 +27261,9 @@ AnnotationAssertion(dcterms:contributor "SNOMEDCT_US:247762003") AnnotationAssertion( "UMLS:C0262630") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Easily distracted") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Poor attention span") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Problem paying attention") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Short attention span") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Poor attention span") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Problem paying attention") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Short attention span") AnnotationAssertion( "HP:0000736") AnnotationAssertion(rdfs:label "Short attention span") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27280,8 +27273,8 @@ SubClassOf( "PMID:27343883") "A proneness to anger, i.e., a condition of being easily bothered or annoyed.") AnnotationAssertion( "UMLS:C2700617") -AnnotationAssertion(Annotation( ) "Irritability") -AnnotationAssertion(Annotation( ) "Irritable") +AnnotationAssertion(Annotation( ) "Irritability") +AnnotationAssertion(Annotation( ) "Irritable") AnnotationAssertion( "HP:0000737") AnnotationAssertion(rdfs:label "Irritability") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27294,9 +27287,9 @@ AnnotationAssertion( "SNOMEDCT_US:7011001") AnnotationAssertion( "UMLS:C0018524") AnnotationAssertion( "UMLS:C0235153") -AnnotationAssertion(Annotation( ) "Hallucination") -AnnotationAssertion(Annotation( ) "Hallucinations") -AnnotationAssertion(Annotation( ) Annotation( ) "Sensory hallucination") +AnnotationAssertion(Annotation( ) "Hallucination") +AnnotationAssertion(Annotation( ) "Hallucinations") +AnnotationAssertion(Annotation( ) Annotation( ) "Sensory hallucination") AnnotationAssertion( "HP:0000738") AnnotationAssertion(rdfs:label "Hallucinations") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27309,10 +27302,10 @@ AnnotationAssertion( "SNOMEDCT_US:48694002") AnnotationAssertion( "UMLS:C0003467") AnnotationAssertion( "UMLS:C4020884") -AnnotationAssertion(Annotation( ) "Anxiety") +AnnotationAssertion(Annotation( ) "Anxiety") AnnotationAssertion( "Anxiousness") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive, persistent worry and fear") -AnnotationAssertion(Annotation( ) "Anxiety disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive, persistent worry and fear") +AnnotationAssertion(Annotation( ) "Anxiety disease") AnnotationAssertion( "HP:0000739") AnnotationAssertion(rdfs:label "Anxiety") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27333,7 +27326,7 @@ SubClassOf( "MSH:D057565") AnnotationAssertion( "SNOMEDCT_US:20602000") AnnotationAssertion( "UMLS:C0085632") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of feeling, emotion, interest") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of feeling, emotion, interest") AnnotationAssertion( "HP:0000741") AnnotationAssertion(rdfs:label "Apathy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27344,9 +27337,9 @@ SubClassOf( "MSH:D012652") AnnotationAssertion( "SNOMEDCT_US:130968006") AnnotationAssertion( "UMLS:C0036601") -AnnotationAssertion(Annotation( ) Annotation( ) "Deliberate self-harm") -AnnotationAssertion(Annotation( ) "Self mutilation") -AnnotationAssertion(Annotation( ) "Self-mutilation") +AnnotationAssertion(Annotation( ) Annotation( ) "Deliberate self-harm") +AnnotationAssertion(Annotation( ) "Self mutilation") +AnnotationAssertion(Annotation( ) "Self-mutilation") AnnotationAssertion( "HP:0000742") AnnotationAssertion(rdfs:label "Self-mutilation") SubClassOf( ) @@ -27376,11 +27369,11 @@ SubClassOf( ) Annotation( "PMID:16030444") "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.") AnnotationAssertion( "SNOMEDCT_US:277521002") AnnotationAssertion( "UMLS:C0456814") -AnnotationAssertion(Annotation( ) "Diminished motivation") -AnnotationAssertion(Annotation( ) "Lack of initiative") -AnnotationAssertion(Annotation( ) "Lack of motivation") -AnnotationAssertion(Annotation( ) "Lacking in initiative") -AnnotationAssertion(Annotation( ) "Lacks initiative") +AnnotationAssertion(Annotation( ) "Diminished motivation") +AnnotationAssertion(Annotation( ) "Lack of initiative") +AnnotationAssertion(Annotation( ) "Lack of motivation") +AnnotationAssertion(Annotation( ) "Lacking in initiative") +AnnotationAssertion(Annotation( ) "Lacks initiative") AnnotationAssertion( "HP:0000745") AnnotationAssertion(rdfs:label "Diminished motivation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27392,7 +27385,7 @@ AnnotationAssertion(Annotation( "MSH:D003702") AnnotationAssertion( "SNOMEDCT_US:2073000") AnnotationAssertion( "UMLS:C0011253") -AnnotationAssertion(Annotation( ) "Delusions") +AnnotationAssertion(Annotation( ) "Delusions") AnnotationAssertion( "HP:0000746") AnnotationAssertion(rdfs:label "Delusions") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27402,7 +27395,7 @@ SubClassOf( "SNOMEDCT_US:247985007") AnnotationAssertion( "UMLS:C0424304") -AnnotationAssertion(Annotation( ) "Inappropriate laughter") +AnnotationAssertion(Annotation( ) "Inappropriate laughter") AnnotationAssertion( "HP:0000748") AnnotationAssertion(rdfs:label "Inappropriate laughter") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27438,25 +27431,25 @@ AnnotationAssertion( "UMLS:C0233715") AnnotationAssertion( "UMLS:C0241210") AnnotationAssertion( "UMLS:C0454644") -AnnotationAssertion(Annotation( ) "Deficiency of speech development") -AnnotationAssertion(Annotation( ) "Delayed language development") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed speech") -AnnotationAssertion(Annotation( ) "Delayed speech acquisition") -AnnotationAssertion(Annotation( ) "Delayed speech and language development") -AnnotationAssertion(Annotation( ) "Delayed speech development") -AnnotationAssertion(Annotation( ) "Impaired speech and language development") -AnnotationAssertion(Annotation( ) "Impaired speech development") -AnnotationAssertion(Annotation( ) "Language delay") -AnnotationAssertion(Annotation( ) "Language delayed") -AnnotationAssertion(Annotation( ) "Language development deficit") -AnnotationAssertion(Annotation( ) "Late-onset speech development") -AnnotationAssertion(Annotation( ) "Poor language development") -AnnotationAssertion(Annotation( ) "Speech and language delay") -AnnotationAssertion(Annotation( ) "Speech and language difficulties") -AnnotationAssertion(Annotation( ) "Speech delay") -AnnotationAssertion(Annotation( ) Annotation( ) "Poor speech acquisition") -AnnotationAssertion(Annotation( ) Annotation( ) "Poor speech development") -AnnotationAssertion(Annotation( ) "Speech difficulties") +AnnotationAssertion(Annotation( ) "Deficiency of speech development") +AnnotationAssertion(Annotation( ) "Delayed language development") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed speech") +AnnotationAssertion(Annotation( ) "Delayed speech acquisition") +AnnotationAssertion(Annotation( ) "Delayed speech and language development") +AnnotationAssertion(Annotation( ) "Delayed speech development") +AnnotationAssertion(Annotation( ) "Impaired speech and language development") +AnnotationAssertion(Annotation( ) "Impaired speech development") +AnnotationAssertion(Annotation( ) "Language delay") +AnnotationAssertion(Annotation( ) "Language delayed") +AnnotationAssertion(Annotation( ) "Language development deficit") +AnnotationAssertion(Annotation( ) "Late-onset speech development") +AnnotationAssertion(Annotation( ) "Poor language development") +AnnotationAssertion(Annotation( ) "Speech and language delay") +AnnotationAssertion(Annotation( ) "Speech and language difficulties") +AnnotationAssertion(Annotation( ) "Speech delay") +AnnotationAssertion(Annotation( ) Annotation( ) "Poor speech acquisition") +AnnotationAssertion(Annotation( ) Annotation( ) "Poor speech development") +AnnotationAssertion(Annotation( ) "Speech difficulties") AnnotationAssertion( "HP:0000750") AnnotationAssertion(rdfs:comment "Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.") AnnotationAssertion(rdfs:label "Delayed speech and language development") @@ -27470,8 +27463,8 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:102943000") AnnotationAssertion( "SNOMEDCT_US:192073007") AnnotationAssertion( "UMLS:C0240735") -AnnotationAssertion(Annotation( ) "Personality change") -AnnotationAssertion(Annotation( ) "Personality changes") +AnnotationAssertion(Annotation( ) "Personality change") +AnnotationAssertion(Annotation( ) "Personality changes") AnnotationAssertion( "HP:0000751") AnnotationAssertion(rdfs:comment "This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations.") AnnotationAssertion(rdfs:label "Personality changes") @@ -27492,7 +27485,7 @@ AnnotationAssertion( "UMLS:C0424295") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Hyperactive behavior") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Hyperactive behaviour") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "More active than typical") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "More active than typical") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "hyperkinetic disorder") AnnotationAssertion( "HP:0000752") AnnotationAssertion(rdfs:label "Hyperactivity") @@ -27513,7 +27506,7 @@ AnnotationAssertion( "SNOMEDCT_US:247830007") AnnotationAssertion( "SNOMEDCT_US:70691001") AnnotationAssertion( "UMLS:C0001818") -AnnotationAssertion(Annotation( ) Annotation( ) "Fear of open spaces") +AnnotationAssertion(Annotation( ) Annotation( ) "Fear of open spaces") AnnotationAssertion( "HP:0000756") AnnotationAssertion(rdfs:label "Agoraphobia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27523,7 +27516,7 @@ SubClassOf( "SNOMEDCT_US:24340004") AnnotationAssertion( "UMLS:C0233824") -AnnotationAssertion(Annotation( ) "Lack of insight") +AnnotationAssertion(Annotation( ) "Lack of insight") AnnotationAssertion( "HP:0000757") AnnotationAssertion(rdfs:label "Lack of insight") SubClassOf( ) @@ -27536,8 +27529,8 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "UMLS:C4021798") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impaired use of nonverbal behaviors") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impaired use of nonverbal behaviours") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impaired use of nonverbal behaviors") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impaired use of nonverbal behaviours") AnnotationAssertion( "HP:0000758") AnnotationAssertion(rdfs:label "Abnormal nonverbal communicative behavior") SubClassOf( ) @@ -27551,7 +27544,7 @@ AnnotationAssertion( "SNOMEDCT_US:42658009") AnnotationAssertion( "UMLS:C0031117") AnnotationAssertion( "UMLS:C4025831") -AnnotationAssertion(Annotation( ) "Abnormal peripheral nervous system structure") +AnnotationAssertion(Annotation( ) "Abnormal peripheral nervous system structure") AnnotationAssertion( "Peripheral nervous system disease") AnnotationAssertion( "HP:0000759") AnnotationAssertion(rdfs:comment "The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.") @@ -27588,7 +27581,7 @@ AnnotationAssertion( "HP:0007142") AnnotationAssertion( "SNOMEDCT_US:95662005") AnnotationAssertion( "UMLS:C0151313") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Damage to nerves that sense feeling") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Damage to nerves that sense feeling") AnnotationAssertion( "Peripheral sensory neuropathy") AnnotationAssertion( "HP:0000763") AnnotationAssertion(rdfs:label "Sensory neuropathy") @@ -27612,7 +27605,7 @@ SubClassOf( ) "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).") AnnotationAssertion( "HP:0100655") AnnotationAssertion( "UMLS:C4021797") -AnnotationAssertion(Annotation( ) "Abnormality of the chest") +AnnotationAssertion(Annotation( ) "Abnormality of the chest") AnnotationAssertion( "Abnormality of the thorax") AnnotationAssertion( "Structural abnormality of the chest wall") AnnotationAssertion( "HP:0000765") @@ -27630,14 +27623,14 @@ AnnotationAssertion( "HP:0006630") AnnotationAssertion( "HP:0006708") AnnotationAssertion( "UMLS:C1860493") -AnnotationAssertion(Annotation( ) "Abnormality of the sternum") +AnnotationAssertion(Annotation( ) "Abnormality of the sternum") AnnotationAssertion( "Pectus carinatum or pectus excavatum") AnnotationAssertion( "Pectus deformities") AnnotationAssertion( "Pectus deformity") AnnotationAssertion( "Pectus excavatum or carinatum") AnnotationAssertion( "Pectus excavatum or pectus carinatum") AnnotationAssertion( "Pectus excavatum/carinatum") -AnnotationAssertion(Annotation( ) "Sternal anomalies") +AnnotationAssertion(Annotation( ) "Sternal anomalies") AnnotationAssertion( "HP:0000766") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal sternum morphology") @@ -27651,7 +27644,7 @@ AnnotationAssertion( "HP:0006617") AnnotationAssertion( "SNOMEDCT_US:391987005") AnnotationAssertion( "UMLS:C2051831") -AnnotationAssertion(Annotation( ) "Funnel chest") +AnnotationAssertion(Annotation( ) "Funnel chest") AnnotationAssertion( "HP:0000767") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pectus excavatum") @@ -27665,7 +27658,7 @@ AnnotationAssertion( "MSH:D066166") AnnotationAssertion( "SNOMEDCT_US:205101001") AnnotationAssertion( "UMLS:C0158731") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/pectus_carinatum") Annotation( ) "Pigeon chest") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/pectus_carinatum") Annotation( ) "Pigeon chest") AnnotationAssertion( "HP:0000768") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pectus carinatum") @@ -27676,7 +27669,7 @@ SubClassOf( ) "An abnormality of the breast.") AnnotationAssertion( "UMLS:C4025829") -AnnotationAssertion(Annotation( ) "Abnormality of the breast") +AnnotationAssertion(Annotation( ) "Abnormality of the breast") AnnotationAssertion( "HP:0000769") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the breast") @@ -27690,7 +27683,7 @@ AnnotationAssertion( "MSH:D006177") AnnotationAssertion( "SNOMEDCT_US:4754008") AnnotationAssertion( "UMLS:C0018418") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged male breast") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged male breast") AnnotationAssertion( "Gynaecomastia") AnnotationAssertion( "HP:0000771") AnnotationAssertion( ) @@ -27703,8 +27696,8 @@ SubClassOf( ) "An anomaly of the rib.") AnnotationAssertion( "HP:0006618") AnnotationAssertion( "UMLS:C1842083") -AnnotationAssertion(Annotation( ) "Abnormality of the ribs") -AnnotationAssertion(Annotation( ) "Rib abnormalities") +AnnotationAssertion(Annotation( ) "Abnormality of the ribs") +AnnotationAssertion(Annotation( ) "Rib abnormalities") AnnotationAssertion( "Rib anomalies") AnnotationAssertion( "HP:0000772") AnnotationAssertion( ) @@ -27722,7 +27715,7 @@ AnnotationAssertion( "UMLS:C0426817") AnnotationAssertion( "Hypoplastic ribs") AnnotationAssertion( "Rib hypoplasia") -AnnotationAssertion(Annotation( ) "Short ribs") +AnnotationAssertion(Annotation( ) "Short ribs") AnnotationAssertion( "HP:0000773") AnnotationAssertion(rdfs:label "Short ribs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27736,9 +27729,9 @@ AnnotationAssertion( "HP:0006588") AnnotationAssertion( "SNOMEDCT_US:249671009") AnnotationAssertion( "UMLS:C0426790") -AnnotationAssertion(Annotation( ) "Low chest circumference") -AnnotationAssertion(Annotation( ) "Narrow chest") -AnnotationAssertion(Annotation( ) "Narrow shoulders") +AnnotationAssertion(Annotation( ) "Low chest circumference") +AnnotationAssertion(Annotation( ) "Narrow chest") +AnnotationAssertion(Annotation( ) "Narrow shoulders") AnnotationAssertion( "Narrow thorax") AnnotationAssertion( "Reduced anterior-posterior chest diameter") AnnotationAssertion( "HP:0000774") @@ -27751,9 +27744,9 @@ SubClassOf( ) "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.") AnnotationAssertion( "HP:0005204") AnnotationAssertion( "UMLS:C1848873") -AnnotationAssertion(Annotation( ) "Abnormality of the diaphragm") -AnnotationAssertion(Annotation( ) "Diaphragm issues") -AnnotationAssertion(Annotation( ) "Diaphragmatic defect") +AnnotationAssertion(Annotation( ) "Abnormality of the diaphragm") +AnnotationAssertion(Annotation( ) "Diaphragm issues") +AnnotationAssertion(Annotation( ) "Diaphragmatic defect") AnnotationAssertion( "HP:0000775") AnnotationAssertion(rdfs:label "Abnormality of the diaphragm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27781,7 +27774,7 @@ AnnotationAssertion( "UMLS:C0262650") AnnotationAssertion( "UMLS:C0685891") AnnotationAssertion( "Abnormality of the thymus") -AnnotationAssertion(Annotation( ) "Abnormality of the thymus") +AnnotationAssertion(Annotation( ) "Abnormality of the thymus") AnnotationAssertion( "HP:0000777") AnnotationAssertion(rdfs:label "Abnormal thymus morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27794,7 +27787,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:93297002") AnnotationAssertion( "UMLS:C0685891") AnnotationAssertion( "UMLS:C4228227") -AnnotationAssertion(Annotation( ) Annotation( ) "Small thymus") +AnnotationAssertion(Annotation( ) Annotation( ) "Small thymus") AnnotationAssertion( "Thymic hypoplasia") AnnotationAssertion( "Thymus hypoplasia") AnnotationAssertion( "HP:0000778") @@ -27806,7 +27799,7 @@ SubClassOf( ) "Any abnormality of the scapula, also known as the shoulder blade.") AnnotationAssertion( "UMLS:C4025828") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the shoulder blade") AnnotationAssertion( "HP:0000782") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal scapula morphology") @@ -27827,7 +27820,7 @@ AnnotationAssertion(Annotation( "HP:0000102") AnnotationAssertion( "MSH:D053040") AnnotationAssertion( "UMLS:C0392525") -AnnotationAssertion(Annotation( ) "Kidney stones") +AnnotationAssertion(Annotation( ) "Kidney stones") AnnotationAssertion( "Renal calculi") AnnotationAssertion( "Renal stones") AnnotationAssertion( "HP:0000787") @@ -27841,7 +27834,7 @@ AnnotationAssertion( "SNOMEDCT_US:15296000") AnnotationAssertion( "SNOMEDCT_US:8619003") AnnotationAssertion( "UMLS:C0021359") -AnnotationAssertion(Annotation( ) "Infertility") +AnnotationAssertion(Annotation( ) "Infertility") AnnotationAssertion( "HP:0000789") AnnotationAssertion(rdfs:label "Infertility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27850,12 +27843,12 @@ SubClassOf( (Hematuria) AnnotationAssertion(Annotation( ) "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).") -AnnotationAssertion(Annotation( ) "High urine occult blood") +AnnotationAssertion(Annotation( ) "High urine occult blood") AnnotationAssertion( "MSH:D006417") AnnotationAssertion( "SNOMEDCT_US:34436003") AnnotationAssertion( "SNOMEDCT_US:53298000") AnnotationAssertion( "UMLS:C0018965") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood in urine") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood in urine") AnnotationAssertion( "HP:0000790") AnnotationAssertion(rdfs:label "Hematuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -27867,7 +27860,7 @@ SubClassOf( ) "The presence of uric acid-containing calculi (stones) in the kidneys.") AnnotationAssertion( "SNOMEDCT_US:267441009") AnnotationAssertion( "UMLS:C0403719") -AnnotationAssertion(Annotation( ) "Uric acid stones") +AnnotationAssertion(Annotation( ) "Uric acid stones") AnnotationAssertion( "Uric acid urolithiasis") AnnotationAssertion( "HP:0000791") AnnotationAssertion(rdfs:label "Uric acid nephrolithiasis") @@ -27902,7 +27895,7 @@ SubClassOf( ) "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.") AnnotationAssertion( "UMLS:C4025826") -AnnotationAssertion(Annotation( ) "Urethra issue") +AnnotationAssertion(Annotation( ) "Urethra issue") AnnotationAssertion( "HP:0000795") AnnotationAssertion(rdfs:label "Abnormality of the urethra") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -27923,7 +27916,7 @@ SubClassOf( ) "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.") AnnotationAssertion( "MSH:D009845") AnnotationAssertion( "UMLS:C0028960") -AnnotationAssertion(Annotation( ) Annotation( ) "Low sperm count") +AnnotationAssertion(Annotation( ) Annotation( ) "Low sperm count") AnnotationAssertion( "Oligospermia") AnnotationAssertion( "HP:0000798") AnnotationAssertion(rdfs:label "Oligozoospermia") @@ -27933,7 +27926,7 @@ SubClassOf( ) "Abnormal fat accumulation in the kidneys.") AnnotationAssertion( "UMLS:C4021796") -AnnotationAssertion(Annotation( ) "Fatty kidney") +AnnotationAssertion(Annotation( ) "Fatty kidney") AnnotationAssertion( "HP:0000799") AnnotationAssertion(rdfs:label "Renal steatosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -27956,8 +27949,8 @@ AnnotationAssertion(Annotation( "MSH:D007172") AnnotationAssertion( "SNOMEDCT_US:397803000") AnnotationAssertion( "UMLS:C0242350") -AnnotationAssertion(Annotation( ) "Difficulty getting a full erection") -AnnotationAssertion(Annotation( ) "Difficulty getting an erection") +AnnotationAssertion(Annotation( ) "Difficulty getting a full erection") +AnnotationAssertion(Annotation( ) "Difficulty getting an erection") AnnotationAssertion( "HP:0000802") AnnotationAssertion(rdfs:label "Impotence") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28028,7 +28021,7 @@ SubClassOf( (Abnormal external genitalia) AnnotationAssertion( "UMLS:C4025825") -AnnotationAssertion(Annotation( ) "Abnormal external genitalia") +AnnotationAssertion(Annotation( ) "Abnormal external genitalia") AnnotationAssertion( "HP:0000811") AnnotationAssertion(rdfs:label "Abnormal external genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28038,7 +28031,7 @@ SubClassOf( ) "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).") AnnotationAssertion( "UMLS:C4025824") -AnnotationAssertion(Annotation( ) "Abnormal internal genitalia") +AnnotationAssertion(Annotation( ) "Abnormal internal genitalia") AnnotationAssertion( "HP:0000812") AnnotationAssertion(rdfs:label "Abnormal internal genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28050,8 +28043,8 @@ AnnotationAssertion(Annotation( "HP:0008735") AnnotationAssertion( "SNOMEDCT_US:31401003") AnnotationAssertion( "UMLS:C0266387") -AnnotationAssertion(Annotation( ) Annotation( ) "Heart shaped uterus") -AnnotationAssertion(Annotation( ) Annotation( ) "Heart-shaped uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Heart shaped uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Heart-shaped uterus") AnnotationAssertion( "Uterus bicornis") AnnotationAssertion( "HP:0000813") AnnotationAssertion(rdfs:comment "Uterus with two horn-shaped branches.") @@ -28094,7 +28087,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "SNOMEDCT_US:412786000") AnnotationAssertion( "UMLS:C1445953") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Poor eye contact") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Poor eye contact") AnnotationAssertion( "HP:0000817") AnnotationAssertion(rdfs:comment "Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication.") AnnotationAssertion(rdfs:label "Reduced eye contact") @@ -28136,9 +28129,9 @@ AnnotationAssertion(Annotation( "MSH:D013959") AnnotationAssertion( "SNOMEDCT_US:14304000") AnnotationAssertion( "UMLS:C0040128") -AnnotationAssertion(Annotation( ) "Abnormality of the thyroid gland") -AnnotationAssertion(Annotation( ) "Thyroid abnormality") -AnnotationAssertion(Annotation( ) "Thyroid disease") +AnnotationAssertion(Annotation( ) "Abnormality of the thyroid gland") +AnnotationAssertion(Annotation( ) "Thyroid abnormality") +AnnotationAssertion(Annotation( ) "Thyroid disease") AnnotationAssertion( "HP:0000820") AnnotationAssertion(rdfs:label "Abnormality of the thyroid gland") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28153,7 +28146,7 @@ AnnotationAssertion( "SNOMEDCT_US:40930008") AnnotationAssertion( "UMLS:C0020676") AnnotationAssertion( "Low T4") -AnnotationAssertion(Annotation( ) Annotation( ) "Underactive thyroid") +AnnotationAssertion(Annotation( ) Annotation( ) "Underactive thyroid") AnnotationAssertion( "HP:0000821") AnnotationAssertion(rdfs:label "Hypothyroidism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28171,7 +28164,7 @@ AnnotationAssertion( "UMLS:C0497247") AnnotationAssertion( "Arterial hypertension") AnnotationAssertion( "Systemic hypertension") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood pressure") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood pressure") AnnotationAssertion( "HP:0000822") AnnotationAssertion(rdfs:comment "Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both.") AnnotationAssertion(rdfs:label "Hypertension") @@ -28188,10 +28181,10 @@ AnnotationAssertion( "SNOMEDCT_US:123526007") AnnotationAssertion( "SNOMEDCT_US:400003000") AnnotationAssertion( "UMLS:C0034012") -AnnotationAssertion(Annotation( ) "Delayed pubertal development") -AnnotationAssertion(Annotation( ) "Delayed pubertal growth") -AnnotationAssertion(Annotation( ) "Delayed puberty") -AnnotationAssertion(Annotation( ) Annotation( ) "Pubertal delay") +AnnotationAssertion(Annotation( ) "Delayed pubertal development") +AnnotationAssertion(Annotation( ) "Delayed pubertal growth") +AnnotationAssertion(Annotation( ) "Delayed puberty") +AnnotationAssertion(Annotation( ) Annotation( ) "Pubertal delay") AnnotationAssertion( "HP:0000823") AnnotationAssertion(rdfs:comment "The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.") AnnotationAssertion(rdfs:label "Delayed puberty") @@ -28207,7 +28200,7 @@ AnnotationAssertion( "HP:0008206") AnnotationAssertion( "SNOMEDCT_US:2109003") AnnotationAssertion( "UMLS:C3714796") -AnnotationAssertion(Annotation( ) "Growth hormone deficiency") +AnnotationAssertion(Annotation( ) "Growth hormone deficiency") AnnotationAssertion( "Somatotropin deficiency") AnnotationAssertion( "HP:0000824") AnnotationAssertion(rdfs:comment "GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults.") @@ -28235,8 +28228,8 @@ AnnotationAssertion( "SNOMEDCT_US:123527003") AnnotationAssertion( "SNOMEDCT_US:400179000") AnnotationAssertion( "UMLS:C0034013") -AnnotationAssertion(Annotation( ) Annotation( ) "Early onset of puberty") -AnnotationAssertion(Annotation( ) "Early puberty") +AnnotationAssertion(Annotation( ) Annotation( ) "Early onset of puberty") +AnnotationAssertion(Annotation( ) "Early puberty") AnnotationAssertion( "HP:0000826") AnnotationAssertion(rdfs:label "Precocious puberty") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28264,7 +28257,7 @@ AnnotationAssertion( "MSH:D007011") AnnotationAssertion( "SNOMEDCT_US:36976004") AnnotationAssertion( "UMLS:C0020626") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased parathyroid hormone secretion") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased parathyroid hormone secretion") AnnotationAssertion( "Low parathyroid hormone") AnnotationAssertion( "HP:0000829") AnnotationAssertion(rdfs:label "Hypoparathyroidism") @@ -28283,9 +28276,9 @@ SubClassOf( ) Annotation( "PMID:7706500") "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.") AnnotationAssertion( "UMLS:C0854110") -AnnotationAssertion(Annotation( ) "Insulin resistant diabetes") +AnnotationAssertion(Annotation( ) "Insulin resistant diabetes") AnnotationAssertion( "Insulin resistant diabetes mellitus") -AnnotationAssertion(Annotation( ) "Insulin-resistant diabetes") +AnnotationAssertion(Annotation( ) "Insulin-resistant diabetes") AnnotationAssertion( "HP:0000831") AnnotationAssertion(rdfs:label "Insulin-resistant diabetes mellitus") SubClassOf( ) @@ -28315,8 +28308,8 @@ AnnotationAssertion( "SNOMEDCT_US:30171000") AnnotationAssertion( "UMLS:C0001621") AnnotationAssertion( "UMLS:C4021794") -AnnotationAssertion(Annotation( ) "Adrenal abnormalities") -AnnotationAssertion(Annotation( ) "Adrenal gland disease") +AnnotationAssertion(Annotation( ) "Adrenal abnormalities") +AnnotationAssertion(Annotation( ) "Adrenal gland disease") AnnotationAssertion( "HP:0000834") AnnotationAssertion(rdfs:label "Abnormality of the adrenal glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28331,7 +28324,7 @@ AnnotationAssertion( "UMLS:C1846223") AnnotationAssertion( "Adrenal gland hypoplasia") AnnotationAssertion( "Hypoplastic adrenal glands") -AnnotationAssertion(Annotation( ) "Small adrenal glands") +AnnotationAssertion(Annotation( ) "Small adrenal glands") AnnotationAssertion( "Underdeveloped adrenal glands") AnnotationAssertion( "HP:0000835") AnnotationAssertion(rdfs:label "Adrenal hypoplasia") @@ -28345,7 +28338,7 @@ AnnotationAssertion( "MSH:D006980") AnnotationAssertion( "SNOMEDCT_US:34486009") AnnotationAssertion( "UMLS:C0020550") -AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986") Annotation( ) "Overactive thyroid") +AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986") Annotation( ) "Overactive thyroid") AnnotationAssertion( "HP:0000836") AnnotationAssertion(rdfs:label "Hyperthyroidism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28356,10 +28349,10 @@ SubClassOf( ) "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.") AnnotationAssertion( "HP:0030340") AnnotationAssertion( "UMLS:C1862265") -AnnotationAssertion(Annotation( ) "Elevated gonadotropins") -AnnotationAssertion(Annotation( ) "Elevated serum gonadotropins") -AnnotationAssertion(Annotation( ) "Gonadotropin excess") -AnnotationAssertion(Annotation( ) "Increased circulating gonadotropin level") +AnnotationAssertion(Annotation( ) "Elevated gonadotropins") +AnnotationAssertion(Annotation( ) "Elevated serum gonadotropins") +AnnotationAssertion(Annotation( ) "Gonadotropin excess") +AnnotationAssertion(Annotation( ) "Increased circulating gonadotropin level") AnnotationAssertion( "HP:0000837") AnnotationAssertion(rdfs:label "Increased circulating gonadotropin level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -28421,7 +28414,7 @@ AnnotationAssertion(Annotation( "MSH:D006961") AnnotationAssertion( "SNOMEDCT_US:66999008") AnnotationAssertion( "UMLS:C0020502") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood parathyroid hormone level") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood parathyroid hormone level") AnnotationAssertion( "HP:0000843") AnnotationAssertion(rdfs:label "Hyperparathyroidism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -28437,7 +28430,7 @@ AnnotationAssertion( "UMLS:C0001206") AnnotationAssertion( "UMLS:C0235986") AnnotationAssertion( "Elevated circulating somatotropin concentration") -AnnotationAssertion(Annotation( ) "Growth hormone excess") +AnnotationAssertion(Annotation( ) "Growth hormone excess") AnnotationAssertion( "Somatotropin excess") AnnotationAssertion( "HP:0000845") AnnotationAssertion(rdfs:comment "Disorder resulting from excess pituitary gland production of growth hormone (hGH).") @@ -28480,7 +28473,7 @@ SubClassOf( ) "An increased level of renin in the blood.") AnnotationAssertion( "HP:0003615") AnnotationAssertion( "UMLS:C0240783") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood renin level") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood renin level") AnnotationAssertion( "Elevated plasma renin") AnnotationAssertion( "Hyperreninemia") AnnotationAssertion( "Increased plasma renin") @@ -28506,7 +28499,7 @@ AnnotationAssertion( "SNOMEDCT_US:217710005") AnnotationAssertion( "UMLS:C0010308") AnnotationAssertion( "Hypothyroidism, congenital") -AnnotationAssertion(Annotation( ) Annotation( ) "Underactive thyroid gland from birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Underactive thyroid gland from birth") AnnotationAssertion( "HP:0000851") AnnotationAssertion(rdfs:label "Congenital hypothyroidism") SubClassOf( ) @@ -28527,7 +28520,7 @@ AnnotationAssertion(Annotation( "MSH:D006042") AnnotationAssertion( "SNOMEDCT_US:3716002") AnnotationAssertion( "UMLS:C0018021") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged thyroid gland in neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged thyroid gland in neck") AnnotationAssertion(Annotation( ) "Goitre") AnnotationAssertion( "Thyroid goiter") AnnotationAssertion(Annotation( ) "Thyroid goitre") @@ -28554,7 +28547,7 @@ AnnotationAssertion(Annotation( "MSH:D007333") AnnotationAssertion( "SNOMEDCT_US:48606007") AnnotationAssertion( "UMLS:C0021655") -AnnotationAssertion(Annotation( ) Annotation( ) "Body fails to respond to insulin") +AnnotationAssertion(Annotation( ) Annotation( ) "Body fails to respond to insulin") AnnotationAssertion( "HP:0000855") AnnotationAssertion(rdfs:label "Insulin resistance") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28575,7 +28568,7 @@ AnnotationAssertion( "Irregular menses") AnnotationAssertion( "Irregular periods") AnnotationAssertion( "Menstrual irregularities") -AnnotationAssertion(Annotation( ) "Menstrual irregularity") +AnnotationAssertion(Annotation( ) "Menstrual irregularity") AnnotationAssertion( "HP:0000858") AnnotationAssertion(rdfs:comment "Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles.") AnnotationAssertion(rdfs:label "Irregular menstruation") @@ -28590,9 +28583,9 @@ AnnotationAssertion( "MSH:D006929") AnnotationAssertion( "SNOMEDCT_US:88213004") AnnotationAssertion( "UMLS:C0020428") -AnnotationAssertion(Annotation( ) "Elevated plasma aldosterone") -AnnotationAssertion(Annotation( ) "Increased aldosterone") -AnnotationAssertion(Annotation( ) "Increased aldosterone production") +AnnotationAssertion(Annotation( ) "Elevated plasma aldosterone") +AnnotationAssertion(Annotation( ) "Increased aldosterone") +AnnotationAssertion(Annotation( ) "Increased aldosterone production") AnnotationAssertion( "Mineralocorticoid excess") AnnotationAssertion( "HP:0000859") AnnotationAssertion(rdfs:label "Hyperaldosteronism") @@ -28603,8 +28596,8 @@ SubClassOf( ) "Developmental hypoplasia of the parathyroid gland.") AnnotationAssertion( "UMLS:C1389851") -AnnotationAssertion(Annotation( ) Annotation( ) "Small parathyroid glands") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped parathyroid glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Small parathyroid glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped parathyroid glands") AnnotationAssertion( "HP:0000860") AnnotationAssertion(rdfs:label "Parathyroid hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28655,8 +28648,8 @@ SubClassOf( (Decreased fertility in females) AnnotationAssertion( "UMLS:C0151639") -AnnotationAssertion(Annotation( ) "Decreased fertility in females") -AnnotationAssertion(Annotation( ) "Reduced fertility in females") +AnnotationAssertion(Annotation( ) "Decreased fertility in females") +AnnotationAssertion(Annotation( ) "Reduced fertility in females") AnnotationAssertion( "HP:0000868") AnnotationAssertion(rdfs:label "Decreased fertility in females") SubClassOf( ) @@ -28665,7 +28658,7 @@ SubClassOf( "SNOMEDCT_US:86030004") AnnotationAssertion( "UMLS:C0232940") -AnnotationAssertion(Annotation( ) Annotation( ) "Previous menstrual periods stop") +AnnotationAssertion(Annotation( ) Annotation( ) "Previous menstrual periods stop") AnnotationAssertion( "HP:0000869") AnnotationAssertion(rdfs:label "Secondary amenorrhea") SubClassOf( ) @@ -28721,7 +28714,7 @@ SubClassOf( (Episodic hypertension) AnnotationAssertion( "UMLS:C1857175") -AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent high blood pressure") +AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent high blood pressure") AnnotationAssertion( "HP:0000875") AnnotationAssertion(rdfs:label "Episodic hypertension") SubClassOf( ) @@ -28732,7 +28725,7 @@ AnnotationAssertion(Annotation( "MSH:D009839") AnnotationAssertion( "SNOMEDCT_US:52073004") AnnotationAssertion( "UMLS:C0028949") -AnnotationAssertion(Annotation( ) Annotation( ) "Light or infrequent menstrual periods") +AnnotationAssertion(Annotation( ) Annotation( ) "Light or infrequent menstrual periods") AnnotationAssertion( "HP:0000876") AnnotationAssertion(rdfs:label "Oligomenorrhea") SubClassOf( ) @@ -28740,7 +28733,7 @@ SubClassOf( (Insulin-resistant diabetes mellitus at puberty) AnnotationAssertion( "UMLS:C1837792") -AnnotationAssertion(Annotation( ) "Insulin-resistant diabetes mellitus at puberty") +AnnotationAssertion(Annotation( ) "Insulin-resistant diabetes mellitus at puberty") AnnotationAssertion( "HP:0000877") AnnotationAssertion(rdfs:label "Insulin-resistant diabetes mellitus at puberty") SubClassOf( ) @@ -28749,7 +28742,7 @@ SubClassOf( ) "Presence of only 11 pairs of ribs.") AnnotationAssertion( "UMLS:C1839731") -AnnotationAssertion(Annotation( ) "11 pairs of ribs") +AnnotationAssertion(Annotation( ) "11 pairs of ribs") AnnotationAssertion( "HP:0000878") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Normally, there are 12 pairs of ribs.") @@ -28762,7 +28755,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:298724002") AnnotationAssertion( "UMLS:C0575497") AnnotationAssertion( "UMLS:C4020883") -AnnotationAssertion(Annotation( ) "Short sternum") +AnnotationAssertion(Annotation( ) "Short sternum") AnnotationAssertion( "Hypoplastic sternum") AnnotationAssertion( "HP:0000879") AnnotationAssertion( ) @@ -28781,7 +28774,7 @@ AnnotationAssertion( "Short scapulae") AnnotationAssertion( "Small scapula") AnnotationAssertion( "Small scapulae") -AnnotationAssertion(Annotation( ) Annotation( ) "Small shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Small shoulder blade") AnnotationAssertion( "HP:0000882") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hypoplastic scapulae") @@ -28793,8 +28786,8 @@ SubClassOf( ) "Ribs with a reduced diameter.") AnnotationAssertion( "SNOMEDCT_US:249697003") AnnotationAssertion( "UMLS:C0426818") -AnnotationAssertion(Annotation( ) "Slender ribs") -AnnotationAssertion(Annotation( ) "Thin ribs") +AnnotationAssertion(Annotation( ) "Slender ribs") +AnnotationAssertion(Annotation( ) "Thin ribs") AnnotationAssertion( "HP:0000883") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Thin ribs") @@ -28804,7 +28797,7 @@ SubClassOf( (Prominent sternum) AnnotationAssertion( "UMLS:C1846433") -AnnotationAssertion(Annotation( ) "Prominent sternum") +AnnotationAssertion(Annotation( ) "Prominent sternum") AnnotationAssertion( "Sternal protrusion") AnnotationAssertion( "HP:0000884") AnnotationAssertion(rdfs:label "Prominent sternum") @@ -28818,8 +28811,8 @@ AnnotationAssertion( "HP:0000950") AnnotationAssertion( "HP:0006667") AnnotationAssertion( "UMLS:C1848654") -AnnotationAssertion(Annotation( ) "Broad ribs") -AnnotationAssertion(Annotation( ) "Wide ribs") +AnnotationAssertion(Annotation( ) "Broad ribs") +AnnotationAssertion(Annotation( ) "Wide ribs") AnnotationAssertion( "HP:0000885") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Broad ribs") @@ -28830,7 +28823,7 @@ SubClassOf( ) "Malformation of the rib cage.") AnnotationAssertion( "UMLS:C1838659") -AnnotationAssertion(Annotation( ) "Deformed rib cage") +AnnotationAssertion(Annotation( ) "Deformed rib cage") AnnotationAssertion( "HP:0000886") AnnotationAssertion(rdfs:label "Deformed rib cage") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28843,9 +28836,9 @@ AnnotationAssertion( "SNOMEDCT_US:249704008") AnnotationAssertion( "UMLS:C0426826") AnnotationAssertion( "UMLS:C1865039") -AnnotationAssertion(Annotation( ) "Cupped ribs") -AnnotationAssertion(Annotation( ) "Rib cupping") -AnnotationAssertion(Annotation( ) "Rib flaring") +AnnotationAssertion(Annotation( ) "Cupped ribs") +AnnotationAssertion(Annotation( ) "Rib cupping") +AnnotationAssertion(Annotation( ) "Rib flaring") AnnotationAssertion( "HP:0000887") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Cupped ribs") @@ -28855,7 +28848,7 @@ SubClassOf( ) "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.") AnnotationAssertion( "UMLS:C3806510") -AnnotationAssertion(Annotation( ) "Horizontal ribs") +AnnotationAssertion(Annotation( ) "Horizontal ribs") AnnotationAssertion( "HP:0000888") AnnotationAssertion(rdfs:label "Horizontal ribs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28866,7 +28859,7 @@ SubClassOf( ) "Any abnormality of the clavicles (collar bones).") AnnotationAssertion( "UMLS:C4021792") AnnotationAssertion( "Abnormal clavicles") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal collarbone") AnnotationAssertion( "Abnormality of the clavicle") AnnotationAssertion( "HP:0000889") AnnotationAssertion( ) @@ -28881,7 +28874,7 @@ AnnotationAssertion( "SNOMEDCT_US:249687007") AnnotationAssertion( "UMLS:C0426808") AnnotationAssertion( "Elongated clavicles") -AnnotationAssertion(Annotation( ) Annotation( ) "Long collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Long collarbone") AnnotationAssertion( "HP:0000890") AnnotationAssertion(rdfs:label "Long clavicles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28901,8 +28894,8 @@ SubClassOf( ) "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.") AnnotationAssertion( "UMLS:C4721788") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft ribs") -AnnotationAssertion(Annotation( ) Annotation( ) "Split ribs") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft ribs") +AnnotationAssertion(Annotation( ) Annotation( ) "Split ribs") AnnotationAssertion( "HP:0000892") AnnotationAssertion(rdfs:label "Bifid ribs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28929,7 +28922,7 @@ AnnotationAssertion( "UMLS:C0426799") AnnotationAssertion( "Clavicular hypoplasia") AnnotationAssertion( "Hypoplastic clavicles") -AnnotationAssertion(Annotation( ) Annotation( ) "Short collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short collarbone") AnnotationAssertion( "Underdeveloped clavicles") AnnotationAssertion( "HP:0000894") AnnotationAssertion( ) @@ -28944,7 +28937,7 @@ AnnotationAssertion( "UMLS:C0426805") AnnotationAssertion( "Handlebar clavicle") AnnotationAssertion( "Hook-shaped clavicle") -AnnotationAssertion(Annotation( ) Annotation( ) "Hook-shaped collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Hook-shaped collarbone") AnnotationAssertion( "Hooked clavicle") AnnotationAssertion( "HP:0000895") AnnotationAssertion(rdfs:label "Lateral clavicle hook") @@ -28986,8 +28979,8 @@ SubClassOf( ) "Complete or partial merging of adjacent ribs.") AnnotationAssertion( "HP:0000880") AnnotationAssertion( "UMLS:C1844749") -AnnotationAssertion(Annotation( ) "Fused ribs") -AnnotationAssertion(Annotation( ) "Rib fusion") +AnnotationAssertion(Annotation( ) "Fused ribs") +AnnotationAssertion(Annotation( ) "Rib fusion") AnnotationAssertion( "HP:0000902") AnnotationAssertion(rdfs:label "Rib fusion") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -28999,7 +28992,7 @@ AnnotationAssertion(Annotation( "HP:0006656") AnnotationAssertion( "UMLS:C1854780") AnnotationAssertion( "Anterior flaring of ribs") -AnnotationAssertion(Annotation( ) "Flaring of rib cage") +AnnotationAssertion(Annotation( ) "Flaring of rib cage") AnnotationAssertion( "HP:0000904") AnnotationAssertion(rdfs:label "Flaring of rib cage") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29054,7 +29047,7 @@ AnnotationAssertion( "UMLS:C0152438") AnnotationAssertion( "Congenital, upward displacement of the scapula") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/sprengel%27s_deformity") "High scapula") -AnnotationAssertion(Annotation( ) Annotation( ) "High shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "High shoulder blade") AnnotationAssertion( "Sprengel deformity") AnnotationAssertion( "HP:0000912") AnnotationAssertion( ) @@ -29075,8 +29068,8 @@ SubClassOf( ) Annotation( "PMID:22368597") "A broad chest.") AnnotationAssertion( "UMLS:C1834124") AnnotationAssertion( "UMLS:C1839248") -AnnotationAssertion(Annotation( ) "Shield chest") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad chest") +AnnotationAssertion(Annotation( ) "Shield chest") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad chest") AnnotationAssertion( "HP:0000914") AnnotationAssertion(rdfs:comment "Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome.") AnnotationAssertion(rdfs:label "Shield chest") @@ -29097,7 +29090,7 @@ AnnotationAssertion(Annotation( "HP:0006651") AnnotationAssertion( "SNOMEDCT_US:249680009") AnnotationAssertion( "UMLS:C0426801") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad collarbone") AnnotationAssertion( "HP:0000916") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Broad clavicles") @@ -29158,9 +29151,9 @@ AnnotationAssertion( "HP:0006627") AnnotationAssertion( "SNOMEDCT_US:249695006") AnnotationAssertion( "UMLS:C0426816") -AnnotationAssertion(Annotation( ) "Absent ribs") -AnnotationAssertion(Annotation( ) "Decreased rib number") -AnnotationAssertion(Annotation( ) "Missing ribs") +AnnotationAssertion(Annotation( ) "Absent ribs") +AnnotationAssertion(Annotation( ) "Decreased rib number") +AnnotationAssertion(Annotation( ) "Missing ribs") AnnotationAssertion( "HP:0000921") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Missing ribs") @@ -29190,9 +29183,9 @@ SubClassOf( ) "An abnormality of the skeletal system.") AnnotationAssertion( "UMLS:C4021790") -AnnotationAssertion(Annotation( ) "Abnormality of the skeletal system") -AnnotationAssertion(Annotation( ) "Skeletal abnormalities") -AnnotationAssertion(Annotation( ) "Skeletal anomalies") +AnnotationAssertion(Annotation( ) "Abnormality of the skeletal system") +AnnotationAssertion(Annotation( ) "Skeletal abnormalities") +AnnotationAssertion(Annotation( ) "Skeletal anomalies") AnnotationAssertion( "HP:0000924") AnnotationAssertion(rdfs:label "Abnormality of the skeletal system") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29203,11 +29196,11 @@ SubClassOf( ) "Any abnormality of the vertebral column.") AnnotationAssertion( "UMLS:C4020882") AnnotationAssertion( "UMLS:C4021789") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal spine") -AnnotationAssertion(Annotation( ) "Abnormal vertebral column") -AnnotationAssertion(Annotation( ) "Abnormality of the spine") -AnnotationAssertion(Annotation( ) "Abnormality of the vertebral column") -AnnotationAssertion(Annotation( ) "Abnormality of the backbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal spine") +AnnotationAssertion(Annotation( ) "Abnormal vertebral column") +AnnotationAssertion(Annotation( ) "Abnormality of the spine") +AnnotationAssertion(Annotation( ) "Abnormality of the vertebral column") +AnnotationAssertion(Annotation( ) "Abnormality of the backbone") AnnotationAssertion( "HP:0000925") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the vertebral column") @@ -29227,7 +29220,7 @@ AnnotationAssertion( "HP:0008466") AnnotationAssertion( "UMLS:C1844704") AnnotationAssertion( "Flat vertebral bodies") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened vertebrae") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened vertebrae") AnnotationAssertion( "Flattened vertebral bodies") AnnotationAssertion( "HP:0000926") AnnotationAssertion( ) @@ -29239,7 +29232,7 @@ SubClassOf( ) "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.") AnnotationAssertion( "UMLS:C4025818") -AnnotationAssertion(Annotation( ) "Abnormality of skeletal maturation") +AnnotationAssertion(Annotation( ) "Abnormality of skeletal maturation") AnnotationAssertion( "HP:0000927") AnnotationAssertion(rdfs:label "Abnormality of skeletal maturation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -29249,8 +29242,8 @@ SubClassOf( ) "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.") AnnotationAssertion( "UMLS:C0235942") -AnnotationAssertion(Annotation( ) "Abnormality of the skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the skull bones") +AnnotationAssertion(Annotation( ) "Abnormality of the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the skull bones") AnnotationAssertion( "HP:0000929") AnnotationAssertion(rdfs:label "Abnormal skull morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29309,7 +29302,7 @@ AnnotationAssertion( "SNOMEDCT_US:239832006") AnnotationAssertion( "SNOMEDCT_US:239838005") AnnotationAssertion( "UMLS:C0553730") -AnnotationAssertion(Annotation( ) Annotation( ) "Calcium deposits in joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Calcium deposits in joints") AnnotationAssertion( "HP:0000934") AnnotationAssertion(rdfs:label "Chondrocalcinosis") SubClassOf( ) @@ -29366,9 +29359,9 @@ SubClassOf( ) "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.") AnnotationAssertion( "HP:0006504") AnnotationAssertion( "UMLS:C4021787") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of shaft of long bone") AnnotationAssertion( "Abnormality involving the diaphyses of the limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone of the limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone of the limbs") AnnotationAssertion( "Abnormality of the diaphyses") AnnotationAssertion( "Anomaly of the limb diaphyses") AnnotationAssertion( "Anomaly of the limb diaphyses morphology") @@ -29381,7 +29374,7 @@ SubClassOf( (Short diaphyses) AnnotationAssertion( "UMLS:C4025815") -AnnotationAssertion(Annotation( ) Annotation( ) "Short shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short shaft of long bone") AnnotationAssertion( "HP:0000941") AnnotationAssertion(rdfs:label "Short diaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29403,7 +29396,7 @@ SubClassOf( ) "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.") AnnotationAssertion( "HP:0006506") AnnotationAssertion( "UMLS:C4025814") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of a long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of a long bone") AnnotationAssertion( "HP:0000944") AnnotationAssertion(rdfs:label "Abnormal metaphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29415,7 +29408,7 @@ SubClassOf( ) "Underdevelopment of the ilium.") AnnotationAssertion( "HP:0003176") AnnotationAssertion( "HP:0003178") -AnnotationAssertion(Annotation( ) Annotation( ) "Small wings of the pelvic girdle") +AnnotationAssertion(Annotation( ) Annotation( ) "Small wings of the pelvic girdle") AnnotationAssertion( "UMLS:C1861218") AnnotationAssertion( "UMLS:C4280607") AnnotationAssertion( "Short and small iliac bones") @@ -29433,7 +29426,7 @@ AnnotationAssertion( "HP:0005075") AnnotationAssertion( "UMLS:C2749582") AnnotationAssertion( "Dumbbell widening of long bone metaphyses") -AnnotationAssertion(Annotation( ) "Dumbbell-shaped long bone") +AnnotationAssertion(Annotation( ) "Dumbbell-shaped long bone") AnnotationAssertion( "HP:0000947") AnnotationAssertion(rdfs:label "Dumbbell-shaped long bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29454,7 +29447,7 @@ AnnotationAssertion( "SNOMEDCT_US:95320005") AnnotationAssertion( "UMLS:C0037268") AnnotationAssertion( "UMLS:C0037274") -AnnotationAssertion(Annotation( ) "Abnormality of the skin") +AnnotationAssertion(Annotation( ) "Abnormality of the skin") AnnotationAssertion(Annotation( ) "Dermatopathy") AnnotationAssertion(Annotation( ) "Dermopathy") AnnotationAssertion( "Skin abnormality") @@ -29471,9 +29464,9 @@ AnnotationAssertion( "SNOMEDCT_US:18165001") AnnotationAssertion( "UMLS:C0022346") AnnotationAssertion(Annotation( ) "Icterus") -AnnotationAssertion(Annotation( ) "Jaundice") -AnnotationAssertion(Annotation( ) Annotation( ) "Yellow skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Yellowing of the skin") +AnnotationAssertion(Annotation( ) "Jaundice") +AnnotationAssertion(Annotation( ) Annotation( ) "Yellow skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Yellowing of the skin") AnnotationAssertion( "HP:0000952") AnnotationAssertion(rdfs:label "Jaundice") SubClassOf( ) @@ -29490,7 +29483,7 @@ AnnotationAssertion( "Cutaneous hyperpigmentation") AnnotationAssertion(Annotation( ) "Hyperpigmented lesion") AnnotationAssertion( "Increased skin pigmentation") -AnnotationAssertion(Annotation( ) "Patchy darkened skin") +AnnotationAssertion(Annotation( ) "Patchy darkened skin") AnnotationAssertion( "Skin hyperpigmentation") AnnotationAssertion( "Melanoderma") AnnotationAssertion( "Melanodermia") @@ -29530,7 +29523,7 @@ AnnotationAssertion( "SNOMEDCT_US:402599005") AnnotationAssertion( "SNOMEDCT_US:72129000") AnnotationAssertion( "UMLS:C0000889") -AnnotationAssertion(Annotation( ) Annotation( ) "Darkened and thickened skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Darkened and thickened skin") AnnotationAssertion(Annotation( ) "Keratosis nigricans") AnnotationAssertion( "HP:0000956") AnnotationAssertion( ) @@ -29543,8 +29536,8 @@ SubClassOf( ) "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.") AnnotationAssertion( "HP:0005601") AnnotationAssertion( "HP:0007454") -AnnotationAssertion(Annotation( ) Annotation( ) "Birthmark") -AnnotationAssertion(Annotation( ) "Flat light-brown mark on skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Birthmark") +AnnotationAssertion(Annotation( ) "Flat light-brown mark on skin") AnnotationAssertion( "MSH:D019080") AnnotationAssertion( "SNOMEDCT_US:201281002") AnnotationAssertion( "SNOMEDCT_US:51089004") @@ -29566,7 +29559,7 @@ AnnotationAssertion(Annotation(rdfs:label "Xerosis") "SNOMEDCT_US:16386004") AnnotationAssertion( "UMLS:C0151908") AnnotationAssertion( "UMLS:C0259817") -AnnotationAssertion(Annotation( ) "Dry skin") +AnnotationAssertion(Annotation( ) "Dry skin") AnnotationAssertion( "Xerosis") AnnotationAssertion( "HP:0000958") AnnotationAssertion( ) @@ -29581,7 +29574,7 @@ AnnotationAssertion( "SNOMEDCT_US:311897005") AnnotationAssertion( "UMLS:C0426848") AnnotationAssertion( "Pilonidal dimple") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/sacral_dimple") Annotation( ) "Spinal dimple") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/sacral_dimple") Annotation( ) "Spinal dimple") AnnotationAssertion( "HP:0000960") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Sacral dimple") @@ -29595,7 +29588,7 @@ AnnotationAssertion( "SNOMEDCT_US:119419001") AnnotationAssertion( "SNOMEDCT_US:3415004") AnnotationAssertion( "UMLS:C0010520") -AnnotationAssertion(Annotation( ) Annotation( ) "Blue discoloration of the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Blue discoloration of the skin") AnnotationAssertion( "HP:0000961") AnnotationAssertion(rdfs:label "Cyanosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29622,7 +29615,7 @@ AnnotationAssertion(Annotation( "HP:0001020") AnnotationAssertion( "SNOMEDCT_US:277797007") AnnotationAssertion( "UMLS:C0423757") -AnnotationAssertion(Annotation( ) "Thin skin") +AnnotationAssertion(Annotation( ) "Thin skin") AnnotationAssertion( "HP:0000963") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Thin skin") @@ -29637,7 +29630,7 @@ AnnotationAssertion( "SNOMEDCT_US:281104002") AnnotationAssertion( "SNOMEDCT_US:43116000") AnnotationAssertion( "UMLS:C0013595") -AnnotationAssertion(Annotation( ) "Eczema") +AnnotationAssertion(Annotation( ) "Eczema") AnnotationAssertion( "HP:0000964") AnnotationAssertion(rdfs:comment "Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis.") AnnotationAssertion(rdfs:label "Eczema") @@ -29663,11 +29656,11 @@ AnnotationAssertion(Annotation(rdfs:label "Hypohidrosis") "MSH:D007007") AnnotationAssertion( "SNOMEDCT_US:45004005") AnnotationAssertion( "UMLS:C0020620") -AnnotationAssertion(Annotation( ) "Decreased ability to sweat") -AnnotationAssertion(Annotation( ) "Decreased sweating") +AnnotationAssertion(Annotation( ) "Decreased ability to sweat") +AnnotationAssertion(Annotation( ) "Decreased sweating") AnnotationAssertion(Annotation( ) "Inadequate sweating") AnnotationAssertion( "Oligohidrosis") -AnnotationAssertion(Annotation( ) "Sweating, decreased") +AnnotationAssertion(Annotation( ) "Sweating, decreased") AnnotationAssertion( "HP:0000966") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hypohidrosis") @@ -29711,10 +29704,10 @@ AnnotationAssertion( "SNOMEDCT_US:79654002") AnnotationAssertion( "UMLS:C0013604") AnnotationAssertion(Annotation( ) "Dropsy") -AnnotationAssertion(Annotation( ) "Fluid retention") +AnnotationAssertion(Annotation( ) "Fluid retention") AnnotationAssertion( "Hydrops") AnnotationAssertion( "Oedema") -AnnotationAssertion(Annotation( ) "Water retention") +AnnotationAssertion(Annotation( ) "Water retention") AnnotationAssertion( "HP:0000969") AnnotationAssertion(rdfs:comment "Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability.") AnnotationAssertion(rdfs:label "Edema") @@ -29730,9 +29723,9 @@ AnnotationAssertion( "SNOMEDCT_US:39659002") AnnotationAssertion( "UMLS:C0003028") AnnotationAssertion( "Anhydrosis") -AnnotationAssertion(Annotation( ) Annotation( "http://www.medicalnewstoday.com/articles/266427.php") Annotation( ) "Lack of sweating") +AnnotationAssertion(Annotation( ) Annotation( "http://www.medicalnewstoday.com/articles/266427.php") Annotation( ) "Lack of sweating") AnnotationAssertion(Annotation( ) Annotation( "http://www.medicalnewstoday.com/articles/266427.php") "Sudomotor dysfunction") -AnnotationAssertion(Annotation( ) Annotation( "http://www.medicalnewstoday.com/articles/266427.php") Annotation( ) "Sweating dysfunction") +AnnotationAssertion(Annotation( ) Annotation( "http://www.medicalnewstoday.com/articles/266427.php") Annotation( ) "Sweating dysfunction") AnnotationAssertion( "HP:0000970") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Anhidrosis") @@ -29746,9 +29739,9 @@ AnnotationAssertion( "UMLS:C0038986") AnnotationAssertion( "UMLS:C0262643") AnnotationAssertion( "UMLS:C4020881") -AnnotationAssertion(Annotation( ) "Abnormality of the sweat gland") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormalities of sweating") -AnnotationAssertion(Annotation( ) "Sweat gland disease") +AnnotationAssertion(Annotation( ) "Abnormality of the sweat gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormalities of sweating") +AnnotationAssertion(Annotation( ) "Sweat gland disease") AnnotationAssertion( "HP:0000971") AnnotationAssertion(rdfs:label "Abnormal sweat gland morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29767,7 +29760,7 @@ AnnotationAssertion( "Palmoplantar keratosis") AnnotationAssertion( "Thick palms and soles") AnnotationAssertion( "Thickened palms and soles") -AnnotationAssertion(Annotation( ) "Thickening of the outer layer of the skin of the palms and soles") +AnnotationAssertion(Annotation( ) "Thickening of the outer layer of the skin of the palms and soles") AnnotationAssertion( "HP:0000972") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature.") @@ -29778,7 +29771,7 @@ SubClassOf( (Cutis laxa) AnnotationAssertion(Annotation( ) "Wrinkled, redundant, inelastic and sagging skin.") -AnnotationAssertion(Annotation( ) Annotation( ) "Hanging skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Hanging skin") AnnotationAssertion( "MSH:C531660") AnnotationAssertion( "MSH:D003483") AnnotationAssertion( "SNOMEDCT_US:58588007") @@ -29795,7 +29788,7 @@ AnnotationAssertion(Annotation( "Hypoelastic skin") AnnotationAssertion(Annotation( ) "Inelastic skin") AnnotationAssertion( "Lax skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Loose and inelastic skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Loose and inelastic skin") AnnotationAssertion( "Loose skin") AnnotationAssertion( "Skin laxity") AnnotationAssertion( "HP:0000973") @@ -29810,10 +29803,10 @@ AnnotationAssertion( "HP:0007493") AnnotationAssertion( "HP:0007578") AnnotationAssertion( "UMLS:C0241074") -AnnotationAssertion(Annotation( ) "Hyperelastic skin") -AnnotationAssertion(Annotation( ) "Skin hyperelasticity") +AnnotationAssertion(Annotation( ) "Hyperelastic skin") +AnnotationAssertion(Annotation( ) "Skin hyperelasticity") AnnotationAssertion( "Skin hyperextensibility") -AnnotationAssertion(Annotation( ) "Stretchable skin") +AnnotationAssertion(Annotation( ) "Stretchable skin") AnnotationAssertion( "HP:0000974") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds.") @@ -29840,12 +29833,12 @@ AnnotationAssertion( "UMLS:C0038990") AnnotationAssertion( "UMLS:C0700590") AnnotationAssertion( "Diaphoresis") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating") -AnnotationAssertion(Annotation( ) "Increased sweating") -AnnotationAssertion(Annotation( ) "Profuse sweating") -AnnotationAssertion(Annotation( ) "Sweating") -AnnotationAssertion(Annotation( ) "Sweating profusely") -AnnotationAssertion(Annotation( ) "Sweating, increased") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating") +AnnotationAssertion(Annotation( ) "Increased sweating") +AnnotationAssertion(Annotation( ) "Profuse sweating") +AnnotationAssertion(Annotation( ) "Sweating") +AnnotationAssertion(Annotation( ) "Sweating profusely") +AnnotationAssertion(Annotation( ) "Sweating, increased") AnnotationAssertion( "HP:0000975") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather.") @@ -29867,9 +29860,9 @@ SubClassOf( ) "Subjective impression of increased softness upon palpation of the skin.") AnnotationAssertion( "UMLS:C0241178") AnnotationAssertion( "UMLS:C1844592") -AnnotationAssertion(Annotation( ) "Soft skin") -AnnotationAssertion(Annotation( ) "Velvety skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Velvety skin texture") +AnnotationAssertion(Annotation( ) "Soft skin") +AnnotationAssertion(Annotation( ) "Velvety skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Velvety skin texture") AnnotationAssertion( "HP:0000977") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Soft skin") @@ -29890,10 +29883,10 @@ AnnotationAssertion( "UMLS:C0013491") AnnotationAssertion( "UMLS:C0423798") AnnotationAssertion( "Bruisability") -AnnotationAssertion(Annotation( ) Annotation( ) "Bruise easily") -AnnotationAssertion(Annotation( ) "Bruising susceptibility") -AnnotationAssertion(Annotation( ) "Easy bruisability") -AnnotationAssertion(Annotation( ) "Easy bruising") +AnnotationAssertion(Annotation( ) Annotation( ) "Bruise easily") +AnnotationAssertion(Annotation( ) "Bruising susceptibility") +AnnotationAssertion(Annotation( ) "Easy bruisability") +AnnotationAssertion(Annotation( ) "Easy bruising") AnnotationAssertion( "HP:0000978") AnnotationAssertion(rdfs:comment "An ecchymosis is defined as being larger than 1 cm in size.") AnnotationAssertion(rdfs:label "Bruising susceptibility") @@ -29903,13 +29896,13 @@ SubClassOf( (Purpura) AnnotationAssertion(Annotation( ) Annotation( "PMID:11515831") "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Blood spots") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Blood spots") AnnotationAssertion( "MSH:D011693") AnnotationAssertion( "SNOMEDCT_US:12393003") AnnotationAssertion( "SNOMEDCT_US:387778001") AnnotationAssertion( "SNOMEDCT_US:423902002") AnnotationAssertion( "UMLS:C0034150") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Red or purple spots on the skin") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Red or purple spots on the skin") AnnotationAssertion( "HP:0000979") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm).") @@ -29922,8 +29915,8 @@ AnnotationAssertion(Annotation( "MSH:D010167") AnnotationAssertion( "SNOMEDCT_US:398979000") AnnotationAssertion( "UMLS:C0030232") -AnnotationAssertion(Annotation( ) "Paleness") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Skin paleness") +AnnotationAssertion(Annotation( ) "Paleness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Skin paleness") AnnotationAssertion( "HP:0000980") AnnotationAssertion(rdfs:label "Pallor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29936,7 +29929,7 @@ AnnotationAssertion( "SNOMEDCT_US:706885006") AnnotationAssertion( "UMLS:C0022596") AnnotationAssertion( "Palmar and plantar keratoderma") -AnnotationAssertion(Annotation( ) "Thickening of palms and soles") +AnnotationAssertion(Annotation( ) "Thickening of palms and soles") AnnotationAssertion( "HP:0000982") AnnotationAssertion(rdfs:label "Palmoplantar keratoderma") SubClassOf( ) @@ -29945,8 +29938,8 @@ SubClassOf( ) "Atypically scarred skin .") AnnotationAssertion( "UMLS:C4021786") -AnnotationAssertion(Annotation( ) "Atypical scarring") -AnnotationAssertion(Annotation( ) "Atypical scarring of skin") +AnnotationAssertion(Annotation( ) "Atypical scarring") +AnnotationAssertion(Annotation( ) "Atypical scarring of skin") AnnotationAssertion( "HP:0000987") AnnotationAssertion(rdfs:label "Atypical scarring of skin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29956,13 +29949,13 @@ SubClassOf( (Skin rash) AnnotationAssertion(Annotation( ) "A red eruption of the skin.") -AnnotationAssertion(Annotation( ) "Rash") +AnnotationAssertion(Annotation( ) "Rash") AnnotationAssertion(Annotation(rdfs:label "Rash") "MEDDRA:10037844") AnnotationAssertion( "MSH:D005076") AnnotationAssertion( "SNOMEDCT_US:112625008") AnnotationAssertion( "SNOMEDCT_US:271807003") AnnotationAssertion( "UMLS:C0015230") -AnnotationAssertion(Annotation( ) "Skin rash") +AnnotationAssertion(Annotation( ) "Skin rash") AnnotationAssertion( "HP:0000988") AnnotationAssertion(rdfs:label "Skin rash") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -29977,9 +29970,9 @@ AnnotationAssertion( "SNOMEDCT_US:418363000") AnnotationAssertion( "SNOMEDCT_US:424492005") AnnotationAssertion( "UMLS:C0033774") -AnnotationAssertion(Annotation( ) "Itching") -AnnotationAssertion(Annotation( ) Annotation( ) "Itchy skin") -AnnotationAssertion(Annotation( ) "Skin itching") +AnnotationAssertion(Annotation( ) "Itching") +AnnotationAssertion(Annotation( ) Annotation( ) "Itchy skin") +AnnotationAssertion(Annotation( ) "Skin itching") AnnotationAssertion( "HP:0000989") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pruritus") @@ -29992,7 +29985,7 @@ AnnotationAssertion( "SNOMEDCT_US:63103006") AnnotationAssertion( "UMLS:C0043325") AnnotationAssertion( "Xanthomata") -AnnotationAssertion(Annotation( ) Annotation( ) "Yellow bumps of fatty deposits on skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Yellow bumps of fatty deposits on skin") AnnotationAssertion( "HP:0000991") AnnotationAssertion(rdfs:label "Xanthomatosis") SubClassOf( ) @@ -30006,12 +29999,12 @@ AnnotationAssertion( "MSH:D010787") AnnotationAssertion( "SNOMEDCT_US:90128006") AnnotationAssertion( "UMLS:C0349506") -AnnotationAssertion(Annotation( ) "Photosensitive skin") -AnnotationAssertion(Annotation( ) "Photosensitive skin rashes") -AnnotationAssertion(Annotation( ) "Photosensitivity") -AnnotationAssertion(Annotation( ) "Sensitivity to sunlight") -AnnotationAssertion(Annotation( ) "Skin photosensitivity") -AnnotationAssertion(Annotation( ) "Sun sensitivity") +AnnotationAssertion(Annotation( ) "Photosensitive skin") +AnnotationAssertion(Annotation( ) "Photosensitive skin rashes") +AnnotationAssertion(Annotation( ) "Photosensitivity") +AnnotationAssertion(Annotation( ) "Sensitivity to sunlight") +AnnotationAssertion(Annotation( ) "Skin photosensitivity") +AnnotationAssertion(Annotation( ) "Sun sensitivity") AnnotationAssertion( "HP:0000992") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Cutaneous photosensitivity") @@ -30030,13 +30023,13 @@ SubClassOf( (Melanocytic nevus) AnnotationAssertion(Annotation( ) "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.") -AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous mole") +AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous mole") AnnotationAssertion( "MSH:D009508") AnnotationAssertion( "SNOMEDCT_US:21119008") AnnotationAssertion( "SNOMEDCT_US:400096001") AnnotationAssertion( "UMLS:C0027962") AnnotationAssertion( "UMLS:C4280269") -AnnotationAssertion(Annotation( ) Annotation( ) "Beauty mark") +AnnotationAssertion(Annotation( ) Annotation( ) "Beauty mark") AnnotationAssertion( "Melanocytic naevus") AnnotationAssertion( "Melanocytic nevi") AnnotationAssertion( "Nevocellular nevi") @@ -30070,8 +30063,8 @@ SubClassOf( (Hypertrichosis) AnnotationAssertion(Annotation( ) "Hypertrichosis is increased hair growth that is abnormal in quantity or location.") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive hair growth") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Increased hair growth on body") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive hair growth") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Increased hair growth on body") AnnotationAssertion( "MSH:D006983") AnnotationAssertion( "SNOMEDCT_US:271607001") AnnotationAssertion( "SNOMEDCT_US:29966009") @@ -30087,7 +30080,7 @@ AnnotationAssertion(Annotation( "MSH:D011711") AnnotationAssertion( "SNOMEDCT_US:70759006") AnnotationAssertion( "UMLS:C0034212") -AnnotationAssertion(Annotation( ) Annotation( ) "Pus-filled lesion") +AnnotationAssertion(Annotation( ) Annotation( ) "Pus-filled lesion") AnnotationAssertion( "HP:0000999") AnnotationAssertion(rdfs:comment "Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions.") AnnotationAssertion(rdfs:label "Pyoderma") @@ -30099,15 +30092,15 @@ AnnotationAssertion(Annotation( "HP:0007582") AnnotationAssertion( "HP:0200045") AnnotationAssertion( "UMLS:C1260926") -AnnotationAssertion(Annotation( ) "Abnormal pigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin color") +AnnotationAssertion(Annotation( ) "Abnormal pigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin color") AnnotationAssertion(Annotation( ) "Abnormal skin colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin pigmentation") -AnnotationAssertion(Annotation( ) "Abnormality of pigmentation") -AnnotationAssertion(Annotation( ) "Abnormality of skin pigmentation") -AnnotationAssertion(Annotation( ) "Pigmentary changes") -AnnotationAssertion(Annotation( ) "Pigmentary skin changes") -AnnotationAssertion(Annotation( ) "Pigmentation anomaly") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin pigmentation") +AnnotationAssertion(Annotation( ) "Abnormality of pigmentation") +AnnotationAssertion(Annotation( ) "Abnormality of skin pigmentation") +AnnotationAssertion(Annotation( ) "Pigmentary changes") +AnnotationAssertion(Annotation( ) "Pigmentary skin changes") +AnnotationAssertion(Annotation( ) "Pigmentation anomaly") AnnotationAssertion( "HP:0001000") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of skin pigmentation") @@ -30117,7 +30110,7 @@ SubClassOf( (Abnormality of subcutaneous fat tissue) AnnotationAssertion( "UMLS:C4025813") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of fatty tissue below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of fatty tissue below the skin") AnnotationAssertion( "HP:0001001") AnnotationAssertion(rdfs:label "Abnormality of subcutaneous fat tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -30137,7 +30130,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:72100002") AnnotationAssertion( "UMLS:C0036651") AnnotationAssertion( "UMLS:C1328931") -AnnotationAssertion(Annotation( ) Annotation( ) "Liver spots") +AnnotationAssertion(Annotation( ) Annotation( ) "Liver spots") AnnotationAssertion( "HP:0001003") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands.") @@ -30157,7 +30150,7 @@ AnnotationAssertion( ) "Lymphatic obstruction") AnnotationAssertion( "Lymphoedema") AnnotationAssertion( "Onset of lymphedema around puberty") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Swelling caused by excess lymph fluid under skin") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Swelling caused by excess lymph fluid under skin") AnnotationAssertion( "HP:0001004") AnnotationAssertion(rdfs:label "Lymphedema") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -30184,7 +30177,7 @@ AnnotationAssertion(Annotation( "MSH:D006628") AnnotationAssertion( "SNOMEDCT_US:399939002") AnnotationAssertion( "UMLS:C0019572") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive hairiness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive hairiness") AnnotationAssertion( "HP:0001007") AnnotationAssertion(rdfs:label "Hirsutism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -30207,7 +30200,7 @@ AnnotationAssertion( "UMLS:C0039446") AnnotationAssertion( "UMLS:C1138421") AnnotationAssertion( "Telangiectases") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins") AnnotationAssertion( "HP:0001009") AnnotationAssertion(rdfs:label "Telangiectasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -30227,7 +30220,7 @@ AnnotationAssertion( "UMLS:C0162835") AnnotationAssertion( "Hypopigmentation") AnnotationAssertion( "Hypopigmented skin") -AnnotationAssertion(Annotation( ) "Patchy lightened skin") +AnnotationAssertion(Annotation( ) "Patchy lightened skin") AnnotationAssertion( "Skin hypopigmentation") AnnotationAssertion( "HP:0001010") AnnotationAssertion(rdfs:label "Hypopigmentation of the skin") @@ -30251,7 +30244,7 @@ AnnotationAssertion( "SNOMEDCT_US:93163002") AnnotationAssertion( "UMLS:C0023798") AnnotationAssertion( "UMLS:C0745730") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Multiple fatty lumps") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Multiple fatty lumps") AnnotationAssertion( "Lipomas") AnnotationAssertion( "Lipomatosis") AnnotationAssertion( "HP:0001012") @@ -30286,7 +30279,7 @@ SubClassOf( "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.") AnnotationAssertion( "UMLS:C1837785") AnnotationAssertion( "Marked subcutaneous veins") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent veins") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent veins") AnnotationAssertion( "HP:0001015") AnnotationAssertion(rdfs:comment "See Figure 4 of PMID:24456199") AnnotationAssertion(rdfs:label "Prominent superficial veins") @@ -30316,7 +30309,7 @@ SubClassOf( (Erythroderma) AnnotationAssertion(Annotation( ) "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.") -AnnotationAssertion(Annotation( ) Annotation( ) "Red scaly skin caused by inflammatory skin disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Red scaly skin caused by inflammatory skin disease") AnnotationAssertion( "MSH:D003873") AnnotationAssertion( "SNOMEDCT_US:200948000") AnnotationAssertion( "SNOMEDCT_US:396349005") @@ -30342,7 +30335,7 @@ AnnotationAssertion( "UMLS:C0001916") AnnotationAssertion( "UMLS:C0333913") AnnotationAssertion(Annotation( ) "Achromasia") -AnnotationAssertion(Annotation( ) "Albinism") +AnnotationAssertion(Annotation( ) "Albinism") AnnotationAssertion( "HP:0001022") AnnotationAssertion(rdfs:label "Albinism") SubClassOf( ) @@ -30364,7 +30357,7 @@ AnnotationAssertion( "SNOMEDCT_US:247472004") AnnotationAssertion( "SNOMEDCT_US:64305001") AnnotationAssertion( "UMLS:C0042109") -AnnotationAssertion(Annotation( ) "Hives") +AnnotationAssertion(Annotation( ) "Hives") AnnotationAssertion( "HP:0001025") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Urticaria") @@ -30373,7 +30366,7 @@ SubClassOf( (Penetrating foot ulcers) AnnotationAssertion( "UMLS:C4025809") -AnnotationAssertion(Annotation( ) "Penetrating foot ulcers") +AnnotationAssertion(Annotation( ) "Penetrating foot ulcers") AnnotationAssertion( "HP:0001026") AnnotationAssertion(rdfs:label "Penetrating foot ulcers") SubClassOf( ) @@ -30382,7 +30375,7 @@ SubClassOf( "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.") AnnotationAssertion( "UMLS:C1849043") -AnnotationAssertion(Annotation( ) "Soft, doughy skin") +AnnotationAssertion(Annotation( ) "Soft, doughy skin") AnnotationAssertion( "HP:0001027") AnnotationAssertion(rdfs:label "Soft, doughy skin") SubClassOf( ) @@ -30397,7 +30390,7 @@ AnnotationAssertion( "SNOMEDCT_US:253053003") AnnotationAssertion( "SNOMEDCT_US:400210000") AnnotationAssertion( "UMLS:C0018916") -AnnotationAssertion(Annotation( ) Annotation( ) "Strawberry mark") +AnnotationAssertion(Annotation( ) Annotation( ) "Strawberry mark") AnnotationAssertion( "Hemangiomata") AnnotationAssertion( "HP:0001028") AnnotationAssertion(rdfs:label "Hemangioma") @@ -30422,8 +30415,8 @@ AnnotationAssertion(Annotation( "MEDDRA:10040851") AnnotationAssertion( "SNOMEDCT_US:247427007") AnnotationAssertion( "UMLS:C0241181") -AnnotationAssertion(Annotation( ) "Fragile skin") -AnnotationAssertion(Annotation( ) "Skin fragility") +AnnotationAssertion(Annotation( ) "Fragile skin") +AnnotationAssertion(Annotation( ) "Skin fragility") AnnotationAssertion( "HP:0001030") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Fragile skin") @@ -30455,7 +30448,7 @@ SubClassOf( (Facial flushing after alcohol intake) AnnotationAssertion( "UMLS:C4025808") -AnnotationAssertion(Annotation( ) "Facial flushing after alcohol intake") +AnnotationAssertion(Annotation( ) "Facial flushing after alcohol intake") AnnotationAssertion( "HP:0001033") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Facial flushing after alcohol intake") @@ -30472,8 +30465,8 @@ AnnotationAssertion( "HP:0200033") AnnotationAssertion( "UMLS:C1842774") AnnotationAssertion( "Hyperpigmented macules") -AnnotationAssertion(Annotation( ) "Hyperpigmented spots") -AnnotationAssertion(Annotation( ) "Hyperpigmented skin patches") +AnnotationAssertion(Annotation( ) "Hyperpigmented spots") +AnnotationAssertion(Annotation( ) "Hyperpigmented skin patches") AnnotationAssertion( "HP:0001034") AnnotationAssertion(rdfs:label "Hypermelanotic macule") SubClassOf( ) @@ -30527,12 +30520,12 @@ AnnotationAssertion( "UMLS:C0035854") AnnotationAssertion( "UMLS:C0239488") AnnotationAssertion( "UMLS:C4020880") -AnnotationAssertion(Annotation( ) "Blushed cheeks") -AnnotationAssertion(Annotation( ) Annotation( ) "Blushing") -AnnotationAssertion(Annotation( ) "Red face") -AnnotationAssertion(Annotation( ) "Red in the face") -AnnotationAssertion(Annotation( ) Annotation( ) "Rosacea") -AnnotationAssertion(Annotation( ) "Ruddy face") +AnnotationAssertion(Annotation( ) "Blushed cheeks") +AnnotationAssertion(Annotation( ) Annotation( ) "Blushing") +AnnotationAssertion(Annotation( ) "Red face") +AnnotationAssertion(Annotation( ) "Red in the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Rosacea") +AnnotationAssertion(Annotation( ) "Ruddy face") AnnotationAssertion( "HP:0001041") AnnotationAssertion(rdfs:label "Facial erythema") SubClassOf( ) @@ -30547,7 +30540,7 @@ SubClassOf( (Prominent scalp veins) AnnotationAssertion( "UMLS:C1856542") -AnnotationAssertion(Annotation( ) "Prominent scalp veins") +AnnotationAssertion(Annotation( ) "Prominent scalp veins") AnnotationAssertion( "HP:0001043") AnnotationAssertion(rdfs:label "Prominent scalp veins") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -30560,7 +30553,7 @@ SubClassOf( "MSH:D014820") AnnotationAssertion( "SNOMEDCT_US:56727007") AnnotationAssertion( "UMLS:C0042900") -AnnotationAssertion(Annotation( ) Annotation( ) "Blotchy loss of skin color") +AnnotationAssertion(Annotation( ) Annotation( ) "Blotchy loss of skin color") AnnotationAssertion(Annotation( ) "Blotchy loss of skin colour") AnnotationAssertion( "HP:0001045") AnnotationAssertion(rdfs:label "Vitiligo") @@ -30571,8 +30564,8 @@ SubClassOf( ) "Jaundice that is sometimes present, sometimes not.") AnnotationAssertion( "UMLS:C4025805") AnnotationAssertion(Annotation( ) "Intermittent icterus") -AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent yellow skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent yellowing of skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent yellow skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent yellowing of skin") AnnotationAssertion( "HP:0001046") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Intermittent jaundice") @@ -30590,7 +30583,7 @@ AnnotationAssertion( "UMLS:C4280605") AnnotationAssertion( "Atopic dermatitis, chronic") AnnotationAssertion( "Dermatitis, Atopic") -AnnotationAssertion(Annotation( ) Annotation( ) "Baby eczema") +AnnotationAssertion(Annotation( ) Annotation( ) "Baby eczema") AnnotationAssertion( "HP:0001047") AnnotationAssertion(rdfs:comment "In infants, atopic dermatitis is known as infantile eczema.") AnnotationAssertion(rdfs:label "Atopic dermatitis") @@ -30608,7 +30601,7 @@ AnnotationAssertion( "UMLS:C0018920") AnnotationAssertion(Annotation( ) "Cavernous angioma") AnnotationAssertion( "Cavernous haemangioma") -AnnotationAssertion(Annotation( ) Annotation( ) "Collection of dilated blood vessels that forms mass") +AnnotationAssertion(Annotation( ) Annotation( ) "Collection of dilated blood vessels that forms mass") AnnotationAssertion( "HP:0001048") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Cavernous hemangioma") @@ -30656,7 +30649,7 @@ AnnotationAssertion( "SNOMEDCT_US:416377005") AnnotationAssertion( "UMLS:C0235752") AnnotationAssertion(Annotation( ) "Nevus simplex") -AnnotationAssertion(Annotation( ) Annotation( ) "port-wine stain") +AnnotationAssertion(Annotation( ) Annotation( ) "port-wine stain") AnnotationAssertion( "HP:0001052") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions.") @@ -30667,7 +30660,7 @@ SubClassOf( (Hypopigmented skin patches) AnnotationAssertion( "UMLS:C1836735") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Patchy loss of skin color") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Patchy loss of skin color") AnnotationAssertion(Annotation( ) "Patchy loss of skin colour") AnnotationAssertion( "HP:0001053") AnnotationAssertion(rdfs:label "Hypopigmented skin patches") @@ -30678,7 +30671,7 @@ SubClassOf( "UMLS:C1849677") AnnotationAssertion( "Multiple pigmented nevi") -AnnotationAssertion(Annotation( ) Annotation( ) "Numerous moles") +AnnotationAssertion(Annotation( ) Annotation( ) "Numerous moles") AnnotationAssertion( "HP:0001054") AnnotationAssertion(rdfs:label "Numerous nevi") SubClassOf( ) @@ -30706,7 +30699,7 @@ AnnotationAssertion( "SNOMEDCT_US:254683001") AnnotationAssertion( "SNOMEDCT_US:37719003") AnnotationAssertion( "UMLS:C0345996") -AnnotationAssertion(Annotation( ) Annotation( ) "Milk spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Milk spot") AnnotationAssertion(Annotation( ) "Millium cyst") AnnotationAssertion( "HP:0001056") AnnotationAssertion( ) @@ -30725,7 +30718,7 @@ AnnotationAssertion( "SNOMEDCT_US:74223008") AnnotationAssertion( "UMLS:C0265989") AnnotationAssertion( "UMLS:C0282160") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of part of skin at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of part of skin at birth") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/aplasia_cutis_congenita") "Congenital absence of skin") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/aplasia_cutis_congenita") "Cutis aplasia") AnnotationAssertion( "HP:0001057") @@ -30737,7 +30730,7 @@ SubClassOf( ) "A reduced ability to heal cutaneous wounds.") AnnotationAssertion( "UMLS:C1851789") -AnnotationAssertion(Annotation( ) "Poor wound healing") +AnnotationAssertion(Annotation( ) "Poor wound healing") AnnotationAssertion( "HP:0001058") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Poor wound healing") @@ -30768,11 +30761,11 @@ SubClassOf( ) "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).") AnnotationAssertion( "HP:0005596") -AnnotationAssertion(Annotation( ) "Breaking out") +AnnotationAssertion(Annotation( ) "Breaking out") AnnotationAssertion(Annotation(rdfs:label "Acne") "MEDDRA:10000496") AnnotationAssertion( "SNOMEDCT_US:11381005") AnnotationAssertion( "UMLS:C0702166") -AnnotationAssertion(Annotation( ) "Acne") +AnnotationAssertion(Annotation( ) "Acne") AnnotationAssertion( "HP:0001061") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule.") @@ -30786,7 +30779,7 @@ AnnotationAssertion( "SNOMEDCT_US:254818000") AnnotationAssertion( "SNOMEDCT_US:61814002") AnnotationAssertion( "UMLS:C0205748") -AnnotationAssertion(Annotation( ) Annotation( ) "Atypical mole") +AnnotationAssertion(Annotation( ) Annotation( ) "Atypical mole") AnnotationAssertion( "Dysplastic Nevus") AnnotationAssertion( "HP:0001062") AnnotationAssertion(rdfs:comment "Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance.") @@ -30798,7 +30791,7 @@ SubClassOf( "PMID:32644593") "Bluish discoloration of the skin of the hands or feet.") AnnotationAssertion( "SNOMEDCT_US:25003006") AnnotationAssertion( "UMLS:C0221347") -AnnotationAssertion(Annotation( ) Annotation( ) "Persistent blue color of hands or feet") +AnnotationAssertion(Annotation( ) Annotation( ) "Persistent blue color of hands or feet") AnnotationAssertion(Annotation( ) "Persistent blue colour of hands or feet") AnnotationAssertion( "HP:0001063") AnnotationAssertion(rdfs:comment "Cyanosis is caused by increased levels of deoxygenated hemoglobin.") @@ -30818,7 +30811,7 @@ AnnotationAssertion( "SNOMEDCT_US:47212006") AnnotationAssertion( "UMLS:C0152459") AnnotationAssertion( "Purplish striae") -AnnotationAssertion(Annotation( ) "Stretch marks") +AnnotationAssertion(Annotation( ) "Stretch marks") AnnotationAssertion( "Striae") AnnotationAssertion( "Striae atrophicae") AnnotationAssertion( "Striae cutis distensae") @@ -30853,7 +30846,7 @@ SubClassOf( ) "Intermittent episodes of abnormally increased perspiration.") AnnotationAssertion( "UMLS:C1857171") AnnotationAssertion( "Hyperhidrosis, episodic") -AnnotationAssertion(Annotation( ) Annotation( ) "Sporadic excessive sweating") +AnnotationAssertion(Annotation( ) Annotation( ) "Sporadic excessive sweating") AnnotationAssertion( "HP:0001069") AnnotationAssertion(rdfs:label "Episodic hyperhidrosis") SubClassOf( ) @@ -30864,7 +30857,7 @@ AnnotationAssertion(Annotation( "HP:0007584") AnnotationAssertion( "UMLS:C0860439") AnnotationAssertion( "UMLS:C4020879") -AnnotationAssertion(Annotation( ) Annotation( ) "Mottled skin coloring") +AnnotationAssertion(Annotation( ) Annotation( ) "Mottled skin coloring") AnnotationAssertion(Annotation( ) "Mottled skin colouring") AnnotationAssertion( "Stippled pigmentation") AnnotationAssertion( "HP:0001070") @@ -30894,9 +30887,9 @@ AnnotationAssertion( "UMLS:C0334008") AnnotationAssertion( "UMLS:C4020878") AnnotationAssertion( "Pachydermia") -AnnotationAssertion(Annotation( ) "Thick skin") -AnnotationAssertion(Annotation( ) "Thickened skin") -AnnotationAssertion(Annotation( ) "Diffusely thickened skin") +AnnotationAssertion(Annotation( ) "Thick skin") +AnnotationAssertion(Annotation( ) "Thickened skin") +AnnotationAssertion(Annotation( ) "Diffusely thickened skin") AnnotationAssertion( "HP:0001072") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Thickened skin") @@ -30907,8 +30900,8 @@ SubClassOf( ) "Thin (atrophic) and wide scars.") AnnotationAssertion( "UMLS:C1851828") -AnnotationAssertion(Annotation( ) "Cigarette paper scarring") -AnnotationAssertion(Annotation( ) "Cigarette-paper scars") +AnnotationAssertion(Annotation( ) "Cigarette paper scarring") +AnnotationAssertion(Annotation( ) "Cigarette-paper scars") AnnotationAssertion( "HP:0001073") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows.") @@ -30929,7 +30922,7 @@ AnnotationAssertion( "SNOMEDCT_US:239172000") AnnotationAssertion( "SNOMEDCT_US:409766009") AnnotationAssertion( "UMLS:C0162154") -AnnotationAssertion(Annotation( ) Annotation( ) "Sunken or indented skin due to damage") +AnnotationAssertion(Annotation( ) Annotation( ) "Sunken or indented skin due to damage") AnnotationAssertion( "Thin, atrophic scars") AnnotationAssertion( "HP:0001075") AnnotationAssertion( ) @@ -30964,7 +30957,7 @@ AnnotationAssertion(Annotation( "MSH:D002769") AnnotationAssertion( "SNOMEDCT_US:266474003") AnnotationAssertion( "UMLS:C0008350") -AnnotationAssertion(Annotation( ) "Gallstones") +AnnotationAssertion(Annotation( ) "Gallstones") AnnotationAssertion( "HP:0001081") AnnotationAssertion(rdfs:comment "Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones.") AnnotationAssertion(rdfs:label "Cholelithiasis") @@ -30976,7 +30969,7 @@ AnnotationAssertion(Annotation( "MSH:D002764") AnnotationAssertion( "SNOMEDCT_US:76581006") AnnotationAssertion( "UMLS:C0008325") -AnnotationAssertion(Annotation( ) Annotation( ) "Gallbladder inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Gallbladder inflammation") AnnotationAssertion( "HP:0001082") AnnotationAssertion(rdfs:label "Cholecystitis") SubClassOf( ) @@ -31061,7 +31054,7 @@ AnnotationAssertion( "UMLS:C1303007") AnnotationAssertion( "UMLS:C4280604") AnnotationAssertion( "Iris brushfield spots") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled iris") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled iris") AnnotationAssertion( "HP:0001088") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome).") @@ -31073,7 +31066,7 @@ SubClassOf( ) "Loss of iris tissue (atrophy)") AnnotationAssertion( "SNOMEDCT_US:95709007") AnnotationAssertion( "UMLS:C0423319") -AnnotationAssertion(Annotation( ) Annotation( ) "Iris degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Iris degeneration") AnnotationAssertion( "HP:0001089") AnnotationAssertion(rdfs:label "Iris atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -31087,11 +31080,11 @@ AnnotationAssertion( "UMLS:C0423221") AnnotationAssertion( "UMLS:C1855852") AnnotationAssertion( "UMLS:C4280603") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of eyes") -AnnotationAssertion(Annotation( ) "Large eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of eyes") +AnnotationAssertion(Annotation( ) "Large eyes") AnnotationAssertion( "Megalophthalmos") AnnotationAssertion(Annotation( ) "Increased size of palpebral fissures") -AnnotationAssertion(Annotation( ) Annotation( ) "Large eyeballs") +AnnotationAssertion(Annotation( ) Annotation( ) "Large eyeballs") AnnotationAssertion(Annotation( ) "Large of palpebral fissures") AnnotationAssertion( "HP:0001090") AnnotationAssertion(rdfs:comment "Note that Increased size of palpebral fissues is not a synonym of this term.") @@ -31177,10 +31170,10 @@ AnnotationAssertion( "UMLS:C0022575") AnnotationAssertion( "UMLS:C0043349") AnnotationAssertion( "UMLS:C2930821") -AnnotationAssertion(Annotation( ) Annotation( ) "Dry eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Dry eyes") AnnotationAssertion( "Keratitis sicca") AnnotationAssertion( "Xerophthalmia") -AnnotationAssertion(Annotation( ) "Dry eye syndrome") +AnnotationAssertion(Annotation( ) "Dry eye syndrome") AnnotationAssertion( "HP:0001097") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Keratoconjunctivitis sicca") @@ -31210,7 +31203,7 @@ AnnotationAssertion(Annotation( "MSH:C538115") AnnotationAssertion( "SNOMEDCT_US:247033008") AnnotationAssertion( "UMLS:C0423318") -AnnotationAssertion(Annotation( ) Annotation( ) "Different colored eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Different colored eyes") AnnotationAssertion(Annotation( ) "Different coloured eyes") AnnotationAssertion( "Heterochromia irides") AnnotationAssertion( "HP:0001100") @@ -31224,7 +31217,7 @@ AnnotationAssertion(Annotation( "MSH:D007500") AnnotationAssertion( "SNOMEDCT_US:65074000") AnnotationAssertion( "UMLS:C0022081") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of iris") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of iris") AnnotationAssertion( "HP:0001101") AnnotationAssertion(rdfs:label "Iritis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -31287,13 +31280,13 @@ SubClassOf( ) "Increased pigmentation of the skin in the region surrounding the orbit of the eye.") AnnotationAssertion( "UMLS:C1844606") -AnnotationAssertion(Annotation( ) Annotation( ) "Dark circles around the eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "Dark circles under the eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "Darkening around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Dark circles around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Dark circles under the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Darkening around the eyes") AnnotationAssertion(Annotation( ) "Idiopathic cutaneous hyperchromia at the orbital region") AnnotationAssertion(Annotation( ) "Infraorbital pigmentation") AnnotationAssertion(Annotation( ) "Periorbital melanosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Pigmentation around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Pigmentation around the eyes") AnnotationAssertion( "HP:0001106") AnnotationAssertion(rdfs:label "Periorbital hyperpigmentation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -31308,7 +31301,7 @@ AnnotationAssertion( "MSH:D016117") AnnotationAssertion( "SNOMEDCT_US:26399002") AnnotationAssertion( "UMLS:C0078917") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pigmentation in the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pigmentation in the eye") AnnotationAssertion( "Albinism, Ocular") AnnotationAssertion( "HP:0001107") AnnotationAssertion(rdfs:comment "Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.") @@ -31348,8 +31341,8 @@ AnnotationAssertion( "UMLS:C0302314") AnnotationAssertion( "UMLS:C4280601") AnnotationAssertion( "UMLS:C4280602") -AnnotationAssertion(Annotation( ) Annotation( ) "Fatty deposits in skin around the eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "Fatty deposits on eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Fatty deposits in skin around the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fatty deposits on eyelids") AnnotationAssertion(Annotation( ) "Xanthelasma palpebrarum") AnnotationAssertion(Annotation( ) "Xanthoma") AnnotationAssertion(Annotation( ) "Xanthelasma of eyelid") @@ -31385,7 +31378,7 @@ SubClassOf( (Sudden loss of visual acuity) AnnotationAssertion(Annotation( ) "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.") -AnnotationAssertion(Annotation( ) Annotation( ) "Sudden decrease in vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Sudden decrease in vision") AnnotationAssertion( "UMLS:C4025803") AnnotationAssertion( "UMLS:C4072828") AnnotationAssertion( "UMLS:C4280600") @@ -31435,7 +31428,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "SNOMEDCT_US:12184005") AnnotationAssertion( "UMLS:C3887875") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial loss of field of vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial loss of field of vision") AnnotationAssertion(Annotation( ) "Visual field defects") AnnotationAssertion( "HP:0001123") AnnotationAssertion(rdfs:label "Visual field defect") @@ -31472,7 +31465,7 @@ AnnotationAssertion(Annotation( "MSH:D058457") AnnotationAssertion( "SNOMEDCT_US:60332004") AnnotationAssertion( "UMLS:C0221259") -AnnotationAssertion(Annotation( ) Annotation( ) "Ingrown eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Ingrown eyelashes") AnnotationAssertion(Annotation( ) "Introversion of eyelashes") AnnotationAssertion( "Trichiasis of eyelid eyelashes") AnnotationAssertion( "HP:0001128") @@ -31484,7 +31477,7 @@ SubClassOf( (Large central visual field defect) AnnotationAssertion( "UMLS:C4025800") -AnnotationAssertion(Annotation( ) Annotation( ) "Large central loss of field of vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Large central loss of field of vision") AnnotationAssertion( "HP:0001129") AnnotationAssertion(rdfs:label "Large central visual field defect") SubClassOf( ) @@ -31508,7 +31501,7 @@ AnnotationAssertion(Annotation( "MSH:D007906") AnnotationAssertion( "SNOMEDCT_US:65814009") AnnotationAssertion( "UMLS:C0023316") -AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated lens") AnnotationAssertion( "HP:0001132") AnnotationAssertion(rdfs:comment "Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis).") AnnotationAssertion(rdfs:label "Lens subluxation") @@ -31526,7 +31519,7 @@ AnnotationAssertion( "Concentric narrowing of visual field") AnnotationAssertion( "Constricted visual field") AnnotationAssertion(Annotation( ) "Constricted visual fields") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited peripheral vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited peripheral vision") AnnotationAssertion( "Reduced peripheral vision") AnnotationAssertion( "Visual field constriction") AnnotationAssertion( "HP:0001133") @@ -31569,7 +31562,7 @@ SubClassOf( ) "Esotropia in which either eye may be used for fixation.") AnnotationAssertion( "SNOMEDCT_US:39837002") AnnotationAssertion( "UMLS:C0152205") -AnnotationAssertion(Annotation( ) Annotation( ) "Alternating cross eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Alternating cross eyes") AnnotationAssertion( "HP:0001137") AnnotationAssertion(rdfs:comment "Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time).") AnnotationAssertion(rdfs:label "Alternating esotropia") @@ -31580,7 +31573,7 @@ SubClassOf( "HP:0007806") AnnotationAssertion( "SNOMEDCT_US:82108004") AnnotationAssertion( "UMLS:C3887709") -AnnotationAssertion(Annotation( ) Annotation( ) "Damaged optic nerve") +AnnotationAssertion(Annotation( ) Annotation( ) "Damaged optic nerve") AnnotationAssertion( "HP:0001138") AnnotationAssertion(rdfs:label "Optic neuropathy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -31598,7 +31591,7 @@ SubClassOf( (Limbal dermoid) AnnotationAssertion(Annotation( ) "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).") -AnnotationAssertion(Annotation( ) Annotation( ) "Benign eye tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Benign eye tumor") AnnotationAssertion(Annotation( ) "Benign eye tumour") AnnotationAssertion( "SNOMEDCT_US:5131000119107") AnnotationAssertion( "SNOMEDCT_US:92097004") @@ -31622,12 +31615,12 @@ AnnotationAssertion( "HP:0008023") AnnotationAssertion( "SNOMEDCT_US:397541004") AnnotationAssertion( "UMLS:C1301509") -AnnotationAssertion(Annotation( ) "Marked vision impairment") +AnnotationAssertion(Annotation( ) "Marked vision impairment") AnnotationAssertion( "Severe reduction in visual acuity") AnnotationAssertion( "Severe vision loss") -AnnotationAssertion(Annotation( ) "Severe visual impairment") +AnnotationAssertion(Annotation( ) "Severe visual impairment") AnnotationAssertion( "Severe visual loss") -AnnotationAssertion(Annotation( ) "Severely impaired vision") +AnnotationAssertion(Annotation( ) "Severely impaired vision") AnnotationAssertion( "HP:0001141") AnnotationAssertion(rdfs:label "Severely reduced visual acuity") SubClassOf( ) @@ -31648,7 +31641,7 @@ SubClassOf( ) "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).") AnnotationAssertion( "SNOMEDCT_US:31021007") AnnotationAssertion( "UMLS:C0155285") -AnnotationAssertion(Annotation( ) Annotation( ) "Cyst of eye socket") +AnnotationAssertion(Annotation( ) Annotation( ) "Cyst of eye socket") AnnotationAssertion( "Orbital cysts") AnnotationAssertion( "HP:0001144") AnnotationAssertion(rdfs:label "Orbital cyst") @@ -31726,7 +31719,7 @@ SubClassOf( ) "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.") AnnotationAssertion( "SNOMEDCT_US:47054003") AnnotationAssertion( "UMLS:C0266411") -AnnotationAssertion(Annotation( ) Annotation( ) "Double vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Double vagina") AnnotationAssertion( "HP:0001153") AnnotationAssertion(rdfs:label "Septate vagina") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -31739,10 +31732,10 @@ AnnotationAssertion( "MSH:D006226") AnnotationAssertion( "SNOMEDCT_US:299033004") AnnotationAssertion( "UMLS:C0018564") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hands") -AnnotationAssertion(Annotation( ) "Abnormality of the hand") -AnnotationAssertion(Annotation( ) "Hand anomalies") -AnnotationAssertion(Annotation( ) "Hand deformities") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hands") +AnnotationAssertion(Annotation( ) "Abnormality of the hand") +AnnotationAssertion(Annotation( ) "Hand anomalies") +AnnotationAssertion(Annotation( ) "Hand deformities") AnnotationAssertion( "HP:0001155") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the hand") @@ -31764,7 +31757,7 @@ AnnotationAssertion( "SNOMEDCT_US:43476002") AnnotationAssertion( "UMLS:C0221357") AnnotationAssertion( "Brachydactyly syndrome") -AnnotationAssertion(Annotation( ) Annotation( ) "Short fingers or toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Short fingers or toes") AnnotationAssertion( "HP:0001156") AnnotationAssertion(rdfs:label "Brachydactyly") SubClassOf( ) @@ -31778,7 +31771,7 @@ AnnotationAssertion( "MSH:D013576") AnnotationAssertion( "SNOMEDCT_US:373413006") AnnotationAssertion( "UMLS:C0039075") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed fingers or toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed fingers or toes") AnnotationAssertion( "HP:0001159") AnnotationAssertion(rdfs:comment "Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip.") AnnotationAssertion(rdfs:label "Syndactyly") @@ -31791,7 +31784,7 @@ AnnotationAssertion(Annotation( "MEDDRA:10036064") AnnotationAssertion( "SNOMEDCT_US:81793007") AnnotationAssertion( "UMLS:C0158733") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra finger") AnnotationAssertion( "Finger polydactyly") AnnotationAssertion( "Polydactyly of the hand") AnnotationAssertion(Annotation( ) "Supernumerary finger") @@ -31810,9 +31803,9 @@ AnnotationAssertion( "HP:0009984") AnnotationAssertion( "SNOMEDCT_US:205131007") AnnotationAssertion( "UMLS:C0431904") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra pinky finger") AnnotationAssertion( "Polydactyly affecting the 5th finger") AnnotationAssertion( "Postaxial polydactyly of fingers") AnnotationAssertion( "Postaxial polydactyly of hand") @@ -31839,9 +31832,9 @@ AnnotationAssertion( "MSH:D054119") AnnotationAssertion( "SNOMEDCT_US:62250003") AnnotationAssertion( "UMLS:C0003706") -AnnotationAssertion(Annotation( ) "Long slender fingers") +AnnotationAssertion(Annotation( ) "Long slender fingers") AnnotationAssertion( "Long, slender fingers") -AnnotationAssertion(Annotation( ) "Spider fingers") +AnnotationAssertion(Annotation( ) "Spider fingers") AnnotationAssertion( "HP:0001166") AnnotationAssertion(rdfs:label "Arachnodactyly") SubClassOf( ) @@ -31852,8 +31845,8 @@ SubClassOf( ) "An anomaly of a finger.") AnnotationAssertion( "HP:0003035") AnnotationAssertion( "UMLS:C2674737") -AnnotationAssertion(Annotation( ) "Abnormalities of the fingers") -AnnotationAssertion(Annotation( ) "Abnormality of finger") +AnnotationAssertion(Annotation( ) "Abnormalities of the fingers") +AnnotationAssertion(Annotation( ) "Abnormality of finger") AnnotationAssertion( "HP:0001167") AnnotationAssertion(rdfs:label "Abnormal finger morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -31866,10 +31859,10 @@ AnnotationAssertion(Annotation( "HP:0001174") AnnotationAssertion( "SNOMEDCT_US:48251003") AnnotationAssertion( "UMLS:C0264142") -AnnotationAssertion(Annotation( ) "Broad hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad hands") -AnnotationAssertion(Annotation( ) "Broad palm") -AnnotationAssertion(Annotation( ) "Wide palm") +AnnotationAssertion(Annotation( ) "Broad hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad hands") +AnnotationAssertion(Annotation( ) "Broad palm") +AnnotationAssertion(Annotation( ) "Wide palm") AnnotationAssertion( "HP:0001169") AnnotationAssertion(rdfs:comment "Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ).") AnnotationAssertion(rdfs:label "Broad palm") @@ -31885,8 +31878,8 @@ AnnotationAssertion( "UMLS:C0221373") AnnotationAssertion( "Ectrodactyly of the hand") AnnotationAssertion( "Hand ectrodactyly") -AnnotationAssertion(Annotation( ) "Split hand") -AnnotationAssertion(Annotation( ) "Split-hand") +AnnotationAssertion(Annotation( ) "Split hand") +AnnotationAssertion(Annotation( ) "Split-hand") AnnotationAssertion( "HP:0001171") AnnotationAssertion(rdfs:label "Split hand") SubClassOf( ) @@ -31898,9 +31891,9 @@ AnnotationAssertion( "MSH:C536903") AnnotationAssertion( "SNOMEDCT_US:299130003") AnnotationAssertion( "UMLS:C0575897") -AnnotationAssertion(Annotation( ) "Abnormality of the thumb") -AnnotationAssertion(Annotation( ) "Abnormality of the thumbs") -AnnotationAssertion(Annotation( ) "Thumb deformity") +AnnotationAssertion(Annotation( ) "Abnormality of the thumb") +AnnotationAssertion(Annotation( ) "Abnormality of the thumbs") +AnnotationAssertion(Annotation( ) "Thumb deformity") AnnotationAssertion( "HP:0001172") AnnotationAssertion(rdfs:label "Abnormal thumb morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -31914,8 +31907,8 @@ AnnotationAssertion( "SNOMEDCT_US:249752003") AnnotationAssertion( "UMLS:C0426870") AnnotationAssertion( "Disproportionately large hands") -AnnotationAssertion(Annotation( ) "Large hands") -AnnotationAssertion(Annotation( ) "large hand") +AnnotationAssertion(Annotation( ) "Large hands") +AnnotationAssertion(Annotation( ) "large hand") AnnotationAssertion( "HP:0001176") AnnotationAssertion(rdfs:label "Large hands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -31932,7 +31925,7 @@ AnnotationAssertion( "SNOMEDCT_US:205135003") AnnotationAssertion( "SNOMEDCT_US:445216006") AnnotationAssertion( "UMLS:C1395852") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra thumb") AnnotationAssertion( "Polydactyly affecting the thumb") AnnotationAssertion( "Preaxial polydactyly of hands") AnnotationAssertion(Annotation( ) "Supernumerary thumb") @@ -31958,7 +31951,7 @@ SubClassOf( ) "A developmental defect resulting in the presence of fewer than the normal number of fingers.") AnnotationAssertion( "SNOMEDCT_US:71358006") AnnotationAssertion( "UMLS:C0728895") -AnnotationAssertion(Annotation( ) Annotation( ) "Hand has less than 5 fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Hand has less than 5 fingers") AnnotationAssertion( "HP:0001180") AnnotationAssertion(rdfs:label "Hand oligodactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -31971,7 +31964,7 @@ AnnotationAssertion(Annotation( "HP:0005646") AnnotationAssertion( "UMLS:C3554617") AnnotationAssertion( "Adducted thumbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Inward turned thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Inward turned thumb") AnnotationAssertion( "Thumb-in-palm deformity") AnnotationAssertion( "Thumb-in-palm pattern") AnnotationAssertion( "HP:0001181") @@ -31994,9 +31987,9 @@ AnnotationAssertion( "SNOMEDCT_US:249768009") AnnotationAssertion( "UMLS:C0426886") AnnotationAssertion( "Distally tapering fingers") -AnnotationAssertion(Annotation( ) "Tapered finger") -AnnotationAssertion(Annotation( ) "Tapered fingertips") -AnnotationAssertion(Annotation( ) "Tapering fingers") +AnnotationAssertion(Annotation( ) "Tapered finger") +AnnotationAssertion(Annotation( ) "Tapered fingertips") +AnnotationAssertion(Annotation( ) "Tapering fingers") AnnotationAssertion(Annotation( ) "Tapered fingers") AnnotationAssertion( "HP:0001182") AnnotationAssertion( ) @@ -32009,10 +32002,10 @@ SubClassOf( ) "The ability of the finger joints to move beyond their normal range of motion.") AnnotationAssertion( "HP:0006158") AnnotationAssertion( "UMLS:C1844577") -AnnotationAssertion(Annotation( ) "Finger joint hyperextensibility") -AnnotationAssertion(Annotation( ) "Hyperextensible digits") -AnnotationAssertion(Annotation( ) "Hyperextensible finger") -AnnotationAssertion(Annotation( ) "Hyperextensible fingers") +AnnotationAssertion(Annotation( ) "Finger joint hyperextensibility") +AnnotationAssertion(Annotation( ) "Hyperextensible digits") +AnnotationAssertion(Annotation( ) "Hyperextensible finger") +AnnotationAssertion(Annotation( ) "Hyperextensible fingers") AnnotationAssertion( "HP:0001187") AnnotationAssertion(rdfs:label "Hyperextensibility of the finger joints") SubClassOf( ) @@ -32022,8 +32015,8 @@ SubClassOf( ) Annotation( "PMID:10085502") Annotation( "PMID:16702456") "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.") AnnotationAssertion( "UMLS:C0239815") AnnotationAssertion( "Clenched hand") -AnnotationAssertion(Annotation( ) "Clenched hands") -AnnotationAssertion(Annotation( ) "Hand clenching") +AnnotationAssertion(Annotation( ) "Clenched hands") +AnnotationAssertion(Annotation( ) "Hand clenching") AnnotationAssertion( "HP:0001188") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately.") @@ -32033,7 +32026,7 @@ SubClassOf( (Abnormal carpal morphology) AnnotationAssertion(Annotation( ) "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wrist bones") AnnotationAssertion( "UMLS:C1840535") AnnotationAssertion( "Abnormal carpal bones") AnnotationAssertion( "Abnormality of the carpal bones") @@ -32058,7 +32051,7 @@ SubClassOf( ) "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).") AnnotationAssertion( "UMLS:C4025798") -AnnotationAssertion(Annotation( ) "Abnormalities of placenta or umbilical cord") +AnnotationAssertion(Annotation( ) "Abnormalities of placenta or umbilical cord") AnnotationAssertion( "HP:0001194") AnnotationAssertion(rdfs:label "Abnormalities of placenta or umbilical cord") SubClassOf( ) @@ -32071,7 +32064,7 @@ AnnotationAssertion( "UMLS:C1384670") AnnotationAssertion(Annotation( ) "2 vessel cord") AnnotationAssertion(Annotation( ) "2 vessel umbilical cord") -AnnotationAssertion(Annotation( ) Annotation( ) "Only one artery in umbilical cord instead of two") +AnnotationAssertion(Annotation( ) Annotation( ) "Only one artery in umbilical cord instead of two") AnnotationAssertion(Annotation( ) "Two vessel cord") AnnotationAssertion(Annotation( ) "Two vessel umbilical cord") AnnotationAssertion( "Two-vessel cord") @@ -32087,7 +32080,7 @@ SubClassOf( ) "Decreased length of the umbilical cord.") AnnotationAssertion( "SNOMEDCT_US:59795007") AnnotationAssertion( "UMLS:C0266786") -AnnotationAssertion(Annotation( ) "Short umbilical cord") +AnnotationAssertion(Annotation( ) "Short umbilical cord") AnnotationAssertion( "HP:0001196") AnnotationAssertion(rdfs:label "Short umbilical cord") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32097,7 +32090,7 @@ SubClassOf( ) "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.") AnnotationAssertion( "UMLS:C4025797") -AnnotationAssertion(Annotation( ) "Abnormality of prenatal development or birth") +AnnotationAssertion(Annotation( ) "Abnormality of prenatal development or birth") AnnotationAssertion( "HP:0001197") AnnotationAssertion(rdfs:comment "Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality.") AnnotationAssertion(rdfs:label "Abnormality of prenatal development or birth") @@ -32116,7 +32109,7 @@ AnnotationAssertion( "UMLS:C0241397") AnnotationAssertion( "Accessory phalanx of the thumb") AnnotationAssertion( "Digitalized thumb") -AnnotationAssertion(Annotation( ) "Finger-like thumb") +AnnotationAssertion(Annotation( ) "Finger-like thumb") AnnotationAssertion( "Triphalangeal thumbs") AnnotationAssertion( "Triphalangy of thumb") AnnotationAssertion( "HP:0001199") @@ -32133,7 +32126,7 @@ AnnotationAssertion( "HP:0009841") AnnotationAssertion( "HP:0009871") AnnotationAssertion( "UMLS:C1862158") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of hand") AnnotationAssertion( "Symphalangism affecting the distal phalanges of the hand") AnnotationAssertion( "Synostosis of distal phalanges") AnnotationAssertion( "Terminal symphalangism") @@ -32149,7 +32142,7 @@ SubClassOf( "An abnormal structure of the tip (end) of a finger.") AnnotationAssertion( "UMLS:C4025796") -AnnotationAssertion(Annotation( ) "Abnormality of the fingertips") +AnnotationAssertion(Annotation( ) "Abnormality of the fingertips") AnnotationAssertion( "HP:0001211") AnnotationAssertion(rdfs:label "Abnormal fingertip morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32163,8 +32156,8 @@ AnnotationAssertion( "Persistence of fingerpads") AnnotationAssertion( "Persistent fetal fingertip pads") AnnotationAssertion(Annotation( ) "Persistent foetal fingertip pads") -AnnotationAssertion(Annotation( ) "Prominent finger pads") -AnnotationAssertion(Annotation( ) "Prominent fingertip pads") +AnnotationAssertion(Annotation( ) "Prominent finger pads") +AnnotationAssertion(Annotation( ) "Prominent fingertip pads") AnnotationAssertion( "HP:0001212") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Prominent fingertip pads") @@ -32190,7 +32183,7 @@ AnnotationAssertion( "Delayed carpal bone age") AnnotationAssertion( "Delayed carpal ossification") AnnotationAssertion( "Delayed maturation of carpal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of wrist bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of wrist bone") AnnotationAssertion( "HP:0001216") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Delayed ossification of carpal bones") @@ -32204,7 +32197,7 @@ AnnotationAssertion( "HP:0005874") AnnotationAssertion( "SNOMEDCT_US:367004") AnnotationAssertion( "UMLS:C0149651") -AnnotationAssertion(Annotation( ) "Clubbing of fingers and toes") +AnnotationAssertion(Annotation( ) "Clubbing of fingers and toes") AnnotationAssertion( "Digital clubbing") AnnotationAssertion( "HP:0001217") AnnotationAssertion(rdfs:comment "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers).") @@ -32233,7 +32226,7 @@ SubClassOf( ) "Spoon-shaped, broad thumbs.") AnnotationAssertion( "UMLS:C0241395") -AnnotationAssertion(Annotation( ) Annotation( ) "Spoon shaped thumbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Spoon shaped thumbs") AnnotationAssertion( "HP:0001222") AnnotationAssertion(rdfs:label "Spatulate thumbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32250,7 +32243,7 @@ SubClassOf( (Wrist swelling) AnnotationAssertion( "UMLS:C0241760") -AnnotationAssertion(Annotation( ) "Wrist swelling") +AnnotationAssertion(Annotation( ) "Wrist swelling") AnnotationAssertion( "HP:0001225") AnnotationAssertion(rdfs:label "Wrist swelling") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32279,7 +32272,7 @@ AnnotationAssertion(Annotation( "HP:0006024") AnnotationAssertion( "HP:0006065") AnnotationAssertion( "UMLS:C1842229") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bones of hand") AnnotationAssertion( "Wide metacarpals") AnnotationAssertion( "HP:0001230") AnnotationAssertion( ) @@ -32291,8 +32284,8 @@ SubClassOf( ) "An abnormality of the fingernails.") AnnotationAssertion( "UMLS:C4021782") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fingernails") -AnnotationAssertion(Annotation( ) "Abnormality of the fingernails") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fingernails") +AnnotationAssertion(Annotation( ) "Abnormality of the fingernails") AnnotationAssertion( "HP:0001231") AnnotationAssertion(rdfs:label "Abnormal fingernail morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32318,7 +32311,7 @@ AnnotationAssertion( "UMLS:C0432055") AnnotationAssertion( "Syndactyly 2nd-3rd fingers") AnnotationAssertion( "Syndactyly, 2-3 finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-3rd fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-3rd fingers") AnnotationAssertion( "HP:0001233") AnnotationAssertion(rdfs:label "2-3 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32330,7 +32323,7 @@ AnnotationAssertion(Annotation( "HP:0040021") AnnotationAssertion( "UMLS:C1857269") AnnotationAssertion( "Abducted thumb") -AnnotationAssertion(Annotation( ) "Hitchhiker thumb") +AnnotationAssertion(Annotation( ) "Hitchhiker thumb") AnnotationAssertion( "HP:0001234") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The condition known as \"hitchhiker's thumb\" means, that the distal phalanx of the thumb, when the thumb is extended (as in a \"thumbs-up\"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending.") @@ -32343,10 +32336,10 @@ SubClassOf( "PMID:19125433") "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.") AnnotationAssertion( "UMLS:C1857482") -AnnotationAssertion(Annotation( ) "Narrow fingers") -AnnotationAssertion(Annotation( ) "Slender finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender fingers") -AnnotationAssertion(Annotation( ) "thin fingers") +AnnotationAssertion(Annotation( ) "Narrow fingers") +AnnotationAssertion(Annotation( ) "Slender finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender fingers") +AnnotationAssertion(Annotation( ) "thin fingers") AnnotationAssertion( "HP:0001238") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Slender finger") @@ -32439,16 +32432,16 @@ AnnotationAssertion( "UMLS:C1843367") AnnotationAssertion( "UMLS:C3714756") AnnotationAssertion( "UMLS:C4020876") -AnnotationAssertion(Annotation( ) "Intellectual disability") -AnnotationAssertion(Annotation( ) "Mental deficiency") -AnnotationAssertion(Annotation( ) "Mental retardation") -AnnotationAssertion(Annotation( ) "Mental retardation, nonspecific") -AnnotationAssertion(Annotation( ) "Mental-retardation") +AnnotationAssertion(Annotation( ) "Intellectual disability") +AnnotationAssertion(Annotation( ) "Mental deficiency") +AnnotationAssertion(Annotation( ) "Mental retardation") +AnnotationAssertion(Annotation( ) "Mental retardation, nonspecific") +AnnotationAssertion(Annotation( ) "Mental-retardation") AnnotationAssertion( "Nonprogressive intellectual disability") AnnotationAssertion( "Nonprogressive mental retardation") AnnotationAssertion( "Dull intelligence") -AnnotationAssertion(Annotation( ) "Low intelligence") -AnnotationAssertion(Annotation( ) "Poor school performance") +AnnotationAssertion(Annotation( ) "Low intelligence") +AnnotationAssertion(Annotation( ) "Poor school performance") AnnotationAssertion( "HP:0001249") AnnotationAssertion(rdfs:comment "This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).") AnnotationAssertion(rdfs:label "Intellectual disability") @@ -32488,8 +32481,8 @@ AnnotationAssertion( "UMLS:C0014544") AnnotationAssertion( "UMLS:C0036572") AnnotationAssertion( "Epileptic seizure") -AnnotationAssertion(Annotation( ) Annotation( ) "Seizures") -AnnotationAssertion(Annotation( ) "Epilepsy") +AnnotationAssertion(Annotation( ) Annotation( ) "Seizures") +AnnotationAssertion(Annotation( ) "Epilepsy") AnnotationAssertion( "HP:0001250") AnnotationAssertion(rdfs:comment "A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.") AnnotationAssertion(rdfs:label "Seizure") @@ -32520,8 +32513,8 @@ AnnotationAssertion( "SNOMEDCT_US:398151007") AnnotationAssertion( "SNOMEDCT_US:398152000") AnnotationAssertion( "UMLS:C0026827") -AnnotationAssertion(Annotation( ) "Low muscle tone") -AnnotationAssertion(Annotation( ) Annotation( ) "Low or weak muscle tone") +AnnotationAssertion(Annotation( ) "Low muscle tone") +AnnotationAssertion(Annotation( ) Annotation( ) "Low or weak muscle tone") AnnotationAssertion( "Muscle hypotonia") AnnotationAssertion( "Muscular hypotonia") AnnotationAssertion( "Central hypotonia") @@ -32538,7 +32531,7 @@ AnnotationAssertion(Annotation( "MSH:D053609") AnnotationAssertion( "SNOMEDCT_US:214264003") AnnotationAssertion( "UMLS:C0023380") -AnnotationAssertion(Annotation( ) "Lethargy") +AnnotationAssertion(Annotation( ) "Lethargy") AnnotationAssertion( "HP:0001254") AnnotationAssertion(rdfs:label "Lethargy") SubClassOf( ) @@ -32550,11 +32543,11 @@ AnnotationAssertion( "HP:0007119") AnnotationAssertion( "SNOMEDCT_US:86765009") AnnotationAssertion( "UMLS:C0026106") -AnnotationAssertion(Annotation( ) "Intellectual disability, mild") -AnnotationAssertion(Annotation( ) "Mental retardation, borderline-mild") -AnnotationAssertion(Annotation( ) "Mild and nonprogressive mental retardation") -AnnotationAssertion(Annotation( ) "Mild mental retardation") -AnnotationAssertion(Annotation( ) "Mental retardation, mild") +AnnotationAssertion(Annotation( ) "Intellectual disability, mild") +AnnotationAssertion(Annotation( ) "Mental retardation, borderline-mild") +AnnotationAssertion(Annotation( ) "Mild and nonprogressive mental retardation") +AnnotationAssertion(Annotation( ) "Mild mental retardation") +AnnotationAssertion(Annotation( ) "Mental retardation, mild") AnnotationAssertion( "HP:0001256") AnnotationAssertion(rdfs:label "Intellectual disability, mild") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32567,7 +32560,7 @@ AnnotationAssertion( "SNOMEDCT_US:221360009") AnnotationAssertion( "SNOMEDCT_US:397790002") AnnotationAssertion( "UMLS:C0026838") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary muscle stiffness, contraction, or spasm") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary muscle stiffness, contraction, or spasm") AnnotationAssertion( "Muscle spasticity") AnnotationAssertion( "Muscular spasticity") AnnotationAssertion( "HP:0001257") @@ -32598,7 +32591,7 @@ AnnotationAssertion(Annotation(rdfs:label "Coma, unspecified") "MSH:D003128") AnnotationAssertion( "SNOMEDCT_US:371632003") AnnotationAssertion( "UMLS:C0009421") -AnnotationAssertion(Annotation( ) "Coma") +AnnotationAssertion(Annotation( ) "Coma") AnnotationAssertion( "HP:0001259") AnnotationAssertion(rdfs:comment "Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem.") AnnotationAssertion(rdfs:label "Coma") @@ -32611,7 +32604,7 @@ AnnotationAssertion( "MSH:D004401") AnnotationAssertion( "SNOMEDCT_US:8011004") AnnotationAssertion( "UMLS:C0013362") -AnnotationAssertion(Annotation( ) "Difficulty articulating speech") +AnnotationAssertion(Annotation( ) "Difficulty articulating speech") AnnotationAssertion( "Dysarthric speech") AnnotationAssertion( "HP:0001260") AnnotationAssertion(rdfs:label "Dysarthria") @@ -32624,8 +32617,8 @@ AnnotationAssertion( "SNOMEDCT_US:271782001") AnnotationAssertion( "SNOMEDCT_US:79519003") AnnotationAssertion( "UMLS:C2830004") -AnnotationAssertion(Annotation( ) "Excessive daytime sleepiness") -AnnotationAssertion(Annotation( ) Annotation( ) "More than typical sleepiness during day") +AnnotationAssertion(Annotation( ) "Excessive daytime sleepiness") +AnnotationAssertion(Annotation( ) Annotation( ) "More than typical sleepiness during day") AnnotationAssertion( "HP:0001262") AnnotationAssertion(rdfs:label "Excessive daytime somnolence") SubClassOf( ) @@ -32702,8 +32695,8 @@ AnnotationAssertion(Annotation( "HP:0002467") AnnotationAssertion( "SNOMEDCT_US:405946002") AnnotationAssertion( "UMLS:C0700078") -AnnotationAssertion(Annotation( ) "Decreased reflex response") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Decreased reflexes") +AnnotationAssertion(Annotation( ) "Decreased reflex response") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Decreased reflexes") AnnotationAssertion( "HP:0001265") AnnotationAssertion(rdfs:label "Hyporeflexia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -32736,11 +32729,11 @@ AnnotationAssertion( "HP:0007298") AnnotationAssertion( "MSH:D060825") AnnotationAssertion( "UMLS:C0234985") -AnnotationAssertion(Annotation( ) "Cognitive decline") -AnnotationAssertion(Annotation( ) "Cognitive decline, progressive") -AnnotationAssertion(Annotation( ) "Intellectual deterioration") -AnnotationAssertion(Annotation( ) "Mental deterioration") -AnnotationAssertion(Annotation( ) "Progressive cognitive decline") +AnnotationAssertion(Annotation( ) "Cognitive decline") +AnnotationAssertion(Annotation( ) "Cognitive decline, progressive") +AnnotationAssertion(Annotation( ) "Intellectual deterioration") +AnnotationAssertion(Annotation( ) "Mental deterioration") +AnnotationAssertion(Annotation( ) "Progressive cognitive decline") AnnotationAssertion( "HP:0001268") AnnotationAssertion(rdfs:label "Mental deterioration") SubClassOf( ) @@ -32752,7 +32745,7 @@ AnnotationAssertion( "SNOMEDCT_US:127377003") AnnotationAssertion( "SNOMEDCT_US:20022000") AnnotationAssertion( "UMLS:C0018989") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Weakness of one side of body") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Weakness of one side of body") AnnotationAssertion( "HP:0001269") AnnotationAssertion(rdfs:label "Hemiparesis") SubClassOf( ) @@ -32797,7 +32790,7 @@ AnnotationAssertion( "SNOMEDCT_US:42658009") AnnotationAssertion( "UMLS:C0031117") AnnotationAssertion( "UMLS:C0152025") -AnnotationAssertion(Annotation( ) Annotation( ) "Peripheral nerve disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Peripheral nerve disease") AnnotationAssertion( "HP:0001271") AnnotationAssertion(rdfs:label "Polyneuropathy") SubClassOf( ) @@ -32814,7 +32807,7 @@ AnnotationAssertion( "UMLS:C0740279") AnnotationAssertion( "UMLS:C4020873") AnnotationAssertion( "Atrophic cerebellum") -AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of cerebellum") +AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of cerebellum") AnnotationAssertion( "Infratentorial atrophy") AnnotationAssertion( "HP:0001272") AnnotationAssertion(rdfs:comment "Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.") @@ -32865,7 +32858,7 @@ AnnotationAssertion( "UMLS:C0026826") AnnotationAssertion( "Hypertonicity") AnnotationAssertion( "Increased muscle tone") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Spasticity and rigidity of muscles") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Spasticity and rigidity of muscles") AnnotationAssertion( "Muscle hypertonia") AnnotationAssertion( "HP:0001276") AnnotationAssertion(rdfs:comment "Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.") @@ -32881,7 +32874,7 @@ AnnotationAssertion( "MSH:D007024") AnnotationAssertion( "SNOMEDCT_US:28651003") AnnotationAssertion( "UMLS:C0020651") -AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in blood pressure upon standing up") +AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in blood pressure upon standing up") AnnotationAssertion( "Postural hypotension") AnnotationAssertion( "HP:0001278") AnnotationAssertion(rdfs:label "Orthostatic hypotension") @@ -32898,7 +32891,7 @@ AnnotationAssertion( "SNOMEDCT_US:272030005") AnnotationAssertion( "SNOMEDCT_US:309585006") AnnotationAssertion( "UMLS:C0039070") -AnnotationAssertion(Annotation( ) "Fainting spell") +AnnotationAssertion(Annotation( ) "Fainting spell") AnnotationAssertion( "HP:0001279") AnnotationAssertion(rdfs:label "Syncope") SubClassOf( ) @@ -32909,7 +32902,7 @@ AnnotationAssertion( "MSH:D013746") AnnotationAssertion( "SNOMEDCT_US:10629009") AnnotationAssertion( "UMLS:C0039621") -AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent involuntary muscle spasm") +AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent involuntary muscle spasm") AnnotationAssertion( "HP:0001281") AnnotationAssertion(rdfs:label "Tetany") SubClassOf( ) @@ -32935,7 +32928,7 @@ SubClassOf( ) "Absence of neurologic reflexes such as the knee-jerk reaction.") AnnotationAssertion( "HP:0001314") -AnnotationAssertion(Annotation( ) "Absent reflexes") +AnnotationAssertion(Annotation( ) "Absent reflexes") AnnotationAssertion( "MSH:D012021") AnnotationAssertion( "SNOMEDCT_US:349006") AnnotationAssertion( "SNOMEDCT_US:37280007") @@ -32943,7 +32936,7 @@ AnnotationAssertion( "UMLS:C0241772") AnnotationAssertion( "UMLS:C0278124") AnnotationAssertion( "Absent deep tendon reflexes") -AnnotationAssertion(Annotation( ) "Absent tendon reflexes") +AnnotationAssertion(Annotation( ) "Absent tendon reflexes") AnnotationAssertion( "Deep tendon reflexes absent") AnnotationAssertion( "Loss of deep tendon reflexes") AnnotationAssertion( "HP:0001284") @@ -32981,12 +32974,12 @@ AnnotationAssertion(Annotation( "HP:0006953") AnnotationAssertion( "SNOMEDCT_US:22325002") AnnotationAssertion( "UMLS:C0575081") -AnnotationAssertion(Annotation( ) "Abnormal gait") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal walk") +AnnotationAssertion(Annotation( ) "Abnormal gait") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal walk") AnnotationAssertion( "Gait abnormalities") AnnotationAssertion( "Gait difficulties") AnnotationAssertion( "Gait disturbances") -AnnotationAssertion(Annotation( ) "Impaired gait") +AnnotationAssertion(Annotation( ) "Impaired gait") AnnotationAssertion( "HP:0001288") AnnotationAssertion(rdfs:comment "If possible, this term should not be used for new annotations. Rather, a more specific term should be sought.") AnnotationAssertion(rdfs:label "Gait disturbance") @@ -32999,10 +32992,10 @@ AnnotationAssertion( "MSH:D003221") AnnotationAssertion( "SNOMEDCT_US:286933003") AnnotationAssertion( "UMLS:C0009676") -AnnotationAssertion(Annotation( ) "Confusion") -AnnotationAssertion(Annotation( ) "Disorientation") -AnnotationAssertion(Annotation( ) "Easily confused") -AnnotationAssertion(Annotation( ) "Mental disorientation") +AnnotationAssertion(Annotation( ) "Confusion") +AnnotationAssertion(Annotation( ) "Disorientation") +AnnotationAssertion(Annotation( ) "Easily confused") +AnnotationAssertion(Annotation( ) "Mental disorientation") AnnotationAssertion( "HP:0001289") AnnotationAssertion(rdfs:label "Confusion") SubClassOf( ) @@ -33014,7 +33007,7 @@ AnnotationAssertion( ) "Generalised decreased muscle tone") AnnotationAssertion(Annotation( ) "Generalised hypotonia") AnnotationAssertion(Annotation( ) "Generalised muscular hypotonia") -AnnotationAssertion(Annotation( ) "Generalized decreased muscle tone") +AnnotationAssertion(Annotation( ) "Generalized decreased muscle tone") AnnotationAssertion( "Generalized muscular hypotonia") AnnotationAssertion(Annotation( ) "Hypotonia, generalised") AnnotationAssertion( "Hypotonia, generalized") @@ -33056,7 +33049,7 @@ AnnotationAssertion( "UMLS:C0038454") AnnotationAssertion( "Cerebral vascular events") AnnotationAssertion( "Cerebrovascular accident") -AnnotationAssertion(Annotation( ) "Stroke") +AnnotationAssertion(Annotation( ) "Stroke") AnnotationAssertion(Annotation( ) "Cerebrovascular accidents") AnnotationAssertion( "HP:0001297") AnnotationAssertion(rdfs:label "Stroke") @@ -33098,7 +33091,7 @@ AnnotationAssertion( "SNOMEDCT_US:23024003") AnnotationAssertion( "UMLS:C0266483") AnnotationAssertion( "Cerebral pachygyria") -AnnotationAssertion(Annotation( ) "Fewer and broader ridges in brain") +AnnotationAssertion(Annotation( ) "Fewer and broader ridges in brain") AnnotationAssertion( "HP:0001302") AnnotationAssertion(rdfs:label "Pachygyria") SubClassOf( ) @@ -33145,8 +33138,8 @@ AnnotationAssertion(Annotation( ) "Lingual twitching") AnnotationAssertion( "Tongue fasciculation") AnnotationAssertion( "Tongue fasciculations/fibrillations") -AnnotationAssertion(Annotation( ) "Tongue twitching") -AnnotationAssertion(Annotation( ) Annotation( ) "Twitching of the tongue") +AnnotationAssertion(Annotation( ) "Tongue twitching") +AnnotationAssertion(Annotation( ) Annotation( ) "Twitching of the tongue") AnnotationAssertion( "HP:0001308") AnnotationAssertion(rdfs:label "Tongue fasciculations") SubClassOf( ) @@ -33159,7 +33152,7 @@ AnnotationAssertion(Annotation( "MSH:D002524") AnnotationAssertion( "SNOMEDCT_US:32566006") AnnotationAssertion( "UMLS:C0234162") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of coordination of movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of coordination of movement") AnnotationAssertion( "Abnormal finger chase test") AnnotationAssertion( "Abnormal finger-nose-finger test") AnnotationAssertion( "HP:0001310") @@ -33216,10 +33209,10 @@ SubClassOf( ) Annotation( "PMID:27160001") "Any structural abnormality of the cerebellum.") AnnotationAssertion( "UMLS:C0742038") AnnotationAssertion( "UMLS:C1866129") -AnnotationAssertion(Annotation( ) "Abnormality of the cerebellum") -AnnotationAssertion(Annotation( ) "Cerebellar abnormalities") -AnnotationAssertion(Annotation( ) "Cerebellar abnormality") -AnnotationAssertion(Annotation( ) "Cerebellar anomaly") +AnnotationAssertion(Annotation( ) "Abnormality of the cerebellum") +AnnotationAssertion(Annotation( ) "Cerebellar abnormalities") +AnnotationAssertion(Annotation( ) "Cerebellar abnormality") +AnnotationAssertion(Annotation( ) "Cerebellar anomaly") AnnotationAssertion( "Cerebellar signs") AnnotationAssertion( "HP:0001317") AnnotationAssertion(rdfs:comment "A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors.") @@ -33237,7 +33230,7 @@ AnnotationAssertion( "UMLS:C2267233") AnnotationAssertion( "Hypotonia, in neonatal onset") AnnotationAssertion( "Hypotonia, neonatal") -AnnotationAssertion(Annotation( ) Annotation( ) "Low muscle tone, in neonatal onset") +AnnotationAssertion(Annotation( ) Annotation( ) "Low muscle tone, in neonatal onset") AnnotationAssertion( "Congenital hypotonia") AnnotationAssertion( "HP:0001319") AnnotationAssertion(rdfs:label "Neonatal hypotonia") @@ -33269,8 +33262,8 @@ AnnotationAssertion( "Congenital cerebellar hypoplasia") AnnotationAssertion( "Hypoplasia of cerebellum") AnnotationAssertion( "Hypoplastic cerebellum") -AnnotationAssertion(Annotation( ) Annotation( ) "Small cerebellum") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped cerebellum") +AnnotationAssertion(Annotation( ) Annotation( ) "Small cerebellum") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped cerebellum") AnnotationAssertion( "HP:0001321") AnnotationAssertion(rdfs:comment "By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments.") AnnotationAssertion(rdfs:label "Cerebellar hypoplasia") @@ -33294,8 +33287,8 @@ AnnotationAssertion( "MSH:D018908") AnnotationAssertion( "SNOMEDCT_US:26544005") AnnotationAssertion( "UMLS:C0151786") -AnnotationAssertion(Annotation( ) "Muscle weakness") -AnnotationAssertion(Annotation( ) "Muscular weakness") +AnnotationAssertion(Annotation( ) "Muscle weakness") +AnnotationAssertion(Annotation( ) "Muscular weakness") AnnotationAssertion( "HP:0001324") AnnotationAssertion(rdfs:comment "It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced.") AnnotationAssertion(rdfs:label "Muscle weakness") @@ -33306,7 +33299,7 @@ SubClassOf( "SNOMEDCT_US:267384006") AnnotationAssertion( "UMLS:C0020617") -AnnotationAssertion(Annotation( ) Annotation( ) "Coma caused by low blood sugar") +AnnotationAssertion(Annotation( ) Annotation( ) "Coma caused by low blood sugar") AnnotationAssertion( "Coma, hypoglycemic") AnnotationAssertion( "Hypoglycaemic coma") AnnotationAssertion( "Loss of consciousness due to hypoglycemia") @@ -33392,9 +33385,9 @@ SubClassOf( ) Annotation( "PMID:22412265") Annotation( "PMID:28945198") "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.") AnnotationAssertion( "SNOMEDCT_US:229247004") AnnotationAssertion( "UMLS:C0454455") -AnnotationAssertion(Annotation( ) "Hand mirror movements") -AnnotationAssertion(Annotation( ) "Mirror hand movements") -AnnotationAssertion(Annotation( ) "Mirror movements") +AnnotationAssertion(Annotation( ) "Hand mirror movements") +AnnotationAssertion(Annotation( ) "Mirror hand movements") +AnnotationAssertion(Annotation( ) "Mirror movements") AnnotationAssertion( "HP:0001335") AnnotationAssertion(rdfs:comment "Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice.") AnnotationAssertion(rdfs:label "Bimanual synkinesia") @@ -33405,7 +33398,7 @@ SubClassOf( ) Annotation( "PMID:20589866") "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.") AnnotationAssertion( "HP:0002535") AnnotationAssertion( "HP:0007087") -AnnotationAssertion(Annotation( ) "Jerking") +AnnotationAssertion(Annotation( ) "Jerking") AnnotationAssertion( "MSH:D009207") AnnotationAssertion( "SNOMEDCT_US:127324008") AnnotationAssertion( "SNOMEDCT_US:17450006") @@ -33427,8 +33420,8 @@ AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "SNOMEDCT_US:26079004") AnnotationAssertion( "UMLS:C0040822") -AnnotationAssertion(Annotation( ) "Tremor") -AnnotationAssertion(Annotation( ) Annotation( ) "Tremors") +AnnotationAssertion(Annotation( ) "Tremor") +AnnotationAssertion(Annotation( ) Annotation( ) "Tremors") AnnotationAssertion( "HP:0001337") AnnotationAssertion(rdfs:comment "Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching.") AnnotationAssertion(rdfs:label "Tremor") @@ -33466,7 +33459,7 @@ AnnotationAssertion( "SNOMEDCT_US:204036008") AnnotationAssertion( "UMLS:C0266463") AnnotationAssertion( "UMLS:C1879312") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Fewer or absent grooves in brain") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Fewer or absent grooves in brain") AnnotationAssertion( "HP:0001339") AnnotationAssertion(rdfs:comment "Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.") AnnotationAssertion(rdfs:label "Lissencephaly") @@ -33483,7 +33476,7 @@ SubClassOf( (Olfactory lobe agenesis) AnnotationAssertion( "UMLS:C1855331") -AnnotationAssertion(Annotation( ) "Olfactory lobe absence") +AnnotationAssertion(Annotation( ) "Olfactory lobe absence") AnnotationAssertion( "HP:0001341") AnnotationAssertion(rdfs:label "Olfactory lobe agenesis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33499,7 +33492,7 @@ AnnotationAssertion( "SNOMEDCT_US:274100004") AnnotationAssertion( "UMLS:C0553692") AnnotationAssertion( "UMLS:C2937358") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding in brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding in brain") AnnotationAssertion(Annotation( ) "Cerebral haemorrhage") AnnotationAssertion(Annotation( ) "Intracerebral haemorrhage") AnnotationAssertion( "Intracerebral hemorrhage") @@ -33528,12 +33521,12 @@ AnnotationAssertion( "HP:0006798") AnnotationAssertion( "UMLS:C0746940") AnnotationAssertion( "UMLS:C1854882") -AnnotationAssertion(Annotation( ) "Absent speech development") -AnnotationAssertion(Annotation( ) "Lack of language development") -AnnotationAssertion(Annotation( ) "Lack of speech") -AnnotationAssertion(Annotation( ) "No speech development") -AnnotationAssertion(Annotation( ) "No speech or language development") -AnnotationAssertion(Annotation( ) Annotation( ) "Nonverbal") +AnnotationAssertion(Annotation( ) "Absent speech development") +AnnotationAssertion(Annotation( ) "Lack of language development") +AnnotationAssertion(Annotation( ) "Lack of speech") +AnnotationAssertion(Annotation( ) "No speech development") +AnnotationAssertion(Annotation( ) "No speech or language development") +AnnotationAssertion(Annotation( ) Annotation( ) "Nonverbal") AnnotationAssertion( "HP:0001344") AnnotationAssertion(rdfs:comment "This term should not be used in very young children.") AnnotationAssertion(rdfs:label "Absent speech") @@ -33558,7 +33551,7 @@ AnnotationAssertion( "SNOMEDCT_US:86854008") AnnotationAssertion( "UMLS:C0151889") AnnotationAssertion( "Increased deep tendon reflexes") -AnnotationAssertion(Annotation( ) "Increased reflexes") +AnnotationAssertion(Annotation( ) "Increased reflexes") AnnotationAssertion( "HP:0001347") AnnotationAssertion(rdfs:comment "Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less.") AnnotationAssertion(rdfs:label "Hyperreflexia") @@ -33592,7 +33585,7 @@ SubClassOf( ) "Abnormal coordination of muscles involved in speech.") AnnotationAssertion( "SNOMEDCT_US:289195008") AnnotationAssertion( "UMLS:C0234518") -AnnotationAssertion(Annotation( ) "Slurred speech") +AnnotationAssertion(Annotation( ) "Slurred speech") AnnotationAssertion( "HP:0001350") AnnotationAssertion(rdfs:label "Slurred speech") SubClassOf( ) @@ -33609,7 +33602,7 @@ SubClassOf( (Megalencephaly) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:28658095") Annotation( "PMID:29594439") "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged brain") AnnotationAssertion( "MSH:D058627") AnnotationAssertion( "SNOMEDCT_US:19410003") AnnotationAssertion( "UMLS:C0221355") @@ -33624,10 +33617,10 @@ SubClassOf( "PMID:19125436") "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.") AnnotationAssertion( "HP:0001121") AnnotationAssertion(Annotation( ) "Asymmetry of the posterior cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the posterior head") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the posterior skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the posterior head") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the posterior skull") AnnotationAssertion(Annotation( ) "Flat head") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid shaped head") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid shaped head") AnnotationAssertion( "MSH:D049068") AnnotationAssertion( "MSH:D059041") AnnotationAssertion( "SNOMEDCT_US:21850008") @@ -33638,14 +33631,14 @@ AnnotationAssertion( "UMLS:C4280597") AnnotationAssertion( "UMLS:C4280598") AnnotationAssertion( "UMLS:C4280807") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat head syndrome") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat head syndrome") AnnotationAssertion(Annotation( ) "Flattening of cranial vault") AnnotationAssertion(Annotation( ) "Flattening of cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of skull") AnnotationAssertion(Annotation( ) "Rhomboid shaped cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid shaped skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid shaped skull") AnnotationAssertion(Annotation( ) "Deformational plagiocephaly") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of head") AnnotationAssertion(Annotation( ) "Positional plagiocephaly") AnnotationAssertion( "HP:0001357") AnnotationAssertion( ) @@ -33681,8 +33674,8 @@ AnnotationAssertion(Annotation( "UMLS:C4025787") AnnotationAssertion( "UMLS:C4280595") AnnotationAssertion( "UMLS:C4280596") -AnnotationAssertion(Annotation( ) Annotation( ) "Cranial defect") -AnnotationAssertion(Annotation( ) "Skull defect") +AnnotationAssertion(Annotation( ) Annotation( ) "Cranial defect") +AnnotationAssertion(Annotation( ) "Skull defect") AnnotationAssertion(Annotation( ) "Calvarial defect") AnnotationAssertion( "HP:0001362") AnnotationAssertion(rdfs:label "Calvarial skull defect") @@ -33698,7 +33691,7 @@ AnnotationAssertion( "HP:0005457") AnnotationAssertion( "HP:0005467") AnnotationAssertion( "HP:0008492") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/Craniosynostosis") Annotation( ) "Deformity of the skull") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/Craniosynostosis") Annotation( ) "Deformity of the skull") AnnotationAssertion( "Fyler:4336") AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:57219006") @@ -33726,10 +33719,10 @@ AnnotationAssertion( "SNOMEDCT_US:399269003") AnnotationAssertion( "UMLS:C0022408") AnnotationAssertion( "UMLS:C0240083") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of joints") -AnnotationAssertion(Annotation( ) "Abnormality of the joints") -AnnotationAssertion(Annotation( ) "Anomaly of the joints") -AnnotationAssertion(Annotation( ) "Joint disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of joints") +AnnotationAssertion(Annotation( ) "Abnormality of the joints") +AnnotationAssertion(Annotation( ) "Anomaly of the joints") +AnnotationAssertion(Annotation( ) "Joint disease") AnnotationAssertion( "HP:0001367") AnnotationAssertion(rdfs:label "Abnormal joint morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33741,8 +33734,8 @@ AnnotationAssertion(Annotation( "MSH:D001168") AnnotationAssertion( "SNOMEDCT_US:3723001") AnnotationAssertion( "UMLS:C0003864") -AnnotationAssertion(Annotation( ) "Arthritis") -AnnotationAssertion(Annotation( ) Annotation( ) "Joint inflammation") +AnnotationAssertion(Annotation( ) "Arthritis") +AnnotationAssertion(Annotation( ) Annotation( ) "Joint inflammation") AnnotationAssertion( "HP:0001369") AnnotationAssertion(rdfs:label "Arthritis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -33755,7 +33748,7 @@ AnnotationAssertion( "SNOMEDCT_US:69896004") AnnotationAssertion( "UMLS:C0003873") AnnotationAssertion(Annotation( ) "RA") -AnnotationAssertion(Annotation( ) "Rheumatoid arthritis") +AnnotationAssertion(Annotation( ) "Rheumatoid arthritis") AnnotationAssertion( "HP:0001370") AnnotationAssertion(rdfs:label "Rheumatoid arthritis") SubClassOf( ) @@ -33779,7 +33772,7 @@ AnnotationAssertion( "UMLS:C0009918") AnnotationAssertion( "UMLS:C0333068") AnnotationAssertion( "UMLS:C1850530") -AnnotationAssertion(Annotation( ) "Flexed joint that cannot be straightened") +AnnotationAssertion(Annotation( ) "Flexed joint that cannot be straightened") AnnotationAssertion( "Flexion contractures") AnnotationAssertion( "Flexion contractures of joints") AnnotationAssertion( "HP:0001371") @@ -33796,8 +33789,8 @@ AnnotationAssertion( "SNOMEDCT_US:108367008") AnnotationAssertion( "SNOMEDCT_US:87642003") AnnotationAssertion( "UMLS:C0012691") -AnnotationAssertion(Annotation( ) "Joint dislocation") -AnnotationAssertion(Annotation( ) Annotation( ) "Joint dislocations") +AnnotationAssertion(Annotation( ) "Joint dislocation") +AnnotationAssertion(Annotation( ) Annotation( ) "Joint dislocations") AnnotationAssertion( "HP:0001373") AnnotationAssertion(rdfs:comment "Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation.") AnnotationAssertion(rdfs:label "Joint dislocation") @@ -33814,7 +33807,7 @@ AnnotationAssertion( "Congenital dislocation of the hips") AnnotationAssertion( "Congenital hip anomaly") AnnotationAssertion( "Congenital hip dislocations") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated hip since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated hip since birth") AnnotationAssertion( "HP:0001374") AnnotationAssertion(rdfs:label "Congenital hip dislocation") SubClassOf( ) @@ -33824,11 +33817,11 @@ SubClassOf( ) "A reduction in the freedom of movement of one or more joints.") AnnotationAssertion( "HP:0003101") AnnotationAssertion( "UMLS:C1857108") -AnnotationAssertion(Annotation( ) "Decreased joint mobility") -AnnotationAssertion(Annotation( ) "Decreased mobility of joints") -AnnotationAssertion(Annotation( ) "Limitation of joint mobility") -AnnotationAssertion(Annotation( ) "Limited joint mobility") -AnnotationAssertion(Annotation( ) "Limited joint motion") +AnnotationAssertion(Annotation( ) "Decreased joint mobility") +AnnotationAssertion(Annotation( ) "Decreased mobility of joints") +AnnotationAssertion(Annotation( ) "Limitation of joint mobility") +AnnotationAssertion(Annotation( ) "Limited joint mobility") +AnnotationAssertion(Annotation( ) "Limited joint motion") AnnotationAssertion( "HP:0001376") AnnotationAssertion(rdfs:label "Limitation of joint mobility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33839,13 +33832,13 @@ SubClassOf( ) "Limited ability to straighten the arm at the elbow joint.") AnnotationAssertion( "HP:0005073") AnnotationAssertion( "UMLS:C1867103") -AnnotationAssertion(Annotation( ) "Decreased elbow extension") -AnnotationAssertion(Annotation( ) "Elbow limited extension") -AnnotationAssertion(Annotation( ) "Limitation of elbow extension") -AnnotationAssertion(Annotation( ) "Limited elbow extension") -AnnotationAssertion(Annotation( ) "Limited extension at elbows") -AnnotationAssertion(Annotation( ) "Limited forearm extension") -AnnotationAssertion(Annotation( ) "Restricted elbow extension") +AnnotationAssertion(Annotation( ) "Decreased elbow extension") +AnnotationAssertion(Annotation( ) "Elbow limited extension") +AnnotationAssertion(Annotation( ) "Limitation of elbow extension") +AnnotationAssertion(Annotation( ) "Limited elbow extension") +AnnotationAssertion(Annotation( ) "Limited extension at elbows") +AnnotationAssertion(Annotation( ) "Limited forearm extension") +AnnotationAssertion(Annotation( ) "Restricted elbow extension") AnnotationAssertion( "HP:0001377") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Limited elbow extension") @@ -33872,12 +33865,12 @@ AnnotationAssertion( "HP:0005034") AnnotationAssertion( "SNOMEDCT_US:298181000") AnnotationAssertion( "UMLS:C1844820") -AnnotationAssertion(Annotation( ) "Double-Jointed") +AnnotationAssertion(Annotation( ) "Double-Jointed") AnnotationAssertion( "Extensible joints") -AnnotationAssertion(Annotation( ) "Flexible joints") +AnnotationAssertion(Annotation( ) "Flexible joints") AnnotationAssertion( "Hyperextensible joints") AnnotationAssertion( "Increased joint mobility") -AnnotationAssertion(Annotation( ) "Increased mobility of joints") +AnnotationAssertion(Annotation( ) "Increased mobility of joints") AnnotationAssertion( "Joint hyperextensibility") AnnotationAssertion( "HP:0001382") AnnotationAssertion(rdfs:label "Joint hypermobility") @@ -33888,8 +33881,8 @@ SubClassOf( ) "An abnormality of the hip joint.") AnnotationAssertion( "UMLS:C4020870") -AnnotationAssertion(Annotation( ) "Abnormality of the hip joint") -AnnotationAssertion(Annotation( ) "Abnormality of the hip joints") +AnnotationAssertion(Annotation( ) "Abnormality of the hip joint") +AnnotationAssertion(Annotation( ) "Abnormality of the hip joints") AnnotationAssertion( "HP:0001384") AnnotationAssertion(rdfs:label "Abnormal hip joint morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33900,7 +33893,7 @@ SubClassOf( ) "The presence of developmental dysplasia of the hip.") AnnotationAssertion( "HP:0008787") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal formation of the hip") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal formation of the hip") AnnotationAssertion( "MSH:D006618") AnnotationAssertion( "SNOMEDCT_US:48334007") AnnotationAssertion( "SNOMEDCT_US:52781008") @@ -33915,7 +33908,7 @@ SubClassOf( "SNOMEDCT_US:271771009") AnnotationAssertion( "UMLS:C0152031") -AnnotationAssertion(Annotation( ) "Joint swelling") +AnnotationAssertion(Annotation( ) "Joint swelling") AnnotationAssertion( "HP:0001386") AnnotationAssertion(rdfs:label "Joint swelling") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33929,9 +33922,9 @@ AnnotationAssertion( "HP:0003033") AnnotationAssertion( "SNOMEDCT_US:84445001") AnnotationAssertion( "UMLS:C0162298") -AnnotationAssertion(Annotation( ) "Joint stiffness") -AnnotationAssertion(Annotation( ) "Stiff joint") -AnnotationAssertion(Annotation( ) "Stiff joints") +AnnotationAssertion(Annotation( ) "Joint stiffness") +AnnotationAssertion(Annotation( ) "Stiff joint") +AnnotationAssertion(Annotation( ) "Stiff joints") AnnotationAssertion( "HP:0001387") AnnotationAssertion(rdfs:label "Joint stiffness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33949,12 +33942,12 @@ AnnotationAssertion( "UMLS:C0086437") AnnotationAssertion( "UMLS:C0158359") AnnotationAssertion( "Hyperlaxity") -AnnotationAssertion(Annotation( ) Annotation( ) "Joint instability") +AnnotationAssertion(Annotation( ) Annotation( ) "Joint instability") AnnotationAssertion( "Joint ligamentous laxity") -AnnotationAssertion(Annotation( ) "Lax joints") +AnnotationAssertion(Annotation( ) "Lax joints") AnnotationAssertion( "Ligamentous laxity") -AnnotationAssertion(Annotation( ) "Loose-jointedness") -AnnotationAssertion(Annotation( ) "Loosejointedness") +AnnotationAssertion(Annotation( ) "Loose-jointedness") +AnnotationAssertion(Annotation( ) "Loosejointedness") AnnotationAssertion( "HP:0001388") AnnotationAssertion(rdfs:comment "Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles.") AnnotationAssertion(rdfs:label "Joint laxity") @@ -33967,10 +33960,10 @@ AnnotationAssertion( "SNOMEDCT_US:235856003") AnnotationAssertion( "UMLS:C0023895") AnnotationAssertion( "UMLS:C4021780") -AnnotationAssertion(Annotation( ) "Abnormal liver") -AnnotationAssertion(Annotation( ) "Abnormality of the liver") -AnnotationAssertion(Annotation( ) "Liver abnormality") -AnnotationAssertion(Annotation( ) "Liver disease") +AnnotationAssertion(Annotation( ) "Abnormal liver") +AnnotationAssertion(Annotation( ) "Abnormality of the liver") +AnnotationAssertion(Annotation( ) "Liver abnormality") +AnnotationAssertion(Annotation( ) "Liver disease") AnnotationAssertion( "HP:0001392") AnnotationAssertion(rdfs:label "Abnormality of the liver") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -33983,7 +33976,7 @@ AnnotationAssertion( "SNOMEDCT_US:19943007") AnnotationAssertion( "UMLS:C0023890") AnnotationAssertion( "Hepatic cirrhosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Scar tissue replaces healthy tissue in the liver") +AnnotationAssertion(Annotation( ) Annotation( ) "Scar tissue replaces healthy tissue in the liver") AnnotationAssertion(Annotation( ) "Liver cirrhosis") AnnotationAssertion( "HP:0001394") AnnotationAssertion(rdfs:comment "Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies.") @@ -34010,7 +34003,7 @@ AnnotationAssertion( "SNOMEDCT_US:30144000") AnnotationAssertion( "SNOMEDCT_US:33688009") AnnotationAssertion( "UMLS:C0008370") -AnnotationAssertion(Annotation( ) Annotation( ) "Slowed or blocked flow of bile from liver") +AnnotationAssertion(Annotation( ) Annotation( ) "Slowed or blocked flow of bile from liver") AnnotationAssertion( "HP:0001396") AnnotationAssertion(rdfs:label "Cholestasis") SubClassOf( ) @@ -34024,8 +34017,8 @@ AnnotationAssertion( "SNOMEDCT_US:197321007") AnnotationAssertion( "SNOMEDCT_US:442191002") AnnotationAssertion( "UMLS:C2711227") -AnnotationAssertion(Annotation( ) "Fatty infiltration of liver") -AnnotationAssertion(Annotation( ) "Fatty liver") +AnnotationAssertion(Annotation( ) "Fatty infiltration of liver") +AnnotationAssertion(Annotation( ) "Fatty liver") AnnotationAssertion( "Liver steatosis") AnnotationAssertion( "Steatosis") AnnotationAssertion( "HP:0001397") @@ -34038,7 +34031,7 @@ SubClassOf( "MSH:D017093") AnnotationAssertion( "SNOMEDCT_US:59927004") AnnotationAssertion( "UMLS:C0085605") -AnnotationAssertion(Annotation( ) "Liver failure") +AnnotationAssertion(Annotation( ) "Liver failure") AnnotationAssertion( "HP:0001399") AnnotationAssertion(rdfs:label "Hepatic failure") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34091,7 +34084,7 @@ SubClassOf( (Hepatocellular necrosis) AnnotationAssertion( "UMLS:C1855038") -AnnotationAssertion(Annotation( ) Annotation( ) "Death of liver cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Death of liver cells") AnnotationAssertion( "Hepatocellular loss") AnnotationAssertion( "HP:0001404") AnnotationAssertion(rdfs:label "Hepatocellular necrosis") @@ -34110,7 +34103,7 @@ SubClassOf( (Intrahepatic cholestasis) AnnotationAssertion(Annotation( ) "Impairment of bile flow due to obstruction in the small bile ducts within the liver.") -AnnotationAssertion(Annotation( ) Annotation( ) "Impaired release of bile from liver") +AnnotationAssertion(Annotation( ) Annotation( ) "Impaired release of bile from liver") AnnotationAssertion( "MSH:D002780") AnnotationAssertion( "SNOMEDCT_US:4637005") AnnotationAssertion( "UMLS:C0008372") @@ -34123,7 +34116,7 @@ SubClassOf( "SNOMEDCT_US:85057007") AnnotationAssertion( "UMLS:C0267834") -AnnotationAssertion(Annotation( ) "Liver cysts") +AnnotationAssertion(Annotation( ) "Liver cysts") AnnotationAssertion( "HP:0001407") AnnotationAssertion(rdfs:label "Hepatic cysts") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -34164,10 +34157,10 @@ AnnotationAssertion( "UMLS:C0086565") AnnotationAssertion( "UMLS:C0232744") AnnotationAssertion( "UMLS:C3279149") -AnnotationAssertion(Annotation( ) "Decreased liver function") -AnnotationAssertion(Annotation( ) "Liver dysfunction") +AnnotationAssertion(Annotation( ) "Decreased liver function") +AnnotationAssertion(Annotation( ) "Liver dysfunction") AnnotationAssertion( "Hepatopathy") -AnnotationAssertion(Annotation( ) Annotation( ) "Liver dysfunction, mild") +AnnotationAssertion(Annotation( ) Annotation( ) "Liver dysfunction, mild") AnnotationAssertion( "HP:0001410") AnnotationAssertion(rdfs:label "Decreased liver function") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34229,7 +34222,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T10:59:00Z") AnnotationAssertion( "UMLS:C4025786") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hand muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hand muscles") AnnotationAssertion( "HP:0001421") AnnotationAssertion(rdfs:label "Abnormality of the musculature of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34294,7 +34287,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-07T10:18:00Z") AnnotationAssertion( "HP:0004300") AnnotationAssertion( "UMLS:C4021779") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal calf muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal calf muscles") AnnotationAssertion( "Abnormality of calf musculature") AnnotationAssertion( "HP:0001430") AnnotationAssertion(rdfs:label "Abnormality of the calf musculature") @@ -34308,7 +34301,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-02-20T10:51:00Z") AnnotationAssertion( "SNOMEDCT_US:36760000") AnnotationAssertion( "UMLS:C0019214") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged liver and spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged liver and spleen") AnnotationAssertion( "HP:0001433") AnnotationAssertion(rdfs:label "Hepatosplenomegaly") EquivalentClasses( ObjectIntersectionOf(ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))))) @@ -34321,7 +34314,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-07T10:19:00Z") AnnotationAssertion( "HP:0004301") AnnotationAssertion( "UMLS:C4021778") -AnnotationAssertion(Annotation( ) "Abnormality of shoulder musculature") +AnnotationAssertion(Annotation( ) "Abnormality of shoulder musculature") AnnotationAssertion( "HP:0001435") AnnotationAssertion(rdfs:label "Abnormality of the shoulder girdle musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34333,7 +34326,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-07T10:21:00Z") AnnotationAssertion( "UMLS:C4025785") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal foot muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal foot muscles") AnnotationAssertion( "HP:0001436") AnnotationAssertion(rdfs:label "Abnormality of the foot musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34355,9 +34348,9 @@ SubClassOf( ) "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.") AnnotationAssertion( "UMLS:C4020869") AnnotationAssertion( "Abnormality of abdomen morphology") -AnnotationAssertion(Annotation( ) "Abnormality of abdomen structure") +AnnotationAssertion(Annotation( ) "Abnormality of abdomen structure") AnnotationAssertion( "Abnormality of the abdomen") -AnnotationAssertion(Annotation( ) "Abdomen abnormality") +AnnotationAssertion(Annotation( ) "Abdomen abnormality") AnnotationAssertion( "HP:0001438") AnnotationAssertion(rdfs:label "Abnormal abdomen morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34371,7 +34364,7 @@ AnnotationAssertion( "HP:0008098") AnnotationAssertion( "UMLS:C1862697") AnnotationAssertion( "Fusion of metatarsals") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of the long bones of the feet") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of the long bones of the feet") AnnotationAssertion( "Synostosis involving metatarsal bones") AnnotationAssertion( "HP:0001440") AnnotationAssertion(rdfs:label "Metatarsal synostosis") @@ -34385,7 +34378,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T10:27:00Z") AnnotationAssertion( "UMLS:C4025783") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thigh muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thigh muscles") AnnotationAssertion( "HP:0001441") AnnotationAssertion(rdfs:label "Abnormality of the musculature of the thigh") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34410,7 +34403,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T10:31:00Z") AnnotationAssertion( "UMLS:C4025782") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of glutes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of glutes") AnnotationAssertion( "HP:0001443") AnnotationAssertion(rdfs:label "Abnormality of the gluteal musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34438,7 +34431,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T10:40:00Z") AnnotationAssertion( "UMLS:C4025779") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal upper limb muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal upper limb muscles") AnnotationAssertion( "HP:0001446") AnnotationAssertion(rdfs:label "Abnormality of the musculature of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34450,7 +34443,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-17T02:37:00Z") AnnotationAssertion( "UMLS:C4025778") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of long bones of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of long bones of foot") AnnotationAssertion( "HP:0001449") AnnotationAssertion(rdfs:label "Duplication of metatarsal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34500,7 +34493,7 @@ SubClassOf( ) "Syndactyly with fusion of toes one to three.") AnnotationAssertion( "UMLS:C4025774") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-3rd toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-3rd toes") AnnotationAssertion( "HP:0001459") AnnotationAssertion(rdfs:label "1-3 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34512,8 +34505,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-07T10:46:00Z") AnnotationAssertion( "UMLS:C4025773") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small skeletal muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped skeletal muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small skeletal muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped skeletal muscles") AnnotationAssertion( "HP:0001460") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the skeletal musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34525,8 +34518,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-07T10:49:00Z") AnnotationAssertion( "UMLS:C4025772") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shoulder muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shoulder muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shoulder muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shoulder muscles") AnnotationAssertion( "HP:0001464") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the shoulder musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34539,7 +34532,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-07T10:50:00Z") AnnotationAssertion( "UMLS:C4025771") AnnotationAssertion(Annotation( ) "Shoulder muscle degeneration") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of shoulder muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of shoulder muscles") AnnotationAssertion( "HP:0001465") AnnotationAssertion(rdfs:label "Amyotrophy involving the shoulder musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34560,8 +34553,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-07T10:51:00Z") AnnotationAssertion( "UMLS:C4025770") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small upper limb muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped upper limb muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small upper limb muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped upper limb muscles") AnnotationAssertion( "HP:0001467") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the musculature of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34574,8 +34567,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-07T10:52:00Z") AnnotationAssertion( "UMLS:C4025769") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small upper arm muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped upper arm muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small upper arm muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped upper arm muscles") AnnotationAssertion( "HP:0001468") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the musculature of the upper arm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34606,8 +34599,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T10:56:00Z") AnnotationAssertion( "UMLS:C4025766") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pelvis muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pelvis muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pelvis muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pelvis muscles") AnnotationAssertion( "HP:0001471") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the musculature of the pelvis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34656,8 +34649,8 @@ SubClassOf( (Delayed closure of the anterior fontanelle) AnnotationAssertion(Annotation( ) "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed closure of the soft spot on the skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Late closure of soft spot on the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed closure of the soft spot on the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Late closure of soft spot on the skull") AnnotationAssertion( "SNOMEDCT_US:295091000119100") AnnotationAssertion( "UMLS:C3840083") AnnotationAssertion( "UMLS:C4072831") @@ -34667,7 +34660,7 @@ AnnotationAssertion(Annotation( ) "Late closure of anterior fontanelle") AnnotationAssertion( "Late closure of large anterior fontanel") AnnotationAssertion(Annotation( ) "Late closure of the bregma sutures") -AnnotationAssertion(Annotation( ) Annotation( ) "Later than typical closing of soft spot of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Later than typical closing of soft spot of skull") AnnotationAssertion( "Persistent anterior fontanelle") AnnotationAssertion( "HP:0001476") AnnotationAssertion(rdfs:label "Delayed closure of the anterior fontanelle") @@ -34691,7 +34684,7 @@ AnnotationAssertion( "SNOMEDCT_US:403536009") AnnotationAssertion( "SNOMEDCT_US:699225003") AnnotationAssertion( "UMLS:C0016689") -AnnotationAssertion(Annotation( ) "Freckling") +AnnotationAssertion(Annotation( ) "Freckling") AnnotationAssertion( "HP:0001480") AnnotationAssertion(rdfs:label "Freckling") SubClassOf( ) @@ -34700,12 +34693,12 @@ SubClassOf( ) "Slightly elevated lesions on or in the skin with a diameter of over 5 mm.") AnnotationAssertion( "HP:0005903") -AnnotationAssertion(Annotation( ) Annotation( ) "Nodule below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Nodule below the skin") AnnotationAssertion( "SNOMEDCT_US:95325000") AnnotationAssertion( "UMLS:C0151811") AnnotationAssertion( "UMLS:C0746926") -AnnotationAssertion(Annotation( ) Annotation( ) "Firm lump under the skin") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Growth of abnormal tissue under the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Firm lump under the skin") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Growth of abnormal tissue under the skin") AnnotationAssertion( "Multiple, subcutaneous nodules") AnnotationAssertion(Annotation( ) "Subcutaneous nodules") AnnotationAssertion( "HP:0001482") @@ -34745,7 +34738,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Bilateral ptosis) AnnotationAssertion( "UMLS:C1865916") -AnnotationAssertion(Annotation( ) Annotation( ) "Drooping of both upper eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Drooping of both upper eyelids") AnnotationAssertion( "HP:0001488") AnnotationAssertion(rdfs:label "Bilateral ptosis") SubClassOf( ) @@ -34820,13 +34813,13 @@ AnnotationAssertion( "HP:0006117") AnnotationAssertion( "HP:0006130") AnnotationAssertion( "HP:0006227") -AnnotationAssertion(Annotation( ) Annotation( ) "Small wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small wrist bones") AnnotationAssertion( "UMLS:C1863749") AnnotationAssertion( "UMLS:C4280594") AnnotationAssertion( "Hypoplasia of carpal bones") AnnotationAssertion( "Hypoplastic carpal bones") -AnnotationAssertion(Annotation( ) "Small carpal bones") -AnnotationAssertion(Annotation( ) "Small carpals") +AnnotationAssertion(Annotation( ) "Small carpal bones") +AnnotationAssertion(Annotation( ) "Small carpals") AnnotationAssertion( "HP:0001498") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Carpal bone hypoplasia") @@ -34838,9 +34831,9 @@ SubClassOf( "PMID:19125433") "Increased width of a non-thumb digit of the hand.") AnnotationAssertion( "HP:0001497") AnnotationAssertion( "UMLS:C1844906") -AnnotationAssertion(Annotation( ) "Broad finger") -AnnotationAssertion(Annotation( ) "Broad fingers") -AnnotationAssertion(Annotation( ) "Wide fingers") +AnnotationAssertion(Annotation( ) "Broad finger") +AnnotationAssertion(Annotation( ) "Broad fingers") +AnnotationAssertion(Annotation( ) "Wide fingers") AnnotationAssertion( "HP:0001500") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify \"Broad fingers, F1-5\" instead of separately specifying \"Broad thumb\" and \"Broad fingers F2-5\".") @@ -34851,7 +34844,7 @@ SubClassOf( (6 metacarpals) AnnotationAssertion( "UMLS:C1861360") -AnnotationAssertion(Annotation( ) Annotation( ) "6 long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "6 long bones of hand") AnnotationAssertion( "HP:0001501") AnnotationAssertion(rdfs:label "6 metacarpals") SubClassOf( ) @@ -34870,9 +34863,9 @@ SubClassOf( "HP:0008904") AnnotationAssertion( "UMLS:C0262361") -AnnotationAssertion(Annotation( ) "Abnormal growth") -AnnotationAssertion(Annotation( ) "Growth abnormality") -AnnotationAssertion(Annotation( ) "Growth issue") +AnnotationAssertion(Annotation( ) "Abnormal growth") +AnnotationAssertion(Annotation( ) "Growth abnormality") +AnnotationAssertion(Annotation( ) "Growth issue") AnnotationAssertion( "HP:0001507") AnnotationAssertion(rdfs:label "Growth abnormality") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34885,15 +34878,15 @@ AnnotationAssertion( "HP:0008853") AnnotationAssertion( "HP:0008878") AnnotationAssertion( "HP:0008916") -AnnotationAssertion(Annotation( ) "Undergrowth") +AnnotationAssertion(Annotation( ) "Undergrowth") AnnotationAssertion( "SNOMEDCT_US:36440009") AnnotationAssertion( "SNOMEDCT_US:432788009") AnnotationAssertion( "UMLS:C0231246") AnnotationAssertion( "UMLS:C2315100") -AnnotationAssertion(Annotation( ) Annotation( ) "Faltering weight") +AnnotationAssertion(Annotation( ) Annotation( ) "Faltering weight") AnnotationAssertion( "Postnatal failure to thrive") -AnnotationAssertion(Annotation( ) Annotation( ) "Weight faltering") -AnnotationAssertion(Annotation( ) "Poor weight gain") +AnnotationAssertion(Annotation( ) Annotation( ) "Weight faltering") +AnnotationAssertion(Annotation( ) "Poor weight gain") AnnotationAssertion( "HP:0001508") AnnotationAssertion(rdfs:comment "Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile).") AnnotationAssertion(rdfs:label "Failure to thrive") @@ -34921,14 +34914,14 @@ AnnotationAssertion( "UMLS:C0878787") AnnotationAssertion( "UMLS:C1837385") AnnotationAssertion( "UMLS:C3552463") -AnnotationAssertion(Annotation( ) "Delayed growth") -AnnotationAssertion(Annotation( ) "Growth deficiency") -AnnotationAssertion(Annotation( ) "Growth delay") -AnnotationAssertion(Annotation( ) "Growth failure") -AnnotationAssertion(Annotation( ) "Growth retardation") -AnnotationAssertion(Annotation( ) "Poor growth") -AnnotationAssertion(Annotation( ) "Retarded growth") -AnnotationAssertion(Annotation( ) Annotation( ) "Very poor growth") +AnnotationAssertion(Annotation( ) "Delayed growth") +AnnotationAssertion(Annotation( ) "Growth deficiency") +AnnotationAssertion(Annotation( ) "Growth delay") +AnnotationAssertion(Annotation( ) "Growth failure") +AnnotationAssertion(Annotation( ) "Growth retardation") +AnnotationAssertion(Annotation( ) "Poor growth") +AnnotationAssertion(Annotation( ) "Retarded growth") +AnnotationAssertion(Annotation( ) Annotation( ) "Very poor growth") AnnotationAssertion( "HP:0001510") AnnotationAssertion(rdfs:comment "Poor or abnormally slow gains in weight or height in a child.") AnnotationAssertion(rdfs:label "Growth delay") @@ -34955,9 +34948,9 @@ AnnotationAssertion( "Intrauterine growth restriction") AnnotationAssertion( "Intrauterine growth retardation, IUGR") AnnotationAssertion( "Intrauterine retardation") -AnnotationAssertion(Annotation( ) "Prenatal growth deficiency") +AnnotationAssertion(Annotation( ) "Prenatal growth deficiency") AnnotationAssertion( "Prenatal growth failure") -AnnotationAssertion(Annotation( ) "Prenatal growth retardation") +AnnotationAssertion(Annotation( ) "Prenatal growth retardation") AnnotationAssertion( "Prenatal onset growth retardation") AnnotationAssertion( "Prenatal-onset growth retardation") AnnotationAssertion( "Small for gestational age infant") @@ -34974,8 +34967,8 @@ AnnotationAssertion( "SNOMEDCT_US:414915002") AnnotationAssertion( "SNOMEDCT_US:414916001") AnnotationAssertion( "UMLS:C0028754") -AnnotationAssertion(Annotation( ) Annotation( ) "Having too much body fat") -AnnotationAssertion(Annotation( ) "Obesity") +AnnotationAssertion(Annotation( ) Annotation( ) "Having too much body fat") +AnnotationAssertion(Annotation( ) "Obesity") AnnotationAssertion( "HP:0001513") AnnotationAssertion(rdfs:label "Obesity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -34993,9 +34986,9 @@ AnnotationAssertion( "SNOMEDCT_US:276610007") AnnotationAssertion( "UMLS:C0024032") AnnotationAssertion( "UMLS:C0235991") -AnnotationAssertion(Annotation( ) "Birth weight less than 10th percentile") -AnnotationAssertion(Annotation( ) "Low birth weight") -AnnotationAssertion(Annotation( ) "Small for gestational age") +AnnotationAssertion(Annotation( ) "Birth weight less than 10th percentile") +AnnotationAssertion(Annotation( ) "Low birth weight") +AnnotationAssertion(Annotation( ) "Small for gestational age") AnnotationAssertion( "HP:0001518") AnnotationAssertion(rdfs:label "Small for gestational age") SubClassOf( ) @@ -35022,8 +35015,8 @@ SubClassOf( ) Annotation( "eMedicine:262679") "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.") AnnotationAssertion( "HP:0001825") AnnotationAssertion( "UMLS:C1848395") -AnnotationAssertion(Annotation( ) "Birth weight > 90th percentile") -AnnotationAssertion(Annotation( ) "Birthweight > 90th percentile") +AnnotationAssertion(Annotation( ) "Birth weight > 90th percentile") +AnnotationAssertion(Annotation( ) "Birthweight > 90th percentile") AnnotationAssertion( "Fetal macrosomia") AnnotationAssertion(Annotation( ) "Foetal macrosomia") AnnotationAssertion( "Macrosomia") @@ -35043,10 +35036,10 @@ AnnotationAssertion( "HP:0003827") AnnotationAssertion( "UMLS:C1844947") AnnotationAssertion( "UMLS:C1858430") -AnnotationAssertion(Annotation( ) "Death in infancy") -AnnotationAssertion(Annotation( ) "Infantile death") -AnnotationAssertion(Annotation( ) "Lethal in infancy") -AnnotationAssertion(Annotation( ) "Death in early childhood") +AnnotationAssertion(Annotation( ) "Death in infancy") +AnnotationAssertion(Annotation( ) "Infantile death") +AnnotationAssertion(Annotation( ) "Lethal in infancy") +AnnotationAssertion(Annotation( ) "Death in early childhood") AnnotationAssertion( "HP:0001522") AnnotationAssertion(rdfs:label "Death in infancy") SubClassOf( ) @@ -35056,9 +35049,9 @@ SubClassOf( "HP:0008876") AnnotationAssertion( "UMLS:C1855514") AnnotationAssertion( "Marked failure to thrive") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe faltering weight") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe faltering weight") AnnotationAssertion( "Severe postnatal failure to thrive") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe weight faltering") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe weight faltering") AnnotationAssertion( "HP:0001525") AnnotationAssertion(rdfs:label "Severe failure to thrive") SubClassOf( ) @@ -35071,7 +35064,7 @@ AnnotationAssertion( "SNOMEDCT_US:56007004") AnnotationAssertion( "UMLS:C0332890") AnnotationAssertion( "Asymmetric limb hypertrophy") -AnnotationAssertion(Annotation( ) "Asymmetric overgrowth") +AnnotationAssertion(Annotation( ) "Asymmetric overgrowth") AnnotationAssertion( "HP:0001528") AnnotationAssertion(rdfs:label "Hemihypertrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -35086,7 +35079,7 @@ AnnotationAssertion( "UMLS:C1835580") AnnotationAssertion( "UMLS:C3550204") AnnotationAssertion( "Postnatal onset of mild growth retardation") -AnnotationAssertion(Annotation( ) "Mild growth deficiency") +AnnotationAssertion(Annotation( ) "Mild growth deficiency") AnnotationAssertion( "HP:0001530") AnnotationAssertion(rdfs:label "Mild postnatal growth retardation") SubClassOf( ) @@ -35097,8 +35090,8 @@ AnnotationAssertion( "HP:0008925") AnnotationAssertion( "UMLS:C1867873") AnnotationAssertion( "Failure to thrive in first year of life") -AnnotationAssertion(Annotation( ) Annotation( ) "Faltering weight in infancy") -AnnotationAssertion(Annotation( ) Annotation( ) "Weight faltering in infancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Faltering weight in infancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Weight faltering in infancy") AnnotationAssertion( "HP:0001531") AnnotationAssertion(rdfs:label "Failure to thrive in infancy") SubClassOf( ) @@ -35109,9 +35102,9 @@ AnnotationAssertion(Annotation( "HP:0001529") AnnotationAssertion( "UMLS:C1850573") AnnotationAssertion( "Asthenic habitus") -AnnotationAssertion(Annotation( ) "Slender build") +AnnotationAssertion(Annotation( ) "Slender build") AnnotationAssertion( "Thin body habitus") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin build") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin build") AnnotationAssertion( "HP:0001533") AnnotationAssertion(rdfs:comment "Slender, long-limbed habitus.") AnnotationAssertion(rdfs:label "Slender build") @@ -35137,8 +35130,8 @@ SubClassOf( ) "A thrusting or bulging out of the abdomen.") AnnotationAssertion( "UMLS:C1854928") AnnotationAssertion( "Abdominal protuberance") -AnnotationAssertion(Annotation( ) Annotation( ) "Belly sticks out") -AnnotationAssertion(Annotation( ) Annotation( ) "Extended belly") +AnnotationAssertion(Annotation( ) Annotation( ) "Belly sticks out") +AnnotationAssertion(Annotation( ) Annotation( ) "Extended belly") AnnotationAssertion( "HP:0001538") AnnotationAssertion(rdfs:label "Protuberant abdomen") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -35165,7 +35158,7 @@ SubClassOf( ) "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).") AnnotationAssertion( "SNOMEDCT_US:62629000") AnnotationAssertion( "UMLS:C0221766") -AnnotationAssertion(Annotation( ) Annotation( ) "Gap between large left and right abdominal muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Gap between large left and right abdominal muscles") AnnotationAssertion( "HP:0001540") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns.") @@ -35179,7 +35172,7 @@ AnnotationAssertion(Annotation( "MSH:D001201") AnnotationAssertion( "SNOMEDCT_US:389026000") AnnotationAssertion( "UMLS:C0003962") -AnnotationAssertion(Annotation( ) "Accumulation of fluid in the abdomen") +AnnotationAssertion(Annotation( ) "Accumulation of fluid in the abdomen") AnnotationAssertion( "HP:0001541") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.") @@ -35203,8 +35196,8 @@ SubClassOf( ) "Abnormally prominent umbilicus (belly button).") AnnotationAssertion( "UMLS:C1837795") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent belly button") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent navel") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent belly button") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent navel") AnnotationAssertion( "HP:0001544") AnnotationAssertion(rdfs:label "Prominent umbilicus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -35226,7 +35219,7 @@ SubClassOf( ) "A morphological anomaly of the rib cage.") AnnotationAssertion( "UMLS:C4025763") -AnnotationAssertion(Annotation( ) "Abnormality of the rib cage") +AnnotationAssertion(Annotation( ) "Abnormality of the rib cage") AnnotationAssertion( "HP:0001547") AnnotationAssertion(rdfs:label "Abnormal rib cage morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -35238,7 +35231,7 @@ AnnotationAssertion(Annotation( "UMLS:C1849265") AnnotationAssertion( "UMLS:C1851731") AnnotationAssertion( "UMLS:C3150281") -AnnotationAssertion(Annotation( ) "General overgrowth") +AnnotationAssertion(Annotation( ) "General overgrowth") AnnotationAssertion(Annotation( ) "Generalised overgrowth") AnnotationAssertion(Annotation( ) "Generalized overgrowth") AnnotationAssertion( "HP:0001548") @@ -35261,8 +35254,8 @@ SubClassOf( ) "An abnormality of the structure or appearance of the umbilicus.") AnnotationAssertion( "UMLS:C1849338") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal belly button") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal navel") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal belly button") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal navel") AnnotationAssertion( "Abnormal umbilicus") AnnotationAssertion( "HP:0001551") AnnotationAssertion(rdfs:comment "The umbilicus is also known as the belly button or the navel.") @@ -35277,8 +35270,8 @@ AnnotationAssertion( "HP:0001553") AnnotationAssertion( "SNOMEDCT_US:24228002") AnnotationAssertion( "UMLS:C0264172") -AnnotationAssertion(Annotation( ) "Barrel chest") -AnnotationAssertion(Annotation( ) "Barrel-shaped chest") +AnnotationAssertion(Annotation( ) "Barrel chest") +AnnotationAssertion(Annotation( ) "Barrel-shaped chest") AnnotationAssertion( "HP:0001552") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease.") @@ -35290,7 +35283,7 @@ SubClassOf( ) "Lack of symmetry between the left and right halves of the thorax.") AnnotationAssertion( "UMLS:C1858033") -AnnotationAssertion(Annotation( ) "Asymmetric chest") +AnnotationAssertion(Annotation( ) "Asymmetric chest") AnnotationAssertion( "HP:0001555") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Asymmetry of the thorax") @@ -35327,7 +35320,7 @@ AnnotationAssertion( ) "Dminished foetal movement") AnnotationAssertion( "Fetal hypokinesia") AnnotationAssertion(Annotation( ) "Foetal hypokinesia") -AnnotationAssertion(Annotation( "PMID:2729383") Annotation( ) "Less than 10 fetal movements in 12 hours") +AnnotationAssertion(Annotation( "PMID:2729383") Annotation( ) "Less than 10 fetal movements in 12 hours") AnnotationAssertion(Annotation( ) "Less than 10 foetal movements in 12 hours") AnnotationAssertion( "Reduced fetal movement") AnnotationAssertion( "Reduced fetal movements") @@ -35355,7 +35348,7 @@ AnnotationAssertion( "MSH:D006831") AnnotationAssertion( "SNOMEDCT_US:86203003") AnnotationAssertion( "UMLS:C0020224") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "High levels of amniotic fluid") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "High levels of amniotic fluid") AnnotationAssertion( "Hydramnios") AnnotationAssertion( "Increased amniotic fluid index") AnnotationAssertion( "HP:0001561") @@ -35372,7 +35365,7 @@ AnnotationAssertion( "SNOMEDCT_US:59566000") AnnotationAssertion( "UMLS:C0079924") AnnotationAssertion( "UMLS:C3550658") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Low levels of amniotic fluid") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Low levels of amniotic fluid") AnnotationAssertion( "Maternal oligohydramnios") AnnotationAssertion( "Decreased amniotic fluid index") AnnotationAssertion( "HP:0001562") @@ -35397,16 +35390,16 @@ AnnotationAssertion( "HP:0001570") AnnotationAssertion( "HP:0006300") AnnotationAssertion( "HP:0006324") -AnnotationAssertion(Annotation( ) "Central incisor gap") +AnnotationAssertion(Annotation( ) "Central incisor gap") AnnotationAssertion( "UMLS:C1835762") AnnotationAssertion( "UMLS:C1845110") AnnotationAssertion( "UMLS:C4280252") AnnotationAssertion( "Diastasis of the central incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Gap between upper front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Gap between upper front teeth") AnnotationAssertion( "Separated superior central incisors") -AnnotationAssertion(Annotation( ) "Wide gap between upper central incisors") +AnnotationAssertion(Annotation( ) "Wide gap between upper central incisors") AnnotationAssertion( "Wide upper central incisors") -AnnotationAssertion(Annotation( ) "Widely spaced upper incisors") +AnnotationAssertion(Annotation( ) "Widely spaced upper incisors") AnnotationAssertion(Annotation( ) "Diastema between maxillary central incisors") AnnotationAssertion(Annotation( ) "Diastema between upper front teeth") AnnotationAssertion(Annotation( ) "Diastema between upper incisors") @@ -35418,12 +35411,12 @@ SubClassOf( (Multiple impacted teeth) AnnotationAssertion(Annotation( ) "The presence of multiple impacted teeth.") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple buried teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple buried teeth") AnnotationAssertion(Annotation( ) "Multiple retained teeth") AnnotationAssertion( "UMLS:C1839965") AnnotationAssertion( "UMLS:C4280593") -AnnotationAssertion(Annotation( ) "Impacted teeth") -AnnotationAssertion(Annotation( ) "Multiple impacted teeth") +AnnotationAssertion(Annotation( ) "Impacted teeth") +AnnotationAssertion(Annotation( ) "Multiple impacted teeth") AnnotationAssertion( "HP:0001571") AnnotationAssertion(rdfs:label "Multiple impacted teeth") SubClassOf( ) @@ -35438,11 +35431,11 @@ AnnotationAssertion( "UMLS:C4280590") AnnotationAssertion( "UMLS:C4280591") AnnotationAssertion( "UMLS:C4280592") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of tooth") -AnnotationAssertion(Annotation( ) "Large tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of tooth") +AnnotationAssertion(Annotation( ) "Large tooth") AnnotationAssertion( "Megalodontia") -AnnotationAssertion(Annotation( ) Annotation( ) "Tooth mass excess") +AnnotationAssertion(Annotation( ) Annotation( ) "Tooth mass excess") AnnotationAssertion( "HP:0001572") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased.") @@ -35490,8 +35483,8 @@ AnnotationAssertion(Annotation( "HP:0007563") AnnotationAssertion( "UMLS:C1853193") AnnotationAssertion( "Cutaneous infections") -AnnotationAssertion(Annotation( ) "Recurrent skin infections") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin infections, recurrent") +AnnotationAssertion(Annotation( ) "Recurrent skin infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin infections, recurrent") AnnotationAssertion( "HP:0001581") AnnotationAssertion(rdfs:label "Recurrent skin infections") SubClassOf( ) @@ -35502,9 +35495,9 @@ AnnotationAssertion(Annotation( "HP:0007391") AnnotationAssertion( "SNOMEDCT_US:201093004") AnnotationAssertion( "UMLS:C0581342") -AnnotationAssertion(Annotation( ) "Loose redundant skin") -AnnotationAssertion(Annotation( ) "Redundant skin folds") -AnnotationAssertion(Annotation( ) "Sagging, redundant skin") +AnnotationAssertion(Annotation( ) "Loose redundant skin") +AnnotationAssertion(Annotation( ) "Redundant skin folds") +AnnotationAssertion(Annotation( ) "Sagging, redundant skin") AnnotationAssertion( "HP:0001582") AnnotationAssertion(rdfs:label "Redundant skin") SubClassOf( ) @@ -35561,8 +35554,8 @@ AnnotationAssertion( "UMLS:C4280251") AnnotationAssertion(Annotation( ) "Agenesis of a tooth") AnnotationAssertion(Annotation( ) "Failure of development of a tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of a tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing a tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of a tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing a tooth") AnnotationAssertion( "HP:0001592") AnnotationAssertion(rdfs:label "Selective tooth agenesis") SubClassOf( ) @@ -35591,9 +35584,9 @@ SubClassOf( ) "An abnormality of the hair.") AnnotationAssertion( "UMLS:C0157733") AnnotationAssertion( "UMLS:C2677869") -AnnotationAssertion(Annotation( ) "Abnormality of the hair") -AnnotationAssertion(Annotation( ) "Hair abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the hair shaft") +AnnotationAssertion(Annotation( ) "Abnormality of the hair") +AnnotationAssertion(Annotation( ) "Hair abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the hair shaft") AnnotationAssertion( "HP:0001595") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal hair morphology") @@ -35610,7 +35603,7 @@ AnnotationAssertion( "SNOMEDCT_US:278040002") AnnotationAssertion( "SNOMEDCT_US:56317004") AnnotationAssertion( "UMLS:C0002170") -AnnotationAssertion(Annotation( ) "Hair loss") +AnnotationAssertion(Annotation( ) "Hair loss") AnnotationAssertion( "HP:0001596") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Alopecia") @@ -35624,8 +35617,8 @@ AnnotationAssertion( "SNOMEDCT_US:17790008") AnnotationAssertion( "UMLS:C0027339") AnnotationAssertion( "UMLS:C0853087") -AnnotationAssertion(Annotation( ) "Abnormality of the nail") -AnnotationAssertion(Annotation( ) "Nail disease") +AnnotationAssertion(Annotation( ) "Abnormality of the nail") +AnnotationAssertion(Annotation( ) "Nail disease") AnnotationAssertion( "HP:0001597") AnnotationAssertion(rdfs:comment "Abnormality of the fingernails and/or toenails.") AnnotationAssertion(rdfs:label "Abnormality of the nail") @@ -35639,7 +35632,7 @@ AnnotationAssertion( "SNOMEDCT_US:66270006") AnnotationAssertion( "UMLS:C0221261") AnnotationAssertion( "Koilonychia") -AnnotationAssertion(Annotation( ) "Spoon-shaped nails") +AnnotationAssertion(Annotation( ) "Spoon-shaped nails") AnnotationAssertion( "HP:0001598") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.") @@ -35663,7 +35656,7 @@ AnnotationAssertion(Annotation( "MSH:D055092") AnnotationAssertion( "SNOMEDCT_US:38086007") AnnotationAssertion( "UMLS:C0264303") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Softening of voice box tissue") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Softening of voice box tissue") AnnotationAssertion( "HP:0001601") AnnotationAssertion(rdfs:comment "Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor.") AnnotationAssertion(rdfs:label "Laryngomalacia") @@ -35695,7 +35688,7 @@ AnnotationAssertion( "UMLS:C1853729") AnnotationAssertion( "Hoarse voice due to vocal cord paresis") AnnotationAssertion( "Vocal cord paresis in severe cases") -AnnotationAssertion(Annotation( ) "Weakness of the vocal cords") +AnnotationAssertion(Annotation( ) "Weakness of the vocal cords") AnnotationAssertion( "HP:0001604") AnnotationAssertion(rdfs:comment "Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat.") AnnotationAssertion(rdfs:label "Vocal cord paresis") @@ -35711,7 +35704,7 @@ AnnotationAssertion( "SNOMEDCT_US:302912005") AnnotationAssertion( "UMLS:C0042928") AnnotationAssertion( "UMLS:C1854345") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to move vocal cords") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to move vocal cords") AnnotationAssertion( "Laryngeal paralysis") AnnotationAssertion( "HP:0001605") AnnotationAssertion(rdfs:comment "Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties.") @@ -35738,8 +35731,8 @@ SubClassOf( (Abnormality of the voice) AnnotationAssertion( "UMLS:C4021776") -AnnotationAssertion(Annotation( ) "Abnormality of the voice") -AnnotationAssertion(Annotation( ) "Voice abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of the voice") +AnnotationAssertion(Annotation( ) "Voice abnormality") AnnotationAssertion( "HP:0001608") AnnotationAssertion(rdfs:comment "This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.") AnnotationAssertion(rdfs:label "Abnormality of the voice") @@ -35755,9 +35748,9 @@ AnnotationAssertion( "SNOMEDCT_US:50219008") AnnotationAssertion( "UMLS:C0019825") AnnotationAssertion( "UMLS:C1854348") -AnnotationAssertion(Annotation( ) "Hoarse voice") -AnnotationAssertion(Annotation( ) "Hoarseness") -AnnotationAssertion(Annotation( ) "Husky voice") +AnnotationAssertion(Annotation( ) "Hoarse voice") +AnnotationAssertion(Annotation( ) "Hoarseness") +AnnotationAssertion(Annotation( ) "Husky voice") AnnotationAssertion( "HP:0001609") AnnotationAssertion(rdfs:label "Hoarse voice") SubClassOf( ) @@ -35775,8 +35768,8 @@ AnnotationAssertion( "UMLS:C0454555") AnnotationAssertion( "UMLS:C0566620") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Hypernasal voice") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Nasal speech") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Nasal voice") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Nasal speech") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Nasal voice") AnnotationAssertion( "HP:0001611") AnnotationAssertion(rdfs:comment "May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy.") AnnotationAssertion(rdfs:label "Hypernasal speech") @@ -35800,7 +35793,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Hoarse cry) AnnotationAssertion( "UMLS:C2678303") -AnnotationAssertion(Annotation( ) "Hoarse cry") +AnnotationAssertion(Annotation( ) "Hoarse cry") AnnotationAssertion( "HP:0001615") AnnotationAssertion(rdfs:label "Hoarse cry") SubClassOf( ) @@ -35815,8 +35808,8 @@ AnnotationAssertion(dcterms:contributor "MSH:D055154") AnnotationAssertion( "SNOMEDCT_US:47004009") AnnotationAssertion( "UMLS:C1527344") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Inability to produce voice sounds") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Voice change") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Inability to produce voice sounds") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Voice change") AnnotationAssertion( "HP:0001618") AnnotationAssertion(rdfs:label "Dysphonia") SubClassOf( ) @@ -35837,7 +35830,7 @@ AnnotationAssertion( "SNOMEDCT_US:51406002") AnnotationAssertion( "UMLS:C0241703") AnnotationAssertion( "Abnormally high-pitched voice") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "High pitched voice") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "High pitched voice") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) "High-pitched voice") AnnotationAssertion( "HP:0001620") AnnotationAssertion(rdfs:label "High pitched voice") @@ -35852,8 +35845,8 @@ AnnotationAssertion( "UMLS:C0241700") AnnotationAssertion( "UMLS:C0521007") AnnotationAssertion( "Quiet voice") -AnnotationAssertion(Annotation( ) "Soft voice") -AnnotationAssertion(Annotation( ) "Weak voice") +AnnotationAssertion(Annotation( ) "Soft voice") +AnnotationAssertion(Annotation( ) "Weak voice") AnnotationAssertion( "Hypophonia") AnnotationAssertion( "HP:0001621") AnnotationAssertion(rdfs:comment "Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization.") @@ -35869,11 +35862,11 @@ AnnotationAssertion( "SNOMEDCT_US:49550006") AnnotationAssertion( "UMLS:C0151526") AnnotationAssertion( "UMLS:C0233315") -AnnotationAssertion(Annotation( ) "Premature birth") +AnnotationAssertion(Annotation( ) "Premature birth") AnnotationAssertion( "Premature delivery") -AnnotationAssertion(Annotation( ) "Premature delivery of affected infants") +AnnotationAssertion(Annotation( ) "Premature delivery of affected infants") AnnotationAssertion( "Preterm birth") -AnnotationAssertion(Annotation( ) "Preterm delivery") +AnnotationAssertion(Annotation( ) "Preterm delivery") AnnotationAssertion( "Shortened gestation time") AnnotationAssertion( "HP:0001622") AnnotationAssertion(rdfs:label "Premature birth") @@ -35888,7 +35881,7 @@ AnnotationAssertion( "SNOMEDCT_US:6096002") AnnotationAssertion( "UMLS:C0006157") AnnotationAssertion( "Breech presentation at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Feet or buttocks of fetus positioned near opening of uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Feet or buttocks of fetus positioned near opening of uterus") AnnotationAssertion(Annotation( ) "Feet or buttocks of foetus positioned near opening of uterus") AnnotationAssertion( "HP:0001623") AnnotationAssertion(rdfs:label "Breech presentation") @@ -35903,9 +35896,9 @@ AnnotationAssertion( "SNOMEDCT_US:49601007") AnnotationAssertion( "UMLS:C0007222") AnnotationAssertion( "UMLS:C0243050") -AnnotationAssertion(Annotation( ) "Abnormality of the cardiovascular system") -AnnotationAssertion(Annotation( ) "Cardiovascular abnormality") -AnnotationAssertion(Annotation( ) "Cardiovascular disease") +AnnotationAssertion(Annotation( ) "Abnormality of the cardiovascular system") +AnnotationAssertion(Annotation( ) "Cardiovascular abnormality") +AnnotationAssertion(Annotation( ) "Cardiovascular disease") AnnotationAssertion( "HP:0001626") AnnotationAssertion(rdfs:comment "The cardiovascular system consists of the heart, vasculature, and the lymphatic system.") AnnotationAssertion(rdfs:label "Abnormality of the cardiovascular system") @@ -35921,14 +35914,14 @@ AnnotationAssertion( "UMLS:C0018798") AnnotationAssertion( "UMLS:C0152021") AnnotationAssertion( "Abnormality of cardiac morphology") -AnnotationAssertion(Annotation( ) "Abnormality of the heart") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped heart") +AnnotationAssertion(Annotation( ) "Abnormality of the heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped heart") AnnotationAssertion( "Cardiac abnormality") AnnotationAssertion( "Cardiac anomalies") AnnotationAssertion( "Cardiac anomaly") AnnotationAssertion( "Congenital heart defect") AnnotationAssertion( "Congenital heart defects") -AnnotationAssertion(Annotation( ) "Heart defect") +AnnotationAssertion(Annotation( ) "Heart defect") AnnotationAssertion( "HP:0001627") AnnotationAssertion(rdfs:label "Abnormal heart morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -35943,7 +35936,7 @@ AnnotationAssertion( "SNOMEDCT_US:253549006") AnnotationAssertion( "SNOMEDCT_US:30288003") AnnotationAssertion( "UMLS:C0018818") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Hole in heart wall separating two lower heart chambers") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Hole in heart wall separating two lower heart chambers") AnnotationAssertion(Annotation( ) "VSD") AnnotationAssertion( "Ventricular septal defects") AnnotationAssertion( "Ventriculoseptal defect") @@ -35964,12 +35957,12 @@ AnnotationAssertion( "SNOMEDCT_US:70142008") AnnotationAssertion( "UMLS:C0018817") AnnotationAssertion(Annotation( ) Annotation( ) "ASD") -AnnotationAssertion(Annotation( ) Annotation( ) "An opening in the wall separating the top two chambers of the heart") +AnnotationAssertion(Annotation( ) Annotation( ) "An opening in the wall separating the top two chambers of the heart") AnnotationAssertion( "Atria septal defect") AnnotationAssertion( "Atrial septum defect") AnnotationAssertion( "Atrioseptal defect") AnnotationAssertion( "Defect in the atrial septum") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Hole in heart wall separating two upper heart chambers") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Hole in heart wall separating two upper heart chambers") AnnotationAssertion( "HP:0001631") AnnotationAssertion(rdfs:label "Atrial septal defect") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -36011,11 +36004,11 @@ AnnotationAssertion( "UMLS:C0018801") AnnotationAssertion( "UMLS:C0018802") AnnotationAssertion(Annotation( ) "CHF") -AnnotationAssertion(Annotation( ) "Cardiac failure") -AnnotationAssertion(Annotation( ) Annotation( ) "Cardiac failures") +AnnotationAssertion(Annotation( ) "Cardiac failure") +AnnotationAssertion(Annotation( ) Annotation( ) "Cardiac failures") AnnotationAssertion( "Cardiac insufficiency") AnnotationAssertion( "Chronic heart failure") -AnnotationAssertion(Annotation( ) "Heart failure") +AnnotationAssertion(Annotation( ) "Heart failure") AnnotationAssertion( "HP:0001635") AnnotationAssertion(rdfs:label "Congestive heart failure") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -36052,7 +36045,7 @@ AnnotationAssertion( "SNOMEDCT_US:57809008") AnnotationAssertion( "SNOMEDCT_US:85898001") AnnotationAssertion( "UMLS:C0878544") -AnnotationAssertion(Annotation( ) Annotation( ) "Disease of the heart muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Disease of the heart muscle") AnnotationAssertion( "HP:0001638") AnnotationAssertion(rdfs:label "Cardiomyopathy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -36066,7 +36059,7 @@ AnnotationAssertion( "SNOMEDCT_US:45227007") AnnotationAssertion( "UMLS:C0007194") AnnotationAssertion( "Cardiomyopathy, hypertrophic") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged and thickened heart muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged and thickened heart muscle") AnnotationAssertion(Annotation( ) "HCM") AnnotationAssertion( "HP:0001639") AnnotationAssertion(rdfs:label "Hypertrophic cardiomyopathy") @@ -36078,8 +36071,8 @@ AnnotationAssertion(Annotation( "MSH:D006332") AnnotationAssertion( "SNOMEDCT_US:8186001") AnnotationAssertion( "UMLS:C0018800") -AnnotationAssertion(Annotation( ) "Enlarged heart") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased heart size") +AnnotationAssertion(Annotation( ) "Enlarged heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased heart size") AnnotationAssertion( "HP:0001640") AnnotationAssertion(rdfs:label "Cardiomegaly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -36106,7 +36099,7 @@ AnnotationAssertion( "MSH:D011666") AnnotationAssertion( "SNOMEDCT_US:56786000") AnnotationAssertion( "UMLS:C1956257") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of pulmonic valve") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of pulmonic valve") AnnotationAssertion( "Pulmonary stenosis") AnnotationAssertion( "Pulmonary valve stenosis") AnnotationAssertion( "Pulmonic valve stenosis") @@ -36147,7 +36140,7 @@ AnnotationAssertion( "Cardiomyopathy, dilated") AnnotationAssertion( "Congestive cardiomyopathy") AnnotationAssertion(Annotation( ) "DCM") -AnnotationAssertion(Annotation( ) Annotation( ) "Stretched and thinned heart muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Stretched and thinned heart muscle") AnnotationAssertion( "HP:0001644") AnnotationAssertion(rdfs:label "Dilated cardiomyopathy") SubClassOf( ) @@ -36159,8 +36152,8 @@ AnnotationAssertion( "MSH:D016757") AnnotationAssertion( "SNOMEDCT_US:95281009") AnnotationAssertion( "UMLS:C0085298") -AnnotationAssertion(Annotation( ) "Premature sudden cardiac death") -AnnotationAssertion(Annotation( ) "Sudden cardiac death") +AnnotationAssertion(Annotation( ) "Premature sudden cardiac death") +AnnotationAssertion(Annotation( ) "Sudden cardiac death") AnnotationAssertion( "HP:0001645") AnnotationAssertion(rdfs:label "Sudden cardiac death") SubClassOf( ) @@ -36185,7 +36178,7 @@ AnnotationAssertion(Annotation( "MSH:C562388") AnnotationAssertion( "SNOMEDCT_US:72352009") AnnotationAssertion( "UMLS:C0149630") -AnnotationAssertion(Annotation( ) Annotation( ) "Aortic valve has two leaflets rather than three") +AnnotationAssertion(Annotation( ) Annotation( ) "Aortic valve has two leaflets rather than three") AnnotationAssertion( "HP:0001647") AnnotationAssertion(rdfs:comment "A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036].") AnnotationAssertion(rdfs:label "Bicuspid aortic valve") @@ -36214,12 +36207,12 @@ AnnotationAssertion( "SNOMEDCT_US:86651002") AnnotationAssertion( "UMLS:C0039231") AnnotationAssertion( "UMLS:C4020868") -AnnotationAssertion(Annotation( ) "Fast heart rate") -AnnotationAssertion(Annotation( ) "Heart racing") -AnnotationAssertion(Annotation( ) "Racing heart") -AnnotationAssertion(Annotation( ) "Elevated heart rate") -AnnotationAssertion(Annotation( ) "Increased heart rate") -AnnotationAssertion(Annotation( ) "Rapid heart beat") +AnnotationAssertion(Annotation( ) "Fast heart rate") +AnnotationAssertion(Annotation( ) "Heart racing") +AnnotationAssertion(Annotation( ) "Racing heart") +AnnotationAssertion(Annotation( ) "Elevated heart rate") +AnnotationAssertion(Annotation( ) "Increased heart rate") +AnnotationAssertion(Annotation( ) "Rapid heart beat") AnnotationAssertion( "HP:0001649") AnnotationAssertion(rdfs:label "Tachycardia") SubClassOf( ) @@ -36234,7 +36227,7 @@ AnnotationAssertion( "SNOMEDCT_US:60573004") AnnotationAssertion( "UMLS:C0003507") AnnotationAssertion( "Aortic stenosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of aortic valve") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of aortic valve") AnnotationAssertion( "Valvular aortic stenosis") AnnotationAssertion( "HP:0001650") AnnotationAssertion(rdfs:comment "Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance.") @@ -36252,7 +36245,7 @@ AnnotationAssertion( "MSH:D003914") AnnotationAssertion( "SNOMEDCT_US:27637000") AnnotationAssertion( "UMLS:C0011813") -AnnotationAssertion(Annotation( ) Annotation( ) "Heart tip and four chambers point towards right side of body") +AnnotationAssertion(Annotation( ) Annotation( ) "Heart tip and four chambers point towards right side of body") AnnotationAssertion( "Thoracic situs inversus") AnnotationAssertion( "HP:0001651") AnnotationAssertion(rdfs:label "Dextrocardia") @@ -36328,7 +36321,7 @@ AnnotationAssertion(Annotation( "MSH:D009203") AnnotationAssertion( "SNOMEDCT_US:22298006") AnnotationAssertion( "UMLS:C0027051") -AnnotationAssertion(Annotation( ) Annotation( ) "Heart attack") +AnnotationAssertion(Annotation( ) Annotation( ) "Heart attack") AnnotationAssertion(Annotation( ) "MI") AnnotationAssertion( "HP:0001658") AnnotationAssertion(rdfs:label "Myocardial infarction") @@ -36370,7 +36363,7 @@ AnnotationAssertion( "SNOMEDCT_US:48867003") AnnotationAssertion( "UMLS:C0428977") AnnotationAssertion( "Brachycardia") -AnnotationAssertion(Annotation( ) "Slow heartbeats") +AnnotationAssertion(Annotation( ) "Slow heartbeats") AnnotationAssertion( "HP:0001662") AnnotationAssertion(rdfs:label "Bradycardia") SubClassOf( ) @@ -36497,7 +36490,7 @@ AnnotationAssertion( "UMLS:C1956346") AnnotationAssertion( "Coronary atherosclerosis") AnnotationAssertion( "Coronary disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in arteries supplying blood to heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in arteries supplying blood to heart") AnnotationAssertion( "HP:0001677") AnnotationAssertion(rdfs:comment "Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction.") AnnotationAssertion(rdfs:label "Coronary artery atherosclerosis") @@ -36515,7 +36508,7 @@ AnnotationAssertion( "SNOMEDCT_US:233917008") AnnotationAssertion( "UMLS:C0004245") AnnotationAssertion( "UMLS:C1841659") -AnnotationAssertion(Annotation( ) Annotation( ) "Interruption of electrical communication between upper and lower chambers of heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Interruption of electrical communication between upper and lower chambers of heart") AnnotationAssertion( "Atrioventricular nodal disease") AnnotationAssertion( "HP:0001678") AnnotationAssertion(rdfs:label "Atrioventricular block") @@ -36544,8 +36537,8 @@ AnnotationAssertion( "UMLS:C0003492") AnnotationAssertion( "Aortic coarctation") AnnotationAssertion( "Coarctation of the aorta") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of aorta") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the aorta") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of aorta") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the aorta") AnnotationAssertion( "HP:0001680") AnnotationAssertion(rdfs:comment "Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient.") AnnotationAssertion(rdfs:label "Coarctation of aorta") @@ -36569,7 +36562,7 @@ AnnotationAssertion(Annotation( "MSH:D001020") AnnotationAssertion( "SNOMEDCT_US:204368006") AnnotationAssertion( "UMLS:C0340375") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of blood vessel below aortic heart valve") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of blood vessel below aortic heart valve") AnnotationAssertion( "Subaortic stenosis") AnnotationAssertion( "HP:0001682") AnnotationAssertion(rdfs:comment "Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta.") @@ -36683,7 +36676,7 @@ AnnotationAssertion( "SNOMEDCT_US:397829000") AnnotationAssertion( "SNOMEDCT_US:410429000") AnnotationAssertion( "UMLS:C0018790") -AnnotationAssertion(Annotation( ) Annotation( ) "Heart stops beating") +AnnotationAssertion(Annotation( ) Annotation( ) "Heart stops beating") AnnotationAssertion( "HP:0001695") AnnotationAssertion(rdfs:label "Cardiac arrest") SubClassOf( ) @@ -36701,7 +36694,7 @@ AnnotationAssertion( "SNOMEDCT_US:43876007") AnnotationAssertion( "UMLS:C0037221") AnnotationAssertion( "UMLS:C0266642") -AnnotationAssertion(Annotation( ) Annotation( ) "All organs on wrong side of body") +AnnotationAssertion(Annotation( ) Annotation( ) "All organs on wrong side of body") AnnotationAssertion( "situs oppositus") AnnotationAssertion( "situs transversus") AnnotationAssertion( "Situs inversus") @@ -36728,7 +36721,7 @@ AnnotationAssertion( "MSH:D010490") AnnotationAssertion( "SNOMEDCT_US:373945007") AnnotationAssertion( "UMLS:C0031039") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid around heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid around heart") AnnotationAssertion( "Pericardial effusions") AnnotationAssertion( "HP:0001698") AnnotationAssertion(rdfs:label "Pericardial effusion") @@ -36760,7 +36753,7 @@ AnnotationAssertion(Annotation( "MSH:D010493") AnnotationAssertion( "SNOMEDCT_US:3238004") AnnotationAssertion( "UMLS:C0031046") -AnnotationAssertion(Annotation( ) Annotation( ) "Swelling or irritation of membrane around heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Swelling or irritation of membrane around heart") AnnotationAssertion( "HP:0001701") AnnotationAssertion(rdfs:label "Pericarditis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -36845,7 +36838,7 @@ SubClassOf( "PMID:21841933") "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.") AnnotationAssertion( "SNOMEDCT_US:27885002") AnnotationAssertion( "UMLS:C0151517") -AnnotationAssertion(Annotation( ) "Complete heart block") +AnnotationAssertion(Annotation( ) "Complete heart block") AnnotationAssertion( "Third-degree heart block") AnnotationAssertion( "HP:0001709") AnnotationAssertion(rdfs:label "Third degree atrioventricular block") @@ -37025,8 +37018,8 @@ AnnotationAssertion( "SNOMEDCT_US:3855007") AnnotationAssertion( "UMLS:C0030286") AnnotationAssertion( "UMLS:C4025751") -AnnotationAssertion(Annotation( ) "Abnormality of the pancreas") -AnnotationAssertion(Annotation( ) "Pancreatic disease") +AnnotationAssertion(Annotation( ) "Abnormality of the pancreas") +AnnotationAssertion(Annotation( ) "Pancreatic disease") AnnotationAssertion( "HP:0001732") AnnotationAssertion(rdfs:label "Abnormality of the pancreas") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37038,7 +37031,7 @@ AnnotationAssertion(Annotation( "MSH:D010195") AnnotationAssertion( "SNOMEDCT_US:75694006") AnnotationAssertion( "UMLS:C0030305") -AnnotationAssertion(Annotation( ) Annotation( ) "Pancreatic inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Pancreatic inflammation") AnnotationAssertion( "HP:0001733") AnnotationAssertion(rdfs:label "Pancreatitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -37061,7 +37054,7 @@ AnnotationAssertion(Annotation( "HP:0004512") AnnotationAssertion( "SNOMEDCT_US:197456007") AnnotationAssertion( "UMLS:C0001339") -AnnotationAssertion(Annotation( ) Annotation( ) "Acute pancreatic inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Acute pancreatic inflammation") AnnotationAssertion( "Pancreatitis, acute") AnnotationAssertion( "HP:0001735") AnnotationAssertion(rdfs:label "Acute pancreatitis") @@ -37075,9 +37068,9 @@ AnnotationAssertion( "SNOMEDCT_US:31258000") AnnotationAssertion( "UMLS:C0030283") AnnotationAssertion( "UMLS:C1860394") -AnnotationAssertion(Annotation( ) "Pancreatic cysts") -AnnotationAssertion(Annotation( ) "Multiple pancreatic cysts") -AnnotationAssertion(Annotation( ) "Pancreatic cyst") +AnnotationAssertion(Annotation( ) "Pancreatic cysts") +AnnotationAssertion(Annotation( ) "Multiple pancreatic cysts") +AnnotationAssertion(Annotation( ) "Pancreatic cyst") AnnotationAssertion( "HP:0001737") AnnotationAssertion(rdfs:comment "Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium.") AnnotationAssertion(rdfs:label "Pancreatic cysts") @@ -37095,7 +37088,7 @@ AnnotationAssertion( "SNOMEDCT_US:47367009") AnnotationAssertion( "UMLS:C0030293") AnnotationAssertion( "UMLS:C0267963") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to properly digest food due to lack of pancreatic digestive enzymes") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to properly digest food due to lack of pancreatic digestive enzymes") AnnotationAssertion( "Pancreatic insufficiency") AnnotationAssertion( "HP:0001738") AnnotationAssertion(rdfs:label "Exocrine pancreatic insufficiency") @@ -37132,12 +37125,12 @@ AnnotationAssertion( "SNOMEDCT_US:68235000") AnnotationAssertion( "UMLS:C0027424") AnnotationAssertion( "UMLS:C0027429") -AnnotationAssertion(Annotation( ) Annotation( ) "Blockage of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal blockage") -AnnotationAssertion(Annotation( ) "Nasal obstruction") -AnnotationAssertion(Annotation( ) Annotation( ) "Obstruction of nose") -AnnotationAssertion(Annotation( "http://www.entnet.org/content/stuffy-nose") Annotation( ) "Stuffy nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Congestion of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Blockage of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal blockage") +AnnotationAssertion(Annotation( ) "Nasal obstruction") +AnnotationAssertion(Annotation( ) Annotation( ) "Obstruction of nose") +AnnotationAssertion(Annotation( "http://www.entnet.org/content/stuffy-nose") Annotation( ) "Stuffy nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Congestion of nose") AnnotationAssertion( "HP:0001742") AnnotationAssertion(rdfs:label "Nasal congestion") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37147,7 +37140,7 @@ SubClassOf( ) "An abnormality of the spleen.") AnnotationAssertion( "UMLS:C4025749") -AnnotationAssertion(Annotation( ) "Abnormality of the spleen") +AnnotationAssertion(Annotation( ) "Abnormality of the spleen") AnnotationAssertion( "HP:0001743") AnnotationAssertion(rdfs:comment "The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system.") AnnotationAssertion(rdfs:label "Abnormality of the spleen") @@ -37163,7 +37156,7 @@ AnnotationAssertion( "MSH:D013163") AnnotationAssertion( "SNOMEDCT_US:16294009") AnnotationAssertion( "UMLS:C0038002") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased spleen size") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased spleen size") AnnotationAssertion( "HP:0001744") AnnotationAssertion(rdfs:label "Splenomegaly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37178,7 +37171,7 @@ AnnotationAssertion( "SNOMEDCT_US:707147002") AnnotationAssertion( "SNOMEDCT_US:93030006") AnnotationAssertion( "UMLS:C0600031") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent spleen") AnnotationAssertion( "HP:0001746") AnnotationAssertion(rdfs:label "Asplenia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37203,7 +37196,7 @@ AnnotationAssertion( "UMLS:C1856659") AnnotationAssertion( "Accessory spleens") AnnotationAssertion( "Multiple accessory spleens") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple small spleens") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple small spleens") AnnotationAssertion( "HP:0001748") AnnotationAssertion(rdfs:label "Polysplenia") SubClassOf( ) @@ -37269,11 +37262,11 @@ AnnotationAssertion( "MSH:D005530") AnnotationAssertion( "SNOMEDCT_US:229844004") AnnotationAssertion( "UMLS:C0016506") -AnnotationAssertion(Annotation( ) "Abnormal feet structure") -AnnotationAssertion(Annotation( ) "Abnormality of the feet") -AnnotationAssertion(Annotation( ) "Abnormality of the foot") -AnnotationAssertion(Annotation( ) "Foot deformities") -AnnotationAssertion(Annotation( ) "Foot deformity") +AnnotationAssertion(Annotation( ) "Abnormal feet structure") +AnnotationAssertion(Annotation( ) "Abnormality of the feet") +AnnotationAssertion(Annotation( ) "Abnormality of the foot") +AnnotationAssertion(Annotation( ) "Foot deformities") +AnnotationAssertion(Annotation( ) "Foot deformity") AnnotationAssertion( "HP:0001760") AnnotationAssertion(rdfs:comment "A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others.") AnnotationAssertion(rdfs:label "Abnormal foot morphology") @@ -37288,7 +37281,7 @@ AnnotationAssertion(Annotation(rdfs:label "Pes cavus") "SNOMEDCT_US:205091006") AnnotationAssertion( "UMLS:C0728829") AnnotationAssertion( "Cavus foot") -AnnotationAssertion(Annotation( ) Annotation( ) "High-arched foot") +AnnotationAssertion(Annotation( ) Annotation( ) "High-arched foot") AnnotationAssertion( "HP:0001761") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pes cavus") @@ -37304,11 +37297,11 @@ AnnotationAssertion( "SNOMEDCT_US:249808002") AnnotationAssertion( "SNOMEDCT_US:397932003") AnnotationAssertion( "UMLS:C0009081") -AnnotationAssertion(Annotation( ) "Club feet") -AnnotationAssertion(Annotation( ) "Club foot") +AnnotationAssertion(Annotation( ) "Club feet") +AnnotationAssertion(Annotation( ) "Club foot") AnnotationAssertion( "Clubbing of feet") -AnnotationAssertion(Annotation( ) "Clubfeet") -AnnotationAssertion(Annotation( ) "Clubfoot") +AnnotationAssertion(Annotation( ) "Clubfeet") +AnnotationAssertion(Annotation( ) "Clubfoot") AnnotationAssertion( "Equinovarus") AnnotationAssertion( "Foot, talipes equinovarus") AnnotationAssertion( "Pes equinovarus") @@ -37328,10 +37321,10 @@ AnnotationAssertion( "SNOMEDCT_US:53226007") AnnotationAssertion( "UMLS:C0016202") AnnotationAssertion( "UMLS:C0264133") -AnnotationAssertion(Annotation( ) "Flat feet") -AnnotationAssertion(Annotation( ) "Flat foot") -AnnotationAssertion(Annotation( ) "Dropped arches") -AnnotationAssertion(Annotation( ) "Fallen arches") +AnnotationAssertion(Annotation( ) "Flat feet") +AnnotationAssertion(Annotation( ) "Flat foot") +AnnotationAssertion(Annotation( ) "Dropped arches") +AnnotationAssertion(Annotation( ) "Fallen arches") AnnotationAssertion( "HP:0001763") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pes planus") @@ -37344,9 +37337,9 @@ AnnotationAssertion(Annotation( "MSH:D037801") AnnotationAssertion( "SNOMEDCT_US:122481008") AnnotationAssertion( "UMLS:C1136179") -AnnotationAssertion(Annotation( ) "Hammer toe") -AnnotationAssertion(Annotation( ) "Hammertoe") -AnnotationAssertion(Annotation( ) "Hammertoes") +AnnotationAssertion(Annotation( ) "Hammer toe") +AnnotationAssertion(Annotation( ) "Hammertoe") +AnnotationAssertion(Annotation( ) "Hammertoes") AnnotationAssertion( "HP:0001765") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hammertoe") @@ -37356,9 +37349,9 @@ SubClassOf( "PMID:19125433") "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.") AnnotationAssertion( "UMLS:C1866241") -AnnotationAssertion(Annotation( ) "Broad feet") -AnnotationAssertion(Annotation( ) "Broad foot") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide foot") +AnnotationAssertion(Annotation( ) "Broad feet") +AnnotationAssertion(Annotation( ) "Broad foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide foot") AnnotationAssertion( "HP:0001769") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Broad foot") @@ -37373,10 +37366,10 @@ AnnotationAssertion( "SNOMEDCT_US:32113001") AnnotationAssertion( "UMLS:C0265660") AnnotationAssertion(Annotation( ) "Foot syndactyly") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused toes") AnnotationAssertion( "Syndactyly of feet") AnnotationAssertion( "Syndactyly of toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed toes") AnnotationAssertion( "HP:0001770") AnnotationAssertion(rdfs:label "Toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37393,8 +37386,8 @@ AnnotationAssertion( "UMLS:C0410264") AnnotationAssertion(Annotation( ) "Achilles tendon contractures") AnnotationAssertion( "Contractures of the Achilles tendon") -AnnotationAssertion(Annotation( ) "Shortening of the achilles tendon") -AnnotationAssertion(Annotation( ) "Tight achilles tendon") +AnnotationAssertion(Annotation( ) "Shortening of the achilles tendon") +AnnotationAssertion(Annotation( ) "Tight achilles tendon") AnnotationAssertion( "HP:0001771") AnnotationAssertion(rdfs:label "Achilles tendon contracture") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37422,9 +37415,9 @@ AnnotationAssertion( "HP:0008135") AnnotationAssertion( "UMLS:C1848673") AnnotationAssertion( "Hypoplastic feet") -AnnotationAssertion(Annotation( ) "Short feet") -AnnotationAssertion(Annotation( ) "Short foot") -AnnotationAssertion(Annotation( ) "Small feet") +AnnotationAssertion(Annotation( ) "Short feet") +AnnotationAssertion(Annotation( ) "Short foot") +AnnotationAssertion(Annotation( ) "Small feet") AnnotationAssertion( "HP:0001773") AnnotationAssertion(rdfs:label "Short foot") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37443,7 +37436,7 @@ AnnotationAssertion(Annotation( "UMLS:C1837835") AnnotationAssertion( "Bilateral clubfeet") AnnotationAssertion( "Bilateral clubfoot") -AnnotationAssertion(Annotation( ) "Club foot on both sides") +AnnotationAssertion(Annotation( ) "Club foot on both sides") AnnotationAssertion( "HP:0001776") AnnotationAssertion(rdfs:label "Bilateral talipes equinovarus") SubClassOf( ) @@ -37452,8 +37445,8 @@ SubClassOf( ) "An anomaly of a toe.") AnnotationAssertion( "UMLS:C2674738") -AnnotationAssertion(Annotation( ) "Abnormalities of the toes") -AnnotationAssertion(Annotation( ) "Abnormality of toe") +AnnotationAssertion(Annotation( ) "Abnormalities of the toes") +AnnotationAssertion(Annotation( ) "Abnormality of toe") AnnotationAssertion( "HP:0001780") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal toe morphology") @@ -37477,7 +37470,7 @@ AnnotationAssertion( "HP:0008106") AnnotationAssertion( "UMLS:C1842231") AnnotationAssertion( "UMLS:C1850161") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bone of foot") AnnotationAssertion( "Broad metatarsals") AnnotationAssertion( "Widened metatarsal shaft") AnnotationAssertion( "HP:0001783") @@ -37490,7 +37483,7 @@ SubClassOf( "SNOMEDCT_US:26237000") AnnotationAssertion( "SNOMEDCT_US:267039000") AnnotationAssertion( "UMLS:C0235439") -AnnotationAssertion(Annotation( ) "Ankle swelling") +AnnotationAssertion(Annotation( ) "Ankle swelling") AnnotationAssertion( "HP:0001785") AnnotationAssertion(rdfs:label "Ankle swelling") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37501,8 +37494,8 @@ SubClassOf( "PMID:19125433") "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.") AnnotationAssertion( "SNOMEDCT_US:299464006") AnnotationAssertion( "UMLS:C0576227") -AnnotationAssertion(Annotation( ) "Narrow foot") -AnnotationAssertion(Annotation( ) "Slender feet") +AnnotationAssertion(Annotation( ) "Narrow foot") +AnnotationAssertion(Annotation( ) "Slender feet") AnnotationAssertion( "HP:0001786") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Narrow foot") @@ -37514,8 +37507,8 @@ SubClassOf( ) "An abnormality of the birth process.") AnnotationAssertion( "SNOMEDCT_US:274127000") AnnotationAssertion( "UMLS:C0549629") -AnnotationAssertion(Annotation( ) "Abnormal delivery") -AnnotationAssertion(Annotation( ) "Delivery complication") +AnnotationAssertion(Annotation( ) "Abnormal delivery") +AnnotationAssertion(Annotation( ) "Delivery complication") AnnotationAssertion( "HP:0001787") AnnotationAssertion(rdfs:label "Abnormal delivery") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37584,8 +37577,8 @@ AnnotationAssertion( "Hypoplastic nail") AnnotationAssertion( "Hypoplastic nails") AnnotationAssertion( "Nail hypoplasia") -AnnotationAssertion(Annotation( ) "Small nail") -AnnotationAssertion(Annotation( ) "Small nails") +AnnotationAssertion(Annotation( ) "Small nail") +AnnotationAssertion(Annotation( ) "Small nails") AnnotationAssertion( "HP:0001792") AnnotationAssertion(rdfs:label "Small nail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37597,8 +37590,8 @@ AnnotationAssertion(Annotation( "HP:0008413") AnnotationAssertion( "SNOMEDCT_US:247487009") AnnotationAssertion( "UMLS:C0423807") -AnnotationAssertion(Annotation( ) "Increased nail curvature") -AnnotationAssertion(Annotation( ) "Nail overcurvature") +AnnotationAssertion(Annotation( ) "Increased nail curvature") +AnnotationAssertion(Annotation( ) "Nail overcurvature") AnnotationAssertion( "HP:0001795") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified.") @@ -37613,8 +37606,8 @@ AnnotationAssertion( "MSH:C536377") AnnotationAssertion( "SNOMEDCT_US:23610003") AnnotationAssertion( "UMLS:C0265998") -AnnotationAssertion(Annotation( ) "Absent nails") -AnnotationAssertion(Annotation( ) "Aplastic nails") +AnnotationAssertion(Annotation( ) "Absent nails") +AnnotationAssertion(Annotation( ) "Aplastic nails") AnnotationAssertion( "HP:0001798") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Total absence of nails.") @@ -37628,8 +37621,8 @@ AnnotationAssertion(Annotation( "HP:0200075") AnnotationAssertion( "SNOMEDCT_US:247488004") AnnotationAssertion( "UMLS:C0423808") -AnnotationAssertion(Annotation( ) "Short nail") -AnnotationAssertion(Annotation( ) Annotation( ) "Short nails") +AnnotationAssertion(Annotation( ) "Short nail") +AnnotationAssertion(Annotation( ) Annotation( ) "Short nails") AnnotationAssertion( "HP:0001799") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Use this designation when the length is reduced but the width is normal.") @@ -37641,7 +37634,7 @@ SubClassOf( ) "Underdevelopment of the toenail.") AnnotationAssertion( "UMLS:C1837279") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped toenails") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped toenails") AnnotationAssertion( "HP:0001800") AnnotationAssertion(rdfs:label "Hypoplastic toenails") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37652,8 +37645,8 @@ SubClassOf( ) "Congenital absence of the toenail.") AnnotationAssertion( "UMLS:C1844555") -AnnotationAssertion(Annotation( ) "Absent toenail") -AnnotationAssertion(Annotation( ) "Absent toenails") +AnnotationAssertion(Annotation( ) "Absent toenail") +AnnotationAssertion(Annotation( ) "Absent toenails") AnnotationAssertion(Annotation( ) "Absent toenails (anonychia)") AnnotationAssertion(Annotation( ) "Anonychia of toenails") AnnotationAssertion( "HP:0001802") @@ -37669,9 +37662,9 @@ AnnotationAssertion(Annotation( "MEDDRA:10028702") AnnotationAssertion( "SNOMEDCT_US:89704006") AnnotationAssertion( "UMLS:C0150993") -AnnotationAssertion(Annotation( ) "Nail pits") -AnnotationAssertion(Annotation( ) "Nail pitting") -AnnotationAssertion(Annotation( ) "Pitted nails") +AnnotationAssertion(Annotation( ) "Nail pits") +AnnotationAssertion(Annotation( ) "Nail pitting") +AnnotationAssertion(Annotation( ) "Pitted nails") AnnotationAssertion( "HP:0001803") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Nail pits") @@ -37681,8 +37674,8 @@ SubClassOf( ) "Underdevelopment of a fingernail.") AnnotationAssertion( "UMLS:C1856786") -AnnotationAssertion(Annotation( ) Annotation( ) "Small fingernail") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail") +AnnotationAssertion(Annotation( ) Annotation( ) "Small fingernail") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail") AnnotationAssertion( "HP:0001804") AnnotationAssertion(rdfs:label "Hypoplastic fingernail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37697,8 +37690,8 @@ AnnotationAssertion( "SNOMEDCT_US:52897009") AnnotationAssertion( "UMLS:C0263537") AnnotationAssertion( "Dystrophic thickened nails") -AnnotationAssertion(Annotation( ) "Thick nail") -AnnotationAssertion(Annotation( ) "Thickened nails") +AnnotationAssertion(Annotation( ) "Thick nail") +AnnotationAssertion(Annotation( ) "Thickened nails") AnnotationAssertion( "HP:0001805") AnnotationAssertion(rdfs:comment "There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity.") AnnotationAssertion(rdfs:label "Onychogryposis") @@ -37712,7 +37705,7 @@ AnnotationAssertion(Annotation(rdfs:label "Onycholysis") "MSH:D054039") AnnotationAssertion( "SNOMEDCT_US:75789001") AnnotationAssertion( "UMLS:C0085661") -AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of nail") +AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of nail") AnnotationAssertion( "Oncholysis") AnnotationAssertion( "HP:0001806") AnnotationAssertion( ) @@ -37727,10 +37720,10 @@ AnnotationAssertion( "HP:0001811") AnnotationAssertion( "SNOMEDCT_US:271768001") AnnotationAssertion( "UMLS:C0423820") -AnnotationAssertion(Annotation( ) "Grooved nails") +AnnotationAssertion(Annotation( ) "Grooved nails") AnnotationAssertion( "Longitudinal ridging") -AnnotationAssertion(Annotation( ) "Nail ridging") -AnnotationAssertion(Annotation( ) Annotation( ) "Ridged nails") +AnnotationAssertion(Annotation( ) "Nail ridging") +AnnotationAssertion(Annotation( ) Annotation( ) "Ridged nails") AnnotationAssertion( "HP:0001807") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "There may be only one, or several ridges. The affected digits should be specified.") @@ -37742,7 +37735,7 @@ SubClassOf( ) "Nails that easily break.") AnnotationAssertion( "HP:0001796") AnnotationAssertion( "UMLS:C1856963") -AnnotationAssertion(Annotation( ) "Brittle nails") +AnnotationAssertion(Annotation( ) "Brittle nails") AnnotationAssertion( "HP:0001808") AnnotationAssertion(rdfs:label "Fragile nails") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37753,7 +37746,7 @@ SubClassOf( "PMID:19125433") "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.") AnnotationAssertion( "SNOMEDCT_US:85136002") AnnotationAssertion( "UMLS:C0263530") -AnnotationAssertion(Annotation( ) "Longitudinal splitting of nail") +AnnotationAssertion(Annotation( ) "Longitudinal splitting of nail") AnnotationAssertion( "HP:0001809") AnnotationAssertion(rdfs:comment "This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments.") AnnotationAssertion(rdfs:label "Split nail") @@ -37766,7 +37759,7 @@ AnnotationAssertion(Annotation( "HP:0007558") AnnotationAssertion( "UMLS:C1833225") AnnotationAssertion( "Dystrophic toenail changes") -AnnotationAssertion(Annotation( ) Annotation( "http://naildystrophy.com/") Annotation( ) "Poor toenail formation") +AnnotationAssertion(Annotation( ) Annotation( "http://naildystrophy.com/") Annotation( ) "Poor toenail formation") AnnotationAssertion( "Dystrophic toenails") AnnotationAssertion( "HP:0001810") AnnotationAssertion(rdfs:label "Dystrophic toenail") @@ -37788,7 +37781,7 @@ SubClassOf( ) "Deeply placed nails.") AnnotationAssertion( "UMLS:C3277753") -AnnotationAssertion(Annotation( ) "Deep-set nails") +AnnotationAssertion(Annotation( ) "Deep-set nails") AnnotationAssertion( "HP:0001814") AnnotationAssertion(rdfs:label "Deep-set nails") SubClassOf( ) @@ -37798,8 +37791,8 @@ SubClassOf( ) Annotation( "PMID:19125433") "Nail that appears thin when viewed on end.") AnnotationAssertion( "SNOMEDCT_US:63829008") AnnotationAssertion( "UMLS:C0423823") -AnnotationAssertion(Annotation( ) "Thin nail") -AnnotationAssertion(Annotation( ) "Thin nails") +AnnotationAssertion(Annotation( ) "Thin nail") +AnnotationAssertion(Annotation( ) "Thin nails") AnnotationAssertion( "HP:0001816") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified.") @@ -37811,7 +37804,7 @@ SubClassOf( ) "Absence of a fingernail.") AnnotationAssertion( "UMLS:C1844554") -AnnotationAssertion(Annotation( ) "Absent fingernail") +AnnotationAssertion(Annotation( ) "Absent fingernail") AnnotationAssertion( "Aplasia of the fingernail") AnnotationAssertion(Annotation( ) "Anonychia of fingernails") AnnotationAssertion( "HP:0001817") @@ -37838,7 +37831,7 @@ AnnotationAssertion(Annotation( "MEDDRA:10050658") AnnotationAssertion( "SNOMEDCT_US:111202002") AnnotationAssertion( "UMLS:C0240182") -AnnotationAssertion(Annotation( ) Annotation( ) "White discoloration of nails") +AnnotationAssertion(Annotation( ) Annotation( ) "White discoloration of nails") AnnotationAssertion( "HP:0001820") AnnotationAssertion(rdfs:label "Leukonychia") SubClassOf( ) @@ -37848,9 +37841,9 @@ SubClassOf( ) "Increased width of nail.") AnnotationAssertion( "HP:0008406") AnnotationAssertion( "UMLS:C1843112") -AnnotationAssertion(Annotation( ) "Broad fingernails") -AnnotationAssertion(Annotation( ) "Broad nail") -AnnotationAssertion(Annotation( ) "Wide fingernails") +AnnotationAssertion(Annotation( ) "Broad fingernails") +AnnotationAssertion(Annotation( ) "Broad nail") +AnnotationAssertion(Annotation( ) "Wide fingernails") AnnotationAssertion( "HP:0001821") AnnotationAssertion(rdfs:label "Broad nail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37866,7 +37859,7 @@ AnnotationAssertion( "SNOMEDCT_US:415692008") AnnotationAssertion( "UMLS:C0006386") AnnotationAssertion( "UMLS:C0018536") -AnnotationAssertion(Annotation( ) Annotation( ) "Bunion") +AnnotationAssertion(Annotation( ) Annotation( ) "Bunion") AnnotationAssertion( "Lateral deviation of great toe") AnnotationAssertion( "Lateral deviation of halluces") AnnotationAssertion( "HP:0001822") @@ -37906,7 +37899,7 @@ AnnotationAssertion(Annotation( "HP:0009135") AnnotationAssertion( "SNOMEDCT_US:62218008") AnnotationAssertion( "UMLS:C0158734") -AnnotationAssertion(Annotation( ) "Duplication of bones of the toes") +AnnotationAssertion(Annotation( ) "Duplication of bones of the toes") AnnotationAssertion( "Polydactyly of feet") AnnotationAssertion( "Polydactyly of the foot") AnnotationAssertion( "HP:0001829") @@ -37923,7 +37916,7 @@ AnnotationAssertion(Annotation( "HP:0010346") AnnotationAssertion( "UMLS:C2112129") AnnotationAssertion( "UMLS:C4020865") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra toe attached near the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra toe attached near the little toe") AnnotationAssertion( "Polydactyly affecting the 5th toe") AnnotationAssertion( "Postaxial polydactyly of feet") AnnotationAssertion( "Postaxial polydactyly of foot") @@ -37951,9 +37944,9 @@ AnnotationAssertion( "Hypoplasia of the toe") AnnotationAssertion( "Hypoplastic toes") AnnotationAssertion( "Short foot phalanges") -AnnotationAssertion(Annotation( ) "Short toe") -AnnotationAssertion(Annotation( ) "Short toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Stubby toes") +AnnotationAssertion(Annotation( ) "Short toe") +AnnotationAssertion(Annotation( ) "Short toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Stubby toes") AnnotationAssertion( "HP:0001831") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly.") @@ -37966,7 +37959,7 @@ SubClassOf( ) "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).") AnnotationAssertion( "UMLS:C4025745") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the long bone of foot") AnnotationAssertion( "HP:0001832") AnnotationAssertion(rdfs:label "Abnormal metatarsal morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -37980,10 +37973,10 @@ AnnotationAssertion( "HP:0008143") AnnotationAssertion( "SNOMEDCT_US:299462005") AnnotationAssertion( "UMLS:C0576225") -AnnotationAssertion(Annotation( ) "Disproportionately large feet") -AnnotationAssertion(Annotation( ) "Long foot") -AnnotationAssertion(Annotation( ) "large feet") -AnnotationAssertion(Annotation( ) "long feet") +AnnotationAssertion(Annotation( ) "Disproportionately large feet") +AnnotationAssertion(Annotation( ) "Long foot") +AnnotationAssertion(Annotation( ) "large feet") +AnnotationAssertion(Annotation( ) "long feet") AnnotationAssertion( "HP:0001833") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Long foot") @@ -38005,8 +37998,8 @@ SubClassOf( "PMID:19125433") "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.") AnnotationAssertion( "UMLS:C1865038") -AnnotationAssertion(Annotation( ) "Broad toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide toe") +AnnotationAssertion(Annotation( ) "Broad toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide toe") AnnotationAssertion( "HP:0001837") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.") @@ -38027,10 +38020,10 @@ AnnotationAssertion( "SNOMEDCT_US:205359003") AnnotationAssertion( "UMLS:C0240912") AnnotationAssertion( "Congenital vertical talus") -AnnotationAssertion(Annotation( ) "Rocker bottom feet") -AnnotationAssertion(Annotation( ) "Rocker bottom foot") -AnnotationAssertion(Annotation( ) "Rocker-bottom feet") -AnnotationAssertion(Annotation( ) "Rockerbottom feet") +AnnotationAssertion(Annotation( ) "Rocker bottom feet") +AnnotationAssertion(Annotation( ) "Rocker bottom foot") +AnnotationAssertion(Annotation( ) "Rocker-bottom feet") +AnnotationAssertion(Annotation( ) "Rockerbottom feet") AnnotationAssertion( "HP:0001838") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a \"reversed\" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis.") @@ -38046,9 +38039,9 @@ AnnotationAssertion( "SNOMEDCT_US:205358006") AnnotationAssertion( "UMLS:C0432028") AnnotationAssertion( "Foot ectrodactyly") -AnnotationAssertion(Annotation( ) "Lobster-claw foot deformity") -AnnotationAssertion(Annotation( ) "Split foot") -AnnotationAssertion(Annotation( ) "Split-foot") +AnnotationAssertion(Annotation( ) "Lobster-claw foot deformity") +AnnotationAssertion(Annotation( ) "Split foot") +AnnotationAssertion(Annotation( ) "Split-foot") AnnotationAssertion( "HP:0001839") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Split foot") @@ -38065,7 +38058,7 @@ AnnotationAssertion( "UMLS:C0231791") AnnotationAssertion( "UMLS:C4082169") AnnotationAssertion( "Forefoot varus") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Front half of foot turns inward") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Front half of foot turns inward") AnnotationAssertion( "Metatarsus adductovarsus") AnnotationAssertion( "Metatarsus varus") AnnotationAssertion( "Intoe") @@ -38111,7 +38104,7 @@ SubClassOf( ) "This term applies for all abnormalities of the big toe, also called hallux.") AnnotationAssertion( "UMLS:C4021773") AnnotationAssertion( "Abnormalities of the hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the big toe") AnnotationAssertion( "Abnormality of the hallux") AnnotationAssertion( "HP:0001844") AnnotationAssertion( ) @@ -38124,10 +38117,10 @@ SubClassOf( ) Annotation( "PMID:19125433") "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.") AnnotationAssertion( "SNOMEDCT_US:203541003") AnnotationAssertion( "UMLS:C0920299") -AnnotationAssertion(Annotation( ) "Overlapping toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Overlapping toes") -AnnotationAssertion(Annotation( ) "Overriding toes") -AnnotationAssertion(Annotation( ) "Crossover toe") +AnnotationAssertion(Annotation( ) "Overlapping toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Overlapping toes") +AnnotationAssertion(Annotation( ) "Overriding toes") +AnnotationAssertion(Annotation( ) "Crossover toe") AnnotationAssertion( "HP:0001845") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly.") @@ -38141,7 +38134,7 @@ AnnotationAssertion( "UMLS:C1864375") AnnotationAssertion( "Increased length of the hallux") AnnotationAssertion( "Large halluces") -AnnotationAssertion(Annotation( ) Annotation( ) "Long big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Long big toe") AnnotationAssertion( "Long halluces") AnnotationAssertion( "HP:0001847") AnnotationAssertion( ) @@ -38155,7 +38148,7 @@ SubClassOf( ) "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).") AnnotationAssertion( "HP:0001774") AnnotationAssertion( "HP:0008120") -AnnotationAssertion(Annotation( ) Annotation( ) "Foot and ankle bend up toward shin of leg") +AnnotationAssertion(Annotation( ) Annotation( ) "Foot and ankle bend up toward shin of leg") AnnotationAssertion( "UMLS:C1860450") AnnotationAssertion( "Calcaneovalgus") AnnotationAssertion( "Calcaneovalgus Foot") @@ -38173,7 +38166,7 @@ AnnotationAssertion(Annotation( "HP:0001777") AnnotationAssertion( "SNOMEDCT_US:249820005") AnnotationAssertion( "UMLS:C0426934") -AnnotationAssertion(Annotation( ) "Missing toes") +AnnotationAssertion(Annotation( ) "Missing toes") AnnotationAssertion( "Oligodactyly of feet") AnnotationAssertion( "HP:0001849") AnnotationAssertion( ) @@ -38186,7 +38179,7 @@ SubClassOf( ) "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.") AnnotationAssertion( "UMLS:C1862136") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal ankle bones") AnnotationAssertion( "Abnormal tarsals") AnnotationAssertion( "HP:0001850") AnnotationAssertion(rdfs:label "Abnormality of the tarsal bones") @@ -38198,18 +38191,18 @@ SubClassOf( ) Annotation( "PMID:19125433") "A widely spaced gap between the first toe (the great toe) and the second toe.") AnnotationAssertion( "UMLS:C1840069") -AnnotationAssertion(Annotation( ) "Gap between 1st and 2nd toes") -AnnotationAssertion(Annotation( ) "Gap between first and second toe") -AnnotationAssertion(Annotation( ) "Increased space between first and second toes") -AnnotationAssertion(Annotation( ) "Sandal gap between first and second toes") +AnnotationAssertion(Annotation( ) "Gap between 1st and 2nd toes") +AnnotationAssertion(Annotation( ) "Gap between first and second toe") +AnnotationAssertion(Annotation( ) "Increased space between first and second toes") +AnnotationAssertion(Annotation( ) "Sandal gap between first and second toes") AnnotationAssertion( "Space between great toe and second toe") -AnnotationAssertion(Annotation( ) "Wide space between 1st, 2nd toes") -AnnotationAssertion(Annotation( ) "Wide space between first and second toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide-spaced big toe") -AnnotationAssertion(Annotation( ) "Widely spaced 1st-2nd toes") -AnnotationAssertion(Annotation( ) "Widely spaced first and second toes") -AnnotationAssertion(Annotation( ) "Widened gap 1st-2nd toes") -AnnotationAssertion(Annotation( ) "Widened gap first and second toe") +AnnotationAssertion(Annotation( ) "Wide space between 1st, 2nd toes") +AnnotationAssertion(Annotation( ) "Wide space between first and second toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide-spaced big toe") +AnnotationAssertion(Annotation( ) "Widely spaced 1st-2nd toes") +AnnotationAssertion(Annotation( ) "Widely spaced first and second toes") +AnnotationAssertion(Annotation( ) "Widened gap 1st-2nd toes") +AnnotationAssertion(Annotation( ) "Widened gap first and second toe") AnnotationAssertion( "HP:0001852") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Sandal gap") @@ -38221,7 +38214,7 @@ AnnotationAssertion( "UMLS:C4021772") AnnotationAssertion( "Bifid distal phalanges of toes") AnnotationAssertion( "Bifid terminal phalanx of toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bones of toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bones of toes") AnnotationAssertion( "HP:0001853") AnnotationAssertion(rdfs:label "Bifid distal phalanx of toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -38244,7 +38237,7 @@ SubClassOf( "PMID:19125433") "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.") AnnotationAssertion( "UMLS:C4021771") AnnotationAssertion( "Hypoplastic distal phalanges of feet") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of toe") AnnotationAssertion( "HP:0001857") AnnotationAssertion(rdfs:comment "This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build.") AnnotationAssertion(rdfs:label "Short distal phalanx of toe") @@ -38273,7 +38266,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Toe clinodactyly) AnnotationAssertion(Annotation( ) "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).") -AnnotationAssertion(Annotation( ) Annotation( ) "Toe curvature") +AnnotationAssertion(Annotation( ) Annotation( ) "Toe curvature") AnnotationAssertion( "UMLS:C4021770") AnnotationAssertion( "UMLS:C4280587") AnnotationAssertion( "Clinodactyly of feet") @@ -38311,7 +38304,7 @@ SubClassOf( ) "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.") AnnotationAssertion( "UMLS:C1857953") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep wrinkles in soles of feet") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep wrinkles in soles of feet") AnnotationAssertion( "HP:0001869") AnnotationAssertion(rdfs:label "Deep plantar creases") SubClassOf( ) @@ -38336,7 +38329,7 @@ AnnotationAssertion( "UMLS:C0018939") AnnotationAssertion( "UMLS:C0850715") AnnotationAssertion( "UMLS:C4020864") -AnnotationAssertion(Annotation( ) "Abnormality of blood and blood-forming tissues") +AnnotationAssertion(Annotation( ) "Abnormality of blood and blood-forming tissues") AnnotationAssertion(Annotation( ) "Abnormality of the haematopoietic system") AnnotationAssertion( "Abnormality of the hematopoietic system") AnnotationAssertion(Annotation( ) "Haematological abnormality") @@ -38359,7 +38352,7 @@ AnnotationAssertion( "UMLS:C0040015") AnnotationAssertion( "UMLS:C0151854") AnnotationAssertion( "UMLS:C4020863") -AnnotationAssertion(Annotation( ) "Platelet abnormalities") +AnnotationAssertion(Annotation( ) "Platelet abnormalities") AnnotationAssertion( "Blood platelet disease") AnnotationAssertion( "Thrombasthenia") AnnotationAssertion( "HP:0001872") @@ -38381,7 +38374,7 @@ AnnotationAssertion( "SNOMEDCT_US:415116008") AnnotationAssertion( "UMLS:C0040034") AnnotationAssertion( "UMLS:C0392386") -AnnotationAssertion(Annotation( ) "Low platelet count") +AnnotationAssertion(Annotation( ) "Low platelet count") AnnotationAssertion( "HP:0001873") AnnotationAssertion(rdfs:comment "Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).") AnnotationAssertion(rdfs:label "Thrombocytopenia") @@ -38394,7 +38387,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:250274006") AnnotationAssertion( "UMLS:C0427515") AnnotationAssertion( "Abnormality of neutrophil") -AnnotationAssertion(Annotation( ) "Abnormality of neutrophils") +AnnotationAssertion(Annotation( ) "Abnormality of neutrophils") AnnotationAssertion( "Abnormality of polymorphonuclear neutrophils") AnnotationAssertion( "HP:0001874") AnnotationAssertion(rdfs:comment "Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.") @@ -38409,8 +38402,8 @@ AnnotationAssertion( "HP:0005533") AnnotationAssertion( "SNOMEDCT_US:165517008") AnnotationAssertion( "UMLS:C0853697") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood neutrophil count") -AnnotationAssertion(Annotation( ) "Low neutrophil count") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood neutrophil count") +AnnotationAssertion(Annotation( ) "Low neutrophil count") AnnotationAssertion(Annotation( ) "Neutropoenia") AnnotationAssertion( "Peripheral neutropenia") AnnotationAssertion( "HP:0001875") @@ -38425,7 +38418,7 @@ AnnotationAssertion(Annotation( "MSH:D010198") AnnotationAssertion( "SNOMEDCT_US:127034005") AnnotationAssertion( "UMLS:C0030312") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cell count") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cell count") AnnotationAssertion(Annotation( ) "Pancytopaenia") AnnotationAssertion( "HP:0001876") AnnotationAssertion(rdfs:label "Pancytopenia") @@ -38483,7 +38476,7 @@ SubClassOf( ) "Increased count of eosinophils in the blood.") AnnotationAssertion( "MSH:D004802") AnnotationAssertion( "UMLS:C0014457") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood eosinophil count") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood eosinophil count") AnnotationAssertion( "HP:0001880") AnnotationAssertion(rdfs:label "Eosinophilia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -38510,8 +38503,8 @@ AnnotationAssertion(Annotation( "MSH:D007970") AnnotationAssertion( "SNOMEDCT_US:84828003") AnnotationAssertion( "UMLS:C0023530") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood leukocyte number") -AnnotationAssertion(Annotation( ) "Low white blood cell count") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood leukocyte number") +AnnotationAssertion(Annotation( ) "Low white blood cell count") AnnotationAssertion( "HP:0001882") AnnotationAssertion(rdfs:label "Leukopenia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -38546,7 +38539,7 @@ SubClassOf( ) "Underdevelopment (hypoplasia) of the second toe.") AnnotationAssertion( "UMLS:C4021769") -AnnotationAssertion(Annotation( ) "Short second toe") +AnnotationAssertion(Annotation( ) "Short second toe") AnnotationAssertion( "HP:0001885") AnnotationAssertion(rdfs:label "Short 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -38556,7 +38549,7 @@ SubClassOf( "An infection of bone of the foot.") AnnotationAssertion( "UMLS:C4025737") -AnnotationAssertion(Annotation( ) "Foot bone infection") +AnnotationAssertion(Annotation( ) "Foot bone infection") AnnotationAssertion( "HP:0001886") AnnotationAssertion(rdfs:label "Foot osteomyelitis") SubClassOf( ) @@ -38569,8 +38562,8 @@ AnnotationAssertion( "SNOMEDCT_US:48813009") AnnotationAssertion( "UMLS:C0024312") AnnotationAssertion( "Absolute lymphocyte count decrease") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood lymphocyte number") -AnnotationAssertion(Annotation( ) Annotation( ) "Low lymphocyte number") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood lymphocyte number") +AnnotationAssertion(Annotation( ) Annotation( ) "Low lymphocyte number") AnnotationAssertion( "Lymphocytopenia") AnnotationAssertion( "HP:0001888") AnnotationAssertion(rdfs:label "Lymphopenia") @@ -38630,7 +38623,7 @@ AnnotationAssertion( "SNOMEDCT_US:64779008") AnnotationAssertion( "UMLS:C1458140") AnnotationAssertion( "Bleeding diathesis") -AnnotationAssertion(Annotation( ) "Bleeding tendency") +AnnotationAssertion(Annotation( ) "Bleeding tendency") AnnotationAssertion( "Hemorrhagic diathesis") AnnotationAssertion( "HP:0001892") AnnotationAssertion(rdfs:comment "This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.") @@ -38646,7 +38639,7 @@ AnnotationAssertion( "SNOMEDCT_US:6631009") AnnotationAssertion( "UMLS:C0836924") AnnotationAssertion( "UMLS:C0857460") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased number of platelets in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased number of platelets in blood") AnnotationAssertion( "Increased platelet count") AnnotationAssertion( "Thrombocythaemia") AnnotationAssertion( "Thrombocythemia") @@ -38726,7 +38719,7 @@ AnnotationAssertion( "UMLS:C1527405") AnnotationAssertion(Annotation( ) "Abnormally shaped erythrocytes") AnnotationAssertion( "Erythrocytosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased red blood cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased red blood cells") AnnotationAssertion( "Polyglobulia") AnnotationAssertion( "HP:0001901") AnnotationAssertion(rdfs:label "Polycythemia") @@ -38757,7 +38750,7 @@ AnnotationAssertion( "UMLS:C0162119") AnnotationAssertion( "Anaemia") AnnotationAssertion(Annotation( ) "Low number of red blood cells or haemoglobin") -AnnotationAssertion(Annotation( ) Annotation( ) "Low number of red blood cells or hemoglobin") +AnnotationAssertion(Annotation( ) Annotation( ) "Low number of red blood cells or hemoglobin") AnnotationAssertion(Annotation( ) "Decreased haemoglobin") AnnotationAssertion( "Decreased hemoglobin") AnnotationAssertion( "HP:0001903") @@ -38797,7 +38790,7 @@ AnnotationAssertion( "SNOMEDCT_US:371039008") AnnotationAssertion( "UMLS:C0040038") AnnotationAssertion( "UMLS:C0085307") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in blood vessel") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in blood vessel") AnnotationAssertion( "Thromboembolic disease") AnnotationAssertion( "Thromboembolic events") AnnotationAssertion( "Embolism and thrombosis") @@ -38822,7 +38815,7 @@ SubClassOf( ) Annotation( "NCIT:C3161") "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.") AnnotationAssertion( "HP:0005519") AnnotationAssertion( "HP:0006726") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood cancer") AnnotationAssertion( "MSH:D007938") AnnotationAssertion( "MSH:D019337") AnnotationAssertion( "SNOMEDCT_US:129154003") @@ -38919,7 +38912,7 @@ AnnotationAssertion( "SNOMEDCT_US:282664001") AnnotationAssertion( "SNOMEDCT_US:302233006") AnnotationAssertion( "UMLS:C0035067") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of kidney artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of kidney artery") AnnotationAssertion( "HP:0001920") AnnotationAssertion(rdfs:label "Renal artery stenosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -38946,8 +38939,8 @@ AnnotationAssertion(Annotation( "MSH:D045262") AnnotationAssertion( "SNOMEDCT_US:46049004") AnnotationAssertion( "UMLS:C0206160") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased immature red blood cells") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased number of immature red blood cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased immature red blood cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased number of immature red blood cells") AnnotationAssertion( "Increased reticulocyte count") AnnotationAssertion( "Increased reticulocytes") AnnotationAssertion( "HP:0001923") @@ -39041,7 +39034,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-02-28T07:14:00Z") AnnotationAssertion( "UMLS:C0854107") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding below the skin") AnnotationAssertion(Annotation( ) "Subcutaneous haemorrhage") AnnotationAssertion( "HP:0001933") AnnotationAssertion(rdfs:comment "Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.") @@ -39054,9 +39047,9 @@ SubClassOf( "HP:0007463") AnnotationAssertion( "UMLS:C1844374") -AnnotationAssertion(Annotation( ) "Excessive bleeding after minor trauma") -AnnotationAssertion(Annotation( ) "Frequent bleeding with trauma") -AnnotationAssertion(Annotation( ) "Prolonged bleeding after minor trauma") +AnnotationAssertion(Annotation( ) "Excessive bleeding after minor trauma") +AnnotationAssertion(Annotation( ) "Frequent bleeding with trauma") +AnnotationAssertion(Annotation( ) "Prolonged bleeding after minor trauma") AnnotationAssertion( "HP:0001934") AnnotationAssertion(rdfs:label "Persistent bleeding after trauma") SubClassOf( ) @@ -39089,8 +39082,8 @@ AnnotationAssertion( "HP:0004355") AnnotationAssertion( "HP:0004367") AnnotationAssertion( "UMLS:C4021768") -AnnotationAssertion(Annotation( ) "Laboratory abnormality") -AnnotationAssertion(Annotation( ) "Metabolism abnormality") +AnnotationAssertion(Annotation( ) "Laboratory abnormality") +AnnotationAssertion(Annotation( ) "Metabolism abnormality") AnnotationAssertion( "HP:0001939") AnnotationAssertion(rdfs:label "Abnormality of metabolism/homeostasis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39132,7 +39125,7 @@ AnnotationAssertion( "SNOMEDCT_US:302866003") AnnotationAssertion( "UMLS:C0020615") AnnotationAssertion( "Hypoglycaemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar") AnnotationAssertion( "HP:0001943") AnnotationAssertion(rdfs:label "Hypoglycemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39143,7 +39136,7 @@ SubClassOf( "MSH:D003681") AnnotationAssertion( "SNOMEDCT_US:34095006") AnnotationAssertion( "UMLS:C0011175") -AnnotationAssertion(Annotation( ) "Dehydration") +AnnotationAssertion(Annotation( ) "Dehydration") AnnotationAssertion( "Exsiccosis") AnnotationAssertion( "HP:0001944") AnnotationAssertion(rdfs:label "Dehydration") @@ -39156,7 +39149,7 @@ AnnotationAssertion( "SNOMEDCT_US:386661006") AnnotationAssertion( "SNOMEDCT_US:50177009") AnnotationAssertion( "UMLS:C0015967") -AnnotationAssertion(Annotation( ) "Fever") +AnnotationAssertion(Annotation( ) "Fever") AnnotationAssertion( "Hyperthermia") AnnotationAssertion( "Pyrexia") AnnotationAssertion( "HP:0001945") @@ -39173,7 +39166,7 @@ AnnotationAssertion( "SNOMEDCT_US:2538008") AnnotationAssertion( "UMLS:C0022638") AnnotationAssertion( "UMLS:C0235430") -AnnotationAssertion(Annotation( ) Annotation( ) "High levels of ketone bodies") +AnnotationAssertion(Annotation( ) Annotation( ) "High levels of ketone bodies") AnnotationAssertion( "Hyperketosis") AnnotationAssertion( "HP:0001946") AnnotationAssertion(rdfs:comment "Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate.") @@ -39187,7 +39180,7 @@ AnnotationAssertion(Annotation( "MSH:D000141") AnnotationAssertion( "SNOMEDCT_US:1776003") AnnotationAssertion( "UMLS:C0001126") -AnnotationAssertion(Annotation( ) Annotation( ) "Accumulation of acid in body due to kidney problem") +AnnotationAssertion(Annotation( ) Annotation( ) "Accumulation of acid in body due to kidney problem") AnnotationAssertion( "HP:0001947") AnnotationAssertion(rdfs:label "Renal tubular acidosis") SubClassOf( ) @@ -39236,7 +39229,7 @@ AnnotationAssertion(Annotation( "HP:0000833") AnnotationAssertion( "Abnormal glucose tolerance") AnnotationAssertion( "UMLS:C0235401") -AnnotationAssertion(Annotation( ) "Glucose intolerance") +AnnotationAssertion(Annotation( ) "Glucose intolerance") AnnotationAssertion( "HP:0001952") AnnotationAssertion(rdfs:label "Glucose intolerance") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39264,10 +39257,10 @@ AnnotationAssertion( "HP:0005980") AnnotationAssertion( "SNOMEDCT_US:77957000") AnnotationAssertion( "UMLS:C0277799") -AnnotationAssertion(Annotation( ) "Episodic fever") +AnnotationAssertion(Annotation( ) "Episodic fever") AnnotationAssertion( "Hyperthermia, episodic") -AnnotationAssertion(Annotation( ) "Increased body temperature, episodic") -AnnotationAssertion(Annotation( ) "Intermittent fever") +AnnotationAssertion(Annotation( ) "Increased body temperature, episodic") +AnnotationAssertion(Annotation( ) "Intermittent fever") AnnotationAssertion( "HP:0001954") AnnotationAssertion(rdfs:label "Recurrent fever") SubClassOf( ) @@ -39276,7 +39269,7 @@ SubClassOf( ) "Episodes of fever for which no infectious cause can be identified.") AnnotationAssertion( "UMLS:C1844662") -AnnotationAssertion(Annotation( ) "Unexplained fevers") +AnnotationAssertion(Annotation( ) "Unexplained fevers") AnnotationAssertion( "HP:0001955") AnnotationAssertion(rdfs:label "Unexplained fevers") SubClassOf( ) @@ -39289,7 +39282,7 @@ AnnotationAssertion( "SNOMEDCT_US:248311001") AnnotationAssertion( "UMLS:C0311277") AnnotationAssertion( "Centripetal obesity") -AnnotationAssertion(Annotation( ) "Truncal obesity") +AnnotationAssertion(Annotation( ) "Truncal obesity") AnnotationAssertion( "HP:0001956") AnnotationAssertion(rdfs:label "Truncal obesity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39309,7 +39302,7 @@ AnnotationAssertion( "SNOMEDCT_US:17173007") AnnotationAssertion( "SNOMEDCT_US:267026004") AnnotationAssertion( "UMLS:C0085602") -AnnotationAssertion(Annotation( ) Annotation( ) "Extreme thirst") +AnnotationAssertion(Annotation( ) Annotation( ) "Extreme thirst") AnnotationAssertion( "HP:0001959") AnnotationAssertion(rdfs:label "Polydipsia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39326,8 +39319,8 @@ SubClassOf( (Hypoplastic heart) AnnotationAssertion( "UMLS:C3151525") -AnnotationAssertion(Annotation( ) Annotation( ) "Small heart") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Small heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped heart") AnnotationAssertion( "HP:0001961") AnnotationAssertion(rdfs:label "Hypoplastic heart") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39340,9 +39333,9 @@ AnnotationAssertion( "SNOMEDCT_US:80313002") AnnotationAssertion( "UMLS:C0030252") AnnotationAssertion( "Heart palpitations") -AnnotationAssertion(Annotation( ) "Missed heart beat") -AnnotationAssertion(Annotation( ) "Palpitations") -AnnotationAssertion(Annotation( ) "Skipped heart beat") +AnnotationAssertion(Annotation( ) "Missed heart beat") +AnnotationAssertion(Annotation( ) "Palpitations") +AnnotationAssertion(Annotation( ) "Skipped heart beat") AnnotationAssertion( "HP:0001962") AnnotationAssertion(rdfs:label "Palpitations") SubClassOf( ) @@ -39351,8 +39344,8 @@ SubClassOf( ) "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.") AnnotationAssertion( "UMLS:C1836752") -AnnotationAssertion(Annotation( ) "Abnormal speech discrimination") -AnnotationAssertion(Annotation( ) "Poor speech discrimination") +AnnotationAssertion(Annotation( ) "Abnormal speech discrimination") +AnnotationAssertion(Annotation( ) "Poor speech discrimination") AnnotationAssertion( "HP:0001963") AnnotationAssertion(rdfs:label "Abnormal speech discrimination") SubClassOf( ) @@ -39364,8 +39357,8 @@ AnnotationAssertion( "Absent or hypoplastic metatarsal") AnnotationAssertion( "Absent/hypoplastic metacarpals") AnnotationAssertion( "Absent/hypoplastic metatarsals") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small long bone of foot") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped long bone of foot") AnnotationAssertion( "Aplastic/hypoplastic metatarsals") AnnotationAssertion( "HP:0001964") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of metatarsal bones") @@ -39377,7 +39370,7 @@ SubClassOf( ) "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.") AnnotationAssertion( "UMLS:C4025734") -AnnotationAssertion(Annotation( ) "Abnormality of the scalp") +AnnotationAssertion(Annotation( ) "Abnormality of the scalp") AnnotationAssertion(Annotation( ) "Anomaly of scalp") AnnotationAssertion( "HP:0001965") AnnotationAssertion(rdfs:comment "The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones.") @@ -39493,9 +39486,9 @@ AnnotationAssertion(Annotation( "MSH:D007964") AnnotationAssertion( "SNOMEDCT_US:111583006") AnnotationAssertion( "UMLS:C0023518") -AnnotationAssertion(Annotation( ) "Elevated white blood count") -AnnotationAssertion(Annotation( ) "High white blood count") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood leukocyte number") +AnnotationAssertion(Annotation( ) "Elevated white blood count") +AnnotationAssertion(Annotation( ) "High white blood count") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood leukocyte number") AnnotationAssertion( "HP:0001974") AnnotationAssertion(rdfs:label "Leukocytosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -39534,7 +39527,7 @@ SubClassOf( ) "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).") AnnotationAssertion( "UMLS:C4025731") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood clot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood clot") AnnotationAssertion( "Abnormal blood clotting") AnnotationAssertion( "HP:0001977") AnnotationAssertion(rdfs:label "Abnormal thrombosis") @@ -39631,7 +39624,7 @@ AnnotationAssertion( "MSH:D022124") AnnotationAssertion( "SNOMEDCT_US:9360008") AnnotationAssertion( "UMLS:C0220994") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood ammonia levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood ammonia levels") AnnotationAssertion( "HP:0001987") AnnotationAssertion(rdfs:label "Hyperammonemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -39644,7 +39637,7 @@ AnnotationAssertion( "Hypoglycemic episodes") AnnotationAssertion( "Recurrent hypoglycaemia") AnnotationAssertion( "Recurrent hypoglycemic episodes") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent low blood sugar levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent low blood sugar levels") AnnotationAssertion(Annotation( ) "hypoglycaemia, recurrent") AnnotationAssertion(Annotation( ) "hypoglycemia, recurrent") AnnotationAssertion( "HP:0001988") @@ -39673,8 +39666,8 @@ SubClassOf( ) "Absence or hypoplasia of toes.") AnnotationAssertion( "UMLS:C3551148") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped toe") AnnotationAssertion( "Aplastic/hypoplastic toe phalanges") AnnotationAssertion(Annotation( ) "Absent/hypoplastic toes") AnnotationAssertion( "HP:0001991") @@ -39758,7 +39751,7 @@ SubClassOf( "SNOMEDCT_US:52767006") AnnotationAssertion( "UMLS:C0158986") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar in newborn") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar in newborn") AnnotationAssertion( "HP:0001998") AnnotationAssertion(rdfs:label "Neonatal hypoglycemia") SubClassOf( ) @@ -39774,8 +39767,8 @@ AnnotationAssertion( "HP:0004655") AnnotationAssertion( "HP:0004675") AnnotationAssertion( "HP:0005124") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of face") AnnotationAssertion( "SNOMEDCT_US:248200007") AnnotationAssertion( "SNOMEDCT_US:32003007") AnnotationAssertion( "SNOMEDCT_US:398206004") @@ -39785,16 +39778,16 @@ AnnotationAssertion( "UMLS:C1385263") AnnotationAssertion( "UMLS:C4072832") AnnotationAssertion( "UMLS:C4072833") -AnnotationAssertion(Annotation( ) "Abnormal facial shape") +AnnotationAssertion(Annotation( ) "Abnormal facial shape") AnnotationAssertion(Annotation( ) "Abnormal morphology of the face") AnnotationAssertion( "Distinctive facies") AnnotationAssertion( "Dysmorphic facial features") AnnotationAssertion(Annotation( ) "Dysmorphic facies") AnnotationAssertion(Annotation( ) "Facial dysmorphism") -AnnotationAssertion(Annotation( ) Annotation( ) "Unusual facial appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Unusual facial appearance") AnnotationAssertion( "Unusual facies") -AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Funny looking face") +AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Funny looking face") AnnotationAssertion( "HP:0001999") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.") @@ -39841,9 +39834,9 @@ SubClassOf( "UMLS:C1839783") AnnotationAssertion( "UMLS:C4280583") AnnotationAssertion( "UMLS:C4280584") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of forehead") AnnotationAssertion(Annotation( ) "Increased size of frontal region of face") -AnnotationAssertion(Annotation( ) "Large forehead") +AnnotationAssertion(Annotation( ) "Large forehead") AnnotationAssertion(Annotation( ) "Hyperplasia of forehead") AnnotationAssertion(Annotation( ) "Hypertrophy of forehead") AnnotationAssertion( "HP:0002003") @@ -39856,10 +39849,10 @@ SubClassOf( ) "A congenital malformation with a cleft (gap or opening) in the face.") AnnotationAssertion( "SNOMEDCT_US:92821006") AnnotationAssertion( "UMLS:C0685787") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of the face") -AnnotationAssertion(Annotation( ) "Facial cleft") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of the face") +AnnotationAssertion(Annotation( ) "Facial cleft") AnnotationAssertion(Annotation( ) "Tessier facial cleft") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial clefts") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial clefts") AnnotationAssertion( "HP:0002006") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.") @@ -39899,11 +39892,11 @@ SubClassOf( (Narrow maxilla) AnnotationAssertion( "UMLS:C1851835") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased breadth of upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased breadth of upper jaw bones") AnnotationAssertion(Annotation( ) "Decreased transverse dimension of maxilla") AnnotationAssertion(Annotation( ) "Decreased width of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of upper jaw bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow upper jaw bones") AnnotationAssertion(Annotation( ) "Transverse hypoplasia of maxilla") AnnotationAssertion(Annotation( ) "Transverse maxillary deficiency") AnnotationAssertion(Annotation( ) "Transverse maxillary insufficiency") @@ -39936,7 +39929,7 @@ SubClassOf( ) "An abnormality of the viscera of the abdomen.") AnnotationAssertion( "UMLS:C4021764") -AnnotationAssertion(Annotation( ) "Abnormality of the abdominal organs") +AnnotationAssertion(Annotation( ) "Abnormality of the abdominal organs") AnnotationAssertion( "Gastrointestinal tract defects") AnnotationAssertion( "HP:0002012") AnnotationAssertion(rdfs:comment "The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen.") @@ -39953,8 +39946,8 @@ AnnotationAssertion( "SNOMEDCT_US:422400008") AnnotationAssertion( "UMLS:C0042963") AnnotationAssertion( "Emesis") -AnnotationAssertion(Annotation( ) "Throwing up") -AnnotationAssertion(Annotation( ) "Vomiting") +AnnotationAssertion(Annotation( ) "Throwing up") +AnnotationAssertion(Annotation( ) "Vomiting") AnnotationAssertion( "HP:0002013") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Vomiting") @@ -39967,9 +39960,9 @@ AnnotationAssertion( "SNOMEDCT_US:267060006") AnnotationAssertion( "SNOMEDCT_US:62315008") AnnotationAssertion( "UMLS:C0011991") -AnnotationAssertion(Annotation( ) "Diarrhea") +AnnotationAssertion(Annotation( ) "Diarrhea") AnnotationAssertion(Annotation( ) "Diarrhoea") -AnnotationAssertion(Annotation( ) "Watery stool") +AnnotationAssertion(Annotation( ) "Watery stool") AnnotationAssertion(Annotation( "PMID:28846339") "HP:0002014") AnnotationAssertion(rdfs:label "Diarrhea") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -39985,9 +39978,9 @@ AnnotationAssertion( "SNOMEDCT_US:40739000") AnnotationAssertion( "UMLS:C0011168") AnnotationAssertion( "Difficulty swallowing") -AnnotationAssertion(Annotation( ) "Poor swallowing") -AnnotationAssertion(Annotation( ) "Swallowing difficulties") -AnnotationAssertion(Annotation( ) "Swallowing difficulty") +AnnotationAssertion(Annotation( ) "Poor swallowing") +AnnotationAssertion(Annotation( ) "Swallowing difficulties") +AnnotationAssertion(Annotation( ) "Swallowing difficulty") AnnotationAssertion( "Deglutition disorder") AnnotationAssertion( "HP:0002015") AnnotationAssertion( ) @@ -40000,7 +39993,7 @@ SubClassOf( "PMID:26770271") "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.") AnnotationAssertion( "SNOMEDCT_US:16932000") AnnotationAssertion( "UMLS:C0027498") -AnnotationAssertion(Annotation( ) "Nausea and vomiting") +AnnotationAssertion(Annotation( ) "Nausea and vomiting") AnnotationAssertion( "HP:0002017") AnnotationAssertion(rdfs:label "Nausea and vomiting") SubClassOf( ) @@ -40012,7 +40005,7 @@ AnnotationAssertion(Annotation(rdfs:label "Nausea") "MSH:D009325") AnnotationAssertion( "SNOMEDCT_US:422587007") AnnotationAssertion( "UMLS:C0027497") -AnnotationAssertion(Annotation( ) "Nausea") +AnnotationAssertion(Annotation( ) "Nausea") AnnotationAssertion( "HP:0002018") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Nausea") @@ -40028,7 +40021,7 @@ AnnotationAssertion( "SNOMEDCT_US:225595004") AnnotationAssertion( "UMLS:C0009806") AnnotationAssertion( "UMLS:C0237326") -AnnotationAssertion(Annotation( ) "Constipation") +AnnotationAssertion(Annotation( ) "Constipation") AnnotationAssertion( "Costiveness") AnnotationAssertion( "Dyschezia") AnnotationAssertion( "HP:0002019") @@ -40047,13 +40040,13 @@ AnnotationAssertion( "SNOMEDCT_US:698065002") AnnotationAssertion( "UMLS:C0017168") AnnotationAssertion( "UMLS:C0018834") -AnnotationAssertion(Annotation( ) "Acid reflux") -AnnotationAssertion(Annotation( ) "Acid reflux disease") +AnnotationAssertion(Annotation( ) "Acid reflux") +AnnotationAssertion(Annotation( ) "Acid reflux disease") AnnotationAssertion(Annotation( ) Annotation( ) "GERD") AnnotationAssertion( "Gastro-esophageal reflux") AnnotationAssertion(Annotation( ) "Gastro-oesophageal reflux") AnnotationAssertion( "Gastroesophageal reflux disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Heartburn") +AnnotationAssertion(Annotation( ) Annotation( ) "Heartburn") AnnotationAssertion( "HP:0002020") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Gastroesophageal reflux") @@ -40087,7 +40080,7 @@ AnnotationAssertion( "SNOMEDCT_US:204712000") AnnotationAssertion( "SNOMEDCT_US:204731006") AnnotationAssertion( "UMLS:C0003466") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent anus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent anus") AnnotationAssertion( "Imperforate anus") AnnotationAssertion( "HP:0002023") AnnotationAssertion( ) @@ -40100,8 +40093,8 @@ SubClassOf( ) "Impaired ability to absorb one or more nutrients from the intestine.") AnnotationAssertion( "HP:0008270") AnnotationAssertion( "UMLS:C3714745") -AnnotationAssertion(Annotation( ) "Intestinal malabsorption") -AnnotationAssertion(Annotation( ) "Malabsorption") +AnnotationAssertion(Annotation( ) "Intestinal malabsorption") +AnnotationAssertion(Annotation( ) "Malabsorption") AnnotationAssertion( "HP:0002024") AnnotationAssertion(rdfs:label "Malabsorption") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40114,7 +40107,7 @@ AnnotationAssertion(Annotation(rdfs:label "Anal stenosis") "SNOMEDCT_US:250037002") AnnotationAssertion( "SNOMEDCT_US:69914001") AnnotationAssertion( "UMLS:C0262374") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of anal opening") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of anal opening") AnnotationAssertion( "HP:0002025") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Anal stenosis") @@ -40124,17 +40117,17 @@ SubClassOf( (Abdominal pain) AnnotationAssertion(Annotation( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.") -AnnotationAssertion(Annotation( ) "Gastro pain") -AnnotationAssertion(Annotation( ) "Gastrointestinal pain") +AnnotationAssertion(Annotation( ) "Gastro pain") +AnnotationAssertion(Annotation( ) "Gastrointestinal pain") AnnotationAssertion(Annotation(rdfs:label "Abdominal pain") "MEDDRA:10000081") AnnotationAssertion( "MSH:D015746") AnnotationAssertion( "SNOMEDCT_US:21522001") AnnotationAssertion( "UMLS:C0000737") -AnnotationAssertion(Annotation( ) "Abdominal pain") -AnnotationAssertion(Annotation( ) "Pain in stomach") -AnnotationAssertion(Annotation( ) Annotation( ) "Stomach pain") -AnnotationAssertion(Annotation( ) "Abdominal discomfort") -AnnotationAssertion(Annotation( ) Annotation( ) "Upset stomach") +AnnotationAssertion(Annotation( ) "Abdominal pain") +AnnotationAssertion(Annotation( ) "Pain in stomach") +AnnotationAssertion(Annotation( ) Annotation( ) "Stomach pain") +AnnotationAssertion(Annotation( ) "Abdominal discomfort") +AnnotationAssertion(Annotation( ) Annotation( ) "Upset stomach") AnnotationAssertion( "HP:0002027") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain.") @@ -40147,10 +40140,10 @@ SubClassOf( ) "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.") AnnotationAssertion( "SNOMEDCT_US:236071009") AnnotationAssertion( "UMLS:C0401151") -AnnotationAssertion(Annotation( ) "Chronic diarrhea") +AnnotationAssertion(Annotation( ) "Chronic diarrhea") AnnotationAssertion(Annotation( ) "Chronic diarrhoea") -AnnotationAssertion(Annotation( ) Annotation( ) "Diarrhea, recurrent") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent diarrhea") +AnnotationAssertion(Annotation( ) Annotation( ) "Diarrhea, recurrent") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent diarrhea") AnnotationAssertion(Annotation( ) "Recurrent diarrhoea") AnnotationAssertion( "HP:0002028") AnnotationAssertion(rdfs:label "Chronic diarrhea") @@ -40162,7 +40155,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:69771008") AnnotationAssertion( "UMLS:C0266126") AnnotationAssertion(Annotation( ) "Abnormal oesophagus morphology") -AnnotationAssertion(Annotation( ) "Abnormality of esophagus structure") +AnnotationAssertion(Annotation( ) "Abnormality of esophagus structure") AnnotationAssertion(Annotation( ) "Abnormality of oesophagus structure") AnnotationAssertion( "Anomaly of the esophagus") AnnotationAssertion(Annotation( ) "Anomaly of the oesophagus") @@ -40178,7 +40171,7 @@ AnnotationAssertion( "MSH:D004933") AnnotationAssertion( "SNOMEDCT_US:26179002") AnnotationAssertion( "UMLS:C0014850") -AnnotationAssertion(Annotation( ) Annotation( ) "Birth defect in which part of esophagus did not develop") +AnnotationAssertion(Annotation( ) Annotation( ) "Birth defect in which part of esophagus did not develop") AnnotationAssertion(Annotation( ) "Birth defect in which part of oesophagus did not develop") AnnotationAssertion( "HP:0002032") AnnotationAssertion(rdfs:label "Esophageal atresia") @@ -40190,8 +40183,8 @@ SubClassOf( ) "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.") AnnotationAssertion( "UMLS:C1837142") -AnnotationAssertion(Annotation( ) "Poor suck") -AnnotationAssertion(Annotation( ) Annotation( ) "Poor sucking") +AnnotationAssertion(Annotation( ) "Poor suck") +AnnotationAssertion(Annotation( ) Annotation( ) "Poor sucking") AnnotationAssertion( "Sucking weakness") AnnotationAssertion( "HP:0002033") AnnotationAssertion(rdfs:label "Poor suck") @@ -40203,8 +40196,8 @@ SubClassOf( ) "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.") AnnotationAssertion( "SNOMEDCT_US:86993003") AnnotationAssertion( "UMLS:C0266210") -AnnotationAssertion(Annotation( ) "Abnormality of the rectum") -AnnotationAssertion(Annotation( ) "Anomaly of the rectum") +AnnotationAssertion(Annotation( ) "Abnormality of the rectum") +AnnotationAssertion(Annotation( ) "Anomaly of the rectum") AnnotationAssertion( "HP:0002034") AnnotationAssertion(rdfs:label "Abnormal rectum morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40218,7 +40211,7 @@ AnnotationAssertion(Annotation(rdfs:label "Rectal prolapse") "MSH:D012005") AnnotationAssertion( "SNOMEDCT_US:57773001") AnnotationAssertion( "UMLS:C0034888") -AnnotationAssertion(Annotation( ) Annotation( ) "Rectum protrudes through anus") +AnnotationAssertion(Annotation( ) Annotation( ) "Rectum protrudes through anus") AnnotationAssertion(Annotation( ) "Rectal prolapsed") AnnotationAssertion( "HP:0002035") AnnotationAssertion( ) @@ -40236,7 +40229,7 @@ AnnotationAssertion( "SNOMEDCT_US:84089009") AnnotationAssertion( "UMLS:C3489393") AnnotationAssertion( "Hiatal hernia") -AnnotationAssertion(Annotation( ) Annotation( ) "Stomach hernia") +AnnotationAssertion(Annotation( ) Annotation( ) "Stomach hernia") AnnotationAssertion( "HP:0002036") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn).") @@ -40253,8 +40246,8 @@ AnnotationAssertion( "SNOMEDCT_US:302168000") AnnotationAssertion( "UMLS:C0021390") AnnotationAssertion( "UMLS:C0578878") -AnnotationAssertion(Annotation( ) "Inflammation of the large intestine") -AnnotationAssertion(Annotation( ) "Inflammatory bowel disease") +AnnotationAssertion(Annotation( ) "Inflammation of the large intestine") +AnnotationAssertion(Annotation( ) "Inflammatory bowel disease") AnnotationAssertion( "HP:0002037") AnnotationAssertion(rdfs:label "Inflammation of the large intestine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -40274,7 +40267,7 @@ AnnotationAssertion(Annotation( "MSH:D000855") AnnotationAssertion( "SNOMEDCT_US:79890006") AnnotationAssertion( "UMLS:C0003123") -AnnotationAssertion(Annotation( ) "Anorexia") +AnnotationAssertion(Annotation( ) "Anorexia") AnnotationAssertion( "HP:0002039") AnnotationAssertion(rdfs:comment "Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat).") AnnotationAssertion(rdfs:label "Anorexia") @@ -40288,7 +40281,7 @@ AnnotationAssertion(Annotation(rdfs:label "Varices oesophageal") "MSH:D004932") AnnotationAssertion( "SNOMEDCT_US:28670008") AnnotationAssertion( "UMLS:C0014867") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged vein in esophagus") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged vein in esophagus") AnnotationAssertion(Annotation( ) "Enlarged vein in oesophagus") AnnotationAssertion( "Esophageal varices") AnnotationAssertion( "HP:0002040") @@ -40311,7 +40304,7 @@ AnnotationAssertion(Annotation( "MSH:D004940") AnnotationAssertion( "SNOMEDCT_US:63305008") AnnotationAssertion( "UMLS:C0014866") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of esophagus due to inflammation and scar tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of esophagus due to inflammation and scar tissue") AnnotationAssertion(Annotation( ) "Narrowing of oesophagus due to inflammation and scar tissue") AnnotationAssertion( "HP:0002043") AnnotationAssertion(rdfs:comment "Gastroesophageal reflux is a common cause of esophageal stricture.") @@ -40337,8 +40330,8 @@ AnnotationAssertion(Annotation( "MSH:D007035") AnnotationAssertion( "SNOMEDCT_US:386689009") AnnotationAssertion( "UMLS:C0020672") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally low body temperature") -AnnotationAssertion(Annotation( ) "Hypothermia") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally low body temperature") +AnnotationAssertion(Annotation( ) "Hypothermia") AnnotationAssertion( "HP:0002045") AnnotationAssertion(rdfs:comment "A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F).") AnnotationAssertion(rdfs:label "Hypothermia") @@ -40349,8 +40342,8 @@ SubClassOf( ) "The inability to maintain a comfortable body temperature in warm or hot weather.") AnnotationAssertion( "SNOMEDCT_US:69215007") AnnotationAssertion( "UMLS:C0231274") -AnnotationAssertion(Annotation( ) "Heat intolerance") -AnnotationAssertion(Annotation( ) "Intolerance to heat and fevers") +AnnotationAssertion(Annotation( ) "Heat intolerance") +AnnotationAssertion(Annotation( ) "Intolerance to heat and fevers") AnnotationAssertion( "HP:0002046") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis.") @@ -40402,7 +40395,7 @@ SubClassOf( (Heavy supraorbital ridges) AnnotationAssertion( "UMLS:C1845107") -AnnotationAssertion(Annotation( ) Annotation( ) "Heavy brow of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Heavy brow of the face") AnnotationAssertion(Annotation( ) "Heavy supraorbital ridge") AnnotationAssertion( "HP:0002054") AnnotationAssertion(rdfs:label "Heavy supraorbital ridges") @@ -40419,10 +40412,10 @@ SubClassOf( ) "An abnormality of the glabella.") AnnotationAssertion( "UMLS:C4021763") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the area between the eyebrows") AnnotationAssertion( "Glabellar abnormality") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the area between the eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the area between the eyebrows") AnnotationAssertion( "HP:0002056") AnnotationAssertion(rdfs:label "Abnormality of the glabella") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40434,8 +40427,8 @@ AnnotationAssertion(Annotation( "UMLS:C1860247") AnnotationAssertion(Annotation( ) "Convex glabella") AnnotationAssertion(Annotation( ) "Hyperplasia of glabella") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent area between the eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding area between the eyebrows") AnnotationAssertion( "HP:0002057") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.") @@ -40466,7 +40459,7 @@ AnnotationAssertion( "UMLS:C0154671") AnnotationAssertion( "UMLS:C0235946") AnnotationAssertion( "UMLS:C4020860") -AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of cerebrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of cerebrum") AnnotationAssertion( "Supratentorial atrophy") AnnotationAssertion( "HP:0002059") AnnotationAssertion(rdfs:comment "Atrophy may be progressive over time.") @@ -40515,8 +40508,8 @@ AnnotationAssertion(Annotation( "MSH:D009127") AnnotationAssertion( "SNOMEDCT_US:16046003") AnnotationAssertion( "UMLS:C0026837") -AnnotationAssertion(Annotation( ) "Muscle rigidity") -AnnotationAssertion(Annotation( ) "Rigidity") +AnnotationAssertion(Annotation( ) "Muscle rigidity") +AnnotationAssertion(Annotation( ) "Rigidity") AnnotationAssertion( "HP:0002063") AnnotationAssertion(rdfs:comment "Rigidity is often a manifestation of basal ganglia diseases.") AnnotationAssertion(rdfs:label "Rigidity") @@ -40528,7 +40521,7 @@ AnnotationAssertion(Annotation( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:9447003") AnnotationAssertion( "UMLS:C0231687") -AnnotationAssertion(Annotation( ) Annotation( ) "Spastic walk") +AnnotationAssertion(Annotation( ) Annotation( ) "Spastic walk") AnnotationAssertion( "HP:0002064") AnnotationAssertion(rdfs:label "Spastic gait") SubClassOf( ) @@ -40543,7 +40536,7 @@ AnnotationAssertion( "UMLS:C0751837") AnnotationAssertion( "Ataxia of gait") AnnotationAssertion( "Ataxic gait") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to coordinate movements when walking") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to coordinate movements when walking") AnnotationAssertion( "HP:0002066") AnnotationAssertion(rdfs:label "Gait ataxia") SubClassOf( ) @@ -40555,8 +40548,8 @@ AnnotationAssertion(Annotation( "MSH:D018476") AnnotationAssertion( "SNOMEDCT_US:399317006") AnnotationAssertion( "UMLS:C0233565") -AnnotationAssertion(Annotation( ) Annotation( ) "Slow movements") -AnnotationAssertion(Annotation( ) "Slowness of movements") +AnnotationAssertion(Annotation( ) Annotation( ) "Slow movements") +AnnotationAssertion(Annotation( ) "Slowness of movements") AnnotationAssertion( "HP:0002067") AnnotationAssertion(rdfs:label "Bradykinesia") SubClassOf( ) @@ -40583,7 +40576,7 @@ AnnotationAssertion( "Generalized convulsion") AnnotationAssertion( "Generalized tonic-clonic seizure (without specification of onset)") AnnotationAssertion( "Grand mal") -AnnotationAssertion(Annotation( ) "Grand mal seizures") +AnnotationAssertion(Annotation( ) "Grand mal seizures") AnnotationAssertion( "Seizures, tonic-clonic") AnnotationAssertion(Annotation( ) "Tonic-clonic convulsion") AnnotationAssertion(Annotation( ) Annotation( ) "Tonic-clonic convulsions") @@ -40669,7 +40662,7 @@ AnnotationAssertion(Annotation( "HP:0002426") AnnotationAssertion( "SNOMEDCT_US:23133003") AnnotationAssertion( "UMLS:C0234979") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty performing quick and alternating movements") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty performing quick and alternating movements") AnnotationAssertion( "Dysdiadochokinesia") AnnotationAssertion( "HP:0002075") AnnotationAssertion(rdfs:comment "Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion.") @@ -40684,10 +40677,10 @@ AnnotationAssertion( "SNOMEDCT_US:37796009") AnnotationAssertion( "UMLS:C0149931") AnnotationAssertion( "UMLS:C0744641") -AnnotationAssertion(Annotation( ) "Intermittent migraine headaches") -AnnotationAssertion(Annotation( ) "Migraine") -AnnotationAssertion(Annotation( ) "Migraine headache") -AnnotationAssertion(Annotation( ) "Migraine headaches") +AnnotationAssertion(Annotation( ) "Intermittent migraine headaches") +AnnotationAssertion(Annotation( ) "Migraine") +AnnotationAssertion(Annotation( ) "Migraine headache") +AnnotationAssertion(Annotation( ) "Migraine headaches") AnnotationAssertion( "HP:0002076") AnnotationAssertion(rdfs:label "Migraine") SubClassOf( ) @@ -40709,7 +40702,7 @@ AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "SNOMEDCT_US:250067008") AnnotationAssertion( "UMLS:C0427190") -AnnotationAssertion(Annotation( ) Annotation( ) "Instability or lack of coordination of central trunk muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Instability or lack of coordination of central trunk muscles") AnnotationAssertion( "Trunk ataxia") AnnotationAssertion( "HP:0002078") AnnotationAssertion(rdfs:comment "Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support.") @@ -40727,7 +40720,7 @@ AnnotationAssertion( "Corpus callosum hypoplasia") AnnotationAssertion( "Hypoplasia of corpus callosum") AnnotationAssertion( "Hypoplastic corpus callosum") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdevelopment of part of brain called corpus callosum") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdevelopment of part of brain called corpus callosum") AnnotationAssertion( "HP:0002079") AnnotationAssertion(rdfs:comment "The corpus callosum appears thin in midline views of the brain in neuroradiological images.") AnnotationAssertion(rdfs:label "Hypoplasia of the corpus callosum") @@ -40786,7 +40779,7 @@ AnnotationAssertion( "MSH:D004677") AnnotationAssertion( "SNOMEDCT_US:42376006") AnnotationAssertion( "UMLS:C0014067") -AnnotationAssertion(Annotation( ) Annotation( ) "Brain tissue sticks out through back of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Brain tissue sticks out through back of skull") AnnotationAssertion( "Occipital meningoencephalocele") AnnotationAssertion( "Posterior encephalocele") AnnotationAssertion( "HP:0002085") @@ -40808,8 +40801,8 @@ SubClassOf( ) "An abnormality of the upper respiratory tract.") AnnotationAssertion( "UMLS:C4025727") -AnnotationAssertion(Annotation( ) "Abnormality of the upper respiratory tract") -AnnotationAssertion(Annotation( ) "Upper respiratory tract issues") +AnnotationAssertion(Annotation( ) "Abnormality of the upper respiratory tract") +AnnotationAssertion(Annotation( ) "Upper respiratory tract issues") AnnotationAssertion( "HP:0002087") AnnotationAssertion(rdfs:label "Abnormality of the upper respiratory tract") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40822,11 +40815,11 @@ AnnotationAssertion( "SNOMEDCT_US:19829001") AnnotationAssertion( "UMLS:C0024115") AnnotationAssertion( "UMLS:C4021760") -AnnotationAssertion(Annotation( ) "Abnormality of lung structure") -AnnotationAssertion(Annotation( ) "Abnormality of the lungs") -AnnotationAssertion(Annotation( ) "Abnormally shaped lung") -AnnotationAssertion(Annotation( ) "Unusal lung shape") -AnnotationAssertion(Annotation( ) "Lung disease") +AnnotationAssertion(Annotation( ) "Abnormality of lung structure") +AnnotationAssertion(Annotation( ) "Abnormality of the lungs") +AnnotationAssertion(Annotation( ) "Abnormally shaped lung") +AnnotationAssertion(Annotation( ) "Unusal lung shape") +AnnotationAssertion(Annotation( ) "Lung disease") AnnotationAssertion( "HP:0002088") AnnotationAssertion(rdfs:label "Abnormal lung morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40839,9 +40832,9 @@ AnnotationAssertion( "Hypoplastic lung") AnnotationAssertion( "Hypoplastic lungs") AnnotationAssertion( "Lung hypoplasia") -AnnotationAssertion(Annotation( ) "Poorly developed lungs") -AnnotationAssertion(Annotation( ) Annotation( ) "Small lung") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lung") +AnnotationAssertion(Annotation( ) "Poorly developed lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Small lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lung") AnnotationAssertion( "HP:0002089") AnnotationAssertion(rdfs:label "Pulmonary hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40853,7 +40846,7 @@ AnnotationAssertion(Annotation( "MSH:D011014") AnnotationAssertion( "SNOMEDCT_US:233604007") AnnotationAssertion( "UMLS:C0032285") -AnnotationAssertion(Annotation( ) "Pneumonia") +AnnotationAssertion(Annotation( ) "Pneumonia") AnnotationAssertion( "HP:0002090") AnnotationAssertion(rdfs:label "Pneumonia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -40873,7 +40866,7 @@ AnnotationAssertion( "Restrictive respiratory insufficiency") AnnotationAssertion( "Restrictive respiratory syndrome") AnnotationAssertion( "Spirometric restriction") -AnnotationAssertion(Annotation( ) Annotation( ) "Stiff lung or chest wall causing decreased lung volume") +AnnotationAssertion(Annotation( ) Annotation( ) "Stiff lung or chest wall causing decreased lung volume") AnnotationAssertion(Annotation( ) "Restrictive lung disease") AnnotationAssertion( "HP:0002091") AnnotationAssertion(rdfs:comment "The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.") @@ -40893,7 +40886,7 @@ AnnotationAssertion( "UMLS:C0020542") AnnotationAssertion( "UMLS:C2973725") AnnotationAssertion( "UMLS:C3203102") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood pressure in blood vessels of lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood pressure in blood vessels of lungs") AnnotationAssertion( "Pulmonary artery hypertension") AnnotationAssertion(Annotation( ) "Primary pulmonary hypertension") AnnotationAssertion( "HP:0002092") @@ -40911,8 +40904,8 @@ AnnotationAssertion( "SNOMEDCT_US:409623005") AnnotationAssertion( "UMLS:C0035229") AnnotationAssertion( "UMLS:C4020855") -AnnotationAssertion(Annotation( ) "Respiratory impairment") -AnnotationAssertion(Annotation( ) "Respiratory function loss") +AnnotationAssertion(Annotation( ) "Respiratory impairment") +AnnotationAssertion(Annotation( ) "Respiratory function loss") AnnotationAssertion( "HP:0002093") AnnotationAssertion(rdfs:label "Respiratory insufficiency") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -40926,13 +40919,13 @@ AnnotationAssertion( "SNOMEDCT_US:267036007") AnnotationAssertion( "UMLS:C0013404") AnnotationAssertion( "Abnormal breathing") -AnnotationAssertion(Annotation( ) "Breathing difficulty") -AnnotationAssertion(Annotation( ) "Difficult to breathe") -AnnotationAssertion(Annotation( ) "Difficulty breathing") +AnnotationAssertion(Annotation( ) "Breathing difficulty") +AnnotationAssertion(Annotation( ) "Difficult to breathe") +AnnotationAssertion(Annotation( ) "Difficulty breathing") AnnotationAssertion(Annotation( ) "Dyspnoea") -AnnotationAssertion(Annotation( ) "Shortness of breath") -AnnotationAssertion(Annotation( ) "Trouble breathing") -AnnotationAssertion(Annotation( ) "Panting") +AnnotationAssertion(Annotation( ) "Shortness of breath") +AnnotationAssertion(Annotation( ) "Trouble breathing") +AnnotationAssertion(Annotation( ) "Panting") AnnotationAssertion( "HP:0002094") AnnotationAssertion(rdfs:label "Dyspnea") SubClassOf( ) @@ -40959,8 +40952,8 @@ AnnotationAssertion( "SNOMEDCT_US:271825005") AnnotationAssertion( "UMLS:C0013404") AnnotationAssertion( "UMLS:C0476273") -AnnotationAssertion(Annotation( ) Annotation( ) "Breathing difficulties") -AnnotationAssertion(Annotation( ) "Labored breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Breathing difficulties") +AnnotationAssertion(Annotation( ) "Labored breathing") AnnotationAssertion(Annotation( ) "Laboured breathing") AnnotationAssertion( "Respiratory difficulties") AnnotationAssertion( "HP:0002098") @@ -40976,7 +40969,7 @@ AnnotationAssertion( "SNOMEDCT_US:991000119106") AnnotationAssertion( "UMLS:C0004096") AnnotationAssertion( "UMLS:C3714497") -AnnotationAssertion(Annotation( ) "Asthma") +AnnotationAssertion(Annotation( ) "Asthma") AnnotationAssertion( "Bronchial asthma") AnnotationAssertion( "Reactive airway disease") AnnotationAssertion( "HP:0002099") @@ -41016,7 +41009,7 @@ AnnotationAssertion(Annotation( "MSH:D010998") AnnotationAssertion( "SNOMEDCT_US:196075003") AnnotationAssertion( "UMLS:C0032231") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of tissues lining lungs and chest") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of tissues lining lungs and chest") AnnotationAssertion(Annotation( ) "Pleurisy") AnnotationAssertion( "HP:0002102") AnnotationAssertion(rdfs:label "Pleuritis") @@ -41056,9 +41049,9 @@ AnnotationAssertion( "SNOMEDCT_US:66857006") AnnotationAssertion( "SNOMEDCT_US:6686005") AnnotationAssertion( "UMLS:C0019079") -AnnotationAssertion(Annotation( ) Annotation( ) "Coughing up blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Coughing up blood") AnnotationAssertion(Annotation( ) "Haemoptysis") -AnnotationAssertion(Annotation( ) "Coughing up blood or blood-stained mucus") +AnnotationAssertion(Annotation( ) "Coughing up blood or blood-stained mucus") AnnotationAssertion( "HP:0002105") AnnotationAssertion(rdfs:label "Hemoptysis") SubClassOf( ) @@ -41069,7 +41062,7 @@ AnnotationAssertion(Annotation( "MSH:D011030") AnnotationAssertion( "SNOMEDCT_US:36118008") AnnotationAssertion( "UMLS:C0032326") -AnnotationAssertion(Annotation( ) Annotation( ) "Collapsed lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Collapsed lung") AnnotationAssertion( "HP:0002107") AnnotationAssertion(rdfs:label "Pneumothorax") SubClassOf( ) @@ -41080,7 +41073,7 @@ AnnotationAssertion(Annotation( "MSH:D011030") AnnotationAssertion( "SNOMEDCT_US:80423007") AnnotationAssertion( "UMLS:C0149781") -AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous collapsed lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous collapsed lung") AnnotationAssertion( "HP:0002108") AnnotationAssertion(rdfs:label "Spontaneous pneumothorax") SubClassOf( ) @@ -41098,7 +41091,7 @@ AnnotationAssertion(Annotation( "MSH:D001987") AnnotationAssertion( "SNOMEDCT_US:12295008") AnnotationAssertion( "UMLS:C0006267") -AnnotationAssertion(Annotation( ) Annotation( ) "Permanent enlargement of the airways of the lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Permanent enlargement of the airways of the lungs") AnnotationAssertion( "HP:0002110") AnnotationAssertion(rdfs:label "Bronchiectasis") SubClassOf( ) @@ -41113,7 +41106,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Pulmonary infiltrates) AnnotationAssertion( "UMLS:C0235896") -AnnotationAssertion(Annotation( ) Annotation( ) "Lung infiltrates") +AnnotationAssertion(Annotation( ) Annotation( ) "Lung infiltrates") AnnotationAssertion( "Pulmonic infiltration") AnnotationAssertion( "HP:0002113") AnnotationAssertion(rdfs:label "Pulmonary infiltrates") @@ -41159,7 +41152,7 @@ AnnotationAssertion( "UMLS:C0235946") AnnotationAssertion( "Cerebral cortex atrophy") AnnotationAssertion( "Cortical atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in size of the outer layer of the brain due to loss of brain cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in size of the outer layer of the brain due to loss of brain cells") AnnotationAssertion( "HP:0002120") AnnotationAssertion(rdfs:comment "Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.") AnnotationAssertion(rdfs:label "Cerebral cortical atrophy") @@ -41180,7 +41173,7 @@ AnnotationAssertion( "UMLS:C0014553") AnnotationAssertion( "Absence seizure") AnnotationAssertion(Annotation( ) "Absence seizures") -AnnotationAssertion(Annotation( ) Annotation( ) "Brief seizures with staring spells") +AnnotationAssertion(Annotation( ) Annotation( ) "Brief seizures with staring spells") AnnotationAssertion(Annotation( ) "Generalised non-motor (absence) seizure") AnnotationAssertion(Annotation( ) "Generalised non-motor seizure") AnnotationAssertion( "Petit mal") @@ -41228,7 +41221,7 @@ AnnotationAssertion(Annotation( "MSH:D065706") AnnotationAssertion( "SNOMEDCT_US:4945003") AnnotationAssertion( "UMLS:C0266464") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "More grooves in brain") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "More grooves in brain") AnnotationAssertion( "HP:0002126") AnnotationAssertion(rdfs:comment "Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.") AnnotationAssertion(rdfs:label "Polymicrogyria") @@ -41238,7 +41231,7 @@ SubClassOf( "Any structural anomaly that affects the upper motor neuron.") AnnotationAssertion( "UMLS:C4025723") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of upper motor neuron") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of upper motor neuron") AnnotationAssertion( "HP:0002127") AnnotationAssertion(rdfs:comment "previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal))") AnnotationAssertion(rdfs:label "Abnormal upper motor neuron morphology") @@ -41264,7 +41257,7 @@ SubClassOf( ) Annotation( "PMID:9279052") "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.") AnnotationAssertion( "MSH:D065708") AnnotationAssertion( "UMLS:C4082173") -AnnotationAssertion(Annotation( ) Annotation( ) "Cavity within brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Cavity within brain") AnnotationAssertion( "HP:0002132") AnnotationAssertion(rdfs:comment "Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies.") AnnotationAssertion(rdfs:label "Porencephalic cyst") @@ -41278,7 +41271,7 @@ AnnotationAssertion( "UMLS:C0038220") AnnotationAssertion( "Prolonged seizure") AnnotationAssertion( "Repeated seizure without recovery") -AnnotationAssertion(Annotation( ) Annotation( ) "Repeated seizures without recovery between them") +AnnotationAssertion(Annotation( ) Annotation( ) "Repeated seizures without recovery between them") AnnotationAssertion( "HP:0002133") AnnotationAssertion(rdfs:comment "In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown.") AnnotationAssertion(rdfs:label "Status epilepticus") @@ -41321,7 +41314,7 @@ AnnotationAssertion(Annotation( "UMLS:C0856863") AnnotationAssertion( "Broad based gait") AnnotationAssertion( "Wide based gait") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide based walk") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide based walk") AnnotationAssertion( "Wide-based gait") AnnotationAssertion( "HP:0002136") AnnotationAssertion(rdfs:label "Broad-based gait") @@ -41366,9 +41359,9 @@ SubClassOf( "HP:0100683") AnnotationAssertion( "UMLS:C1836150") -AnnotationAssertion(Annotation( ) "Abnormality of balance") -AnnotationAssertion(Annotation( ) "Abnormality of equilibrium") -AnnotationAssertion(Annotation( ) Annotation( ) "Imbalanced walk") +AnnotationAssertion(Annotation( ) "Abnormality of balance") +AnnotationAssertion(Annotation( ) "Abnormality of equilibrium") +AnnotationAssertion(Annotation( ) Annotation( ) "Imbalanced walk") AnnotationAssertion( "HP:0002141") AnnotationAssertion(rdfs:label "Gait imbalance") SubClassOf( ) @@ -41380,8 +41373,8 @@ AnnotationAssertion( "SNOMEDCT_US:48522003") AnnotationAssertion( "UMLS:C0037928") AnnotationAssertion( "UMLS:C4025722") -AnnotationAssertion(Annotation( ) "Abnormality of the spinal cord") -AnnotationAssertion(Annotation( ) "Spinal cord disease") +AnnotationAssertion(Annotation( ) "Abnormality of the spinal cord") +AnnotationAssertion(Annotation( ) "Spinal cord disease") AnnotationAssertion( "Spinal cord pathology") AnnotationAssertion( "HP:0002143") AnnotationAssertion(rdfs:label "Abnormal spinal cord morphology") @@ -41416,7 +41409,7 @@ AnnotationAssertion( "SNOMEDCT_US:4996001") AnnotationAssertion( "UMLS:C0085682") AnnotationAssertion( "Hypophosphataemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood phosphate level") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood phosphate level") AnnotationAssertion( "HP:0002148") AnnotationAssertion(rdfs:label "Hypophosphatemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -41428,7 +41421,7 @@ AnnotationAssertion(Annotation( "MSH:D033461") AnnotationAssertion( "SNOMEDCT_US:35885006") AnnotationAssertion( "UMLS:C0740394") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood uric acid level") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood uric acid level") AnnotationAssertion( "Hyperuricaemia") AnnotationAssertion( "HP:0002149") AnnotationAssertion(rdfs:label "Hyperuricemia") @@ -41441,7 +41434,7 @@ SubClassOf( "MSH:D053565") AnnotationAssertion( "SNOMEDCT_US:71938000") AnnotationAssertion( "UMLS:C0020438") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated urine calcium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated urine calcium levels") AnnotationAssertion( "Hypercalcinuria") AnnotationAssertion( "HP:0002150") AnnotationAssertion(rdfs:label "Hypercalciuria") @@ -41452,7 +41445,7 @@ SubClassOf( ) Annotation( "PMID:24079682") "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).") AnnotationAssertion( "HP:0003638") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Higher than normal levels of lactate in blood") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Higher than normal levels of lactate in blood") AnnotationAssertion( "UMLS:C1836440") AnnotationAssertion( "Increased blood lactate") AnnotationAssertion( "HP:0002151") @@ -41478,7 +41471,7 @@ AnnotationAssertion( "SNOMEDCT_US:166689004") AnnotationAssertion( "SNOMEDCT_US:238142003") AnnotationAssertion( "UMLS:C0020461") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated serum potassium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated serum potassium levels") AnnotationAssertion( "HP:0002153") AnnotationAssertion(rdfs:label "Hyperkalemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -41489,7 +41482,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:16902722") Annotation( "PMID:4696900") "An elevated concentration of glycine in the blood.") AnnotationAssertion( "SNOMEDCT_US:64654004") AnnotationAssertion( "UMLS:C0268559") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood glycine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood glycine levels") AnnotationAssertion( "Hyperglycinaemia") AnnotationAssertion( "HP:0002154") AnnotationAssertion(rdfs:comment "Normal blood glycine levels are around 200-250 micromole per liter.") @@ -41506,9 +41499,9 @@ AnnotationAssertion( "UMLS:C1522137") AnnotationAssertion(Annotation( ) "Increased circulating Tg levels") AnnotationAssertion(Annotation( ) "Increased plasma Tg levels") -AnnotationAssertion(Annotation( ) "Increased plasma triglycerides") -AnnotationAssertion(Annotation( ) "Increased serum triglycerides") -AnnotationAssertion(Annotation( ) "Increased triglycerides") +AnnotationAssertion(Annotation( ) "Increased plasma triglycerides") +AnnotationAssertion(Annotation( ) "Increased serum triglycerides") +AnnotationAssertion(Annotation( ) "Increased triglycerides") AnnotationAssertion( "HP:0002155") AnnotationAssertion(rdfs:label "Hypertriglyceridemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -41520,7 +41513,7 @@ AnnotationAssertion(Annotation( "MSH:D006712") AnnotationAssertion( "SNOMEDCT_US:11282001") AnnotationAssertion( "UMLS:C0019880") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine homocystine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine homocystine levels") AnnotationAssertion( "HP:0002156") AnnotationAssertion(rdfs:comment "Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency.") AnnotationAssertion(rdfs:label "Homocystinuria") @@ -41554,7 +41547,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of homocystine in the blood.") AnnotationAssertion( "UMLS:C3806347") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood homocystine") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood homocystine") AnnotationAssertion( "Homocystinemia") AnnotationAssertion( "HP:0002160") AnnotationAssertion(rdfs:comment "Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar.") @@ -41568,7 +41561,7 @@ AnnotationAssertion(Annotation( "MSH:D020167") AnnotationAssertion( "SNOMEDCT_US:58558003") AnnotationAssertion( "UMLS:C0268553") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood lysine") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood lysine") AnnotationAssertion( "HP:0002161") AnnotationAssertion(rdfs:comment "Normal blood lysine levels are around 180-200 micromole per liter.") AnnotationAssertion(rdfs:label "Hyperlysinemia") @@ -41579,7 +41572,7 @@ SubClassOf( "PMID:19125436") "Hair on the neck extends more inferiorly than usual.") AnnotationAssertion( "UMLS:C1855728") -AnnotationAssertion(Annotation( ) Annotation( ) "Low hairline at back of neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Low hairline at back of neck") AnnotationAssertion( "Low posterior hair line") AnnotationAssertion( "HP:0002162") AnnotationAssertion( ) @@ -41599,7 +41592,7 @@ AnnotationAssertion( "HP:0008409") AnnotationAssertion( "HP:0008412") AnnotationAssertion( "UMLS:C1834405") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Atypical nail growth") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Atypical nail growth") AnnotationAssertion( "Dysplastic nails") AnnotationAssertion( "Onychodysplasia") AnnotationAssertion( "HP:0002164") @@ -41621,14 +41614,14 @@ SubClassOf( ) "A decrease in the ability to perceive vibration in the legs.") AnnotationAssertion( "UMLS:C1849134") -AnnotationAssertion(Annotation( ) "Decreased lower limb vibratory sense") -AnnotationAssertion(Annotation( ) "Decreased vibratory sense in lower limbs") -AnnotationAssertion(Annotation( ) "Decreased vibratory sense in the lower extremities") -AnnotationAssertion(Annotation( ) "Decreased vibratory sense in the lower limbs") -AnnotationAssertion(Annotation( ) "Diminished vibratory sensation in the legs") +AnnotationAssertion(Annotation( ) "Decreased lower limb vibratory sense") +AnnotationAssertion(Annotation( ) "Decreased vibratory sense in lower limbs") +AnnotationAssertion(Annotation( ) "Decreased vibratory sense in the lower extremities") +AnnotationAssertion(Annotation( ) "Decreased vibratory sense in the lower limbs") +AnnotationAssertion(Annotation( ) "Diminished vibratory sensation in the legs") AnnotationAssertion( "Distal sensory loss, especially vibratory sense") AnnotationAssertion( "Distal vibratory impairment of the lower limbs") -AnnotationAssertion(Annotation( ) "Impaired vibration sensation in the lower limbs") +AnnotationAssertion(Annotation( ) "Impaired vibration sensation in the lower limbs") AnnotationAssertion( "HP:0002166") AnnotationAssertion(rdfs:label "Impaired vibration sensation in the lower limbs") SubClassOf( ) @@ -41656,7 +41649,7 @@ AnnotationAssertion( "SNOMEDCT_US:77420001") AnnotationAssertion( "UMLS:C0278184") AnnotationAssertion( "UMLS:C0522198") -AnnotationAssertion(Annotation( ) Annotation( ) "Explosive speech") +AnnotationAssertion(Annotation( ) Annotation( ) "Explosive speech") AnnotationAssertion( "HP:0002168") AnnotationAssertion(rdfs:label "Scanning speech") SubClassOf( ) @@ -41666,7 +41659,7 @@ SubClassOf( ) "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.") AnnotationAssertion( "SNOMEDCT_US:36649002") AnnotationAssertion( "UMLS:C0009024") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary rhythmic muscular contractions and relaxations") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary rhythmic muscular contractions and relaxations") AnnotationAssertion( "HP:0002169") AnnotationAssertion(rdfs:comment "Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal.") AnnotationAssertion(rdfs:label "Clonus") @@ -41680,7 +41673,7 @@ AnnotationAssertion(Annotation( "MSH:D020300") AnnotationAssertion( "SNOMEDCT_US:1386000") AnnotationAssertion( "UMLS:C0151699") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding within the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding within the skull") AnnotationAssertion(Annotation( ) "Intracranial haemorrhage") AnnotationAssertion( "HP:0002170") AnnotationAssertion(rdfs:label "Intracranial hemorrhage") @@ -41707,7 +41700,7 @@ SubClassOf( "PMID:25613349") "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.") AnnotationAssertion( "UMLS:C1843921") -AnnotationAssertion(Annotation( ) Annotation( ) "Balance impairment") +AnnotationAssertion(Annotation( ) Annotation( ) "Balance impairment") AnnotationAssertion( "Abnormal retropulsion test") AnnotationAssertion( "Imbalance") AnnotationAssertion( "HP:0002172") @@ -41741,7 +41734,7 @@ AnnotationAssertion(Annotation( "MSH:D013117") AnnotationAssertion( "SNOMEDCT_US:71286001") AnnotationAssertion( "UMLS:C0037926") -AnnotationAssertion(Annotation( ) Annotation( ) "Pressure on spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Pressure on spinal cord") AnnotationAssertion( "HP:0002176") AnnotationAssertion(rdfs:comment "Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors.") AnnotationAssertion(rdfs:label "Spinal cord compression") @@ -41766,7 +41759,7 @@ AnnotationAssertion( "UMLS:C0027746") AnnotationAssertion( "UMLS:C0524851") AnnotationAssertion( "UMLS:C4020854") -AnnotationAssertion(Annotation( ) Annotation( ) "Ongoing loss of nerve cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Ongoing loss of nerve cells") AnnotationAssertion( "Neuro-degenerative disease") AnnotationAssertion( "Neurodegenerative disease") AnnotationAssertion( "Progressive neurodegenerative disorder") @@ -41778,7 +41771,7 @@ SubClassOf( (Cerebral edema) AnnotationAssertion(Annotation( ) "Abnormal accumulation of fluid in the brain.") -AnnotationAssertion(Annotation( ) Annotation( ) "Brain swelling") +AnnotationAssertion(Annotation( ) Annotation( ) "Brain swelling") AnnotationAssertion( "MSH:D001929") AnnotationAssertion( "SNOMEDCT_US:2032001") AnnotationAssertion( "UMLS:C0006114") @@ -41786,7 +41779,7 @@ AnnotationAssertion( "Brain edema") AnnotationAssertion( "Brain oedema") AnnotationAssertion(Annotation( ) "Cerebral oedema") -AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of brain") AnnotationAssertion( "HP:0002181") AnnotationAssertion(rdfs:comment "Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging.") AnnotationAssertion(rdfs:label "Cerebral edema") @@ -41805,7 +41798,7 @@ AnnotationAssertion(dcterms:contributor "MSH:D012001") AnnotationAssertion( "SNOMEDCT_US:313387002") AnnotationAssertion( "UMLS:C0751466") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Fear of loud sounds") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Fear of loud sounds") AnnotationAssertion( "HP:0002183") AnnotationAssertion(rdfs:comment "Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest.") AnnotationAssertion(rdfs:label "Phonophobia") @@ -41845,7 +41838,7 @@ AnnotationAssertion( "SNOMEDCT_US:31216003") AnnotationAssertion( "UMLS:C0020796") AnnotationAssertion( "UMLS:C3161330") -AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability") Annotation( ) "IQ less than 20") +AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability") Annotation( ) "IQ less than 20") AnnotationAssertion( "Mental retardation, profound") AnnotationAssertion( "Profound mental retardation") AnnotationAssertion( "HP:0002187") @@ -41914,7 +41907,7 @@ AnnotationAssertion( "SNOMEDCT_US:430099007") AnnotationAssertion( "UMLS:C1837658") AnnotationAssertion( "Delayed gross motor skills") -AnnotationAssertion(Annotation( ) "Delayed motor skills") +AnnotationAssertion(Annotation( ) "Delayed motor skills") AnnotationAssertion( "Developmental delay, gross motor") AnnotationAssertion( "Gross motor delay") AnnotationAssertion( "Limited gross motor development") @@ -41980,7 +41973,7 @@ SubClassOf( (Hypocalcemic seizures) AnnotationAssertion( "UMLS:C1855841") -AnnotationAssertion(Annotation( ) Annotation( ) "Low calcium seizures") +AnnotationAssertion(Annotation( ) Annotation( ) "Low calcium seizures") AnnotationAssertion( "Seizures due to hypocalcemia") AnnotationAssertion( "HP:0002199") AnnotationAssertion(rdfs:label "Hypocalcemic seizures") @@ -42002,7 +41995,7 @@ AnnotationAssertion(Annotation( "MSH:D010996") AnnotationAssertion( "SNOMEDCT_US:60046008") AnnotationAssertion( "UMLS:C0032227") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid around lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid around lungs") AnnotationAssertion( "HP:0002202") AnnotationAssertion(rdfs:label "Pleural effusion") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42026,7 +42019,7 @@ AnnotationAssertion( "MSH:D011655") AnnotationAssertion( "SNOMEDCT_US:59282003") AnnotationAssertion( "UMLS:C0034065") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in artery of lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in artery of lung") AnnotationAssertion( "HP:0002204") AnnotationAssertion(rdfs:label "Pulmonary embolism") SubClassOf( ) @@ -42037,11 +42030,11 @@ AnnotationAssertion(Annotation( "HP:0002782") AnnotationAssertion( "HP:0002873") AnnotationAssertion( "UMLS:C3806482") -AnnotationAssertion(Annotation( ) "Frequent respiratory infections") -AnnotationAssertion(Annotation( ) "Multiple respiratory infections") -AnnotationAssertion(Annotation( ) "Recurrent respiratory infections") -AnnotationAssertion(Annotation( ) "Susceptibility to respiratory infections") -AnnotationAssertion(Annotation( ) Annotation( ) "respiratory infections, recurrent") +AnnotationAssertion(Annotation( ) "Frequent respiratory infections") +AnnotationAssertion(Annotation( ) "Multiple respiratory infections") +AnnotationAssertion(Annotation( ) "Recurrent respiratory infections") +AnnotationAssertion(Annotation( ) "Susceptibility to respiratory infections") +AnnotationAssertion(Annotation( ) Annotation( ) "respiratory infections, recurrent") AnnotationAssertion( "HP:0002205") AnnotationAssertion(rdfs:label "Recurrent respiratory infections") SubClassOf( ) @@ -42071,12 +42064,12 @@ SubClassOf( ) "Hair shafts are rough in texture.") AnnotationAssertion( "HP:0200078") -AnnotationAssertion(Annotation( ) Annotation( ) "Rough hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Rough hair texture") AnnotationAssertion( "SNOMEDCT_US:48610005") AnnotationAssertion( "UMLS:C0277959") AnnotationAssertion( "UMLS:C4072834") -AnnotationAssertion(Annotation( ) "Coarse hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Coarse hair texture") +AnnotationAssertion(Annotation( ) "Coarse hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Coarse hair texture") AnnotationAssertion( "HP:0002208") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Coarse hair") @@ -42100,13 +42093,13 @@ AnnotationAssertion( "UMLS:C1873509") AnnotationAssertion( "Decreased number of scalp follicles") AnnotationAssertion( "Hypotrichosis on scalp") -AnnotationAssertion(Annotation( ) "Reduced amount of scalp hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced/lack of hair on scalp") +AnnotationAssertion(Annotation( ) "Reduced amount of scalp hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced/lack of hair on scalp") AnnotationAssertion( "Reduction in the number of scalp follicles") AnnotationAssertion( "Scalp hypotrichosis") -AnnotationAssertion(Annotation( ) "Sparse scalp hair") -AnnotationAssertion(Annotation( ) "Thinning scalp hair") -AnnotationAssertion(Annotation( ) "Thin scalp hair") +AnnotationAssertion(Annotation( ) "Sparse scalp hair") +AnnotationAssertion(Annotation( ) "Thinning scalp hair") +AnnotationAssertion(Annotation( ) "Thin scalp hair") AnnotationAssertion( "HP:0002209") AnnotationAssertion(rdfs:comment "Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist.") AnnotationAssertion(rdfs:label "Sparse scalp hair") @@ -42121,7 +42114,7 @@ AnnotationAssertion( "UMLS:C0344312") AnnotationAssertion(Annotation( ) "Poliosis of anterior hair") AnnotationAssertion(Annotation( ) "Poliosis of forelock hair") -AnnotationAssertion(Annotation( ) Annotation( ) "White part of hair above forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "White part of hair above forehead") AnnotationAssertion( "HP:0002211") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "White forelock") @@ -42131,7 +42124,7 @@ SubClassOf( "SNOMEDCT_US:225570000") AnnotationAssertion( "UMLS:C0558165") -AnnotationAssertion(Annotation( ) "Curly hair") +AnnotationAssertion(Annotation( ) "Curly hair") AnnotationAssertion( "HP:0002212") AnnotationAssertion(rdfs:label "Curly hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42143,12 +42136,12 @@ AnnotationAssertion(Annotation( "HP:0200132") AnnotationAssertion( "SNOMEDCT_US:247546006") AnnotationAssertion( "UMLS:C0423867") -AnnotationAssertion(Annotation( ) "Fine hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Fine hair shaft") -AnnotationAssertion(Annotation( ) Annotation( ) "Fine hair texture") +AnnotationAssertion(Annotation( ) "Fine hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Fine hair shaft") +AnnotationAssertion(Annotation( ) Annotation( ) "Fine hair texture") AnnotationAssertion( "Thin hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin hair shaft") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin hair shaft") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin hair texture") AnnotationAssertion( "Thinned hair") AnnotationAssertion( "HP:0002213") AnnotationAssertion( ) @@ -42165,8 +42158,8 @@ AnnotationAssertion( "Sparse axillary and pubic hair") AnnotationAssertion( "Sparse scalp, axillary, and pubic hair") AnnotationAssertion( "UMLS:C1858574") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited armpit hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Little underarm hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited armpit hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Little underarm hair") AnnotationAssertion( "sparse to absent axillary hair") AnnotationAssertion( "HP:0002215") AnnotationAssertion(rdfs:label "Sparse axillary hair") @@ -42179,15 +42172,15 @@ SubClassOf( ) "Development of gray hair at a younger than normal age.") AnnotationAssertion( "SNOMEDCT_US:387833009") AnnotationAssertion( "UMLS:C0263498") -AnnotationAssertion(Annotation( ) "Early graying") +AnnotationAssertion(Annotation( ) "Early graying") AnnotationAssertion(Annotation( ) "Early greying") -AnnotationAssertion(Annotation( ) "Premature graying") -AnnotationAssertion(Annotation( ) "Premature graying of hair") -AnnotationAssertion(Annotation( ) "Premature greying") +AnnotationAssertion(Annotation( ) "Premature graying") +AnnotationAssertion(Annotation( ) "Premature graying of hair") +AnnotationAssertion(Annotation( ) "Premature greying") AnnotationAssertion(Annotation( ) "Premature greying of hair") -AnnotationAssertion(Annotation( ) "Premature hair graying") +AnnotationAssertion(Annotation( ) "Premature hair graying") AnnotationAssertion(Annotation( ) "Premature hair greying") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature graying of the hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature graying of the hair") AnnotationAssertion(Annotation( ) "Premature greying of the hair") AnnotationAssertion( "HP:0002216") AnnotationAssertion( ) @@ -42202,10 +42195,10 @@ AnnotationAssertion( "HP:0004770") AnnotationAssertion( "HP:0004781") AnnotationAssertion( "UMLS:C1832348") -AnnotationAssertion(Annotation( ) "Slow growing hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Slow rate of hair growth") -AnnotationAssertion(Annotation( ) Annotation( ) "Slow speed of hair growth") -AnnotationAssertion(Annotation( ) "Slow-growing hair") +AnnotationAssertion(Annotation( ) "Slow growing hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Slow rate of hair growth") +AnnotationAssertion(Annotation( ) Annotation( ) "Slow speed of hair growth") +AnnotationAssertion(Annotation( ) "Slow-growing hair") AnnotationAssertion( "HP:0002217") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Slow-growing hair") @@ -42215,10 +42208,10 @@ SubClassOf( ) "Hypopigmented hair that appears silver-gray.") AnnotationAssertion( "UMLS:C1836576") -AnnotationAssertion(Annotation( ) "Silver-gray hair") -AnnotationAssertion(Annotation( ) "Silver-gray hair color") +AnnotationAssertion(Annotation( ) "Silver-gray hair") +AnnotationAssertion(Annotation( ) "Silver-gray hair color") AnnotationAssertion(Annotation( ) "Silver-gray hair colour") -AnnotationAssertion(Annotation( ) "Silvery-gray hair") +AnnotationAssertion(Annotation( ) "Silvery-gray hair") AnnotationAssertion( "HP:0002218") AnnotationAssertion(rdfs:label "Silver-gray hair") SubClassOf( ) @@ -42228,7 +42221,7 @@ SubClassOf( "Excessive, increased hair growth located in the facial region.") AnnotationAssertion( "MSH:C565029") AnnotationAssertion( "UMLS:C1851400") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased facial hair growth") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased facial hair growth") AnnotationAssertion( "HP:0002219") AnnotationAssertion(rdfs:label "Facial hypertrichosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42261,13 +42254,13 @@ AnnotationAssertion( "UMLS:C0578682") AnnotationAssertion( "UMLS:C4280581") AnnotationAssertion( "UMLS:C4280582") -AnnotationAssertion(Annotation( ) "Absent eyebrow") +AnnotationAssertion(Annotation( ) "Absent eyebrow") AnnotationAssertion( "Absent eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyebrows") AnnotationAssertion(Annotation( ) "Agenesis of eyebrows") AnnotationAssertion(Annotation( ) "Aplasia of eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyebrows") AnnotationAssertion( "HP:0002223") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Absent eyebrow") @@ -42278,17 +42271,17 @@ SubClassOf( (Woolly hair) AnnotationAssertion(Annotation( "PMID:20464096") "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.") -AnnotationAssertion(Annotation( ) Annotation( ) "Nappy hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Nappy hair texture") AnnotationAssertion(Annotation(rdfs:label "Wooly hair") "MEDDRA:10048017") AnnotationAssertion( "SNOMEDCT_US:52564001") AnnotationAssertion( "UMLS:C0343073") AnnotationAssertion( "UMLS:C4072835") AnnotationAssertion( "UMLS:C4072836") AnnotationAssertion( "UMLS:C4073292") -AnnotationAssertion(Annotation( ) Annotation( ) "Kinked hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Kinked hair") AnnotationAssertion( "Wooly hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Afro-textured hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Kinky hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Afro-textured hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Kinky hair texture") AnnotationAssertion( "HP:0002224") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "See figures in PMID:20464096.") @@ -42300,8 +42293,8 @@ SubClassOf( ) "Reduced number or density of pubic hair.") AnnotationAssertion( "HP:0004778") AnnotationAssertion( "UMLS:C1858573") -AnnotationAssertion(Annotation( ) "Decreased sexual hair") -AnnotationAssertion(Annotation( ) "Sparse pubic hair") +AnnotationAssertion(Annotation( ) "Decreased sexual hair") +AnnotationAssertion(Annotation( ) "Sparse pubic hair") AnnotationAssertion( "sparse to absent pubic hair") AnnotationAssertion( "HP:0002225") AnnotationAssertion( ) @@ -42320,10 +42313,10 @@ AnnotationAssertion( "UMLS:C4280580") AnnotationAssertion( "Depigmented eyebrow") AnnotationAssertion( "Hypopigmented eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Pale eyebrow") -AnnotationAssertion(Annotation( ) "White eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Grey eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Blonde eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Pale eyebrow") +AnnotationAssertion(Annotation( ) "White eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Grey eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Blonde eyebrow") AnnotationAssertion( "HP:0002226") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "White eyebrow") @@ -42336,11 +42329,11 @@ SubClassOf( ) "White color (lack of pigmentation) of the eyelashes.") AnnotationAssertion( "UMLS:C1836736") AnnotationAssertion( "UMLS:C4280578") -AnnotationAssertion(Annotation( ) Annotation( ) "Blonde eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Blonde eyelashes") AnnotationAssertion( "Depigmented eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Pale eyelashes") -AnnotationAssertion(Annotation( ) "White eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Grey eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Pale eyelashes") +AnnotationAssertion(Annotation( ) "White eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Grey eyelashes") AnnotationAssertion( "HP:0002227") AnnotationAssertion(rdfs:label "White eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42358,7 +42351,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Abnormally increased hair growth over much of the entire body.") AnnotationAssertion( "UMLS:C1849211") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive hairiness over body") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive hairiness over body") AnnotationAssertion(Annotation( ) "Generalised hirsutism") AnnotationAssertion( "HP:0002230") AnnotationAssertion(rdfs:label "Generalized hirsutism") @@ -42370,7 +42363,7 @@ AnnotationAssertion(Annotation( "UMLS:C1862863") AnnotationAssertion( "Limited body hair") AnnotationAssertion( "Little body hair") -AnnotationAssertion(Annotation( ) "Sparse body hair") +AnnotationAssertion(Annotation( ) "Sparse body hair") AnnotationAssertion( "Sparse to absent body hair") AnnotationAssertion( "HP:0002231") AnnotationAssertion( ) @@ -42388,7 +42381,7 @@ AnnotationAssertion( "UMLS:C0002171") AnnotationAssertion( "UMLS:C1862862") AnnotationAssertion( "Alopecia areata") -AnnotationAssertion(Annotation( ) "Patchy baldness") +AnnotationAssertion(Annotation( ) "Patchy baldness") AnnotationAssertion( "HP:0002232") AnnotationAssertion(rdfs:label "Patchy alopecia") SubClassOf( ) @@ -42398,7 +42391,7 @@ SubClassOf( ) "Loss of scalp hair at an earlier than normal age.") AnnotationAssertion( "UMLS:C4025718") -AnnotationAssertion(Annotation( ) "Early balding") +AnnotationAssertion(Annotation( ) "Early balding") AnnotationAssertion( "HP:0002234") AnnotationAssertion(rdfs:label "Early balding") SubClassOf( ) @@ -42418,12 +42411,12 @@ AnnotationAssertion(Annotation( "UMLS:C1185616") AnnotationAssertion( "UMLS:C2675540") AnnotationAssertion( "UMLS:C3275754") -AnnotationAssertion(Annotation( ) "Cowlick") -AnnotationAssertion(Annotation( ) Annotation( ) "Frontal Cowlick") -AnnotationAssertion(Annotation( ) "Frontal upsweep of hair") -AnnotationAssertion(Annotation( ) "Upswept frontal hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Upswept frontal hair pattern") -AnnotationAssertion(Annotation( ) Annotation( ) "Upswept frontal hairline") +AnnotationAssertion(Annotation( ) "Cowlick") +AnnotationAssertion(Annotation( ) Annotation( ) "Frontal Cowlick") +AnnotationAssertion(Annotation( ) "Frontal upsweep of hair") +AnnotationAssertion(Annotation( ) "Upswept frontal hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Upswept frontal hair pattern") +AnnotationAssertion(Annotation( ) Annotation( ) "Upswept frontal hairline") AnnotationAssertion( "HP:0002236") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Frontal upsweep of hair") @@ -42437,7 +42430,7 @@ AnnotationAssertion( "UMLS:C0017181") AnnotationAssertion(Annotation( ) "GI haemorrhage") AnnotationAssertion(Annotation( ) "GI hemorrhage") -AnnotationAssertion(Annotation( ) "Gastrointestinal bleeding") +AnnotationAssertion(Annotation( ) "Gastrointestinal bleeding") AnnotationAssertion(Annotation( ) "Gastrointestinal haemorrhage") AnnotationAssertion( "HP:0002239") AnnotationAssertion(rdfs:label "Gastrointestinal hemorrhage") @@ -42453,7 +42446,7 @@ AnnotationAssertion( "MSH:D006529") AnnotationAssertion( "SNOMEDCT_US:80515008") AnnotationAssertion( "UMLS:C0019209") -AnnotationAssertion(Annotation( ) "Enlarged liver") +AnnotationAssertion(Annotation( ) "Enlarged liver") AnnotationAssertion( "HP:0002240") AnnotationAssertion(rdfs:label "Hepatomegaly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42467,7 +42460,7 @@ AnnotationAssertion( "MSH:D007410") AnnotationAssertion( "SNOMEDCT_US:85919009") AnnotationAssertion( "UMLS:C0021831") -AnnotationAssertion(Annotation( ) "Abnormality of the intestine") +AnnotationAssertion(Annotation( ) "Abnormality of the intestine") AnnotationAssertion( "Enteropathy") AnnotationAssertion( "HP:0002242") AnnotationAssertion(rdfs:label "Abnormal intestine morphology") @@ -42527,7 +42520,7 @@ AnnotationAssertion(Annotation(rdfs:label "Duodenal atresia") "MSH:C535720") AnnotationAssertion( "SNOMEDCT_US:51118003") AnnotationAssertion( "UMLS:C0266174") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence or narrowing of first part of small bowel") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence or narrowing of first part of small bowel") AnnotationAssertion( "HP:0002247") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Duodenal atresia") @@ -42541,7 +42534,7 @@ AnnotationAssertion(Annotation( "MSH:D006396") AnnotationAssertion( "SNOMEDCT_US:8765009") AnnotationAssertion( "UMLS:C0018926") -AnnotationAssertion(Annotation( ) Annotation( ) "Vomitting blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Vomitting blood") AnnotationAssertion( "HP:0002248") AnnotationAssertion(rdfs:comment "The source of hematemesis is generally the upper gastrointestinal tract.") AnnotationAssertion(rdfs:label "Hematemesis") @@ -42559,7 +42552,7 @@ AnnotationAssertion( "UMLS:C0025222") AnnotationAssertion( "UMLS:C0474585") AnnotationAssertion(Annotation( ) "Black faeces") -AnnotationAssertion(Annotation( ) Annotation( ) "Black feces") +AnnotationAssertion(Annotation( ) Annotation( ) "Black feces") AnnotationAssertion( "HP:0002249") AnnotationAssertion(rdfs:label "Melena") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -42570,7 +42563,7 @@ SubClassOf( ) "Any abnormality of the large intestine.") AnnotationAssertion( "UMLS:C4025715") -AnnotationAssertion(Annotation( ) "Abnormality of the large intestine") +AnnotationAssertion(Annotation( ) "Abnormality of the large intestine") AnnotationAssertion( "HP:0002250") AnnotationAssertion(rdfs:comment "The large intestine comprises the cecum and colon.") AnnotationAssertion(rdfs:label "Abnormal large intestine morphology") @@ -42593,7 +42586,7 @@ AnnotationAssertion( "UMLS:C0019569") AnnotationAssertion( "UMLS:C0025160") AnnotationAssertion( "Congenital megacolon") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged colon lacking nerve cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged colon lacking nerve cells") AnnotationAssertion( "Hirschsprung megacolon") AnnotationAssertion( "Megacolon") AnnotationAssertion( "Hirschsprung disease") @@ -42658,11 +42651,11 @@ SubClassOf( "PMID:19125428") "More pronounced paramedian peaks and median notch of the Cupid's bow.") AnnotationAssertion( "UMLS:C1850629") -AnnotationAssertion(Annotation( ) "Cupid bow upper lip") +AnnotationAssertion(Annotation( ) "Cupid bow upper lip") AnnotationAssertion( "Cupid's bow, accentuated") -AnnotationAssertion(Annotation( ) "Cupid-bow shaped upper lip") -AnnotationAssertion(Annotation( ) "Exaggerated cupid's bow") -AnnotationAssertion(Annotation( ) "Prominent cupid-bow of upper lip") +AnnotationAssertion(Annotation( ) "Cupid-bow shaped upper lip") +AnnotationAssertion(Annotation( ) "Exaggerated cupid's bow") +AnnotationAssertion(Annotation( ) "Prominent cupid-bow of upper lip") AnnotationAssertion( "HP:0002263") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This may be associated with a Deep philtrum, but that finding should be coded separately.") @@ -42672,7 +42665,7 @@ SubClassOf( (Large fleshy ears) AnnotationAssertion( "UMLS:C3808403") -AnnotationAssertion(Annotation( ) "Large fleshy ears") +AnnotationAssertion(Annotation( ) "Large fleshy ears") AnnotationAssertion( "HP:0002265") AnnotationAssertion(rdfs:label "Large fleshy ears") SubClassOf( ) @@ -42770,7 +42763,7 @@ SubClassOf( (Poor motor coordination) AnnotationAssertion( "UMLS:C1848453") -AnnotationAssertion(Annotation( ) "Poor motor coordination") +AnnotationAssertion(Annotation( ) "Poor motor coordination") AnnotationAssertion( "HP:0002275") AnnotationAssertion(rdfs:label "Poor motor coordination") SubClassOf( ) @@ -42844,7 +42837,7 @@ AnnotationAssertion(Annotation( ) "Generalised brain degeneration") AnnotationAssertion(Annotation( ) "Generalised cerebral atrophy") AnnotationAssertion( "Generalized brain atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized brain degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized brain degeneration") AnnotationAssertion( "Generalized cerebral atrophy") AnnotationAssertion( "HP:0002283") AnnotationAssertion(rdfs:comment "Global brain atrophy can be visualized and quantified by magnetic resonance imaging.") @@ -42861,19 +42854,19 @@ AnnotationAssertion( "SNOMEDCT_US:297995004") AnnotationAssertion( "UMLS:C0239801") AnnotationAssertion( "UMLS:C1849221") -AnnotationAssertion(Annotation( ) "Blond hair") -AnnotationAssertion(Annotation( ) "Fair hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Fair hair color") +AnnotationAssertion(Annotation( ) "Blond hair") +AnnotationAssertion(Annotation( ) "Fair hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Fair hair color") AnnotationAssertion(Annotation( ) "Fair hair colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Flaxen hair color") +AnnotationAssertion(Annotation( ) Annotation( ) "Flaxen hair color") AnnotationAssertion(Annotation( ) "Flaxen hair colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Light colored hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Light colored hair") AnnotationAssertion(Annotation( ) "Light coloured hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Sandy hair color") +AnnotationAssertion(Annotation( ) Annotation( ) "Sandy hair color") AnnotationAssertion(Annotation( ) "Sandy hair colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Straw colored hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Straw colored hair") AnnotationAssertion(Annotation( ) "Straw coloured hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Towhead (hair color)") +AnnotationAssertion(Annotation( ) Annotation( ) "Towhead (hair color)") AnnotationAssertion( "HP:0002286") AnnotationAssertion(rdfs:comment "For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives.") AnnotationAssertion(rdfs:label "Fair hair") @@ -42906,8 +42899,8 @@ SubClassOf( ) "Circumscribed depigmentation of the hair of the head or the eyelashes.") AnnotationAssertion( "SNOMEDCT_US:14240001") AnnotationAssertion( "UMLS:C0221262") -AnnotationAssertion(Annotation( ) "Patch of white hair") -AnnotationAssertion(Annotation( ) "White patch") +AnnotationAssertion(Annotation( ) "Patch of white hair") +AnnotationAssertion(Annotation( ) "White patch") AnnotationAssertion( "HP:0002290") AnnotationAssertion(rdfs:label "Poliosis") SubClassOf( ) @@ -42915,12 +42908,12 @@ SubClassOf( (Frontal balding) AnnotationAssertion(Annotation( "PMID:19125436") "Absence of hair in the anterior midline and/or parietal areas.") -AnnotationAssertion(Annotation( ) Annotation( ) "Male pattern baldness") +AnnotationAssertion(Annotation( ) Annotation( ) "Male pattern baldness") AnnotationAssertion( "MSH:D000505") AnnotationAssertion( "SNOMEDCT_US:87872006") AnnotationAssertion( "UMLS:C1864584") AnnotationAssertion( "UMLS:C4083212") -AnnotationAssertion(Annotation( ) "Frontal balding") +AnnotationAssertion(Annotation( ) "Frontal balding") AnnotationAssertion( "HP:0002292") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Frontal balding") @@ -42929,9 +42922,9 @@ SubClassOf( (Alopecia of scalp) AnnotationAssertion( "HP:0200115") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of scalp hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Baldness") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing scalp hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of scalp hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Baldness") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing scalp hair") AnnotationAssertion( "MSH:D000505") AnnotationAssertion( "SNOMEDCT_US:278040002") AnnotationAssertion( "SNOMEDCT_US:298000004") @@ -42939,8 +42932,8 @@ AnnotationAssertion( "UMLS:C0002170") AnnotationAssertion( "UMLS:C0574769") AnnotationAssertion( "UMLS:C1850535") -AnnotationAssertion(Annotation( ) Annotation( ) "Pathologic hair loss from scalp") -AnnotationAssertion(Annotation( ) Annotation( ) "Scalp hair loss") +AnnotationAssertion(Annotation( ) Annotation( ) "Pathologic hair loss from scalp") +AnnotationAssertion(Annotation( ) Annotation( ) "Scalp hair loss") AnnotationAssertion( "HP:0002293") AnnotationAssertion(rdfs:label "Alopecia of scalp") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42958,14 +42951,14 @@ SubClassOf( (Red hair) -AnnotationAssertion(Annotation( ) Annotation( ) "Ginger hair color") +AnnotationAssertion(Annotation( ) Annotation( ) "Ginger hair color") AnnotationAssertion(Annotation( ) "Ginger hair colour") AnnotationAssertion( "SNOMEDCT_US:297997007") AnnotationAssertion( "UMLS:C0239803") -AnnotationAssertion(Annotation( ) "Red hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Red hair color") +AnnotationAssertion(Annotation( ) "Red hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Red hair color") AnnotationAssertion(Annotation( ) "Red hair colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Red head (hair color)") +AnnotationAssertion(Annotation( ) Annotation( ) "Red head (hair color)") AnnotationAssertion( "HP:0002297") AnnotationAssertion(rdfs:label "Red hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42976,7 +42969,7 @@ SubClassOf( "HP:0004548") AnnotationAssertion( "SNOMEDCT_US:297991008") AnnotationAssertion( "UMLS:C0574763") -AnnotationAssertion(Annotation( ) "Absent hair") +AnnotationAssertion(Annotation( ) "Absent hair") AnnotationAssertion( "HP:0002298") AnnotationAssertion(rdfs:label "Absent hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -42985,16 +42978,16 @@ SubClassOf( (Brittle hair) AnnotationAssertion(Annotation( ) "Fragile, easily breakable hair, i.e., with reduced tensile strength.") -AnnotationAssertion(Annotation( ) Annotation( ) "Easily breakable hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Fractured hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragile hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced tensile strength of hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Easily breakable hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Fractured hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragile hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced tensile strength of hair") AnnotationAssertion( "SNOMEDCT_US:25159003") AnnotationAssertion( "UMLS:C0263490") AnnotationAssertion( "UMLS:C1851868") AnnotationAssertion( "UMLS:C1970705") AnnotationAssertion( "UMLS:C4072837") -AnnotationAssertion(Annotation( ) "Brittle hair") +AnnotationAssertion(Annotation( ) "Brittle hair") AnnotationAssertion( "HP:0002299") AnnotationAssertion(rdfs:comment "Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia).") AnnotationAssertion(rdfs:label "Brittle hair") @@ -43005,8 +42998,8 @@ SubClassOf( "MSH:D009155") AnnotationAssertion( "SNOMEDCT_US:88052002") AnnotationAssertion( "UMLS:C0026884") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to speak") -AnnotationAssertion(Annotation( ) Annotation( ) "Muteness") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to speak") +AnnotationAssertion(Annotation( ) Annotation( ) "Muteness") AnnotationAssertion( "HP:0002300") AnnotationAssertion(rdfs:label "Mutism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -43019,7 +43012,7 @@ AnnotationAssertion(Annotation( "MSH:D006429") AnnotationAssertion( "SNOMEDCT_US:50582007") AnnotationAssertion( "UMLS:C0018991") -AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis on one side of body") +AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis on one side of body") AnnotationAssertion( "HP:0002301") AnnotationAssertion(rdfs:label "Hemiplegia") SubClassOf( ) @@ -43047,7 +43040,7 @@ AnnotationAssertion( "UMLS:C1845265") AnnotationAssertion( "Athetoid movements") AnnotationAssertion( "Involuntary writhing movements") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary writhing movements in fingers, hands, toes, and feet") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary writhing movements in fingers, hands, toes, and feet") AnnotationAssertion( "HP:0002305") AnnotationAssertion(rdfs:comment "Athetosis derives from the Greek word for 'changeable' or 'unfixed'.") AnnotationAssertion(rdfs:label "Athetosis") @@ -43063,8 +43056,8 @@ AnnotationAssertion( "SNOMEDCT_US:62718007") AnnotationAssertion( "UMLS:C0013132") AnnotationAssertion( "UMLS:C0037036") -AnnotationAssertion(Annotation( ) "Dribbling") -AnnotationAssertion(Annotation( ) "Drooling") +AnnotationAssertion(Annotation( ) "Dribbling") +AnnotationAssertion(Annotation( ) "Drooling") AnnotationAssertion(Annotation( ) "Sialorrhea") AnnotationAssertion( "HP:0002307") AnnotationAssertion(rdfs:label "Drooling") @@ -43099,10 +43092,10 @@ AnnotationAssertion( "SNOMEDCT_US:281016006") AnnotationAssertion( "SNOMEDCT_US:302289002") AnnotationAssertion( "UMLS:C0520966") -AnnotationAssertion(Annotation( ) "Difficulties in coordination") -AnnotationAssertion(Annotation( ) "Incoordination") -AnnotationAssertion(Annotation( ) "Incoordination of limb movements") -AnnotationAssertion(Annotation( ) "Limb incoordination") +AnnotationAssertion(Annotation( ) "Difficulties in coordination") +AnnotationAssertion(Annotation( ) "Incoordination") +AnnotationAssertion(Annotation( ) "Incoordination of limb movements") +AnnotationAssertion(Annotation( ) "Limb incoordination") AnnotationAssertion( "HP:0002311") AnnotationAssertion(rdfs:label "Incoordination") SubClassOf( ) @@ -43112,7 +43105,7 @@ SubClassOf( ) "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.") AnnotationAssertion( "SNOMEDCT_US:7006003") AnnotationAssertion( "UMLS:C0233844") -AnnotationAssertion(Annotation( ) "Clumsiness") +AnnotationAssertion(Annotation( ) "Clumsiness") AnnotationAssertion( "HP:0002312") AnnotationAssertion(rdfs:label "Clumsiness") SubClassOf( ) @@ -43147,8 +43140,8 @@ AnnotationAssertion( "MSH:D006261") AnnotationAssertion( "SNOMEDCT_US:25064002") AnnotationAssertion( "UMLS:C0018681") -AnnotationAssertion(Annotation( ) "Headache") -AnnotationAssertion(Annotation( ) "Headaches") +AnnotationAssertion(Annotation( ) "Headache") +AnnotationAssertion(Annotation( ) "Headaches") AnnotationAssertion( "HP:0002315") AnnotationAssertion(rdfs:comment "Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition.") AnnotationAssertion(rdfs:label "Headache") @@ -43161,7 +43154,7 @@ AnnotationAssertion( "SNOMEDCT_US:394616008") AnnotationAssertion( "UMLS:C0231686") AnnotationAssertion( "Gait instability") -AnnotationAssertion(Annotation( ) Annotation( ) "Unsteady walk") +AnnotationAssertion(Annotation( ) Annotation( ) "Unsteady walk") AnnotationAssertion( "HP:0002317") AnnotationAssertion(rdfs:label "Unsteady gait") SubClassOf( ) @@ -43185,8 +43178,8 @@ AnnotationAssertion( "SNOMEDCT_US:404640003") AnnotationAssertion( "UMLS:C0012833") AnnotationAssertion( "UMLS:C0042571") -AnnotationAssertion(Annotation( ) "Dizzy spell") -AnnotationAssertion(Annotation( ) "Dizziness") +AnnotationAssertion(Annotation( ) "Dizzy spell") +AnnotationAssertion(Annotation( ) "Dizziness") AnnotationAssertion( "HP:0002321") AnnotationAssertion(rdfs:label "Vertigo") SubClassOf( ) @@ -43198,8 +43191,8 @@ AnnotationAssertion( "SNOMEDCT_US:25082004") AnnotationAssertion( "UMLS:C0234379") AnnotationAssertion( "Rest tremor") -AnnotationAssertion(Annotation( ) "Resting tremor") -AnnotationAssertion(Annotation( ) "Tremor at rest") +AnnotationAssertion(Annotation( ) "Resting tremor") +AnnotationAssertion(Annotation( ) "Tremor at rest") AnnotationAssertion( "Parkinsonian tremor") AnnotationAssertion( "HP:0002322") AnnotationAssertion(rdfs:comment "Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width.") @@ -43237,7 +43230,7 @@ SubClassOf( "MSH:D002546") AnnotationAssertion( "UMLS:C0917805") -AnnotationAssertion(Annotation( ) Annotation( ) "Mini stroke") +AnnotationAssertion(Annotation( ) Annotation( ) "Mini stroke") AnnotationAssertion(Annotation( ) Annotation( ) "TIA") AnnotationAssertion(Annotation( ) "Transient ischaemic attack") AnnotationAssertion(Annotation( ) "Transient ischaemic attacks") @@ -43254,8 +43247,8 @@ AnnotationAssertion( "SNOMEDCT_US:271782001") AnnotationAssertion( "SNOMEDCT_US:79519003") AnnotationAssertion( "UMLS:C0013144") -AnnotationAssertion(Annotation( ) "Drowsiness") -AnnotationAssertion(Annotation( ) Annotation( ) "Sleepy") +AnnotationAssertion(Annotation( ) "Drowsiness") +AnnotationAssertion(Annotation( ) Annotation( ) "Sleepy") AnnotationAssertion( "HP:0002329") AnnotationAssertion(rdfs:label "Drowsiness") SubClassOf( ) @@ -43293,7 +43286,7 @@ SubClassOf( ) "Loss of previously present motor (i.e., movement) abilities.") AnnotationAssertion( "UMLS:C1866284") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressive degeneration of movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressive degeneration of movement") AnnotationAssertion( "HP:0002333") AnnotationAssertion(rdfs:label "Motor deterioration") SubClassOf( ) @@ -43360,7 +43353,7 @@ AnnotationAssertion(Annotation( "HP:0007303") AnnotationAssertion( "SNOMEDCT_US:61152003") AnnotationAssertion( "UMLS:C0026351") -AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability") Annotation( ) "IQ between 34 and 49") +AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability") Annotation( ) "IQ between 34 and 49") AnnotationAssertion( "Mental retardation, moderate") AnnotationAssertion( "Moderate mental deficiency") AnnotationAssertion( "Moderate mental retardation") @@ -43387,7 +43380,7 @@ AnnotationAssertion( "Neurologic deterioration, progressive") AnnotationAssertion( "Progressive mental deterioration") AnnotationAssertion( "Progressive neurodegeneration") -AnnotationAssertion(Annotation( ) Annotation( ) "Worsening neurological symptoms") +AnnotationAssertion(Annotation( ) Annotation( ) "Worsening neurological symptoms") AnnotationAssertion( "HP:0002344") AnnotationAssertion(rdfs:label "Progressive neurologic deterioration") SubClassOf( ) @@ -43409,7 +43402,7 @@ SubClassOf( ) "An unintentional, oscillating to-and-fro muscle movement affecting head movement.") AnnotationAssertion( "UMLS:C0239882") -AnnotationAssertion(Annotation( ) "Head tremor") +AnnotationAssertion(Annotation( ) "Head tremor") AnnotationAssertion( "HP:0002346") AnnotationAssertion(rdfs:label "Head tremor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -43488,11 +43481,11 @@ AnnotationAssertion( "UMLS:C0233794") AnnotationAssertion( "UMLS:C0542476") AnnotationAssertion( "UMLS:C0751295") -AnnotationAssertion(Annotation( ) "Forgetfulness") -AnnotationAssertion(Annotation( ) "Memory impairment") -AnnotationAssertion(Annotation( ) "Memory loss") -AnnotationAssertion(Annotation( ) "Memory problems") -AnnotationAssertion(Annotation( ) "Poor memory") +AnnotationAssertion(Annotation( ) "Forgetfulness") +AnnotationAssertion(Annotation( ) "Memory impairment") +AnnotationAssertion(Annotation( ) "Memory loss") +AnnotationAssertion(Annotation( ) "Memory problems") +AnnotationAssertion(Annotation( ) "Poor memory") AnnotationAssertion( "HP:0002354") AnnotationAssertion(rdfs:comment "Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living.") AnnotationAssertion(rdfs:label "Memory impairment") @@ -43507,8 +43500,8 @@ AnnotationAssertion( "MSH:D051346") AnnotationAssertion( "SNOMEDCT_US:228158008") AnnotationAssertion( "UMLS:C0311394") -AnnotationAssertion(Annotation( ) "Difficulty in walking") -AnnotationAssertion(Annotation( ) "Difficulty walking") +AnnotationAssertion(Annotation( ) "Difficulty in walking") +AnnotationAssertion(Annotation( ) "Difficulty walking") AnnotationAssertion( "Walking disability") AnnotationAssertion( "HP:0002355") AnnotationAssertion(rdfs:label "Difficulty walking") @@ -43521,7 +43514,7 @@ AnnotationAssertion(Annotation( "MSH:D020821") AnnotationAssertion( "SNOMEDCT_US:52008007") AnnotationAssertion( "UMLS:C0154676") -AnnotationAssertion(Annotation( ) "Writer's cramp") +AnnotationAssertion(Annotation( ) "Writer's cramp") AnnotationAssertion( "HP:0002356") AnnotationAssertion(rdfs:label "Writer's cramp") SubClassOf( ) @@ -43536,7 +43529,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Frequent falls) AnnotationAssertion( "UMLS:C0850703") -AnnotationAssertion(Annotation( ) "Frequent falls") +AnnotationAssertion(Annotation( ) "Frequent falls") AnnotationAssertion( "HP:0002359") AnnotationAssertion(rdfs:label "Frequent falls") SubClassOf( ) @@ -43547,10 +43540,10 @@ SubClassOf( ) "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.") AnnotationAssertion( "SNOMEDCT_US:53888004") AnnotationAssertion( "UMLS:C0037317") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty sleeping") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty sleeping") AnnotationAssertion(Annotation( ) "Sleep disturbances") AnnotationAssertion( "Sleep dysfunction") -AnnotationAssertion(Annotation( ) "Trouble sleeping") +AnnotationAssertion(Annotation( ) "Trouble sleeping") AnnotationAssertion( "HP:0002360") AnnotationAssertion(rdfs:label "Sleep disturbance") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -43571,7 +43564,7 @@ AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:43005009") AnnotationAssertion( "UMLS:C0231688") -AnnotationAssertion(Annotation( ) Annotation( ) "Shuffled walk") +AnnotationAssertion(Annotation( ) Annotation( ) "Shuffled walk") AnnotationAssertion( "HP:0002362") AnnotationAssertion(rdfs:label "Shuffling gait") SubClassOf( ) @@ -43580,7 +43573,7 @@ SubClassOf( ) "An anomaly of the brainstem.") AnnotationAssertion( "UMLS:C1850601") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of brainstem") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of brainstem") AnnotationAssertion( "Abnormality of brainstem morphology") AnnotationAssertion( "Abnormality of the brainstem") AnnotationAssertion( "HP:0002363") @@ -43595,8 +43588,8 @@ AnnotationAssertion( "Brainstem hypoplasia") AnnotationAssertion( "Hypoplastic brain stem") AnnotationAssertion( "Hypoplastic brainstem") -AnnotationAssertion(Annotation( ) "Small brainstem") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped brainstem") +AnnotationAssertion(Annotation( ) "Small brainstem") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped brainstem") AnnotationAssertion( "HP:0002365") AnnotationAssertion(rdfs:comment "This finding can be demonstrated by magnetic resonance imaging.") AnnotationAssertion(rdfs:label "Hypoplasia of the brainstem") @@ -43623,7 +43616,7 @@ AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:64269007") AnnotationAssertion( "UMLS:C0233763") -AnnotationAssertion(Annotation( ) "Visual hallucinations") +AnnotationAssertion(Annotation( ) "Visual hallucinations") AnnotationAssertion( "HP:0002367") AnnotationAssertion(rdfs:label "Visual hallucinations") SubClassOf( ) @@ -43631,7 +43624,7 @@ SubClassOf( (Poor coordination) AnnotationAssertion( "UMLS:C0563243") -AnnotationAssertion(Annotation( ) "Poor coordination") +AnnotationAssertion(Annotation( ) "Poor coordination") AnnotationAssertion( "HP:0002370") AnnotationAssertion(rdfs:label "Poor coordination") SubClassOf( ) @@ -43639,7 +43632,7 @@ SubClassOf( (Loss of speech) AnnotationAssertion( "UMLS:C0542223") -AnnotationAssertion(Annotation( ) "Loss of speech") +AnnotationAssertion(Annotation( ) "Loss of speech") AnnotationAssertion( "HP:0002371") AnnotationAssertion(rdfs:label "Loss of speech") SubClassOf( ) @@ -43662,7 +43655,7 @@ AnnotationAssertion( "UMLS:C0009952") AnnotationAssertion( "Febrile convulsion") AnnotationAssertion(Annotation( ) "Febrile seizures") -AnnotationAssertion(Annotation( ) Annotation( ) "Fever induced seizures") +AnnotationAssertion(Annotation( ) Annotation( ) "Fever induced seizures") AnnotationAssertion( "Seizures, febrile, in early childhood") AnnotationAssertion( "Seizures, generalized, associated with fever") AnnotationAssertion( "HP:0002373") @@ -43673,7 +43666,7 @@ SubClassOf( (Diminished movement) AnnotationAssertion( "UMLS:C4025710") -AnnotationAssertion(Annotation( ) "Diminished movement") +AnnotationAssertion(Annotation( ) "Diminished movement") AnnotationAssertion( "HP:0002374") AnnotationAssertion(rdfs:label "Diminished movement") SubClassOf( ) @@ -43687,9 +43680,9 @@ AnnotationAssertion( "SNOMEDCT_US:255385008") AnnotationAssertion( "SNOMEDCT_US:43994002") AnnotationAssertion( "UMLS:C0086439") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased muscle movement") -AnnotationAssertion(Annotation( ) "Decreased spontaneous movement") -AnnotationAssertion(Annotation( ) "Decreased spontaneous movements") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased muscle movement") +AnnotationAssertion(Annotation( ) "Decreased spontaneous movement") +AnnotationAssertion(Annotation( ) "Decreased spontaneous movements") AnnotationAssertion( "HP:0002375") AnnotationAssertion(rdfs:label "Hypokinesia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -43715,8 +43708,8 @@ AnnotationAssertion( "UMLS:C1855996") AnnotationAssertion( "UMLS:C1857121") AnnotationAssertion( "UMLS:C1859678") -AnnotationAssertion(Annotation( ) "Loss of developmental milestones") -AnnotationAssertion(Annotation( ) "Mental deterioration in childhood") +AnnotationAssertion(Annotation( ) "Loss of developmental milestones") +AnnotationAssertion(Annotation( ) "Mental deterioration in childhood") AnnotationAssertion( "Neurodevelopmental regression") AnnotationAssertion( "Psychomotor regression") AnnotationAssertion( "Psychomotor regression beginning in infancy") @@ -43738,10 +43731,10 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "An unintentional, oscillating to-and-fro muscle movement affecting the hand.") AnnotationAssertion( "UMLS:C0239842") -AnnotationAssertion(Annotation( ) "Hand tremor") -AnnotationAssertion(Annotation( ) "Tremor of hand") -AnnotationAssertion(Annotation( ) "Tremor of hands") -AnnotationAssertion(Annotation( ) "tremors in hands") +AnnotationAssertion(Annotation( ) "Hand tremor") +AnnotationAssertion(Annotation( ) "Tremor of hand") +AnnotationAssertion(Annotation( ) "Tremor of hands") +AnnotationAssertion(Annotation( ) "tremors in hands") AnnotationAssertion( "HP:0002378") AnnotationAssertion(rdfs:label "Hand tremor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -43757,7 +43750,7 @@ AnnotationAssertion( "UMLS:C0015644") AnnotationAssertion( "Fasciculation") AnnotationAssertion( "Muscle fasciculation") -AnnotationAssertion(Annotation( ) Annotation( "https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm") Annotation( ) "Muscle twitch") +AnnotationAssertion(Annotation( ) Annotation( "https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm") Annotation( ) "Muscle twitch") AnnotationAssertion( "HP:0002380") AnnotationAssertion(rdfs:comment "This finding can be visible clinically and can be demonstrated by electromyography (EMG).") AnnotationAssertion(rdfs:label "Fasciculations") @@ -43770,9 +43763,9 @@ AnnotationAssertion( "MSH:D001037") AnnotationAssertion( "SNOMEDCT_US:87486003") AnnotationAssertion( "UMLS:C0003537") -AnnotationAssertion(Annotation( ) "Difficulty finding words") -AnnotationAssertion(Annotation( ) "Losing words") -AnnotationAssertion(Annotation( ) "Loss of words") +AnnotationAssertion(Annotation( ) "Difficulty finding words") +AnnotationAssertion(Annotation( ) "Losing words") +AnnotationAssertion(Annotation( ) "Loss of words") AnnotationAssertion( "HP:0002381") AnnotationAssertion(rdfs:comment "Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. The terms aphasia and dysphasia are usually considered to be synonymous, but the word dysphasia has been used inconsistently and it is recommended to no longer use the term dysphasia.") AnnotationAssertion(rdfs:label "Aphasia") @@ -43784,7 +43777,7 @@ AnnotationAssertion(Annotation( "MSH:D004660") AnnotationAssertion( "SNOMEDCT_US:45170000") AnnotationAssertion( "UMLS:C0014038") -AnnotationAssertion(Annotation( ) Annotation( ) "Brain inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Brain inflammation") AnnotationAssertion( "HP:0002383") AnnotationAssertion(rdfs:label "Infectious encephalitis") SubClassOf( ) @@ -43826,7 +43819,7 @@ AnnotationAssertion(Annotation( "MSH:D020335") AnnotationAssertion( "SNOMEDCT_US:1845001") AnnotationAssertion( "UMLS:C0221166") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial paralysis of legs") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial paralysis of legs") AnnotationAssertion( "HP:0002385") AnnotationAssertion(rdfs:comment "Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity.") AnnotationAssertion(rdfs:label "Paraparesis") @@ -43875,7 +43868,7 @@ AnnotationAssertion( "Hyperreflexia in the lower limbs") AnnotationAssertion( "Increased deep tendon reflexes in the lower limbs") AnnotationAssertion( "Leg hyperreflexia") -AnnotationAssertion(Annotation( ) Annotation( ) "Overactive lower leg reflex") +AnnotationAssertion(Annotation( ) Annotation( ) "Overactive lower leg reflex") AnnotationAssertion( "HP:0002395") AnnotationAssertion(rdfs:label "Lower limb hyperreflexia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -43913,7 +43906,7 @@ SubClassOf( "PMID:22715346") Annotation( "PMID:23907585") "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.") AnnotationAssertion( "UMLS:C1857287") -AnnotationAssertion(Annotation( ) Annotation( ) "Stroke-like episodes") +AnnotationAssertion(Annotation( ) Annotation( ) "Stroke-like episodes") AnnotationAssertion(Annotation( ) "Strokelike episodes") AnnotationAssertion( "HP:0002401") AnnotationAssertion(rdfs:comment "Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent.") @@ -43944,7 +43937,7 @@ SubClassOf( ) "A type of dysmetria involving the limbs.") AnnotationAssertion( "UMLS:C1854489") AnnotationAssertion( "UMLS:C4280577") -AnnotationAssertion(Annotation( ) Annotation( ) "Uncoordinated limb movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Uncoordinated limb movement") AnnotationAssertion( "HP:0002406") AnnotationAssertion(rdfs:label "Limb dysmetria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -43990,7 +43983,7 @@ SubClassOf( (Spina bifida) AnnotationAssertion(Annotation( ) "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.") -AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel") Annotation( ) "Split spine") +AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel") Annotation( ) "Split spine") AnnotationAssertion( "Fyler:4157") AnnotationAssertion( "MSH:D016135") AnnotationAssertion( "SNOMEDCT_US:67531005") @@ -44028,10 +44021,10 @@ SubClassOf( ) "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.") AnnotationAssertion( "UMLS:C4021755") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of midbrain") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of midbrain") AnnotationAssertion( "Abnormality of midbrain morphology") AnnotationAssertion( "Abnormality of the mesencephalon") -AnnotationAssertion(Annotation( ) "Abnormality of the midbrain") +AnnotationAssertion(Annotation( ) "Abnormality of the midbrain") AnnotationAssertion( "HP:0002418") AnnotationAssertion(rdfs:label "Abnormal midbrain morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -44053,7 +44046,7 @@ SubClassOf( ) "Difficulty to maintain correct position of the head while standing or sitting.") AnnotationAssertion( "UMLS:C1836038") -AnnotationAssertion(Annotation( ) "Poor head control") +AnnotationAssertion(Annotation( ) "Poor head control") AnnotationAssertion( "HP:0002421") AnnotationAssertion(rdfs:label "Poor head control") SubClassOf( ) @@ -44072,7 +44065,7 @@ SubClassOf( ) "A defect in the motor ability that enables speech.") AnnotationAssertion( "SNOMEDCT_US:48257004") AnnotationAssertion( "UMLS:C0234517") -AnnotationAssertion(Annotation( ) Annotation( "http://dictionary.reference.com/browse/anarthria") Annotation( ) "Loss of articulate speech") +AnnotationAssertion(Annotation( ) Annotation( "http://dictionary.reference.com/browse/anarthria") Annotation( ) "Loss of articulate speech") AnnotationAssertion( "HP:0002425") AnnotationAssertion(rdfs:label "Anarthria") SubClassOf( ) @@ -44087,9 +44080,9 @@ AnnotationAssertion( "UMLS:C0003550") AnnotationAssertion( "UMLS:C0917814") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/aphasia") "Broca's aphasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of expressive speech") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of expressive speech") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/aphasia") "Motor aphasia") -AnnotationAssertion(Annotation( ) "Non-fluent aphasia") +AnnotationAssertion(Annotation( ) "Non-fluent aphasia") AnnotationAssertion( "HP:0002427") AnnotationAssertion(rdfs:label "Expressive aphasia") SubClassOf( ) @@ -44132,7 +44125,7 @@ SubClassOf( (Dyscalculia) AnnotationAssertion(Annotation( ) "A specific learning disability involving mathematics and arithmetic.") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty making arithmetical calculations") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty making arithmetical calculations") AnnotationAssertion( "SNOMEDCT_US:47916000") AnnotationAssertion( "UMLS:C1411876") AnnotationAssertion( "UMLS:C4280576") @@ -44160,7 +44153,7 @@ AnnotationAssertion( "MSH:D011782") AnnotationAssertion( "SNOMEDCT_US:11538006") AnnotationAssertion( "UMLS:C0034372") -AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of all four limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of all four limbs") AnnotationAssertion( "Quadriplegia") AnnotationAssertion( "HP:0002445") AnnotationAssertion(rdfs:label "Tetraplegia") @@ -44180,7 +44173,7 @@ SubClassOf( (Progressive encephalopathy) -AnnotationAssertion(Annotation( ) Annotation( ) "Progressive brain disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressive brain disease") AnnotationAssertion( "UMLS:C1838578") AnnotationAssertion( "UMLS:C4280575") AnnotationAssertion( "HP:0002448") @@ -44191,7 +44184,7 @@ SubClassOf( "Any structural anomaly that affects the motor neuron.") AnnotationAssertion( "UMLS:C4025707") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of motor neuron") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of motor neuron") AnnotationAssertion( "HP:0002450") AnnotationAssertion(rdfs:label "Abnormal motor neuron morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -44234,7 +44227,7 @@ SubClassOf( "SNOMEDCT_US:271799000") AnnotationAssertion( "UMLS:C0476217") -AnnotationAssertion(Annotation( ) "Abnormal head movements") +AnnotationAssertion(Annotation( ) "Abnormal head movements") AnnotationAssertion( "HP:0002457") AnnotationAssertion(rdfs:label "Abnormal head movements") SubClassOf( ) @@ -44264,7 +44257,7 @@ AnnotationAssertion( "Muscle weakness, distal") AnnotationAssertion( "Muscle weakness, distal limbs, due to neuronopathy") AnnotationAssertion( "Weakness of distal muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of outermost muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of outermost muscles") AnnotationAssertion(Annotation( ) "Distal limb muscle weakness due to peripheral neuropathy") AnnotationAssertion( "HP:0002460") AnnotationAssertion(rdfs:comment "Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric.") @@ -44309,11 +44302,11 @@ SubClassOf( (Poor speech) -AnnotationAssertion(Annotation( ) Annotation( ) "Problems speaking") +AnnotationAssertion(Annotation( ) Annotation( ) "Problems speaking") AnnotationAssertion( "UMLS:C1848207") AnnotationAssertion( "UMLS:C4280574") -AnnotationAssertion(Annotation( ) "Poor speech") -AnnotationAssertion(Annotation( ) "Difficulty speaking") +AnnotationAssertion(Annotation( ) "Poor speech") +AnnotationAssertion(Annotation( ) "Difficulty speaking") AnnotationAssertion( "HP:0002465") AnnotationAssertion(rdfs:label "Poor speech") SubClassOf( ) @@ -44341,7 +44334,7 @@ SubClassOf( ) "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.") AnnotationAssertion( "HP:0007192") -AnnotationAssertion(Annotation( ) Annotation( ) "Communication delay") +AnnotationAssertion(Annotation( ) Annotation( ) "Communication delay") AnnotationAssertion( "SNOMEDCT_US:229734008") AnnotationAssertion( "UMLS:C0454641") AnnotationAssertion( "UMLS:C1847610") @@ -44431,7 +44424,7 @@ AnnotationAssertion( "UMLS:C0424295") AnnotationAssertion( "Hyperkinesia") AnnotationAssertion( "Hyperkinesis") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle spasms") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle spasms") AnnotationAssertion( "HP:0002487") AnnotationAssertion(rdfs:label "Hyperkinetic movements") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -44442,7 +44435,7 @@ SubClassOf( "NCIT:C9300") "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-27T10:32:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Acute blood cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Acute blood cancer") AnnotationAssertion( "SNOMEDCT_US:24072005") AnnotationAssertion( "SNOMEDCT_US:91855006") AnnotationAssertion( "UMLS:C0085669") @@ -44473,8 +44466,8 @@ AnnotationAssertion( "UMLS:C4280570") AnnotationAssertion( "UMLS:C4280571") AnnotationAssertion( "Spasticity of the facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased stiffness of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased tone of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased stiffness of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased tone of facial muscles") AnnotationAssertion( "HP:0002491") AnnotationAssertion(rdfs:comment "Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort.") AnnotationAssertion(rdfs:label "Spasticity of facial muscles") @@ -44526,12 +44519,12 @@ AnnotationAssertion( "HP:0007116") AnnotationAssertion( "SNOMEDCT_US:130980003") AnnotationAssertion( "UMLS:C1295585") -AnnotationAssertion(Annotation( ) "Decreased vibration sense") -AnnotationAssertion(Annotation( ) "Decreased vibratory sense") -AnnotationAssertion(Annotation( ) "Diminished vibratory sense") +AnnotationAssertion(Annotation( ) "Decreased vibration sense") +AnnotationAssertion(Annotation( ) "Decreased vibratory sense") +AnnotationAssertion(Annotation( ) "Diminished vibratory sense") AnnotationAssertion( "Hypopallesthesia") -AnnotationAssertion(Annotation( ) "Impaired vibratory sensation") -AnnotationAssertion(Annotation( ) "Impaired vibratory sense") +AnnotationAssertion(Annotation( ) "Impaired vibratory sensation") +AnnotationAssertion(Annotation( ) "Impaired vibratory sense") AnnotationAssertion( "HP:0002495") AnnotationAssertion(rdfs:comment "Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex.") AnnotationAssertion(rdfs:label "Impaired vibratory sensation") @@ -44597,7 +44590,7 @@ SubClassOf( "Inability to walk in a person who previous had the ability to walk.") AnnotationAssertion( "HP:0006957") AnnotationAssertion( "UMLS:C1836843") -AnnotationAssertion(Annotation( ) "Loss of ability to walk") +AnnotationAssertion(Annotation( ) "Loss of ability to walk") AnnotationAssertion( "HP:0002505") AnnotationAssertion(rdfs:label "Loss of ambulation") SubClassOf( ) @@ -44638,7 +44631,7 @@ SubClassOf( (Limb hypertonia) AnnotationAssertion( "UMLS:C1838391") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased muscle tone of arm or leg") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased muscle tone of arm or leg") AnnotationAssertion( "HP:0002509") AnnotationAssertion(rdfs:label "Limb hypertonia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -44672,8 +44665,8 @@ AnnotationAssertion( "SNOMEDCT_US:26929004") AnnotationAssertion( "UMLS:C0002395") AnnotationAssertion( "UMLS:C1863051") -AnnotationAssertion(Annotation( ) "Alzheimer disease") -AnnotationAssertion(Annotation( ) "Late-onset form of familial Alzheimer disease") +AnnotationAssertion(Annotation( ) "Alzheimer disease") +AnnotationAssertion(Annotation( ) "Late-onset form of familial Alzheimer disease") AnnotationAssertion( "HP:0002511") AnnotationAssertion(rdfs:comment "Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.") AnnotationAssertion(rdfs:label "Alzheimer disease") @@ -44696,7 +44689,7 @@ AnnotationAssertion( "HP:0006848") AnnotationAssertion( "SNOMEDCT_US:17944005") AnnotationAssertion( "UMLS:C0270685") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal deposits of calcium in the brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal deposits of calcium in the brain") AnnotationAssertion( "Brain calcification") AnnotationAssertion( "Intracerebral calcifications") AnnotationAssertion( "Intracranial calcification") @@ -44715,8 +44708,8 @@ AnnotationAssertion(Annotation( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:271706000") AnnotationAssertion( "UMLS:C0231712") -AnnotationAssertion(Annotation( ) "Waddling gait") -AnnotationAssertion(Annotation( ) Annotation( ) "Waddling walk") +AnnotationAssertion(Annotation( ) "Waddling gait") +AnnotationAssertion(Annotation( ) Annotation( ) "Waddling walk") AnnotationAssertion( "HP:0002515") AnnotationAssertion(rdfs:label "Waddling gait") SubClassOf( ) @@ -44729,7 +44722,7 @@ AnnotationAssertion( "UMLS:C0151740") AnnotationAssertion( "Intracranial hypertension") AnnotationAssertion( "Intracranial pressure elevation") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Rise in pressure inside skull") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Rise in pressure inside skull") AnnotationAssertion( "Pseudotumor cerebri") AnnotationAssertion( "HP:0002516") AnnotationAssertion(rdfs:comment "Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain.") @@ -44809,7 +44802,7 @@ SubClassOf( "SNOMEDCT_US:161898004") AnnotationAssertion( "SNOMEDCT_US:1912002") AnnotationAssertion( "UMLS:C0085639") -AnnotationAssertion(Annotation( ) "Falls") +AnnotationAssertion(Annotation( ) "Falls") AnnotationAssertion( "HP:0002527") AnnotationAssertion(rdfs:label "Falls") SubClassOf( ) @@ -44830,7 +44823,7 @@ SubClassOf( "HP:0002400") AnnotationAssertion( "UMLS:C1850496") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Loss of brain cells") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Loss of brain cells") AnnotationAssertion( "Neuronal loss") AnnotationAssertion(Annotation( ) "Neuronal loss in CNS") AnnotationAssertion( "HP:0002529") @@ -44901,7 +44894,7 @@ SubClassOf( ) "Incapability to ambulate.") AnnotationAssertion( "SNOMEDCT_US:282145008") AnnotationAssertion( "UMLS:C0560046") -AnnotationAssertion(Annotation( ) "Inability to walk") +AnnotationAssertion(Annotation( ) "Inability to walk") AnnotationAssertion( "Non-ambulatory") AnnotationAssertion( "HP:0002540") AnnotationAssertion(rdfs:label "Inability to walk") @@ -44939,7 +44932,7 @@ SubClassOf( (Incomprehensible speech) AnnotationAssertion( "UMLS:C1838027") -AnnotationAssertion(Annotation( ) "Incomprehensible speech") +AnnotationAssertion(Annotation( ) "Incomprehensible speech") AnnotationAssertion( "HP:0002546") AnnotationAssertion(rdfs:label "Incomprehensible speech") SubClassOf( ) @@ -44969,7 +44962,7 @@ SubClassOf( ) "Absence of facial hair.") AnnotationAssertion( "UMLS:C1848192") -AnnotationAssertion(Annotation( ) "Absent facial hair") +AnnotationAssertion(Annotation( ) "Absent facial hair") AnnotationAssertion( "HP:0002550") AnnotationAssertion(rdfs:label "Absent facial hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -44998,14 +44991,14 @@ AnnotationAssertion( "HP:0008505") AnnotationAssertion( "UMLS:C1868571") AnnotationAssertion( "UMLS:C4020849") -AnnotationAssertion(Annotation( ) "Arched eyebrows") -AnnotationAssertion(Annotation( ) "Broad, arched eyebrows") -AnnotationAssertion(Annotation( ) "High, rounded eyebrows") -AnnotationAssertion(Annotation( ) "High-arched eyebrows") -AnnotationAssertion(Annotation( ) "Highly arched eyebrow") -AnnotationAssertion(Annotation( ) "Thick, flared eyebrows") -AnnotationAssertion(Annotation( ) "Bowed and upward slanting eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "High arched eyebrows") +AnnotationAssertion(Annotation( ) "Arched eyebrows") +AnnotationAssertion(Annotation( ) "Broad, arched eyebrows") +AnnotationAssertion(Annotation( ) "High, rounded eyebrows") +AnnotationAssertion(Annotation( ) "High-arched eyebrows") +AnnotationAssertion(Annotation( ) "Highly arched eyebrow") +AnnotationAssertion(Annotation( ) "Thick, flared eyebrows") +AnnotationAssertion(Annotation( ) "Bowed and upward slanting eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "High arched eyebrows") AnnotationAssertion( "HP:0002553") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Most eyebrows have some arch with downturning medially and laterally.") @@ -45019,7 +45012,7 @@ AnnotationAssertion(Annotation( "HP:0004537") AnnotationAssertion( "HP:0004556") AnnotationAssertion( "UMLS:C1859391") -AnnotationAssertion(Annotation( ) "Absent pubic hair") +AnnotationAssertion(Annotation( ) "Absent pubic hair") AnnotationAssertion( "HP:0002555") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Absent pubic hair") @@ -45036,7 +45029,7 @@ AnnotationAssertion( "SNOMEDCT_US:268290005") AnnotationAssertion( "UMLS:C0432355") AnnotationAssertion( "Nipple hypoplasia") -AnnotationAssertion(Annotation( ) "Small nipples") +AnnotationAssertion(Annotation( ) "Small nipples") AnnotationAssertion( "HP:0002557") AnnotationAssertion(rdfs:label "Hypoplastic nipples") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -45050,10 +45043,10 @@ AnnotationAssertion( "MSH:C562557") AnnotationAssertion( "SNOMEDCT_US:50956007") AnnotationAssertion( "UMLS:C0266011") -AnnotationAssertion(Annotation( ) "Accessory nipple") +AnnotationAssertion(Annotation( ) "Accessory nipple") AnnotationAssertion(Annotation( ) "Increased nipple number") AnnotationAssertion( "accessory mamilla") -AnnotationAssertion(Annotation( ) "Accessory nipples") +AnnotationAssertion(Annotation( ) "Accessory nipples") AnnotationAssertion( "Supernumerary nipples") AnnotationAssertion( "accessory mamillas") AnnotationAssertion( "HP:0002558") @@ -45067,8 +45060,8 @@ SubClassOf( "Congenital failure to develop, and absence of, the nipple.") AnnotationAssertion( "SNOMEDCT_US:248820000") AnnotationAssertion( "UMLS:C0425795") -AnnotationAssertion(Annotation( ) "Absent nipple") -AnnotationAssertion(Annotation( ) "Absent nipples") +AnnotationAssertion(Annotation( ) "Absent nipple") +AnnotationAssertion(Annotation( ) "Absent nipples") AnnotationAssertion( "Athelia") AnnotationAssertion( "HP:0002561") AnnotationAssertion(rdfs:comment "This finding can be unilateral or bilateral.") @@ -45080,7 +45073,7 @@ SubClassOf( ) "Placement of the nipples at a lower than normal location.") AnnotationAssertion( "UMLS:C1836933") -AnnotationAssertion(Annotation( ) "Low-set nipples") +AnnotationAssertion(Annotation( ) "Low-set nipples") AnnotationAssertion( "HP:0002562") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Low-set nipples") @@ -45130,9 +45123,9 @@ AnnotationAssertion( "SNOMEDCT_US:66187002") AnnotationAssertion( "UMLS:C0038238") AnnotationAssertion(Annotation( ) "Fat in faeces") -AnnotationAssertion(Annotation( ) Annotation( ) "Fat in feces") +AnnotationAssertion(Annotation( ) Annotation( ) "Fat in feces") AnnotationAssertion( "Fatty stool") -AnnotationAssertion(Annotation( ) "Greasy stools") +AnnotationAssertion(Annotation( ) "Greasy stools") AnnotationAssertion( "HP:0002570") AnnotationAssertion(rdfs:label "Steatorrhea") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -45158,8 +45151,8 @@ SubClassOf( ) "Paroxysmal, recurrent episodes of vomiting.") AnnotationAssertion( "UMLS:C1838993") AnnotationAssertion( "UMLS:C1857202") -AnnotationAssertion(Annotation( ) "Episodic vomiting") -AnnotationAssertion(Annotation( ) Annotation( ) "Frequent vomiting") +AnnotationAssertion(Annotation( ) "Episodic vomiting") +AnnotationAssertion(Annotation( ) Annotation( ) "Frequent vomiting") AnnotationAssertion( "HP:0002572") AnnotationAssertion(rdfs:label "Episodic vomiting") SubClassOf( ) @@ -45173,8 +45166,8 @@ AnnotationAssertion( "SNOMEDCT_US:236068001") AnnotationAssertion( "SNOMEDCT_US:405729008") AnnotationAssertion( "UMLS:C0018932") -AnnotationAssertion(Annotation( ) "Rectal bleeding") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent rectal bleeding") +AnnotationAssertion(Annotation( ) "Rectal bleeding") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent rectal bleeding") AnnotationAssertion( "HP:0002573") AnnotationAssertion(rdfs:comment "Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.") AnnotationAssertion(rdfs:label "Hematochezia") @@ -45186,7 +45179,7 @@ SubClassOf( ) "An intermittent form of abdominal pain.") AnnotationAssertion( "UMLS:C0262527") AnnotationAssertion( "UMLS:C3808022") -AnnotationAssertion(Annotation( ) "Intermittent abdominal pain") +AnnotationAssertion(Annotation( ) "Intermittent abdominal pain") AnnotationAssertion( "HP:0002574") AnnotationAssertion(rdfs:label "Episodic abdominal pain") SubClassOf( ) @@ -45195,7 +45188,7 @@ SubClassOf( (Tracheoesophageal fistula) AnnotationAssertion(Annotation( ) "An abnormal connection (fistula) between the esophagus and the trachea.") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal connection between trachea and esophagus") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal connection between trachea and esophagus") AnnotationAssertion(Annotation( ) "Abnormal connection between trachea and oesophagus") AnnotationAssertion( "Fyler:4202") AnnotationAssertion(Annotation(rdfs:label "Tracheo-oesophageal fistula") "MEDDRA:10044310") @@ -45241,7 +45234,7 @@ AnnotationAssertion( "SNOMEDCT_US:196753007") AnnotationAssertion( "SNOMEDCT_US:235675006") AnnotationAssertion( "UMLS:C0152020") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed gastric emptying") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed gastric emptying") AnnotationAssertion( "HP:0002578") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Gastroparesis") @@ -45300,7 +45293,7 @@ SubClassOf( ) "Bleeding from the intestines.") AnnotationAssertion( "SNOMEDCT_US:712510007") AnnotationAssertion( "UMLS:C0267373") -AnnotationAssertion(Annotation( ) "Intestinal bleeding") +AnnotationAssertion(Annotation( ) "Intestinal bleeding") AnnotationAssertion(Annotation( ) "Intestinal haemorrhage") AnnotationAssertion( "Intestinal hemorrhage") AnnotationAssertion( "HP:0002584") @@ -45339,7 +45332,7 @@ SubClassOf( ) "Vomiting that ejects the gastric contents with great force.") AnnotationAssertion( "SNOMEDCT_US:8579004") AnnotationAssertion( "UMLS:C0221151") -AnnotationAssertion(Annotation( ) "Projectile vomiting") +AnnotationAssertion(Annotation( ) "Projectile vomiting") AnnotationAssertion( "HP:0002587") AnnotationAssertion(rdfs:label "Projectile vomiting") SubClassOf( ) @@ -45389,8 +45382,8 @@ AnnotationAssertion( "UMLS:C0020505") AnnotationAssertion( "UMLS:C0232461") AnnotationAssertion( "Hyperphagia") -AnnotationAssertion(Annotation( ) "Voracious appetite") -AnnotationAssertion(Annotation( ) "Increased appetite") +AnnotationAssertion(Annotation( ) "Voracious appetite") +AnnotationAssertion(Annotation( ) "Increased appetite") AnnotationAssertion( "HP:0002591") AnnotationAssertion(rdfs:label "Polyphagia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -45403,7 +45396,7 @@ AnnotationAssertion(Annotation(rdfs:label "Gastric ulcer") "MSH:D013276") AnnotationAssertion( "SNOMEDCT_US:397825006") AnnotationAssertion( "UMLS:C0038358") -AnnotationAssertion(Annotation( ) "Stomach ulcer") +AnnotationAssertion(Annotation( ) "Stomach ulcer") AnnotationAssertion( "HP:0002592") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The presence of a mucosal erosion equal to or greater than 0.5 cm.") @@ -45430,7 +45423,7 @@ AnnotationAssertion( "SNOMEDCT_US:68591005") AnnotationAssertion( "UMLS:C0266267") AnnotationAssertion( "Hypoplastic pancreas") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pancreas") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pancreas") AnnotationAssertion( "HP:0002594") AnnotationAssertion(rdfs:comment "Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size.") AnnotationAssertion(rdfs:label "Pancreatic hypoplasia") @@ -45454,9 +45447,9 @@ SubClassOf( ) "An abnormality of the vasculature.") AnnotationAssertion( "UMLS:C0241657") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of blood vessels") -AnnotationAssertion(Annotation( ) "Abnormality of the vasculature") -AnnotationAssertion(Annotation( ) "Vascular abnormalities") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of blood vessels") +AnnotationAssertion(Annotation( ) "Abnormality of the vasculature") +AnnotationAssertion(Annotation( ) "Vascular abnormalities") AnnotationAssertion( "HP:0002597") AnnotationAssertion(rdfs:label "Abnormality of the vasculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -45503,7 +45496,7 @@ SubClassOf( ) "Telangiectasia affecting the gastrointestinal tract.") AnnotationAssertion( "UMLS:C1619711") AnnotationAssertion(Annotation( ) "GI telangiectasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Small, enlarged blood vessels near skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Small, enlarged blood vessels near skin") AnnotationAssertion( "HP:0002604") AnnotationAssertion(rdfs:comment "Telangiectasia affecting stomach, duodenum, small bowel, and/or colon.") AnnotationAssertion(rdfs:label "Gastrointestinal telangiectasia") @@ -45533,7 +45526,7 @@ AnnotationAssertion( "Anal incontinence") AnnotationAssertion(Annotation( ) "Faecal incontinence") AnnotationAssertion( "Fecal incontinence") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of bowel control") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of bowel control") AnnotationAssertion( "HP:0002607") AnnotationAssertion(rdfs:label "Bowel incontinence") SubClassOf( ) @@ -45545,7 +45538,7 @@ AnnotationAssertion(Annotation( "MSH:D002446") AnnotationAssertion( "SNOMEDCT_US:396331005") AnnotationAssertion( "UMLS:C0007570") -AnnotationAssertion(Annotation( ) "Celiac disease") +AnnotationAssertion(Annotation( ) "Celiac disease") AnnotationAssertion( "Celiac sprue") AnnotationAssertion(Annotation( ) "Coeliac disease") AnnotationAssertion(Annotation( ) "Coeliac sprue") @@ -45568,7 +45561,7 @@ AnnotationAssertion( "SNOMEDCT_US:79607001") AnnotationAssertion( "UMLS:C0009714") AnnotationAssertion( "Congenital liver fibrosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive buildup of connective tissue and scarring of liver at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive buildup of connective tissue and scarring of liver at birth") AnnotationAssertion( "HP:0002612") AnnotationAssertion(rdfs:comment "Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis).") AnnotationAssertion(rdfs:label "Congenital hepatic fibrosis") @@ -45605,7 +45598,7 @@ AnnotationAssertion( "SNOMEDCT_US:45007003") AnnotationAssertion( "UMLS:C0020649") AnnotationAssertion( "Arterial hypotension") -AnnotationAssertion(Annotation( ) "Low blood pressure") +AnnotationAssertion(Annotation( ) "Low blood pressure") AnnotationAssertion( "HP:0002615") AnnotationAssertion(rdfs:label "Hypotension") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -45620,7 +45613,7 @@ AnnotationAssertion( "Aortic root dilatation") AnnotationAssertion( "SNOMEDCT_US:251036003") AnnotationAssertion( "UMLS:C0238669") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulge in wall of root of large artery that carries blood away from heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulge in wall of root of large artery that carries blood away from heart") AnnotationAssertion( "Increased aortic root diameter") AnnotationAssertion( "HP:0002616") AnnotationAssertion(rdfs:label "Aortic root aneurysm") @@ -45636,10 +45629,10 @@ AnnotationAssertion( "UMLS:C0002940") AnnotationAssertion( "UMLS:C4020848") AnnotationAssertion(Annotation( ) "Aneurysmal dilatation") -AnnotationAssertion(Annotation( ) Annotation( ) "Wider than typical opening or gap") -AnnotationAssertion(Annotation( ) "Aneurysm") -AnnotationAssertion(Annotation( ) Annotation( ) "Aneurysms") -AnnotationAssertion(Annotation( ) "Aneurysmal disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Wider than typical opening or gap") +AnnotationAssertion(Annotation( ) "Aneurysm") +AnnotationAssertion(Annotation( ) Annotation( ) "Aneurysms") +AnnotationAssertion(Annotation( ) "Aneurysmal disease") AnnotationAssertion( "HP:0002617") AnnotationAssertion(rdfs:comment "Aneurysm is considered a severe form of dilatation.") AnnotationAssertion(rdfs:label "Vascular dilatation") @@ -45660,13 +45653,13 @@ SubClassOf( (Atherosclerosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:31420554") "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.") -AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in arteries") AnnotationAssertion( "MSH:D050197") AnnotationAssertion( "SNOMEDCT_US:38716007") AnnotationAssertion( "UMLS:C0004153") AnnotationAssertion( "UMLS:C4280569") AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel") "Atherosclerotic cardiovascular disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing and hardening of arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing and hardening of arteries") AnnotationAssertion( "HP:0002621") AnnotationAssertion(rdfs:comment "Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon.") AnnotationAssertion(rdfs:label "Atherosclerosis") @@ -45698,7 +45691,7 @@ SubClassOf( ) "An anomaly of vein.") AnnotationAssertion( "UMLS:C0241665") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal vein") AnnotationAssertion( "Venous abnormality") AnnotationAssertion( "HP:0002624") AnnotationAssertion(rdfs:label "Abnormal venous morphology") @@ -45711,7 +45704,7 @@ AnnotationAssertion(Annotation( "MSH:D020246") AnnotationAssertion( "SNOMEDCT_US:128053003") AnnotationAssertion( "UMLS:C0149871") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in a deep vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in a deep vein") AnnotationAssertion( "Deep vein thrombosis") AnnotationAssertion( "Multiple deep venous thrombosis") AnnotationAssertion( "HP:0002625") @@ -45766,7 +45759,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "UMLS:C1866500") AnnotationAssertion(Annotation( ) "Low-to-normal BP") -AnnotationAssertion(Annotation( ) "Low-to-normal blood pressure") +AnnotationAssertion(Annotation( ) "Low-to-normal blood pressure") AnnotationAssertion( "HP:0002632") AnnotationAssertion(rdfs:label "Low-to-normal blood pressure") SubClassOf( ) @@ -45778,7 +45771,7 @@ AnnotationAssertion( "SNOMEDCT_US:31996006") AnnotationAssertion( "UMLS:C0042384") AnnotationAssertion(Annotation( ) "Angiitis") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inflammation of blood vessel") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inflammation of blood vessel") AnnotationAssertion( "HP:0002633") AnnotationAssertion(rdfs:label "Vasculitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -45787,7 +45780,7 @@ SubClassOf( (Arteriosclerosis) AnnotationAssertion(Annotation( ) "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.") -AnnotationAssertion(Annotation( ) Annotation( ) "Hardened artery wall") +AnnotationAssertion(Annotation( ) Annotation( ) "Hardened artery wall") AnnotationAssertion( "MSH:D001161") AnnotationAssertion( "SNOMEDCT_US:107671003") AnnotationAssertion( "SNOMEDCT_US:28960008") @@ -45833,7 +45826,7 @@ AnnotationAssertion( "UMLS:C0917798") AnnotationAssertion(Annotation( ) "Brain ischemia") AnnotationAssertion(Annotation( ) "Cerebrovascular ischemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Disruption of blood oxygen supply to brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Disruption of blood oxygen supply to brain") AnnotationAssertion( "HP:0002637") AnnotationAssertion(rdfs:label "Cerebral ischemia") SubClassOf( ) @@ -45868,7 +45861,7 @@ SubClassOf( (Peripheral thrombosis) AnnotationAssertion( "UMLS:C1849749") -AnnotationAssertion(Annotation( ) Annotation( ) "Peripheral blood clot") +AnnotationAssertion(Annotation( ) Annotation( ) "Peripheral blood clot") AnnotationAssertion( "HP:0002641") AnnotationAssertion(rdfs:label "Peripheral thrombosis") SubClassOf( ) @@ -45886,10 +45879,10 @@ SubClassOf( ) "Respiratory difficulty as newborn.") AnnotationAssertion( "UMLS:C0852283") -AnnotationAssertion(Annotation( ) "Infantile respiratory distress") -AnnotationAssertion(Annotation( ) "Neonatal respiratory distress") -AnnotationAssertion(Annotation( ) "Newborn respiratory distress") -AnnotationAssertion(Annotation( ) "Respiratory distress, neonatal") +AnnotationAssertion(Annotation( ) "Infantile respiratory distress") +AnnotationAssertion(Annotation( ) "Neonatal respiratory distress") +AnnotationAssertion(Annotation( ) "Newborn respiratory distress") +AnnotationAssertion(Annotation( ) "Respiratory distress, neonatal") AnnotationAssertion( "HP:0002643") AnnotationAssertion(rdfs:label "Neonatal respiratory distress") SubClassOf( ) @@ -45898,7 +45891,7 @@ SubClassOf( ) "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.") AnnotationAssertion( "UMLS:C4020847") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of pelvic girdle bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of pelvic girdle bone") AnnotationAssertion( "Abnormality of pelvic girdle bone morphology") AnnotationAssertion( "Abnormality of the pelvic girdle") AnnotationAssertion( "HP:0002644") @@ -45911,7 +45904,7 @@ SubClassOf( ) "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.") AnnotationAssertion( "SNOMEDCT_US:113194005") AnnotationAssertion( "UMLS:C0222716") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra bones within cranial sutures") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra bones within cranial sutures") AnnotationAssertion(Annotation( ) "Intra sutural bones") AnnotationAssertion(Annotation( ) "Intrasutural bones") AnnotationAssertion(Annotation( ) "Islands of bone within cranial sutures") @@ -45927,7 +45920,7 @@ AnnotationAssertion(Annotation( "HP:0002622") AnnotationAssertion( "SNOMEDCT_US:308546005") AnnotationAssertion( "UMLS:C0340643") -AnnotationAssertion(Annotation( ) Annotation( ) "Tear in inner wall of large artery that carries blood away from heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Tear in inner wall of large artery that carries blood away from heart") AnnotationAssertion( "HP:0002647") AnnotationAssertion(rdfs:label "Aortic dissection") SubClassOf( ) @@ -45970,7 +45963,7 @@ SubClassOf( ) "A general term describing features characterized by abnormal development of bones and connective tissues.") AnnotationAssertion( "HP:0005685") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skeletal development") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skeletal development") AnnotationAssertion( "MSH:D010009") AnnotationAssertion( "SNOMEDCT_US:105985007") AnnotationAssertion( "SNOMEDCT_US:240190009") @@ -45987,7 +45980,7 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.") AnnotationAssertion( "SNOMEDCT_US:12584003") AnnotationAssertion( "UMLS:C0151825") -AnnotationAssertion(Annotation( ) "Bone pain") +AnnotationAssertion(Annotation( ) "Bone pain") AnnotationAssertion( "HP:0002653") AnnotationAssertion(rdfs:label "Bone pain") SubClassOf( ) @@ -46017,11 +46010,11 @@ SubClassOf( (Epiphyseal dysplasia) -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal development of end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal development of end part of bone") AnnotationAssertion( "SNOMEDCT_US:254080004") AnnotationAssertion( "UMLS:C0392476") AnnotationAssertion( "UMLS:C4280566") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal development of the ends of long bones in arms and legs") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal development of the ends of long bones in arms and legs") AnnotationAssertion( "HP:0002656") AnnotationAssertion(rdfs:label "Epiphyseal dysplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46046,12 +46039,12 @@ AnnotationAssertion( "HP:0005783") AnnotationAssertion( "HP:0005931") AnnotationAssertion( "UMLS:C1390474") -AnnotationAssertion(Annotation( ) "Abnormal susceptibility to fractures") -AnnotationAssertion(Annotation( ) "Bone fragility") -AnnotationAssertion(Annotation( ) "Frequent broken bones") -AnnotationAssertion(Annotation( ) "Increased bone fragility") -AnnotationAssertion(Annotation( ) "Increased susceptibility to fractures") -AnnotationAssertion(Annotation( ) "Increased tendency to fractures") +AnnotationAssertion(Annotation( ) "Abnormal susceptibility to fractures") +AnnotationAssertion(Annotation( ) "Bone fragility") +AnnotationAssertion(Annotation( ) "Frequent broken bones") +AnnotationAssertion(Annotation( ) "Increased bone fragility") +AnnotationAssertion(Annotation( ) "Increased susceptibility to fractures") +AnnotationAssertion(Annotation( ) "Increased tendency to fractures") AnnotationAssertion( "HP:0002659") AnnotationAssertion(rdfs:comment "This is a bundled term that will be made obsolete.") AnnotationAssertion(rdfs:label "Increased susceptibility to fractures") @@ -46062,7 +46055,7 @@ SubClassOf( ) "An increased tendency to fractures following trauma, with fractures occurring without pain.") AnnotationAssertion( "UMLS:C1837602") -AnnotationAssertion(Annotation( ) "Painless fractures due to injury") +AnnotationAssertion(Annotation( ) "Painless fractures due to injury") AnnotationAssertion( "HP:0002661") AnnotationAssertion(rdfs:label "Painless fractures due to injury") SubClassOf( ) @@ -46076,7 +46069,7 @@ AnnotationAssertion( "Delayed epiphyseal maturation") AnnotationAssertion( "Delayed opacification of the epiphyses") AnnotationAssertion( "Epiphyseal ossification delay") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of end part of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of end part of long bone") AnnotationAssertion( "HP:0002663") AnnotationAssertion(rdfs:label "Delayed epiphyseal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -46088,7 +46081,7 @@ SubClassOf( ) "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).") AnnotationAssertion( "HP:0003008") AnnotationAssertion( "HP:0006741") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal tissue mass") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal tissue mass") AnnotationAssertion( "MSH:D009369") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:108369006") @@ -46099,7 +46092,7 @@ AnnotationAssertion( "Oncological abnormality") AnnotationAssertion( "Tumor") AnnotationAssertion( "Tumour") -AnnotationAssertion(Annotation( ) "Cancer") +AnnotationAssertion(Annotation( ) "Cancer") AnnotationAssertion(Annotation( ) "Oncology") AnnotationAssertion( "HP:0002664") AnnotationAssertion(rdfs:comment "The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer.") @@ -46116,7 +46109,7 @@ AnnotationAssertion( "SNOMEDCT_US:188676008") AnnotationAssertion( "SNOMEDCT_US:21964009") AnnotationAssertion( "UMLS:C0024299") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cancer of lymphatic system") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cancer of lymphatic system") AnnotationAssertion( "HP:0002665") AnnotationAssertion(rdfs:label "Lymphoma") SubClassOf( ) @@ -46180,7 +46173,7 @@ AnnotationAssertion( "SNOMEDCT_US:21708004") AnnotationAssertion( "SNOMEDCT_US:307576001") AnnotationAssertion( "UMLS:C0029463") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone cell cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone cell cancer") AnnotationAssertion( "Osteogenic sarcoma") AnnotationAssertion( "HP:0002669") AnnotationAssertion(rdfs:label "Osteosarcoma") @@ -46233,8 +46226,8 @@ SubClassOf( "PMID:19125436") Annotation( "PMID:29089832") "Trilobar skull configuration when viewed from the front or behind.") AnnotationAssertion( "HP:0004477") AnnotationAssertion( "HP:0005459") -AnnotationAssertion(Annotation( ) Annotation( ) "Cloverleaf cranium shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Cloverleaf skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Cloverleaf cranium shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Cloverleaf skull shape") AnnotationAssertion(Annotation( ) "Trilobar cranium shape") AnnotationAssertion(Annotation( ) "Trilobar skull shape") AnnotationAssertion( "UMLS:C1860050") @@ -46255,8 +46248,8 @@ AnnotationAssertion( "UMLS:C1861217") AnnotationAssertion( "UMLS:C4072838") AnnotationAssertion( "Foramen magnum stenosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Little foramen magnum") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow foramen magnum") +AnnotationAssertion(Annotation( ) Annotation( ) "Little foramen magnum") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow foramen magnum") AnnotationAssertion(Annotation( ) "Hypoplasia of foramen magnum") AnnotationAssertion(Annotation( ) "Stenosis of foramen magnum") AnnotationAssertion( "HP:0002677") @@ -46268,16 +46261,16 @@ SubClassOf( (Skull asymmetry) -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of skull shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal skull shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven skull shape") AnnotationAssertion( "SNOMEDCT_US:248372000") AnnotationAssertion( "UMLS:C0424690") AnnotationAssertion( "UMLS:C4280562") AnnotationAssertion( "UMLS:C4280563") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of skull") -AnnotationAssertion(Annotation( ) "Skull asymmetry") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of skull shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of skull") +AnnotationAssertion(Annotation( ) "Skull asymmetry") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of skull shape") AnnotationAssertion( "HP:0002678") AnnotationAssertion(rdfs:label "Skull asymmetry") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46342,11 +46335,11 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:248374004") AnnotationAssertion( "UMLS:C0424693") AnnotationAssertion(Annotation( ) "Broad cranium") -AnnotationAssertion(Annotation( ) "Broad skull") +AnnotationAssertion(Annotation( ) "Broad skull") AnnotationAssertion(Annotation( ) "Increased width of cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of skull") AnnotationAssertion(Annotation( ) "Wide cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide skull") AnnotationAssertion( "HP:0002682") AnnotationAssertion(rdfs:label "Broad skull") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46356,15 +46349,15 @@ SubClassOf( ) "Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.") AnnotationAssertion( "HP:0002648") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cranium") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cranium") AnnotationAssertion( "UMLS:C4025691") AnnotationAssertion( "UMLS:C4280561") AnnotationAssertion(Annotation( ) "Abnormality of calvarium") AnnotationAssertion(Annotation( ) "Abnormality of cranial vault") AnnotationAssertion( "Abnormality of the calvaria") AnnotationAssertion( "Abnormality of the shape of calvarium") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the skull cap") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the skullcap") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the skull cap") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the skullcap") AnnotationAssertion( "HP:0002683") AnnotationAssertion(rdfs:comment "The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature.") AnnotationAssertion(rdfs:label "Abnormal calvaria morphology") @@ -46383,13 +46376,13 @@ AnnotationAssertion( ) "Increased thickness of calvaria") AnnotationAssertion(Annotation( ) "Increased thickness of calvarium") AnnotationAssertion(Annotation( ) "Increased thickness of cranial vault") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of skull cap") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of skull cap") AnnotationAssertion( "Thick calvaria") AnnotationAssertion( "Thick calvarium") AnnotationAssertion( "Thickened calvarium") AnnotationAssertion( "Thickened cranial vault") AnnotationAssertion( "Thickened cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickened skull cap") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickened skull cap") AnnotationAssertion( "Thickening of the calvaria") AnnotationAssertion( "HP:0002684") AnnotationAssertion(rdfs:label "Thickened calvaria") @@ -46401,7 +46394,7 @@ SubClassOf( "Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.") AnnotationAssertion( "UMLS:C4025690") AnnotationAssertion( "Prenatal maternal abnormality") -AnnotationAssertion(Annotation( ) "Maternal health problem") +AnnotationAssertion(Annotation( ) "Maternal health problem") AnnotationAssertion( "HP:0002686") AnnotationAssertion(rdfs:label "Pregnancy history") SubClassOf( ) @@ -46411,7 +46404,7 @@ SubClassOf( ) "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.") AnnotationAssertion( "UMLS:C4025689") AnnotationAssertion(Annotation( ) "Abnormality of sinus frontalis") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the forehead sinus") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the forehead sinus") AnnotationAssertion( "HP:0002687") AnnotationAssertion(rdfs:label "Abnormality of frontal sinus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46438,12 +46431,12 @@ SubClassOf( (Absent paranasal sinuses) AnnotationAssertion(Annotation( ) "Aplasia of the paranasal sinuses.") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing sinuses") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing sinuses") AnnotationAssertion( "UMLS:C1857131") AnnotationAssertion( "UMLS:C3804986") AnnotationAssertion( "UMLS:C4072844") AnnotationAssertion(Annotation( ) "Absence of paranasal sinuses") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing paranasal sinuses") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing paranasal sinuses") AnnotationAssertion(Annotation( ) "Aplasia of paranasal sinuses") AnnotationAssertion( "HP:0002689") AnnotationAssertion(rdfs:label "Absent paranasal sinuses") @@ -46457,14 +46450,14 @@ AnnotationAssertion( "UMLS:C1843677") AnnotationAssertion( "UMLS:C4072845") AnnotationAssertion( "UMLS:C4072846") -AnnotationAssertion(Annotation( ) Annotation( ) "Big sella turcica") +AnnotationAssertion(Annotation( ) Annotation( ) "Big sella turcica") AnnotationAssertion( "Enlarged sella turcica") AnnotationAssertion(Annotation( ) "Hyperplasia of sella turcica") AnnotationAssertion( "Prominent sella turcica") AnnotationAssertion(Annotation( ) "Hyperplasia of hypophysial fossa") AnnotationAssertion(Annotation( ) "Hyperplasia of pituitary fossa") -AnnotationAssertion(Annotation( ) Annotation( ) "Large hypophysial fossa") -AnnotationAssertion(Annotation( ) Annotation( ) "Large pituitary fossa") +AnnotationAssertion(Annotation( ) Annotation( ) "Large hypophysial fossa") +AnnotationAssertion(Annotation( ) Annotation( ) "Large pituitary fossa") AnnotationAssertion( "HP:0002690") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Large sella turcica") @@ -46474,7 +46467,7 @@ SubClassOf( (Platybasia) AnnotationAssertion(Annotation( ) "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of the skull base") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of the skull base") AnnotationAssertion( "MSH:D010985") AnnotationAssertion( "SNOMEDCT_US:86587003") AnnotationAssertion( "UMLS:C0032209") @@ -46489,19 +46482,19 @@ SubClassOf( (Hypoplastic facial bones) AnnotationAssertion(Annotation( ) "Hypoplasia of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Small facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Small facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Small facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of facial skeleton") AnnotationAssertion( "UMLS:C1846438") AnnotationAssertion( "UMLS:C4229090") AnnotationAssertion( "UMLS:C4280268") AnnotationAssertion( "UMLS:C4280557") AnnotationAssertion( "UMLS:C4280558") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of facial skeleton") AnnotationAssertion(Annotation( ) "Hypotrophic facial bones") AnnotationAssertion(Annotation( ) "Hypotrophic facial skeleton") AnnotationAssertion( "HP:0002692") @@ -46514,7 +46507,7 @@ SubClassOf( ) "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.") AnnotationAssertion( "UMLS:C4025688") AnnotationAssertion(Annotation( ) "Abnormality of cranial base") -AnnotationAssertion(Annotation( ) "Abnormality of the skull base") +AnnotationAssertion(Annotation( ) "Abnormality of the skull base") AnnotationAssertion( "HP:0002693") AnnotationAssertion(rdfs:label "Abnormal skull base morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46527,15 +46520,15 @@ AnnotationAssertion( "UMLS:C1851714") AnnotationAssertion( "UMLS:C4072847") AnnotationAssertion( "UMLS:C4072848") -AnnotationAssertion(Annotation( ) Annotation( ) "Dense bone of skull base") +AnnotationAssertion(Annotation( ) Annotation( ) "Dense bone of skull base") AnnotationAssertion(Annotation( ) "Hyperossification of skull base") AnnotationAssertion(Annotation( ) "Hyperostosis of skull base") AnnotationAssertion( "Marked sclerosis of skull base") AnnotationAssertion(Annotation( ) "Sclerosis of cranial base") AnnotationAssertion( "Sclerosis of the skull base") AnnotationAssertion( "Sclerotic skull base") -AnnotationAssertion(Annotation( ) Annotation( ) "HyperCalcification of skull base") -AnnotationAssertion(Annotation( ) Annotation( ) "HyperMineralization of skull base") +AnnotationAssertion(Annotation( ) Annotation( ) "HyperCalcification of skull base") +AnnotationAssertion(Annotation( ) Annotation( ) "HyperMineralization of skull base") AnnotationAssertion( "HP:0002694") AnnotationAssertion(rdfs:label "Sclerosis of skull base") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46571,8 +46564,8 @@ AnnotationAssertion( ) "Persistent foramina of the parietal bones") AnnotationAssertion( "Symmetrical, oval defects in the parietal bone") AnnotationAssertion( "Symmetrical, oval parietal bone defects") -AnnotationAssertion(Annotation( ) Annotation( ) "Holes in parietal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Openings in parietal bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Holes in parietal bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Openings in parietal bones") AnnotationAssertion( "HP:0002697") AnnotationAssertion(rdfs:comment "Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.") AnnotationAssertion(rdfs:label "Parietal foramina") @@ -46597,7 +46590,7 @@ AnnotationAssertion( "UMLS:C4073291") AnnotationAssertion( "UMLS:C4280554") AnnotationAssertion( "UMLS:C4280555") -AnnotationAssertion(Annotation( ) Annotation( ) "Big foramen magnum") +AnnotationAssertion(Annotation( ) Annotation( ) "Big foramen magnum") AnnotationAssertion(Annotation( ) "Dilation of foramen magnum") AnnotationAssertion( "Enlarged foramen magnum") AnnotationAssertion(Annotation( ) "Wide foramen magnum") @@ -46614,7 +46607,7 @@ SubClassOf( ) "An abnormality of the process of ossification of the skull.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-02-28T11:53:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of skull bone formation") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of skull bone formation") AnnotationAssertion( "UMLS:C4025686") AnnotationAssertion( "UMLS:C4280550") AnnotationAssertion( "UMLS:C4280551") @@ -46626,7 +46619,7 @@ AnnotationAssertion(Annotation( ) "Abnormality of bone calcification of cranium") AnnotationAssertion(Annotation( ) "Abnormality of bone calcification of skull") AnnotationAssertion(Annotation( ) "Abnormality of bone formation of calvarium") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of bone formation of cranium") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of bone formation of cranium") AnnotationAssertion(Annotation( ) "Abnormality of bone mineralization of calvarium") AnnotationAssertion(Annotation( ) "Abnormality of bone mineralization of cranium") AnnotationAssertion(Annotation( ) "Abnormality of bone mineralization of skull") @@ -46643,12 +46636,12 @@ AnnotationAssertion( ) "Gothic palate") AnnotationAssertion( "High narrow palate") AnnotationAssertion(Annotation( ) "High vaulted palate") -AnnotationAssertion(Annotation( ) "High, narrow palate") +AnnotationAssertion(Annotation( ) "High, narrow palate") AnnotationAssertion( "Narrow and high arched palate") AnnotationAssertion( "Narrow, high-arched palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow, high-arched roof of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow, high-arched roof of mouth") AnnotationAssertion( "Narrow, highly arched palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow, highly arched roof of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow, highly arched roof of mouth") AnnotationAssertion( "HP:0002705") AnnotationAssertion(rdfs:label "High, narrow palate") SubClassOf( ) @@ -46664,9 +46657,9 @@ AnnotationAssertion(Annotation( ) "Palatal telangiectasia") AnnotationAssertion( "Palate telangiectases") AnnotationAssertion( "Palate teleangiectases") -AnnotationAssertion(Annotation( ) Annotation( ) "Telangiectasia of the roof of the mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Palatal spider veins") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the roof of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Telangiectasia of the roof of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Palatal spider veins") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the roof of the mouth") AnnotationAssertion( "HP:0002707") AnnotationAssertion(rdfs:label "Palate telangiectasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -46678,7 +46671,7 @@ SubClassOf( ) "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.") AnnotationAssertion( "UMLS:C1845108") AnnotationAssertion(Annotation( ) "Prominent central palatal ridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent central ridge on roof of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent central ridge on roof of the mouth") AnnotationAssertion(Annotation( ) "Prominent medial palatal suture") AnnotationAssertion( "HP:0002708") AnnotationAssertion(rdfs:label "Prominent median palatal raphe") @@ -46690,8 +46683,8 @@ AnnotationAssertion(Annotation( "UMLS:C0399605") AnnotationAssertion(Annotation( ) "Commissural labial pits") AnnotationAssertion( "Commissural pit") -AnnotationAssertion(Annotation( ) Annotation( ) "Lip pits at corners of the mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Pits at the corners of the lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Lip pits at corners of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Pits at the corners of the lips") AnnotationAssertion( "HP:0002710") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture.") @@ -46703,9 +46696,9 @@ SubClassOf( ) "Increased depth of the median tongue furrow.") AnnotationAssertion( "UMLS:C1845109") AnnotationAssertion(Annotation( ) "Deep central lingual furrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep central lingual groove") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep central lingual groove") AnnotationAssertion(Annotation( ) "Deep central tongue furrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep central tongue groove") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep central tongue groove") AnnotationAssertion(Annotation( ) "Deep median lingual furrow") AnnotationAssertion(Annotation( ) "Deep median lingual groove") AnnotationAssertion(Annotation( ) "Deep median tongue furrow") @@ -46720,9 +46713,9 @@ SubClassOf( ) Annotation( "PMID:19125428") "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.") AnnotationAssertion( "HP:0000192") AnnotationAssertion( "UMLS:C1866195") -AnnotationAssertion(Annotation( ) "Downturned corners of mouth") -AnnotationAssertion(Annotation( ) "Downturned corners of the mouth") -AnnotationAssertion(Annotation( ) "Downturned mouth") +AnnotationAssertion(Annotation( ) "Downturned corners of mouth") +AnnotationAssertion(Annotation( ) "Downturned corners of the mouth") +AnnotationAssertion(Annotation( ) "Downturned mouth") AnnotationAssertion(Annotation( ) "Downturned oral commisures") AnnotationAssertion( "HP:0002714") AnnotationAssertion( ) @@ -46737,8 +46730,8 @@ AnnotationAssertion( "HP:0003346") AnnotationAssertion( "HP:0010986") AnnotationAssertion( "UMLS:C4021753") -AnnotationAssertion(Annotation( ) "Abnormality of the immune system") -AnnotationAssertion(Annotation( ) "Immunological abnormality") +AnnotationAssertion(Annotation( ) "Abnormality of the immune system") +AnnotationAssertion(Annotation( ) "Immunological abnormality") AnnotationAssertion( "HP:0002715") AnnotationAssertion(rdfs:comment "The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.") AnnotationAssertion(rdfs:label "Abnormality of the immune system") @@ -46753,7 +46746,7 @@ AnnotationAssertion( "SNOMEDCT_US:30746006") AnnotationAssertion( "UMLS:C0497156") AnnotationAssertion( "Lymph node hyperplasia") -AnnotationAssertion(Annotation( ) "Swollen lymph nodes") +AnnotationAssertion(Annotation( ) "Swollen lymph nodes") AnnotationAssertion( "HP:0002716") AnnotationAssertion(rdfs:label "Lymphadenopathy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46783,15 +46776,15 @@ AnnotationAssertion( "UMLS:C1844383") AnnotationAssertion( "UMLS:C2748958") AnnotationAssertion( "UMLS:C4020846") -AnnotationAssertion(Annotation( ) "Bacterial infections, recurrent") -AnnotationAssertion(Annotation( ) "Frequent bacterial infections") +AnnotationAssertion(Annotation( ) "Bacterial infections, recurrent") +AnnotationAssertion(Annotation( ) "Frequent bacterial infections") AnnotationAssertion( "Frequent pyogenic infections") -AnnotationAssertion(Annotation( ) "Increased susceptibility to bacterial infections") -AnnotationAssertion(Annotation( ) "Recurrent bacterial infections") -AnnotationAssertion(Annotation( ) "Recurrent major bacterial infections") +AnnotationAssertion(Annotation( ) "Increased susceptibility to bacterial infections") +AnnotationAssertion(Annotation( ) "Recurrent bacterial infections") +AnnotationAssertion(Annotation( ) "Recurrent major bacterial infections") AnnotationAssertion( "Recurrent pyogenic infections") AnnotationAssertion( "Susceptibility to pyogenic infection") -AnnotationAssertion(Annotation( ) "Prone to bacterial infection") +AnnotationAssertion(Annotation( ) "Prone to bacterial infection") AnnotationAssertion( "HP:0002718") AnnotationAssertion(rdfs:label "Recurrent bacterial infections") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46804,13 +46797,13 @@ AnnotationAssertion( "HP:0002964") AnnotationAssertion( "HP:0005405") AnnotationAssertion( "UMLS:C0239998") -AnnotationAssertion(Annotation( ) "Frequent infections") -AnnotationAssertion(Annotation( ) "Frequent, severe infections") -AnnotationAssertion(Annotation( ) "Increased frequency of infection") -AnnotationAssertion(Annotation( ) "Predisposition to infections") -AnnotationAssertion(Annotation( ) "Recurrent infections") -AnnotationAssertion(Annotation( ) "Susceptibility to infection") -AnnotationAssertion(Annotation( ) Annotation( ) "infections, recurrent") +AnnotationAssertion(Annotation( ) "Frequent infections") +AnnotationAssertion(Annotation( ) "Frequent, severe infections") +AnnotationAssertion(Annotation( ) "Increased frequency of infection") +AnnotationAssertion(Annotation( ) "Predisposition to infections") +AnnotationAssertion(Annotation( ) "Recurrent infections") +AnnotationAssertion(Annotation( ) "Susceptibility to infection") +AnnotationAssertion(Annotation( ) Annotation( ) "infections, recurrent") AnnotationAssertion( "HP:0002719") AnnotationAssertion(rdfs:label "Recurrent infections") SubClassOf( ) @@ -46845,7 +46838,7 @@ AnnotationAssertion( "MSH:D007153") AnnotationAssertion( "SNOMEDCT_US:234532001") AnnotationAssertion( "UMLS:C0021051") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased immune function") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased immune function") AnnotationAssertion( "Immune deficiency") AnnotationAssertion( "HP:0002721") AnnotationAssertion(rdfs:label "Immunodeficiency") @@ -46946,7 +46939,7 @@ SubClassOf( ) "Underdevelopment of the lymph nodes.") AnnotationAssertion( "UMLS:C1865377") AnnotationAssertion( "UMLS:C4025683") -AnnotationAssertion(Annotation( ) "Small lymph nodes") +AnnotationAssertion(Annotation( ) "Small lymph nodes") AnnotationAssertion( "HP:0002732") AnnotationAssertion(rdfs:label "Lymph node hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46957,8 +46950,8 @@ SubClassOf( ) "A structural lymph node abnormality.") AnnotationAssertion( "HP:0008149") AnnotationAssertion( "UMLS:C0149727") -AnnotationAssertion(Annotation( ) "Abnormal lymph node histology") -AnnotationAssertion(Annotation( ) "Abnormality of the lymph nodes") +AnnotationAssertion(Annotation( ) "Abnormal lymph node histology") +AnnotationAssertion(Annotation( ) "Abnormality of the lymph nodes") AnnotationAssertion( "HP:0002733") AnnotationAssertion(rdfs:label "Abnormal lymph node morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -46967,9 +46960,9 @@ SubClassOf( (Thick skull base) AnnotationAssertion( "UMLS:C1839507") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of bone of skull base") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of skull base") -AnnotationAssertion(Annotation( ) "Thick skull base") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of bone of skull base") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of skull base") +AnnotationAssertion(Annotation( ) "Thick skull base") AnnotationAssertion( "HP:0002737") AnnotationAssertion(rdfs:label "Thick skull base") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47034,7 +47027,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:1085331000119107") AnnotationAssertion( "UMLS:C1398522") AnnotationAssertion( "Bilateral cleft lip and cleft palate") -AnnotationAssertion(Annotation( ) Annotation( ) "Right and left cleft lip and palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Right and left cleft lip and palate") AnnotationAssertion( "HP:0002744") AnnotationAssertion(rdfs:label "Bilateral cleft lip and palate") SubClassOf( ) @@ -47055,7 +47048,7 @@ AnnotationAssertion(Annotation( ) "Oral leucoplakia") AnnotationAssertion(Annotation( ) "Oral leukokeratosis") AnnotationAssertion(Annotation( ) "Oral leukoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Oral white patch") +AnnotationAssertion(Annotation( ) Annotation( ) "Oral white patch") AnnotationAssertion(Annotation( ) "Oral white plaque") AnnotationAssertion(Annotation( ) "leukokeratosis") AnnotationAssertion( "HP:0002745") @@ -47069,7 +47062,7 @@ SubClassOf( "HP:0004882") AnnotationAssertion( "HP:0004888") AnnotationAssertion( "UMLS:C3806467") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased lung function due to weak breathing muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased lung function due to weak breathing muscles") AnnotationAssertion( "Decreased respiratory function due to muscle weakness") AnnotationAssertion( "Respiratory distress due to muscle weakness") AnnotationAssertion( "Respiratory failure due to muscle weakness") @@ -47085,7 +47078,7 @@ AnnotationAssertion(Annotation( "MSH:D012279") AnnotationAssertion( "SNOMEDCT_US:41345002") AnnotationAssertion( "UMLS:C0035579") -AnnotationAssertion(Annotation( ) Annotation( ) "Weak and soft bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Weak and soft bones") AnnotationAssertion( "HP:0002748") AnnotationAssertion(rdfs:label "Rickets") SubClassOf( ) @@ -47095,7 +47088,7 @@ SubClassOf( ) "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.") AnnotationAssertion( "SNOMEDCT_US:4598005") AnnotationAssertion( "UMLS:C0029442") -AnnotationAssertion(Annotation( ) "Softening of the bones") +AnnotationAssertion(Annotation( ) "Softening of the bones") AnnotationAssertion( "HP:0002749") AnnotationAssertion(rdfs:label "Osteomalacia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47110,8 +47103,8 @@ AnnotationAssertion( "UMLS:C0541764") AnnotationAssertion( "Delayed bone age") AnnotationAssertion( "Delayed bone age before puberty") -AnnotationAssertion(Annotation( ) "Delayed bone maturation") -AnnotationAssertion(Annotation( ) "Delayed skeletal development") +AnnotationAssertion(Annotation( ) "Delayed bone maturation") +AnnotationAssertion(Annotation( ) "Delayed skeletal development") AnnotationAssertion( "Retarded bone age") AnnotationAssertion( "Skeletal maturation retardation") AnnotationAssertion( "Retarded ossification") @@ -47164,7 +47157,7 @@ AnnotationAssertion( "SNOMEDCT_US:60168000") AnnotationAssertion( "UMLS:C0029443") AnnotationAssertion( "UMLS:C2242472") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone infection") AnnotationAssertion( "HP:0002754") AnnotationAssertion(rdfs:comment "Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.") AnnotationAssertion(rdfs:label "Osteomyelitis") @@ -47187,7 +47180,7 @@ AnnotationAssertion( "SNOMEDCT_US:22640007") AnnotationAssertion( "SNOMEDCT_US:268029009") AnnotationAssertion( "UMLS:C0016663") -AnnotationAssertion(Annotation( ) "Spontaneous fracture") +AnnotationAssertion(Annotation( ) "Spontaneous fracture") AnnotationAssertion(Annotation( ) "Pathologic fractures") AnnotationAssertion(Annotation( ) "Spontaneous fractures") AnnotationAssertion( "HP:0002756") @@ -47209,12 +47202,12 @@ AnnotationAssertion( "UMLS:C3805574") AnnotationAssertion( "UMLS:C3806283") AnnotationAssertion( "Frequent fractures") -AnnotationAssertion(Annotation( ) "Increased fracture rate") -AnnotationAssertion(Annotation( ) "Increased fractures") -AnnotationAssertion(Annotation( ) "Multiple fractures") -AnnotationAssertion(Annotation( ) "Multiple spontaneous fractures") -AnnotationAssertion(Annotation( ) "Recurrent fractures") -AnnotationAssertion(Annotation( ) "Varying degree of multiple fractures") +AnnotationAssertion(Annotation( ) "Increased fracture rate") +AnnotationAssertion(Annotation( ) "Increased fractures") +AnnotationAssertion(Annotation( ) "Multiple fractures") +AnnotationAssertion(Annotation( ) "Multiple spontaneous fractures") +AnnotationAssertion(Annotation( ) "Recurrent fractures") +AnnotationAssertion(Annotation( ) "Varying degree of multiple fractures") AnnotationAssertion( "HP:0002757") AnnotationAssertion(rdfs:comment "This term will be made obsolete. The annotations need to be checked.") AnnotationAssertion(rdfs:label "Recurrent fractures") @@ -47231,7 +47224,7 @@ AnnotationAssertion( "SNOMEDCT_US:225655006") AnnotationAssertion( "SNOMEDCT_US:396275006") AnnotationAssertion( "UMLS:C0029408") -AnnotationAssertion(Annotation( ) "Degenerative joint disease") +AnnotationAssertion(Annotation( ) "Degenerative joint disease") AnnotationAssertion( "HP:0002758") AnnotationAssertion(rdfs:label "Osteoarthritis") SubClassOf( ) @@ -47241,7 +47234,7 @@ SubClassOf( ) "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.") AnnotationAssertion( "UMLS:C1836308") AnnotationAssertion(Annotation( ) "Generalised joint laxity") -AnnotationAssertion(Annotation( ) "Hypermobility of all joints") +AnnotationAssertion(Annotation( ) "Hypermobility of all joints") AnnotationAssertion(Annotation( ) "Joint laxity, generalised") AnnotationAssertion(Annotation( ) "Joint laxity, generalized") AnnotationAssertion( "HP:0002761") @@ -47263,7 +47256,7 @@ SubClassOf( ) "Any morphological abnormality of cartilage.") AnnotationAssertion( "HP:0410007") AnnotationAssertion( "UMLS:C4025680") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of cartilage") AnnotationAssertion( "Abnormality of cartilage morphology") AnnotationAssertion( "HP:0002763") AnnotationAssertion(rdfs:label "Abnormal cartilage morphology") @@ -47284,7 +47277,7 @@ SubClassOf( (Relatively short spine) AnnotationAssertion( "UMLS:C3277114") -AnnotationAssertion(Annotation( ) "Relatively short spine") +AnnotationAssertion(Annotation( ) "Relatively short spine") AnnotationAssertion( "HP:0002766") AnnotationAssertion(rdfs:label "Relatively short spine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47302,7 +47295,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "MSH:D014135") AnnotationAssertion( "SNOMEDCT_US:11296007") AnnotationAssertion( "UMLS:C0040583") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of windpipe") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of windpipe") AnnotationAssertion( "HP:0002777") AnnotationAssertion(rdfs:label "Tracheal stenosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47328,7 +47321,7 @@ SubClassOf( "MSH:D055090") AnnotationAssertion( "SNOMEDCT_US:95434006") AnnotationAssertion( "UMLS:C0948187") -AnnotationAssertion(Annotation( ) Annotation( ) "Floppy windpipe") +AnnotationAssertion(Annotation( ) Annotation( ) "Floppy windpipe") AnnotationAssertion( "HP:0002779") AnnotationAssertion(rdfs:label "Tracheomalacia") SubClassOf( ) @@ -47347,7 +47340,7 @@ SubClassOf( ) "Increased resistance to the passage of air in the upper airway.") AnnotationAssertion( "UMLS:C0740852") -AnnotationAssertion(Annotation( ) "Upper airway obstruction") +AnnotationAssertion(Annotation( ) "Upper airway obstruction") AnnotationAssertion( "HP:0002781") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Upper airway obstruction") @@ -47366,7 +47359,7 @@ AnnotationAssertion( "UMLS:C3163798") AnnotationAssertion( "Chronic lung infections") AnnotationAssertion( "Lower respiratory tract infections") -AnnotationAssertion(Annotation( ) "Recurrent chest infections") +AnnotationAssertion(Annotation( ) "Recurrent chest infections") AnnotationAssertion( "HP:0002783") AnnotationAssertion(rdfs:label "Recurrent lower respiratory tract infections") SubClassOf( ) @@ -47406,7 +47399,7 @@ AnnotationAssertion( "Frequent upper respiratory infections") AnnotationAssertion( "Frequent upper respiratory tract infections") AnnotationAssertion(Annotation( ) "Recurrent URI") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent colds") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent colds") AnnotationAssertion( "Recurrent upper respiratory and lower respiratory infections") AnnotationAssertion( "Recurrent upper respiratory infection") AnnotationAssertion( "Recurrent upper respiratory infections") @@ -47425,7 +47418,7 @@ AnnotationAssertion( "MSH:D059246") AnnotationAssertion( "SNOMEDCT_US:271823003") AnnotationAssertion( "UMLS:C0231835") -AnnotationAssertion(Annotation( ) "Increased respiratory rate or depth of breathing") +AnnotationAssertion(Annotation( ) "Increased respiratory rate or depth of breathing") AnnotationAssertion( "Polypnea") AnnotationAssertion( "HP:0002789") AnnotationAssertion(rdfs:comment "In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute.") @@ -47436,7 +47429,7 @@ SubClassOf( (Neonatal breathing dysregulation) AnnotationAssertion( "UMLS:C3806216") -AnnotationAssertion(Annotation( ) Annotation( ) "Impaired breathing in newborn") +AnnotationAssertion(Annotation( ) Annotation( ) "Impaired breathing in newborn") AnnotationAssertion( "HP:0002790") AnnotationAssertion(rdfs:label "Neonatal breathing dysregulation") SubClassOf( ) @@ -47453,8 +47446,8 @@ AnnotationAssertion( "UMLS:C0235063") AnnotationAssertion( "UMLS:C3203358") AnnotationAssertion( "Alveolar hypoventilation") -AnnotationAssertion(Annotation( ) Annotation( ) "Slow breathing") -AnnotationAssertion(Annotation( ) Annotation( ) "Under breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Slow breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Under breathing") AnnotationAssertion( "Respiratory depression") AnnotationAssertion( "HP:0002791") AnnotationAssertion(rdfs:comment "Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.") @@ -47478,9 +47471,9 @@ SubClassOf( ) "An anomaly of the rhythm or depth of breathing.") AnnotationAssertion( "UMLS:C1837388") -AnnotationAssertion(Annotation( ) "Abnormal pattern of respiration") -AnnotationAssertion(Annotation( ) "Abnormal respiratory patterns") -AnnotationAssertion(Annotation( ) "Unusual breathing patterns") +AnnotationAssertion(Annotation( ) "Abnormal pattern of respiration") +AnnotationAssertion(Annotation( ) "Abnormal respiratory patterns") +AnnotationAssertion(Annotation( ) "Unusual breathing patterns") AnnotationAssertion( "HP:0002793") AnnotationAssertion(rdfs:label "Abnormal pattern of respiration") SubClassOf( ) @@ -47491,9 +47484,9 @@ AnnotationAssertion( "Fyler:4200") AnnotationAssertion( "UMLS:C4025677") AnnotationAssertion(Annotation( ) "Abnormal respiration") -AnnotationAssertion(Annotation( ) "Functional respiratory abnormality") +AnnotationAssertion(Annotation( ) "Functional respiratory abnormality") AnnotationAssertion( "Impaired pulmonary function") -AnnotationAssertion(Annotation( ) "Respiratory problem") +AnnotationAssertion(Annotation( ) "Respiratory problem") AnnotationAssertion( "HP:0002795") AnnotationAssertion(rdfs:label "Abnormal respiratory system physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47507,7 +47500,7 @@ AnnotationAssertion( "SNOMEDCT_US:203522001") AnnotationAssertion( "SNOMEDCT_US:30425001") AnnotationAssertion( "UMLS:C0221204") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Breakdown of bone") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Breakdown of bone") AnnotationAssertion(Annotation( ) "Increased bone resorption") AnnotationAssertion( "Osteolytic defects of bones") AnnotationAssertion( "HP:0002797") @@ -47552,7 +47545,7 @@ SubClassOf( (Accelerated bone age after puberty) AnnotationAssertion( "UMLS:C1860825") -AnnotationAssertion(Annotation( ) "Accelerated bone age after puberty") +AnnotationAssertion(Annotation( ) "Accelerated bone age after puberty") AnnotationAssertion( "HP:0002805") AnnotationAssertion(rdfs:label "Accelerated bone age after puberty") SubClassOf( ) @@ -47567,9 +47560,9 @@ AnnotationAssertion( "UMLS:C0022821") AnnotationAssertion( "UMLS:C1845112") AnnotationAssertion( "Gibbus deformity") -AnnotationAssertion(Annotation( ) Annotation( ) "Hunched back") +AnnotationAssertion(Annotation( ) Annotation( ) "Hunched back") AnnotationAssertion( "Hyperkyphosis") -AnnotationAssertion(Annotation( ) "Round back") +AnnotationAssertion(Annotation( ) "Round back") AnnotationAssertion( "HP:0002808") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Kyphosis") @@ -47582,7 +47575,7 @@ AnnotationAssertion( "UMLS:C3277123") AnnotationAssertion( "Dumbbell shaped metaphyses") AnnotationAssertion(Annotation( ) "Dumbbell shaped metaphysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Dumbbell shaped wide portion of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Dumbbell shaped wide portion of long bone") AnnotationAssertion( "HP:0002810") AnnotationAssertion(rdfs:label "Dumbbell-shaped metaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47604,9 +47597,9 @@ SubClassOf( ) "Any abnormality of bones of the arms or legs.") AnnotationAssertion( "UMLS:C4082761") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of limb bone") -AnnotationAssertion(Annotation( ) "Arm and/or leg bone differences") -AnnotationAssertion(Annotation( ) "Limb abnormality") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of limb bone") +AnnotationAssertion(Annotation( ) "Arm and/or leg bone differences") +AnnotationAssertion(Annotation( ) "Limb abnormality") AnnotationAssertion( "HP:0002813") AnnotationAssertion(rdfs:label "Abnormality of limb bone morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47619,8 +47612,8 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:449715001") AnnotationAssertion( "UMLS:C1096086") AnnotationAssertion( "Abnormality of the leg") -AnnotationAssertion(Annotation( ) "Abnormality of the lower limb") -AnnotationAssertion(Annotation( ) "Lower limb deformities") +AnnotationAssertion(Annotation( ) "Abnormality of the lower limb") +AnnotationAssertion(Annotation( ) "Lower limb deformities") AnnotationAssertion( "HP:0002814") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the lower limb") @@ -47631,7 +47624,7 @@ SubClassOf( ) "An abnormality of the knee joint or surrounding structures.") AnnotationAssertion( "UMLS:C4025676") -AnnotationAssertion(Annotation( ) "Abnormality of the knee") +AnnotationAssertion(Annotation( ) "Abnormality of the knee") AnnotationAssertion( "HP:0002815") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the knee") @@ -47643,9 +47636,9 @@ SubClassOf( ) Annotation( "PMID:9580896") "An abnormally increased extension of the knee joint, so that the knee can bend backwards.") AnnotationAssertion(Annotation(rdfs:label "Genu recurvatum") "MEDDRA:10018194") AnnotationAssertion( "UMLS:C0546964") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/genu_recurvatum") Annotation( ) "Back knee") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/genu_recurvatum") Annotation( ) "Back knee") AnnotationAssertion( "Genu recurvata") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/genu_recurvatum") Annotation( ) "Knee hyperextension") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/genu_recurvatum") Annotation( ) "Knee hyperextension") AnnotationAssertion( "HP:0002816") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension.") @@ -47658,7 +47651,7 @@ AnnotationAssertion(Annotation( "HP:0003838") AnnotationAssertion( "UMLS:C4020900") AnnotationAssertion( "Abnormality of the arm") -AnnotationAssertion(Annotation( ) "Abnormality of the upper limb") +AnnotationAssertion(Annotation( ) "Abnormality of the upper limb") AnnotationAssertion( "HP:0002817") AnnotationAssertion(rdfs:label "Abnormality of the upper limb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47703,7 +47696,7 @@ AnnotationAssertion(Annotation( "HP:0001439") AnnotationAssertion( "UMLS:C4021750") AnnotationAssertion( "Abnormality of the femora") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the thighbone") AnnotationAssertion( "HP:0002823") AnnotationAssertion(rdfs:comment "The femur (plural: femora) is the thigh bone.") AnnotationAssertion(rdfs:label "Abnormality of femur morphology") @@ -47715,7 +47708,7 @@ SubClassOf( ) "The presence of a tail-like skin appendage located adjacent to the sacrum.") AnnotationAssertion( "UMLS:C3277117") AnnotationAssertion( "Coccygeal tail") -AnnotationAssertion(Annotation( ) Annotation( ) "Human tail") +AnnotationAssertion(Annotation( ) Annotation( ) "Human tail") AnnotationAssertion( "HP:0002825") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Caudal appendage") @@ -47737,9 +47730,9 @@ AnnotationAssertion( "MSH:D006617") AnnotationAssertion( "SNOMEDCT_US:157265008") AnnotationAssertion( "UMLS:C0019554") -AnnotationAssertion(Annotation( ) "Dislocated hips") -AnnotationAssertion(Annotation( ) "Dislocation of hip") -AnnotationAssertion(Annotation( ) "Hip dislocation") +AnnotationAssertion(Annotation( ) "Dislocated hips") +AnnotationAssertion(Annotation( ) "Dislocation of hip") +AnnotationAssertion(Annotation( ) "Hip dislocation") AnnotationAssertion( "HP:0002827") AnnotationAssertion(rdfs:label "Hip dislocation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47762,9 +47755,9 @@ AnnotationAssertion( "SNOMEDCT_US:57676002") AnnotationAssertion( "UMLS:C0003862") AnnotationAssertion( "Arthralgias") -AnnotationAssertion(Annotation( ) Annotation( ) "Joint pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Joint pain") AnnotationAssertion( "Arthritic pain") -AnnotationAssertion(Annotation( ) Annotation( ) "Joint pains") +AnnotationAssertion(Annotation( ) Annotation( ) "Joint pains") AnnotationAssertion( "HP:0002829") AnnotationAssertion(rdfs:comment "Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis.") AnnotationAssertion(rdfs:label "Arthralgia") @@ -47773,7 +47766,7 @@ SubClassOf( (Long coccyx) AnnotationAssertion( "UMLS:C3277116") -AnnotationAssertion(Annotation( ) Annotation( ) "Long tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Long tailbone") AnnotationAssertion( "HP:0002831") AnnotationAssertion(rdfs:label "Long coccyx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -47865,7 +47858,7 @@ AnnotationAssertion(Annotation( "MSH:D008199") AnnotationAssertion( "SNOMEDCT_US:19471005") AnnotationAssertion( "UMLS:C0024205") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the lymph nodes") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the lymph nodes") AnnotationAssertion( "HP:0002840") AnnotationAssertion(rdfs:label "Lymphadenitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -47879,7 +47872,7 @@ AnnotationAssertion( "HP:0005380") AnnotationAssertion( "HP:0005388") AnnotationAssertion( "UMLS:C1844384") -AnnotationAssertion(Annotation( ) "Recurrent fungal infections") +AnnotationAssertion(Annotation( ) "Recurrent fungal infections") AnnotationAssertion( "HP:0002841") AnnotationAssertion(rdfs:label "Recurrent fungal infections") SubClassOf( ) @@ -48008,7 +48001,7 @@ AnnotationAssertion( "Genu valgus") AnnotationAssertion( "Genua valga") AnnotationAssertion( "Knee joint valgus deformity") -AnnotationAssertion(Annotation( ) "Knock knees") +AnnotationAssertion(Annotation( ) "Knock knees") AnnotationAssertion( "HP:0002857") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Genu valgum") @@ -48019,7 +48012,7 @@ SubClassOf( ) "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.") AnnotationAssertion( "HP:0006754") -AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous growth of membranes covering brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous growth of membranes covering brain") AnnotationAssertion( "MSH:D008579") AnnotationAssertion( "NCIT:C3230") AnnotationAssertion( "UMLS:C0025286") @@ -48061,8 +48054,8 @@ AnnotationAssertion(Annotation( "HP:0002887") AnnotationAssertion( "HP:0006777") AnnotationAssertion( "HP:0007474") -AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of skin pigment cells") -AnnotationAssertion(Annotation( ) "Skin cancer (melanoma)") +AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of skin pigment cells") +AnnotationAssertion(Annotation( ) "Skin cancer (melanoma)") AnnotationAssertion( "MSH:D008545") AnnotationAssertion( "NCIT:C3224") AnnotationAssertion( "SNOMEDCT_US:2092003") @@ -48209,9 +48202,9 @@ SubClassOf( "PMID:29763022") "Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.") AnnotationAssertion( "SNOMEDCT_US:60845006") AnnotationAssertion( "UMLS:C0231807") -AnnotationAssertion(Annotation( ) "Exertional breathlessness") +AnnotationAssertion(Annotation( ) "Exertional breathlessness") AnnotationAssertion(Annotation( ) "Exertional dyspnoea") -AnnotationAssertion(Annotation( ) "Shortness of breathing upon physical activity") +AnnotationAssertion(Annotation( ) "Shortness of breathing upon physical activity") AnnotationAssertion( "HP:0002875") AnnotationAssertion(rdfs:label "Exertional dyspnea") SubClassOf( ) @@ -48245,7 +48238,7 @@ AnnotationAssertion( "MSH:D012131") AnnotationAssertion( "SNOMEDCT_US:409622000") AnnotationAssertion( "UMLS:C1145670") -AnnotationAssertion(Annotation( ) "Respiratory failure") +AnnotationAssertion(Annotation( ) "Respiratory failure") AnnotationAssertion( "HP:0002878") AnnotationAssertion(rdfs:comment "Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).") AnnotationAssertion(rdfs:label "Respiratory failure") @@ -48280,7 +48273,7 @@ AnnotationAssertion(Annotation( "MSH:D006985") AnnotationAssertion( "SNOMEDCT_US:68978004") AnnotationAssertion( "UMLS:C0020578") -AnnotationAssertion(Annotation( ) Annotation( ) "Rapid breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Rapid breathing") AnnotationAssertion( "HP:0002883") AnnotationAssertion(rdfs:label "Hyperventilation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -48371,7 +48364,7 @@ AnnotationAssertion( "SNOMEDCT_US:128664001") AnnotationAssertion( "SNOMEDCT_US:254956000") AnnotationAssertion( "UMLS:C0032000") -AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous tumor in pituitary gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous tumor in pituitary gland") AnnotationAssertion(Annotation( ) "Noncancerous tumour in pituitary gland") AnnotationAssertion( "Pituitary gland adenoma") AnnotationAssertion( "HP:0002893") @@ -48383,8 +48376,8 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the pancreas.") AnnotationAssertion( "HP:0004511") -AnnotationAssertion(Annotation( ) "Cancer of the pancreas") -AnnotationAssertion(Annotation( ) "Pancreatic cancer") +AnnotationAssertion(Annotation( ) "Cancer of the pancreas") +AnnotationAssertion(Annotation( ) "Pancreatic cancer") AnnotationAssertion( "MSH:D010190") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126859007") @@ -48393,9 +48386,9 @@ AnnotationAssertion( "UMLS:C0346647") AnnotationAssertion( "UMLS:C1842408") AnnotationAssertion( "Neoplasia of the pancreas") -AnnotationAssertion(Annotation( ) Annotation( ) "Pancreatic tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Pancreatic tumor") AnnotationAssertion(Annotation( ) "Pancreatic tumour") -AnnotationAssertion(Annotation( ) "increased risk of pancreatic cancer") +AnnotationAssertion(Annotation( ) "increased risk of pancreatic cancer") AnnotationAssertion( "HP:0002894") AnnotationAssertion(rdfs:label "Neoplasm of the pancreas") SubClassOf( ) @@ -48423,8 +48416,8 @@ AnnotationAssertion( "SNOMEDCT_US:93870000") AnnotationAssertion( "UMLS:C0023903") AnnotationAssertion( "UMLS:C0345904") -AnnotationAssertion(Annotation( ) "Liver cancer") -AnnotationAssertion(Annotation( ) Annotation( ) "Liver tumor") +AnnotationAssertion(Annotation( ) "Liver cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Liver tumor") AnnotationAssertion(Annotation( ) "Liver tumour") AnnotationAssertion( "HP:0002896") AnnotationAssertion(rdfs:label "Neoplasm of the liver") @@ -48463,7 +48456,7 @@ AnnotationAssertion( "SNOMEDCT_US:166690008") AnnotationAssertion( "SNOMEDCT_US:43339004") AnnotationAssertion( "UMLS:C0020621") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood potassium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood potassium levels") AnnotationAssertion( "HP:0002900") AnnotationAssertion(rdfs:label "Hypokalemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48476,7 +48469,7 @@ AnnotationAssertion( "SNOMEDCT_US:5291005") AnnotationAssertion( "UMLS:C0020598") AnnotationAssertion( "Hypocalcaemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood calcium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood calcium levels") AnnotationAssertion( "HP:0002901") AnnotationAssertion(rdfs:label "Hypocalcemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48488,7 +48481,7 @@ AnnotationAssertion(Annotation( "MSH:D007010") AnnotationAssertion( "SNOMEDCT_US:89627008") AnnotationAssertion( "UMLS:C0020625") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sodium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sodium levels") AnnotationAssertion( "HP:0002902") AnnotationAssertion(rdfs:label "Hyponatremia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48499,7 +48492,7 @@ SubClassOf( ) "An increased amount of bilirubin in the blood.") AnnotationAssertion( "SNOMEDCT_US:26165005") AnnotationAssertion( "UMLS:C0311468") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood bilirubin levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood bilirubin levels") AnnotationAssertion( "HP:0002904") AnnotationAssertion(rdfs:label "Hyperbilirubinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48512,7 +48505,7 @@ AnnotationAssertion( "SNOMEDCT_US:20165001") AnnotationAssertion( "UMLS:C0085681") AnnotationAssertion( "UMLS:C0553706") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood phosphate levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood phosphate levels") AnnotationAssertion( "HP:0002905") AnnotationAssertion(rdfs:label "Hyperphosphatemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48525,7 +48518,7 @@ AnnotationAssertion( "UMLS:C0239937") AnnotationAssertion( "Microhematuria") AnnotationAssertion( "Occult hematuria") -AnnotationAssertion(Annotation( ) Annotation( ) "Small amount of blood in urine") +AnnotationAssertion(Annotation( ) Annotation( ) "Small amount of blood in urine") AnnotationAssertion( "HP:0002907") AnnotationAssertion(rdfs:label "Microscopic hematuria") SubClassOf( ) @@ -48583,7 +48576,7 @@ AnnotationAssertion( "Elevated liver enzymes") AnnotationAssertion( "Elevated serum transaminases") AnnotationAssertion( "Elevated transaminases") -AnnotationAssertion(Annotation( ) "High liver enzymes") +AnnotationAssertion(Annotation( ) "High liver enzymes") AnnotationAssertion( "Increased liver enzymes") AnnotationAssertion( "Increased liver function tests") AnnotationAssertion( "Increased transaminases") @@ -48628,7 +48621,7 @@ SubClassOf( ) "An increased concentration of chloride in the urine.") AnnotationAssertion( "UMLS:C1846352") -AnnotationAssertion(Annotation( ) "Increased urinary chloride") +AnnotationAssertion(Annotation( ) "Increased urinary chloride") AnnotationAssertion( "HP:0002914") AnnotationAssertion(rdfs:label "Hyperchloriduria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48650,7 +48643,7 @@ AnnotationAssertion( "SNOMEDCT_US:190855004") AnnotationAssertion( "UMLS:C0151723") AnnotationAssertion(Annotation( ) "Low blood Mg levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood magnesium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood magnesium levels") AnnotationAssertion( "HP:0002917") AnnotationAssertion(rdfs:label "Hypomagnesemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48662,7 +48655,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:66978005") AnnotationAssertion( "UMLS:C0151714") AnnotationAssertion(Annotation( ) "High blood Mg levels") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood magnesium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood magnesium levels") AnnotationAssertion( "HP:0002918") AnnotationAssertion(rdfs:label "Hypermagnesemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -48762,7 +48755,7 @@ SubClassOf( ) "An abnormal functionality of the thyroid gland.") AnnotationAssertion( "UMLS:C0857576") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thyroid function") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thyroid function") AnnotationAssertion( "HP:0002926") AnnotationAssertion(rdfs:label "Abnormality of thyroid physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -48776,7 +48769,7 @@ AnnotationAssertion( "SNOMEDCT_US:78311009") AnnotationAssertion( "UMLS:C0268642") AnnotationAssertion( "Elevated histidine in urine") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine histidine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine histidine levels") AnnotationAssertion( "HP:0002927") AnnotationAssertion(rdfs:comment "Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours.") AnnotationAssertion(rdfs:label "Histidinuria") @@ -48857,7 +48850,7 @@ AnnotationAssertion( "HP:0007296") AnnotationAssertion( "UMLS:C1847584") AnnotationAssertion( "Decreased distal sensation") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased sensation in extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased sensation in extremities") AnnotationAssertion( "Distal sensation loss") AnnotationAssertion( "Distal sensory impairment in lower limbs") AnnotationAssertion( "Distal sensory impairment of the lower extremities") @@ -48875,7 +48868,7 @@ AnnotationAssertion( "UMLS:C0265677") AnnotationAssertion(Annotation( ) "Hemi-vertebrae") AnnotationAssertion( "Hemivertebra") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Missing part of vertebrae") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Missing part of vertebrae") AnnotationAssertion( "HP:0002937") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect.") @@ -48892,7 +48885,7 @@ AnnotationAssertion( "HP:0004596") AnnotationAssertion( "UMLS:C1184923") AnnotationAssertion( "Exaggerated lumbar lordosis") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive inward curvature of lower spine") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive inward curvature of lower spine") AnnotationAssertion( "Increased lumbar lordosis") AnnotationAssertion( "Lumbar lordosis") AnnotationAssertion( "Prominent lumbar lordosis") @@ -48962,7 +48955,7 @@ SubClassOf( ) "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.") AnnotationAssertion( "SNOMEDCT_US:298393001") AnnotationAssertion( "UMLS:C0575170") -AnnotationAssertion(Annotation( ) Annotation( ) "Rounded neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Rounded neck") AnnotationAssertion( "HP:0002947") AnnotationAssertion(rdfs:label "Cervical kyphosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -48980,7 +48973,7 @@ AnnotationAssertion( "UMLS:C3278509") AnnotationAssertion( "Fused vertebrae") AnnotationAssertion( "Fusion of vertebral bodies") -AnnotationAssertion(Annotation( ) "Spinal fusion") +AnnotationAssertion(Annotation( ) "Spinal fusion") AnnotationAssertion( "Vertebral body fusion") AnnotationAssertion( "HP:0002948") AnnotationAssertion( ) @@ -48995,7 +48988,7 @@ AnnotationAssertion( "UMLS:C3887527") AnnotationAssertion(Annotation( ) "Cervical spine fusion") AnnotationAssertion( "Cervical vertebral fusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused neck") AnnotationAssertion( "Fusion of cervical vertebrae") AnnotationAssertion( "HP:0002949") AnnotationAssertion(rdfs:label "Fused cervical vertebrae") @@ -49016,7 +49009,7 @@ AnnotationAssertion( "SNOMEDCT_US:84138006") AnnotationAssertion( "UMLS:C0262431") AnnotationAssertion( "UMLS:C0410550") -AnnotationAssertion(Annotation( ) Annotation( ) "Compression fracture of a vertebral body") +AnnotationAssertion(Annotation( ) Annotation( ) "Compression fracture of a vertebral body") AnnotationAssertion( "Fractures of vertebral bodies") AnnotationAssertion( "Vertebral body compression") AnnotationAssertion( "Vertebral collapse") @@ -49042,8 +49035,8 @@ SubClassOf( "PMID:26233425") "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.") AnnotationAssertion( "UMLS:C1844666") -AnnotationAssertion(Annotation( ) "Immune dysregulation") -AnnotationAssertion(Annotation( ) Annotation( ) "Unregulated immune response") +AnnotationAssertion(Annotation( ) "Immune dysregulation") +AnnotationAssertion(Annotation( ) Annotation( ) "Unregulated immune response") AnnotationAssertion( "HP:0002958") AnnotationAssertion(rdfs:label "Immune dysregulation") SubClassOf( ) @@ -49065,9 +49058,9 @@ AnnotationAssertion( "SNOMEDCT_US:85828009") AnnotationAssertion( "UMLS:C0004364") AnnotationAssertion( "Autoimmune condition") -AnnotationAssertion(Annotation( ) "Autoimmune disease") -AnnotationAssertion(Annotation( ) "Autoimmune disorder") -AnnotationAssertion(Annotation( ) "Autoimmunity") +AnnotationAssertion(Annotation( ) "Autoimmune disease") +AnnotationAssertion(Annotation( ) "Autoimmune disorder") +AnnotationAssertion(Annotation( ) "Autoimmunity") AnnotationAssertion( "HP:0002960") AnnotationAssertion(rdfs:label "Autoimmunity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49109,7 +49102,7 @@ SubClassOf( ) "Abnormal positioning in which the elbows are turned out.") AnnotationAssertion( "SNOMEDCT_US:54583007") AnnotationAssertion( "UMLS:C0158465") -AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned elbows") +AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned elbows") AnnotationAssertion( "HP:0002967") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Cubitus valgus") @@ -49124,8 +49117,8 @@ AnnotationAssertion( "UMLS:C0544755") AnnotationAssertion( "Genu vara") AnnotationAssertion( "Genua vara") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Outward bow-leggedness") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Outward bowing at knees") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Outward bow-leggedness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Outward bowing at knees") AnnotationAssertion( "HP:0002970") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Genu varum") @@ -49157,7 +49150,7 @@ SubClassOf( ) "An abnormality of the lower arm.") AnnotationAssertion( "UMLS:C4025666") -AnnotationAssertion(Annotation( ) "Abnormality of the forearm") +AnnotationAssertion(Annotation( ) "Abnormality of the forearm") AnnotationAssertion( "HP:0002973") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal forearm morphology") @@ -49172,7 +49165,7 @@ AnnotationAssertion(Annotation(rdfs:label "Radioulnar synostosis") "MSH:C562408") AnnotationAssertion( "SNOMEDCT_US:33313004") AnnotationAssertion( "UMLS:C0158761") -AnnotationAssertion(Annotation( ) "Fused forearm bones") +AnnotationAssertion(Annotation( ) "Fused forearm bones") AnnotationAssertion( "HP:0002974") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Radioulnar synostosis") @@ -49188,7 +49181,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-31T05:13:00Z") AnnotationAssertion( "HP:0001323") AnnotationAssertion( "UMLS:C4025665") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped central nervous system tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped central nervous system tissue") AnnotationAssertion(Annotation( ) "Aplasia/Hypoplasia involving the CNS") AnnotationAssertion( "HP:0002977") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the central nervous system") @@ -49204,8 +49197,8 @@ AnnotationAssertion( "UMLS:C0544755") AnnotationAssertion( "Bow legs") AnnotationAssertion( "Bow-leggedness") -AnnotationAssertion(Annotation( ) "Bowed legs") -AnnotationAssertion(Annotation( ) "Bowed lower limbs") +AnnotationAssertion(Annotation( ) "Bowed legs") +AnnotationAssertion(Annotation( ) "Bowed lower limbs") AnnotationAssertion( "HP:0002979") AnnotationAssertion(rdfs:label "Bowing of the legs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49220,7 +49213,7 @@ AnnotationAssertion( "Bowed femur") AnnotationAssertion(Annotation( ) "Bowed femura") AnnotationAssertion(Annotation( ) "Bowed femurs") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowed thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowed thighbone") AnnotationAssertion( "HP:0002980") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Femoral bowing") @@ -49232,7 +49225,7 @@ SubClassOf( ) "An abnormality of the calf, i.e. of the posterior part of the lower leg.") AnnotationAssertion( "UMLS:C4021832") -AnnotationAssertion(Annotation( ) "Abnormality of the calf") +AnnotationAssertion(Annotation( ) "Abnormality of the calf") AnnotationAssertion( "HP:0002981") AnnotationAssertion(rdfs:label "Abnormality of the calf") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49243,8 +49236,8 @@ SubClassOf( ) "A bending or abnormal curvature of the tibia.") AnnotationAssertion( "HP:0006363") AnnotationAssertion( "UMLS:C1837081") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowed shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowed shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowed shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowed shinbone") AnnotationAssertion( "Bowed tibia") AnnotationAssertion( "Bowing of the tibia") AnnotationAssertion( "HP:0002982") @@ -49263,7 +49256,7 @@ AnnotationAssertion( "MEDDRA:10027546") AnnotationAssertion( "SNOMEDCT_US:74370006") AnnotationAssertion( "UMLS:C0025995") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Smaller or shorter than typical limbs") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Smaller or shorter than typical limbs") AnnotationAssertion( "HP:0002983") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Micromelia") @@ -49289,7 +49282,7 @@ AnnotationAssertion( "Short radii") AnnotationAssertion( "Short radius") AnnotationAssertion( "Shortening of radius") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped outer large forearm bone") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped outer large forearm bone") AnnotationAssertion( "Radial ray hypoplasia") AnnotationAssertion( "HP:0002984") AnnotationAssertion( ) @@ -49306,7 +49299,7 @@ AnnotationAssertion( "UMLS:C1859399") AnnotationAssertion( "Bowed radii") AnnotationAssertion( "Bowed radius") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Bowing of outer large bone of the forearm") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Bowing of outer large bone of the forearm") AnnotationAssertion(Annotation( ) Annotation( ) "Bowing of radius bone of the forearm") AnnotationAssertion( "HP:0002986") AnnotationAssertion( ) @@ -49338,7 +49331,7 @@ AnnotationAssertion(Annotation( "HP:0006373") AnnotationAssertion(Annotation(rdfs:label "Fibula agenesis") "MEDDRA:10054882") AnnotationAssertion( "UMLS:C1836186") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent calf bone") AnnotationAssertion( "Absent fibulae") AnnotationAssertion( "Absent-hypoplastic fibulae") AnnotationAssertion( "HP:0002990") @@ -49351,7 +49344,7 @@ SubClassOf( ) "An anomaly of the calf bone (fibula), one of the two bones of the calf.") AnnotationAssertion( "UMLS:C4025664") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the calf bone") AnnotationAssertion( "HP:0002991") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of fibula morphology") @@ -49363,8 +49356,8 @@ SubClassOf( ) "Abnormality of the tibia (shinbone).") AnnotationAssertion( "UMLS:C4025663") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the shinbone") AnnotationAssertion( "HP:0002992") AnnotationAssertion(rdfs:label "Abnormality of tibia morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49375,10 +49368,10 @@ SubClassOf( "HP:0006395") AnnotationAssertion( "UMLS:C1849955") -AnnotationAssertion(Annotation( ) "Decreased elbow mobility") -AnnotationAssertion(Annotation( ) "Limited elbow mobility") -AnnotationAssertion(Annotation( ) "Limited elbow movement") -AnnotationAssertion(Annotation( ) "Restricted elbow motion") +AnnotationAssertion(Annotation( ) "Decreased elbow mobility") +AnnotationAssertion(Annotation( ) "Limited elbow mobility") +AnnotationAssertion(Annotation( ) "Limited elbow movement") +AnnotationAssertion(Annotation( ) "Restricted elbow motion") AnnotationAssertion( "HP:0002996") AnnotationAssertion(rdfs:label "Limited elbow movement") SubClassOf( ) @@ -49397,7 +49390,7 @@ AnnotationAssertion(Annotation( "MSH:D031222") AnnotationAssertion( "SNOMEDCT_US:263029007") AnnotationAssertion( "UMLS:C1135812") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated kneecap") AnnotationAssertion( "Dislocated patellae") AnnotationAssertion( "Dislocation of patella") AnnotationAssertion( "HP:0002999") @@ -49428,7 +49421,7 @@ AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "SNOMEDCT_US:254838004") AnnotationAssertion( "UMLS:C0678222") -AnnotationAssertion(Annotation( ) "Breast cancer") +AnnotationAssertion(Annotation( ) "Breast cancer") AnnotationAssertion( "HP:0003002") AnnotationAssertion(rdfs:label "Breast carcinoma") SubClassOf( ) @@ -49439,7 +49432,7 @@ AnnotationAssertion( "MSH:D003110") AnnotationAssertion( "SNOMEDCT_US:363406005") AnnotationAssertion( "UMLS:C0007102") -AnnotationAssertion(Annotation( ) "Colon cancer") +AnnotationAssertion(Annotation( ) "Colon cancer") AnnotationAssertion( "HP:0003003") AnnotationAssertion(rdfs:label "Colon cancer") SubClassOf( ) @@ -49466,7 +49459,7 @@ AnnotationAssertion( "SNOMEDCT_US:432328008") AnnotationAssertion( "SNOMEDCT_US:87364003") AnnotationAssertion( "UMLS:C0027819") -AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of early nerve cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of early nerve cells") AnnotationAssertion( "HP:0003006") AnnotationAssertion(rdfs:label "Neuroblastoma") SubClassOf( ) @@ -49486,7 +49479,7 @@ AnnotationAssertion( "HP:0008337") AnnotationAssertion( "UMLS:C0151529") AnnotationAssertion( "Increased bleeding time") -AnnotationAssertion(Annotation( ) "Prolonged bleeding time") +AnnotationAssertion(Annotation( ) "Prolonged bleeding time") AnnotationAssertion( "HP:0003010") AnnotationAssertion(rdfs:comment "The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes.") AnnotationAssertion(rdfs:label "Prolonged bleeding time") @@ -49499,7 +49492,7 @@ AnnotationAssertion( "HP:0003708") AnnotationAssertion( "HP:0040290") AnnotationAssertion( "UMLS:C4021745") -AnnotationAssertion(Annotation( ) "Muscular abnormality") +AnnotationAssertion(Annotation( ) "Muscular abnormality") AnnotationAssertion( "HP:0003011") AnnotationAssertion(rdfs:label "Abnormality of the musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49509,7 +49502,7 @@ SubClassOf( ) "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).") AnnotationAssertion( "UMLS:C1833329") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulging end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulging end part of bone") AnnotationAssertion( "HP:0003013") AnnotationAssertion(rdfs:label "Bulging epiphyses") SubClassOf( ) @@ -49524,7 +49517,7 @@ AnnotationAssertion( "HP:0005095") AnnotationAssertion( "HP:0200002") AnnotationAssertion( "UMLS:C1850135") -AnnotationAssertion(Annotation( ) Annotation( ) "Flared wide portion of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flared wide portion of long bone") AnnotationAssertion( "Flared, widened metaphyses") AnnotationAssertion( "Metaphyseal flaring") AnnotationAssertion( "Metaphyseal flaring of long bones") @@ -49543,7 +49536,7 @@ SubClassOf( ) "Abnormal widening of the metaphyseal regions of long bones.") AnnotationAssertion( "HP:0005074") AnnotationAssertion( "UMLS:C1849039") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of long bone") AnnotationAssertion( "Wide metaphyses") AnnotationAssertion( "Widened long bone metaphyses") AnnotationAssertion( "Widened metaphyses") @@ -49557,8 +49550,8 @@ SubClassOf( ) "Abnormality of the wrist, the structure connecting the hand and the forearm.") AnnotationAssertion( "HP:0001224") AnnotationAssertion( "UMLS:C4021744") -AnnotationAssertion(Annotation( ) "Abnormalities of the wrists") -AnnotationAssertion(Annotation( ) "Abnormality of the wrist") +AnnotationAssertion(Annotation( ) "Abnormalities of the wrists") +AnnotationAssertion(Annotation( ) "Abnormality of the wrist") AnnotationAssertion( "HP:0003019") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the wrist") @@ -49568,7 +49561,7 @@ SubClassOf( (Enlargement of the wrists) AnnotationAssertion( "UMLS:C1838663") -AnnotationAssertion(Annotation( ) "Enlargement of the wrists") +AnnotationAssertion(Annotation( ) "Enlargement of the wrists") AnnotationAssertion( "HP:0003020") AnnotationAssertion(rdfs:label "Enlargement of the wrists") SubClassOf( ) @@ -49595,7 +49588,7 @@ AnnotationAssertion( "Short ulna") AnnotationAssertion( "Short ulnae") AnnotationAssertion( "Ulnar hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped inner large forearm bone") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped inner large forearm bone") AnnotationAssertion(Annotation( ) "Underdeveloped ulna") AnnotationAssertion( "HP:0003022") AnnotationAssertion( ) @@ -49631,7 +49624,7 @@ AnnotationAssertion( "Frayed, irregular metaphyses") AnnotationAssertion( "Frayed, irregular, metaphyses") AnnotationAssertion( "Irregular metaphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of a long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of a long bone") AnnotationAssertion( "Metaphyseal fraying") AnnotationAssertion( "Metaphyseal irregularities") AnnotationAssertion( "HP:0003025") @@ -49657,8 +49650,8 @@ AnnotationAssertion( "HP:0006457") AnnotationAssertion( "HP:0006472") AnnotationAssertion( "UMLS:C1854912") -AnnotationAssertion(Annotation( ) "Long bone shortening") -AnnotationAssertion(Annotation( ) "Short long bone") +AnnotationAssertion(Annotation( ) "Long bone shortening") +AnnotationAssertion(Annotation( ) "Short long bone") AnnotationAssertion( "Short tubular bones") AnnotationAssertion( "shortened long tubular bones") AnnotationAssertion( "HP:0003026") @@ -49671,7 +49664,7 @@ SubClassOf( ) "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.") AnnotationAssertion( "UMLS:C0549306") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Disproportionately short middle portion of limb") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Disproportionately short middle portion of limb") AnnotationAssertion( "Mesomelic limb shortening") AnnotationAssertion( "Mesomelic shortening of limbs") AnnotationAssertion( "Symmetric mesomelic limb shortness") @@ -49684,7 +49677,7 @@ SubClassOf( "An anomaly of the joint that connects the foot with the leg.") AnnotationAssertion( "UMLS:C4025660") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the ankles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the ankles") AnnotationAssertion( "HP:0003028") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the ankle") @@ -49694,7 +49687,7 @@ SubClassOf( (Enlargement of the ankles) AnnotationAssertion( "UMLS:C1838664") -AnnotationAssertion(Annotation( ) "Enlargement of the ankles") +AnnotationAssertion(Annotation( ) "Enlargement of the ankles") AnnotationAssertion( "HP:0003029") AnnotationAssertion(rdfs:label "Enlargement of the ankles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49707,7 +49700,7 @@ AnnotationAssertion( "UMLS:C1865847") AnnotationAssertion( "Bowed ulna") AnnotationAssertion( "Curved ulna") -AnnotationAssertion(Annotation( ) Annotation( ) "Curving of inner forearm bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curving of inner forearm bone") AnnotationAssertion( "HP:0003031") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Ulnar bowing is usually in the convex posterior direction.") @@ -49726,7 +49719,7 @@ AnnotationAssertion( "UMLS:C0011989") AnnotationAssertion( "Craniodiaphyseal osteosclerosis") AnnotationAssertion( "Diaphyseal osteosclerosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in shaft of long bone") AnnotationAssertion( "HP:0003034") AnnotationAssertion(rdfs:label "Diaphyseal sclerosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -49737,7 +49730,7 @@ SubClassOf( ) "Increase in size of one or more joints.") AnnotationAssertion( "UMLS:C1859111") -AnnotationAssertion(Annotation( ) "Enlarged joints") +AnnotationAssertion(Annotation( ) "Enlarged joints") AnnotationAssertion( "Prominent joints") AnnotationAssertion( "HP:0003037") AnnotationAssertion( ) @@ -49753,7 +49746,7 @@ AnnotationAssertion( "HP:0006401") AnnotationAssertion( "UMLS:C1832119") AnnotationAssertion( "Hypoplastic fibula") -AnnotationAssertion(Annotation( ) Annotation( ) "Short calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short calf bone") AnnotationAssertion( "Short fibula") AnnotationAssertion( "Short fibulae") AnnotationAssertion( "HP:0003038") @@ -49768,7 +49761,7 @@ SubClassOf( "MSH:D007592") AnnotationAssertion( "SNOMEDCT_US:399269003") AnnotationAssertion( "UMLS:C0022408") -AnnotationAssertion(Annotation( ) Annotation( ) "Disease of the joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Disease of the joints") AnnotationAssertion( "HP:0003040") AnnotationAssertion(rdfs:label "Arthropathy") SubClassOf( ) @@ -49781,7 +49774,7 @@ AnnotationAssertion( "SNOMEDCT_US:205329008") AnnotationAssertion( "UMLS:C1863360") AnnotationAssertion( "UMLS:C2930865") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of upper and lower arm bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of upper and lower arm bones") AnnotationAssertion( "Humeral radial synostosis") AnnotationAssertion( "Humeral-radial synostosis") AnnotationAssertion( "Radiohumeral synostosis of elbow") @@ -49802,9 +49795,9 @@ AnnotationAssertion( "UMLS:C1403299") AnnotationAssertion( "UMLS:C1403321") AnnotationAssertion( "UMLS:C2720437") -AnnotationAssertion(Annotation( ) "Dislocations of the elbows") -AnnotationAssertion(Annotation( ) "Elbow dislocation") -AnnotationAssertion(Annotation( ) "Elbow dislocations") +AnnotationAssertion(Annotation( ) "Dislocations of the elbows") +AnnotationAssertion(Annotation( ) "Elbow dislocation") +AnnotationAssertion(Annotation( ) "Elbow dislocations") AnnotationAssertion( "Radiocapitellar dislocation") AnnotationAssertion( "Radiohumeral dislocation") AnnotationAssertion( "Ulnohumeral dislocation") @@ -49818,7 +49811,7 @@ SubClassOf( ) "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.") AnnotationAssertion( "UMLS:C4025659") -AnnotationAssertion(Annotation( ) "Abnormality of the shoulder") +AnnotationAssertion(Annotation( ) "Abnormality of the shoulder") AnnotationAssertion( "HP:0003043") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal shoulder morphology") @@ -49840,7 +49833,7 @@ SubClassOf( ) "Abnormality of the patella (knee cap).") AnnotationAssertion( "UMLS:C4021743") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kneecap") AnnotationAssertion( "Abnormality of the patella") AnnotationAssertion( "Patellar abnormality") AnnotationAssertion( "HP:0003045") @@ -49877,7 +49870,7 @@ SubClassOf( ) "Abnormal increase in size of one or more metaphyses.") AnnotationAssertion( "HP:0005018") AnnotationAssertion( "UMLS:C1855544") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged wide portion of a long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged wide portion of a long bone") AnnotationAssertion( "HP:0003051") AnnotationAssertion(rdfs:label "Enlarged metaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49927,10 +49920,10 @@ AnnotationAssertion(Annotation( "HP:0005020") AnnotationAssertion( "UMLS:C1840068") AnnotationAssertion( "Hypoplastic patellae") -AnnotationAssertion(Annotation( ) Annotation( ) "Small kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Small kneecap") AnnotationAssertion( "Small patella") AnnotationAssertion( "Small patellae") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped kneecap") AnnotationAssertion( "HP:0003065") AnnotationAssertion(rdfs:label "Patellar hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -49940,7 +49933,7 @@ SubClassOf( "Reduced ability to extend (straighten) the knee joint.") AnnotationAssertion( "UMLS:C1844690") -AnnotationAssertion(Annotation( ) "Limited knee extension") +AnnotationAssertion(Annotation( ) "Limited knee extension") AnnotationAssertion( "HP:0003066") AnnotationAssertion(rdfs:label "Limited knee extension") SubClassOf( ) @@ -49981,7 +49974,7 @@ AnnotationAssertion( "HP:0005076") AnnotationAssertion( "HP:0005080") AnnotationAssertion( "UMLS:C1857527") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat end part of bone") AnnotationAssertion( "Flat epiphyses") AnnotationAssertion( "HP:0003071") AnnotationAssertion(rdfs:label "Flattened epiphysis") @@ -49996,9 +49989,9 @@ AnnotationAssertion( "SNOMEDCT_US:166702002") AnnotationAssertion( "SNOMEDCT_US:66931009") AnnotationAssertion( "UMLS:C0020437") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood calcium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood calcium levels") AnnotationAssertion( "Hypercalcaemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased calcium in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased calcium in blood") AnnotationAssertion( "HP:0003072") AnnotationAssertion(rdfs:label "Hypercalcemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50007,12 +50000,12 @@ SubClassOf( (Hypoalbuminemia) AnnotationAssertion(Annotation( ) "Reduction in the concentration of albumin in the blood.") -AnnotationAssertion(Annotation( ) "Low albumin") +AnnotationAssertion(Annotation( ) "Low albumin") AnnotationAssertion( "MSH:D034141") AnnotationAssertion( "SNOMEDCT_US:119247004") AnnotationAssertion( "UMLS:C0239981") AnnotationAssertion( "Hypoalbuminaemia") -AnnotationAssertion(Annotation( ) "Low blood albumin") +AnnotationAssertion(Annotation( ) "Low blood albumin") AnnotationAssertion( "HP:0003073") AnnotationAssertion(rdfs:label "Hypoalbuminemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50026,7 +50019,7 @@ AnnotationAssertion( "SNOMEDCT_US:80394007") AnnotationAssertion( "UMLS:C0020456") AnnotationAssertion(Annotation( ) "High blood glucose") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood sugar") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood sugar") AnnotationAssertion( "HP:0003074") AnnotationAssertion(rdfs:label "Hyperglycemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50038,7 +50031,7 @@ AnnotationAssertion(Annotation( "MSH:D007019") AnnotationAssertion( "SNOMEDCT_US:8900005") AnnotationAssertion( "UMLS:C0020639") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased protein levels in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased protein levels in blood") AnnotationAssertion( "HP:0003075") AnnotationAssertion(rdfs:label "Hypoproteinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50052,7 +50045,7 @@ AnnotationAssertion( "MSH:D006029") AnnotationAssertion( "SNOMEDCT_US:45154002") AnnotationAssertion( "UMLS:C0017979") -AnnotationAssertion(Annotation( ) Annotation( ) "Glucose in urine") +AnnotationAssertion(Annotation( ) Annotation( ) "Glucose in urine") AnnotationAssertion( "Glucosuria") AnnotationAssertion( "HP:0003076") AnnotationAssertion(rdfs:comment "Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis.") @@ -50068,7 +50061,7 @@ AnnotationAssertion( "MSH:D006949") AnnotationAssertion( "SNOMEDCT_US:55822004") AnnotationAssertion( "UMLS:C0020473") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated lipids in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated lipids in blood") AnnotationAssertion( "HP:0003077") AnnotationAssertion(rdfs:comment "Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL).") AnnotationAssertion(rdfs:label "Hyperlipidemia") @@ -50086,7 +50079,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of 4-hydroxy-L-proline in the urine.") AnnotationAssertion( "UMLS:C0948585") -AnnotationAssertion(Annotation( ) "Elevated urinary hydroxyproline") +AnnotationAssertion(Annotation( ) "Elevated urinary hydroxyproline") AnnotationAssertion( "HP:0003080") AnnotationAssertion(rdfs:label "Hydroxyprolinuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50098,7 +50091,7 @@ AnnotationAssertion(Annotation( "UMLS:C1846351") AnnotationAssertion( "Hyperkaliuresis") AnnotationAssertion(Annotation( ) "Increased urinary K") -AnnotationAssertion(Annotation( ) "Increased urinary potassium") +AnnotationAssertion(Annotation( ) "Increased urinary potassium") AnnotationAssertion( "HP:0003081") AnnotationAssertion(rdfs:label "Increased urinary potassium") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50145,8 +50138,8 @@ SubClassOf( ) "Disproportionately long fibulae.") AnnotationAssertion( "UMLS:C1848109") AnnotationAssertion( "Disproportionately long fibula") -AnnotationAssertion(Annotation( ) Annotation( ) "Long calf bone") -AnnotationAssertion(Annotation( ) "Long fibula") +AnnotationAssertion(Annotation( ) Annotation( ) "Long calf bone") +AnnotationAssertion(Annotation( ) "Long fibula") AnnotationAssertion( "HP:0003085") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Long fibula") @@ -50164,8 +50157,8 @@ SubClassOf( (Premature osteoarthritis) AnnotationAssertion( "UMLS:C1835121") -AnnotationAssertion(Annotation( ) "Premature arthritis") -AnnotationAssertion(Annotation( ) "Premature osteoarthritis") +AnnotationAssertion(Annotation( ) "Premature arthritis") +AnnotationAssertion(Annotation( ) "Premature osteoarthritis") AnnotationAssertion( "HP:0003088") AnnotationAssertion(rdfs:label "Premature osteoarthritis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50175,7 +50168,7 @@ SubClassOf( "SNOMEDCT_US:203074005") AnnotationAssertion( "UMLS:C0410266") -AnnotationAssertion(Annotation( ) "Hamstring contractures") +AnnotationAssertion(Annotation( ) "Hamstring contractures") AnnotationAssertion( "HP:0003089") AnnotationAssertion(rdfs:label "Hamstring contractures") SubClassOf( ) @@ -50189,9 +50182,9 @@ AnnotationAssertion( "UMLS:C1839254") AnnotationAssertion( "Small capital femoral epiphyses") AnnotationAssertion( "Small femoral capital epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Small innermost thighbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Small innermost thighbone end part") AnnotationAssertion( "Small proximal femoral epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the innermost thighbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the innermost thighbone end part") AnnotationAssertion( "HP:0003090") AnnotationAssertion(rdfs:label "Hypoplasia of the capital femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50210,8 +50203,8 @@ SubClassOf( ) "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.") AnnotationAssertion( "HP:0008810") AnnotationAssertion( "UMLS:C3553368") -AnnotationAssertion(Annotation( ) "Limited hip extension") -AnnotationAssertion(Annotation( ) "Restricted hip extension") +AnnotationAssertion(Annotation( ) "Limited hip extension") +AnnotationAssertion(Annotation( ) "Restricted hip extension") AnnotationAssertion( "HP:0003093") AnnotationAssertion(rdfs:comment "Reduced ability to straighten out the femur.") AnnotationAssertion(rdfs:label "Limited hip extension") @@ -50220,7 +50213,7 @@ SubClassOf( (Septic arthritis) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Infected joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Infected joint") AnnotationAssertion( "MSH:D001170") AnnotationAssertion( "SNOMEDCT_US:372939007") AnnotationAssertion( "SNOMEDCT_US:396234004") @@ -50239,7 +50232,7 @@ AnnotationAssertion( "Femoral hypoplasia") AnnotationAssertion( "Hypoplasia of the femora") AnnotationAssertion( "Short femurs") -AnnotationAssertion(Annotation( ) Annotation( ) "Short thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short thighbone") AnnotationAssertion( "HP:0003097") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short femur") @@ -50251,7 +50244,7 @@ SubClassOf( ) Annotation( "PMID:17259417") "Relatively increased growth of the fibula compared to that of the tibia.") AnnotationAssertion( "UMLS:C1864298") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of calf bone") AnnotationAssertion( "HP:0003099") AnnotationAssertion(rdfs:label "Fibular overgrowth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50266,12 +50259,12 @@ AnnotationAssertion( "HP:0005064") AnnotationAssertion( "UMLS:C1833144") AnnotationAssertion( "Gracile long bones") -AnnotationAssertion(Annotation( ) "Long bones slender") -AnnotationAssertion(Annotation( ) "Slender long bone") +AnnotationAssertion(Annotation( ) "Long bones slender") +AnnotationAssertion(Annotation( ) "Slender long bone") AnnotationAssertion( "Slender, gracile long tubular bones") -AnnotationAssertion(Annotation( ) "Thin long bones") +AnnotationAssertion(Annotation( ) "Thin long bones") AnnotationAssertion( "Thin, gracile long bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bones") AnnotationAssertion( "Thin gracile long bones") AnnotationAssertion( "HP:0003100") AnnotationAssertion(rdfs:label "Slender long bone") @@ -50302,7 +50295,7 @@ SubClassOf( ) "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.") AnnotationAssertion( "UMLS:C1851418") -AnnotationAssertion(Annotation( ) "Protuberances at ends of long bones") +AnnotationAssertion(Annotation( ) "Protuberances at ends of long bones") AnnotationAssertion( "HP:0003105") AnnotationAssertion(rdfs:label "Protuberances at ends of long bones") SubClassOf( ) @@ -50324,7 +50317,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0003464") AnnotationAssertion( "UMLS:C4025656") AnnotationAssertion( "Abnormal cholesterol homeostasis") -AnnotationAssertion(Annotation( ) "Abnormality of cholesterol metabolism") +AnnotationAssertion(Annotation( ) "Abnormality of cholesterol metabolism") AnnotationAssertion( "HP:0003107") AnnotationAssertion(rdfs:label "Abnormal circulating cholesterol concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50339,7 +50332,7 @@ AnnotationAssertion( "UMLS:C0341706") AnnotationAssertion( "UMLS:C0543541") AnnotationAssertion( "Glycinuria") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine glycine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine glycine levels") AnnotationAssertion( "HP:0003108") AnnotationAssertion(rdfs:comment "Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours.") AnnotationAssertion(rdfs:label "Hyperglycinuria") @@ -50353,7 +50346,7 @@ AnnotationAssertion( "SNOMEDCT_US:22450000") AnnotationAssertion( "UMLS:C0268079") AnnotationAssertion( "UMLS:C0948023") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine phosphate levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine phosphate levels") AnnotationAssertion( "Phosphaturia") AnnotationAssertion( "HP:0003109") AnnotationAssertion(rdfs:label "Hyperphosphaturia") @@ -50366,8 +50359,8 @@ AnnotationAssertion(Annotation( "HP:0011865") AnnotationAssertion( "HP:0011866") AnnotationAssertion( "UMLS:C4025655") -AnnotationAssertion(Annotation( ) "Pee issues") -AnnotationAssertion(Annotation( ) "Urine issues") +AnnotationAssertion(Annotation( ) "Pee issues") +AnnotationAssertion(Annotation( ) "Urine issues") AnnotationAssertion( "HP:0003110") AnnotationAssertion(rdfs:label "Abnormality of urine homeostasis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50382,7 +50375,7 @@ AnnotationAssertion( "UMLS:C1704431") AnnotationAssertion( "UMLS:C4025654") AnnotationAssertion( "Abnormality of ion homeostasis") -AnnotationAssertion(Annotation( ) "Electrolyte disorders") +AnnotationAssertion(Annotation( ) "Electrolyte disorders") AnnotationAssertion( "Electrolyte disturbance") AnnotationAssertion( "HP:0003111") AnnotationAssertion(rdfs:label "Abnormal blood ion concentration") @@ -50394,7 +50387,7 @@ SubClassOf( ) "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.") AnnotationAssertion( "UMLS:C4025653") AnnotationAssertion( "Abnormality of serum amino acid level") -AnnotationAssertion(Annotation( ) "Abnormality of serum amino acid levels") +AnnotationAssertion(Annotation( ) "Abnormality of serum amino acid levels") AnnotationAssertion( "HP:0003112") AnnotationAssertion(rdfs:label "Abnormal circulating amino acid concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50406,7 +50399,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:10399008") AnnotationAssertion( "UMLS:C0085680") AnnotationAssertion( "UMLS:C0595901") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood chloride levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood chloride levels") AnnotationAssertion( "HP:0003113") AnnotationAssertion(rdfs:label "Hypochloremia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50424,8 +50417,8 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "Abnormal rhythm of the heart.") AnnotationAssertion( "SNOMEDCT_US:102594003") AnnotationAssertion( "UMLS:C0522055") -AnnotationAssertion(Annotation( ) "Abnormal ECG") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal EKG") +AnnotationAssertion(Annotation( ) "Abnormal ECG") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal EKG") AnnotationAssertion( "Abnormal electrocardiogram") AnnotationAssertion(Annotation( ) "EKG abnormality") AnnotationAssertion( "HP:0003115") @@ -50444,7 +50437,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Concentration of a hormone in the blood circulation outside of normal limits.") AnnotationAssertion( "UMLS:C4025652") AnnotationAssertion( "Abnormal circulating hormone level") -AnnotationAssertion(Annotation( ) "Abnormality of circulating hormone level") +AnnotationAssertion(Annotation( ) "Abnormality of circulating hormone level") AnnotationAssertion( "HP:0003117") AnnotationAssertion(rdfs:label "Abnormal circulating hormone concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50465,7 +50458,7 @@ AnnotationAssertion( "UMLS:C4025651") AnnotationAssertion( "Cushing syndrome") AnnotationAssertion(Annotation( ) "Hypercortisolism") -AnnotationAssertion(Annotation( ) "Increased circulating cortisol level") +AnnotationAssertion(Annotation( ) "Increased circulating cortisol level") AnnotationAssertion( "Increased cortisol production") AnnotationAssertion( "HP:0003118") AnnotationAssertion(rdfs:label "Increased circulating cortisol level") @@ -50495,7 +50488,7 @@ AnnotationAssertion(Annotation( "HP:0005631") AnnotationAssertion( "HP:0005839") AnnotationAssertion( "UMLS:C1969879") -AnnotationAssertion(Annotation( ) "Limb contractures") +AnnotationAssertion(Annotation( ) "Limb contractures") AnnotationAssertion( "HP:0003121") AnnotationAssertion(rdfs:label "Limb joint contracture") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50507,15 +50500,15 @@ AnnotationAssertion(Annotation( "HP:0008154") AnnotationAssertion( "HP:0008173") AnnotationAssertion( "HP:0008359") -AnnotationAssertion(Annotation( ) "High cholesterol") +AnnotationAssertion(Annotation( ) "High cholesterol") AnnotationAssertion( "MSH:D006937") AnnotationAssertion( "SNOMEDCT_US:13644009") AnnotationAssertion( "SNOMEDCT_US:166830008") AnnotationAssertion( "UMLS:C0020443") AnnotationAssertion( "UMLS:C0595929") -AnnotationAssertion(Annotation( ) "Elevated serum cholesterol") -AnnotationAssertion(Annotation( ) "Elevated total cholesterol") -AnnotationAssertion(Annotation( ) "Increased total cholesterol") +AnnotationAssertion(Annotation( ) "Elevated serum cholesterol") +AnnotationAssertion(Annotation( ) "Elevated total cholesterol") +AnnotationAssertion(Annotation( ) "Increased total cholesterol") AnnotationAssertion( "HP:0003124") AnnotationAssertion(rdfs:label "Hypercholesterolemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50549,7 +50542,7 @@ SubClassOf( ) "An abnormally decreased calcium concentration in the urine.") AnnotationAssertion( "SNOMEDCT_US:86353007") AnnotationAssertion( "UMLS:C0020599") -AnnotationAssertion(Annotation( ) Annotation( ) "Low urine calcium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low urine calcium levels") AnnotationAssertion( "HP:0003127") AnnotationAssertion(rdfs:label "Hypocalciuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50566,7 +50559,7 @@ AnnotationAssertion( "UMLS:C0001125") AnnotationAssertion( "UMLS:C0347959") AnnotationAssertion( "Hyperlacticacidemia") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Increased lactate in body") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Increased lactate in body") AnnotationAssertion( "Lactic acidemia") AnnotationAssertion( "Lacticacidemia") AnnotationAssertion( "Lacticacidosis") @@ -50594,7 +50587,7 @@ AnnotationAssertion(Annotation( "MSH:D003555") AnnotationAssertion( "SNOMEDCT_US:85020001") AnnotationAssertion( "UMLS:C0010691") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine cystine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine cystine levels") AnnotationAssertion( "HP:0003131") AnnotationAssertion(rdfs:comment "Cystine is a sulfur-containing amino acid.") AnnotationAssertion(rdfs:label "Cystinuria") @@ -50641,7 +50634,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An increased amount of nitrogen in the form of urea in the blood.") AnnotationAssertion( "UMLS:C0151539") AnnotationAssertion(Annotation( ) "Increased BUN") -AnnotationAssertion(Annotation( ) "Increased blood urea nitrogen") +AnnotationAssertion(Annotation( ) "Increased blood urea nitrogen") AnnotationAssertion( "HP:0003138") AnnotationAssertion(rdfs:label "Increased blood urea nitrogen") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50675,10 +50668,10 @@ AnnotationAssertion( "UMLS:C0020445") AnnotationAssertion( "UMLS:C0549399") AnnotationAssertion( "Hyperbetalipoproteinemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased LDL cholesterol") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased LDL cholesterol") AnnotationAssertion(Annotation( ) "Increased LDLc concentration") AnnotationAssertion( "Increased beta-lipoproteins") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased circulating LDL level") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased circulating LDL level") AnnotationAssertion( "Increased circulating low-density lipoprotein cholesterol") AnnotationAssertion( "Increased circulating low-density lipoprotein levels") AnnotationAssertion(Annotation( ) "Increased plasma LDL levels") @@ -50699,7 +50692,7 @@ SubClassOf( ) "A increased concentration of serotonin in the blood.") AnnotationAssertion( "UMLS:C0877243") -AnnotationAssertion(Annotation( ) "Increased serum serotonin") +AnnotationAssertion(Annotation( ) "Increased serum serotonin") AnnotationAssertion( "HP:0003144") AnnotationAssertion(rdfs:label "Increased serum serotonin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50720,7 +50713,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An decreased concentration of cholesterol in the blood.") AnnotationAssertion( "SNOMEDCT_US:61336008") AnnotationAssertion( "UMLS:C0151718") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased circulating cholesterol level") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased circulating cholesterol level") AnnotationAssertion( "HP:0003146") AnnotationAssertion(rdfs:label "Hypocholesterolemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50729,8 +50722,8 @@ SubClassOf( (Elevated serum acid phosphatase) AnnotationAssertion( "UMLS:C1839866") -AnnotationAssertion(Annotation( ) "Acid phosphatase elevated") -AnnotationAssertion(Annotation( ) "Elevated serum acid phosphatase") +AnnotationAssertion(Annotation( ) "Acid phosphatase elevated") +AnnotationAssertion(Annotation( ) "Elevated serum acid phosphatase") AnnotationAssertion( "HP:0003148") AnnotationAssertion(rdfs:comment "Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme.") AnnotationAssertion(rdfs:label "Elevated serum acid phosphatase") @@ -50741,7 +50734,7 @@ SubClassOf( ) "An abnormally high level of uric acid in the urine.") AnnotationAssertion( "HP:0012611") AnnotationAssertion( "UMLS:C0948643") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine uric acid level") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine uric acid level") AnnotationAssertion( "Increased urinary urate") AnnotationAssertion( "HP:0003149") AnnotationAssertion(rdfs:comment "Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.") @@ -50774,7 +50767,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "An elevated urinary concentration of cystathionine.") AnnotationAssertion( "SNOMEDCT_US:13003007") AnnotationAssertion( "UMLS:C0220993") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine cystathionine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine cystathionine levels") AnnotationAssertion( "HP:0003153") AnnotationAssertion(rdfs:comment "Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine.") AnnotationAssertion(rdfs:label "Cystathioninuria") @@ -50785,8 +50778,8 @@ SubClassOf( ) "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.") AnnotationAssertion( "UMLS:C4021740") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood corticotropin levels") -AnnotationAssertion(Annotation( ) "Increased circulating ACTH level") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood corticotropin levels") +AnnotationAssertion(Annotation( ) "Increased circulating ACTH level") AnnotationAssertion( "Increased plasma ACTH") AnnotationAssertion( "HP:0003154") AnnotationAssertion(rdfs:label "Increased circulating ACTH level") @@ -50801,13 +50794,13 @@ AnnotationAssertion( "HP:0008296") AnnotationAssertion( "UMLS:C0750857") AnnotationAssertion(Annotation( ) "Elevated ALP") -AnnotationAssertion(Annotation( ) "Elevated alkaline phosphatase") -AnnotationAssertion(Annotation( ) "Greatly elevated alkaline phosphatase") -AnnotationAssertion(Annotation( ) "High serum alkaline phosphatase") +AnnotationAssertion(Annotation( ) "Elevated alkaline phosphatase") +AnnotationAssertion(Annotation( ) "Greatly elevated alkaline phosphatase") +AnnotationAssertion(Annotation( ) "High serum alkaline phosphatase") AnnotationAssertion( "Hyperphosphatasemia") AnnotationAssertion(Annotation( ) "Hyperphosphatasia") -AnnotationAssertion(Annotation( ) "Increased alkaline phosphatase") -AnnotationAssertion(Annotation( ) "Increased serum alkaline phosphatase") +AnnotationAssertion(Annotation( ) "Increased alkaline phosphatase") +AnnotationAssertion(Annotation( ) "Increased serum alkaline phosphatase") AnnotationAssertion( "HP:0003155") AnnotationAssertion(rdfs:label "Elevated circulating alkaline phosphatase concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -50830,7 +50823,7 @@ AnnotationAssertion(Annotation( "MSH:D006959") AnnotationAssertion( "SNOMEDCT_US:367621000119107") AnnotationAssertion( "UMLS:C0020500") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine oxalate levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine oxalate levels") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:11135054") "Increased level of oxalate in urine") AnnotationAssertion( "HP:0003159") AnnotationAssertion(rdfs:label "Hyperoxaluria") @@ -50863,7 +50856,7 @@ SubClassOf( "MSH:D007003") AnnotationAssertion( "SNOMEDCT_US:6974005") AnnotationAssertion( "UMLS:C0271708") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar when fasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar when fasting") AnnotationAssertion( "HP:0003162") AnnotationAssertion(rdfs:label "Fasting hypoglycemia") SubClassOf( ) @@ -50872,7 +50865,7 @@ SubClassOf( ) "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.") AnnotationAssertion( "UMLS:C1848702") -AnnotationAssertion(Annotation( ) "Elevated urinary delta-aminolevulinic acid") +AnnotationAssertion(Annotation( ) "Elevated urinary delta-aminolevulinic acid") AnnotationAssertion( "HP:0003163") AnnotationAssertion(rdfs:comment "Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis.") AnnotationAssertion(rdfs:label "Elevated urinary delta-aminolevulinic acid") @@ -50906,7 +50899,7 @@ SubClassOf( ) "Increased concentration of taurine in the urine.") AnnotationAssertion( "UMLS:C3806447") -AnnotationAssertion(Annotation( ) "Increased urinary taurine") +AnnotationAssertion(Annotation( ) "Increased urinary taurine") AnnotationAssertion( "HP:0003166") AnnotationAssertion(rdfs:label "Increased urinary taurine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -50917,7 +50910,7 @@ SubClassOf( ) "An increased concentration of carnosine in the urine.") AnnotationAssertion( "SNOMEDCT_US:410051001") AnnotationAssertion( "UMLS:C3495558") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine carnosine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine carnosine levels") AnnotationAssertion( "HP:0003167") AnnotationAssertion(rdfs:comment "Carnosine is the N-(beta-alanyl) derivative of L-histidine.") AnnotationAssertion(rdfs:label "Carnosinuria") @@ -50937,7 +50930,7 @@ SubClassOf( ) "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.") AnnotationAssertion( "UMLS:C4021739") AnnotationAssertion( "Abnormality of the acetabulum") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the hipbone socket") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the hipbone socket") AnnotationAssertion( "Acetabular abnormality") AnnotationAssertion( "HP:0003170") AnnotationAssertion( ) @@ -50949,9 +50942,9 @@ SubClassOf( ) "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.") AnnotationAssertion( "UMLS:C4021738") -AnnotationAssertion(Annotation( ) "Abnormality of the pubic bone") -AnnotationAssertion(Annotation( ) "Abnormality of the pubic bones") -AnnotationAssertion(Annotation( ) "Abnormality of the pubis") +AnnotationAssertion(Annotation( ) "Abnormality of the pubic bone") +AnnotationAssertion(Annotation( ) "Abnormality of the pubic bones") +AnnotationAssertion(Annotation( ) "Abnormality of the pubis") AnnotationAssertion( "HP:0003172") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal pubic bone morphology") @@ -51012,7 +51005,7 @@ SubClassOf( ) "Intrapelvic bulging of the medial acetabular wall.") AnnotationAssertion( "SNOMEDCT_US:59606006") AnnotationAssertion( "UMLS:C0409495") -AnnotationAssertion(Annotation( ) "Abnormally indented hip sockets") +AnnotationAssertion(Annotation( ) "Abnormally indented hip sockets") AnnotationAssertion( "Protrusio acetabulae") AnnotationAssertion( "HP:0003179") AnnotationAssertion( ) @@ -51090,7 +51083,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:82231009") AnnotationAssertion( "UMLS:C0269269") AnnotationAssertion(Annotation( ) "Invaginated nipples") -AnnotationAssertion(Annotation( ) "Inverted nipples") +AnnotationAssertion(Annotation( ) "Inverted nipples") AnnotationAssertion( "HP:0003186") AnnotationAssertion(rdfs:label "Inverted nipples") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51102,7 +51095,7 @@ AnnotationAssertion(Annotation( "HP:0000784") AnnotationAssertion( "SNOMEDCT_US:8915006") AnnotationAssertion( "UMLS:C0266013") -AnnotationAssertion(Annotation( ) "Underdeveloped breasts") +AnnotationAssertion(Annotation( ) "Underdeveloped breasts") AnnotationAssertion( "HP:0003187") AnnotationAssertion(rdfs:label "Breast hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51114,13 +51107,13 @@ AnnotationAssertion(Annotation( "HP:0005283") AnnotationAssertion( "HP:0200142") AnnotationAssertion( "UMLS:C1839798") -AnnotationAssertion(Annotation( ) Annotation( ) "Elongated nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal height") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal length") -AnnotationAssertion(Annotation( ) "Long nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal elongation") +AnnotationAssertion(Annotation( ) Annotation( ) "Elongated nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal height") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased nasal length") +AnnotationAssertion(Annotation( ) "Long nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal elongation") AnnotationAssertion( "HP:0003189") AnnotationAssertion(rdfs:label "Long nose") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51134,7 +51127,7 @@ AnnotationAssertion( "Ala nasi, cleft") AnnotationAssertion( "Alar clefts") AnnotationAssertion(Annotation( ) "Cleft nasal alae") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nostril") AnnotationAssertion( "Notched nasal alae") AnnotationAssertion( "Nostril coloboma") AnnotationAssertion( "HP:0003191") @@ -51150,9 +51143,9 @@ AnnotationAssertion( "SNOMEDCT_US:61582004") AnnotationAssertion( "UMLS:C0847614") AnnotationAssertion( "UMLS:C2607914") -AnnotationAssertion(Annotation( ) "Hay fever") -AnnotationAssertion(Annotation( ) "Hayfever") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal allergies") +AnnotationAssertion(Annotation( ) "Hay fever") +AnnotationAssertion(Annotation( ) "Hayfever") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal allergies") AnnotationAssertion( "HP:0003193") AnnotationAssertion(rdfs:label "Allergic rhinitis") SubClassOf( ) @@ -51162,10 +51155,10 @@ SubClassOf( "Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.") AnnotationAssertion( "UMLS:C1854689") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Short bridge of nose") -AnnotationAssertion(Annotation( ) "Short nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Short bridge of nose") +AnnotationAssertion(Annotation( ) "Short nasal bridge") AnnotationAssertion( "HP:0003194") AnnotationAssertion(rdfs:label "Short nasal bridge") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51184,12 +51177,12 @@ AnnotationAssertion( "SNOMEDCT_US:249310005") AnnotationAssertion( "UMLS:C0426414") AnnotationAssertion( "UMLS:C1854114") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of nose") AnnotationAssertion( "Hypoplastic nose") AnnotationAssertion( "Nasal hypoplasia") -AnnotationAssertion(Annotation( ) "Short nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened nose") -AnnotationAssertion(Annotation( ) "Small nose") +AnnotationAssertion(Annotation( ) "Short nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened nose") +AnnotationAssertion(Annotation( ) "Small nose") AnnotationAssertion( "HP:0003196") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Note: a small nose has both decreased height and a decreased width. These should be coded separately.") @@ -51207,7 +51200,7 @@ AnnotationAssertion( "MSH:D009135") AnnotationAssertion( "SNOMEDCT_US:129565002") AnnotationAssertion( "UMLS:C0026848") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle tissue disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle tissue disease") AnnotationAssertion( "Myopathic changes") AnnotationAssertion( "HP:0003198") AnnotationAssertion(rdfs:comment "The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.") @@ -51219,7 +51212,7 @@ SubClassOf( "HP:0003732") AnnotationAssertion( "UMLS:C1837108") -AnnotationAssertion(Annotation( ) "Decreased muscle mass") +AnnotationAssertion(Annotation( ) "Decreased muscle mass") AnnotationAssertion( "HP:0003199") AnnotationAssertion(rdfs:label "Decreased muscle mass") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51248,7 +51241,7 @@ AnnotationAssertion( "SNOMEDCT_US:240131006") AnnotationAssertion( "SNOMEDCT_US:89010004") AnnotationAssertion( "UMLS:C0035410") -AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of skeletal muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of skeletal muscle") AnnotationAssertion( "HP:0003201") AnnotationAssertion(rdfs:label "Rhabdomyolysis") SubClassOf( ) @@ -51277,9 +51270,9 @@ AnnotationAssertion( "Amyotrophy involving the extremities") AnnotationAssertion( "Muscle atrophy") AnnotationAssertion( "Muscle atrophy, neurogenic") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle degeneration") AnnotationAssertion( "Muscle hypotrophy") -AnnotationAssertion(Annotation( ) "Muscle wasting") +AnnotationAssertion(Annotation( ) "Muscle wasting") AnnotationAssertion( "Muscular atrophy") AnnotationAssertion( "Neurogenic muscle atrophy") AnnotationAssertion( "Neurogenic muscle atrophy, especially in the lower limbs") @@ -51430,7 +51423,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:4696900") "An increased concentration of glutamine in the blood.") AnnotationAssertion( "UMLS:C1839533") -AnnotationAssertion(Annotation( ) "High plasma glutamine") +AnnotationAssertion(Annotation( ) "High plasma glutamine") AnnotationAssertion( "HP:0003217") AnnotationAssertion(rdfs:comment "Normal glutamine blood levels are around 550-600 micromole per liter.") AnnotationAssertion(rdfs:label "Hyperglutaminemia") @@ -51445,7 +51438,7 @@ AnnotationAssertion( "SNOMEDCT_US:124277009") AnnotationAssertion( "SNOMEDCT_US:47641009") AnnotationAssertion( "UMLS:C0268128") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine orotic acid levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine orotic acid levels") AnnotationAssertion( "Increased urinary orotic acid concentration") AnnotationAssertion(Annotation( ) "Orotic aciduria") AnnotationAssertion( "HP:0003218") @@ -51535,7 +51528,7 @@ AnnotationAssertion( "SNOMEDCT_US:286926003") AnnotationAssertion( "SNOMEDCT_US:39355002") AnnotationAssertion( "UMLS:C0020488") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood sodium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood sodium levels") AnnotationAssertion( "HP:0003228") AnnotationAssertion(rdfs:label "Hypernatremia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -51546,7 +51539,7 @@ SubClassOf( ) "An increased concentration of tyrosine in the blood.") AnnotationAssertion( "SNOMEDCT_US:56595005") AnnotationAssertion( "UMLS:C1879362") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased tyrosine in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased tyrosine in blood") AnnotationAssertion( "Tyrosinemia") AnnotationAssertion( "HP:0003231") AnnotationAssertion(rdfs:comment "Defect in fumarylacetoacetase.") @@ -51569,11 +51562,11 @@ AnnotationAssertion( "SNOMEDCT_US:190785000") AnnotationAssertion( "UMLS:C0151691") AnnotationAssertion( "UMLS:C0473527") -AnnotationAssertion(Annotation( ) "Decreased HDL cholesterol") -AnnotationAssertion(Annotation( ) "Decreased circulating high-density lipoprotein cholesterol") +AnnotationAssertion(Annotation( ) "Decreased HDL cholesterol") +AnnotationAssertion(Annotation( ) "Decreased circulating high-density lipoprotein cholesterol") AnnotationAssertion( "Decreased circulating high-density lipoprotein levels") AnnotationAssertion( "Hypoalphalipoproteinemia") -AnnotationAssertion(Annotation( ) "Low HDL-cholesterol") +AnnotationAssertion(Annotation( ) "Low HDL-cholesterol") AnnotationAssertion( "HP:0003233") AnnotationAssertion(rdfs:label "Decreased HDL cholesterol concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -51586,8 +51579,8 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:421784001") AnnotationAssertion( "UMLS:C1142132") AnnotationAssertion( "Decreased plasma carnitine") -AnnotationAssertion(Annotation( ) "Decreased plasma carnitine") -AnnotationAssertion(Annotation( ) "Carnitine deficiency") +AnnotationAssertion(Annotation( ) "Decreased plasma carnitine") +AnnotationAssertion(Annotation( ) "Carnitine deficiency") AnnotationAssertion( "HP:0003234") AnnotationAssertion(rdfs:comment "Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria.") AnnotationAssertion(rdfs:label "Decreased circulating carnitine concentration") @@ -51603,7 +51596,7 @@ AnnotationAssertion( "SNOMEDCT_US:43123004") AnnotationAssertion( "SNOMEDCT_US:57835009") AnnotationAssertion( "UMLS:C0268621") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased methionine in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased methionine in blood") AnnotationAssertion( "Methioninemia") AnnotationAssertion( "HP:0003235") AnnotationAssertion(rdfs:comment "Elevated blood methionine levels in the range of 500-2000 micromolar.") @@ -51622,19 +51615,19 @@ AnnotationAssertion( "HP:0008164") AnnotationAssertion( "UMLS:C0151576") AnnotationAssertion( "UMLS:C0241005") -AnnotationAssertion(Annotation( ) "Elevated blood creatine phosphokinase") -AnnotationAssertion(Annotation( ) "Elevated circulating creatine phosphokinase") -AnnotationAssertion(Annotation( ) "Elevated creatine kinase") -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated serum CPK") -AnnotationAssertion(Annotation( ) "Elevated serum creatine kinase") -AnnotationAssertion(Annotation( ) "Elevated serum creatine phosphokinase") -AnnotationAssertion(Annotation( ) "High serum creatine kinase") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased CPK") -AnnotationAssertion(Annotation( ) "Increased creatine kinase") -AnnotationAssertion(Annotation( ) "Increased creatine phosphokinase") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased serum CK") -AnnotationAssertion(Annotation( ) "Increased serum creatine kinase") -AnnotationAssertion(Annotation( ) "Increased serum creatine phosphokinase") +AnnotationAssertion(Annotation( ) "Elevated blood creatine phosphokinase") +AnnotationAssertion(Annotation( ) "Elevated circulating creatine phosphokinase") +AnnotationAssertion(Annotation( ) "Elevated creatine kinase") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated serum CPK") +AnnotationAssertion(Annotation( ) "Elevated serum creatine kinase") +AnnotationAssertion(Annotation( ) "Elevated serum creatine phosphokinase") +AnnotationAssertion(Annotation( ) "High serum creatine kinase") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased CPK") +AnnotationAssertion(Annotation( ) "Increased creatine kinase") +AnnotationAssertion(Annotation( ) "Increased creatine phosphokinase") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased serum CK") +AnnotationAssertion(Annotation( ) "Increased serum creatine kinase") +AnnotationAssertion(Annotation( ) "Increased serum creatine phosphokinase") AnnotationAssertion( "HP:0003236") AnnotationAssertion(rdfs:comment "'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))") AnnotationAssertion(rdfs:label "Elevated circulating creatine kinase concentration") @@ -51668,7 +51661,7 @@ AnnotationAssertion( "MSH:C562646") AnnotationAssertion( "SNOMEDCT_US:55236002") AnnotationAssertion( "UMLS:C0268412") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine phosphoethanolamine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine phosphoethanolamine levels") AnnotationAssertion( "Increased level of O-phosphoethanolamine in urine") AnnotationAssertion( "Increased urine O-phosphoethanolamine level") AnnotationAssertion( "HP:0003239") @@ -51694,7 +51687,7 @@ AnnotationAssertion( "UMLS:C1855333") AnnotationAssertion( "Hypogenitalism") AnnotationAssertion( "Small genitalia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of external reproductive organs") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of external reproductive organs") AnnotationAssertion( "HP:0003241") AnnotationAssertion(rdfs:comment "Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism.") AnnotationAssertion(rdfs:label "External genital hypoplasia") @@ -51724,7 +51717,7 @@ SubClassOf( (Overgrowth of external genitalia) AnnotationAssertion( "UMLS:C1851722") -AnnotationAssertion(Annotation( ) "Overgrowth of external genitalia") +AnnotationAssertion(Annotation( ) "Overgrowth of external genitalia") AnnotationAssertion( "HP:0003247") AnnotationAssertion(rdfs:label "Overgrowth of external genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51740,7 +51733,7 @@ SubClassOf( (Genital ulcers) AnnotationAssertion( "UMLS:C0151281") -AnnotationAssertion(Annotation( ) "Genital ulcers") +AnnotationAssertion(Annotation( ) "Genital ulcers") AnnotationAssertion( "HP:0003249") AnnotationAssertion(rdfs:label "Genital ulcers") SubClassOf( ) @@ -51755,7 +51748,7 @@ AnnotationAssertion( "UMLS:C0220763") AnnotationAssertion( "UMLS:C1321884") AnnotationAssertion( "UMLS:C1841990") -AnnotationAssertion(Annotation( ) "Absent vagina") +AnnotationAssertion(Annotation( ) "Absent vagina") AnnotationAssertion( "Congenital absence of the vagina") AnnotationAssertion( "HP:0003250") AnnotationAssertion(rdfs:label "Aplasia of the vagina") @@ -51767,7 +51760,7 @@ SubClassOf( "MSH:D007248") AnnotationAssertion( "SNOMEDCT_US:2904007") AnnotationAssertion( "UMLS:C0021364") -AnnotationAssertion(Annotation( ) "Male infertility") +AnnotationAssertion(Annotation( ) "Male infertility") AnnotationAssertion( "HP:0003251") AnnotationAssertion(rdfs:label "Male infertility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -51818,11 +51811,11 @@ AnnotationAssertion(Annotation( "HP:0003227") AnnotationAssertion( "SNOMEDCT_US:166717003") AnnotationAssertion( "UMLS:C0700225") -AnnotationAssertion(Annotation( ) "Elevated creatinine") +AnnotationAssertion(Annotation( ) "Elevated creatinine") AnnotationAssertion( "Elevated serum creatinine") -AnnotationAssertion(Annotation( ) "High blood creatinine level") -AnnotationAssertion(Annotation( ) "Increased creatinine") -AnnotationAssertion(Annotation( ) "Increased serum creatinine") +AnnotationAssertion(Annotation( ) "High blood creatinine level") +AnnotationAssertion(Annotation( ) "Increased creatinine") +AnnotationAssertion(Annotation( ) "Increased serum creatinine") AnnotationAssertion( "HP:0003259") AnnotationAssertion(rdfs:label "Elevated circulating creatinine concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -51835,7 +51828,7 @@ AnnotationAssertion(Annotation( "MSH:C562669") AnnotationAssertion( "SNOMEDCT_US:25739007") AnnotationAssertion( "UMLS:C0268531") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood hydroxyproline levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood hydroxyproline levels") AnnotationAssertion( "HP:0003260") AnnotationAssertion(rdfs:comment "Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter.") AnnotationAssertion(rdfs:label "Hydroxyprolinemia") @@ -51911,7 +51904,7 @@ SubClassOf( ) Annotation( "PMID:18901181") Annotation( "PMID:20240447") "A increased concentration of arginine in the urine.") AnnotationAssertion( "UMLS:C4025635") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine arginine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine arginine levels") AnnotationAssertion( "HP:0003268") AnnotationAssertion(rdfs:comment "Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours.") AnnotationAssertion(rdfs:label "Argininuria") @@ -51935,11 +51928,11 @@ AnnotationAssertion( "SNOMEDCT_US:41931001") AnnotationAssertion( "SNOMEDCT_US:60728008") AnnotationAssertion( "UMLS:C0000731") -AnnotationAssertion(Annotation( ) "Abdominal bloating") +AnnotationAssertion(Annotation( ) "Abdominal bloating") AnnotationAssertion( "Abdominal distension") -AnnotationAssertion(Annotation( ) "Abdominal swelling") -AnnotationAssertion(Annotation( ) "Belly bloating") -AnnotationAssertion(Annotation( ) "Bloating") +AnnotationAssertion(Annotation( ) "Abdominal swelling") +AnnotationAssertion(Annotation( ) "Belly bloating") +AnnotationAssertion(Annotation( ) "Bloating") AnnotationAssertion( "Distended abdomen") AnnotationAssertion( "HP:0003270") AnnotationAssertion( ) @@ -51963,8 +51956,8 @@ SubClassOf( ) "An abnormality of the hip bone.") AnnotationAssertion( "UMLS:C4021735") -AnnotationAssertion(Annotation( ) "Abnormality of the hip bone") -AnnotationAssertion(Annotation( ) "Abnormality of the hips") +AnnotationAssertion(Annotation( ) "Abnormality of the hip bone") +AnnotationAssertion(Annotation( ) "Abnormality of the hips") AnnotationAssertion( "HP:0003272") AnnotationAssertion(rdfs:comment "The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle.") AnnotationAssertion(rdfs:label "Abnormal hip bone morphology") @@ -52001,9 +51994,9 @@ SubClassOf( (Narrow pelvis bone) AnnotationAssertion(Annotation( ) "Reduced side to side width of the pelvis.") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow pelvis") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow pelvis") AnnotationAssertion( "UMLS:C1848103") -AnnotationAssertion(Annotation( ) "Narrow pelvis bone") +AnnotationAssertion(Annotation( ) "Narrow pelvis bone") AnnotationAssertion( "HP:0003275") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Narrow pelvis bone") @@ -52032,9 +52025,9 @@ SubClassOf( (Square pelvis bone) AnnotationAssertion(Annotation( ) "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.") -AnnotationAssertion(Annotation( ) Annotation( ) "Square pelvis") +AnnotationAssertion(Annotation( ) Annotation( ) "Square pelvis") AnnotationAssertion( "UMLS:C1849953") -AnnotationAssertion(Annotation( ) "Square pelvis bone") +AnnotationAssertion(Annotation( ) "Square pelvis bone") AnnotationAssertion( "Squared off pelvis") AnnotationAssertion( "HP:0003278") AnnotationAssertion(rdfs:label "Square pelvis bone") @@ -52058,13 +52051,13 @@ AnnotationAssertion(Annotation( "UMLS:C0241013") AnnotationAssertion( "UMLS:C0743912") AnnotationAssertion( "UMLS:C3854388") -AnnotationAssertion(Annotation( ) "Elevated serum ferritin") -AnnotationAssertion(Annotation( ) "High ferritin level") +AnnotationAssertion(Annotation( ) "Elevated serum ferritin") +AnnotationAssertion(Annotation( ) "High ferritin level") AnnotationAssertion( "Hyperferritinaemia") AnnotationAssertion( "Hyperferritinemia") -AnnotationAssertion(Annotation( ) "Increased ferritin") +AnnotationAssertion(Annotation( ) "Increased ferritin") AnnotationAssertion( "Increased plasma ferritin") -AnnotationAssertion(Annotation( ) "Increased serum ferritin level") +AnnotationAssertion(Annotation( ) "Increased serum ferritin level") AnnotationAssertion( "HP:0003281") AnnotationAssertion(rdfs:comment "Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.") AnnotationAssertion(rdfs:label "Increased circulating ferritin concentration") @@ -52076,7 +52069,7 @@ SubClassOf( ) "Abnormally reduced serum levels of alkaline phosphatase.") AnnotationAssertion( "UMLS:C1860130") -AnnotationAssertion(Annotation( ) "Decreased serum alkaline phosphatase") +AnnotationAssertion(Annotation( ) "Decreased serum alkaline phosphatase") AnnotationAssertion(Annotation( ) "Low ALP") AnnotationAssertion( "HP:0003282") AnnotationAssertion(rdfs:label "Low alkaline phosphatase") @@ -52088,7 +52081,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:16902722") "An increased concentration of cystathionine in the blood.") AnnotationAssertion( "SNOMEDCT_US:6669004") AnnotationAssertion( "UMLS:C0268618") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood cystathionine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood cystathionine levels") AnnotationAssertion( "HP:0003286") AnnotationAssertion(rdfs:comment "Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma.") AnnotationAssertion(rdfs:label "Cystathioninemia") @@ -52117,7 +52110,7 @@ SubClassOf( ) Annotation( "PMID:16932309") "A decreased concentration of leptin in the blood.") AnnotationAssertion( "UMLS:C1837802") -AnnotationAssertion(Annotation( ) "Decreased serum leptin") +AnnotationAssertion(Annotation( ) "Decreased serum leptin") AnnotationAssertion( "Reduced circulating leptin level") AnnotationAssertion( "HP:0003292") AnnotationAssertion(rdfs:comment "Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis.") @@ -52136,7 +52129,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) Annotation( "PMID:18901181") Annotation( "PMID:20240447") "An increased concentration of threonine in the urine.") AnnotationAssertion( "UMLS:C2673931") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine threonine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine threonine levels") AnnotationAssertion( "HP:0003296") AnnotationAssertion(rdfs:comment "Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours.") AnnotationAssertion(rdfs:label "Hyperthreoninuria") @@ -52148,7 +52141,7 @@ SubClassOf( ) Annotation( "PMID:18901181") Annotation( "PMID:20240447") "An increased concentration of lysine in the urine.") AnnotationAssertion( "HP:0002158") AnnotationAssertion( "UMLS:C4021733") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine lysine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine lysine levels") AnnotationAssertion( "Lysinuria") AnnotationAssertion( "HP:0003297") AnnotationAssertion(rdfs:comment "Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours.") @@ -52209,8 +52202,8 @@ AnnotationAssertion(Annotation( "MSH:D013168") AnnotationAssertion( "SNOMEDCT_US:274152003") AnnotationAssertion( "UMLS:C0038016") -AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of one backbone compared to another") -AnnotationAssertion(Annotation( ) Annotation( ) "Slipped backbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of one backbone compared to another") +AnnotationAssertion(Annotation( ) Annotation( ) "Slipped backbone") AnnotationAssertion( "Spondylolithesis") AnnotationAssertion( "HP:0003302") AnnotationAssertion(rdfs:label "Spondylolisthesis") @@ -52240,7 +52233,7 @@ SubClassOf( ) Annotation( "PMID:11601420") Annotation( "PMID:2246660") "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.") AnnotationAssertion( "UMLS:C1858025") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced spine movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced spine movement") AnnotationAssertion( "Rigid spine") AnnotationAssertion( "HP:0003306") AnnotationAssertion(rdfs:label "Spinal rigidity") @@ -52256,7 +52249,7 @@ AnnotationAssertion( "SNOMEDCT_US:61960001") AnnotationAssertion( "UMLS:C0024003") AnnotationAssertion( "Lordosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent swayback") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent swayback") AnnotationAssertion( "HP:0003307") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hyperlordosis") @@ -52329,7 +52322,7 @@ SubClassOf( ) Annotation( "PMID:31448202") Annotation( "PMID:3693103") "A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.") AnnotationAssertion( "UMLS:C1844752") AnnotationAssertion( "Anterior rachischisis") -AnnotationAssertion(Annotation( ) "Butterfly vertebrae") +AnnotationAssertion(Annotation( ) "Butterfly vertebrae") AnnotationAssertion( "Sagittal clefting of vertebrae") AnnotationAssertion( "HP:0003316") AnnotationAssertion(rdfs:label "Butterfly vertebrae") @@ -52350,7 +52343,7 @@ SubClassOf( ) "Any abnormality of the cervical vertebral column.") AnnotationAssertion( "HP:0004587") AnnotationAssertion( "UMLS:C1852464") -AnnotationAssertion(Annotation( ) "Abnormal cervical spine") +AnnotationAssertion(Annotation( ) "Abnormal cervical spine") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cervical vertebra") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the cervical vertebrae") AnnotationAssertion( "Cervical spine abnormalities") @@ -52432,8 +52425,8 @@ AnnotationAssertion( "MSH:D063806") AnnotationAssertion( "SNOMEDCT_US:68962001") AnnotationAssertion( "UMLS:C0231528") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle ache") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle ache") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle pain") AnnotationAssertion(Annotation( ) Annotation( ) "Myalgias") AnnotationAssertion( "HP:0003326") AnnotationAssertion(rdfs:label "Myalgia") @@ -52612,8 +52605,8 @@ AnnotationAssertion( "UMLS:C0268630") AnnotationAssertion( "UMLS:C1839424") AnnotationAssertion( "UMLS:C1849489") -AnnotationAssertion(Annotation( ) "Increased blood alanine") -AnnotationAssertion(Annotation( ) "Increased serum alanine") +AnnotationAssertion(Annotation( ) "Increased blood alanine") +AnnotationAssertion(Annotation( ) "Increased serum alanine") AnnotationAssertion( "HP:0003348") AnnotationAssertion(rdfs:comment "This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter.") AnnotationAssertion(rdfs:label "Hyperalaninemia") @@ -52670,7 +52663,7 @@ SubClassOf( ) "An increased concentration of threonine in the blood.") AnnotationAssertion( "UMLS:C1848861") AnnotationAssertion( "Elevated circulating threonine") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood threonine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood threonine levels") AnnotationAssertion( "HP:0003354") AnnotationAssertion(rdfs:label "Hyperthreoninemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -52685,10 +52678,10 @@ AnnotationAssertion( "SNOMEDCT_US:35912001") AnnotationAssertion( "UMLS:C0238621") AnnotationAssertion( "UMLS:C4020843") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine amino acid levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine amino acid levels") AnnotationAssertion( "Hyperaminoaciduria") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased levels of animo acids in urine") -AnnotationAssertion(Annotation( ) "Abnormal urinary amino-acid findings") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased levels of animo acids in urine") +AnnotationAssertion(Annotation( ) "Abnormal urinary amino-acid findings") AnnotationAssertion( "HP:0003355") AnnotationAssertion(rdfs:label "Aminoaciduria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -52717,7 +52710,7 @@ SubClassOf( ) "Decreased concentration of sulfate in the urine.") AnnotationAssertion( "UMLS:C1848958") -AnnotationAssertion(Annotation( ) "Decreased urinary sulfate") +AnnotationAssertion(Annotation( ) "Decreased urinary sulfate") AnnotationAssertion(Annotation( ) "Decreased urinary sulphate") AnnotationAssertion( "HP:0003359") AnnotationAssertion(rdfs:label "Decreased urinary sulfate") @@ -52729,7 +52722,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:18901181") "An increased concentration of tryptophan in the urine.") AnnotationAssertion( "SNOMEDCT_US:18789002") AnnotationAssertion( "UMLS:C0268472") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine tryptophan levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine tryptophan levels") AnnotationAssertion( "HP:0003361") AnnotationAssertion(rdfs:comment "Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours.") AnnotationAssertion(rdfs:label "Tryptophanuria") @@ -52770,7 +52763,7 @@ AnnotationAssertion( "UMLS:C0019559") AnnotationAssertion( "Coxalgia") AnnotationAssertion( "Hip arthralgia") -AnnotationAssertion(Annotation( ) Annotation( ) "Hip joint pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Hip joint pain") AnnotationAssertion( "HP:0003365") AnnotationAssertion(rdfs:label "Arthralgia of the hip") SubClassOf( ) @@ -52778,7 +52771,7 @@ SubClassOf( (Abnormal femoral neck/head morphology) AnnotationAssertion( "UMLS:C4025622") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neck or head of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neck or head of thigh bone") AnnotationAssertion( "Abnormality of the femoral neck or head region") AnnotationAssertion( "HP:0003366") AnnotationAssertion(rdfs:label "Abnormal femoral neck/head morphology") @@ -52788,7 +52781,7 @@ SubClassOf( ) "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).") AnnotationAssertion( "UMLS:C4025621") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neck of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neck of thigh bone") AnnotationAssertion( "Abnormality of the femoral neck") AnnotationAssertion( "HP:0003367") AnnotationAssertion(rdfs:label "Abnormal femoral neck morphology") @@ -52799,7 +52792,7 @@ SubClassOf( ) "An abnormality of the femoral head.") AnnotationAssertion( "UMLS:C4025620") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal head of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal head of thigh bone") AnnotationAssertion( "Abnormality of the femoral head") AnnotationAssertion( "HP:0003368") AnnotationAssertion(rdfs:label "Abnormal femoral head morphology") @@ -52812,7 +52805,7 @@ AnnotationAssertion(Annotation( "HP:0006393") AnnotationAssertion( "UMLS:C1842155") AnnotationAssertion( "Flat capital femoral epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat end part of innermost thighbone") AnnotationAssertion( "Flat femoral capital epiphyses") AnnotationAssertion( "Flat proximal femoral epiphyses") AnnotationAssertion( "Flattened proximal femoral epiphyses") @@ -52827,7 +52820,7 @@ SubClassOf( ) "An abnormal enlargement of the proximal epiphysis of the femur.") AnnotationAssertion( "UMLS:C1859697") AnnotationAssertion( "Enlarged capital femoral epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of innermost thighbone") AnnotationAssertion( "HP:0003371") AnnotationAssertion(rdfs:label "Enlargement of the proximal femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -52864,7 +52857,7 @@ AnnotationAssertion(Annotation( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:27253007") AnnotationAssertion( "UMLS:C0427149") -AnnotationAssertion(Annotation( ) Annotation( ) "High stepping") +AnnotationAssertion(Annotation( ) Annotation( ) "High stepping") AnnotationAssertion( "HP:0003376") AnnotationAssertion(rdfs:label "Steppage gait") SubClassOf( ) @@ -52954,7 +52947,7 @@ SubClassOf( (Easy fatigability) AnnotationAssertion(Annotation( ) "Increased susceptibility to fatigue.") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Tired easily") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Tired easily") AnnotationAssertion( "SNOMEDCT_US:248268002") AnnotationAssertion( "UMLS:C0424585") AnnotationAssertion( "UMLS:C1837098") @@ -53032,7 +53025,7 @@ AnnotationAssertion( "MSH:D013595") AnnotationAssertion( "SNOMEDCT_US:111496009") AnnotationAssertion( "UMLS:C0039144") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid-filled cyst in spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid-filled cyst in spinal cord") AnnotationAssertion( "Syrinx") AnnotationAssertion( "HP:0003396") AnnotationAssertion(rdfs:label "Syringomyelia") @@ -53076,8 +53069,8 @@ AnnotationAssertion( "SNOMEDCT_US:91019004") AnnotationAssertion( "UMLS:C0030554") AnnotationAssertion( "Paresthesias") -AnnotationAssertion(Annotation( ) "Pins and needles feeling") -AnnotationAssertion(Annotation( ) "Tingling") +AnnotationAssertion(Annotation( ) "Pins and needles feeling") +AnnotationAssertion(Annotation( ) "Tingling") AnnotationAssertion( "HP:0003401") AnnotationAssertion(rdfs:label "Paresthesia") SubClassOf( ) @@ -53172,7 +53165,7 @@ SubClassOf( ) "An abnormal narrowing of the spinal canal.") AnnotationAssertion( "HP:0008446") AnnotationAssertion( "UMLS:C1861329") -AnnotationAssertion(Annotation( ) "Narrow spinal canal") +AnnotationAssertion(Annotation( ) "Narrow spinal canal") AnnotationAssertion( "Spinal stenosis") AnnotationAssertion( "HP:0003416") AnnotationAssertion( ) @@ -53201,7 +53194,7 @@ AnnotationAssertion( "MSH:D001416") AnnotationAssertion( "SNOMEDCT_US:161891005") AnnotationAssertion( "UMLS:C0004604") -AnnotationAssertion(Annotation( ) "Back pain") +AnnotationAssertion(Annotation( ) "Back pain") AnnotationAssertion( "HP:0003418") AnnotationAssertion(rdfs:label "Back pain") SubClassOf( ) @@ -53214,7 +53207,7 @@ AnnotationAssertion( "SNOMEDCT_US:279039007") AnnotationAssertion( "UMLS:C0024031") AnnotationAssertion( "Lower back pain") -AnnotationAssertion(Annotation( ) "Lumbago") +AnnotationAssertion(Annotation( ) "Lumbago") AnnotationAssertion( "HP:0003419") AnnotationAssertion(rdfs:label "Low back pain") SubClassOf( ) @@ -53330,7 +53323,7 @@ AnnotationAssertion( "MSH:D012021") AnnotationAssertion( "SNOMEDCT_US:274818004") AnnotationAssertion( "UMLS:C0558845") -AnnotationAssertion(Annotation( ) "Absent ankle reflexes") +AnnotationAssertion(Annotation( ) "Absent ankle reflexes") AnnotationAssertion( "HP:0003438") AnnotationAssertion(rdfs:label "Absent Achilles reflex") SubClassOf( ) @@ -53622,8 +53615,8 @@ AnnotationAssertion(Annotation( "MSH:D010243") AnnotationAssertion( "SNOMEDCT_US:44695005") AnnotationAssertion( "UMLS:C0522224") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to move") -AnnotationAssertion(Annotation( ) "Paralysis") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to move") +AnnotationAssertion(Annotation( ) "Paralysis") AnnotationAssertion( "HP:0003470") AnnotationAssertion(rdfs:label "Paralysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -53717,8 +53710,8 @@ SubClassOf( ) "Weakness of the muscles of the arms.") AnnotationAssertion( "SNOMEDCT_US:713512009") AnnotationAssertion( "UMLS:C1698196") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased arm strength") -AnnotationAssertion(Annotation( ) Annotation( ) "Weak arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased arm strength") +AnnotationAssertion(Annotation( ) Annotation( ) "Weak arm") AnnotationAssertion( "HP:0003484") AnnotationAssertion(rdfs:label "Upper limb muscle weakness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -53871,11 +53864,11 @@ AnnotationAssertion( "SNOMEDCT_US:237837007") AnnotationAssertion( "SNOMEDCT_US:422065006") AnnotationAssertion( "UMLS:C0013336") -AnnotationAssertion(Annotation( ) "Dwarfism") -AnnotationAssertion(Annotation( ) "Proportionate dwarfism") -AnnotationAssertion(Annotation( ) "Severe short stature") +AnnotationAssertion(Annotation( ) "Dwarfism") +AnnotationAssertion(Annotation( ) "Proportionate dwarfism") +AnnotationAssertion(Annotation( ) "Severe short stature") AnnotationAssertion(Annotation( ) "Short stature, extreme") -AnnotationAssertion(Annotation( ) Annotation( ) "Short stature, severe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short stature, severe") AnnotationAssertion( "HP:0003510") AnnotationAssertion(rdfs:comment "The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).") AnnotationAssertion(rdfs:label "Severe short stature") @@ -53886,7 +53879,7 @@ SubClassOf( ) "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.") AnnotationAssertion( "UMLS:C4025605") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced ration of kidney calcium clearance to creatinine clearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced ration of kidney calcium clearance to creatinine clearance") AnnotationAssertion(Annotation( ) Annotation( ) "Reduced ration of renal Ca clearance to creatinine clearance") AnnotationAssertion(Annotation( ) Annotation( ) "Reduced ration of renal Ca2+ to creatinine clearance") AnnotationAssertion( "HP:0003513") @@ -53917,9 +53910,9 @@ AnnotationAssertion( "HP:0003500") AnnotationAssertion( "HP:0008923") AnnotationAssertion( "UMLS:C1846435") -AnnotationAssertion(Annotation( ) "Disproportionate short-trunked dwarfism") -AnnotationAssertion(Annotation( ) "Disproportionate short-trunked short stature") -AnnotationAssertion(Annotation( ) "Short-trunked dwarfism") +AnnotationAssertion(Annotation( ) "Disproportionate short-trunked dwarfism") +AnnotationAssertion(Annotation( ) "Disproportionate short-trunked short stature") +AnnotationAssertion(Annotation( ) "Short-trunked dwarfism") AnnotationAssertion( "HP:0003521") AnnotationAssertion(rdfs:label "Disproportionate short-trunk short stature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -53952,7 +53945,7 @@ SubClassOf( ) "An increased concentration of prostaglandin in the urine.") AnnotationAssertion( "UMLS:C1866498") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine prostaglandin levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine prostaglandin levels") AnnotationAssertion( "HP:0003527") AnnotationAssertion(rdfs:label "Hyperprostaglandinuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -53962,7 +53955,7 @@ SubClassOf( "Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.") AnnotationAssertion( "UMLS:C1868394") -AnnotationAssertion(Annotation( ) "Elevated calcitonin") +AnnotationAssertion(Annotation( ) "Elevated calcitonin") AnnotationAssertion( "HP:0003528") AnnotationAssertion(rdfs:comment "Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone.") AnnotationAssertion(rdfs:label "Elevated circulating calcitonin concentration") @@ -54054,7 +54047,7 @@ SubClassOf( ) "An abnormally low level of uric acid in the blood.") AnnotationAssertion( "SNOMEDCT_US:4519003") AnnotationAssertion( "UMLS:C0221333") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood uric acid levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood uric acid levels") AnnotationAssertion( "HP:0003537") AnnotationAssertion(rdfs:label "Hypouricemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -54112,8 +54105,8 @@ SubClassOf( "PMID:10617757") "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.") AnnotationAssertion( "SNOMEDCT_US:267044007") AnnotationAssertion( "UMLS:C0424551") -AnnotationAssertion(Annotation( ) Annotation( "PMID:10617757") Annotation( ) "Decreased ability to exercise") -AnnotationAssertion(Annotation( ) Annotation( "PMID:10617757") Annotation( ) "Inability to exercise") +AnnotationAssertion(Annotation( ) Annotation( "PMID:10617757") Annotation( ) "Decreased ability to exercise") +AnnotationAssertion(Annotation( ) Annotation( "PMID:10617757") Annotation( ) "Inability to exercise") AnnotationAssertion( "Low exercise endurance") AnnotationAssertion( "Poor exercise tolerance") AnnotationAssertion( "HP:0003546") @@ -54131,7 +54124,7 @@ AnnotationAssertion( "Muscle weakness, shoulder-girdle") AnnotationAssertion( "Shoulder girdle weakness") AnnotationAssertion( "Shoulder weakness") -AnnotationAssertion(Annotation( ) Annotation( ) "Weak shoulder muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Weak shoulder muscles") AnnotationAssertion( "HP:0003547") AnnotationAssertion(rdfs:label "Shoulder girdle muscle weakness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -54170,7 +54163,7 @@ AnnotationAssertion(Annotation( "HP:0007019") AnnotationAssertion( "SNOMEDCT_US:282195009") AnnotationAssertion( "UMLS:C0239067") -AnnotationAssertion(Annotation( ) "Difficulty walking up stairs") +AnnotationAssertion(Annotation( ) "Difficulty walking up stairs") AnnotationAssertion( "HP:0003551") AnnotationAssertion(rdfs:label "Difficulty climbing stairs") SubClassOf( ) @@ -54320,7 +54313,7 @@ AnnotationAssertion( "UMLS:C0151632") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated ESR") AnnotationAssertion( "Elevated sedimentation rate") -AnnotationAssertion(Annotation( ) Annotation( ) "High ESR") +AnnotationAssertion(Annotation( ) Annotation( ) "High ESR") AnnotationAssertion( "High erythrocyte sedimentation rate") AnnotationAssertion( "Increased erythrocyte sedimentation rate") AnnotationAssertion( "Raised erythrocyte sedimentation rate") @@ -54392,7 +54385,7 @@ AnnotationAssertion(Annotation( "HP:0008168") AnnotationAssertion( "SNOMEDCT_US:176271000119108") AnnotationAssertion( "UMLS:C0741494") -AnnotationAssertion(Annotation( ) "High bili total") +AnnotationAssertion(Annotation( ) "High bili total") AnnotationAssertion( "Increased bilirubin") AnnotationAssertion( "HP:0003573") AnnotationAssertion(rdfs:label "Increased total bilirubin") @@ -54429,7 +54422,7 @@ AnnotationAssertion( "UMLS:C1836142") AnnotationAssertion( "UMLS:C2752013") AnnotationAssertion( "Onset at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Symptoms present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Symptoms present at birth") AnnotationAssertion( "HP:0003577") AnnotationAssertion(rdfs:comment "Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674).") AnnotationAssertion(rdfs:label "Congenital onset") @@ -54446,7 +54439,7 @@ AnnotationAssertion( "UMLS:C1853562") AnnotationAssertion( "Onset in adulthood") AnnotationAssertion( "Onset in early adulthood") -AnnotationAssertion(Annotation( ) Annotation( ) "Symptoms begin in adulthood") +AnnotationAssertion(Annotation( ) Annotation( ) "Symptoms begin in adulthood") AnnotationAssertion( "HP:0003581") AnnotationAssertion(rdfs:label "Adult onset") EquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) @@ -54468,7 +54461,7 @@ AnnotationAssertion( "SNOMEDCT_US:61751001") AnnotationAssertion( "UMLS:C0332164") AnnotationAssertion( "UMLS:C1298634") -AnnotationAssertion(Annotation( ) "Gradual onset") +AnnotationAssertion(Annotation( ) "Gradual onset") AnnotationAssertion( "HP:0003587") AnnotationAssertion(rdfs:label "Insidious onset") SubClassOf( ) @@ -54488,9 +54481,9 @@ AnnotationAssertion( "HP:0003672") AnnotationAssertion( "HP:0010573") AnnotationAssertion( "UMLS:C1848924") -AnnotationAssertion(Annotation( ) "Infantile onset") -AnnotationAssertion(Annotation( ) "Onset in first year of life") -AnnotationAssertion(Annotation( ) "Onset in infancy") +AnnotationAssertion(Annotation( ) "Infantile onset") +AnnotationAssertion(Annotation( ) "Onset in first year of life") +AnnotationAssertion(Annotation( ) "Onset in infancy") AnnotationAssertion( "HP:0003593") AnnotationAssertion(rdfs:comment "Onset of signs or symptoms of disease within the first 12 months of life.") AnnotationAssertion(rdfs:label "Infantile onset") @@ -54575,7 +54568,7 @@ AnnotationAssertion(Annotation( "MSH:C536561") AnnotationAssertion( "SNOMEDCT_US:237959005") AnnotationAssertion( "UMLS:C0342739") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine trimethylamine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine trimethylamine levels") AnnotationAssertion( "HP:0003614") AnnotationAssertion(rdfs:comment "Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide.") AnnotationAssertion(rdfs:label "Trimethylaminuria") @@ -54606,7 +54599,7 @@ AnnotationAssertion( "HP:0003661") AnnotationAssertion( "HP:0003670") AnnotationAssertion( "UMLS:C4025588") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Signs and symptoms begin before 15 years of age") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Signs and symptoms begin before 15 years of age") AnnotationAssertion( "HP:0003621") AnnotationAssertion(rdfs:label "Juvenile onset") SubClassOf( ) @@ -54616,7 +54609,7 @@ SubClassOf( ) "Onset of signs or symptoms of disease within the first 28 days of life.") AnnotationAssertion( "HP:0003622") AnnotationAssertion( "UMLS:C1855106") -AnnotationAssertion(Annotation( ) "Neonatal onset") +AnnotationAssertion(Annotation( ) "Neonatal onset") AnnotationAssertion( "Onset in first weeks of life") AnnotationAssertion( "Onset in neonatal period") AnnotationAssertion( "HP:0003623") @@ -54630,7 +54623,7 @@ AnnotationAssertion(Annotation( "HP:0008990") AnnotationAssertion( "SNOMEDCT_US:205532005") AnnotationAssertion( "UMLS:C0432185") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent muscles since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent muscles since birth") AnnotationAssertion( "Congenital absence of muscles") AnnotationAssertion( "HP:0003634") AnnotationAssertion(rdfs:label "Amyoplasia") @@ -54642,7 +54635,7 @@ SubClassOf( ) "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.") AnnotationAssertion( "HP:0003757") AnnotationAssertion( "UMLS:C1837764") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue below the skin in limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue below the skin in limbs") AnnotationAssertion( "Loss of subcutaneous adipose tissue from extremities") AnnotationAssertion( "HP:0003635") AnnotationAssertion( ) @@ -54686,7 +54679,7 @@ AnnotationAssertion( "SNOMEDCT_US:68600005") AnnotationAssertion( "UMLS:C0019048") AnnotationAssertion(Annotation( ) "Haemoglobin in urine") -AnnotationAssertion(Annotation( ) Annotation( ) "Hemoglobin in urine") +AnnotationAssertion(Annotation( ) Annotation( ) "Hemoglobin in urine") AnnotationAssertion( "HP:0003641") AnnotationAssertion(rdfs:comment "If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine.") AnnotationAssertion(rdfs:label "Hemoglobinuria") @@ -54754,7 +54747,7 @@ SubClassOf( ) "An increased concentration of lactic acid in the urine.") AnnotationAssertion( "UMLS:C4025585") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine lactic acid levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine lactic acid levels") AnnotationAssertion( "Increased urine lactate") AnnotationAssertion( "HP:0003648") AnnotationAssertion(rdfs:label "Lacticaciduria") @@ -54860,8 +54853,8 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "A decreased concentration of methionine in the blood.") AnnotationAssertion( "UMLS:C1848555") -AnnotationAssertion(Annotation( ) "Decreased plasma methionine") -AnnotationAssertion(Annotation( ) "Decreased serum methionine") +AnnotationAssertion(Annotation( ) "Decreased plasma methionine") +AnnotationAssertion(Annotation( ) "Decreased serum methionine") AnnotationAssertion( "HP:0003658") AnnotationAssertion(rdfs:comment "Normal methionine blood levels are around 30 micromole per liter.") AnnotationAssertion(rdfs:label "Hypomethioninemia") @@ -54898,7 +54891,7 @@ AnnotationAssertion( "MSH:D017668") AnnotationAssertion( "UMLS:C0206132") AnnotationAssertion( "Age of onset") -AnnotationAssertion(Annotation( ) Annotation( ) "Age symptoms begin") +AnnotationAssertion(Annotation( ) Annotation( ) "Age symptoms begin") AnnotationAssertion( "HP:0003674") AnnotationAssertion(rdfs:comment "Adolescent is defined by WHO as a person between 10-19 years of age.") AnnotationAssertion(rdfs:label "Onset") @@ -54911,7 +54904,7 @@ AnnotationAssertion( "SNOMEDCT_US:255314001") AnnotationAssertion( "UMLS:C0205329") AnnotationAssertion( "UMLS:C1864985") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Worsens with time") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Worsens with time") AnnotationAssertion( "Progressive disorder") AnnotationAssertion( "HP:0003676") AnnotationAssertion(rdfs:label "Progressive") @@ -54923,7 +54916,7 @@ AnnotationAssertion( "HP:0003675") AnnotationAssertion( "HP:0003681") AnnotationAssertion( "UMLS:C1854494") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Signs and symptoms worsen slowly with time") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Signs and symptoms worsen slowly with time") AnnotationAssertion( "Slow disease progression") AnnotationAssertion( "Slow progression") AnnotationAssertion( "Slowly progressive disorder") @@ -54937,7 +54930,7 @@ AnnotationAssertion( "UMLS:C1838681") AnnotationAssertion( "UMLS:C1850776") AnnotationAssertion( "Rapid progression") -AnnotationAssertion(Annotation( ) Annotation( ) "Worsening quickly") +AnnotationAssertion(Annotation( ) Annotation( ) "Worsening quickly") AnnotationAssertion(Annotation( ) "Rapidly progressive disorder") AnnotationAssertion( "HP:0003678") AnnotationAssertion(rdfs:label "Rapidly progressive") @@ -54956,7 +54949,7 @@ AnnotationAssertion( "HP:0003685") AnnotationAssertion( "SNOMEDCT_US:702322003") AnnotationAssertion( "UMLS:C3839460") -AnnotationAssertion(Annotation( ) Annotation( ) "Does not worsen") +AnnotationAssertion(Annotation( ) Annotation( ) "Does not worsen") AnnotationAssertion( "Non-progressive") AnnotationAssertion( "Nonprogressive course") AnnotationAssertion( "Nonprogressive disorder") @@ -55027,8 +55020,8 @@ AnnotationAssertion(Annotation( "HP:0002534") AnnotationAssertion( "SNOMEDCT_US:713514005") AnnotationAssertion( "UMLS:C0587246") -AnnotationAssertion(Annotation( ) "Limb muscle weakness") -AnnotationAssertion(Annotation( ) "Limb weakness") +AnnotationAssertion(Annotation( ) "Limb muscle weakness") +AnnotationAssertion(Annotation( ) "Limb weakness") AnnotationAssertion( "HP:0003690") AnnotationAssertion(rdfs:label "Limb muscle weakness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55046,7 +55039,7 @@ AnnotationAssertion( "Scapula alata") AnnotationAssertion( "Winged scapulae") AnnotationAssertion( "Winged scapulas") -AnnotationAssertion(Annotation( ) Annotation( ) "Winged shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Winged shoulder blade") AnnotationAssertion( "Scapular weakness") AnnotationAssertion( "HP:0003691") AnnotationAssertion( ) @@ -55076,7 +55069,7 @@ AnnotationAssertion( "Distal muscle atrophy") AnnotationAssertion( "Distal muscle atrophy, upper and lower limbs") AnnotationAssertion(Annotation( ) "Distal muscle degeneration") -AnnotationAssertion(Annotation( ) "Distal muscle wasting") +AnnotationAssertion(Annotation( ) "Distal muscle wasting") AnnotationAssertion( "Distal muscular atrophy") AnnotationAssertion( "Muscle atrophy, distal") AnnotationAssertion( "HP:0003693") @@ -55098,9 +55091,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T01:37:43Z") AnnotationAssertion( "UMLS:C4025577") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinky finger") AnnotationAssertion( "HP:0003696") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -55123,7 +55116,7 @@ SubClassOf( "SNOMEDCT_US:249902000") AnnotationAssertion( "UMLS:C0241237") -AnnotationAssertion(Annotation( ) "Difficulty in standing") +AnnotationAssertion(Annotation( ) "Difficulty in standing") AnnotationAssertion( "Standing instability") AnnotationAssertion( "HP:0003698") AnnotationAssertion(rdfs:label "Difficulty standing") @@ -55143,15 +55136,15 @@ AnnotationAssertion( "Diffuse amyotrophy") AnnotationAssertion( "Diffuse muscle atrophy") AnnotationAssertion( "Diffuse muscle wasting") -AnnotationAssertion(Annotation( ) "Diffuse skeletal muscle wasting") +AnnotationAssertion(Annotation( ) "Diffuse skeletal muscle wasting") AnnotationAssertion(Annotation( ) "Generalised amyotrophy") AnnotationAssertion(Annotation( ) "Generalised muscle atrophy") AnnotationAssertion(Annotation( ) "Generalised muscle degeneration") AnnotationAssertion( "Generalized muscle atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized muscle degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized muscle degeneration") AnnotationAssertion( "Muscle atrophy, diffuse") AnnotationAssertion(Annotation( ) "Muscle atrophy, generalised") -AnnotationAssertion(Annotation( ) "Muscle atrophy, generalized") +AnnotationAssertion(Annotation( ) "Muscle atrophy, generalized") AnnotationAssertion(Annotation( ) "Muscular atrophy, generalised") AnnotationAssertion( "Muscular atrophy, generalized") AnnotationAssertion( "HP:0003700") @@ -55176,8 +55169,8 @@ AnnotationAssertion( "Muscle weakness, proximal") AnnotationAssertion( "Proximal limb muscle weakness") AnnotationAssertion( "Proximal limb weakness") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Weakness in muscles of upper arms and upper legs") -AnnotationAssertion(Annotation( ) "Proximal neurogenic muscle weakness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Weakness in muscles of upper arms and upper legs") +AnnotationAssertion(Annotation( ) "Proximal neurogenic muscle weakness") AnnotationAssertion( "HP:0003701") AnnotationAssertion(rdfs:comment "Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.") AnnotationAssertion(rdfs:label "Proximal muscle weakness") @@ -55207,12 +55200,12 @@ AnnotationAssertion(Annotation( "HP:0008983") AnnotationAssertion( "HP:0009000") AnnotationAssertion( "UMLS:C1855578") -AnnotationAssertion(Annotation( ) "Exercise-induced muscle cramping") -AnnotationAssertion(Annotation( ) "Exercise-induced muscle cramps") -AnnotationAssertion(Annotation( ) "Muscle cramps following exercise") -AnnotationAssertion(Annotation( ) "Muscle cramps on exercise") -AnnotationAssertion(Annotation( ) "Muscle cramps on exertion") -AnnotationAssertion(Annotation( ) "Muscle cramps with exertion") +AnnotationAssertion(Annotation( ) "Exercise-induced muscle cramping") +AnnotationAssertion(Annotation( ) "Exercise-induced muscle cramps") +AnnotationAssertion(Annotation( ) "Muscle cramps following exercise") +AnnotationAssertion(Annotation( ) "Muscle cramps on exercise") +AnnotationAssertion(Annotation( ) "Muscle cramps on exertion") +AnnotationAssertion(Annotation( ) "Muscle cramps with exertion") AnnotationAssertion( "HP:0003710") AnnotationAssertion(rdfs:label "Exercise-induced muscle cramps") SubClassOf( ) @@ -55223,7 +55216,7 @@ AnnotationAssertion(Annotation( "HP:0009042") AnnotationAssertion( "UMLS:C2265792") AnnotationAssertion( "Hypertrophic muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased skeletal muscle cells") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased skeletal muscle cells") AnnotationAssertion( "Muscle hypertrophy") AnnotationAssertion( "Muscular hypertrophy") AnnotationAssertion( "HP:0003712") @@ -55267,7 +55260,7 @@ SubClassOf( (Minimal subcutaneous fat) AnnotationAssertion( "UMLS:C1859442") -AnnotationAssertion(Annotation( ) Annotation( ) "Minimal fat below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Minimal fat below the skin") AnnotationAssertion( "HP:0003717") AnnotationAssertion(rdfs:label "Minimal subcutaneous fat") SubClassOf( ) @@ -55287,7 +55280,7 @@ AnnotationAssertion(Annotation( "UMLS:C3805639") AnnotationAssertion(Annotation( ) "Generalised increase in muscle cell size") AnnotationAssertion(Annotation( ) "Generalised muscle hypertrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized increase in muscle cell size") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized increase in muscle cell size") AnnotationAssertion( "HP:0003720") AnnotationAssertion(rdfs:label "Generalized muscle hypertrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55298,7 +55291,7 @@ SubClassOf( ) "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).") AnnotationAssertion( "HP:0000469") AnnotationAssertion( "UMLS:C1843637") -AnnotationAssertion(Annotation( ) "Neck flexion weakness") +AnnotationAssertion(Annotation( ) "Neck flexion weakness") AnnotationAssertion( "Neck flexor muscle weakness") AnnotationAssertion( "HP:0003722") AnnotationAssertion(rdfs:label "Neck flexor weakness") @@ -55310,8 +55303,8 @@ SubClassOf( ) "Amyotrophy affecting the muscles of the shoulder girdle.") AnnotationAssertion( "UMLS:C1847766") AnnotationAssertion( "Shoulder girdle atrophy") -AnnotationAssertion(Annotation( ) "Shoulder girdle muscle wasting") -AnnotationAssertion(Annotation( ) "Shoulder-girdle muscle atrophy") +AnnotationAssertion(Annotation( ) "Shoulder girdle muscle wasting") +AnnotationAssertion(Annotation( ) "Shoulder-girdle muscle atrophy") AnnotationAssertion( "HP:0003724") AnnotationAssertion(rdfs:label "Shoulder girdle muscle atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55348,7 +55341,7 @@ SubClassOf( ) "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).") AnnotationAssertion( "SNOMEDCT_US:300948004") AnnotationAssertion( "UMLS:C0577655") -AnnotationAssertion(Annotation( ) "Quadriceps weakness") +AnnotationAssertion(Annotation( ) "Quadriceps weakness") AnnotationAssertion( "HP:0003731") AnnotationAssertion(rdfs:label "Quadriceps muscle weakness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55358,7 +55351,7 @@ SubClassOf( ) "Muscle hypertrophy affecting the thighs.") AnnotationAssertion( "UMLS:C1846674") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased thigh size") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased thigh size") AnnotationAssertion( "HP:0003733") AnnotationAssertion(rdfs:comment "Proximal lower limb hypertrophy") AnnotationAssertion(rdfs:label "Thigh hypertrophy") @@ -55390,10 +55383,10 @@ SubClassOf( ) "The occurrence of an unusually high amount of muscle pain following exercise.") AnnotationAssertion( "UMLS:C1850830") -AnnotationAssertion(Annotation( ) "Exercise-induced muscle pain") -AnnotationAssertion(Annotation( ) "Muscle pain on exercise") -AnnotationAssertion(Annotation( ) "Muscle pain with exercise") -AnnotationAssertion(Annotation( ) "Muscle pain, exercise-induced") +AnnotationAssertion(Annotation( ) "Exercise-induced muscle pain") +AnnotationAssertion(Annotation( ) "Muscle pain on exercise") +AnnotationAssertion(Annotation( ) "Muscle pain with exercise") +AnnotationAssertion(Annotation( ) "Muscle pain, exercise-induced") AnnotationAssertion( "HP:0003738") AnnotationAssertion(rdfs:label "Exercise-induced myalgia") SubClassOf( ) @@ -55453,7 +55446,7 @@ AnnotationAssertion( "HP:0003769") AnnotationAssertion( "UMLS:C1853237") AnnotationAssertion( "Isolated cases") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "No previous family history") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "No previous family history") AnnotationAssertion( "HP:0003745") AnnotationAssertion(rdfs:label "Sporadic") SubClassOf( ) @@ -55525,7 +55518,7 @@ AnnotationAssertion( "UMLS:C1857657") AnnotationAssertion( "Decreased subcutaneous adipose tissue") AnnotationAssertion( "Decreased subcutaneous fat") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced fat tissue below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced fat tissue below the skin") AnnotationAssertion( "Reduced subcutaneous fat") AnnotationAssertion( "Scanty adipose tissue") AnnotationAssertion( "HP:0003758") @@ -55538,7 +55531,7 @@ SubClassOf( ) "Congenital underdevelopment of lymph vessels.") AnnotationAssertion( "UMLS:C4025570") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lymphatic vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lymphatic vessels") AnnotationAssertion( "HP:0003759") AnnotationAssertion(rdfs:comment "This feature can be demonstrated by lymphography.") AnnotationAssertion(rdfs:label "Hypoplasia of lymphatic vessels") @@ -55559,7 +55552,7 @@ AnnotationAssertion(Annotation( "MSH:D002114") AnnotationAssertion( "SNOMEDCT_US:6595006") AnnotationAssertion( "UMLS:C0006663") -AnnotationAssertion(Annotation( ) Annotation( ) "Calcium buildup in soft tissues of body") +AnnotationAssertion(Annotation( ) Annotation( ) "Calcium buildup in soft tissues of body") AnnotationAssertion( "HP:0003761") AnnotationAssertion(rdfs:label "Calcinosis") SubClassOf( ) @@ -55571,7 +55564,7 @@ AnnotationAssertion( "SNOMEDCT_US:22504001") AnnotationAssertion( "UMLS:C0152240") AnnotationAssertion( "UMLS:C0266393") -AnnotationAssertion(Annotation( ) "Double uterus") +AnnotationAssertion(Annotation( ) "Double uterus") AnnotationAssertion( "HP:0003762") AnnotationAssertion(rdfs:label "Uterus didelphys") SubClassOf( ) @@ -55588,7 +55581,7 @@ AnnotationAssertion( "SNOMEDCT_US:191983006") AnnotationAssertion( "SNOMEDCT_US:90207007") AnnotationAssertion( "UMLS:C0006325") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Teeth grinding") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Teeth grinding") AnnotationAssertion( "HP:0003763") AnnotationAssertion(rdfs:label "Bruxism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55604,7 +55597,7 @@ AnnotationAssertion( "SNOMEDCT_US:51697005") AnnotationAssertion( "UMLS:C0027960") AnnotationAssertion( "UMLS:C0027962") -AnnotationAssertion(Annotation( ) Annotation( ) "Mole") +AnnotationAssertion(Annotation( ) Annotation( ) "Mole") AnnotationAssertion( "Naevus") AnnotationAssertion( "Naevi") AnnotationAssertion( "Nevi") @@ -55646,7 +55639,7 @@ AnnotationAssertion( "UMLS:C4280546") AnnotationAssertion(Annotation( ) "Pulp calcifications") AnnotationAssertion(Annotation( ) "Pulp denticles") -AnnotationAssertion(Annotation( ) "Pulp stones") +AnnotationAssertion(Annotation( ) "Pulp stones") AnnotationAssertion( "Pulpoliths") AnnotationAssertion(Annotation( ) "False denticles") AnnotationAssertion(Annotation( ) "False pulp stones") @@ -55672,8 +55665,8 @@ AnnotationAssertion( "End stage renal failure") AnnotationAssertion( "End-stage renal disease") AnnotationAssertion(Annotation( ) "End-stage renal failure") -AnnotationAssertion(Annotation( ) "Stage 5 chronic kidney disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Renal failure, endstage") +AnnotationAssertion(Annotation( ) "Stage 5 chronic kidney disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Renal failure, endstage") AnnotationAssertion( "HP:0003774") AnnotationAssertion(rdfs:comment "Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease.") AnnotationAssertion(rdfs:label "Stage 5 chronic kidney disease") @@ -55685,7 +55678,7 @@ AnnotationAssertion(Annotation( "MSH:C562485") AnnotationAssertion( "SNOMEDCT_US:17170005") AnnotationAssertion( "UMLS:C0263491") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened and twisted hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened and twisted hair") AnnotationAssertion( "HP:0003777") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pili torti") @@ -55726,12 +55719,12 @@ AnnotationAssertion( "UMLS:C0013132") AnnotationAssertion( "UMLS:C0037036") AnnotationAssertion( "Excessive production of saliva") -AnnotationAssertion(Annotation( ) "Excessive salivation") +AnnotationAssertion(Annotation( ) "Excessive salivation") AnnotationAssertion( "Hypersalivation") -AnnotationAssertion(Annotation( ) "Mouth watering") -AnnotationAssertion(Annotation( ) Annotation( ) "Oversalivation") +AnnotationAssertion(Annotation( ) "Mouth watering") +AnnotationAssertion(Annotation( ) Annotation( ) "Oversalivation") AnnotationAssertion( "Ptyalism") -AnnotationAssertion(Annotation( ) "Watery mouth") +AnnotationAssertion(Annotation( ) "Watery mouth") AnnotationAssertion( "HP:0003781") AnnotationAssertion(rdfs:label "Excessive salivation") SubClassOf( ) @@ -55796,7 +55789,7 @@ SubClassOf( ) "Developmental hypoplasia (shortening) of middle phalanx of toe.") AnnotationAssertion( "UMLS:C4021723") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bones (feet)") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bones (feet)") AnnotationAssertion( "Short middle phalanges of toes") AnnotationAssertion( "HP:0003795") AnnotationAssertion(rdfs:label "Short middle phalanx of toe") @@ -55819,7 +55812,7 @@ AnnotationAssertion(Annotation( "Limb-girdle myopathy") AnnotationAssertion( "UMLS:C1404521") AnnotationAssertion( "UMLS:C1842552") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of limb-girdle muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of limb-girdle muscle") AnnotationAssertion( "HP:0003797") AnnotationAssertion(rdfs:label "Limb-girdle muscle atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55841,9 +55834,9 @@ SubClassOf( "HP:0005742") AnnotationAssertion( "HP:0005843") AnnotationAssertion( "UMLS:C1868549") -AnnotationAssertion(Annotation( ) "Marked delay in bone age") +AnnotationAssertion(Annotation( ) "Marked delay in bone age") AnnotationAssertion( "Marked retardation in skeletal maturation") -AnnotationAssertion(Annotation( ) "Markedly retarded bone age") +AnnotationAssertion(Annotation( ) "Markedly retarded bone age") AnnotationAssertion( "HP:0003799") AnnotationAssertion(rdfs:label "Marked delay in bone age") SubClassOf( ) @@ -55883,7 +55876,7 @@ SubClassOf( (Abnormal muscle tone) AnnotationAssertion( "UMLS:C0852413") -AnnotationAssertion(Annotation( ) "Abnormal muscle tone") +AnnotationAssertion(Annotation( ) "Abnormal muscle tone") AnnotationAssertion( "HP:0003808") AnnotationAssertion(rdfs:label "Abnormal muscle tone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -55913,7 +55906,7 @@ AnnotationAssertion( "MSH:D066087") AnnotationAssertion( "SNOMEDCT_US:276506001") AnnotationAssertion( "UMLS:C0410916") -AnnotationAssertion(Annotation( ) "Neonatal lethal") +AnnotationAssertion(Annotation( ) "Neonatal lethal") AnnotationAssertion( "HP:0003811") AnnotationAssertion(rdfs:label "Neonatal death") SubClassOf( ) @@ -55947,7 +55940,7 @@ AnnotationAssertion(Annotation( "HP:0001432") AnnotationAssertion( "HP:0004149") AnnotationAssertion( "UMLS:C1843392") -AnnotationAssertion(Annotation( ) "Death in childhood") +AnnotationAssertion(Annotation( ) "Death in childhood") AnnotationAssertion( "HP:0003819") AnnotationAssertion(rdfs:comment "previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal))") AnnotationAssertion(rdfs:label "Death in childhood") @@ -55966,9 +55959,9 @@ AnnotationAssertion( "UMLS:C0595939") AnnotationAssertion( "Late fetal death") AnnotationAssertion(Annotation( ) "Late foetal death") -AnnotationAssertion(Annotation( ) "Stillbirth") -AnnotationAssertion(Annotation( ) "Stillborn") -AnnotationAssertion(Annotation( ) "Fetal death") +AnnotationAssertion(Annotation( ) "Stillbirth") +AnnotationAssertion(Annotation( ) "Stillborn") +AnnotationAssertion(Annotation( ) "Fetal death") AnnotationAssertion( "Fetal demise") AnnotationAssertion(Annotation( ) "Foetal death") AnnotationAssertion(Annotation( ) "Foetal demise") @@ -56036,7 +56029,7 @@ AnnotationAssertion( "SNOMEDCT_US:125615005") AnnotationAssertion( "SNOMEDCT_US:417076003") AnnotationAssertion( "UMLS:C0037005") -AnnotationAssertion(Annotation( ) "Shoulder dislocation") +AnnotationAssertion(Annotation( ) "Shoulder dislocation") AnnotationAssertion( "HP:0003834") AnnotationAssertion(rdfs:label "Shoulder dislocation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56048,7 +56041,7 @@ SubClassOf( ) "A partial dislocation of the shoulder joint.") AnnotationAssertion( "SNOMEDCT_US:263051004") AnnotationAssertion( "UMLS:C0434744") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial shoulder dislocation") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial shoulder dislocation") AnnotationAssertion( "HP:0003835") AnnotationAssertion(rdfs:label "Shoulder subluxation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56066,7 +56059,7 @@ SubClassOf( ) "Formation of calcified tissue in the soft tissues surrounding the shoulder.") AnnotationAssertion( "UMLS:C4025561") -AnnotationAssertion(Annotation( ) Annotation( ) "Calcification of the soft-tissue around the shoulders") +AnnotationAssertion(Annotation( ) Annotation( ) "Calcification of the soft-tissue around the shoulders") AnnotationAssertion( "HP:0003837") AnnotationAssertion(rdfs:label "Soft-tissue ossification around the shoulders") SubClassOf( ) @@ -56075,7 +56068,7 @@ SubClassOf( "HP:0003845") AnnotationAssertion( "UMLS:C4021722") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of upper limb long bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of upper limb long bones") AnnotationAssertion( "Abnormality involving the epiphyses of the upper limbs") AnnotationAssertion( "Epihyseal plate abnormality of the upper limbs") AnnotationAssertion( "HP:0003839") @@ -56089,7 +56082,7 @@ SubClassOf( ) "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.") AnnotationAssertion( "UMLS:C4025560") AnnotationAssertion( "UMLS:C4280544") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation fo the end part of the upper limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation fo the end part of the upper limb bone") AnnotationAssertion( "HP:0003840") AnnotationAssertion(rdfs:label "Delayed upper limb epiphyseal ossification") SubClassOf( ) @@ -56098,7 +56091,7 @@ SubClassOf( (Fragmented epiphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025559") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmented end part of upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmented end part of upper limb bones") AnnotationAssertion( "HP:0003841") AnnotationAssertion(rdfs:label "Fragmented epiphyses of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56108,7 +56101,7 @@ SubClassOf( (Irregular epiphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025558") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of upper limb bones") AnnotationAssertion( "HP:0003842") AnnotationAssertion(rdfs:label "Irregular epiphyses of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56118,7 +56111,7 @@ SubClassOf( (Round epiphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025557") -AnnotationAssertion(Annotation( ) Annotation( ) "Round end part of upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Round end part of upper limb bones") AnnotationAssertion( "HP:0003843") AnnotationAssertion(rdfs:label "Round epiphyses of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56127,7 +56120,7 @@ SubClassOf( (Small epiphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025556") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of upper limb bones") AnnotationAssertion( "HP:0003844") AnnotationAssertion(rdfs:label "Small epiphyses of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56138,7 +56131,7 @@ SubClassOf( "UMLS:C4020913") AnnotationAssertion( "Broad epiphyseal plates of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad growth plates of upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad growth plates of upper limbs") AnnotationAssertion( "HP:0003846") AnnotationAssertion(rdfs:label "Wide epiphyseal plates of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56147,7 +56140,7 @@ SubClassOf( (Cupped metaphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025555") -AnnotationAssertion(Annotation( ) Annotation( ) "Cupped wide portion of the upper limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cupped wide portion of the upper limb bone") AnnotationAssertion( "HP:0003848") AnnotationAssertion(rdfs:label "Cupped metaphyses of the upper limbs") SubClassOf( ) @@ -56158,7 +56151,7 @@ SubClassOf( ) "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.") AnnotationAssertion( "UMLS:C4021721") AnnotationAssertion( "Flared metaphyses of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Flared wide portion of the upper limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flared wide portion of the upper limb bone") AnnotationAssertion( "HP:0003849") AnnotationAssertion(rdfs:label "Flared upper limb metaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56169,7 +56162,7 @@ SubClassOf( "UMLS:C4021720") AnnotationAssertion( "Irregular metaphyses of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of upper limb bones") AnnotationAssertion( "HP:0003850") AnnotationAssertion(rdfs:label "Upper-limb metaphyseal irregularity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56200,7 +56193,7 @@ SubClassOf( (Sclerosis of metaphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025551") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in wide portion of the upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in wide portion of the upper limb bones") AnnotationAssertion( "HP:0003854") AnnotationAssertion(rdfs:label "Sclerosis of metaphyses of the upper limbs") SubClassOf( ) @@ -56208,7 +56201,7 @@ SubClassOf( (Spurred metaphyses of the upper limbs) AnnotationAssertion( "UMLS:C4025550") -AnnotationAssertion(Annotation( ) Annotation( ) "Spurred wide portion of upper limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Spurred wide portion of upper limb bone") AnnotationAssertion( "HP:0003855") AnnotationAssertion(rdfs:label "Spurred metaphyses of the upper limbs") SubClassOf( ) @@ -56218,7 +56211,7 @@ SubClassOf( ) "Increased width (breadth) of metaphyses of the arms.") AnnotationAssertion( "UMLS:C4021719") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of upper limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of upper limb bone") AnnotationAssertion( "Wide/broad metaphyses of the upper limbs") AnnotationAssertion( "HP:0003856") AnnotationAssertion(rdfs:label "Upper limb metaphyseal widening") @@ -56244,7 +56237,7 @@ SubClassOf( ) "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4025547") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in central part of long bone of upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in central part of long bone of upper limbs") AnnotationAssertion( "HP:0003860") AnnotationAssertion(rdfs:label "Diaphyseal sclerosis of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))) ObjectSomeValuesFrom( )))) @@ -56254,9 +56247,9 @@ SubClassOf( (Broad diaphyses of the upper limbs) AnnotationAssertion( "UMLS:C4021718") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone of the upper limbs") AnnotationAssertion( "Wide diaphyses of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide shaft of long bone of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide shaft of long bone of the upper limbs") AnnotationAssertion( "HP:0003861") AnnotationAssertion(rdfs:label "Broad diaphyses of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56266,7 +56259,7 @@ SubClassOf( ) "Missing humerus bone associated with congenital failure of development.") AnnotationAssertion( "UMLS:C2678399") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent long bone in upper arm") AnnotationAssertion( "Aplasia of the humerus") AnnotationAssertion( "Aplastic humerus") AnnotationAssertion( "HP:0003862") @@ -56277,7 +56270,7 @@ SubClassOf( (Angulated humerus) AnnotationAssertion( "UMLS:C4025546") -AnnotationAssertion(Annotation( ) Annotation( ) "Angulated long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Angulated long bone in upper arm") AnnotationAssertion( "HP:0003863") AnnotationAssertion(rdfs:label "Angulated humerus") SubClassOf( ) @@ -56286,7 +56279,7 @@ SubClassOf( ) "Clefting affecting the humerus.") AnnotationAssertion( "UMLS:C4025545") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched long bone in upper arm") AnnotationAssertion( "HP:0003864") AnnotationAssertion(rdfs:label "Bifid humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56296,7 +56289,7 @@ SubClassOf( ) "A bending or abnormal curvature of the humerus.") AnnotationAssertion( "UMLS:C1859460") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowed long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowed long bone in upper arm") AnnotationAssertion( "Bowing of the humerus") AnnotationAssertion( "Humeral bowing") AnnotationAssertion( "HP:0003865") @@ -56341,7 +56334,7 @@ SubClassOf( "HP:0003873") AnnotationAssertion( "UMLS:C4025540") -AnnotationAssertion(Annotation( ) Annotation( ) "Crumpled long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Crumpled long bone in upper arm") AnnotationAssertion( "HP:0003870") AnnotationAssertion(rdfs:label "Crumpled humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56350,7 +56343,7 @@ SubClassOf( (Deformed humerus) AnnotationAssertion( "UMLS:C4025539") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformed long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformed long bone in upper arm") AnnotationAssertion( "HP:0003871") AnnotationAssertion(rdfs:label "Deformed humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56410,7 +56403,7 @@ SubClassOf( (Humeral pseudarthrosis) AnnotationAssertion( "UMLS:C4025532") -AnnotationAssertion(Annotation( ) Annotation( ) "False joint (long bone in upper arm)") +AnnotationAssertion(Annotation( ) Annotation( ) "False joint (long bone in upper arm)") AnnotationAssertion( "HP:0003879") AnnotationAssertion(rdfs:label "Humeral pseudarthrosis") SubClassOf( ) @@ -56426,7 +56419,7 @@ SubClassOf( (Humeral sclerosis) AnnotationAssertion( "UMLS:C4021716") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in long bone of upper arm") AnnotationAssertion( "Sclerosis of humerus") AnnotationAssertion( "HP:0003881") AnnotationAssertion(rdfs:label "Humeral sclerosis") @@ -56438,7 +56431,7 @@ SubClassOf( ) "Reduction in diameter of the humerus.") AnnotationAssertion( "UMLS:C4021851") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bone of upper arm") AnnotationAssertion( "HP:0003882") AnnotationAssertion(rdfs:label "Slender humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56448,7 +56441,7 @@ SubClassOf( (Tapered humerus) AnnotationAssertion( "UMLS:C4025531") -AnnotationAssertion(Annotation( ) Annotation( ) "Tapered long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Tapered long bone of upper arm") AnnotationAssertion( "HP:0003883") AnnotationAssertion(rdfs:label "Tapered humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56457,7 +56450,7 @@ SubClassOf( (Triangular humerus) AnnotationAssertion( "UMLS:C4025530") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular long bone of upper arm") AnnotationAssertion( "HP:0003884") AnnotationAssertion(rdfs:label "Triangular humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56474,7 +56467,7 @@ SubClassOf( "UMLS:C4021715") AnnotationAssertion( "Broad humerus") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bone of upper arm") AnnotationAssertion( "HP:0003886") AnnotationAssertion(rdfs:label "Wide humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56484,7 +56477,7 @@ SubClassOf( (Abnormal humeral head morphology) AnnotationAssertion( "UMLS:C4025528") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal head of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal head of long bone in upper arm") AnnotationAssertion( "Abnormality of the humeral heads") AnnotationAssertion( "HP:0003887") AnnotationAssertion(rdfs:label "Abnormal humeral head morphology") @@ -56494,7 +56487,7 @@ SubClassOf( (Flattened humeral heads) AnnotationAssertion( "UMLS:C3808869") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattended head of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattended head of long bone in upper arm") AnnotationAssertion( "HP:0003888") AnnotationAssertion(rdfs:label "Flattened humeral heads") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56521,7 +56514,7 @@ SubClassOf( ) "An anomaly of the humeral epiphysis.") AnnotationAssertion( "UMLS:C4021714") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the long bone of the upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the long bone of the upper arm") AnnotationAssertion( "Abnormality of the humeral epiphyses") AnnotationAssertion( "HP:0003891") AnnotationAssertion(rdfs:label "Abnormality of the humeral epiphysis") @@ -56533,7 +56526,7 @@ SubClassOf( ) "Lack of formation of bone in the epiphysis of the humerus.") AnnotationAssertion( "UMLS:C4021713") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent maturation of end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent maturation of end part of long bone in upper arm") AnnotationAssertion( "Absent ossification of the humeral epiphyses") AnnotationAssertion( "HP:0003892") AnnotationAssertion(rdfs:comment "Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation.") @@ -56547,7 +56540,7 @@ SubClassOf( ) "Ossification of the humeral epiphysis at an earlier age than normal.") AnnotationAssertion( "UMLS:C4020836") AnnotationAssertion( "UMLS:C4025526") -AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated maturation of end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated maturation of end part of long bone in upper arm") AnnotationAssertion( "Advanced maturation of the humeral epiphyses") AnnotationAssertion( "HP:0003893") AnnotationAssertion(rdfs:label "Advanced ossification of the humeral epiphysis") @@ -56561,7 +56554,7 @@ AnnotationAssertion(Annotation( "UMLS:C4021712") AnnotationAssertion( "UMLS:C4280543") AnnotationAssertion( "Delayed maturation/delayed ossification of the humeral epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the end part of the long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the end part of the long bone in upper arm") AnnotationAssertion( "HP:0003894") AnnotationAssertion(rdfs:label "Delayed humeral epiphyseal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56571,7 +56564,7 @@ SubClassOf( (Flattened humeral epiphyses) AnnotationAssertion( "UMLS:C4025525") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened end part of long bone in upper arm") AnnotationAssertion( "HP:0003895") AnnotationAssertion(rdfs:label "Flattened humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56581,7 +56574,7 @@ SubClassOf( (Irregular humeral epiphyses) AnnotationAssertion( "UMLS:C4025524") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of long bone in upper arm") AnnotationAssertion( "HP:0003896") AnnotationAssertion(rdfs:label "Irregular humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56592,7 +56585,7 @@ SubClassOf( "UMLS:C4025523") AnnotationAssertion( "UMLS:C4280542") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular maturation of the end part of the long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular maturation of the end part of the long bone in upper arm") AnnotationAssertion( "HP:0003897") AnnotationAssertion(rdfs:label "Irregular ossification of the humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56603,7 +56596,7 @@ SubClassOf( (Large humeral epiphyses) AnnotationAssertion( "UMLS:C4025522") -AnnotationAssertion(Annotation( ) Annotation( ) "Large end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Large end part of long bone in upper arm") AnnotationAssertion( "HP:0003898") AnnotationAssertion(rdfs:label "Large humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56613,7 +56606,7 @@ SubClassOf( (Round humeral epiphyses) AnnotationAssertion( "UMLS:C4025521") -AnnotationAssertion(Annotation( ) Annotation( ) "Round end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Round end part of long bone in upper arm") AnnotationAssertion( "HP:0003899") AnnotationAssertion(rdfs:label "Round humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56623,7 +56616,7 @@ SubClassOf( (Small humeral epiphyses) AnnotationAssertion( "UMLS:C4025520") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of long bone in upper arm") AnnotationAssertion( "HP:0003900") AnnotationAssertion(rdfs:label "Small humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56653,7 +56646,7 @@ SubClassOf( ) "Increased width of the humeral epiphysis.") AnnotationAssertion( "UMLS:C4021710") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide end part of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide end part of long bone in upper arm") AnnotationAssertion( "Wide humeral epiphyses") AnnotationAssertion( "HP:0003903") AnnotationAssertion(rdfs:label "Broad humeral epiphyses") @@ -56665,7 +56658,7 @@ SubClassOf( "UMLS:C4021709") AnnotationAssertion( "Broad epiphyses of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide end part of upper limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide end part of upper limb bones") AnnotationAssertion( "HP:0003904") AnnotationAssertion(rdfs:label "Wide epiphyses of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56674,7 +56667,7 @@ SubClassOf( (Abnormality of the humeral epiphyseal plate) -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of arm long bone growth plate") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of arm long bone growth plate") AnnotationAssertion( "UMLS:C4025518") AnnotationAssertion( "UMLS:C4280541") AnnotationAssertion( "HP:0003905") @@ -56685,7 +56678,7 @@ SubClassOf( (Broad humeral epiphyseal plate) AnnotationAssertion(Annotation( ) "Increased width of the humeral epiphyseal growth plate.") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bone of arm growth plate") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide long bone of arm growth plate") AnnotationAssertion( "UMLS:C4021708") AnnotationAssertion( "UMLS:C4280540") AnnotationAssertion( "Wide humeral epiphyseal plate") @@ -56699,7 +56692,7 @@ SubClassOf( "UMLS:C4025517") AnnotationAssertion( "Abnormality of the humeral metaphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the long bone in upper arm") AnnotationAssertion( "HP:0003907") AnnotationAssertion(rdfs:label "Abnormal humeral metaphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56727,7 +56720,7 @@ SubClassOf( (Enlarged humeral metaphyses) AnnotationAssertion( "UMLS:C4021707") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged wide portion of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged wide portion of long bone of upper arm") AnnotationAssertion( "Expanded humeral metaphyses") AnnotationAssertion( "HP:0003910") AnnotationAssertion(rdfs:label "Enlarged humeral metaphyses") @@ -56741,7 +56734,7 @@ AnnotationAssertion(Annotation( "HP:0003925") AnnotationAssertion( "UMLS:C4020835") AnnotationAssertion( "UMLS:C4020912") -AnnotationAssertion(Annotation( ) Annotation( ) "Flared wide portion of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Flared wide portion of long bone of upper arm") AnnotationAssertion( "Wide/broad humeral metaphysis") AnnotationAssertion( "Flared humerus") AnnotationAssertion( "HP:0003911") @@ -56761,7 +56754,7 @@ SubClassOf( "UMLS:C4021706") AnnotationAssertion( "Irregular humeral metaphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of long bone in upper arm") AnnotationAssertion( "HP:0003913") AnnotationAssertion(rdfs:label "Humeral metaphyseal irregularity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56771,7 +56764,7 @@ SubClassOf( (Irregular ossification of humeral metaphyses) AnnotationAssertion( "UMLS:C4025513") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular bone maturation of the wide portion of the long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular bone maturation of the wide portion of the long bone in upper arm") AnnotationAssertion( "HP:0003914") AnnotationAssertion(rdfs:label "Irregular ossification of humeral metaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -56798,7 +56791,7 @@ SubClassOf( (Pointed humeral metaphysis) AnnotationAssertion( "UMLS:C4025510") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed wide portion of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed wide portion of long bone of upper arm") AnnotationAssertion( "HP:0003917") AnnotationAssertion(rdfs:label "Pointed humeral metaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56807,8 +56800,8 @@ SubClassOf( (Sclerotic humeral metaphysis) AnnotationAssertion( "UMLS:C4025509") -AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of wide portion of long bone of upper arm") -AnnotationAssertion(Annotation( ) Annotation( ) "Stiffening of wide portion of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of wide portion of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Stiffening of wide portion of long bone of upper arm") AnnotationAssertion( "HP:0003918") AnnotationAssertion(rdfs:label "Sclerotic humeral metaphysis") SubClassOf( ) @@ -56823,7 +56816,7 @@ SubClassOf( (Sloping humeral metaphysis) AnnotationAssertion( "UMLS:C4025507") -AnnotationAssertion(Annotation( ) Annotation( ) "Sloping metaphysis of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Sloping metaphysis of long bone of upper arm") AnnotationAssertion( "HP:0003920") AnnotationAssertion(rdfs:label "Sloping humeral metaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56832,7 +56825,7 @@ SubClassOf( (Laterally sloping humeral metaphysis) AnnotationAssertion( "UMLS:C4025506") -AnnotationAssertion(Annotation( ) Annotation( ) "Laterally sloping metaphysis of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Laterally sloping metaphysis of long bone of upper arm") AnnotationAssertion( "HP:0003921") AnnotationAssertion(rdfs:label "Laterally sloping humeral metaphysis") SubClassOf( ) @@ -56840,7 +56833,7 @@ SubClassOf( (Spurred humeral metaphysis) AnnotationAssertion( "UMLS:C4025505") -AnnotationAssertion(Annotation( ) Annotation( ) "Spurred metaphysis of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Spurred metaphysis of long bone of upper arm") AnnotationAssertion( "HP:0003922") AnnotationAssertion(rdfs:label "Spurred humeral metaphysis") SubClassOf( ) @@ -56848,7 +56841,7 @@ SubClassOf( (Square humeral metaphysis) AnnotationAssertion( "UMLS:C4025504") -AnnotationAssertion(Annotation( ) Annotation( ) "Square metaphysis of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Square metaphysis of long bone of upper arm") AnnotationAssertion( "HP:0003923") AnnotationAssertion(rdfs:label "Square humeral metaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56857,7 +56850,7 @@ SubClassOf( (Stippled calcification of humeral metaphysis) AnnotationAssertion( "UMLS:C4025503") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcification in metaphysis of long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcification in metaphysis of long bone of upper arm") AnnotationAssertion( "HP:0003924") AnnotationAssertion(rdfs:label "Stippled calcification of humeral metaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56867,7 +56860,7 @@ SubClassOf( ) "An anomaly of the humeral diaphysis.") AnnotationAssertion( "UMLS:C4025502") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone in upper arm") AnnotationAssertion( "Abnormality of the humeral diaphysis") AnnotationAssertion( "HP:0003926") AnnotationAssertion(rdfs:label "Abnormal humeral diaphysis morphology") @@ -56927,7 +56920,7 @@ SubClassOf( (Sclerosis of humeral diaphysis) AnnotationAssertion( "UMLS:C4025496") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in shaft of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in shaft of long bone in upper arm") AnnotationAssertion( "HP:0003933") AnnotationAssertion(rdfs:label "Sclerosis of humeral diaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56937,7 +56930,7 @@ SubClassOf( (Slender humeral diaphysis) AnnotationAssertion( "UMLS:C4025495") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender shaft of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender shaft of long bone in upper arm") AnnotationAssertion( "HP:0003934") AnnotationAssertion(rdfs:label "Slender humeral diaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56948,8 +56941,8 @@ SubClassOf( ) "Increased width of the humeral diaphysis.") AnnotationAssertion( "UMLS:C4021704") AnnotationAssertion( "Broad humeral diaphysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone in upper arm") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide shaft of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide shaft of long bone in upper arm") AnnotationAssertion( "HP:0003935") AnnotationAssertion(rdfs:label "Wide humeral diaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -56959,7 +56952,7 @@ SubClassOf( (Synostosis involving the elbow) AnnotationAssertion( "UMLS:C4025494") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone fusion involving the elbow") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone fusion involving the elbow") AnnotationAssertion( "HP:0003938") AnnotationAssertion(rdfs:label "Synostosis involving the elbow") SubClassOf( ) @@ -57004,7 +56997,7 @@ SubClassOf( (Abnormality of the joint spaces of the elbow) AnnotationAssertion( "UMLS:C4025491") -AnnotationAssertion(Annotation( ) "Abnormality of the joint spaces of the elbow") +AnnotationAssertion(Annotation( ) "Abnormality of the joint spaces of the elbow") AnnotationAssertion( "HP:0003943") AnnotationAssertion(rdfs:label "Abnormality of the joint spaces of the elbow") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57013,7 +57006,7 @@ SubClassOf( (Narrow joint spaces of the elbow) AnnotationAssertion( "UMLS:C4025490") -AnnotationAssertion(Annotation( ) "Narrow joint spaces of the elbow") +AnnotationAssertion(Annotation( ) "Narrow joint spaces of the elbow") AnnotationAssertion( "HP:0003944") AnnotationAssertion(rdfs:label "Narrow joint spaces of the elbow") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57029,7 +57022,7 @@ SubClassOf( (Abnormality of the epiphyses of the elbow) AnnotationAssertion( "UMLS:C4025488") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the elbow bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the elbow bone") AnnotationAssertion( "HP:0003946") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the elbow") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -57040,7 +57033,7 @@ SubClassOf( ) "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.") AnnotationAssertion( "UMLS:C4025487") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the end part of the elbow bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the end part of the elbow bone") AnnotationAssertion( "HP:0003947") AnnotationAssertion(rdfs:label "Delayed elbow epiphyseal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -57050,7 +57043,7 @@ SubClassOf( (Irregular epiphyses of the elbow) AnnotationAssertion( "UMLS:C4025486") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the elbow bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the elbow bone") AnnotationAssertion( "HP:0003948") AnnotationAssertion(rdfs:label "Irregular epiphyses of the elbow") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -57060,7 +57053,7 @@ SubClassOf( (Abnormal elbow metaphysis morphology) AnnotationAssertion( "UMLS:C4025485") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wide portion of elbow bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wide portion of elbow bone") AnnotationAssertion( "HP:0003949") AnnotationAssertion(rdfs:label "Abnormal elbow metaphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57070,7 +57063,7 @@ SubClassOf( (Flared elbow metaphyses) AnnotationAssertion( "UMLS:C4025484") -AnnotationAssertion(Annotation( ) "Flared wide portion of elbow bone") +AnnotationAssertion(Annotation( ) "Flared wide portion of elbow bone") AnnotationAssertion( "HP:0003950") AnnotationAssertion(rdfs:label "Flared elbow metaphyses") SubClassOf( ) @@ -57081,7 +57074,7 @@ SubClassOf( ) "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).") AnnotationAssertion( "UMLS:C4021703") AnnotationAssertion( "Irregular metaphyses of elbow") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of elbow bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wide portion of elbow bone") AnnotationAssertion( "HP:0003951") AnnotationAssertion(rdfs:label "Distal humeral metaphyseal irregularity") SubClassOf( ) @@ -57100,7 +57093,7 @@ SubClassOf( ) "Absence of one or more forearm bones associated with congenital failure of development.") AnnotationAssertion( "UMLS:C4021701") -AnnotationAssertion(Annotation( ) "Absent forearm bone") +AnnotationAssertion(Annotation( ) "Absent forearm bone") AnnotationAssertion( "Aplasia of the forearm bones") AnnotationAssertion( "HP:0003953") AnnotationAssertion(rdfs:label "Absent forearm bone") @@ -57110,7 +57103,7 @@ SubClassOf( (Angulated forearm bones) AnnotationAssertion( "UMLS:C4025483") -AnnotationAssertion(Annotation( ) "Angulated forearm bones") +AnnotationAssertion(Annotation( ) "Angulated forearm bones") AnnotationAssertion( "HP:0003954") AnnotationAssertion(rdfs:label "Angulated forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57120,7 +57113,7 @@ SubClassOf( ) "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.") AnnotationAssertion( "UMLS:C4025482") -AnnotationAssertion(Annotation( ) "Bone-in-a-bone appearance of forearm") +AnnotationAssertion(Annotation( ) "Bone-in-a-bone appearance of forearm") AnnotationAssertion( "HP:0003955") AnnotationAssertion(rdfs:label "Bone-in-a-bone appearance of forearm") SubClassOf( ) @@ -57129,7 +57122,7 @@ SubClassOf( ) "A bending or abnormal curvature affecting either the radius, the ulna, or both.") AnnotationAssertion( "UMLS:C4025481") -AnnotationAssertion(Annotation( ) "Bowed forearm bones") +AnnotationAssertion(Annotation( ) "Bowed forearm bones") AnnotationAssertion( "HP:0003956") AnnotationAssertion(rdfs:label "Bowed forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57154,7 +57147,7 @@ SubClassOf( (Deformed forearm bones) AnnotationAssertion( "UMLS:C4025479") -AnnotationAssertion(Annotation( ) "Deformed forearm bones") +AnnotationAssertion(Annotation( ) "Deformed forearm bones") AnnotationAssertion( "HP:0003959") AnnotationAssertion(rdfs:label "Deformed forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57174,7 +57167,7 @@ AnnotationAssertion( "UMLS:C4025477") AnnotationAssertion( "Broken forearm") AnnotationAssertion( "Fracture of the forearm") -AnnotationAssertion(Annotation( ) "Fractured forearm bones") +AnnotationAssertion(Annotation( ) "Fractured forearm bones") AnnotationAssertion( "HP:0003961") AnnotationAssertion(rdfs:label "Fractured forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57213,7 +57206,7 @@ SubClassOf( (Sclerotic forearm bones) AnnotationAssertion( "UMLS:C4025472") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of forearm bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of forearm bones") AnnotationAssertion( "HP:0003967") AnnotationAssertion(rdfs:label "Sclerotic forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -57238,8 +57231,8 @@ SubClassOf( ) "Abnormally wide bone of the skeleton of forearm.") AnnotationAssertion( "UMLS:C4021700") -AnnotationAssertion(Annotation( ) "Broad forearm bones") -AnnotationAssertion(Annotation( ) "Wide forearm bones") +AnnotationAssertion(Annotation( ) "Broad forearm bones") +AnnotationAssertion(Annotation( ) "Wide forearm bones") AnnotationAssertion( "HP:0003971") AnnotationAssertion(rdfs:label "Broad forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57265,7 +57258,7 @@ AnnotationAssertion( "UMLS:C1849314") AnnotationAssertion( "Absent ossification/absence of radius") AnnotationAssertion( "Aplasia of the radius") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing outer large bone of forearm") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing outer large bone of forearm") AnnotationAssertion( "Radial aplasia") AnnotationAssertion( "absence of radius and ulna") AnnotationAssertion( "HP:0003974") @@ -57466,8 +57459,8 @@ AnnotationAssertion( "MEDDRA:10013184") AnnotationAssertion( "SNOMEDCT_US:125618007") AnnotationAssertion( "UMLS:C0159941") -AnnotationAssertion(Annotation( ) "Dislocated wrist") -AnnotationAssertion(Annotation( ) "Dislocations of the wrists") +AnnotationAssertion(Annotation( ) "Dislocated wrist") +AnnotationAssertion(Annotation( ) "Dislocations of the wrists") AnnotationAssertion( "HP:0003994") AnnotationAssertion(rdfs:label "Dislocated wrist") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -57951,7 +57944,7 @@ SubClassOf( "PMID:19125433") "The total absence of the hand, with no bony elements distal to the radius or ulna.") AnnotationAssertion( "SNOMEDCT_US:371199008") AnnotationAssertion( "UMLS:C0265594") -AnnotationAssertion(Annotation( ) "Absent hand") +AnnotationAssertion(Annotation( ) "Absent hand") AnnotationAssertion( "Acheiria") AnnotationAssertion( "HP:0004050") AnnotationAssertion( ) @@ -57963,7 +57956,7 @@ SubClassOf( ) "Ossification of hand bones at an earlier age than normal.") AnnotationAssertion( "UMLS:C4020834") -AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated maturation of hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated maturation of hand bones") AnnotationAssertion( "Advanced maturation of the hand bones") AnnotationAssertion( "HP:0004051") AnnotationAssertion(rdfs:label "Advanced ossification of the hand bones") @@ -57976,7 +57969,7 @@ AnnotationAssertion(Annotation( "UMLS:C4020833") AnnotationAssertion( "UMLS:C4021686") AnnotationAssertion( "Delay maturation/delayed ossification of the hand") -AnnotationAssertion(Annotation( ) "Delayed maturation of the hand bones") +AnnotationAssertion(Annotation( ) "Delayed maturation of the hand bones") AnnotationAssertion( "HP:0004052") AnnotationAssertion(rdfs:label "Delayed ossification of the hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -58002,7 +57995,7 @@ AnnotationAssertion( ) "Generalised sclerosis of hand bones") AnnotationAssertion( "Generalized sclerosis of hand bones") AnnotationAssertion( "Hand bone sclerosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in hand bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in hand bone") AnnotationAssertion( "Increased bone density in hand bones") AnnotationAssertion( "HP:0004054") AnnotationAssertion(rdfs:label "Sclerosis of hand bone") @@ -58072,7 +58065,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Curved fingers) AnnotationAssertion( "UMLS:C4025413") -AnnotationAssertion(Annotation( ) "Curved fingers") +AnnotationAssertion(Annotation( ) "Curved fingers") AnnotationAssertion( "HP:0004095") AnnotationAssertion(rdfs:label "Curved fingers") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58086,9 +58079,9 @@ AnnotationAssertion( "SNOMEDCT_US:203556007") AnnotationAssertion( "SNOMEDCT_US:26517000") AnnotationAssertion( "UMLS:C0410740") -AnnotationAssertion(Annotation( ) Annotation( ) "Atypical position of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Atypical position of finger") AnnotationAssertion( "Deviated fingers") -AnnotationAssertion(Annotation( ) "Finger pointing in a different direction than usual") +AnnotationAssertion(Annotation( ) "Finger pointing in a different direction than usual") AnnotationAssertion( "HP:0004097") AnnotationAssertion(rdfs:label "Deviation of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58102,7 +58095,7 @@ AnnotationAssertion(Annotation(rdfs:label "Macrodactyly") "MSH:C562546") AnnotationAssertion( "SNOMEDCT_US:48449000") AnnotationAssertion( "UMLS:C0265552") -AnnotationAssertion(Annotation( ) Annotation( ) "Finger overgrowth") +AnnotationAssertion(Annotation( ) Annotation( ) "Finger overgrowth") AnnotationAssertion( "Megalodactyly") AnnotationAssertion( "HP:0004099") AnnotationAssertion( ) @@ -58115,7 +58108,7 @@ SubClassOf( ) "An anomaly of the second finger, also known as the index finger.") AnnotationAssertion( "UMLS:C4021683") -AnnotationAssertion(Annotation( ) "Abnormality of index finger") +AnnotationAssertion(Annotation( ) "Abnormality of index finger") AnnotationAssertion( "Abnormality of the 2nd finger") AnnotationAssertion( "HP:0004100") AnnotationAssertion(rdfs:label "Abnormal 2nd finger morphology") @@ -58135,8 +58128,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-21T04:59:08Z") AnnotationAssertion( "UMLS:C4025412") -AnnotationAssertion(Annotation( ) Annotation( ) "Central nasal groove") -AnnotationAssertion(Annotation( ) "Midline nasal groove") +AnnotationAssertion(Annotation( ) Annotation( ) "Central nasal groove") +AnnotationAssertion(Annotation( ) "Midline nasal groove") AnnotationAssertion( "HP:0004112") AnnotationAssertion(rdfs:label "Midline nasal groove") SubClassOf( ) @@ -58158,10 +58151,10 @@ AnnotationAssertion( "UMLS:C4280539") AnnotationAssertion(Annotation( ) "Central defect of nose") AnnotationAssertion(Annotation( ) "Central nasal defect") -AnnotationAssertion(Annotation( ) "Midline defect of the nose") +AnnotationAssertion(Annotation( ) "Midline defect of the nose") AnnotationAssertion(Annotation( ) "Midline nasal defect") -AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Midline cleft of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Midline cleft of nose") AnnotationAssertion( "HP:0004122") AnnotationAssertion(rdfs:label "Midline defect of the nose") SubClassOf( ) @@ -58172,8 +58165,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-21T05:05:55Z") AnnotationAssertion( "UMLS:C1863349") -AnnotationAssertion(Annotation( ) "Dimple on nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Dimpled tip of nose") +AnnotationAssertion(Annotation( ) "Dimple on nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Dimpled tip of nose") AnnotationAssertion( "HP:0004132") AnnotationAssertion(rdfs:label "Dimple on nasal tip") SubClassOf( ) @@ -58255,7 +58248,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Abnormality of the middle phalanx of the 3rd finger) AnnotationAssertion( "UMLS:C4025410") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle finger bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle finger bone of the middle finger") AnnotationAssertion( "HP:0004172") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58282,7 +58275,7 @@ AnnotationAssertion( "UMLS:C4021681") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 3rd finger") AnnotationAssertion( "Short distal phalanx of the third finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the middle finger") AnnotationAssertion( "Short terminal phalanx of middle finger") AnnotationAssertion( "HP:0004180") AnnotationAssertion(rdfs:label "Short distal phalanx of the 3rd finger") @@ -58380,7 +58373,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Fusion of two or more bones of the 4th finger.") AnnotationAssertion( "UMLS:C4021679") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused ring finger bones") AnnotationAssertion( "Symphalangism of the ring finger") AnnotationAssertion( "HP:0004197") AnnotationAssertion(rdfs:label "Symphalangism of the 4th finger") @@ -58422,9 +58415,9 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "An abnormality affecting one or both 5th fingers.") AnnotationAssertion( "UMLS:C4021678") AnnotationAssertion( "Abnormality of the 5th finger") -AnnotationAssertion(Annotation( ) "Abnormality of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky finger") +AnnotationAssertion(Annotation( ) "Abnormality of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky finger") AnnotationAssertion( "HP:0004207") AnnotationAssertion(rdfs:label "Abnormal 5th finger morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58439,9 +58432,9 @@ AnnotationAssertion( "HP:0006083") AnnotationAssertion( "HP:0006181") AnnotationAssertion( "HP:0009181") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of pinky finger") AnnotationAssertion( "UMLS:C1850049") AnnotationAssertion( "UMLS:C4280538") AnnotationAssertion( "Bilateral fifth digit clinodactyly") @@ -58449,7 +58442,7 @@ AnnotationAssertion( "Clinodactyly of fifth digit") AnnotationAssertion( "Clinodactyly of the little finger") AnnotationAssertion( "Fifth finger clinodactyly") -AnnotationAssertion(Annotation( ) Annotation( ) "Permanent curving of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Permanent curving of the pinkie finger") AnnotationAssertion( "HP:0004209") AnnotationAssertion(rdfs:comment "Minor degrees of curvature of the small finger are so common as to be considered normal.") AnnotationAssertion(rdfs:label "Clinodactyly of the 5th finger") @@ -58461,10 +58454,10 @@ SubClassOf( ) "Abnormality of the phalanges of the 5th (little) finger.") AnnotationAssertion( "UMLS:C4025408") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the little finger bone") AnnotationAssertion( "Abnormality of the phalanges of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky finger bone") AnnotationAssertion( "HP:0004213") AnnotationAssertion(rdfs:label "Abnormal 5th finger phalanx morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58475,9 +58468,9 @@ SubClassOf( ) "Curved phalanges of the 5th (little) finger.") AnnotationAssertion( "UMLS:C4025407") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved pinky finger bone") AnnotationAssertion( "HP:0004214") AnnotationAssertion(rdfs:label "Curved phalanges of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58501,9 +58494,9 @@ SubClassOf( ) "Fusion of two or more bones of the 5th finger.") AnnotationAssertion( "UMLS:C4021676") AnnotationAssertion( "Fifth finger symphalangism") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused pinky finger bones") AnnotationAssertion( "Symphalagism of the little finger") AnnotationAssertion( "HP:0004218") AnnotationAssertion(rdfs:label "Symphalangism of the 5th finger") @@ -58515,9 +58508,9 @@ SubClassOf( (Abnormality of the middle phalanx of the 5th finger) AnnotationAssertion( "UMLS:C4025406") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of pinky finger") AnnotationAssertion( "HP:0004219") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58542,9 +58535,9 @@ AnnotationAssertion( "Hypoplastic middle phalanx of the 5th finger") AnnotationAssertion( "Hypoplastic/small middle phalanx of the 5th finger") AnnotationAssertion( "Hypoplastic/small middle phalanx of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of the pinky finger") AnnotationAssertion( "Short middle phalanx of the little finger") AnnotationAssertion( "Type A3 brachydactyly") AnnotationAssertion( "HP:0004220") @@ -58560,9 +58553,9 @@ SubClassOf( ) "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.") AnnotationAssertion( "UMLS:C4021675") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost pinky finger bone") AnnotationAssertion( "Cone-shaped epiphysis of the distal phalanx of the little finger") AnnotationAssertion( "HP:0004222") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 5th finger") @@ -58576,9 +58569,9 @@ SubClassOf( ) "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.") AnnotationAssertion( "HP:0004229") AnnotationAssertion( "UMLS:C4021674") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost pinky finger bone") AnnotationAssertion( "Ivory epiphysis of the distal phalanx of the little finger") AnnotationAssertion( "Ivory epiphysis of the terminal phalanx of the little finger") AnnotationAssertion( "HP:0004223") @@ -58592,9 +58585,9 @@ SubClassOf( ) "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.") AnnotationAssertion( "UMLS:C4025405") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of middle little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of middle pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of middle pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of middle little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of middle pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of middle pinky finger bone") AnnotationAssertion( "HP:0004224") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -58607,9 +58600,9 @@ SubClassOf( ) "Abnormality of the distal phalanx of the 5th (little) finger.") AnnotationAssertion( "UMLS:C4021673") AnnotationAssertion( "Abnormality of the distal phalanx of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost pinky finger bone") AnnotationAssertion( "Abnormality of the terminal phalanx of the little finger") AnnotationAssertion( "HP:0004225") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 5th finger") @@ -58620,9 +58613,9 @@ SubClassOf( ) "Curved appearance of the distal phalanx of the 5th (little) finger.") AnnotationAssertion( "UMLS:C4021672") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost pinky finger bone") AnnotationAssertion( "Curved terminal phalanx of the little finger") AnnotationAssertion( "HP:0004226") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 5th finger") @@ -58640,9 +58633,9 @@ AnnotationAssertion( "Fifth digit distal phalangeal hypoplasia") AnnotationAssertion( "Hypoplastic/small terminal phalanx of the little finger") AnnotationAssertion( "Short distal phalanx of the fifth finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost pinky finger bone") AnnotationAssertion( "HP:0004227") AnnotationAssertion(rdfs:label "Short distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58654,9 +58647,9 @@ SubClassOf( ) "A partial dislocation of the proximal interphalangeal joint of the little finger.") AnnotationAssertion( "UMLS:C4025404") -AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated innermost hinge joint of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated innermost hinge joint of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated innermost hinge joint of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated innermost hinge joint of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated innermost hinge joint of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated innermost hinge joint of pinky finger") AnnotationAssertion( "HP:0004230") AnnotationAssertion(rdfs:label "Subluxation of the proximal interphalangeal joint of the little finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -58669,8 +58662,8 @@ AnnotationAssertion(Annotation( "HP:0005056") AnnotationAssertion( "HP:0006020") AnnotationAssertion( "HP:0006084") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent wrist bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing wrist bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent wrist bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing wrist bone") AnnotationAssertion( "UMLS:C1836219") AnnotationAssertion( "UMLS:C4280537") AnnotationAssertion( "Absent carpal bone") @@ -58687,7 +58680,7 @@ SubClassOf( (Accessory carpal bones) AnnotationAssertion(Annotation( ) "The presence of more than the normal number of carpal bones.") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra wrist bones") AnnotationAssertion( "SNOMEDCT_US:20136007") AnnotationAssertion( "SNOMEDCT_US:9181003") AnnotationAssertion( "UMLS:C0265609") @@ -58702,7 +58695,7 @@ SubClassOf( ) "Ossification of carpal bones at an abnormally early age.") AnnotationAssertion( "HP:0006104") -AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated wrist bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated wrist bone maturation") AnnotationAssertion( "UMLS:C1849292") AnnotationAssertion( "UMLS:C4280536") AnnotationAssertion( "Accelerated carpal bone maturation") @@ -58717,7 +58710,7 @@ SubClassOf( (Bone-in-a-bone appearance of carpal bones) AnnotationAssertion(Annotation( ) "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone-in-a-bone appearance of wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone-in-a-bone appearance of wrist bones") AnnotationAssertion( "UMLS:C4025403") AnnotationAssertion( "HP:0004234") AnnotationAssertion(rdfs:label "Bone-in-a-bone appearance of carpal bones") @@ -58726,7 +58719,7 @@ SubClassOf( (Comma-shaped carpal bones) -AnnotationAssertion(Annotation( ) Annotation( ) "Comma-shaped wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Comma-shaped wrist bones") AnnotationAssertion( "UMLS:C4025402") AnnotationAssertion( "HP:0004235") AnnotationAssertion(rdfs:label "Comma-shaped carpal bones") @@ -58735,7 +58728,7 @@ SubClassOf( (Irregular carpal bones) AnnotationAssertion(Annotation( ) "Carpal bones with irregular or fragmented margins.") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular wrist bones") AnnotationAssertion( "UMLS:C4025401") AnnotationAssertion( "HP:0004236") AnnotationAssertion(rdfs:label "Irregular carpal bones") @@ -58745,7 +58738,7 @@ SubClassOf( (Large carpal bones) AnnotationAssertion(Annotation( ) "Increased size of carpal bones.") -AnnotationAssertion(Annotation( ) Annotation( ) "Large wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Large wrist bones") AnnotationAssertion( "UMLS:C4021671") AnnotationAssertion( "Large carpals") AnnotationAssertion( "HP:0004237") @@ -58771,8 +58764,8 @@ SubClassOf( (Sclerotic foci within carpal bones) -AnnotationAssertion(Annotation( ) Annotation( ) "Hardened spots within wrist bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Stiffened spots within wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Hardened spots within wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Stiffened spots within wrist bones") AnnotationAssertion( "UMLS:C4025398") AnnotationAssertion( "UMLS:C4280535") AnnotationAssertion( "HP:0004240") @@ -58794,7 +58787,7 @@ SubClassOf( (Broad carpal bones) -AnnotationAssertion(Annotation( ) Annotation( ) "Wide wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide wrist bones") AnnotationAssertion( "UMLS:C3554618") AnnotationAssertion( "Wide carpal bones") AnnotationAssertion( "HP:0004242") @@ -59011,7 +59004,7 @@ SubClassOf( (Narrow small joints of the hand) AnnotationAssertion( "UMLS:C4025382") -AnnotationAssertion(Annotation( ) "Narrow small joints of the hand") +AnnotationAssertion(Annotation( ) "Narrow small joints of the hand") AnnotationAssertion( "HP:0004267") AnnotationAssertion(rdfs:label "Narrow small joints of the hand") SubClassOf( ) @@ -59028,7 +59021,7 @@ SubClassOf( ) "A partial dislocation of some or all of the small joints of the hand.") AnnotationAssertion( "UMLS:C4025380") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial dislocation of small joints of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial dislocation of small joints of hand") AnnotationAssertion( "HP:0004269") AnnotationAssertion(rdfs:label "Subluxation of the small joints of the hand") SubClassOf( ) @@ -59054,7 +59047,7 @@ SubClassOf( "UMLS:C4025377") AnnotationAssertion(Annotation( ) "Cupped metaphysis of hand bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Cupped wide portion of hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cupped wide portion of hand bones") AnnotationAssertion( "HP:0004273") AnnotationAssertion(rdfs:label "Cupped metaphyses of hand bones") SubClassOf( ) @@ -59063,7 +59056,7 @@ SubClassOf( "UMLS:C4025376") AnnotationAssertion( "UMLS:C4280534") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficient maturation of hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficient maturation of hand bones") AnnotationAssertion( "HP:0004274") AnnotationAssertion(rdfs:label "Deficient ossification of hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -59072,7 +59065,7 @@ SubClassOf( (Duplication of hand bones) AnnotationAssertion( "UMLS:C3276746") -AnnotationAssertion(Annotation( ) "Duplication of hand bones") +AnnotationAssertion(Annotation( ) "Duplication of hand bones") AnnotationAssertion( "HP:0004275") AnnotationAssertion(rdfs:label "Duplication of hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59093,8 +59086,8 @@ SubClassOf( "HP:0041232") AnnotationAssertion( "SNOMEDCT_US:20511007") AnnotationAssertion( "UMLS:C0435632") -AnnotationAssertion(Annotation( ) Annotation( ) "Broken hand bones") -AnnotationAssertion(Annotation( ) "Fractured hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Broken hand bones") +AnnotationAssertion(Annotation( ) "Fractured hand bones") AnnotationAssertion( "HP:0004277") AnnotationAssertion(rdfs:label "Fractured hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59105,7 +59098,7 @@ SubClassOf( ) "An abnormal union between bones or parts of bones of the hand.") AnnotationAssertion( "UMLS:C4020831") -AnnotationAssertion(Annotation( ) "Fused hand bones") +AnnotationAssertion(Annotation( ) "Fused hand bones") AnnotationAssertion( "HP:0004278") AnnotationAssertion(rdfs:label "Synostosis involving bones of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59117,10 +59110,10 @@ SubClassOf( ) Annotation( "PMID:19125433") "Short palm.") AnnotationAssertion( "HP:0001165") AnnotationAssertion( "UMLS:C1843108") -AnnotationAssertion(Annotation( ) "Short palm") +AnnotationAssertion(Annotation( ) "Short palm") AnnotationAssertion( "Hypoplastic hands") -AnnotationAssertion(Annotation( ) "Short hands") -AnnotationAssertion(Annotation( ) Annotation( ) "Short palms") +AnnotationAssertion(Annotation( ) "Short hands") +AnnotationAssertion(Annotation( ) Annotation( ) "Short palms") AnnotationAssertion( "HP:0004279") AnnotationAssertion(rdfs:comment "This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. \"Short hand\" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short.") AnnotationAssertion(rdfs:label "Short palm") @@ -59131,7 +59124,7 @@ SubClassOf( (Irregular ossification of hand bones) AnnotationAssertion( "UMLS:C4025374") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular maturation of hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular maturation of hand bones") AnnotationAssertion( "HP:0004280") AnnotationAssertion(rdfs:label "Irregular ossification of hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -59150,7 +59143,7 @@ SubClassOf( "PMID:19125433") "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.") AnnotationAssertion( "UMLS:C1857632") AnnotationAssertion( "Narrow hand") -AnnotationAssertion(Annotation( ) "Narrow palm") +AnnotationAssertion(Annotation( ) "Narrow palm") AnnotationAssertion(Annotation( ) "Narrow hands") AnnotationAssertion( "HP:0004283") AnnotationAssertion(rdfs:comment "Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces \"narrow hands\" as that term may leave the impression that it includes the thumb, which it does not.") @@ -59161,7 +59154,7 @@ SubClassOf( (Notched hand bones) AnnotationAssertion( "UMLS:C4025372") -AnnotationAssertion(Annotation( ) "Notched hand bones") +AnnotationAssertion(Annotation( ) "Notched hand bones") AnnotationAssertion( "HP:0004284") AnnotationAssertion(rdfs:label "Notched hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59177,7 +59170,7 @@ SubClassOf( (Patchy sclerosis of hand bones) AnnotationAssertion( "UMLS:C4025370") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in hand bones") AnnotationAssertion( "HP:0004286") AnnotationAssertion(rdfs:label "Patchy sclerosis of hand bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59186,7 +59179,7 @@ SubClassOf( (Pointed hand bones) AnnotationAssertion( "UMLS:C4025369") -AnnotationAssertion(Annotation( ) "Pointed hand bones") +AnnotationAssertion(Annotation( ) "Pointed hand bones") AnnotationAssertion( "HP:0004287") AnnotationAssertion(rdfs:label "Pointed hand bones") SubClassOf( ) @@ -59243,7 +59236,7 @@ SubClassOf( ) "A partial dislocation affecting some or all of the metacarpophalangeal joints.") AnnotationAssertion( "UMLS:C4025363") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial knuckle dislocation") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial knuckle dislocation") AnnotationAssertion(Annotation( ) "Subluxation of metacarpophalangeal joints") AnnotationAssertion( "HP:0004294") AnnotationAssertion(rdfs:label "Subluxation of metacarpal phalangeal joints") @@ -59257,7 +59250,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-02-20T11:12:00Z") AnnotationAssertion( "UMLS:C4025362") AnnotationAssertion( "Abnormality of the gastric mucosa") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the mucous membrane layer of stomach") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the mucous membrane layer of stomach") AnnotationAssertion( "HP:0004295") AnnotationAssertion(rdfs:label "Abnormal gastric mucosa morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59268,7 +59261,7 @@ SubClassOf( ) AnnotationAssertion( "2008-02-20T11:24:00Z") AnnotationAssertion( "UMLS:C4025361") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormality of GI blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormality of GI blood vessels") AnnotationAssertion(Annotation( ) "Abnormality of GI vasculature") AnnotationAssertion( "Abnormality of gastrointestinal vasculature") AnnotationAssertion( "HP:0004296") @@ -59296,7 +59289,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0001462") AnnotationAssertion( "UMLS:C4021664") AnnotationAssertion( "Abnormality of external features of the abdomen") -AnnotationAssertion(Annotation( ) "Abnormality of the abdominal wall") +AnnotationAssertion(Annotation( ) "Abnormality of the abdominal wall") AnnotationAssertion( "HP:0004298") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the abdominal wall") @@ -59357,8 +59350,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0007120") AnnotationAssertion( "SNOMEDCT_US:102542000") AnnotationAssertion( "UMLS:C0235086") -AnnotationAssertion(Annotation( ) "Involuntary movements") -AnnotationAssertion(Annotation( ) "Involuntary muscle contractions") +AnnotationAssertion(Annotation( ) "Involuntary movements") +AnnotationAssertion(Annotation( ) "Involuntary muscle contractions") AnnotationAssertion( "HP:0004305") AnnotationAssertion(rdfs:label "Involuntary movements") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59511,7 +59504,7 @@ AnnotationAssertion( "Decreased aldosterone production") AnnotationAssertion( "Decreased serum aldosterone") AnnotationAssertion( "Hypoaldosteronism") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood aldosterone level") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood aldosterone level") AnnotationAssertion( "Mineralocorticoid insufficiency") AnnotationAssertion( "HP:0004319") AnnotationAssertion(rdfs:comment "Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis.") @@ -59564,10 +59557,10 @@ AnnotationAssertion( "HP:0008913") AnnotationAssertion( "SNOMEDCT_US:237836003") AnnotationAssertion( "UMLS:C0349588") -AnnotationAssertion(Annotation( ) "Decreased body height") +AnnotationAssertion(Annotation( ) "Decreased body height") AnnotationAssertion( "Height less than 3rd percentile") -AnnotationAssertion(Annotation( ) "Short stature") -AnnotationAssertion(Annotation( ) "Small stature") +AnnotationAssertion(Annotation( ) "Short stature") +AnnotationAssertion(Annotation( ) "Small stature") AnnotationAssertion( "Stature below 3rd percentile") AnnotationAssertion( "HP:0004322") AnnotationAssertion(rdfs:label "Short stature") @@ -59583,7 +59576,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0010718") AnnotationAssertion( "UMLS:C0878621") AnnotationAssertion( "UMLS:C4025357") -AnnotationAssertion(Annotation( ) "Abnormality of body weight") +AnnotationAssertion(Annotation( ) "Abnormality of body weight") AnnotationAssertion( "Abnormality of habitus") AnnotationAssertion( "HP:0004323") AnnotationAssertion(rdfs:label "Abnormality of body weight") @@ -59601,8 +59594,8 @@ AnnotationAssertion( "SNOMEDCT_US:262286000") AnnotationAssertion( "SNOMEDCT_US:8943002") AnnotationAssertion( "UMLS:C0043094") -AnnotationAssertion(Annotation( ) "Increased body weight") -AnnotationAssertion(Annotation( ) "Weight gain") +AnnotationAssertion(Annotation( ) "Increased body weight") +AnnotationAssertion(Annotation( ) "Weight gain") AnnotationAssertion( "HP:0004324") AnnotationAssertion(rdfs:label "Increased body weight") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59624,11 +59617,11 @@ AnnotationAssertion( "UMLS:C0041667") AnnotationAssertion( "UMLS:C1262477") AnnotationAssertion( "UMLS:C1844806") -AnnotationAssertion(Annotation( ) "Decreased body weight") -AnnotationAssertion(Annotation( ) "Decreased weight") -AnnotationAssertion(Annotation( ) "Low body weight") -AnnotationAssertion(Annotation( ) "Low weight") -AnnotationAssertion(Annotation( ) "Weight less than 3rd percentile") +AnnotationAssertion(Annotation( ) "Decreased body weight") +AnnotationAssertion(Annotation( ) "Decreased weight") +AnnotationAssertion(Annotation( ) "Low body weight") +AnnotationAssertion(Annotation( ) "Low weight") +AnnotationAssertion(Annotation( ) "Weight less than 3rd percentile") AnnotationAssertion( "HP:0004325") AnnotationAssertion(rdfs:label "Decreased body weight") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59643,7 +59636,7 @@ AnnotationAssertion( "SNOMEDCT_US:238108007") AnnotationAssertion( "SNOMEDCT_US:285384003") AnnotationAssertion( "UMLS:C0006625") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting syndrome") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting syndrome") AnnotationAssertion( "HP:0004326") AnnotationAssertion(rdfs:label "Cachexia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -59707,8 +59700,8 @@ AnnotationAssertion(Annotation( ) "Hyperostosis of skull") AnnotationAssertion(Annotation( ) "Sclerosis of bones of skull") AnnotationAssertion(Annotation( ) "Sclerosis of skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased Mineralization of skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased calcification of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased Mineralization of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased calcification of skull") AnnotationAssertion( "HP:0004330") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Increased skull ossification") @@ -59725,15 +59718,15 @@ AnnotationAssertion( "SNOMEDCT_US:253980008") AnnotationAssertion( "UMLS:C0432073") AnnotationAssertion( "UMLS:C4280533") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased bone formation of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased bone formation of skull") AnnotationAssertion( "Deficient skull ossification") AnnotationAssertion(Annotation( ) "Hypoossification of skull") AnnotationAssertion(Annotation( ) "Ossification defect of skull") AnnotationAssertion( "Poorly mineralized skull") AnnotationAssertion(Annotation( ) "Poorly ossified skull") AnnotationAssertion( "Poorly ossified skull bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased calcification of skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased mineralization of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased calcification of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased mineralization of skull") AnnotationAssertion( "HP:0004331") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Decreased skull ossification") @@ -59786,7 +59779,7 @@ AnnotationAssertion( "UMLS:C0151514") AnnotationAssertion( "Atrophic skin") AnnotationAssertion( "Skin atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin degeneration") AnnotationAssertion( "HP:0004334") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Dermal atrophy") @@ -59945,7 +59938,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C2674432") AnnotationAssertion(Annotation( ) "Decreased bone mineral density") AnnotationAssertion( "Decreased bone mineral density Z score") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Low solidness and mass of the bones") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Low solidness and mass of the bones") AnnotationAssertion( "HP:0004349") AnnotationAssertion(rdfs:label "Reduced bone mineral density") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -60089,7 +60082,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-17T04:15:00Z") AnnotationAssertion( "HP:0040077") AnnotationAssertion(Annotation( ) "Abnormal blood calcium concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood calcium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood calcium levels") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal circulating Ca concentration") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal circulating Ca2+ concentration") AnnotationAssertion( "HP:0004363") @@ -60146,7 +60139,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T06:31:00Z") AnnotationAssertion( "UMLS:C4025332") AnnotationAssertion( "Increased purine level") -AnnotationAssertion(Annotation( ) "Increased purine levels") +AnnotationAssertion(Annotation( ) "Increased purine levels") AnnotationAssertion( "HP:0004368") AnnotationAssertion(rdfs:label "Increased circulating purine concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -60159,7 +60152,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T06:32:00Z") AnnotationAssertion( "UMLS:C4025331") AnnotationAssertion( "Decreased purine level") -AnnotationAssertion(Annotation( ) "Decreased purine levels") +AnnotationAssertion(Annotation( ) "Decreased purine levels") AnnotationAssertion( "HP:0004369") AnnotationAssertion(rdfs:label "Decreased circulating purine concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -60173,9 +60166,9 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001832") AnnotationAssertion( "UMLS:C0005904") AnnotationAssertion( "UMLS:C1832160") -AnnotationAssertion(Annotation( ) "Abnormality of temperature regulation") -AnnotationAssertion(Annotation( ) "Poor temperature regulation") -AnnotationAssertion(Annotation( ) "Body temperature changes") +AnnotationAssertion(Annotation( ) "Abnormality of temperature regulation") +AnnotationAssertion(Annotation( ) "Poor temperature regulation") +AnnotationAssertion(Annotation( ) "Body temperature changes") AnnotationAssertion( "HP:0004370") AnnotationAssertion(rdfs:label "Abnormality of temperature regulation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -60199,9 +60192,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T07:12:00Z") AnnotationAssertion( "SNOMEDCT_US:3006004") AnnotationAssertion( "UMLS:C0234428") -AnnotationAssertion(Annotation( ) "Disturbances of consciousness") -AnnotationAssertion(Annotation( ) "Lowered consciousness") -AnnotationAssertion(Annotation( ) "Reduced consciousness/confusion") +AnnotationAssertion(Annotation( ) "Disturbances of consciousness") +AnnotationAssertion(Annotation( ) "Lowered consciousness") +AnnotationAssertion(Annotation( ) "Reduced consciousness/confusion") AnnotationAssertion( "HP:0004372") AnnotationAssertion(rdfs:label "Reduced consciousness/confusion") SubClassOf( ) @@ -60225,7 +60218,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T07:35:00Z") AnnotationAssertion( "UMLS:C0375206") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Paralysis or weakness of one side of body") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Paralysis or weakness of one side of body") AnnotationAssertion( "HP:0004374") AnnotationAssertion(rdfs:label "Hemiplegia/hemiparesis") SubClassOf( ) @@ -60239,10 +60232,10 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126950007") AnnotationAssertion( "UMLS:C0027766") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the nervous system") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the nervous system") AnnotationAssertion(Annotation( ) "Tumour of the nervous system") AnnotationAssertion( "Neoplasia of the nervous system") -AnnotationAssertion(Annotation( ) Annotation( ) "Nervous system cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Nervous system cancer") AnnotationAssertion( "HP:0004375") AnnotationAssertion(rdfs:label "Neoplasm of the nervous system") SubClassOf( ) @@ -60265,7 +60258,7 @@ SubClassOf( "http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms") "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T07:44:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood tumor") AnnotationAssertion(Annotation( ) "Blood tumour") AnnotationAssertion( "MSH:D019337") AnnotationAssertion( "SNOMEDCT_US:129154003") @@ -60283,7 +60276,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T08:11:00Z") AnnotationAssertion( "UMLS:C4025329") -AnnotationAssertion(Annotation( ) "Abnormality of the anus") +AnnotationAssertion(Annotation( ) "Abnormality of the anus") AnnotationAssertion( "HP:0004378") AnnotationAssertion(rdfs:comment "The anal canal is continuous proximally with the rectum and distally terminates with the anus.") AnnotationAssertion(rdfs:label "Abnormality of the anus") @@ -60360,7 +60353,7 @@ AnnotationAssertion( "UMLS:C0152101") AnnotationAssertion( "Heart left ventricle hypoplasia") AnnotationAssertion( "Left ventricular hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped left heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped left heart") AnnotationAssertion( "HP:0004383") AnnotationAssertion(rdfs:comment "Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes.") AnnotationAssertion(rdfs:label "Hypoplastic left heart") @@ -60401,7 +60394,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:01:00Z") AnnotationAssertion( "UMLS:C1535950") AnnotationAssertion(Annotation( ) "GI inflammation") -AnnotationAssertion(Annotation( ) "Gastrointestinal inflammation") +AnnotationAssertion(Annotation( ) "Gastrointestinal inflammation") AnnotationAssertion( "HP:0004386") AnnotationAssertion(rdfs:label "Gastrointestinal inflammation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -60475,7 +60468,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D011535") AnnotationAssertion( "SNOMEDCT_US:5187006") AnnotationAssertion( "UMLS:C0033770") -AnnotationAssertion(Annotation( ) "Prune belly") +AnnotationAssertion(Annotation( ) "Prune belly") AnnotationAssertion( "HP:0004392") AnnotationAssertion(rdfs:comment "Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles.") AnnotationAssertion(rdfs:label "Prune belly") @@ -60505,7 +60498,7 @@ AnnotationAssertion( "SNOMEDCT_US:65404009") AnnotationAssertion( "SNOMEDCT_US:70241007") AnnotationAssertion( "UMLS:C0162429") -AnnotationAssertion(Annotation( ) "Malnutrition") +AnnotationAssertion(Annotation( ) "Malnutrition") AnnotationAssertion( "HP:0004395") AnnotationAssertion(rdfs:label "Malnutrition") SubClassOf( ) @@ -60517,10 +60510,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:12:00Z") AnnotationAssertion( "SNOMEDCT_US:64379006") AnnotationAssertion( "UMLS:C0232462") -AnnotationAssertion(Annotation( ) "Decreased appetite") +AnnotationAssertion(Annotation( ) "Decreased appetite") AnnotationAssertion( "Loss of appetite") -AnnotationAssertion(Annotation( ) "Poor appetite") -AnnotationAssertion(Annotation( ) "No appetite") +AnnotationAssertion(Annotation( ) "Poor appetite") +AnnotationAssertion(Annotation( ) "No appetite") AnnotationAssertion( "HP:0004396") AnnotationAssertion(rdfs:label "Poor appetite") SubClassOf( ) @@ -60532,7 +60525,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:13:00Z") AnnotationAssertion( "SNOMEDCT_US:5153001") AnnotationAssertion( "UMLS:C0266231") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal anus position") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal anus position") AnnotationAssertion( "Anus malposition") AnnotationAssertion( "HP:0004397") AnnotationAssertion( ) @@ -60548,7 +60541,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D010437") AnnotationAssertion( "SNOMEDCT_US:13200003") AnnotationAssertion( "UMLS:C0030920") -AnnotationAssertion(Annotation( ) Annotation( ) "Sore in the lining of gastrointestinal tract") +AnnotationAssertion(Annotation( ) Annotation( ) "Sore in the lining of gastrointestinal tract") AnnotationAssertion( "HP:0004398") AnnotationAssertion(rdfs:comment "Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists.") AnnotationAssertion(rdfs:label "Peptic ulcer") @@ -60615,7 +60608,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:18:00Z") AnnotationAssertion( "SNOMEDCT_US:700153004") AnnotationAssertion( "UMLS:C3839073") -AnnotationAssertion(Annotation( ) "Abnormality of the nipple") +AnnotationAssertion(Annotation( ) "Abnormality of the nipple") AnnotationAssertion( "HP:0004404") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal nipple morphology") @@ -60627,7 +60620,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-18T09:19:00Z") AnnotationAssertion( "UMLS:C1855513") -AnnotationAssertion(Annotation( ) "Prominent nipples") +AnnotationAssertion(Annotation( ) "Prominent nipples") AnnotationAssertion( "HP:0004405") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Prominent nipples") @@ -60642,8 +60635,8 @@ AnnotationAssertion( "UMLS:C3809715") AnnotationAssertion( "Recurrent epistaxes") AnnotationAssertion( "Recurrent epistaxis") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurring nosebleed") -AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous, recurrent nosebleed") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurring nosebleed") +AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous, recurrent nosebleed") AnnotationAssertion( "HP:0004406") AnnotationAssertion(rdfs:label "Spontaneous, recurrent epistaxis") SubClassOf( ) @@ -60664,10 +60657,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:21:00Z") AnnotationAssertion( "HP:0004410") AnnotationAssertion( "UMLS:C4021655") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal sense of smell") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal sense of smell") AnnotationAssertion( "Abnormality of olfaction") -AnnotationAssertion(Annotation( ) "Abnormality of the sense of smell") -AnnotationAssertion(Annotation( ) "Smell defect") +AnnotationAssertion(Annotation( ) "Abnormality of the sense of smell") +AnnotationAssertion(Annotation( ) "Smell defect") AnnotationAssertion( "HP:0004408") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the sense of smell") @@ -60697,10 +60690,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:23:00Z") AnnotationAssertion( "SNOMEDCT_US:126660000") AnnotationAssertion( "UMLS:C0549397") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked septum of nose") -AnnotationAssertion(Annotation( ) "Deviated nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Deviated septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked septum of nose") +AnnotationAssertion(Annotation( ) "Deviated nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Deviated septum of nose") AnnotationAssertion( "HP:0004411") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Deviated nasal septum") @@ -60715,7 +60708,7 @@ AnnotationAssertion( "SNOMEDCT_US:198914002") AnnotationAssertion( "SNOMEDCT_US:36110001") AnnotationAssertion( "UMLS:C0009681") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of lung artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of lung artery") AnnotationAssertion( "HP:0004414") AnnotationAssertion(rdfs:label "Abnormality of the pulmonary artery") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -60730,7 +60723,7 @@ AnnotationAssertion( "MSH:D000071079") AnnotationAssertion( "SNOMEDCT_US:95441000") AnnotationAssertion( "UMLS:C0238397") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of lung artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of lung artery") AnnotationAssertion( "HP:0004415") AnnotationAssertion(rdfs:comment "Stenosis, or narrowing, of the branches of the pulmonary artery is a type of congenital heart disease that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life.") AnnotationAssertion(rdfs:label "Pulmonary artery stenosis") @@ -60741,7 +60734,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-18T09:28:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature plaque build-up in arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature plaque build-up in arteries") AnnotationAssertion( "UMLS:C4021654") AnnotationAssertion( "UMLS:C4280264") AnnotationAssertion( "Premature atherosclerosis") @@ -60793,7 +60786,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:32:00Z") AnnotationAssertion( "SNOMEDCT_US:65198009") AnnotationAssertion( "UMLS:C0151942") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in artery") AnnotationAssertion( "HP:0004420") AnnotationAssertion(rdfs:label "Arterial thrombosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -60819,7 +60812,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:35:00Z") AnnotationAssertion( "UMLS:C1854418") AnnotationAssertion( "UMLS:C4280532") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of the skull") AnnotationAssertion( "HP:0004422") AnnotationAssertion(rdfs:label "Biparietal narrowing") SubClassOf( ) @@ -60844,8 +60837,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:41:00Z") AnnotationAssertion( "HP:0004659") AnnotationAssertion( "UMLS:C1857485") -AnnotationAssertion(Annotation( ) "Flat forehead") -AnnotationAssertion(Annotation( ) "Flattened forehead") +AnnotationAssertion(Annotation( ) "Flat forehead") +AnnotationAssertion(Annotation( ) "Flattened forehead") AnnotationAssertion(Annotation( ) "Frontal flattening") AnnotationAssertion( "HP:0004425") AnnotationAssertion(rdfs:label "Flat forehead") @@ -60858,11 +60851,11 @@ AnnotationAssertion( ) AnnotationAssertion( "2008-03-18T09:42:00Z") AnnotationAssertion( "UMLS:C4025324") -AnnotationAssertion(Annotation( ) "Abnormality of the cheek") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormality of the cheeks") -AnnotationAssertion(Annotation( ) "Anomaly of the cheeks") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the cheeks") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the cheeks") +AnnotationAssertion(Annotation( ) "Abnormality of the cheek") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormality of the cheeks") +AnnotationAssertion(Annotation( ) "Anomaly of the cheeks") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the cheeks") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the cheeks") AnnotationAssertion( "HP:0004426") AnnotationAssertion(rdfs:label "Abnormal cheek morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -60875,8 +60868,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T09:43:00Z") AnnotationAssertion( "SNOMEDCT_US:69288002") AnnotationAssertion( "UMLS:C0332606") -AnnotationAssertion(Annotation( ) Annotation( ) "Elf-like facial appearance") -AnnotationAssertion(Annotation( ) Annotation( ) "Elf-like facial features") +AnnotationAssertion(Annotation( ) Annotation( ) "Elf-like facial appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Elf-like facial features") AnnotationAssertion(Annotation( ) "Leprechaun facies") AnnotationAssertion( "HP:0004428") AnnotationAssertion( ) @@ -60964,11 +60957,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T09:57:00Z") AnnotationAssertion( "HP:0002698") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of skull bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of skull bones") AnnotationAssertion(Annotation( ) "Hypertrophy of cranial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of skull bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick skull bones") AnnotationAssertion( "UMLS:C1832451") AnnotationAssertion( "UMLS:C4280528") AnnotationAssertion( "UMLS:C4280529") @@ -60992,7 +60985,7 @@ AnnotationAssertion(Annotation( ) "Hypertrophy of the internal surface of the frontal bone") AnnotationAssertion(Annotation( ) "Increased ossification of the internal surface of the frontal bone") AnnotationAssertion(Annotation( ) "Overgrowth of the inside of the frontal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick inner surface of the frontal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick inner surface of the frontal bone") AnnotationAssertion(Annotation( ) "Thick internal surface of the frontal bone") AnnotationAssertion( "MSH:D006957") AnnotationAssertion( "SNOMEDCT_US:82054006") @@ -61052,8 +61045,8 @@ AnnotationAssertion( "UMLS:C0432123") AnnotationAssertion( "Craniosynostosis, sagittal") AnnotationAssertion( "Craniosynostosis, sagittal suture") -AnnotationAssertion(Annotation( ) Annotation( ) "Early closure of midline skull joint") -AnnotationAssertion(Annotation( ) Annotation( ) "Midline skull joint closes early") +AnnotationAssertion(Annotation( ) Annotation( ) "Early closure of midline skull joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Midline skull joint closes early") AnnotationAssertion(Annotation( ) "Sagittal suture synostosis") AnnotationAssertion( "HP:0004442") AnnotationAssertion( ) @@ -61157,9 +61150,9 @@ SubClassOf( ) "A groove of the skin immediately in front of the ear.") AnnotationAssertion( "UMLS:C1852411") AnnotationAssertion( "Preauricular skin furrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Preauricular skin groove") +AnnotationAssertion(Annotation( ) Annotation( ) "Preauricular skin groove") AnnotationAssertion(Annotation( ) "Preauricular skin sulcus") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin groove in front of the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin groove in front of the ear") AnnotationAssertion(Annotation( ) "Skin sulcus in front of the ear") AnnotationAssertion( "HP:0004450") AnnotationAssertion(rdfs:label "Preauricular skin furrow") @@ -61171,7 +61164,7 @@ AnnotationAssertion(Annotation( "UMLS:C4025323") AnnotationAssertion(Annotation( ) "Postauricular acrochordon") AnnotationAssertion(Annotation( ) "Postauricular fibroepithelial polyp") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin tag behind the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin tag behind the ear") AnnotationAssertion( "HP:0004451") AnnotationAssertion(rdfs:label "Postauricular skin tag") SubClassOf( ) @@ -61250,7 +61243,7 @@ SubClassOf( ) "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.") AnnotationAssertion( "SNOMEDCT_US:43887004") AnnotationAssertion( "UMLS:C0395905") -AnnotationAssertion(Annotation( ) Annotation( ) "Pit behind the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Pit behind the ear") AnnotationAssertion(Annotation( ) "Postauricular earpits") AnnotationAssertion( "Postauricular fistula") AnnotationAssertion( "Posterior auricular pit") @@ -61283,7 +61276,7 @@ AnnotationAssertion( "UMLS:C0266625") AnnotationAssertion( "UMLS:C0546969") AnnotationAssertion(Annotation( ) "Ear pit") -AnnotationAssertion(Annotation( ) Annotation( ) "Pit in front of the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Pit in front of the ear") AnnotationAssertion( "Preauricular earpits") AnnotationAssertion( "Preauricular fistulas") AnnotationAssertion( "Preauricular pits") @@ -61336,7 +61329,7 @@ SubClassOf( ) "Hyperostosis (bony overgrowth) of the mandible.") AnnotationAssertion(Annotation( ) "Excessive growth of mandibular bone") AnnotationAssertion(Annotation( ) "Overgrowth of mandibular bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick lower jaw bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick lower jaw bone") AnnotationAssertion(Annotation( ) "Thick mandibular bone") AnnotationAssertion( "UMLS:C4025321") AnnotationAssertion( "UMLS:C4280521") @@ -61388,8 +61381,8 @@ AnnotationAssertion(Annotation( "HP:0000261") AnnotationAssertion( "UMLS:C1859896") AnnotationAssertion( "Macrocephaly, progressive") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally enlarging cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally enlarging skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally enlarging cranium") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressively abnormally enlarging skull") AnnotationAssertion( "HP:0004481") AnnotationAssertion(rdfs:label "Progressive macrocephaly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -61404,7 +61397,7 @@ AnnotationAssertion( "UMLS:C1849075") AnnotationAssertion( "Disproportionately large head") AnnotationAssertion( "Macrocephaly, relative") -AnnotationAssertion(Annotation( ) "Relatively large head") +AnnotationAssertion(Annotation( ) "Relatively large head") AnnotationAssertion( "HP:0004482") AnnotationAssertion(rdfs:label "Relative macrocephaly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -61415,8 +61408,8 @@ SubClassOf( ) "Asymmetry of the bones of the skull and the face.") AnnotationAssertion( "UMLS:C4025320") AnnotationAssertion(Annotation( ) "Uneven craniofacial structures") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of craniofacial shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of craniofacial shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of craniofacial shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of craniofacial shape") AnnotationAssertion( "HP:0004484") AnnotationAssertion(rdfs:label "Craniofacial asymmetry") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -61427,10 +61420,10 @@ SubClassOf( (Cessation of head growth) AnnotationAssertion(Annotation( ) "Stagnation of head growth seen as flattening of the head circumference curve.") -AnnotationAssertion(Annotation( ) Annotation( ) "Skull stopped growing") +AnnotationAssertion(Annotation( ) Annotation( ) "Skull stopped growing") AnnotationAssertion( "UMLS:C4025319") AnnotationAssertion(Annotation( ) "Cranium stopped growing") -AnnotationAssertion(Annotation( ) Annotation( ) "Head stopped growing") +AnnotationAssertion(Annotation( ) Annotation( ) "Head stopped growing") AnnotationAssertion( "HP:0004485") AnnotationAssertion(rdfs:label "Cessation of head growth") SubClassOf( ) @@ -61447,24 +61440,24 @@ SubClassOf( (Macrocephaly at birth) AnnotationAssertion(Annotation( ) "The presence of an abnormally large skull with onset at birth.") -AnnotationAssertion(Annotation( ) Annotation( ) "Big head present at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Big head present since birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Congenital large head") -AnnotationAssertion(Annotation( ) Annotation( ) "Large head present at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Large head present since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Big head present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Big head present since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Congenital large head") +AnnotationAssertion(Annotation( ) Annotation( ) "Large head present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Large head present since birth") AnnotationAssertion( "UMLS:C1836599") AnnotationAssertion(Annotation( ) "Big cranium present at birth") AnnotationAssertion(Annotation( ) "Big cranium present since birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Big skull present at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Big skull present since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Big skull present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Big skull present since birth") AnnotationAssertion(Annotation( ) "Congenital large cranium") AnnotationAssertion(Annotation( ) "Congenital large skull") AnnotationAssertion( "Congenital macrocephaly") AnnotationAssertion( "Head circumference large for gestational age") AnnotationAssertion(Annotation( ) "Large cranium present at birth") AnnotationAssertion(Annotation( ) "Large cranium present since birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Large skull present at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Large skull present since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Large skull present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Large skull present since birth") AnnotationAssertion( "HP:0004488") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Macrocephaly at birth") @@ -61484,7 +61477,7 @@ AnnotationAssertion( "UMLS:C4280520") AnnotationAssertion(Annotation( ) "Hyperostosis of calvarial bones") AnnotationAssertion(Annotation( ) "Increased ossification of calvarial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of skullcap") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of skullcap") AnnotationAssertion( "HP:0004490") AnnotationAssertion(rdfs:comment "The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw.") AnnotationAssertion(rdfs:label "Calvarial hyperostosis") @@ -61517,16 +61510,16 @@ SubClassOf( (Craniofacial hyperostosis) AnnotationAssertion(Annotation( ) "Excessive growth of the craniofacial bones.") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of craniofacial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of craniofacial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of craniofacial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of craniofacial bones") AnnotationAssertion(Annotation( ) "Hypertrophy of craniofacial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of craniofacial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick craniofacial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of craniofacial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick craniofacial bones") AnnotationAssertion( "UMLS:C1868085") AnnotationAssertion( "UMLS:C4280516") AnnotationAssertion( "UMLS:C4280517") AnnotationAssertion( "UMLS:C4280518") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive bone growth of the skull and face") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive bone growth of the skull and face") AnnotationAssertion(Annotation( ) "Hyperostosis of craniofacial bones") AnnotationAssertion(Annotation( ) "Increased ossification of craniofacial bones") AnnotationAssertion( "HP:0004493") @@ -61554,7 +61547,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Chronic rhinitis due to narrow nasal airway) AnnotationAssertion( "UMLS:C4025318") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic nasal inflammation due to narrow nasal airway") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic nasal inflammation due to narrow nasal airway") AnnotationAssertion( "HP:0004499") AnnotationAssertion(rdfs:label "Chronic rhinitis due to narrow nasal airway") SubClassOf( ) @@ -61563,8 +61556,8 @@ SubClassOf( ) "Bilateral absence (atresia) of the posterior nasal aperture (choana).") AnnotationAssertion( "UMLS:C4025317") -AnnotationAssertion(Annotation( ) Annotation( ) "Bilateral blockage of the rear opening of the nasal cavity") -AnnotationAssertion(Annotation( ) Annotation( ) "Bilateral obstruction of the rear opening of the nasal cavity") +AnnotationAssertion(Annotation( ) Annotation( ) "Bilateral blockage of the rear opening of the nasal cavity") +AnnotationAssertion(Annotation( ) Annotation( ) "Bilateral obstruction of the rear opening of the nasal cavity") AnnotationAssertion( "HP:0004502") AnnotationAssertion(rdfs:label "Bilateral choanal atresia") SubClassOf( ) @@ -61590,10 +61583,10 @@ SubClassOf( ) "Increased length of the hairs of the eyebrows.") AnnotationAssertion( "UMLS:C3280131") -AnnotationAssertion(Annotation( ) Annotation( ) "Elongated eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased horizontal length of eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased transverse length of eyebrow") -AnnotationAssertion(Annotation( ) "Long eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Elongated eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased horizontal length of eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased transverse length of eyebrow") +AnnotationAssertion(Annotation( ) "Long eyebrows") AnnotationAssertion( "HP:0004523") AnnotationAssertion(rdfs:label "Long eyebrows") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -61603,7 +61596,7 @@ SubClassOf( ) "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).") AnnotationAssertion( "UMLS:C4025316") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced hair growth in temporal region") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced hair growth in temporal region") AnnotationAssertion( "HP:0004524") AnnotationAssertion(rdfs:label "Temporal hypotrichosis") SubClassOf( ) @@ -61611,7 +61604,7 @@ SubClassOf( (Large clumps of pigment irregularly distributed along hair shaft) AnnotationAssertion( "UMLS:C4025315") -AnnotationAssertion(Annotation( ) "Large clumps of pigment irregularly distributed along hair shaft") +AnnotationAssertion(Annotation( ) "Large clumps of pigment irregularly distributed along hair shaft") AnnotationAssertion( "HP:0004527") AnnotationAssertion(rdfs:label "Large clumps of pigment irregularly distributed along hair shaft") SubClassOf( ) @@ -61684,7 +61677,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "UMLS:C3806301") AnnotationAssertion(Annotation( ) "Cicatricial alopecia") -AnnotationAssertion(Annotation( ) Annotation( ) "Hair loss on scalp from scarring condition") +AnnotationAssertion(Annotation( ) Annotation( ) "Hair loss on scalp from scarring condition") AnnotationAssertion( "HP:0004552") AnnotationAssertion(rdfs:label "Scarring alopecia of scalp") SubClassOf( ) @@ -61735,11 +61728,11 @@ AnnotationAssertion( "UMLS:C4280513") AnnotationAssertion( "UMLS:C4280514") AnnotationAssertion( "UMLS:C4280515") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased density of spinal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased density of spinal bone") AnnotationAssertion(Annotation( ) "Ivory spinal bone") AnnotationAssertion(Annotation( ) "Compact spinal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Concrete spinal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Dense spinal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Concrete spinal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Dense spinal bone") AnnotationAssertion(Annotation( ) "Eburnation of spinal bone") AnnotationAssertion( "Increased spinal bone density Z-score") AnnotationAssertion(Annotation( ) "Sclerosis of spinal bone") @@ -61892,7 +61885,7 @@ SubClassOf( (Hypoplastic sacrum) AnnotationAssertion( "UMLS:C1970816") -AnnotationAssertion(Annotation( ) Annotation( ) "Small sacrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Small sacrum") AnnotationAssertion( "HP:0004590") AnnotationAssertion(rdfs:label "Hypoplastic sacrum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62136,7 +62129,7 @@ SubClassOf( (Decreased cervical spine flexion due to contractures of posterior cervical muscles) -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to touch chin to chest") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to touch chin to chest") AnnotationAssertion( "UMLS:C1839653") AnnotationAssertion( "UMLS:C4280512") AnnotationAssertion( "Contracture of post-cervical muscles") @@ -62158,7 +62151,7 @@ SubClassOf( ) "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.") AnnotationAssertion( "UMLS:C1864361") -AnnotationAssertion(Annotation( ) Annotation( ) "Round mid-back") +AnnotationAssertion(Annotation( ) Annotation( ) "Round mid-back") AnnotationAssertion( "HP:0004633") AnnotationAssertion(rdfs:label "Lower thoracic kyphosis") SubClassOf( ) @@ -62184,7 +62177,7 @@ SubClassOf( (Decreased cervical spine mobility) AnnotationAssertion( "UMLS:C1859692") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck movement") AnnotationAssertion( "HP:0004637") AnnotationAssertion(rdfs:label "Decreased cervical spine mobility") SubClassOf( ) @@ -62206,12 +62199,12 @@ SubClassOf( (Hypoplasia of the nasal bone) AnnotationAssertion(Annotation( ) "Underdevelopment of the nasal bone.") -AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal bone") AnnotationAssertion( "UMLS:C4021651") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of nasal bone") AnnotationAssertion( "Nasal bone hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nasal bone") AnnotationAssertion(Annotation( ) "Hypotrophic nasal bone") AnnotationAssertion( "HP:0004646") AnnotationAssertion(rdfs:label "Hypoplasia of the nasal bone") @@ -62222,14 +62215,14 @@ SubClassOf( (Hypoplasia of facial musculature) AnnotationAssertion(Annotation( ) "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).") -AnnotationAssertion(Annotation( ) Annotation( ) "Small facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Small facial muscles") AnnotationAssertion( "UMLS:C1834042") AnnotationAssertion( "UMLS:C4280509") AnnotationAssertion( "UMLS:C4280510") AnnotationAssertion( "UMLS:C4280511") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of facial musculature") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of facial musculature") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of facial muscles") AnnotationAssertion(Annotation( ) "Atrophy of facial musculature") AnnotationAssertion(Annotation( ) "Hypotrophic facial musculature") AnnotationAssertion( "HP:0004660") @@ -62243,7 +62236,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "UMLS:C1859438") AnnotationAssertion( "Weak frontalis muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of forehead muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of forehead muscle") AnnotationAssertion( "HP:0004661") AnnotationAssertion(rdfs:label "Frontalis muscle weakness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62262,7 +62255,7 @@ SubClassOf( ) "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.") AnnotationAssertion( "UMLS:C1862474") -AnnotationAssertion(Annotation( ) "Decreased facial expression") +AnnotationAssertion(Annotation( ) "Decreased facial expression") AnnotationAssertion( "HP:0004673") AnnotationAssertion(rdfs:label "Decreased facial expression") SubClassOf( ) @@ -62277,7 +62270,7 @@ SubClassOf( (Large tarsal bones) AnnotationAssertion( "UMLS:C1859116") -AnnotationAssertion(Annotation( ) Annotation( ) "Large ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Large ankle bones") AnnotationAssertion( "HP:0004679") AnnotationAssertion(rdfs:label "Large tarsal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62286,7 +62279,7 @@ SubClassOf( (Deep longitudinal plantar crease) AnnotationAssertion(Annotation( "PMID:19125433") "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.") -AnnotationAssertion(Annotation( ) Annotation( ) "Foot crease") +AnnotationAssertion(Annotation( ) Annotation( ) "Foot crease") AnnotationAssertion( "UMLS:C1859223") AnnotationAssertion( "UMLS:C4280508") AnnotationAssertion( "Longitudinal groove on soles") @@ -62311,7 +62304,7 @@ AnnotationAssertion(Annotation( "HP:0010673") AnnotationAssertion( "UMLS:C4021650") AnnotationAssertion( "Hypoplasia of the 3rd metatarsal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 3rd long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 3rd long bone of foot") AnnotationAssertion( "HP:0004686") AnnotationAssertion(rdfs:label "Short third metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62321,7 +62314,7 @@ SubClassOf( (Irregular tarsal bones) AnnotationAssertion( "UMLS:C1855240") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of ankle bones") AnnotationAssertion( "HP:0004688") AnnotationAssertion(rdfs:label "Irregular tarsal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62332,7 +62325,7 @@ SubClassOf( ) "Short fourth metatarsal bone.") AnnotationAssertion( "UMLS:C1848514") AnnotationAssertion( "Bilateral fourth metatarsal shortening") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 4th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 4th long bone of foot") AnnotationAssertion( "Short fourth metatarsus") AnnotationAssertion(Annotation( ) "Short fourth metatarsals") AnnotationAssertion( "HP:0004689") @@ -62345,7 +62338,7 @@ SubClassOf( ) "An abnormal thickening of the Achilles tendon.") AnnotationAssertion( "UMLS:C0919997") -AnnotationAssertion(Annotation( ) "Thickened Achilles tendon") +AnnotationAssertion(Annotation( ) "Thickened Achilles tendon") AnnotationAssertion( "HP:0004690") AnnotationAssertion(rdfs:label "Thickened Achilles tendon") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62370,7 +62363,7 @@ AnnotationAssertion( "2-3 toes syndactyly") AnnotationAssertion( "Syndactyly of second and third toes") AnnotationAssertion(Annotation( ) "Toe syndactyly, 2-3") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd and 3rd toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd and 3rd toes") AnnotationAssertion( "partial or complete syndactyly 2nd-3rd toes") AnnotationAssertion( "HP:0004691") AnnotationAssertion(rdfs:label "2-3 toe syndactyly") @@ -62385,7 +62378,7 @@ AnnotationAssertion( "UMLS:C1837836") AnnotationAssertion( "Symmetric syndactyly, toes 4 and 5") AnnotationAssertion( "Syndactyly of toes 4 and 5") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 4th-5th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 4th-5th toes") AnnotationAssertion( "HP:0004692") AnnotationAssertion(rdfs:label "4-5 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62422,7 +62415,7 @@ AnnotationAssertion( "HP:0010671") AnnotationAssertion( "UMLS:C4021649") AnnotationAssertion( "Hypoplasia of the fifth metatarsal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 5th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 5th long bone of foot") AnnotationAssertion( "HP:0004704") AnnotationAssertion(rdfs:label "Short fifth metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62435,7 +62428,7 @@ AnnotationAssertion(Annotation( "HP:0004730") AnnotationAssertion( "SNOMEDCT_US:49008000") AnnotationAssertion( "UMLS:C0238210") -AnnotationAssertion(Annotation( ) "Abnormal rotation of the kidneys") +AnnotationAssertion(Annotation( ) "Abnormal rotation of the kidneys") AnnotationAssertion( "Malrotation of the kidney") AnnotationAssertion( "HP:0004712") AnnotationAssertion(rdfs:comment "The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation.") @@ -62447,8 +62440,8 @@ SubClassOf( ) "Acute renal failure with resolution of manifestations.") AnnotationAssertion( "UMLS:C1843276") -AnnotationAssertion(Annotation( ) Annotation( ) "Reversible kidney failure") -AnnotationAssertion(Annotation( ) "Reversible renal failure") +AnnotationAssertion(Annotation( ) Annotation( ) "Reversible kidney failure") +AnnotationAssertion(Annotation( ) "Reversible renal failure") AnnotationAssertion( "HP:0004713") AnnotationAssertion(rdfs:label "Reversible renal failure") SubClassOf( ) @@ -62491,7 +62484,7 @@ AnnotationAssertion(Annotation( ) "Ca nephrolithiasis") AnnotationAssertion(Annotation( ) "Ca2+ kidney stone") AnnotationAssertion(Annotation( ) "Ca2+ nephrolithiasis") -AnnotationAssertion(Annotation( ) Annotation( ) "Calcium kidney stone") +AnnotationAssertion(Annotation( ) Annotation( ) "Calcium kidney stone") AnnotationAssertion( "HP:0004724") AnnotationAssertion(rdfs:comment "The overwhelming majority of renal calculi contain calcium.") AnnotationAssertion(rdfs:label "Calcium nephrolithiasis") @@ -62715,8 +62708,8 @@ AnnotationAssertion( "Fyler:1821") AnnotationAssertion( "UMLS:C4082954") AnnotationAssertion(Annotation( ) "Heart right ventricle hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Small right heart chamber") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped right heart chamber") +AnnotationAssertion(Annotation( ) Annotation( ) "Small right heart chamber") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped right heart chamber") AnnotationAssertion( "HP:0004762") AnnotationAssertion(rdfs:label "Hypoplasia of right ventricle") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62726,7 +62719,7 @@ SubClassOf( "PMID:18025404") "An episodic form of supraventricular tachycardia with abrupt onset and termination.") AnnotationAssertion( "HP:0004765") -AnnotationAssertion(Annotation( ) Annotation( ) "Episodic rapid heart beat") +AnnotationAssertion(Annotation( ) Annotation( ) "Episodic rapid heart beat") AnnotationAssertion( "SNOMEDCT_US:67198005") AnnotationAssertion( "UMLS:C0030590") AnnotationAssertion( "UMLS:C4280507") @@ -62750,8 +62743,8 @@ SubClassOf( ) "Decreased number of head hairs per unit area on the anterior region of the scalp.") AnnotationAssertion( "UMLS:C1866246") -AnnotationAssertion(Annotation( ) Annotation( ) "Sparse scalp hair at front of head") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin scalp hair at front of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Sparse scalp hair at front of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin scalp hair at front of head") AnnotationAssertion( "HP:0004768") AnnotationAssertion(rdfs:label "Sparse anterior scalp hair") SubClassOf( ) @@ -62760,7 +62753,7 @@ SubClassOf( (Premature graying of body hair) AnnotationAssertion( "UMLS:C1849125") -AnnotationAssertion(Annotation( ) "Premature graying of body hair") +AnnotationAssertion(Annotation( ) "Premature graying of body hair") AnnotationAssertion(Annotation( ) "Premature greying of body hair") AnnotationAssertion( "HP:0004771") AnnotationAssertion(rdfs:label "Premature graying of body hair") @@ -62771,7 +62764,7 @@ SubClassOf( ) "Fragile, easily breakable scalp hair.") AnnotationAssertion( "HP:0004776") AnnotationAssertion( "UMLS:C4025296") -AnnotationAssertion(Annotation( ) "Brittle scalp hair") +AnnotationAssertion(Annotation( ) "Brittle scalp hair") AnnotationAssertion( "HP:0004779") AnnotationAssertion(rdfs:label "Brittle scalp hair") SubClassOf( ) @@ -62780,8 +62773,8 @@ SubClassOf( ) "Excessive, increased hair growth located in the elbow region.") AnnotationAssertion( "UMLS:C4025295") -AnnotationAssertion(Annotation( ) Annotation( ) "Hairy elbow") -AnnotationAssertion(Annotation( ) Annotation( ) "Hairy elbow syndrome") +AnnotationAssertion(Annotation( ) Annotation( ) "Hairy elbow") +AnnotationAssertion(Annotation( ) Annotation( ) "Hairy elbow syndrome") AnnotationAssertion(Annotation( ) "Hypertrichosis cubiti") AnnotationAssertion(Annotation( "PMID:32005960") "Pilosity of elbow") AnnotationAssertion( "HP:0004780") @@ -62860,8 +62853,8 @@ AnnotationAssertion( "SNOMEDCT_US:267425008") AnnotationAssertion( "SNOMEDCT_US:700094005") AnnotationAssertion( "UMLS:C0022951") -AnnotationAssertion(Annotation( ) "Lactose intolerance") -AnnotationAssertion(Annotation( ) Annotation( ) "Milk intolerance") +AnnotationAssertion(Annotation( ) "Lactose intolerance") +AnnotationAssertion(Annotation( ) Annotation( ) "Milk intolerance") AnnotationAssertion( "HP:0004789") AnnotationAssertion(rdfs:label "Lactose intolerance") SubClassOf( ) @@ -62870,7 +62863,7 @@ SubClassOf( ) "Underdevelopment of the small intestine.") AnnotationAssertion( "UMLS:C4025291") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped small intestine") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped small intestine") AnnotationAssertion( "HP:0004790") AnnotationAssertion(rdfs:label "Hypoplasia of the small intestine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62882,7 +62875,7 @@ SubClassOf( ) "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.") AnnotationAssertion( "SNOMEDCT_US:30811009") AnnotationAssertion( "UMLS:C0151970") -AnnotationAssertion(Annotation( ) Annotation( ) "Esophagus ulcer") +AnnotationAssertion(Annotation( ) Annotation( ) "Esophagus ulcer") AnnotationAssertion(Annotation( ) "Oesophagus ulcer") AnnotationAssertion(Annotation( ) "Oesophagus ulceration") AnnotationAssertion( "HP:0004791") @@ -62926,8 +62919,8 @@ SubClassOf( "SNOMEDCT_US:126765001") AnnotationAssertion( "UMLS:C0236124") AnnotationAssertion(Annotation( ) "GI obstruction") -AnnotationAssertion(Annotation( ) "Gastrointestinal obstruction") -AnnotationAssertion(Annotation( ) Annotation( ) "Obstruction in digestive tract") +AnnotationAssertion(Annotation( ) "Gastrointestinal obstruction") +AnnotationAssertion(Annotation( ) Annotation( ) "Obstruction in digestive tract") AnnotationAssertion( "HP:0004796") AnnotationAssertion(rdfs:label "Gastrointestinal obstruction") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -62947,11 +62940,11 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:715852004") AnnotationAssertion( "UMLS:C1854495") AnnotationAssertion( "UMLS:C4082764") -AnnotationAssertion(Annotation( ) "Recurrent gastrointestinal infections") +AnnotationAssertion(Annotation( ) "Recurrent gastrointestinal infections") AnnotationAssertion(Annotation( ) "Recurrent infection of the GI tract") -AnnotationAssertion(Annotation( ) "Recurrent infection of the gastrointestinal tract") -AnnotationAssertion(Annotation( ) "Gastrointestinal infections") -AnnotationAssertion(Annotation( ) Annotation( ) "Gastrointestinal infections, recurrent") +AnnotationAssertion(Annotation( ) "Recurrent infection of the gastrointestinal tract") +AnnotationAssertion(Annotation( ) "Gastrointestinal infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Gastrointestinal infections, recurrent") AnnotationAssertion( "HP:0004798") AnnotationAssertion(rdfs:label "Recurrent infection of the gastrointestinal tract") SubClassOf( ) @@ -63304,9 +63297,9 @@ SubClassOf( ) "Bleeding that persists longer than the normal time following a surgical procedure.") AnnotationAssertion( "UMLS:C4021646") -AnnotationAssertion(Annotation( ) "Excessive bleeding during surgery") -AnnotationAssertion(Annotation( ) "Prolonged bleeding after surgery") -AnnotationAssertion(Annotation( ) "Protracted bleeding after surgery") +AnnotationAssertion(Annotation( ) "Excessive bleeding during surgery") +AnnotationAssertion(Annotation( ) "Prolonged bleeding after surgery") +AnnotationAssertion(Annotation( ) "Protracted bleeding after surgery") AnnotationAssertion( "HP:0004846") AnnotationAssertion(rdfs:label "Prolonged bleeding after surgery") SubClassOf( ) @@ -63329,7 +63322,7 @@ SubClassOf( ) "Repeated episodes of the formation of a blot clot in a deep vein.") AnnotationAssertion( "SNOMEDCT_US:710167004") AnnotationAssertion( "UMLS:C1735901") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent deep vein blood clot") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent deep vein blood clot") AnnotationAssertion( "Recurrent venous thrombosis") AnnotationAssertion( "HP:0004850") AnnotationAssertion(rdfs:label "Recurrent deep vein thrombosis") @@ -63507,7 +63500,7 @@ SubClassOf( ) "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.") AnnotationAssertion( "UMLS:C0240017") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle weakness between ribs") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle weakness between ribs") AnnotationAssertion( "Dependence on diaphragmatic breathing") AnnotationAssertion( "HP:0004878") AnnotationAssertion(rdfs:label "Intercostal muscle weakness") @@ -63522,7 +63515,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:423427003") AnnotationAssertion( "UMLS:C1828017") AnnotationAssertion( "Episodic hyperventilation") -AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent overbreathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent overbreathing") AnnotationAssertion( "HP:0004879") AnnotationAssertion(rdfs:label "Intermittent hyperventilation") SubClassOf( ) @@ -63538,8 +63531,8 @@ SubClassOf( (Episodic hypoventilation) AnnotationAssertion( "UMLS:C1844946") -AnnotationAssertion(Annotation( ) Annotation( ) "Episodic slow breathing") -AnnotationAssertion(Annotation( ) Annotation( ) "Episodic under breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Episodic slow breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Episodic under breathing") AnnotationAssertion( "HP:0004881") AnnotationAssertion(rdfs:label "Episodic hypoventilation") SubClassOf( ) @@ -63547,7 +63540,7 @@ SubClassOf( (Episodic respiratory distress) AnnotationAssertion( "UMLS:C1844945") -AnnotationAssertion(Annotation( ) Annotation( ) "Episodic difficulty breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Episodic difficulty breathing") AnnotationAssertion( "respiratory distress, episodic") AnnotationAssertion( "HP:0004885") AnnotationAssertion(rdfs:label "Episodic respiratory distress") @@ -63586,7 +63579,7 @@ AnnotationAssertion(Annotation( "HP:0004958") AnnotationAssertion( "UMLS:C3805917") AnnotationAssertion( "Elevated lung artery pressure") -AnnotationAssertion(Annotation( ) Annotation( ) "increased pulmonary artery pressure") +AnnotationAssertion(Annotation( ) Annotation( ) "increased pulmonary artery pressure") AnnotationAssertion( "HP:0004890") AnnotationAssertion(rdfs:label "Elevated pulmonary artery pressure") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -63670,7 +63663,7 @@ AnnotationAssertion( "SNOMEDCT_US:72000004") AnnotationAssertion( "UMLS:C0042842") AnnotationAssertion( "Low levels of vitamin A") -AnnotationAssertion(Annotation( ) "Vitamin A deficiency") +AnnotationAssertion(Annotation( ) "Vitamin A deficiency") AnnotationAssertion( "HP:0004905") AnnotationAssertion(rdfs:label "Reduced circulating vitamin A concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -63735,7 +63728,7 @@ AnnotationAssertion(Annotation( "HP:0004917") AnnotationAssertion( "UMLS:C4021644") AnnotationAssertion( "Episodic infantile hypoglycemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent low blood sugar in infant") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent low blood sugar in infant") AnnotationAssertion( "HP:0004914") AnnotationAssertion(rdfs:label "Recurrent infantile hypoglycemia") SubClassOf( ) @@ -63872,7 +63865,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-26T04:07:00Z") AnnotationAssertion( "UMLS:C4025271") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the lung blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the lung blood vessels") AnnotationAssertion( "HP:0004930") AnnotationAssertion(rdfs:label "Abnormality of the pulmonary vasculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -63882,7 +63875,7 @@ SubClassOf( (Arteriosclerosis of small cerebral arteries) AnnotationAssertion(Annotation( ) "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.") -AnnotationAssertion(Annotation( ) Annotation( ) "Hardened artery wall in small cerebral arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Hardened artery wall in small cerebral arteries") AnnotationAssertion( "UMLS:C4025270") AnnotationAssertion( "UMLS:C4280505") AnnotationAssertion( "HP:0004931") @@ -63932,7 +63925,7 @@ AnnotationAssertion(Annotation( "MSH:D020246") AnnotationAssertion( "SNOMEDCT_US:111293003") AnnotationAssertion( "UMLS:C0042487") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in vein") AnnotationAssertion( "HP:0004936") AnnotationAssertion(rdfs:label "Venous thrombosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -63951,7 +63944,7 @@ SubClassOf( ) "Excessive bending, twisting, and winding of a cerebral artery.") AnnotationAssertion( "UMLS:C1836791") -AnnotationAssertion(Annotation( ) Annotation( ) "Twisted cerebral arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Twisted cerebral arteries") AnnotationAssertion( "HP:0004938") AnnotationAssertion(rdfs:label "Tortuous cerebral arteries") SubClassOf( ) @@ -63987,7 +63980,7 @@ AnnotationAssertion( "SNOMEDCT_US:67362008") AnnotationAssertion( "UMLS:C0003486") AnnotationAssertion( "Aortic dilatation") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulge in wall of large artery that carries blood away from heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulge in wall of large artery that carries blood away from heart") AnnotationAssertion( "HP:0004942") AnnotationAssertion(rdfs:comment "Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym.") AnnotationAssertion(rdfs:label "Aortic aneurysm") @@ -63998,7 +63991,7 @@ SubClassOf( (Accelerated atherosclerosis) AnnotationAssertion(Annotation( "PMID:29040156") "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.") -AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated plaque build-up in arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated plaque build-up in arteries") AnnotationAssertion( "UMLS:C1849618") AnnotationAssertion( "UMLS:C4280504") AnnotationAssertion( "HP:0004943") @@ -64010,7 +64003,7 @@ SubClassOf( ) "The presence of a localized dilatation or ballooning of a cerebral artery.") AnnotationAssertion( "HP:0002618") AnnotationAssertion( "HP:0006816") -AnnotationAssertion(Annotation( ) Annotation( ) "Brain aneurysm") +AnnotationAssertion(Annotation( ) Annotation( ) "Brain aneurysm") AnnotationAssertion( "Intracranial aneurysm") AnnotationAssertion( "MSH:D002532") AnnotationAssertion( "SNOMEDCT_US:128608001") @@ -64051,7 +64044,7 @@ SubClassOf( "PMID:22433458") "Abnormal twisting of arteries or veins.") AnnotationAssertion( "UMLS:C2673776") -AnnotationAssertion(Annotation( ) Annotation( ) "Twisted blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Twisted blood vessels") AnnotationAssertion( "HP:0004948") AnnotationAssertion(rdfs:label "Vascular tortuosity") SubClassOf( ) @@ -64114,7 +64107,7 @@ AnnotationAssertion( "UMLS:C3279191") AnnotationAssertion(Annotation( ) "Generalised arterial tortuosity") AnnotationAssertion(Annotation( ) "Generalised twisted arteries") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized twisted arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized twisted arteries") AnnotationAssertion(Annotation( ) "Arterial tortuosity, general") AnnotationAssertion(Annotation( ) "Arterial tortuosity, generalised") AnnotationAssertion(Annotation( ) "Arterial tortuosity, generalized") @@ -64141,7 +64134,7 @@ SubClassOf( ) Annotation( "PMID:17192541") "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.") AnnotationAssertion( "SNOMEDCT_US:86252004") AnnotationAssertion( "UMLS:C0265905") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent lung artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent lung artery") AnnotationAssertion(Annotation( ) "Missing pulmonary artery") AnnotationAssertion( "HP:0004960") AnnotationAssertion(rdfs:comment "This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP.") @@ -64212,7 +64205,7 @@ AnnotationAssertion(Annotation( "HP:0004957") AnnotationAssertion( "SNOMEDCT_US:253631001") AnnotationAssertion( "UMLS:C0345030") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of peripheral lung artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of peripheral lung artery") AnnotationAssertion( "Peripheral pulmonic stenosis") AnnotationAssertion( "peripheral pulmonary stenosis") AnnotationAssertion( "Occlusion of small pulmonary arteries") @@ -64233,7 +64226,7 @@ AnnotationAssertion( "Aneurysm of the ascending tubular aorta") AnnotationAssertion( "Ascending aortic aneurysm") AnnotationAssertion( "Ascending aortic dilation") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulging of wall of large artery located above heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulging of wall of large artery located above heart") AnnotationAssertion( "Dilatation of ascending aorta") AnnotationAssertion( "HP:0004970") AnnotationAssertion(rdfs:comment "Aneurysm is considered a severe form of dilatation.") @@ -64247,7 +64240,7 @@ AnnotationAssertion(Annotation( "Fyler:2966") AnnotationAssertion( "SNOMEDCT_US:54682008") AnnotationAssertion( "UMLS:C0265910") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lung artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lung artery") AnnotationAssertion(Annotation( ) "Underdeveloped pulmonary artery") AnnotationAssertion( "HP:0004971") AnnotationAssertion(rdfs:label "Pulmonary artery hypoplasia") @@ -64278,7 +64271,7 @@ AnnotationAssertion( "UMLS:C1855895") AnnotationAssertion( "Erlenmeyer flask deformity of distal femur") AnnotationAssertion( "Erlenmeyer flask femora") -AnnotationAssertion(Annotation( ) Annotation( ) "Erlenmeyer flask shaped thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Erlenmeyer flask shaped thighbone") AnnotationAssertion( "HP:0004975") AnnotationAssertion(rdfs:label "Erlenmeyer flask deformity of the femurs") SubClassOf( ) @@ -64311,7 +64304,7 @@ SubClassOf( ) "Abnormally increased density of metaphyseal bone.") AnnotationAssertion( "UMLS:C3552526") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in wide portion of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in wide portion of long bone") AnnotationAssertion( "Sclerotic metaphyses") AnnotationAssertion( "HP:0004979") AnnotationAssertion(rdfs:label "Metaphyseal sclerosis") @@ -64372,7 +64365,7 @@ SubClassOf( ) "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.") AnnotationAssertion( "UMLS:C2675547") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bones with narrow shaft") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bones with narrow shaft") AnnotationAssertion( "HP:0004993") AnnotationAssertion(rdfs:label "Slender long bones with narrow diaphyses") SubClassOf( ) @@ -64401,8 +64394,8 @@ SubClassOf( ) "Absence or underdevelopment of the proximal epiphysis of the femur.") AnnotationAssertion( "UMLS:C4025261") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small end part of innermost thighbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped end part of innermost thighbone") AnnotationAssertion( "HP:0005003") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the capital femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -64423,7 +64416,7 @@ SubClassOf( ) "Congenital onset bending or abnormal curvature of the femur that normalizes with age.") AnnotationAssertion( "UMLS:C1833754") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowing of thighbone at birth, straightening with time") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowing of thighbone at birth, straightening with time") AnnotationAssertion( "HP:0005005") AnnotationAssertion(rdfs:comment "This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement.") AnnotationAssertion(rdfs:label "Femoral bowing present at birth, straightening with time") @@ -64432,7 +64425,7 @@ SubClassOf( (Large joint dislocations) AnnotationAssertion( "UMLS:C4025260") -AnnotationAssertion(Annotation( ) "Large joint dislocations") +AnnotationAssertion(Annotation( ) "Large joint dislocations") AnnotationAssertion( "HP:0005008") AnnotationAssertion(rdfs:label "Large joint dislocations") SubClassOf( ) @@ -64441,7 +64434,7 @@ SubClassOf( ) "The humerus is shortened and displays flaring (widening) of the metaphyses.") AnnotationAssertion( "UMLS:C4025259") -AnnotationAssertion(Annotation( ) Annotation( ) "Dumbbell-shaped long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Dumbbell-shaped long bone in upper arm") AnnotationAssertion( "HP:0005009") AnnotationAssertion(rdfs:label "Dumbbell-shaped humerus") SubClassOf( ) @@ -64484,7 +64477,7 @@ SubClassOf( (Diaphyseal thickening) AnnotationAssertion( "UMLS:C1835473") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of shaft or central part of long bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of shaft or central part of long bones") AnnotationAssertion( "HP:0005019") AnnotationAssertion(rdfs:label "Diaphyseal thickening") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -64493,7 +64486,7 @@ SubClassOf( (Bilateral elbow dislocations) AnnotationAssertion( "UMLS:C3278429") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated elbows on both sides") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated elbows on both sides") AnnotationAssertion( "HP:0005021") AnnotationAssertion(rdfs:label "Bilateral elbow dislocations") SubClassOf( ) @@ -64516,8 +64509,8 @@ SubClassOf( (Widened proximal tibial metaphyses) AnnotationAssertion( "UMLS:C1836187") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost wide portion of shankbone bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost wide portion of shinbone bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost wide portion of shankbone bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost wide portion of shinbone bone") AnnotationAssertion( "HP:0005028") AnnotationAssertion(rdfs:label "Widened proximal tibial metaphyses") SubClassOf( ) @@ -64537,7 +64530,7 @@ SubClassOf( ) "Developmental hypoplasia (shortening) of all phalanges of the foot.") AnnotationAssertion( "UMLS:C4025257") -AnnotationAssertion(Annotation( ) Annotation( ) "Short toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Short toe bones") AnnotationAssertion( "HP:0005035") AnnotationAssertion(rdfs:label "Shortening of all phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -64575,7 +64568,7 @@ SubClassOf( ) "Irregular surface of the normally relatively smooth capital femoral epiphysis.") AnnotationAssertion( "HP:0008806") AnnotationAssertion( "UMLS:C4020825") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of innermost thighbone") AnnotationAssertion( "Irregular proximal femoral epiphyses") AnnotationAssertion( "Irregular capital femoral epiphyses") AnnotationAssertion( "HP:0005041") @@ -64612,7 +64605,7 @@ SubClassOf( (Synostosis of carpal bones) AnnotationAssertion( "UMLS:C1836193") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of wrist bones") AnnotationAssertion( "HP:0005048") AnnotationAssertion(rdfs:label "Synostosis of carpal bones") SubClassOf( ) @@ -64638,7 +64631,7 @@ SubClassOf( (Arthralgia/arthritis) AnnotationAssertion( "UMLS:C4025256") -AnnotationAssertion(Annotation( ) "Joint pain/Joint inflammation") +AnnotationAssertion(Annotation( ) "Joint pain/Joint inflammation") AnnotationAssertion( "HP:0005059") AnnotationAssertion(rdfs:label "Arthralgia/arthritis") SubClassOf( ) @@ -64655,7 +64648,7 @@ SubClassOf( (Fragmented, irregular epiphyses) AnnotationAssertion( "UMLS:C1867494") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmented, irregular end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmented, irregular end part of bone") AnnotationAssertion( "HP:0005063") AnnotationAssertion(rdfs:label "Fragmented, irregular epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -64665,7 +64658,7 @@ SubClassOf( (Cone-shaped epiphyses fused within their metaphyses) AnnotationAssertion( "UMLS:C4025255") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of long bone fused within their wide portion of wide bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of long bone fused within their wide portion of wide bone") AnnotationAssertion( "HP:0005066") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses fused within their metaphyses") SubClassOf( ) @@ -64674,7 +64667,7 @@ SubClassOf( ) "Overgrowth of the proximal part of the fibula.") AnnotationAssertion( "UMLS:C2673395") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of innermost part of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of innermost part of calf bone") AnnotationAssertion( "HP:0005067") AnnotationAssertion(rdfs:label "Proximal fibular overgrowth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -64708,7 +64701,7 @@ SubClassOf( ) "The ability of the wrist joints to move beyond their normal range of motion.") AnnotationAssertion( "UMLS:C1850853") AnnotationAssertion( "Increased laxity of wrists") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased wrist mobility") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased wrist mobility") AnnotationAssertion( "HP:0005072") AnnotationAssertion(rdfs:label "Hyperextensibility at wrists") SubClassOf( ) @@ -64765,7 +64758,7 @@ SubClassOf( ) "The presence of streaks (bands) of abnormally increased density of metaphyseal bone.") AnnotationAssertion( "UMLS:C4025253") -AnnotationAssertion(Annotation( ) Annotation( ) "Streak increase in bone density in wide portion of wide bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Streak increase in bone density in wide portion of wide bone") AnnotationAssertion( "HP:0005092") AnnotationAssertion(rdfs:label "Streaky metaphyseal sclerosis") SubClassOf( ) @@ -64817,10 +64810,10 @@ AnnotationAssertion( "SNOMEDCT_US:232326009") AnnotationAssertion( "SNOMEDCT_US:48758008") AnnotationAssertion( "UMLS:C0018780") -AnnotationAssertion(Annotation( ) "Hearing loss, high-frequency") -AnnotationAssertion(Annotation( ) "High frequency hearing loss") +AnnotationAssertion(Annotation( ) "Hearing loss, high-frequency") +AnnotationAssertion(Annotation( ) "High frequency hearing loss") AnnotationAssertion( "High-frequency deafness") -AnnotationAssertion(Annotation( ) "Progressive high frequency hearing loss") +AnnotationAssertion(Annotation( ) "Progressive high frequency hearing loss") AnnotationAssertion( "Progressive high-frequency hearing loss") AnnotationAssertion( "HP:0005101") AnnotationAssertion(rdfs:comment "High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally.") @@ -64864,11 +64857,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-25T05:15:00Z") AnnotationAssertion( "UMLS:C1861328") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of septum of nose") AnnotationAssertion(Annotation( ) "Hypoplasia of septum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Small septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Small septum of nose") AnnotationAssertion( "HP:0005104") AnnotationAssertion(rdfs:label "Hypoplastic nasal septum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -64882,8 +64875,8 @@ AnnotationAssertion( "UMLS:C4025252") AnnotationAssertion(Annotation( ) "Abnormal nose morphology") AnnotationAssertion(Annotation( ) "Abnormal of morphology of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal of nasal shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal of shape of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal of nasal shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal of shape of nose") AnnotationAssertion( "HP:0005105") AnnotationAssertion(rdfs:comment "This is a category for overall abnormal morphology that may be replaced later with more exact descriptions.") AnnotationAssertion(rdfs:label "Abnormal nasal morphology") @@ -64936,7 +64929,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-25T06:21:00Z") AnnotationAssertion( "UMLS:C4021642") -AnnotationAssertion(Annotation( ) "Abnormality of the Achilles tendon") +AnnotationAssertion(Annotation( ) "Abnormality of the Achilles tendon") AnnotationAssertion( "Abnormality of the calcaneal tendon") AnnotationAssertion( "HP:0005109") AnnotationAssertion(rdfs:label "Abnormality of the Achilles tendon") @@ -64954,7 +64947,7 @@ AnnotationAssertion( "MSH:D001281") AnnotationAssertion( "SNOMEDCT_US:49436004") AnnotationAssertion( "UMLS:C0004238") -AnnotationAssertion(Annotation( ) Annotation( ) "Quivering upper heart chambers resulting in irregular heartbeat") +AnnotationAssertion(Annotation( ) Annotation( ) "Quivering upper heart chambers resulting in irregular heartbeat") AnnotationAssertion( "HP:0005110") AnnotationAssertion(rdfs:comment "The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately.") AnnotationAssertion(rdfs:label "Atrial fibrillation") @@ -65045,7 +65038,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-26T04:12:00Z") AnnotationAssertion( "UMLS:C4025246") AnnotationAssertion( "Abnormality of cardiac atrium morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of heart atrium") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of heart atrium") AnnotationAssertion( "HP:0005120") AnnotationAssertion(rdfs:label "Abnormal cardiac atrium morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -65163,7 +65156,7 @@ AnnotationAssertion( "MSH:D023921") AnnotationAssertion( "SNOMEDCT_US:233970002") AnnotationAssertion( "UMLS:C0242231") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of coronary artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of coronary artery") AnnotationAssertion( "HP:0005145") AnnotationAssertion(rdfs:label "Coronary artery stenosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -65379,7 +65372,7 @@ SubClassOf( (Premature arteriosclerosis) AnnotationAssertion(Annotation( ) "Arteriosclerosis occurring at an age that is younger than usual.") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature hardening of arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature hardening of arteries") AnnotationAssertion( "UMLS:C1848486") AnnotationAssertion( "UMLS:C4280503") AnnotationAssertion( "HP:0005177") @@ -65415,7 +65408,7 @@ SubClassOf( "PMID:28070240") "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.") AnnotationAssertion( "UMLS:C1867743") -AnnotationAssertion(Annotation( ) "Premature coronary artery disease") +AnnotationAssertion(Annotation( ) "Premature coronary artery disease") AnnotationAssertion( "HP:0005181") AnnotationAssertion(rdfs:label "Premature coronary artery atherosclerosis") SubClassOf( ) @@ -65489,7 +65482,7 @@ SubClassOf( "SNOMEDCT_US:59068006") AnnotationAssertion( "UMLS:C0265669") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated knee since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated knee since birth") AnnotationAssertion( "HP:0005191") AnnotationAssertion(rdfs:label "Congenital knee dislocation") SubClassOf( ) @@ -65505,7 +65498,7 @@ SubClassOf( ) "Abnormally flat shape of the heads of the metatarsal bones.") AnnotationAssertion( "UMLS:C4025240") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened head of long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened head of long bone of foot") AnnotationAssertion( "HP:0005194") AnnotationAssertion(rdfs:comment "The metatarsal heads articulate with the proximal phalanges of the toes.") AnnotationAssertion(rdfs:label "Flattened metatarsal heads") @@ -65531,7 +65524,7 @@ SubClassOf( ) "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.") AnnotationAssertion( "UMLS:C4025237") -AnnotationAssertion(Annotation( ) Annotation( ) "Stiff hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Stiff hinge joints") AnnotationAssertion( "HP:0005198") AnnotationAssertion(rdfs:label "Stiff interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -65600,7 +65593,7 @@ SubClassOf( (Gastric hypertrophy) AnnotationAssertion(Annotation( ) "Hypertrophy of the stomach.") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased stomach size") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased stomach size") AnnotationAssertion( "UMLS:C1834341") AnnotationAssertion( "UMLS:C4280502") AnnotationAssertion( "HP:0005207") @@ -65673,9 +65666,9 @@ AnnotationAssertion( "MSH:D007415") AnnotationAssertion( "SNOMEDCT_US:81060008") AnnotationAssertion( "UMLS:C0021843") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowel obstruction") -AnnotationAssertion(Annotation( ) Annotation( ) "Intestinal blockage") -AnnotationAssertion(Annotation( ) "Intestinal obstruction") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowel obstruction") +AnnotationAssertion(Annotation( ) Annotation( ) "Intestinal blockage") +AnnotationAssertion(Annotation( ) "Intestinal obstruction") AnnotationAssertion( "HP:0005214") AnnotationAssertion(rdfs:label "Intestinal obstruction") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -65695,9 +65688,9 @@ SubClassOf( "PMID:23713640") "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.") AnnotationAssertion( "SNOMEDCT_US:162020001") AnnotationAssertion( "UMLS:C0239043") -AnnotationAssertion(Annotation( ) "Chewing difficulties") -AnnotationAssertion(Annotation( ) "Chewing difficulty") -AnnotationAssertion(Annotation( ) "Difficulty chewing") +AnnotationAssertion(Annotation( ) "Chewing difficulties") +AnnotationAssertion(Annotation( ) "Chewing difficulty") +AnnotationAssertion(Annotation( ) "Difficulty chewing") AnnotationAssertion( "HP:0005216") AnnotationAssertion(rdfs:comment "Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia.") AnnotationAssertion(rdfs:label "Impaired mastication") @@ -65942,7 +65935,7 @@ SubClassOf( (Gastrointestinal infarctions) AnnotationAssertion( "UMLS:C3152231") -AnnotationAssertion(Annotation( ) Annotation( ) "Death of digestive organ tissue due to poor blood supply") +AnnotationAssertion(Annotation( ) Annotation( ) "Death of digestive organ tissue due to poor blood supply") AnnotationAssertion(Annotation( ) "GI infarctions") AnnotationAssertion( "HP:0005244") AnnotationAssertion(rdfs:label "Gastrointestinal infarctions") @@ -65954,7 +65947,7 @@ SubClassOf( ) "Developmental hypoplasia of the intestine.") AnnotationAssertion( "UMLS:C4021640") AnnotationAssertion( "Hypoplastic intestines") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped instestine") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped instestine") AnnotationAssertion( "HP:0005245") AnnotationAssertion(rdfs:label "Intestinal hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66019,8 +66012,8 @@ SubClassOf( (Unilateral chest hypoplasia) AnnotationAssertion( "UMLS:C1845576") -AnnotationAssertion(Annotation( ) Annotation( ) "Small chest on one side") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped chest on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Small chest on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped chest on one side") AnnotationAssertion( "HP:0005254") AnnotationAssertion(rdfs:label "Unilateral chest hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66050,8 +66043,8 @@ SubClassOf( "HP:0001590") AnnotationAssertion( "UMLS:C1837482") -AnnotationAssertion(Annotation( ) "Small chest") -AnnotationAssertion(Annotation( ) "Small thorax") +AnnotationAssertion(Annotation( ) "Small chest") +AnnotationAssertion(Annotation( ) "Small thorax") AnnotationAssertion( "HP:0005257") AnnotationAssertion(rdfs:label "Thoracic hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66060,8 +66053,8 @@ SubClassOf( (Pectoral muscle hypoplasia/aplasia) AnnotationAssertion( "UMLS:C4025226") -AnnotationAssertion(Annotation( ) Annotation( ) "Small/absent pec muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped/absent pec muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Small/absent pec muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped/absent pec muscle") AnnotationAssertion( "HP:0005258") AnnotationAssertion(rdfs:label "Pectoral muscle hypoplasia/aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66086,9 +66079,9 @@ AnnotationAssertion( "MSH:D006395") AnnotationAssertion( "SNOMEDCT_US:81808003") AnnotationAssertion( "UMLS:C0018924") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding within a joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding within a joint") AnnotationAssertion( "Hemarthroses") -AnnotationAssertion(Annotation( ) "Hemarthrosis") +AnnotationAssertion(Annotation( ) "Hemarthrosis") AnnotationAssertion( "Joint haemorrhage") AnnotationAssertion(Annotation( ) "Spontaneous joint haemorrhage") AnnotationAssertion( "Spontaneous joint hemorrhage") @@ -66118,7 +66111,7 @@ AnnotationAssertion(Annotation(rdfs:label "Gastritis") "MSH:D005756") AnnotationAssertion( "SNOMEDCT_US:4556007") AnnotationAssertion( "UMLS:C0017152") -AnnotationAssertion(Annotation( ) Annotation( ) "Stomach inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Stomach inflammation") AnnotationAssertion( "HP:0005263") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Gastritis") @@ -66133,7 +66126,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:253803008") AnnotationAssertion( "SNOMEDCT_US:49714001") AnnotationAssertion( "UMLS:C0266249") -AnnotationAssertion(Annotation( ) "Abnormality of the gallbladder") +AnnotationAssertion(Annotation( ) "Abnormality of the gallbladder") AnnotationAssertion( "Anomaly of the gallbladder") AnnotationAssertion( "HP:0005264") AnnotationAssertion(rdfs:label "Abnormality of the gallbladder") @@ -66192,15 +66185,15 @@ SubClassOf( "PMID:19125428") "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).") AnnotationAssertion( "UMLS:C1866487") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep laugh lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep laugh lines") AnnotationAssertion(Annotation( ) "Deep nasolabial crease") AnnotationAssertion(Annotation( ) "Deep nasolabial fold") AnnotationAssertion(Annotation( ) "Deep nasolabial groove") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep smile lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep smile lines") AnnotationAssertion( "Nasolabial crease, prominent") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent laugh lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent laugh lines") AnnotationAssertion(Annotation( ) "Prominent nasolabial groove") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent smile lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent smile lines") AnnotationAssertion( "HP:0005272") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Prominent nasolabial fold") @@ -66211,10 +66204,10 @@ SubClassOf( ) "Lack of the cartilage of the nasal septum.") AnnotationAssertion( "UMLS:C4021638") AnnotationAssertion( "UMLS:C4280501") -AnnotationAssertion(Annotation( ) "Absent nasal septal cartilage") -AnnotationAssertion(Annotation( ) "Absent nasal septum") +AnnotationAssertion(Annotation( ) "Absent nasal septal cartilage") +AnnotationAssertion(Annotation( ) "Absent nasal septum") AnnotationAssertion(Annotation( ) "Ageneis of nasal septal cartilage") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nasal septal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nasal septal cartilage") AnnotationAssertion( "HP:0005273") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Absent nasal septal cartilage") @@ -66228,13 +66221,13 @@ AnnotationAssertion( "UMLS:C4280498") AnnotationAssertion( "UMLS:C4280499") AnnotationAssertion( "UMLS:C4280500") -AnnotationAssertion(Annotation( ) Annotation( ) "Large nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Large tip of nose") -AnnotationAssertion(Annotation( ) "Prominent nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulbous tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Large nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Large tip of nose") +AnnotationAssertion(Annotation( ) "Prominent nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulbous tip of nose") AnnotationAssertion(Annotation( ) "Hyperplasia of nasal tip") AnnotationAssertion(Annotation( ) "Hyperplasia of tip of nose") AnnotationAssertion(Annotation( ) "Hypertrophy of nasal tip") @@ -66258,15 +66251,15 @@ SubClassOf( "UMLS:C1844731") AnnotationAssertion( "UMLS:C4280496") AnnotationAssertion( "UMLS:C4280497") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of tip of nose") AnnotationAssertion(Annotation( ) "Hypoplasia of tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Small tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Small tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of tip of nose") AnnotationAssertion(Annotation( ) "Aplasia of nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficient nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficient nasal tip") AnnotationAssertion(Annotation( ) "Hypotrophic nasal tip") AnnotationAssertion(Annotation( ) "Hypotrophic tip of nose") AnnotationAssertion( "HP:0005278") @@ -66290,20 +66283,20 @@ AnnotationAssertion( "UMLS:C1836542") AnnotationAssertion( "UMLS:C3550546") AnnotationAssertion( "UMLS:C4280495") -AnnotationAssertion(Annotation( ) Annotation( ) "Depressed bridge of nose") -AnnotationAssertion(Annotation( ) "Depressed nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Depressed bridge of nose") +AnnotationAssertion(Annotation( ) "Depressed nasal bridge") AnnotationAssertion( "Depressed nasal root") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat bridge of nose") -AnnotationAssertion(Annotation( ) "Flat nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat bridge of nose") +AnnotationAssertion(Annotation( ) "Flat nasal bridge") AnnotationAssertion( "Flat nasal root") -AnnotationAssertion(Annotation( ) "Flat, nasal bridge") -AnnotationAssertion(Annotation( ) "Flattened nasal bridge") -AnnotationAssertion(Annotation( ) "Low nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Low nasal root") +AnnotationAssertion(Annotation( ) "Flat, nasal bridge") +AnnotationAssertion(Annotation( ) "Flattened nasal bridge") +AnnotationAssertion(Annotation( ) "Low nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Low nasal root") AnnotationAssertion(Annotation( ) "Retruded bridge of nose") AnnotationAssertion(Annotation( ) "Retruded nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Concave bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Concave nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Concave bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Concave nasal bridge") AnnotationAssertion(Annotation( ) "Depressed nasal root/bridge") AnnotationAssertion( "HP:0005280") AnnotationAssertion( ) @@ -66317,10 +66310,10 @@ SubClassOf( "UMLS:C1865597") AnnotationAssertion( "UMLS:C4280494") AnnotationAssertion(Annotation( ) "Decreased size of bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nasal bridge") AnnotationAssertion(Annotation( ) "Hypoplastic bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Small bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Small bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Small nasal bridge") AnnotationAssertion(Annotation( ) "Hypotrophic bridge of nose") AnnotationAssertion(Annotation( ) "Hypotrophic nasal bridge") AnnotationAssertion( "HP:0005281") @@ -66331,12 +66324,12 @@ SubClassOf( (Absent nasal bridge) AnnotationAssertion( "UMLS:C1837888") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bridge of nose") -AnnotationAssertion(Annotation( ) "Absent nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bridge of nose") +AnnotationAssertion(Annotation( ) "Absent nasal bridge") AnnotationAssertion(Annotation( ) "Agenesis of bridge of nose") AnnotationAssertion(Annotation( ) "Agenesis of nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing bridge of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing nasal bridge") AnnotationAssertion( "HP:0005285") AnnotationAssertion(rdfs:label "Absent nasal bridge") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66350,12 +66343,12 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021637") AnnotationAssertion( "Abnormal naris morphology") AnnotationAssertion( "Abnormality of the nares") -AnnotationAssertion(Annotation( ) "Abnormality of the nostrils") +AnnotationAssertion(Annotation( ) "Abnormality of the nostrils") AnnotationAssertion(Annotation( ) "Anomaly of the nares") AnnotationAssertion(Annotation( ) "Deformity of the nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nostrils") AnnotationAssertion(Annotation( ) "Malformation of the nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nostrils") AnnotationAssertion( "HP:0005288") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal nostril morphology") @@ -66381,9 +66374,9 @@ AnnotationAssertion( "UMLS:C4280491") AnnotationAssertion( "UMLS:C4280492") AnnotationAssertion( "UMLS:C4280493") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of internal carotid artery") -AnnotationAssertion(Annotation( ) Annotation( ) "Small internal carotid artery") -AnnotationAssertion(Annotation( ) Annotation( ) "Aplasia of internal carotid artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of internal carotid artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Small internal carotid artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Aplasia of internal carotid artery") AnnotationAssertion(Annotation( ) "Deficiency of internal carotid artery") AnnotationAssertion(Annotation( ) "Hypotrophic internal carotid artery") AnnotationAssertion( "HP:0005290") @@ -66410,7 +66403,7 @@ SubClassOf( "MSH:D014689") AnnotationAssertion( "SNOMEDCT_US:20696009") AnnotationAssertion( "UMLS:C0042485") -AnnotationAssertion(Annotation( ) Annotation( ) "Poorly functioning veins") +AnnotationAssertion(Annotation( ) Annotation( ) "Poorly functioning veins") AnnotationAssertion( "HP:0005293") AnnotationAssertion(rdfs:label "Venous insufficiency") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66508,7 +66501,7 @@ SubClassOf( (Hypoplastic pulmonary veins) AnnotationAssertion( "UMLS:C1970501") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lung veins") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lung veins") AnnotationAssertion( "HP:0005304") AnnotationAssertion(rdfs:label "Hypoplastic pulmonary veins") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66519,7 +66512,7 @@ SubClassOf( ) "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.") AnnotationAssertion( "SNOMEDCT_US:95455008") AnnotationAssertion( "UMLS:C0151945") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in cerebral vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in cerebral vein") AnnotationAssertion( "Cerebral thrombosis") AnnotationAssertion( "Cerebral vein thrombosis") AnnotationAssertion( "HP:0005305") @@ -66538,7 +66531,7 @@ AnnotationAssertion( "SNOMEDCT_US:83343001") AnnotationAssertion( "UMLS:C0206733") AnnotationAssertion(Annotation( ) "Capillary hemangiomata") -AnnotationAssertion(Annotation( ) Annotation( ) "Strawberry birthmark") +AnnotationAssertion(Annotation( ) Annotation( ) "Strawberry birthmark") AnnotationAssertion( "HP:0005306") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Capillary hemangioma") @@ -66578,7 +66571,7 @@ SubClassOf( "A developmental defect characterized by the lack of formation of the pulmonary blood vessels.") AnnotationAssertion( "UMLS:C1970630") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent lung vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent lung vessels") AnnotationAssertion( "HP:0005311") AnnotationAssertion(rdfs:label "Agenesis of pulmonary vessels") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66648,7 +66641,7 @@ SubClassOf( (Lack of facial subcutaneous fat) AnnotationAssertion( "UMLS:C3277426") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of facial fat below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of facial fat below the skin") AnnotationAssertion( "HP:0005320") AnnotationAssertion(rdfs:label "Lack of facial subcutaneous fat") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -66670,12 +66663,12 @@ SubClassOf( "UMLS:C4025216") AnnotationAssertion( "UMLS:C4280489") AnnotationAssertion( "UMLS:C4280490") -AnnotationAssertion(Annotation( ) "Prominent nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent septum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Low hanging nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Low hanging septum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Visible nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Visible septum of nose") +AnnotationAssertion(Annotation( ) "Prominent nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Low hanging nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Low hanging septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Visible nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Visible septum of nose") AnnotationAssertion( "HP:0005322") AnnotationAssertion(rdfs:label "Prominent nasal septum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66690,12 +66683,12 @@ AnnotationAssertion( "SNOMEDCT_US:697962004") AnnotationAssertion( "UMLS:C0016719") AnnotationAssertion( "UMLS:C1399354") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of half of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of half of face") AnnotationAssertion(Annotation( ) "Facial hemihypertophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Hemifacial enlargement") -AnnotationAssertion(Annotation( ) Annotation( ) "Hypertrophy of half of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Increase in size of half of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of half of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Hemifacial enlargement") +AnnotationAssertion(Annotation( ) Annotation( ) "Hypertrophy of half of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Increase in size of half of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of half of face") AnnotationAssertion(Annotation( ) "Facial hemihyperplasia") AnnotationAssertion(Annotation( ) "Friedreich's disease") AnnotationAssertion( "HP:0005323") @@ -66707,7 +66700,7 @@ SubClassOf( ) "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.") AnnotationAssertion( "UMLS:C4025215") -AnnotationAssertion(Annotation( ) "Disturbance of facial expression") +AnnotationAssertion(Annotation( ) "Disturbance of facial expression") AnnotationAssertion( "HP:0005324") AnnotationAssertion(rdfs:label "Disturbance of facial expression") SubClassOf( ) @@ -66735,7 +66728,7 @@ SubClassOf( (Loss of facial expression) AnnotationAssertion( "UMLS:C1852476") -AnnotationAssertion(Annotation( ) "Loss of facial expression") +AnnotationAssertion(Annotation( ) "Loss of facial expression") AnnotationAssertion( "HP:0005327") AnnotationAssertion(rdfs:label "Loss of facial expression") SubClassOf( ) @@ -66747,7 +66740,7 @@ AnnotationAssertion( "HP:0005333") AnnotationAssertion( "UMLS:C1857710") AnnotationAssertion( "Aged facial appearance") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature aged appearance") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature aged appearance") AnnotationAssertion( "Prematurely aged face") AnnotationAssertion( "Prematurely aged facial appearance") AnnotationAssertion( "Wizened face") @@ -66758,8 +66751,8 @@ SubClassOf( (Fixed facial expression) AnnotationAssertion( "UMLS:C1855353") -AnnotationAssertion(Annotation( ) "Fixed facial expression") -AnnotationAssertion(Annotation( ) Annotation( ) "Unchanging facial expression") +AnnotationAssertion(Annotation( ) "Fixed facial expression") +AnnotationAssertion(Annotation( ) Annotation( ) "Unchanging facial expression") AnnotationAssertion( "HP:0005329") AnnotationAssertion(rdfs:label "Fixed facial expression") SubClassOf( ) @@ -66777,7 +66770,7 @@ SubClassOf( (Sleepy facial expression) AnnotationAssertion( "UMLS:C4025214") -AnnotationAssertion(Annotation( ) "Sleepy facial expression") +AnnotationAssertion(Annotation( ) "Sleepy facial expression") AnnotationAssertion(Annotation( ) "Somnolent facial expression") AnnotationAssertion( "HP:0005335") AnnotationAssertion(rdfs:label "Sleepy facial expression") @@ -66786,7 +66779,7 @@ SubClassOf( (Forehead hyperpigmentation) AnnotationAssertion( "UMLS:C1969673") -AnnotationAssertion(Annotation( ) Annotation( ) "Darkening of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Darkening of the forehead") AnnotationAssertion( "HP:0005336") AnnotationAssertion(rdfs:label "Forehead hyperpigmentation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -66803,7 +66796,7 @@ AnnotationAssertion( "Lateral thinning of eyebrows") AnnotationAssertion( "Laterally sparse eyebrow") AnnotationAssertion(Annotation( ) "Laterally sparse eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited hair on end of eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited hair on end of eyebrow") AnnotationAssertion(Annotation( ) "Sparse lateral eyebrows") AnnotationAssertion( "HP:0005338") AnnotationAssertion( ) @@ -66845,7 +66838,7 @@ AnnotationAssertion(Annotation( "HP:0005342") AnnotationAssertion( "UMLS:C1855335") AnnotationAssertion( "Hypoplastic bladder") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped bladder") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped bladder") AnnotationAssertion( "HP:0005343") AnnotationAssertion(rdfs:label "Hypoplasia of the bladder") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -66882,7 +66875,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-26T06:44:00Z") AnnotationAssertion( "UMLS:C4025209") -AnnotationAssertion(Annotation( ) "Abnormal facial expression") +AnnotationAssertion(Annotation( ) "Abnormal facial expression") AnnotationAssertion( "HP:0005346") AnnotationAssertion(rdfs:label "Abnormal facial expression") SubClassOf( ) @@ -66920,7 +66913,7 @@ SubClassOf( "PMID:18755723") "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.") AnnotationAssertion( "UMLS:C4025208") -AnnotationAssertion(Annotation( ) "Severe T-cell immunodeficiency") +AnnotationAssertion(Annotation( ) "Severe T-cell immunodeficiency") AnnotationAssertion( "HP:0005352") AnnotationAssertion(rdfs:comment "Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS).") AnnotationAssertion(rdfs:label "Severe T-cell immunodeficiency") @@ -66930,7 +66923,7 @@ SubClassOf( "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.") AnnotationAssertion( "UMLS:C4025207") -AnnotationAssertion(Annotation( ) "Susceptibility to herpesvirus") +AnnotationAssertion(Annotation( ) "Susceptibility to herpesvirus") AnnotationAssertion( "HP:0005353") AnnotationAssertion(rdfs:label "Recurrent herpes") SubClassOf( ) @@ -66969,7 +66962,7 @@ AnnotationAssertion( "SNOMEDCT_US:702623002") AnnotationAssertion( "SNOMEDCT_US:91918005") AnnotationAssertion( "UMLS:C0685894") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent thymus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent thymus") AnnotationAssertion( "Athymia") AnnotationAssertion( "Absent thymic shadow") AnnotationAssertion( "Lack of thymic shadow") @@ -67047,8 +67040,8 @@ SubClassOf( ) "An abnormality of the physiological functioning of B cells.") AnnotationAssertion( "HP:0005398") AnnotationAssertion( "UMLS:C1849242") -AnnotationAssertion(Annotation( ) "Abnormality of B cell physiology") -AnnotationAssertion(Annotation( ) "Reduced B cell function") +AnnotationAssertion(Annotation( ) "Abnormality of B cell physiology") +AnnotationAssertion(Annotation( ) "Reduced B cell function") AnnotationAssertion( "HP:0005372") AnnotationAssertion(rdfs:comment "This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells.") AnnotationAssertion(rdfs:label "Abnormality of B cell physiology") @@ -67093,7 +67086,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.") AnnotationAssertion( "HP:0005414") AnnotationAssertion( "UMLS:C1970263") -AnnotationAssertion(Annotation( ) "Increased susceptibility to neisseria meningitidis infections") +AnnotationAssertion(Annotation( ) "Increased susceptibility to neisseria meningitidis infections") AnnotationAssertion( "HP:0005381") AnnotationAssertion(rdfs:label "Recurrent meningococcal disease") SubClassOf( ) @@ -67192,8 +67185,8 @@ AnnotationAssertion( ) "Decrease in T cell count") AnnotationAssertion( "Decrease in T cell number") AnnotationAssertion( "Decreased numbers of circulating T cells") -AnnotationAssertion(Annotation( ) "Low T cell count") -AnnotationAssertion(Annotation( ) "Reduced number of T cells") +AnnotationAssertion(Annotation( ) "Low T cell count") +AnnotationAssertion(Annotation( ) "Reduced number of T cells") AnnotationAssertion( "HP:0005403") AnnotationAssertion(rdfs:label "T lymphocytopenia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -67218,7 +67211,7 @@ SubClassOf( ) "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.") AnnotationAssertion( "HP:0000983") AnnotationAssertion( "UMLS:C1835686") -AnnotationAssertion(Annotation( ) "Recurrent bacterial skin infections") +AnnotationAssertion(Annotation( ) "Recurrent bacterial skin infections") AnnotationAssertion( "Recurrent cutaneous pyogenic infections") AnnotationAssertion( "Recurrent episodes of impetigo") AnnotationAssertion( "Recurrent episodes of infectious dermatitis") @@ -67363,7 +67356,7 @@ SubClassOf( ) "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.") AnnotationAssertion( "UMLS:C1846546") AnnotationAssertion( "Chronic sinopulmonary infection") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent sinus and lung infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent sinus and lung infections") AnnotationAssertion( "HP:0005425") AnnotationAssertion(rdfs:label "Recurrent sinopulmonary infections") SubClassOf( ) @@ -67415,8 +67408,8 @@ AnnotationAssertion( "HP:0005383") AnnotationAssertion( "HP:0005409") AnnotationAssertion( "UMLS:C1860127") -AnnotationAssertion(Annotation( ) "Impaired T cell function") -AnnotationAssertion(Annotation( ) "T-cell dysfunction") +AnnotationAssertion(Annotation( ) "Impaired T cell function") +AnnotationAssertion(Annotation( ) "T-cell dysfunction") AnnotationAssertion( "HP:0005435") AnnotationAssertion(rdfs:label "Impaired T cell function") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -67596,24 +67589,24 @@ SubClassOf( ) "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.") AnnotationAssertion( "HP:0008508") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of facial skeleton") AnnotationAssertion(Annotation( ) "Hypertrophy of facial bones") AnnotationAssertion(Annotation( ) "Hypertrophy of facial skeleton") AnnotationAssertion( "UMLS:C1857501") AnnotationAssertion( "UMLS:C4280485") AnnotationAssertion( "UMLS:C4280486") AnnotationAssertion( "UMLS:C4280487") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargment of the facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargment of the facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of facial skeleton") AnnotationAssertion(Annotation( ) "Hyperostosis of facial bones") AnnotationAssertion(Annotation( ) "Hyperostosis of facial skeleton") AnnotationAssertion(Annotation( ) "Hypertrophy of the facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Increase in size of the facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increase in size of the facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the facial bones") AnnotationAssertion(Annotation( ) "Increased ossification of facial bones") AnnotationAssertion(Annotation( ) "Increased ossification of facial skeleton") AnnotationAssertion( "HP:0005465") @@ -67628,13 +67621,13 @@ AnnotationAssertion( "UMLS:C1845147") AnnotationAssertion( "UMLS:C4280483") AnnotationAssertion( "UMLS:C4280484") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of bone of forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of bone of forehead") AnnotationAssertion( "Hypoplastic frontal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Small bone of forehead") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of bone of forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Small bone of forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of bone of forehead") AnnotationAssertion(Annotation( ) "Hypotrophic frontal bone") AnnotationAssertion(Annotation( ) "Hypotrophic frontal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin bone of forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin bone of forehead") AnnotationAssertion( "HP:0005466") AnnotationAssertion(rdfs:label "Hypoplasia of the frontal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -67646,10 +67639,10 @@ SubClassOf( "PMID:19125436") "Reduced convexity of the occiput (posterior part of skull).") AnnotationAssertion( "HP:0000247") AnnotationAssertion( "HP:0000249") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat back of skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat back of the head") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat back of the skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat posterior head") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat back of skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat back of the head") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat back of the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat posterior head") AnnotationAssertion( "UMLS:C1837402") AnnotationAssertion( "UMLS:C4280482") AnnotationAssertion(Annotation( ) "Flat posterior cranium") @@ -67691,7 +67684,7 @@ AnnotationAssertion( "Poorly ossified calvaria") AnnotationAssertion( "Poorly ossified calvarium") AnnotationAssertion( "Soft calvaria") -AnnotationAssertion(Annotation( ) Annotation( ) "Soft skullcap") +AnnotationAssertion(Annotation( ) Annotation( ) "Soft skullcap") AnnotationAssertion( "Undermineralized calvarium") AnnotationAssertion( "Skull soft on palpation") AnnotationAssertion( "HP:0005474") @@ -67729,8 +67722,8 @@ AnnotationAssertion( ) "Large frontal sinus") AnnotationAssertion(Annotation( ) "Hyperplasia of frontal sinus") AnnotationAssertion(Annotation( ) "Hypertrophy of frontal sinus") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of frontal sinus") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of frontal sinus") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of frontal sinus") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of frontal sinus") AnnotationAssertion( "HP:0005478") AnnotationAssertion(rdfs:label "Prominent frontal sinuses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -67780,7 +67773,7 @@ AnnotationAssertion(Annotation( "HP:0000241") AnnotationAssertion( "HP:0000259") AnnotationAssertion( "HP:0005499") -AnnotationAssertion(Annotation( ) Annotation( ) "Development of small head that was not present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Development of small head that was not present at birth") AnnotationAssertion( "UMLS:C1847514") AnnotationAssertion(Annotation( ) "Acquired microcephaly") AnnotationAssertion( "Deceleration of head growth") @@ -67796,15 +67789,15 @@ SubClassOf( (Small fontanelle) AnnotationAssertion(Annotation( ) Annotation( "PMID:12825844") "A fontanelle that is small for age.") -AnnotationAssertion(Annotation( ) Annotation( ) "Little cranial sutures") -AnnotationAssertion(Annotation( ) Annotation( ) "Small cranial sutures") +AnnotationAssertion(Annotation( ) Annotation( ) "Little cranial sutures") +AnnotationAssertion(Annotation( ) Annotation( ) "Small cranial sutures") AnnotationAssertion( "SNOMEDCT_US:276710001") AnnotationAssertion( "UMLS:C0456133") AnnotationAssertion( "UMLS:C4072854") AnnotationAssertion( "UMLS:C4072855") AnnotationAssertion(Annotation( ) "Little fontanelle") AnnotationAssertion(Annotation( ) "Microfontanelle") -AnnotationAssertion(Annotation( ) Annotation( ) "Small soft spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Small soft spot") AnnotationAssertion(Annotation( ) "Small bregma sutures") AnnotationAssertion( "HP:0005486") AnnotationAssertion( ) @@ -68083,7 +68076,7 @@ AnnotationAssertion(Annotation( "HP:0005529") AnnotationAssertion( "HP:0100549") AnnotationAssertion( "UMLS:C1855710") -AnnotationAssertion(Annotation( ) "Bone marrow failure") +AnnotationAssertion(Annotation( ) "Bone marrow failure") AnnotationAssertion( "Bone marrow hypoplasia") AnnotationAssertion( "Hypoplastic bone marrow") AnnotationAssertion( "Myeloid hypoplasia") @@ -68142,9 +68135,9 @@ AnnotationAssertion(Annotation( "HP:0001938") AnnotationAssertion( "UMLS:C1096368") AnnotationAssertion( "UMLS:C1833182") -AnnotationAssertion(Annotation( ) "Small platelet size") -AnnotationAssertion(Annotation( ) "Small platelets") -AnnotationAssertion(Annotation( ) "Small platelets size") +AnnotationAssertion(Annotation( ) "Small platelet size") +AnnotationAssertion(Annotation( ) "Small platelets") +AnnotationAssertion(Annotation( ) "Small platelets size") AnnotationAssertion( "HP:0005537") AnnotationAssertion(rdfs:comment "Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).") AnnotationAssertion(rdfs:label "Decreased mean platelet volume") @@ -68294,7 +68287,7 @@ SubClassOf( "NCIT:C3483") "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-27T10:32:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic blood cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic blood cancer") AnnotationAssertion( "SNOMEDCT_US:128933000") AnnotationAssertion( "SNOMEDCT_US:92812005") AnnotationAssertion( "UMLS:C1279296") @@ -68336,7 +68329,7 @@ AnnotationAssertion( "UMLS:C0005956") AnnotationAssertion( "UMLS:C4021634") AnnotationAssertion( "Anomaly of the bone marrow cells") -AnnotationAssertion(Annotation( ) "Bone marrow disease") +AnnotationAssertion(Annotation( ) "Bone marrow disease") AnnotationAssertion( "HP:0005561") AnnotationAssertion(rdfs:label "Abnormality of bone marrow cell morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68347,7 +68340,7 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_ewuehl") "The presence of many cysts in the kidney.") AnnotationAssertion( "SNOMEDCT_US:253883006") AnnotationAssertion( "UMLS:C0431718") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple kidney cysts") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple kidney cysts") AnnotationAssertion( "HP:0005562") AnnotationAssertion(rdfs:label "Multiple renal cysts") SubClassOf( ) @@ -68483,7 +68476,7 @@ AnnotationAssertion( "SNOMEDCT_US:41607009") AnnotationAssertion( "SNOMEDCT_US:702391001") AnnotationAssertion( "UMLS:C0007134") -AnnotationAssertion(Annotation( ) Annotation( ) "Cancer starting in small tubes in kidneys") +AnnotationAssertion(Annotation( ) Annotation( ) "Cancer starting in small tubes in kidneys") AnnotationAssertion( "Hypernephroma") AnnotationAssertion( "Renal carcinoma") AnnotationAssertion( "HP:0005584") @@ -68495,7 +68488,7 @@ SubClassOf( "UMLS:C3806179") AnnotationAssertion( "Patchy hyperpigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Spotty increased pigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Spotty increased pigmentation") AnnotationAssertion( "HP:0005585") AnnotationAssertion(rdfs:label "Spotty hyperpigmentation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68505,7 +68498,7 @@ SubClassOf( "UMLS:C3805877") AnnotationAssertion( "Hyperpigmentation of exposed areas") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased pigmentation in sun-exposed areas") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased pigmentation in sun-exposed areas") AnnotationAssertion( "HP:0005586") AnnotationAssertion(rdfs:label "Hyperpigmentation in sun-exposed areas") SubClassOf( ) @@ -68532,8 +68525,8 @@ SubClassOf( "UMLS:C3806178") AnnotationAssertion( "Patchy depigmentation") -AnnotationAssertion(Annotation( ) "Patchy hypopigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Spotty decreased pigmentation") +AnnotationAssertion(Annotation( ) "Patchy hypopigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Spotty decreased pigmentation") AnnotationAssertion( "HP:0005590") AnnotationAssertion(rdfs:label "Spotty hypopigmentation") SubClassOf( ) @@ -68587,7 +68580,7 @@ SubClassOf( "UMLS:C3278401") AnnotationAssertion( "Hair hypopigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of hair color") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of hair color") AnnotationAssertion(Annotation( ) "Loss of hair colour") AnnotationAssertion( "HP:0005599") AnnotationAssertion( ) @@ -68604,7 +68597,7 @@ AnnotationAssertion( "SNOMEDCT_US:254815002") AnnotationAssertion( "UMLS:C1842036") AnnotationAssertion( "Giant pigmented hairy nevus") -AnnotationAssertion(Annotation( ) Annotation( ) "Giant pigmented mole") +AnnotationAssertion(Annotation( ) Annotation( ) "Giant pigmented mole") AnnotationAssertion( "Giant pigmented nevus") AnnotationAssertion( "HP:0005600") AnnotationAssertion(rdfs:comment "Between 4% and 6% of these lesions will develop into a malignant melanoma.") @@ -68672,7 +68665,7 @@ SubClassOf( "SNOMEDCT_US:51047007") AnnotationAssertion( "UMLS:C0232769") -AnnotationAssertion(Annotation( ) "Gallbladder dysfunction") +AnnotationAssertion(Annotation( ) "Gallbladder dysfunction") AnnotationAssertion( "HP:0005609") AnnotationAssertion(rdfs:label "Gallbladder dysfunction") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68691,8 +68684,8 @@ AnnotationAssertion(Annotation( "HP:0006396") AnnotationAssertion( "HP:0006425") AnnotationAssertion( "UMLS:C1851310") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thighbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thighbone") AnnotationAssertion( "Hypoplastic to absent femora") AnnotationAssertion( "Hypoplastic/aplastic femora") AnnotationAssertion( "HP:0005613") @@ -68708,8 +68701,8 @@ AnnotationAssertion( "HP:0005854") AnnotationAssertion( "SNOMEDCT_US:123982003") AnnotationAssertion( "UMLS:C0545053") -AnnotationAssertion(Annotation( ) "Advanced bone age") -AnnotationAssertion(Annotation( ) "Early bone maturation") +AnnotationAssertion(Annotation( ) "Advanced bone age") +AnnotationAssertion(Annotation( ) "Early bone maturation") AnnotationAssertion( "HP:0005616") AnnotationAssertion(rdfs:label "Accelerated skeletal maturation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -68739,7 +68732,7 @@ SubClassOf( ) "The ability of the interphalangeal joints to move beyond their normal range of motion.") AnnotationAssertion( "UMLS:C4025172") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased mobility of hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased mobility of hinge joints") AnnotationAssertion( "HP:0005620") AnnotationAssertion(rdfs:label "Hypermobility of interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68761,9 +68754,9 @@ SubClassOf( ) "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.") AnnotationAssertion( "UMLS:C4021630") -AnnotationAssertion(Annotation( ) "Broad long bones") -AnnotationAssertion(Annotation( ) "Wide long bones") -AnnotationAssertion(Annotation( ) "Widened long bones") +AnnotationAssertion(Annotation( ) "Broad long bones") +AnnotationAssertion(Annotation( ) "Wide long bones") +AnnotationAssertion(Annotation( ) "Widened long bones") AnnotationAssertion( "HP:0005622") AnnotationAssertion(rdfs:label "Broad long bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68773,7 +68766,7 @@ SubClassOf( ) "Absent ossification of the calvaria (vault of the skull).") AnnotationAssertion( "UMLS:C4021629") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bone maturation of skullcap") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bone maturation of skullcap") AnnotationAssertion( "Absent ossification of skull vault") AnnotationAssertion( "HP:0005623") AnnotationAssertion(rdfs:label "Absent ossification of calvaria") @@ -68811,8 +68804,8 @@ SubClassOf( (Absent forearm) AnnotationAssertion( "UMLS:C1408532") -AnnotationAssertion(Annotation( ) "Absent forearm") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent forearms") +AnnotationAssertion(Annotation( ) "Absent forearm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent forearms") AnnotationAssertion( "HP:0005632") AnnotationAssertion(rdfs:label "Absent forearm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68846,8 +68839,8 @@ SubClassOf( ) "Underdevelopment (hypoplasia) of the third toe.") AnnotationAssertion( "UMLS:C4021628") AnnotationAssertion( "Brachydactyly of third toes") -AnnotationAssertion(Annotation( ) "Short 3rd toe") -AnnotationAssertion(Annotation( ) "Short third toe") +AnnotationAssertion(Annotation( ) "Short 3rd toe") +AnnotationAssertion(Annotation( ) "Short third toe") AnnotationAssertion( "HP:0005643") AnnotationAssertion(rdfs:label "Short 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -68936,7 +68929,7 @@ SubClassOf( "PMID:26668420") "Osteomyelitis caused by infection with the bacteria, salmonella.") AnnotationAssertion( "SNOMEDCT_US:6803002") AnnotationAssertion( "UMLS:C0152491") -AnnotationAssertion(Annotation( ) "Salmonella bone infection") +AnnotationAssertion(Annotation( ) "Salmonella bone infection") AnnotationAssertion( "HP:0005661") AnnotationAssertion(rdfs:label "Salmonella osteomyelitis") SubClassOf( ) @@ -69018,7 +69011,7 @@ SubClassOf( (Talocalcaneal synostosis) -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/subtalar_joint") Annotation( ) "Fusion of foot joint") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/subtalar_joint") Annotation( ) "Fusion of foot joint") AnnotationAssertion( "UMLS:C4025155") AnnotationAssertion( "UMLS:C4255214") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/subtalar_joint") "Fusion of the subtalar joint") @@ -69040,7 +69033,7 @@ SubClassOf( ) "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.") AnnotationAssertion( "UMLS:C1855845") AnnotationAssertion(Annotation( ) "Patchy increase of bone mineral density") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density") AnnotationAssertion( "HP:0005686") AnnotationAssertion(rdfs:label "Patchy osteosclerosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -69050,7 +69043,7 @@ SubClassOf( (Deformed humeral heads) AnnotationAssertion( "UMLS:C4025154") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformed head of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformed head of long bone in upper arm") AnnotationAssertion( "HP:0005687") AnnotationAssertion(rdfs:label "Deformed humeral heads") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -69074,14 +69067,14 @@ SubClassOf( ) "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.") AnnotationAssertion( "UMLS:C3553764") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Joints move beyond expected range of motion") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Joints move beyond expected range of motion") AnnotationAssertion( "HP:0005692") AnnotationAssertion(rdfs:label "Joint hyperflexibility") SubClassOf( ) # Class: (Partial fusion of proximal row of carpal bones) -AnnotationAssertion(Annotation( ) Annotation( ) "Partial fusion of innermost row of wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial fusion of innermost row of wrist bones") AnnotationAssertion( "UMLS:C3152021") AnnotationAssertion( "HP:0005694") AnnotationAssertion(rdfs:label "Partial fusion of proximal row of carpal bones") @@ -69130,7 +69123,7 @@ AnnotationAssertion( "Complete cutaneous syndactyly of second and third toes") AnnotationAssertion( "Cutaneous 2,3 toe syndactyly") AnnotationAssertion( "Cutaneous syndactyly of second and third toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed skin of 2nd-3rd toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed skin of 2nd-3rd toes") AnnotationAssertion( "HP:0005709") AnnotationAssertion(rdfs:label "2-3 toe cutaneous syndactyly") SubClassOf( ) @@ -69138,7 +69131,7 @@ SubClassOf( (Flattened knee epiphyses) AnnotationAssertion( "UMLS:C4025150") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened end part of knee bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened end part of knee bone") AnnotationAssertion( "HP:0005715") AnnotationAssertion(rdfs:label "Flattened knee epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -69149,7 +69142,7 @@ SubClassOf( "HP:0008898") AnnotationAssertion( "UMLS:C4021626") -AnnotationAssertion(Annotation( ) "Lethal dwarfism identifiable at birth") +AnnotationAssertion(Annotation( ) "Lethal dwarfism identifiable at birth") AnnotationAssertion( "HP:0005716") AnnotationAssertion(rdfs:label "Lethal skeletal dysplasia") SubClassOf( ) @@ -69166,7 +69159,7 @@ SubClassOf( ) "The ability of the thumb joints to move beyond their normal range of motion.") AnnotationAssertion( "UMLS:C4025148") -AnnotationAssertion(Annotation( ) Annotation( ) "Double jointed thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Double jointed thumb") AnnotationAssertion( "HP:0005722") AnnotationAssertion(rdfs:label "Hyperextensible thumb") SubClassOf( ) @@ -69190,7 +69183,7 @@ SubClassOf( (Thumbs hypoplastic with bulbous tips) AnnotationAssertion( "UMLS:C4025146") -AnnotationAssertion(Annotation( ) Annotation( ) "Short thumbs with bulbous tips") +AnnotationAssertion(Annotation( ) Annotation( ) "Short thumbs with bulbous tips") AnnotationAssertion( "HP:0005726") AnnotationAssertion(rdfs:label "Thumbs hypoplastic with bulbous tips") SubClassOf( ) @@ -69225,8 +69218,8 @@ AnnotationAssertion( "UMLS:C1855277") AnnotationAssertion( "Hypoplasia of the tibia") AnnotationAssertion( "Hypoplastic tibia") -AnnotationAssertion(Annotation( ) Annotation( ) "Short shinbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short skankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short skankbone") AnnotationAssertion( "Short tibiae") AnnotationAssertion( "Shortening of the shankbone") AnnotationAssertion( "Shortening of the shinbone") @@ -69327,7 +69320,7 @@ SubClassOf( ) "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.") AnnotationAssertion( "UMLS:C4021623") AnnotationAssertion( "Epiphyseal stippling in neonates") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in bone end parts in neonates") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in bone end parts in neonates") AnnotationAssertion( "HP:0005756") AnnotationAssertion(rdfs:label "Neonatal epiphyseal stippling") SubClassOf( ) @@ -69374,8 +69367,8 @@ SubClassOf( (Disproportionate shortening of the tibia) AnnotationAssertion( "UMLS:C3806516") -AnnotationAssertion(Annotation( ) Annotation( ) "Disproportionate shortening of the shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Disproportionate shortening of the shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Disproportionate shortening of the shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Disproportionate shortening of the shinbone") AnnotationAssertion( "Marked shortening of tibia") AnnotationAssertion( "HP:0005766") AnnotationAssertion(rdfs:label "Disproportionate shortening of the tibia") @@ -69393,8 +69386,8 @@ SubClassOf( ) "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.") AnnotationAssertion( "UMLS:C4021622") AnnotationAssertion( "Soft tissue syndactyly of toes 2, 3, and 4") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd, 3rd and 4th toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed second, third and fourth toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd, 3rd and 4th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed second, third and fourth toes") AnnotationAssertion( "HP:0005768") AnnotationAssertion(rdfs:label "2-4 toe cutaneous syndactyly") SubClassOf( ) @@ -69402,9 +69395,9 @@ SubClassOf( (Fifth finger distal phalanx clinodactyly) AnnotationAssertion(Annotation( ) "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of outermost bone of pinky finger") AnnotationAssertion( "UMLS:C4025139") AnnotationAssertion( "UMLS:C4280477") AnnotationAssertion( "HP:0005769") @@ -69418,10 +69411,10 @@ SubClassOf( ) "Absence or underdevelopment of the tibia.") AnnotationAssertion( "UMLS:C1969181") AnnotationAssertion( "Absent/hypoplastic tibia") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shinbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shinbone") AnnotationAssertion( "Aplastic/hypoplastic tibia") AnnotationAssertion( "HP:0005772") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the tibia") @@ -69433,7 +69426,7 @@ SubClassOf( ) "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.") AnnotationAssertion( "UMLS:C1855299") -AnnotationAssertion(Annotation( ) "Short forearm") +AnnotationAssertion(Annotation( ) "Short forearm") AnnotationAssertion( "HP:0005773") AnnotationAssertion(rdfs:label "Short forearm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -69491,7 +69484,7 @@ SubClassOf( ) "An abnormal increase of bone mineral density with generalized involvement of the skeleton.") AnnotationAssertion( "HP:0005805") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in skeletal bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in skeletal bones") AnnotationAssertion( "UMLS:C1843331") AnnotationAssertion( "UMLS:C4280476") AnnotationAssertion( "Diffuse, symmetrical osteosclerosis") @@ -69545,9 +69538,9 @@ AnnotationAssertion( "Humeral shortening") AnnotationAssertion( "Hypoplastic humerus") AnnotationAssertion( "Short humeri") -AnnotationAssertion(Annotation( ) "Short humerus") -AnnotationAssertion(Annotation( ) Annotation( ) "Short long bone of upper arm") -AnnotationAssertion(Annotation( ) "Short upper arms") +AnnotationAssertion(Annotation( ) "Short humerus") +AnnotationAssertion(Annotation( ) Annotation( ) "Short long bone of upper arm") +AnnotationAssertion(Annotation( ) "Short upper arms") AnnotationAssertion( "HP:0005792") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short humerus") @@ -69559,7 +69552,7 @@ SubClassOf( ) "Abnormally short distal phalanx of toe of all toes.") AnnotationAssertion( "UMLS:C4025132") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all outermost bone of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all outermost bone of the toes") AnnotationAssertion( "HP:0005793") AnnotationAssertion(rdfs:label "Shortening of all distal phalanges of the toes") SubClassOf( ) @@ -69591,7 +69584,7 @@ SubClassOf( ) "Aplasia (absence) of the distal phalanges.") AnnotationAssertion( "UMLS:C1861339") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost digital bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost digital bones") AnnotationAssertion( "HP:0005807") AnnotationAssertion(rdfs:label "Absent distal phalanges") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -69603,7 +69596,7 @@ AnnotationAssertion(Annotation( "HP:0000901") AnnotationAssertion( "SNOMEDCT_US:205460009") AnnotationAssertion( "UMLS:C0345397") -AnnotationAssertion(Annotation( ) "Extra ribs") +AnnotationAssertion(Annotation( ) "Extra ribs") AnnotationAssertion( "HP:0005815") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Supernumerary ribs") @@ -69633,7 +69626,7 @@ AnnotationAssertion( "Hypoplastic middle phalanges") AnnotationAssertion( "Hypoplastic middle phalanx") AnnotationAssertion( "Midphalangeal hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of finger") AnnotationAssertion( "Short middle phalanges") AnnotationAssertion( "Shortened middle finger bones") AnnotationAssertion( "HP:0005819") @@ -69653,7 +69646,7 @@ SubClassOf( (Clinodactyly of the 2nd toe) AnnotationAssertion(Annotation( ) "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of 2nd toe") AnnotationAssertion( "UMLS:C4021620") AnnotationAssertion( "UMLS:C4280473") AnnotationAssertion( "Clinodactyly of second toes") @@ -69754,7 +69747,7 @@ SubClassOf( ) "An abnormally round shape of the middle phalanx of the finger.") AnnotationAssertion( "UMLS:C4025126") -AnnotationAssertion(Annotation( ) Annotation( ) "Rounded middle bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Rounded middle bone of finger") AnnotationAssertion( "HP:0005844") AnnotationAssertion(rdfs:label "Rounded middle phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -69805,10 +69798,10 @@ AnnotationAssertion( "HP:0005761") AnnotationAssertion( "UMLS:C1853171") AnnotationAssertion( "Congenital bone fractures") -AnnotationAssertion(Annotation( ) "Multiple fractures present at birth") -AnnotationAssertion(Annotation( ) "Multiple fractures, present at birth") -AnnotationAssertion(Annotation( ) "Numerous multiple fractures present at birth") -AnnotationAssertion(Annotation( ) "Numerous multiple fractures that are present at birth") +AnnotationAssertion(Annotation( ) "Multiple fractures present at birth") +AnnotationAssertion(Annotation( ) "Multiple fractures, present at birth") +AnnotationAssertion(Annotation( ) "Numerous multiple fractures present at birth") +AnnotationAssertion(Annotation( ) "Numerous multiple fractures that are present at birth") AnnotationAssertion( "HP:0005855") AnnotationAssertion(rdfs:label "Multiple prenatal fractures") SubClassOf( ) @@ -69864,7 +69857,7 @@ SubClassOf( (4-5 metacarpal synostosis) AnnotationAssertion( "UMLS:C1859768") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused 4th-5th long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused 4th-5th long bones of hand") AnnotationAssertion( "Fused 4th-5th metacarpals") AnnotationAssertion( "Fused fourth and fifth metacarpals") AnnotationAssertion( "Ring finger and little finger metacarpal synostosis") @@ -69961,7 +69954,7 @@ SubClassOf( ) "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.") AnnotationAssertion( "HP:0100325") AnnotationAssertion( "UMLS:C4025117") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused long bone of hand with innermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused long bone of hand with innermost finger bone") AnnotationAssertion( "HP:0005880") AnnotationAssertion(rdfs:label "Metacarpophalangeal synostosis") SubClassOf( ) @@ -70003,11 +69996,11 @@ SubClassOf( (Hyperostosis cranialis interna) AnnotationAssertion(Annotation( ) "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the inner surface of the skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the inner surface of the skull bones") AnnotationAssertion(Annotation( ) "Hypertrophy of the internal surface of the cranial bones") AnnotationAssertion(Annotation( ) "Increased ossification of the internal surface of the cranial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the inside of the skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick inner surface of the skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the inside of the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick inner surface of the skull bones") AnnotationAssertion(Annotation( ) "Thick internal surface of the cranial bones") AnnotationAssertion( "MSH:C564168") AnnotationAssertion( "UMLS:C1840404") @@ -70016,10 +70009,10 @@ AnnotationAssertion( "UMLS:C4280470") AnnotationAssertion( "UMLS:C4280471") AnnotationAssertion( "UMLS:C4280472") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of inner surface of the skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive growth of inner surface of the skull bones") AnnotationAssertion(Annotation( ) "Hyperostosis of the internal surface of the cranial bone") AnnotationAssertion(Annotation( ) "Hyperostosis of the internal surface of the cranial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the inner surface of the skull bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the inner surface of the skull bones") AnnotationAssertion( "HP:0005890") AnnotationAssertion(rdfs:label "Hyperostosis cranialis interna") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70038,7 +70031,7 @@ SubClassOf( (Proximal tibial and fibular fusion) AnnotationAssertion( "UMLS:C4025113") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of innermost shinbone and calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of innermost shinbone and calf bone") AnnotationAssertion( "HP:0005892") AnnotationAssertion(rdfs:label "Proximal tibial and fibular fusion") SubClassOf( ) @@ -70048,7 +70041,7 @@ SubClassOf( ) "Duplication of the metacarpal I bones.") AnnotationAssertion( "UMLS:C4025112") -AnnotationAssertion(Annotation( ) Annotation( ) "Double 1st long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Double 1st long bones of hand") AnnotationAssertion( "HP:0005894") AnnotationAssertion(rdfs:label "Double first metacarpals") SubClassOf( ) @@ -70101,7 +70094,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "The presence of an abnormal curvature of the cervical vertebral column.") AnnotationAssertion( "UMLS:C3151523") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neck curve") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neck curve") AnnotationAssertion( "HP:0005905") AnnotationAssertion(rdfs:label "Abnormal cervical curvature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70147,7 +70140,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-27T02:13:00Z") AnnotationAssertion( "UMLS:C4025110") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of long bone of hand") AnnotationAssertion( "Abnormality of metacarpal epiphyses") AnnotationAssertion( "HP:0005913") AnnotationAssertion(rdfs:label "Abnormal metacarpal epiphysis morphology") @@ -70163,8 +70156,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006007") AnnotationAssertion( "UMLS:C1836192") AnnotationAssertion( "Absent or hypoplastic metacarpals") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small long bones of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped long bones of hand") AnnotationAssertion( "Aplastic/hypoplastic metacarpals") AnnotationAssertion( "Hypoplastic metacarpals") AnnotationAssertion( "Hypoplastic/absent metacarpal bones") @@ -70184,7 +70177,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0001163") AnnotationAssertion( "HP:0010556") AnnotationAssertion( "UMLS:C4021615") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of long bones of hand") AnnotationAssertion( "Abnormal shape of metacarpal bones") AnnotationAssertion( "HP:0005916") AnnotationAssertion(rdfs:label "Abnormal metacarpal morphology") @@ -70199,7 +70192,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-27T02:18:00Z") AnnotationAssertion( "SNOMEDCT_US:91846008") AnnotationAssertion( "UMLS:C0545617") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra long bones of hand") AnnotationAssertion( "HP:0005917") AnnotationAssertion(rdfs:label "Supernumerary metacarpal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70215,7 +70208,7 @@ AnnotationAssertion( "UMLS:C4021614") AnnotationAssertion( "Abnormal form of phalanges of the hand") AnnotationAssertion( "Abnormality of phalanx of finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the finger bones") AnnotationAssertion( "Abnormality of the phalanges") AnnotationAssertion( "Abnormality of the phalanges of the hand") AnnotationAssertion( "HP:0005918") @@ -70251,7 +70244,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-27T02:25:00Z") AnnotationAssertion( "HP:0003098") AnnotationAssertion( "UMLS:C4025109") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of hand") AnnotationAssertion( "HP:0005922") AnnotationAssertion(rdfs:comment "This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions.") AnnotationAssertion(rdfs:label "Abnormal hand morphology") @@ -70264,7 +70257,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-27T02:27:00Z") AnnotationAssertion( "UMLS:C4025108") AnnotationAssertion( "Abnormalities of the metaphyses of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the hand bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the hand bone") AnnotationAssertion( "HP:0005923") AnnotationAssertion(rdfs:label "Abnormal hand metaphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -70277,7 +70270,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-27T02:28:00Z") AnnotationAssertion( "UMLS:C4025107") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the hand bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the hand bone") AnnotationAssertion( "Abnormality of the end part of the hand bones") AnnotationAssertion( "Abnormality of the epiphyses of the fingers") AnnotationAssertion( "Abnormality of the epiphyses of the hand") @@ -70293,7 +70286,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-27T02:28:00Z") AnnotationAssertion( "UMLS:C4025106") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormalities of shaft of long bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormalities of shaft of long bone of the hand") AnnotationAssertion( "Abnormalities of the diaphyses of the hand") AnnotationAssertion( "HP:0005925") AnnotationAssertion(rdfs:label "Abnormal hand diaphysis morphology") @@ -70320,8 +70313,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-27T02:29:00Z") AnnotationAssertion( "UMLS:C4021612") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small hand bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped hand bones") AnnotationAssertion( "Hypoplasia/absence of hand bones") AnnotationAssertion( "HP:0005927") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia involving bones of the hand") @@ -70334,7 +70327,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-27T02:34:00Z") AnnotationAssertion( "UMLS:C4025104") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone fusion involving the calf bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone fusion involving the calf bones") AnnotationAssertion( "HP:0005928") AnnotationAssertion(rdfs:label "Synostosis involving the fibula") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70346,7 +70339,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-27T02:34:00Z") AnnotationAssertion( "UMLS:C4025103") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone fusion involving the shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone fusion involving the shinbone") AnnotationAssertion( "HP:0005929") AnnotationAssertion(rdfs:label "Synostosis involving the tibia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70360,7 +70353,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-27T03:00:00Z") AnnotationAssertion( "HP:0000936") AnnotationAssertion( "UMLS:C4021611") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of bone") AnnotationAssertion( "Abnormality of epiphysis morphology") AnnotationAssertion( "Abnormality of the epiphyses") AnnotationAssertion( "Anomaly of the epiphyses") @@ -70430,7 +70423,7 @@ SubClassOf( "SNOMEDCT_US:87317003") AnnotationAssertion( "UMLS:C0162297") -AnnotationAssertion(Annotation( ) Annotation( ) "Breathing cessation") +AnnotationAssertion(Annotation( ) Annotation( ) "Breathing cessation") AnnotationAssertion( "HP:0005943") AnnotationAssertion(rdfs:label "Respiratory arrest") SubClassOf( ) @@ -70441,7 +70434,7 @@ AnnotationAssertion(Annotation( "HP:0006550") AnnotationAssertion( "Fyler:4206") AnnotationAssertion( "UMLS:C4021610") -AnnotationAssertion(Annotation( ) "Absent lungs") +AnnotationAssertion(Annotation( ) "Absent lungs") AnnotationAssertion( "Bilateral pulmonary agenesis") AnnotationAssertion( "HP:0005944") AnnotationAssertion(rdfs:label "Bilateral lung agenesis") @@ -70469,7 +70462,7 @@ SubClassOf( ) "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.") AnnotationAssertion( "UMLS:C3806286") AnnotationAssertion(Annotation( ) "Decreased sensitivity to hypoxaemia") -AnnotationAssertion(Annotation( ) "Decreased sensitivity to hypoxemia") +AnnotationAssertion(Annotation( ) "Decreased sensitivity to hypoxemia") AnnotationAssertion( "HP:0005947") AnnotationAssertion(rdfs:comment "Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood).") AnnotationAssertion(rdfs:label "Decreased sensitivity to hypoxemia") @@ -70563,7 +70556,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "A decreased concentration of arginine in the blood.") AnnotationAssertion( "UMLS:C1859735") AnnotationAssertion( "UMLS:C4025095") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood arginine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood arginine levels") AnnotationAssertion( "Arginine deficiency") AnnotationAssertion( "HP:0005961") AnnotationAssertion(rdfs:label "Hypoargininemia") @@ -70575,8 +70568,8 @@ SubClassOf( ) "Episodes of reduced body termperature.") AnnotationAssertion( "HP:0005970") AnnotationAssertion( "UMLS:C1837639") -AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent abnormally low body temperature") -AnnotationAssertion(Annotation( ) "Intermittent hypothermia") +AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent abnormally low body temperature") +AnnotationAssertion(Annotation( ) "Intermittent hypothermia") AnnotationAssertion( "HP:0005964") AnnotationAssertion(rdfs:label "Intermittent hypothermia") SubClassOf( ) @@ -70593,8 +70586,8 @@ SubClassOf( ) "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.") AnnotationAssertion( "UMLS:C1820737") AnnotationAssertion( "UMLS:C3279038") -AnnotationAssertion(Annotation( ) "Temperature instability") -AnnotationAssertion(Annotation( ) Annotation( ) "Body temperature instability") +AnnotationAssertion(Annotation( ) "Temperature instability") +AnnotationAssertion(Annotation( ) Annotation( ) "Body temperature instability") AnnotationAssertion( "HP:0005968") AnnotationAssertion(rdfs:label "Temperature instability") SubClassOf( ) @@ -70659,9 +70652,9 @@ AnnotationAssertion(Annotation( "NIDDM diabetes mellitus") AnnotationAssertion( "Non-insulin dependent diabetes") AnnotationAssertion( "Noninsulin dependent diabetes mellitus") -AnnotationAssertion(Annotation( ) "Noninsulin-dependent diabetes") -AnnotationAssertion(Annotation( ) "Type 2 diabetes") -AnnotationAssertion(Annotation( ) "Type II diabetes") +AnnotationAssertion(Annotation( ) "Noninsulin-dependent diabetes") +AnnotationAssertion(Annotation( ) "Type 2 diabetes") +AnnotationAssertion(Annotation( ) "Type II diabetes") AnnotationAssertion( "Diabetes mellitus type 2") AnnotationAssertion( "Noninsulin-dependent diabetes mellitus") AnnotationAssertion( "HP:0005978") @@ -70704,14 +70697,14 @@ SubClassOf( (Limitation of neck motion) -AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck mobility") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck mobility") AnnotationAssertion( "MSH:D009127") AnnotationAssertion( "SNOMEDCT_US:161882006") AnnotationAssertion( "SNOMEDCT_US:405947006") AnnotationAssertion( "UMLS:C0151315") AnnotationAssertion( "UMLS:C1320474") AnnotationAssertion( "UMLS:C1847392") -AnnotationAssertion(Annotation( ) "Limitation of neck motion") +AnnotationAssertion(Annotation( ) "Limitation of neck motion") AnnotationAssertion( "Restricted neck movement") AnnotationAssertion( "HP:0005986") AnnotationAssertion(rdfs:label "Limitation of neck motion") @@ -70745,13 +70738,13 @@ AnnotationAssertion(Annotation( "HP:0005993") AnnotationAssertion( "HP:0005996") AnnotationAssertion( "UMLS:C1840319") -AnnotationAssertion(Annotation( ) Annotation( ) "Excess neck skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Excess skin over the neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Excess neck skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Excess skin over the neck") AnnotationAssertion( "Excessive nuchal skin") -AnnotationAssertion(Annotation( ) "Redundant neck skin") +AnnotationAssertion(Annotation( ) "Redundant neck skin") AnnotationAssertion( "Redundant nuchal skin") -AnnotationAssertion(Annotation( ) "Redundant skin folds of neck") -AnnotationAssertion(Annotation( ) "Redundant skin over the neck") +AnnotationAssertion(Annotation( ) "Redundant skin folds of neck") +AnnotationAssertion(Annotation( ) "Redundant skin over the neck") AnnotationAssertion( "HP:0005989") AnnotationAssertion(rdfs:comment "With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used.") AnnotationAssertion(rdfs:label "Redundant neck skin") @@ -70766,7 +70759,7 @@ AnnotationAssertion( "SNOMEDCT_US:367524008") AnnotationAssertion( "UMLS:C0151516") AnnotationAssertion( "Hypoplastic thyroid") -AnnotationAssertion(Annotation( ) "Small thyroid gland") +AnnotationAssertion(Annotation( ) "Small thyroid gland") AnnotationAssertion( "HP:0005990") AnnotationAssertion(rdfs:label "Thyroid hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70777,7 +70770,7 @@ SubClassOf( "Reduced abilty to lower the chin towards the chest by bending the neck.") AnnotationAssertion( "UMLS:C1864449") AnnotationAssertion(Annotation( ) "Limited cervical flexion") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck flexibility") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck flexibility") AnnotationAssertion( "HP:0005991") AnnotationAssertion(rdfs:label "Limited neck flexion") SubClassOf( ) @@ -70798,7 +70791,7 @@ SubClassOf( ) "Reduced amount of adipose tissue in the region of the neck.") AnnotationAssertion( "UMLS:C1837763") AnnotationAssertion( "Loss of adipose tissue around the neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat around neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat around neck") AnnotationAssertion( "HP:0005995") AnnotationAssertion(rdfs:label "Decreased adipose tissue around neck") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -70808,8 +70801,8 @@ SubClassOf( "UMLS:C1867006") AnnotationAssertion( "Neck joint contracture") -AnnotationAssertion(Annotation( ) Annotation( ) "Restricted neck mobility due to contractures") -AnnotationAssertion(Annotation( ) "Restricted neck movement due to contractures") +AnnotationAssertion(Annotation( ) Annotation( ) "Restricted neck mobility due to contractures") +AnnotationAssertion(Annotation( ) "Restricted neck movement due to contractures") AnnotationAssertion( "HP:0005997") AnnotationAssertion(rdfs:label "Neck joint contracture") SubClassOf( ) @@ -70841,14 +70834,14 @@ SubClassOf( (Hypotrophy of the small hand muscles) AnnotationAssertion( "UMLS:C1843228") -AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of small hand muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of small hand muscles") AnnotationAssertion( "HP:0006006") AnnotationAssertion(rdfs:label "Hypotrophy of the small hand muscles") SubClassOf( ) # Class: (Unilateral brachydactyly) -AnnotationAssertion(Annotation( ) Annotation( ) "Short digits on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Short digits on one side") AnnotationAssertion( "UMLS:C1868164") AnnotationAssertion( "UMLS:C4280467") AnnotationAssertion( "HP:0006008") @@ -70862,7 +70855,7 @@ AnnotationAssertion( "HP:0006249") AnnotationAssertion( "UMLS:C1855185") AnnotationAssertion( "Broad phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide digital bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide digital bones") AnnotationAssertion( "Wide phalanges") AnnotationAssertion( "Widened phalanges") AnnotationAssertion( "HP:0006009") @@ -70875,7 +70868,7 @@ SubClassOf( ) "Severely shortened metacarpal with a cuboidal appearance.") AnnotationAssertion( "UMLS:C4025093") -AnnotationAssertion(Annotation( ) Annotation( ) "Short, cube shaped long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Short, cube shaped long bone of hand") AnnotationAssertion( "HP:0006011") AnnotationAssertion(rdfs:comment "The metacarpals are normally tubular in appearance.") AnnotationAssertion(rdfs:label "Cuboidal metacarpal") @@ -70884,7 +70877,7 @@ SubClassOf( (Widened metacarpal shaft) AnnotationAssertion( "UMLS:C1850159") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone of hand") AnnotationAssertion( "HP:0006012") AnnotationAssertion(rdfs:label "Widened metacarpal shaft") SubClassOf( ) @@ -70892,7 +70885,7 @@ SubClassOf( (Abnormally shaped carpal bones) AnnotationAssertion( "UMLS:C1860111") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped wrist bones") AnnotationAssertion( "HP:0006014") AnnotationAssertion(rdfs:label "Abnormally shaped carpal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70903,7 +70896,7 @@ SubClassOf( ) "Delay in the process of formation and maturation of the epiphysis of one or more phalanx.") AnnotationAssertion( "UMLS:C4021609") AnnotationAssertion( "Delayed phalangeal epiphyseal bone maturation") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed bone maturation of end part of digital bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed bone maturation of end part of digital bone") AnnotationAssertion( "HP:0006016") AnnotationAssertion(rdfs:label "Delayed phalangeal epiphyseal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -70912,7 +70905,7 @@ SubClassOf( (Reduced proximal interphalangeal joint space) AnnotationAssertion( "UMLS:C1861396") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased space in hinge joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased space in hinge joint") AnnotationAssertion( "HP:0006019") AnnotationAssertion(rdfs:label "Reduced proximal interphalangeal joint space") SubClassOf( ) @@ -70920,7 +70913,7 @@ SubClassOf( (Rounded epiphyses) AnnotationAssertion( "UMLS:C1850632") -AnnotationAssertion(Annotation( ) Annotation( ) "Rounded end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Rounded end part of bone") AnnotationAssertion( "HP:0006026") AnnotationAssertion(rdfs:label "Rounded epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70931,7 +70924,7 @@ SubClassOf( ) "Metaphyseal cupping affecting the metacarpal bones.") AnnotationAssertion( "HP:0006131") AnnotationAssertion( "UMLS:C1855171") -AnnotationAssertion(Annotation( ) Annotation( ) "Cupping of wide portion of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Cupping of wide portion of long bone of hand") AnnotationAssertion( "Metacarpal/metaphyseal cupping") AnnotationAssertion( "HP:0006028") AnnotationAssertion(rdfs:label "Metaphyseal cupping of metacarpals") @@ -70941,7 +70934,7 @@ SubClassOf( (Cone-shaped epiphyses of phalanges 2 to 5) AnnotationAssertion( "UMLS:C1857005") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of digital bones 2 to 5") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of digital bones 2 to 5") AnnotationAssertion( "HP:0006035") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of phalanges 2 to 5") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70950,7 +70943,7 @@ SubClassOf( (Long second metacarpal) AnnotationAssertion( "UMLS:C1861531") -AnnotationAssertion(Annotation( ) Annotation( ) "Long 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Long 2nd long bone of hand") AnnotationAssertion( "HP:0006040") AnnotationAssertion(rdfs:label "Long second metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70960,7 +70953,7 @@ SubClassOf( ) "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.") AnnotationAssertion( "UMLS:C1861373") -AnnotationAssertion(Annotation( ) Annotation( ) "Y-shaped long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Y-shaped long bone of hand") AnnotationAssertion( "HP:0006042") AnnotationAssertion(rdfs:label "Y-shaped metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -70969,7 +70962,7 @@ SubClassOf( (Short pointed phalanges) AnnotationAssertion( "UMLS:C1849740") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pointed digital bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pointed digital bones") AnnotationAssertion( "HP:0006045") AnnotationAssertion(rdfs:label "Short pointed phalanges") SubClassOf( ) @@ -70978,7 +70971,7 @@ SubClassOf( ) "Abnormal increase in width of the distal region of the metacarpal bones.") AnnotationAssertion( "UMLS:C1865254") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost end of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost end of long bone") AnnotationAssertion( "HP:0006048") AnnotationAssertion(rdfs:label "Distal widening of metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71003,7 +70996,7 @@ SubClassOf( ) "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.") AnnotationAssertion( "UMLS:C1855239") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of long bone") AnnotationAssertion( "Metacarpal cone-shaped epiphyses") AnnotationAssertion( "HP:0006059") AnnotationAssertion(rdfs:label "Cone-shaped metacarpal epiphyses") @@ -71014,7 +71007,7 @@ SubClassOf( (Tombstone-shaped proximal phalanges) AnnotationAssertion( "UMLS:C1862420") -AnnotationAssertion(Annotation( ) Annotation( ) "Tombstone-shaped innermost digital bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Tombstone-shaped innermost digital bones") AnnotationAssertion( "HP:0006060") AnnotationAssertion(rdfs:label "Tombstone-shaped proximal phalanges") SubClassOf( ) @@ -71022,7 +71015,7 @@ SubClassOf( (Limited interphalangeal movement) AnnotationAssertion( "UMLS:C1840089") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited movement of hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited movement of hinge joints") AnnotationAssertion( "HP:0006064") AnnotationAssertion(rdfs:label "Limited interphalangeal movement") SubClassOf( ) @@ -71081,7 +71074,7 @@ SubClassOf( (Palmar hyperhidrosis) AnnotationAssertion( "UMLS:C1856953") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating of hands") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating of hands") AnnotationAssertion( "HP:0006089") AnnotationAssertion(rdfs:label "Palmar hyperhidrosis") SubClassOf( ) @@ -71091,7 +71084,7 @@ SubClassOf( ) "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).") AnnotationAssertion( "UMLS:C1856742") -AnnotationAssertion(Annotation( ) Annotation( ) "Incorrect alignment of wrist bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Incorrect alignment of wrist bone") AnnotationAssertion( "HP:0006092") AnnotationAssertion(rdfs:label "Malaligned carpal bone") SubClassOf( ) @@ -71100,7 +71093,7 @@ SubClassOf( "SNOMEDCT_US:298193009") AnnotationAssertion( "UMLS:C0574974") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased mobility in finger joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased mobility in finger joint") AnnotationAssertion( "HP:0006094") AnnotationAssertion(rdfs:label "Finger joint hypermobility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -71111,7 +71104,7 @@ SubClassOf( (Wide tufts of distal phalanges) AnnotationAssertion( "UMLS:C1835101") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide tips of outermost digital bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide tips of outermost digital bone") AnnotationAssertion( "HP:0006095") AnnotationAssertion(rdfs:label "Wide tufts of distal phalanges") SubClassOf( ) @@ -71123,7 +71116,7 @@ AnnotationAssertion( "UMLS:C1856889") AnnotationAssertion( "Partial or complete syndactyly 3rd-4th fingers") AnnotationAssertion( "Webbed 3rd-4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 3rd-4th fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 3rd-4th fingers") AnnotationAssertion( "HP:0006097") AnnotationAssertion(rdfs:label "3-4 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71165,7 +71158,7 @@ AnnotationAssertion(Annotation( "HP:0006246") AnnotationAssertion( "UMLS:C1861248") AnnotationAssertion( "Finger pad telangiectases") -AnnotationAssertion(Annotation( ) Annotation( ) "Small dilated blood vessels in fingerpads") +AnnotationAssertion(Annotation( ) Annotation( ) "Small dilated blood vessels in fingerpads") AnnotationAssertion( "HP:0006107") AnnotationAssertion(rdfs:label "Fingerpad telangiectases") SubClassOf( ) @@ -71174,7 +71167,7 @@ SubClassOf( ) "Metacarpal that becomes thinner toward the distal end.") AnnotationAssertion( "UMLS:C4025091") -AnnotationAssertion(Annotation( ) Annotation( ) "Tapered long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Tapered long bones of hand") AnnotationAssertion( "HP:0006108") AnnotationAssertion(rdfs:label "Tapered metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71211,7 +71204,7 @@ SubClassOf( ) "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).") AnnotationAssertion( "UMLS:C1861872") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple palm lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple palm lines") AnnotationAssertion( "HP:0006114") AnnotationAssertion(rdfs:label "Multiple palmar creases") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71222,7 +71215,7 @@ SubClassOf( ) "Hypoplasia of all of the distal phalanx of finger.") AnnotationAssertion( "HP:0005658") AnnotationAssertion( "UMLS:C4021608") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all outermost bones of the fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all outermost bones of the fingers") AnnotationAssertion( "Brachytelephalangy") AnnotationAssertion( "HP:0006118") AnnotationAssertion(rdfs:label "Shortening of all distal phalanges of the fingers") @@ -71232,7 +71225,7 @@ SubClassOf( ) "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.") AnnotationAssertion( "UMLS:C1854749") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed innermost long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed innermost long bone of hand") AnnotationAssertion(Annotation( ) "Pointed proximal metacarpals") AnnotationAssertion( "HP:0006119") AnnotationAssertion( ) @@ -71254,7 +71247,7 @@ SubClassOf( ) "Increased length of the proximal phalanx of finger.") AnnotationAssertion( "UMLS:C4025090") -AnnotationAssertion(Annotation( ) Annotation( ) "Long innermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Long innermost finger bone") AnnotationAssertion( "HP:0006127") AnnotationAssertion(rdfs:label "Long proximal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71265,7 +71258,7 @@ SubClassOf( ) "Rounding and broadening of the tufts of the distal phalanges.") AnnotationAssertion( "UMLS:C1844822") -AnnotationAssertion(Annotation( ) Annotation( ) "Drumstick shaped digital bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Drumstick shaped digital bones") AnnotationAssertion( "HP:0006129") AnnotationAssertion(rdfs:comment "This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg).") AnnotationAssertion(rdfs:label "Drumstick terminal phalanges") @@ -71275,7 +71268,7 @@ SubClassOf( ) "Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).") AnnotationAssertion( "UMLS:C1865035") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of long bone of hand") AnnotationAssertion( "HP:0006134") AnnotationAssertion(rdfs:label "Enlarged metacarpal epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71285,8 +71278,8 @@ SubClassOf( (Decreased finger mobility) AnnotationAssertion( "UMLS:C1862133") -AnnotationAssertion(Annotation( ) "Decreased finger mobility") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased finger movement") +AnnotationAssertion(Annotation( ) "Decreased finger mobility") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased finger movement") AnnotationAssertion( "HP:0006135") AnnotationAssertion(rdfs:label "Decreased finger mobility") SubClassOf( ) @@ -71302,7 +71295,7 @@ SubClassOf( ) "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.") AnnotationAssertion( "UMLS:C1855620") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature fusion of end part of digital bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature fusion of end part of digital bone") AnnotationAssertion( "HP:0006140") AnnotationAssertion(rdfs:label "Premature fusion of phalangeal epiphyses") SubClassOf( ) @@ -71322,7 +71315,7 @@ SubClassOf( ) "Congenital hypoplasia of proximal phalanx of finger or all fingers.") AnnotationAssertion( "HP:0006021") AnnotationAssertion( "UMLS:C4025089") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all innermost bones of the fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all innermost bones of the fingers") AnnotationAssertion( "HP:0006144") AnnotationAssertion(rdfs:label "Shortening of all proximal phalanges of the fingers") SubClassOf( ) @@ -71331,7 +71324,7 @@ SubClassOf( ) "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.") AnnotationAssertion( "UMLS:C1848597") -AnnotationAssertion(Annotation( ) Annotation( ) "Y-shaped central long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Y-shaped central long bones of hand") AnnotationAssertion( "HP:0006145") AnnotationAssertion(rdfs:label "Central Y-shaped metacarpal") SubClassOf( ) @@ -71340,7 +71333,7 @@ SubClassOf( ) "Increased side-to-side width of the metacarpal epiphyses.") AnnotationAssertion( "UMLS:C4025088") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad end part of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad end part of long bone of hand") AnnotationAssertion( "HP:0006146") AnnotationAssertion(rdfs:label "Broad metacarpal epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71373,7 +71366,7 @@ SubClassOf( ) "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.") AnnotationAssertion( "HP:0006005") AnnotationAssertion( "UMLS:C4021607") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost hinge joints") AnnotationAssertion( "Proximal interphalangeal joint synostoses") AnnotationAssertion( "HP:0006152") AnnotationAssertion(rdfs:label "Proximal symphalangism of hands") @@ -71394,7 +71387,7 @@ SubClassOf( ) "Increased length of multiple or a single phalanx of finger.") AnnotationAssertion( "UMLS:C4025087") -AnnotationAssertion(Annotation( ) Annotation( ) "Long finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Long finger bone") AnnotationAssertion( "HP:0006155") AnnotationAssertion(rdfs:label "Long phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71403,7 +71396,7 @@ SubClassOf( (Ulnar deviation of thumb) AnnotationAssertion(Annotation( ) Annotation( "PMID:10955488") "Bending or curvature of a thumb towards the ulnar side (towards the ring finger).") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved thumb deviated towards palm") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved thumb deviated towards palm") AnnotationAssertion( "SNOMEDCT_US:299137000") AnnotationAssertion( "UMLS:C0575904") AnnotationAssertion( "UMLS:C4280465") @@ -71416,7 +71409,7 @@ SubClassOf( (Prominent palmar flexion creases) -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent life line") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent life line") AnnotationAssertion( "UMLS:C1865131") AnnotationAssertion( "UMLS:C4280464") AnnotationAssertion( "HP:0006157") @@ -71449,7 +71442,7 @@ SubClassOf( ) "Irregular morphology of one or more metacarpal bones.") AnnotationAssertion( "UMLS:C4025086") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular long bones of hand") AnnotationAssertion( "HP:0006160") AnnotationAssertion(rdfs:label "Irregular metacarpals") SubClassOf( ) @@ -71457,7 +71450,7 @@ SubClassOf( (Short metacarpals with rounded proximal ends) AnnotationAssertion( "UMLS:C1856471") -AnnotationAssertion(Annotation( ) Annotation( ) "Short long bone of hand with rounded innermost ends") +AnnotationAssertion(Annotation( ) Annotation( ) "Short long bone of hand with rounded innermost ends") AnnotationAssertion( "HP:0006161") AnnotationAssertion(rdfs:label "Short metacarpals with rounded proximal ends") SubClassOf( ) @@ -71465,7 +71458,7 @@ SubClassOf( (Soft tissue swelling of interphalangeal joints) AnnotationAssertion( "UMLS:C1854913") -AnnotationAssertion(Annotation( ) Annotation( ) "Soft tissue swelling of hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Soft tissue swelling of hinge joints") AnnotationAssertion( "HP:0006162") AnnotationAssertion(rdfs:label "Soft tissue swelling of interphalangeal joints") SubClassOf( ) @@ -71481,7 +71474,7 @@ SubClassOf( (Proportionate shortening of all digits) AnnotationAssertion( "UMLS:C1862157") -AnnotationAssertion(Annotation( ) "Proportionate shortening of all digits") +AnnotationAssertion(Annotation( ) "Proportionate shortening of all digits") AnnotationAssertion( "HP:0006165") AnnotationAssertion(rdfs:label "Proportionate shortening of all digits") SubClassOf( ) @@ -71489,7 +71482,7 @@ SubClassOf( (Tubular metacarpal bones) AnnotationAssertion( "UMLS:C1859369") -AnnotationAssertion(Annotation( ) Annotation( ) "Cylindrical shaped long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Cylindrical shaped long bones of hand") AnnotationAssertion( "HP:0006166") AnnotationAssertion(rdfs:label "Tubular metacarpal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71498,7 +71491,7 @@ SubClassOf( (Prominent proximal interphalangeal joints) AnnotationAssertion( "UMLS:C4025085") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent innermost hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent innermost hinge joints") AnnotationAssertion( "HP:0006167") AnnotationAssertion(rdfs:label "Prominent proximal interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71507,7 +71500,7 @@ SubClassOf( (Decreased mobility 3rd-5th fingers) AnnotationAssertion( "UMLS:C1833882") -AnnotationAssertion(Annotation( ) "Decreased mobility 3rd-5th fingers") +AnnotationAssertion(Annotation( ) "Decreased mobility 3rd-5th fingers") AnnotationAssertion( "HP:0006169") AnnotationAssertion(rdfs:label "Decreased mobility 3rd-5th fingers") SubClassOf( ) @@ -71516,7 +71509,7 @@ SubClassOf( ) "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.") AnnotationAssertion( "UMLS:C1862097") -AnnotationAssertion(Annotation( ) Annotation( ) "Chess-pawn shaped outermost bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Chess-pawn shaped outermost bone") AnnotationAssertion( "HP:0006170") AnnotationAssertion(rdfs:label "Chess-pawn distal phalanges") SubClassOf( ) @@ -71524,7 +71517,7 @@ SubClassOf( (Flattened, squared-off epiphyses of tubular bones) AnnotationAssertion( "UMLS:C1834961") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened, squared-off end part of tubular bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened, squared-off end part of tubular bones") AnnotationAssertion( "HP:0006172") AnnotationAssertion(rdfs:label "Flattened, squared-off epiphyses of tubular bones") SubClassOf( ) @@ -71541,7 +71534,7 @@ SubClassOf( (Proximal phalangeal periosteal thickening) -AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of connective tissue of innermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of connective tissue of innermost finger bone") AnnotationAssertion( "UMLS:C1834348") AnnotationAssertion( "UMLS:C4280463") AnnotationAssertion( "HP:0006175") @@ -71562,7 +71555,7 @@ SubClassOf( "HP:0010221") AnnotationAssertion( "UMLS:C1862693") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra bone on end of second long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra bone on end of second long bone of hand") AnnotationAssertion( "Pseudoepiphysis of the 2nd metacarpal") AnnotationAssertion( "HP:0006179") AnnotationAssertion(rdfs:label "Pseudoepiphyses of second metacarpal") @@ -71572,7 +71565,7 @@ SubClassOf( (Crowded carpal bones) -AnnotationAssertion(Annotation( ) Annotation( ) "Crowded wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Crowded wrist bones") AnnotationAssertion( "UMLS:C1863317") AnnotationAssertion( "HP:0006180") AnnotationAssertion(rdfs:label "Crowded carpal bones") @@ -71586,7 +71579,7 @@ AnnotationAssertion( "UMLS:C1857483") AnnotationAssertion( "Hypoplastic palmar creases") AnnotationAssertion( "Poorly formed palmar creases") -AnnotationAssertion(Annotation( ) Annotation( ) "Shallow palm line") +AnnotationAssertion(Annotation( ) Annotation( ) "Shallow palm line") AnnotationAssertion(Annotation( ) "Shallow palmar creases") AnnotationAssertion( "HP:0006184") AnnotationAssertion( ) @@ -71597,7 +71590,7 @@ SubClassOf( (Enlarged proximal interphalangeal joints) AnnotationAssertion( "UMLS:C1861350") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged innermost hinge joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged innermost hinge joint") AnnotationAssertion( "HP:0006185") AnnotationAssertion(rdfs:label "Enlarged proximal interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71628,7 +71621,7 @@ SubClassOf( "PMID:19125433") "Excessively deep creases of the palm.") AnnotationAssertion( "UMLS:C1857539") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep palm line") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep palm line") AnnotationAssertion( "Deep palmar creases") AnnotationAssertion( "HP:0006191") AnnotationAssertion( ) @@ -71640,7 +71633,7 @@ SubClassOf( ) "Phalanges of the fingers becoming thinner toward the distal end.") AnnotationAssertion( "UMLS:C4025084") -AnnotationAssertion(Annotation( ) Annotation( ) "Tapered finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Tapered finger bone") AnnotationAssertion( "HP:0006192") AnnotationAssertion(rdfs:label "Tapered phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71650,7 +71643,7 @@ SubClassOf( ) "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.") AnnotationAssertion( "UMLS:C4025083") -AnnotationAssertion(Annotation( ) Annotation( ) "Thimble-shaped middle bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Thimble-shaped middle bones of hand") AnnotationAssertion( "HP:0006193") AnnotationAssertion(rdfs:label "Thimble-shaped middle phalanges of hand") SubClassOf( ) @@ -71658,7 +71651,7 @@ SubClassOf( (Widened distal phalanges) AnnotationAssertion( "UMLS:C1862421") -AnnotationAssertion(Annotation( ) Annotation( ) "Widened outermost bone of limb") +AnnotationAssertion(Annotation( ) Annotation( ) "Widened outermost bone of limb") AnnotationAssertion( "HP:0006200") AnnotationAssertion(rdfs:label "Widened distal phalanges") SubClassOf( ) @@ -71666,7 +71659,7 @@ SubClassOf( (Hypermobility of distal interphalangeal joints) AnnotationAssertion( "UMLS:C1851811") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased mobility of outermost hinge joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased mobility of outermost hinge joint") AnnotationAssertion( "HP:0006201") AnnotationAssertion(rdfs:label "Hypermobility of distal interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71684,7 +71677,7 @@ SubClassOf( (Decreased movement range in interphalangeal joints) AnnotationAssertion( "UMLS:C1836772") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased range of movement range in hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased range of movement range in hinge joints") AnnotationAssertion( "HP:0006203") AnnotationAssertion(rdfs:label "Decreased movement range in interphalangeal joints") SubClassOf( ) @@ -71694,7 +71687,7 @@ SubClassOf( ) "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.") AnnotationAssertion( "UMLS:C4025081") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular finger bones") AnnotationAssertion( "HP:0006205") AnnotationAssertion(rdfs:label "Irregular phalanges") SubClassOf( ) @@ -71727,7 +71720,7 @@ SubClassOf( (Partial-complete absence of 5th phalanges) AnnotationAssertion( "UMLS:C1867928") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial-complete absence of 5th digital bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial-complete absence of 5th digital bone") AnnotationAssertion( "HP:0006209") AnnotationAssertion(rdfs:label "Partial-complete absence of 5th phalanges") SubClassOf( ) @@ -71744,7 +71737,7 @@ SubClassOf( "Thin proximal phalanges with broad epiphyses") AnnotationAssertion( "UMLS:C1862156") AnnotationAssertion( "UMLS:C4025079") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin innermost bone with broad end part of the hand bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin innermost bone with broad end part of the hand bone") AnnotationAssertion( "HP:0006213") AnnotationAssertion(rdfs:comment "removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal))") AnnotationAssertion(rdfs:label "Thin proximal phalanges with broad epiphyses of the hand") @@ -71764,7 +71757,7 @@ SubClassOf( (Limited mobility of proximal interphalangeal joint) AnnotationAssertion( "UMLS:C1857288") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited mobility of innermost hinge joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited mobility of innermost hinge joint") AnnotationAssertion( "HP:0006217") AnnotationAssertion(rdfs:label "Limited mobility of proximal interphalangeal joint") SubClassOf( ) @@ -71833,7 +71826,7 @@ SubClassOf( ) "Decreased width of the metacarpal bones (that is, reduced diameter).") AnnotationAssertion( "UMLS:C4025077") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender long bones of hand") AnnotationAssertion( "HP:0006236") AnnotationAssertion(rdfs:label "Slender metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71842,7 +71835,7 @@ SubClassOf( (Prominent interphalangeal joints) AnnotationAssertion( "UMLS:C1859115") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent hinge joints") AnnotationAssertion( "HP:0006237") AnnotationAssertion(rdfs:label "Prominent interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71853,7 +71846,7 @@ SubClassOf( ) "Abnormal shortening of all middle phalanges of toes.") AnnotationAssertion( "UMLS:C4021605") AnnotationAssertion( "Brachymesophalangy of feet") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all the middle bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all the middle bones of the toes") AnnotationAssertion( "HP:0006239") AnnotationAssertion(rdfs:label "Shortening of all middle phalanges of the toes") SubClassOf( ) @@ -71869,7 +71862,7 @@ SubClassOf( (Enlarged interphalangeal joints) AnnotationAssertion( "UMLS:C1859701") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged hinge joints") AnnotationAssertion( "HP:0006247") AnnotationAssertion(rdfs:label "Enlarged interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71880,8 +71873,8 @@ SubClassOf( ) "An abnormal limitation of the mobility of the wrist.") AnnotationAssertion( "UMLS:C1840088") -AnnotationAssertion(Annotation( ) "Limited movement of the wrist") -AnnotationAssertion(Annotation( ) "Limited wrist movement") +AnnotationAssertion(Annotation( ) "Limited movement of the wrist") +AnnotationAssertion(Annotation( ) "Limited wrist movement") AnnotationAssertion( "HP:0006248") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Limited wrist movement") @@ -71905,7 +71898,7 @@ SubClassOf( (Swelling of proximal interphalangeal joints) AnnotationAssertion( "UMLS:C1860841") -AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of innermost hinge joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of innermost hinge joints") AnnotationAssertion( "HP:0006253") AnnotationAssertion(rdfs:label "Swelling of proximal interphalangeal joints") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71933,7 +71926,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-28T10:14:00Z") AnnotationAssertion( "UMLS:C4025076") -AnnotationAssertion(Annotation( ) "Abnormality of hand joint mobility") +AnnotationAssertion(Annotation( ) "Abnormality of hand joint mobility") AnnotationAssertion( "HP:0006256") AnnotationAssertion(rdfs:label "Abnormality of hand joint mobility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71945,7 +71938,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-28T02:29:00Z") AnnotationAssertion( "UMLS:C4025075") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wrist bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wrist bone maturation") AnnotationAssertion( "HP:0006257") AnnotationAssertion(rdfs:label "Abnormality of carpal bone ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -71959,7 +71952,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004266") AnnotationAssertion( "UMLS:C4021604") AnnotationAssertion( "Abnormality of phalangeal joints of the hand") -AnnotationAssertion(Annotation( ) "Abnormality of the small joints of the hand") +AnnotationAssertion(Annotation( ) "Abnormality of the small joints of the hand") AnnotationAssertion( "HP:0006261") AnnotationAssertion(rdfs:label "Abnormal phalangeal joint morphology of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71971,12 +71964,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T02:59:00Z") AnnotationAssertion( "UMLS:C4025074") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinky finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky finger") AnnotationAssertion( "HP:0006262") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -71989,7 +71982,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T03:04:00Z") AnnotationAssertion( "UMLS:C4025073") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the index finger bone") AnnotationAssertion( "HP:0006263") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -72002,8 +71995,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T03:06:00Z") AnnotationAssertion( "UMLS:C4025072") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small index finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped index finger") AnnotationAssertion( "HP:0006264") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72016,8 +72009,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T03:09:00Z") AnnotationAssertion( "UMLS:C4025071") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped fingers") AnnotationAssertion( "HP:0006265") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of fingers") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72029,7 +72022,7 @@ SubClassOf( ) "Reduced size of the placenta.") AnnotationAssertion( "SNOMEDCT_US:289264006") AnnotationAssertion( "UMLS:C0566694") -AnnotationAssertion(Annotation( ) "Small placenta") +AnnotationAssertion(Annotation( ) "Small placenta") AnnotationAssertion( "HP:0006266") AnnotationAssertion(rdfs:label "Small placenta") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72040,7 +72033,7 @@ SubClassOf( ) "Increased size of the placenta.") AnnotationAssertion( "SNOMEDCT_US:289263000") AnnotationAssertion( "UMLS:C0566693") -AnnotationAssertion(Annotation( ) "Large placenta") +AnnotationAssertion(Annotation( ) "Large placenta") AnnotationAssertion( "Placental enlargement") AnnotationAssertion( "HP:0006267") AnnotationAssertion(rdfs:label "Large placenta") @@ -72059,7 +72052,7 @@ SubClassOf( ) "Underdevelopment of the spleen.") AnnotationAssertion( "UMLS:C1970617") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped spleen") AnnotationAssertion( "HP:0006270") AnnotationAssertion(rdfs:label "Hypoplastic spleen") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72107,7 +72100,7 @@ SubClassOf( ) "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.") AnnotationAssertion( "SNOMEDCT_US:264304000") AnnotationAssertion( "UMLS:C0994638") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal pancreas location") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal pancreas location") AnnotationAssertion( "HP:0006278") AnnotationAssertion(rdfs:label "Ectopic pancreatic tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -72129,7 +72122,7 @@ AnnotationAssertion( "SNOMEDCT_US:234689009") AnnotationAssertion( "SNOMEDCT_US:235494005") AnnotationAssertion( "UMLS:C0149521") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic pancreas inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic pancreas inflammation") AnnotationAssertion( "HP:0006280") AnnotationAssertion(rdfs:label "Chronic pancreatitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -72155,8 +72148,8 @@ SubClassOf( ) "The presence of multiple embedded tooth germs which have failed to erupt.") AnnotationAssertion( "UMLS:C4025069") AnnotationAssertion(Annotation( ) "Failure of eruption of multiple teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple non-erupting teeth") -AnnotationAssertion(Annotation( ) "Multiple unerupted teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple non-erupting teeth") +AnnotationAssertion(Annotation( ) "Multiple unerupted teeth") AnnotationAssertion( "HP:0006283") AnnotationAssertion(rdfs:label "Multiple unerupted teeth") SubClassOf( ) @@ -72173,7 +72166,7 @@ AnnotationAssertion( "Decreased enamel mineralisation") AnnotationAssertion( "Hypomineralization of enamel") AnnotationAssertion(Annotation( ) "Mottled tooth enamel") -AnnotationAssertion(Annotation( ) Annotation( ) "Poorly mineralized tooth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Poorly mineralized tooth enamel") AnnotationAssertion(Annotation( ) "Increased porosity of tooth enamel") AnnotationAssertion(Annotation( ) "Fluorosis of tooth enamel") AnnotationAssertion(Annotation( ) "White spot lesions of tooth enamel") @@ -72186,8 +72179,8 @@ SubClassOf( (Yellow-brown discoloration of the teeth) AnnotationAssertion( "UMLS:C1863008") -AnnotationAssertion(Annotation( ) "Yellow-brown discoloration of the teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Yellow-brown discolored teeth") +AnnotationAssertion(Annotation( ) "Yellow-brown discoloration of the teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Yellow-brown discolored teeth") AnnotationAssertion(Annotation( ) "Yellow-brown discoloured teeth") AnnotationAssertion(Annotation( ) "Yellow-brown tooth shade") AnnotationAssertion( "HP:0006286") @@ -72203,7 +72196,7 @@ AnnotationAssertion( ) "Advanced dental eruption") AnnotationAssertion( "Advanced tooth eruption") AnnotationAssertion(Annotation( ) "Early dental eruption") -AnnotationAssertion(Annotation( ) Annotation( ) "Early eruption of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Early eruption of teeth") AnnotationAssertion( "Eruption, advanced") AnnotationAssertion(Annotation( ) "Premature dental eruption") AnnotationAssertion( "Premature eruption of teeth") @@ -72219,10 +72212,10 @@ AnnotationAssertion(Annotation( "HP:0006320") AnnotationAssertion( "UMLS:C1855000") AnnotationAssertion( "UMLS:C4020819") -AnnotationAssertion(Annotation( ) "Absent central incisor") +AnnotationAssertion(Annotation( ) "Absent central incisor") AnnotationAssertion(Annotation( ) "Failure of development of central incisor") -AnnotationAssertion(Annotation( ) "Absent central incisors") -AnnotationAssertion(Annotation( ) "Missing central incisors") +AnnotationAssertion(Annotation( ) "Absent central incisors") +AnnotationAssertion(Annotation( ) "Missing central incisors") AnnotationAssertion( "HP:0006289") AnnotationAssertion(rdfs:label "Agenesis of central incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72231,12 +72224,12 @@ SubClassOf( (Discolored lateral incisors) AnnotationAssertion(Annotation( ) "The presence of discolored lateral incisors.") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of color of front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of color of front teeth") AnnotationAssertion(Annotation( ) "Abnormality of color of lateral incisor") AnnotationAssertion(Annotation( ) "Abnormality of colour of front teeth") AnnotationAssertion(Annotation( ) "Abnormality of colour of lateral incisor") AnnotationAssertion(Annotation( ) "Abnormality of shade of lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Discolored front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Discolored front teeth") AnnotationAssertion(Annotation( ) "Discoloured front teeth") AnnotationAssertion( "UMLS:C1866510") AnnotationAssertion( "UMLS:C4280459") @@ -72248,10 +72241,10 @@ SubClassOf( (Marked delay in eruption of permanent teeth) AnnotationAssertion( "UMLS:C1863009") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe delay of eruption of adult teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe delay of eruption of permanent teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Very late eruption of adult teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Very late eruption of permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe delay of eruption of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe delay of eruption of permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Very late eruption of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Very late eruption of permanent teeth") AnnotationAssertion( "HP:0006291") AnnotationAssertion(rdfs:label "Marked delay in eruption of permanent teeth") SubClassOf( ) @@ -72265,13 +72258,13 @@ AnnotationAssertion( "UMLS:C1859363") AnnotationAssertion( "UMLS:C3874458") AnnotationAssertion( "Abnormal dental eruption") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth eruption") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth eruption") AnnotationAssertion(Annotation( ) "Anomaly of dental eruption") AnnotationAssertion(Annotation( ) "Anomaly of tooth eruption") AnnotationAssertion(Annotation( ) "Disorder of dental eruption") AnnotationAssertion(Annotation( ) "Disorder of tooth eruption") AnnotationAssertion(Annotation( ) "Disturbance of dental eruption") -AnnotationAssertion(Annotation( ) Annotation( ) "Disturbance of tooth eruption") +AnnotationAssertion(Annotation( ) Annotation( ) "Disturbance of tooth eruption") AnnotationAssertion( "HP:0006292") AnnotationAssertion(rdfs:comment "The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars.") AnnotationAssertion(rdfs:label "Abnormality of dental eruption") @@ -72285,7 +72278,7 @@ AnnotationAssertion( ) "Failure of development of maxillary central incisor") AnnotationAssertion(Annotation( ) "Absence of maxillary central incisor") AnnotationAssertion(Annotation( ) "Missing maxillary central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper central incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper central incisor") AnnotationAssertion( "HP:0006293") AnnotationAssertion(rdfs:label "Agenesis of maxillary central incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72299,8 +72292,8 @@ AnnotationAssertion( "HP:0001565") AnnotationAssertion( "HP:0003770") AnnotationAssertion(Annotation( ) "Defective enamel matrix") -AnnotationAssertion(Annotation( ) "Thin dental enamel") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin tooth enamel") +AnnotationAssertion(Annotation( ) "Thin dental enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin tooth enamel") AnnotationAssertion( "MSH:D003744") AnnotationAssertion( "SNOMEDCT_US:26597004") AnnotationAssertion( "SNOMEDCT_US:699382004") @@ -72314,7 +72307,7 @@ AnnotationAssertion( "Enamel, underdeveloped") AnnotationAssertion( "Hypoplasia of dental enamel") AnnotationAssertion(Annotation( ) "Hypoplasia of tooth enamel") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped teeth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Underdeveloped teeth enamel") AnnotationAssertion(Annotation( ) "Dysplasia of tooth enamel") AnnotationAssertion( "Enamel dysplasia") AnnotationAssertion( "HP:0006297") @@ -72328,7 +72321,7 @@ SubClassOf( ) Annotation( ) "Prolonged bleeding post dental extraction sufficient to require medical intervention.") AnnotationAssertion( "UMLS:C1969572") -AnnotationAssertion(Annotation( ) "Prolonged bleeding after dental extraction") +AnnotationAssertion(Annotation( ) "Prolonged bleeding after dental extraction") AnnotationAssertion( "HP:0006298") AnnotationAssertion(rdfs:label "Prolonged bleeding after dental extraction") SubClassOf( ) @@ -72349,8 +72342,8 @@ SubClassOf( "SNOMEDCT_US:196409003") AnnotationAssertion( "UMLS:C0399545") AnnotationAssertion(Annotation( ) "Anterior diastema of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Gap between front teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Widely spaced front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Gap between front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Widely spaced front teeth") AnnotationAssertion(Annotation( ) "Diastema between front teeth") AnnotationAssertion(Annotation( ) "Diastema between incisors") AnnotationAssertion( "HP:0006304") @@ -72369,12 +72362,12 @@ AnnotationAssertion(Annotation( ) "Resorption of alveolar processes of jaw") AnnotationAssertion(Annotation( ) "Resorption of alveolar ridges") AnnotationAssertion(Annotation( ) "Shrinking of alveolar ridges") -AnnotationAssertion(Annotation( ) Annotation( ) "Shrinking of gum ridges") +AnnotationAssertion(Annotation( ) Annotation( ) "Shrinking of gum ridges") AnnotationAssertion( "Alveolar bone loss") AnnotationAssertion(Annotation( ) "Flattening of alveolar margin") AnnotationAssertion(Annotation( ) "Flattening of alveolar processes of jaw") AnnotationAssertion(Annotation( ) "Flattening of alveolar ridges") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of gum ridges") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of gum ridges") AnnotationAssertion( "HP:0006308") AnnotationAssertion(rdfs:label "Atrophy of alveolar ridges") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72383,12 +72376,12 @@ SubClassOf( (Generalized microdontia) AnnotationAssertion(Annotation( ) "A generalized form of microdontia.") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of all teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of all teeth") AnnotationAssertion(Annotation( ) "Hypotrophy of all teeth") AnnotationAssertion(Annotation( ) "Tooth mass insufficiency") AnnotationAssertion( "UMLS:C4025065") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tooth mass") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of all teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tooth mass") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of all teeth") AnnotationAssertion(Annotation( ) "Generalised microdontia") AnnotationAssertion( "HP:0006311") AnnotationAssertion(rdfs:label "Generalized microdontia") @@ -72400,11 +72393,11 @@ AnnotationAssertion(Annotation( "UMLS:C4021603") AnnotationAssertion(Annotation( ) "Generalised spacing of primary teeth") AnnotationAssertion(Annotation( ) "Generalized spacing of primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide gaps between baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide gaps between baby teeth") AnnotationAssertion(Annotation( ) "Wide gaps between primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Widely spaced baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Widely spaced baby teeth") AnnotationAssertion( "Widely spaced deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Widely spaced milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Widely spaced milk teeth") AnnotationAssertion( "HP:0006313") AnnotationAssertion(rdfs:label "Widely spaced primary teeth") SubClassOf( ) @@ -72419,7 +72412,7 @@ AnnotationAssertion( "MSH:C537342") AnnotationAssertion( "SNOMEDCT_US:707609006") AnnotationAssertion( "UMLS:C1840235") -AnnotationAssertion(Annotation( ) Annotation( ) "Only one upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Only one upper front tooth") AnnotationAssertion( "Single central incisor") AnnotationAssertion( "Single central upper incisor") AnnotationAssertion( "Single maxillary central incisor") @@ -72441,10 +72434,10 @@ SubClassOf( ) "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.") AnnotationAssertion( "HP:0009081") AnnotationAssertion( "UMLS:C1845878") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular dental spacing") -AnnotationAssertion(Annotation( ) "Irregularly spaced teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular dental spacing") +AnnotationAssertion(Annotation( ) "Irregularly spaced teeth") AnnotationAssertion(Annotation( ) "Variability of dental spacing") -AnnotationAssertion(Annotation( ) Annotation( ) "Variability of spacing between teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Variability of spacing between teeth") AnnotationAssertion( "HP:0006316") AnnotationAssertion(rdfs:label "Irregularly spaced teeth") SubClassOf( ) @@ -72470,11 +72463,11 @@ AnnotationAssertion( "SNOMEDCT_US:122483006") AnnotationAssertion( "SNOMEDCT_US:39034005") AnnotationAssertion( "UMLS:C0266052") -AnnotationAssertion(Annotation( ) Annotation( ) "Early loss of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Early loss of baby teeth") AnnotationAssertion(Annotation( ) "Early loss of deciduous teeth") AnnotationAssertion(Annotation( ) "Early loss of primary teeth") AnnotationAssertion( "Premature deciduous tooth loss") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature loss of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature loss of baby teeth") AnnotationAssertion( "Premature loss of deciduous teeth") AnnotationAssertion(Annotation( ) "Premature exfoliation of deciduous teeth") AnnotationAssertion(Annotation( ) "Premature exfoliation of primary teeth") @@ -72527,10 +72520,10 @@ SubClassOf( (Rotated maxillary central incisors) AnnotationAssertion( "UMLS:C4025063") -AnnotationAssertion(Annotation( ) Annotation( ) "Rotated upper central incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Rotated upper front teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Turned upper front teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Twisted upper front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Rotated upper central incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Rotated upper front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Turned upper front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Twisted upper front teeth") AnnotationAssertion( "HP:0006330") AnnotationAssertion(rdfs:label "Rotated maxillary central incisors") SubClassOf( ) @@ -72539,7 +72532,7 @@ SubClassOf( ) "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.") AnnotationAssertion( "UMLS:C4025062") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra upper front tooth") AnnotationAssertion( "HP:0006332") AnnotationAssertion(rdfs:label "Supernumerary maxillary incisor") SubClassOf( ) @@ -72549,10 +72542,10 @@ SubClassOf( ) "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.") AnnotationAssertion( "UMLS:C4021602") -AnnotationAssertion(Annotation( ) Annotation( ) "Crowded upper front teeth") -AnnotationAssertion(Annotation( ) "Crowded upper incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Crowded upper front teeth") +AnnotationAssertion(Annotation( ) "Crowded upper incisors") AnnotationAssertion(Annotation( ) "Overlapped maxillary incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Overlapped upper front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Overlapped upper front teeth") AnnotationAssertion( "HP:0006333") AnnotationAssertion(rdfs:label "Crowded maxillary incisors") SubClassOf( ) @@ -72562,16 +72555,16 @@ SubClassOf( ) "Developmental hypoplasia of the primary teeth.") AnnotationAssertion( "HP:0006318") AnnotationAssertion( "UMLS:C1855694") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of baby teeth") AnnotationAssertion(Annotation( ) "Decreased size of deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of milk teeth") AnnotationAssertion(Annotation( ) "Decreased size of primary teeth") AnnotationAssertion( "Hypoplastic deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Small baby teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Small milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small milk teeth") AnnotationAssertion(Annotation( ) "Small primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of baby teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of milk teeth") AnnotationAssertion(Annotation( ) "Underdevelopment of primary teeth") AnnotationAssertion( "HP:0006334") AnnotationAssertion(rdfs:label "Hypoplasia of the primary teeth") @@ -72590,17 +72583,17 @@ AnnotationAssertion( "SNOMEDCT_US:57650002") AnnotationAssertion( "UMLS:C0266050") AnnotationAssertion( "Deciduous teeth retention") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed loss of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed loss of baby teeth") AnnotationAssertion(Annotation( ) "Delayed loss of deciduous teeth") AnnotationAssertion( "Delayed loss of primary teeth") AnnotationAssertion(Annotation( ) "Failure to exfoliate deciduous teeth") AnnotationAssertion(Annotation( ) "Failure to exfoliate primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure to lose baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure to lose baby teeth") AnnotationAssertion( "Persistence of deciduous teeth") AnnotationAssertion(Annotation( ) "Persistent deciduous dentition") AnnotationAssertion( "Persistent primary dentition") AnnotationAssertion( "Persistent primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Retained baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Retained baby teeth") AnnotationAssertion( "Retained deciduous teeth") AnnotationAssertion(Annotation( ) "Retained primary teeth") AnnotationAssertion( "HP:0006335") @@ -72613,17 +72606,17 @@ SubClassOf( (Short dental root) AnnotationAssertion(Annotation( ) Annotation( "PMID:31468724") "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped tooth roots") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped tooth roots") AnnotationAssertion( "UMLS:C2678330") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of dental roots") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of tooth roots") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of dental roots") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of tooth roots") AnnotationAssertion( "Dental root hypoplasia") AnnotationAssertion( "Dental root hypotrophy") AnnotationAssertion( "Rhizomicry") AnnotationAssertion( "Root dwarfism") -AnnotationAssertion(Annotation( ) "Short dental roots") -AnnotationAssertion(Annotation( ) Annotation( ) "Short tooth roots") -AnnotationAssertion(Annotation( ) "Underdeveloped dental roots") +AnnotationAssertion(Annotation( ) "Short dental roots") +AnnotationAssertion(Annotation( ) Annotation( ) "Short tooth roots") +AnnotationAssertion(Annotation( ) "Underdeveloped dental roots") AnnotationAssertion( "HP:0006336") AnnotationAssertion(rdfs:label "Short dental root") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72633,11 +72626,11 @@ SubClassOf( ) "Premature tooth eruption of the permanent dentition.") AnnotationAssertion( "UMLS:C4021601") -AnnotationAssertion(Annotation( ) Annotation( ) "Early eruption of adult teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Early eruption of permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Early eruption of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Early eruption of permanent teeth") AnnotationAssertion( "Precocious eruption of secondary dentition") AnnotationAssertion( "Precocious eruption of secondary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature eruption of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature eruption of adult teeth") AnnotationAssertion( "HP:0006337") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Premature eruption of permanent teeth") @@ -72647,7 +72640,7 @@ SubClassOf( ) "An abnormality of the morphology of secondary premolar tooth.") AnnotationAssertion( "UMLS:C4025061") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of lower premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of lower premolar") AnnotationAssertion(Annotation( ) "Malformation of mandibular bicuspid") AnnotationAssertion( "HP:0006338") AnnotationAssertion(rdfs:label "Malformation of mandibular premolar") @@ -72660,10 +72653,10 @@ AnnotationAssertion(Annotation( "UMLS:C4020818") AnnotationAssertion( "UMLS:C4280449") AnnotationAssertion( "UMLS:C4280450") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped lower front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped lower front tooth") AnnotationAssertion(Annotation( ) "Conoid mandibular incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Lower front shark tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped lower front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Lower front shark tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped lower front tooth") AnnotationAssertion(Annotation( ) "Peg shaped mandibular incisor") AnnotationAssertion(Annotation( ) "Pointed mandibular incisor") AnnotationAssertion( "Pointed mandibular incisors") @@ -72693,7 +72686,7 @@ SubClassOf( ) "An abnormality of morphology of primary molar.") AnnotationAssertion( "UMLS:C4025059") AnnotationAssertion(Annotation( ) "Abnormality of deciduous molar morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of baby molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of baby molar") AnnotationAssertion(Annotation( ) "Abnormality of shape of primary molar") AnnotationAssertion( "HP:0006344") AnnotationAssertion(rdfs:label "Abnormality of primary molar morphology") @@ -72705,8 +72698,8 @@ SubClassOf( ) "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.") AnnotationAssertion( "UMLS:C4025058") -AnnotationAssertion(Annotation( ) Annotation( ) "Screwdriver shaped front teeth") -AnnotationAssertion(Annotation( ) "Screwdriver-shaped incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Screwdriver shaped front teeth") +AnnotationAssertion(Annotation( ) "Screwdriver-shaped incisors") AnnotationAssertion( "HP:0006346") AnnotationAssertion(rdfs:label "Screwdriver-shaped incisors") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72718,9 +72711,9 @@ AnnotationAssertion(Annotation( ) "Decreased size of primary tooth") AnnotationAssertion( "UMLS:C1855694") AnnotationAssertion( "UMLS:C1856203") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of baby teeth") AnnotationAssertion(Annotation( ) "Decreased width of deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of milk teeth") AnnotationAssertion(Annotation( ) "Decreased width of primary tooth") AnnotationAssertion(Annotation( ) "Microdontia of deciduous teeth") AnnotationAssertion( "Small deciduous teeth") @@ -72744,9 +72737,9 @@ AnnotationAssertion( "Absent permanent teeth") AnnotationAssertion(Annotation( ) "Agenesis of permanent dentition") AnnotationAssertion(Annotation( ) "Agenesis of secondary dentition") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of permanent teeth") AnnotationAssertion(Annotation( ) "Failure of development of secondary teeth") -AnnotationAssertion(Annotation( ) "Missing teeth") +AnnotationAssertion(Annotation( ) "Missing teeth") AnnotationAssertion( "HP:0006349") AnnotationAssertion(rdfs:label "Agenesis of permanent teeth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72775,9 +72768,9 @@ SubClassOf( ) "Lack of tooth eruption of the secondary dentition.") AnnotationAssertion( "HP:0006309") AnnotationAssertion(Annotation( ) "Unerupted adult dentition") -AnnotationAssertion(Annotation( ) Annotation( ) "Unerupted adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Unerupted adult teeth") AnnotationAssertion(Annotation( ) "Unerupted permanent dentition") -AnnotationAssertion(Annotation( ) Annotation( ) "Unerupted permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Unerupted permanent teeth") AnnotationAssertion( "UMLS:C4025056") AnnotationAssertion( "UMLS:C4280447") AnnotationAssertion(Annotation( ) "Failure of eruption of adult teeth") @@ -72788,13 +72781,13 @@ SubClassOf( (Hypoplasia of the tooth germ) AnnotationAssertion(Annotation( ) "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of tooth bud") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of tooth bud") AnnotationAssertion(Annotation( ) "Underdevelopment of tooth germ") AnnotationAssertion( "UMLS:C4025055") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of tooth bud") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of tooth bud") AnnotationAssertion(Annotation( ) "Decreased size of tooth germ") AnnotationAssertion(Annotation( ) "Hypotrophic tooth germ") -AnnotationAssertion(Annotation( ) Annotation( ) "Small tooth bud") +AnnotationAssertion(Annotation( ) Annotation( ) "Small tooth bud") AnnotationAssertion(Annotation( ) "Small tooth germ") AnnotationAssertion( "Hypoplastic tooth buds") AnnotationAssertion( "HP:0006353") @@ -72807,9 +72800,9 @@ AnnotationAssertion(Annotation( "UMLS:C1840225") AnnotationAssertion( "UMLS:C4025054") AnnotationAssertion(Annotation( ) "Failure of development of mandibular central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower central incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower central incisor") AnnotationAssertion(Annotation( ) "Absence of mandibular central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower central incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower central incisor") AnnotationAssertion(Annotation( ) "Missing mandibular central incisor") AnnotationAssertion( "HP:0006355") AnnotationAssertion(rdfs:label "Agenesis of mandibular central incisor") @@ -72821,10 +72814,10 @@ SubClassOf( ) "Premature loss of the permanent teeth.") AnnotationAssertion( "UMLS:C1969738") -AnnotationAssertion(Annotation( ) Annotation( ) "Early loss of adult teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Early loss of permanent teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Early loss of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Early loss of permanent teeth") AnnotationAssertion(Annotation( ) "Early loss of secondary dentition") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature loss of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature loss of adult teeth") AnnotationAssertion( "Premature loss of secondary teeth") AnnotationAssertion( "HP:0006357") AnnotationAssertion(rdfs:label "Premature loss of permanent teeth") @@ -72835,7 +72828,7 @@ SubClassOf( "PMID:2212205") Annotation( "PMID:31468724") "A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.") AnnotationAssertion( "UMLS:C1833168") AnnotationAssertion( "Shovel tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Shovel-shaped upper front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Shovel-shaped upper front teeth") AnnotationAssertion( "HP:0006358") AnnotationAssertion(rdfs:label "Shovel-shaped maxillary central incisors") SubClassOf( ) @@ -72843,7 +72836,7 @@ SubClassOf( (Irregular femoral epiphysis) AnnotationAssertion( "UMLS:C1850658") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular thighbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular thighbone end part") AnnotationAssertion( "HP:0006361") AnnotationAssertion(rdfs:label "Irregular femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -72869,7 +72862,7 @@ SubClassOf( ) "An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.") AnnotationAssertion( "UMLS:C1970497") -AnnotationAssertion(Annotation( ) "Crumpled long bones") +AnnotationAssertion(Annotation( ) "Crumpled long bones") AnnotationAssertion( "HP:0006367") AnnotationAssertion(rdfs:label "Crumpled long bones") SubClassOf( ) @@ -72909,8 +72902,8 @@ SubClassOf( ) "Increased width of the diaphysis of long bones.") AnnotationAssertion( "UMLS:C4025053") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide shaft of long bone") AnnotationAssertion( "HP:0006371") AnnotationAssertion(rdfs:label "Broad long bone diaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -72920,7 +72913,7 @@ SubClassOf( ) "The femur is shortened and displays flaring (widening) of the metaphyses.") AnnotationAssertion( "UMLS:C4025052") -AnnotationAssertion(Annotation( ) Annotation( ) "Dumbbell-shaped thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Dumbbell-shaped thighbone") AnnotationAssertion( "HP:0006375") AnnotationAssertion(rdfs:label "Dumbbell-shaped femur") SubClassOf( ) @@ -72955,7 +72948,7 @@ SubClassOf( ) Annotation( "PMID:31282072") "A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.") AnnotationAssertion( "HP:0002978") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to straighten knee") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to straighten knee") AnnotationAssertion( "SNOMEDCT_US:202289003") AnnotationAssertion( "UMLS:C0409355") AnnotationAssertion( "Flexion contracture of knees") @@ -72977,7 +72970,7 @@ AnnotationAssertion( "HP:0004986") AnnotationAssertion( "UMLS:C1844706") AnnotationAssertion( "Rudimentary to absent fibulae") -AnnotationAssertion(Annotation( ) Annotation( ) "Small to absent calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small to absent calf bone") AnnotationAssertion( "Small to absent fibula") AnnotationAssertion( "HP:0006381") AnnotationAssertion(rdfs:label "Rudimentary fibula") @@ -72998,7 +72991,7 @@ AnnotationAssertion(Annotation( "HP:0006447") AnnotationAssertion( "UMLS:C1857505") AnnotationAssertion( "Club-shaped distal femora") -AnnotationAssertion(Annotation( ) Annotation( ) "Club-shaped outermost end of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Club-shaped outermost end of thighbone") AnnotationAssertion( "HP:0006384") AnnotationAssertion(rdfs:comment "previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal))") AnnotationAssertion(rdfs:label "Club-shaped distal femur") @@ -73010,8 +73003,8 @@ AnnotationAssertion(Annotation( "HP:0003054") AnnotationAssertion( "SNOMEDCT_US:249786007") AnnotationAssertion( "UMLS:C0426901") -AnnotationAssertion(Annotation( ) "Short legs") -AnnotationAssertion(Annotation( ) "Short lower limbs") +AnnotationAssertion(Annotation( ) "Short legs") +AnnotationAssertion(Annotation( ) "Short lower limbs") AnnotationAssertion( "HP:0006385") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short lower limbs") @@ -73031,7 +73024,7 @@ SubClassOf( ) "Increased width of the distal part of the shaft (metaphysis) of the femur.") AnnotationAssertion( "UMLS:C1849309") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost wide portion of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost wide portion of thighbone") AnnotationAssertion( "Wide distal metaphysis of femur") AnnotationAssertion( "HP:0006387") AnnotationAssertion(rdfs:label "Wide distal femoral metaphysis") @@ -73067,7 +73060,7 @@ SubClassOf( ) "An abnormal increase in the bone density of the long bones.") AnnotationAssertion( "UMLS:C1849307") -AnnotationAssertion(Annotation( ) "Increased density of long bones") +AnnotationAssertion(Annotation( ) "Increased density of long bones") AnnotationAssertion( "HP:0006392") AnnotationAssertion(rdfs:label "Increased density of long bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73078,7 +73071,7 @@ SubClassOf( ) "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).") AnnotationAssertion( "UMLS:C1861331") -AnnotationAssertion(Annotation( ) "Limited pronation/supination of forearm") +AnnotationAssertion(Annotation( ) "Limited pronation/supination of forearm") AnnotationAssertion( "HP:0006394") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Limited pronation/supination of forearm") @@ -73095,7 +73088,7 @@ SubClassOf( ) "An abnormal flattening of the distal epiphysis of femur.") AnnotationAssertion( "UMLS:C4021599") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat end part of outermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat end part of outermost thighbone") AnnotationAssertion( "Flattened distal femoral epiphyses") AnnotationAssertion( "HP:0006398") AnnotationAssertion(rdfs:label "Flat distal femoral epiphysis") @@ -73106,7 +73099,7 @@ SubClassOf( (Absent knee epiphyses) AnnotationAssertion( "UMLS:C1859462") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent knee end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent knee end part") AnnotationAssertion( "HP:0006400") AnnotationAssertion(rdfs:label "Absent knee epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -73116,7 +73109,7 @@ SubClassOf( (Distal shortening of limbs) AnnotationAssertion( "UMLS:C1840307") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outer part of limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outer part of limbs") AnnotationAssertion( "HP:0006402") AnnotationAssertion(rdfs:label "Distal shortening of limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73126,7 +73119,7 @@ SubClassOf( ) "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.") AnnotationAssertion( "UMLS:C1968611") -AnnotationAssertion(Annotation( ) Annotation( ) "Club-shaped innermost end of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Club-shaped innermost end of thighbone") AnnotationAssertion( "HP:0006406") AnnotationAssertion(rdfs:comment "previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal))") AnnotationAssertion(rdfs:label "Club-shaped proximal femur") @@ -73136,7 +73129,7 @@ SubClassOf( ) "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.") AnnotationAssertion( "UMLS:C4025050") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular outermost thighbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular outermost thighbone end part") AnnotationAssertion( "HP:0006407") AnnotationAssertion(rdfs:label "Irregular distal femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73146,7 +73139,7 @@ SubClassOf( (Distal tapering femur) AnnotationAssertion( "UMLS:C4025049") -AnnotationAssertion(Annotation( ) Annotation( ) "Tapering of outermost end of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Tapering of outermost end of thighbone") AnnotationAssertion( "HP:0006408") AnnotationAssertion(rdfs:label "Distal tapering femur") SubClassOf( ) @@ -73162,8 +73155,8 @@ SubClassOf( (Broad tibial metaphyses) AnnotationAssertion( "UMLS:C2678328") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of shinbone") AnnotationAssertion( "HP:0006413") AnnotationAssertion(rdfs:label "Broad tibial metaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73192,7 +73185,7 @@ SubClassOf( (Broad femoral metaphyses) AnnotationAssertion( "UMLS:C1864854") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad wide portion of thigh bone") AnnotationAssertion( "HP:0006417") AnnotationAssertion(rdfs:label "Broad femoral metaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73252,7 +73245,7 @@ SubClassOf( ) "An anomaly of the metaphysis of the proximal femur (close to the hip).") AnnotationAssertion( "UMLS:C4025047") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wide portion of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal wide portion of innermost thighbone") AnnotationAssertion( "HP:0006431") AnnotationAssertion(rdfs:label "Proximal femoral metaphyseal abnormality") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73304,7 +73297,7 @@ SubClassOf( ) "An abnormal enlargement of the distal epiphysis of the femur.") AnnotationAssertion( "UMLS:C1843105") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the outermost thighbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlargement of the outermost thighbone end part") AnnotationAssertion( "Large distal femoral epiphyses") AnnotationAssertion( "HP:0006438") AnnotationAssertion(rdfs:label "Enlargement of the distal femoral epiphysis") @@ -73323,7 +73316,7 @@ SubClassOf( (Increased density of long bone diaphyses) AnnotationAssertion( "UMLS:C1844516") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased density of shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased density of shaft of long bone") AnnotationAssertion( "HP:0006440") AnnotationAssertion(rdfs:label "Increased density of long bone diaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -73341,8 +73334,8 @@ SubClassOf( "PMID:880750") "Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.") AnnotationAssertion( "UMLS:C1859478") -AnnotationAssertion(Annotation( ) Annotation( ) "Small innermost upper end of calf bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped innermost upper end of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small innermost upper end of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped innermost upper end of calf bone") AnnotationAssertion( "HP:0006442") AnnotationAssertion(rdfs:label "Hypoplasia of proximal fibula") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73354,7 +73347,7 @@ AnnotationAssertion(Annotation( "HP:0003046") AnnotationAssertion( "HP:0006475") AnnotationAssertion( "UMLS:C1868578") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent kneecap") AnnotationAssertion( "Absent patella") AnnotationAssertion( "Absent patellae") AnnotationAssertion( "Absent patellas") @@ -73407,7 +73400,7 @@ AnnotationAssertion(Annotation( "UMLS:C4021597") AnnotationAssertion( "UMLS:C4280446") AnnotationAssertion( "Delayed patellae ossification") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed bone maturation of the knee cap") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed bone maturation of the knee cap") AnnotationAssertion( "HP:0006454") AnnotationAssertion(rdfs:comment "The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496).") AnnotationAssertion(rdfs:label "Delayed patellar ossification") @@ -73419,8 +73412,8 @@ SubClassOf( ) "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.") AnnotationAssertion( "UMLS:C4025045") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular innermost shankbone end part") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular innermost shinbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular innermost shankbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular innermost shinbone end part") AnnotationAssertion( "HP:0006456") AnnotationAssertion(rdfs:label "Irregular proximal tibial epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73451,7 +73444,7 @@ AnnotationAssertion( "UMLS:C0149887") AnnotationAssertion( "Slipped capital femoral epiphyses") AnnotationAssertion( "Slipped capital femoral epiphysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Slipped end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Slipped end part of innermost thighbone") AnnotationAssertion( "HP:0006461") AnnotationAssertion(rdfs:label "Proximal femoral epiphysiolysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73501,7 +73494,7 @@ SubClassOf( ) "A limitation of the range of movement of the shoulder joint.") AnnotationAssertion( "UMLS:C1851313") -AnnotationAssertion(Annotation( ) "Limited shoulder movement") +AnnotationAssertion(Annotation( ) "Limited shoulder movement") AnnotationAssertion( "HP:0006467") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Limited shoulder movement") @@ -73513,7 +73506,7 @@ SubClassOf( ) "Decreased width of the diaphysis of long bones.") AnnotationAssertion( "UMLS:C1859449") AnnotationAssertion( "Thin diaphyses of long bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin shaft of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin shaft of long bone") AnnotationAssertion( "HP:0006470") AnnotationAssertion(rdfs:label "Thin long bone diaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -73556,7 +73549,7 @@ AnnotationAssertion( "UMLS:C4280445") AnnotationAssertion(Annotation( ) "Abnormality of alveolar margin") AnnotationAssertion(Annotation( ) "Abnormality of dentoalveolar ridges") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of gum ridge") AnnotationAssertion( "Defect in alveolar ridge") AnnotationAssertion(Annotation( ) "Abnormality of alveolar processes of jaw") AnnotationAssertion( "HP:0006477") @@ -73590,10 +73583,10 @@ AnnotationAssertion( "SNOMEDCT_US:42756003") AnnotationAssertion( "UMLS:C0232513") AnnotationAssertion( "UMLS:C0399385") -AnnotationAssertion(Annotation( ) "Early tooth loss") -AnnotationAssertion(Annotation( ) "Loss of teeth") -AnnotationAssertion(Annotation( ) "Premature teeth loss") -AnnotationAssertion(Annotation( ) "Premature tooth loss") +AnnotationAssertion(Annotation( ) "Early tooth loss") +AnnotationAssertion(Annotation( ) "Loss of teeth") +AnnotationAssertion(Annotation( ) "Premature teeth loss") +AnnotationAssertion(Annotation( ) "Premature tooth loss") AnnotationAssertion(Annotation( ) "Premature exfoliation of teeth") AnnotationAssertion( "HP:0006480") AnnotationAssertion( ) @@ -73606,9 +73599,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T05:40:00Z") AnnotationAssertion( "UMLS:C4021596") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of baby teeth") AnnotationAssertion( "Abnormality of deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of milk teeth") AnnotationAssertion( "HP:0006481") AnnotationAssertion(rdfs:comment "Primary teeth are also called temporary teeth or deciduous teeth.") AnnotationAssertion(rdfs:label "Abnormality of primary teeth") @@ -73625,16 +73618,16 @@ AnnotationAssertion( "SNOMEDCT_US:422775003") AnnotationAssertion( "UMLS:C0040427") AnnotationAssertion( "UMLS:C0262444") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of dental shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of dental shape") AnnotationAssertion(Annotation( ) "Abnormality of shape of tooth") -AnnotationAssertion(Annotation( ) "Abnormally shaped teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Dental deformity") -AnnotationAssertion(Annotation( ) Annotation( ) "Dental malformations") +AnnotationAssertion(Annotation( ) "Abnormally shaped teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Dental deformity") +AnnotationAssertion(Annotation( ) Annotation( ) "Dental malformations") AnnotationAssertion(Annotation( ) "Malformation of teeth") -AnnotationAssertion(Annotation( ) "Malformed teeth") -AnnotationAssertion(Annotation( ) "Misshapen teeth") -AnnotationAssertion(Annotation( ) "Misshapened teeth") +AnnotationAssertion(Annotation( ) "Malformed teeth") +AnnotationAssertion(Annotation( ) "Misshapen teeth") +AnnotationAssertion(Annotation( ) "Misshapened teeth") AnnotationAssertion( "HP:0006482") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of dental morphology") @@ -73649,8 +73642,8 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:335443002") AnnotationAssertion( "UMLS:C1290508") AnnotationAssertion(Annotation( ) "Abnormal complement of teeth") -AnnotationAssertion(Annotation( ) "Abnormal number of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal tooth count") +AnnotationAssertion(Annotation( ) "Abnormal number of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal tooth count") AnnotationAssertion( "HP:0006483") AnnotationAssertion(rdfs:comment "Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth.") AnnotationAssertion(rdfs:label "Abnormal number of teeth") @@ -73666,10 +73659,10 @@ AnnotationAssertion( "UMLS:C4020816") AnnotationAssertion( "UMLS:C4083290") AnnotationAssertion(Annotation( ) "Failure of development of incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of front tooth") -AnnotationAssertion(Annotation( ) "Absence of incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing front tooth") -AnnotationAssertion(Annotation( ) "Missing incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of front tooth") +AnnotationAssertion(Annotation( ) "Absence of incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing front tooth") +AnnotationAssertion(Annotation( ) "Missing incisors") AnnotationAssertion( "HP:0006485") AnnotationAssertion(rdfs:comment "Failure of one or more incisors to develop.") AnnotationAssertion(rdfs:label "Agenesis of incisor") @@ -73683,8 +73676,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T05:52:00Z") AnnotationAssertion( "UMLS:C4025041") -AnnotationAssertion(Annotation( ) "Abnormality of the dental root") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth root") +AnnotationAssertion(Annotation( ) "Abnormality of the dental root") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth root") AnnotationAssertion( "Dental root anomaly") AnnotationAssertion( "HP:0006486") AnnotationAssertion(rdfs:label "Abnormal dental root morphology") @@ -73703,9 +73696,9 @@ AnnotationAssertion( "HP:0006451") AnnotationAssertion( "HP:0006452") AnnotationAssertion( "UMLS:C1855340") -AnnotationAssertion(Annotation( ) "Bowed long bones") -AnnotationAssertion(Annotation( ) "Bowing of long bones") -AnnotationAssertion(Annotation( ) "Bowing of the long bones") +AnnotationAssertion(Annotation( ) "Bowed long bones") +AnnotationAssertion(Annotation( ) "Bowing of long bones") +AnnotationAssertion(Annotation( ) "Bowing of the long bones") AnnotationAssertion( "Camptomelia") AnnotationAssertion( "Diaphyseal bowing") AnnotationAssertion( "Diaphyseal bowing of long bones") @@ -73721,8 +73714,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T05:57:00Z") AnnotationAssertion( "UMLS:C0426863") -AnnotationAssertion(Annotation( ) Annotation( ) "Bending of the arm") -AnnotationAssertion(Annotation( ) "Bowing of the arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Bending of the arm") +AnnotationAssertion(Annotation( ) "Bowing of the arm") AnnotationAssertion( "HP:0006488") AnnotationAssertion(rdfs:label "Bowing of the arm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73734,7 +73727,7 @@ SubClassOf( ) "An anomaly of the femoral metaphysis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-28T06:02:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the femoral bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the femoral bone") AnnotationAssertion( "UMLS:C4025040") AnnotationAssertion( "UMLS:C4280444") AnnotationAssertion( "Abnormality of the femoral metaphysis") @@ -73750,7 +73743,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-28T06:02:00Z") AnnotationAssertion( "UMLS:C4025039") AnnotationAssertion( "Abnormality of lower-limb metaphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the lower-limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of the lower-limb bone") AnnotationAssertion( "HP:0006490") AnnotationAssertion(rdfs:label "Abnormal lower-limb metaphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -73761,8 +73754,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-28T06:03:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of shinbone") AnnotationAssertion( "UMLS:C4025038") AnnotationAssertion( "Abnormality of the tibial metaphysis") AnnotationAssertion( "HP:0006491") @@ -73779,8 +73772,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0005672") AnnotationAssertion( "HP:0006421") AnnotationAssertion( "UMLS:C1856732") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small calf bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped calf bone") AnnotationAssertion( "Fibular aplasia/hypoplasia") AnnotationAssertion( "Hypoplastic/aplastic fibulae") AnnotationAssertion( "HP:0006492") @@ -73795,8 +73788,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T06:04:00Z") AnnotationAssertion( "UMLS:C4025037") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small lower limb bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped lower limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small lower limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped lower limb bones") AnnotationAssertion( "HP:0006493") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia involving bones of the lower limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73808,8 +73801,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-28T06:08:00Z") AnnotationAssertion( "UMLS:C4025036") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small foot bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped foot bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small foot bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped foot bones") AnnotationAssertion( "HP:0006494") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving bones of the feet") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73825,7 +73818,7 @@ AnnotationAssertion( "HP:0006372") AnnotationAssertion( "HP:0006410") AnnotationAssertion( "UMLS:C1865571") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence/underdevelopment of inner forearm bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence/underdevelopment of inner forearm bone") AnnotationAssertion( "Absent-hypoplastic ulnae") AnnotationAssertion(Annotation( ) "Absent/small ulna") AnnotationAssertion( "Hypoplasia or unilateral/bilateral absence of ulna") @@ -73842,8 +73835,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T06:16:00Z") AnnotationAssertion( "UMLS:C4025035") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of the upper limbs") AnnotationAssertion( "HP:0006496") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia involving bones of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73864,8 +73857,8 @@ AnnotationAssertion( "UMLS:C1868577") AnnotationAssertion( "Absent or hypoplastic patellae") AnnotationAssertion( "Absent/hypoplastic patella") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small kneecap") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small kneecap") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped kneecap") AnnotationAssertion( "Aplastic or hypoplastic patellae") AnnotationAssertion( "Hypoplastic or absent patella") AnnotationAssertion( "Patellar aplasia/hypoplasia") @@ -73885,7 +73878,7 @@ AnnotationAssertion( "HP:0008811") AnnotationAssertion( "UMLS:C4025034") AnnotationAssertion( "Abnormality of femoral epiphysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of thighbone end part") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of thighbone end part") AnnotationAssertion( "HP:0006499") AnnotationAssertion(rdfs:label "Abnormal femoral epiphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73898,7 +73891,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2008-03-28T06:31:00Z") AnnotationAssertion( "UMLS:C4021595") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of lower limb end bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of lower limb end bone") AnnotationAssertion( "Abnormality involving the epiphyses of the lower limbs") AnnotationAssertion( "HP:0006500") AnnotationAssertion(rdfs:label "Abnormality of lower limb epiphysis morphology") @@ -73929,8 +73922,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T06:35:00Z") AnnotationAssertion( "UMLS:C4025033") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small wrist bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped wrist bones") AnnotationAssertion( "HP:0006502") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the carpal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73943,8 +73936,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T06:45:00Z") AnnotationAssertion( "UMLS:C4025032") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small forearm bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped forearm bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small forearm bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped forearm bones") AnnotationAssertion( "HP:0006503") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia involving forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73956,7 +73949,7 @@ SubClassOf( "HP:0000940") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-28T06:47:00Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone of the limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone of the limbs") AnnotationAssertion( "HP:0006504") AnnotationAssertion(rdfs:label "obsolete Anomaly of the limb diaphyses morphology") AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) @@ -73967,7 +73960,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2008-03-28T06:48:00Z") AnnotationAssertion( "UMLS:C4021593") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of limb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of end part of limb bones") AnnotationAssertion( "Abnormality involving the epiphyses of the limbs") AnnotationAssertion( "Abnormality of limb epiphysis morphology") AnnotationAssertion( "HP:0006505") @@ -73983,8 +73976,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-29T09:15:00Z") AnnotationAssertion( "UMLS:C4025031") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small long bone in upper arm") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped long bone in upper arm") AnnotationAssertion( "HP:0006507") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the humerus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -73996,7 +73989,7 @@ SubClassOf( ) AnnotationAssertion( "2008-03-29T09:19:00Z") AnnotationAssertion( "UMLS:C4025030") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of shinbone") AnnotationAssertion( "HP:0006508") AnnotationAssertion(rdfs:label "Abnormality of tibial epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74178,7 +74171,7 @@ SubClassOf( "HPO_CONTRIBUTOR:IMM_tkuijpers") "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.") AnnotationAssertion( "SNOMEDCT_US:413839001") AnnotationAssertion( "UMLS:C0746102") -AnnotationAssertion(Annotation( ) "Chronic lung disease") +AnnotationAssertion(Annotation( ) "Chronic lung disease") AnnotationAssertion( "HP:0006528") AnnotationAssertion(rdfs:label "Chronic lung disease") SubClassOf( ) @@ -74202,7 +74195,7 @@ AnnotationAssertion( "SNOMEDCT_US:233703007") AnnotationAssertion( "UMLS:C0206062") AnnotationAssertion( "Abnormal lung parenchyma morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality in area between air sacs in lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality in area between air sacs in lung") AnnotationAssertion( "Interstitial lung disease") AnnotationAssertion( "Interstitial pulmonary disease") AnnotationAssertion( "HP:0006530") @@ -74233,7 +74226,7 @@ AnnotationAssertion(Annotation( "Pneumonia, recurrent episodes") AnnotationAssertion( "Pulmonary infection") AnnotationAssertion( "Pulmonary infections") -AnnotationAssertion(Annotation( ) "Recurrent pneumonia") +AnnotationAssertion(Annotation( ) "Recurrent pneumonia") AnnotationAssertion( "Recurrent pulmonary infections") AnnotationAssertion(Annotation( ) "pulmonary infections, recurrent") AnnotationAssertion( "HP:0006532") @@ -74254,7 +74247,7 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "A recurrent hemorrhage occurring within the lung.") AnnotationAssertion( "UMLS:C3805919") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent bleeding into lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent bleeding into lungs") AnnotationAssertion(Annotation( ) "Recurrent intrapulmonary haemorrhage") AnnotationAssertion(Annotation( ) "Recurrent pulmonary haemorrhage") AnnotationAssertion(Annotation( ) "Recurrent pulmonary hemorrhage") @@ -74269,7 +74262,7 @@ AnnotationAssertion(Annotation( "HP:0006512") AnnotationAssertion( "MSH:D008173") AnnotationAssertion( "UMLS:C0600260") -AnnotationAssertion(Annotation( ) "Obstructive lung disease") +AnnotationAssertion(Annotation( ) "Obstructive lung disease") AnnotationAssertion( "Pulmonary obstruction") AnnotationAssertion( "HP:0006536") AnnotationAssertion(rdfs:label "Airway obstruction") @@ -74278,7 +74271,7 @@ SubClassOf( (Recurrent bronchopulmonary infections) AnnotationAssertion(Annotation( ) "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent infections in bronchi and lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent infections in bronchi and lungs") AnnotationAssertion( "UMLS:C2169795") AnnotationAssertion( "HP:0006538") AnnotationAssertion(rdfs:label "Recurrent bronchopulmonary infections") @@ -74287,7 +74280,7 @@ SubClassOf( (Bronchial cartilage hypoplasia) AnnotationAssertion( "UMLS:C4025024") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the bronical cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the bronical cartilage") AnnotationAssertion( "HP:0006539") AnnotationAssertion(rdfs:label "Bronchial cartilage hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74356,7 +74349,7 @@ AnnotationAssertion( "SNOMEDCT_US:197270009") AnnotationAssertion( "SNOMEDCT_US:235884008") AnnotationAssertion( "UMLS:C0162557") -AnnotationAssertion(Annotation( ) "Acute liver failure") +AnnotationAssertion(Annotation( ) "Acute liver failure") AnnotationAssertion( "HP:0006554") AnnotationAssertion(rdfs:label "Acute hepatic failure") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74493,7 +74486,7 @@ SubClassOf( ) "An acute form of hepatic steatosis.") AnnotationAssertion( "UMLS:C4025020") -AnnotationAssertion(Annotation( ) Annotation( ) "Acute fatty liver") +AnnotationAssertion(Annotation( ) Annotation( ) "Acute fatty liver") AnnotationAssertion( "HP:0006573") AnnotationAssertion(rdfs:label "Acute hepatic steatosis") SubClassOf( ) @@ -74544,7 +74537,7 @@ AnnotationAssertion( "UMLS:C0022353") AnnotationAssertion( "UMLS:C1859236") AnnotationAssertion( "Neonatal jaundice") -AnnotationAssertion(Annotation( ) Annotation( ) "Prolonged yellowing of skin in newborn") +AnnotationAssertion(Annotation( ) Annotation( ) "Prolonged yellowing of skin in newborn") AnnotationAssertion(Annotation( ) "Jaundice, neonatal") AnnotationAssertion( "HP:0006579") AnnotationAssertion(rdfs:label "Prolonged neonatal jaundice") @@ -74582,7 +74575,7 @@ SubClassOf( (Fatal liver failure in infancy) AnnotationAssertion( "UMLS:C4025017") -AnnotationAssertion(Annotation( ) "Fatal liver failure in infancy") +AnnotationAssertion(Annotation( ) "Fatal liver failure in infancy") AnnotationAssertion( "HP:0006583") AnnotationAssertion(rdfs:label "Fatal liver failure in infancy") SubClassOf( ) @@ -74592,7 +74585,7 @@ SubClassOf( "HP:0006629") AnnotationAssertion( "UMLS:C1861226") AnnotationAssertion( "Small abnormally formed scapula") -AnnotationAssertion(Annotation( ) Annotation( ) "Small abnormally formed shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Small abnormally formed shoulder blade") AnnotationAssertion( "HP:0006584") AnnotationAssertion(rdfs:label "Small abnormally formed scapulae") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74621,7 +74614,7 @@ SubClassOf( ) "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .") AnnotationAssertion( "UMLS:C4025016") -AnnotationAssertion(Annotation( ) Annotation( ) "Straight collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Straight collarbone") AnnotationAssertion( "HP:0006587") AnnotationAssertion(rdfs:label "Straight clavicles") SubClassOf( ) @@ -74629,7 +74622,7 @@ SubClassOf( (Flaring of lower rib cage) AnnotationAssertion( "UMLS:C1855196") -AnnotationAssertion(Annotation( ) "Flaring of lower rib cage") +AnnotationAssertion(Annotation( ) "Flaring of lower rib cage") AnnotationAssertion( "HP:0006589") AnnotationAssertion(rdfs:label "Flaring of lower rib cage") SubClassOf( ) @@ -74665,7 +74658,7 @@ SubClassOf( ) "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.") AnnotationAssertion( "HP:0010792") AnnotationAssertion( "UMLS:C1865362") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of shoulder blade to long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of shoulder blade to long bone in upper arm") AnnotationAssertion( "Humero-scapulo synostosis") AnnotationAssertion( "Humeroscapular synostosis") AnnotationAssertion( "Synostosis of shoulder joint") @@ -74680,7 +74673,7 @@ SubClassOf( (Restricted chest movement) AnnotationAssertion( "UMLS:C4025015") -AnnotationAssertion(Annotation( ) "Restricted chest movement") +AnnotationAssertion(Annotation( ) "Restricted chest movement") AnnotationAssertion( "HP:0006596") AnnotationAssertion(rdfs:label "Restricted chest movement") SubClassOf( ) @@ -74692,9 +74685,9 @@ AnnotationAssertion(Annotation( "MSH:D012133") AnnotationAssertion( "SNOMEDCT_US:64228003") AnnotationAssertion( "UMLS:C0035232") -AnnotationAssertion(Annotation( ) "Diaphragmatic paralysis") +AnnotationAssertion(Annotation( ) "Diaphragmatic paralysis") AnnotationAssertion(Annotation( ) "Paralysed diaphragm") -AnnotationAssertion(Annotation( ) Annotation( ) "Paralyzed diaphragm") +AnnotationAssertion(Annotation( ) Annotation( ) "Paralyzed diaphragm") AnnotationAssertion( "HP:0006597") AnnotationAssertion(rdfs:comment "Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue.") AnnotationAssertion(rdfs:label "Diaphragmatic paralysis") @@ -74729,7 +74722,7 @@ SubClassOf( (Flared, irregular rib ends) AnnotationAssertion( "UMLS:C1865833") -AnnotationAssertion(Annotation( ) "Flared, irregular rib ends") +AnnotationAssertion(Annotation( ) "Flared, irregular rib ends") AnnotationAssertion( "HP:0006603") AnnotationAssertion(rdfs:label "Flared, irregular rib ends") SubClassOf( ) @@ -74762,7 +74755,7 @@ SubClassOf( ) "Underdevelopment of the middle portion of the clavicle.") AnnotationAssertion( "UMLS:C1844530") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped middle portion of the collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped middle portion of the collarbone") AnnotationAssertion( "HP:0006608") AnnotationAssertion(rdfs:label "Midclavicular hypoplasia") SubClassOf( ) @@ -74774,9 +74767,9 @@ AnnotationAssertion( "HP:0001554") AnnotationAssertion( "SNOMEDCT_US:423230008") AnnotationAssertion( "UMLS:C1827524") -AnnotationAssertion(Annotation( ) "Wide-spaced nipples") -AnnotationAssertion(Annotation( ) "Widely spaced nipples") -AnnotationAssertion(Annotation( ) "Widely-spaced nipples") +AnnotationAssertion(Annotation( ) "Wide-spaced nipples") +AnnotationAssertion(Annotation( ) "Widely spaced nipples") +AnnotationAssertion(Annotation( ) "Widely-spaced nipples") AnnotationAssertion( "HP:0006610") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Wide intermamillary distance") @@ -74797,7 +74790,7 @@ SubClassOf( ) "Lack of formation and mineralization of the ribs in utero.") AnnotationAssertion( "UMLS:C1842695") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent rib calcification in utero") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent rib calcification in utero") AnnotationAssertion( "HP:0006615") AnnotationAssertion(rdfs:label "Absent in utero rib ossification") SubClassOf( ) @@ -74839,7 +74832,7 @@ AnnotationAssertion( "UMLS:C4280443") AnnotationAssertion( "Absent sternal mineralization") AnnotationAssertion( "Lack of sternal ossification") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bone maturation in sternum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bone maturation in sternum") AnnotationAssertion( "HP:0006628") AnnotationAssertion(rdfs:label "Absent sternal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -74850,8 +74843,8 @@ SubClassOf( "Small outermost segments of shoulder blade") AnnotationAssertion( "UMLS:C4025014") -AnnotationAssertion(Annotation( ) Annotation( ) "Small distal segments of the shoulder blade") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped outermost segments of shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Small distal segments of the shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped outermost segments of shoulder blade") AnnotationAssertion( "HP:0006631") AnnotationAssertion(rdfs:label "Hypoplastic distal segments of scapulae") SubClassOf( ) @@ -74873,7 +74866,7 @@ SubClassOf( ) "Osteosclerosis of ribs (increased density related to increased bone mass).") AnnotationAssertion( "UMLS:C4025013") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in ribs") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in ribs") AnnotationAssertion( "HP:0006634") AnnotationAssertion(rdfs:label "Osteosclerosis of ribs") SubClassOf( ) @@ -74891,7 +74884,7 @@ SubClassOf( ) "Developmental defect resulting in congenital absence of the middle portion of the clavicle.") AnnotationAssertion( "UMLS:C1844529") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing middle part of collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing middle part of collarbone") AnnotationAssertion( "HP:0006638") AnnotationAssertion(rdfs:label "Midclavicular aplasia") SubClassOf( ) @@ -74901,7 +74894,7 @@ SubClassOf( ) "More than one fracture of the ribs.") AnnotationAssertion( "SNOMEDCT_US:1261007") AnnotationAssertion( "UMLS:C0272567") -AnnotationAssertion(Annotation( ) "Multiple rib fractures") +AnnotationAssertion(Annotation( ) "Multiple rib fractures") AnnotationAssertion( "HP:0006640") AnnotationAssertion(rdfs:label "Multiple rib fractures") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74910,7 +74903,7 @@ SubClassOf( (Prominent floating ribs) AnnotationAssertion( "UMLS:C4025012") -AnnotationAssertion(Annotation( ) "Prominent floating ribs") +AnnotationAssertion(Annotation( ) "Prominent floating ribs") AnnotationAssertion( "HP:0006641") AnnotationAssertion(rdfs:label "Prominent floating ribs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74947,7 +74940,7 @@ SubClassOf( ) "Abnormally reduced diameter (cross section) of the clavicles.") AnnotationAssertion( "SNOMEDCT_US:298764003") AnnotationAssertion( "UMLS:C0575535") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin collarbone") AnnotationAssertion( "HP:0006645") AnnotationAssertion(rdfs:label "Thin clavicles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -74986,7 +74979,7 @@ SubClassOf( (Thickening of the lateral border of the scapula) AnnotationAssertion( "UMLS:C1834383") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of the lateral border of the shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of the lateral border of the shoulder blade") AnnotationAssertion( "HP:0006650") AnnotationAssertion(rdfs:label "Thickening of the lateral border of the scapula") SubClassOf( ) @@ -75005,8 +74998,8 @@ AnnotationAssertion( "UMLS:C1834386") AnnotationAssertion( "Hypoplastic first rib") AnnotationAssertion( "Hypoplastic first ribs") -AnnotationAssertion(Annotation( ) Annotation( ) "Small first rib") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped first rib") +AnnotationAssertion(Annotation( ) Annotation( ) "Small first rib") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped first rib") AnnotationAssertion( "HP:0006657") AnnotationAssertion(rdfs:label "Hypoplasia of first ribs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75015,7 +75008,7 @@ SubClassOf( (Internally rotated shoulders) AnnotationAssertion( "UMLS:C1862491") -AnnotationAssertion(Annotation( ) "Internally rotated shoulders") +AnnotationAssertion(Annotation( ) "Internally rotated shoulders") AnnotationAssertion( "HP:0006659") AnnotationAssertion(rdfs:label "Internally rotated shoulders") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75026,7 +75019,7 @@ SubClassOf( ) "Absence of the clavicles as a developmental defect.") AnnotationAssertion( "UMLS:C1857665") AnnotationAssertion( "Absent clavicles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent collarbone") AnnotationAssertion(Annotation( ) "Aplastic clavicles") AnnotationAssertion( "HP:0006660") AnnotationAssertion( ) @@ -75038,7 +75031,7 @@ SubClassOf( ) Annotation( "PMID:12712270") Annotation( "PMID:21607596") "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).") AnnotationAssertion( "UMLS:C4025010") -AnnotationAssertion(Annotation( ) "Coat hanger sign of ribs") +AnnotationAssertion(Annotation( ) "Coat hanger sign of ribs") AnnotationAssertion( "HP:0006665") AnnotationAssertion(rdfs:comment "The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14.") AnnotationAssertion(rdfs:label "Coat hanger sign of ribs") @@ -75047,8 +75040,8 @@ SubClassOf( (Twelfth rib hypoplasia) AnnotationAssertion( "UMLS:C1859361") -AnnotationAssertion(Annotation( ) Annotation( ) "Small twelfth rib") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped twelfth rib") +AnnotationAssertion(Annotation( ) Annotation( ) "Small twelfth rib") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped twelfth rib") AnnotationAssertion( "HP:0006668") AnnotationAssertion(rdfs:label "Twelfth rib hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75114,14 +75107,14 @@ AnnotationAssertion( "SNOMEDCT_US:17338001") AnnotationAssertion( "SNOMEDCT_US:251175005") AnnotationAssertion( "UMLS:C0151636") -AnnotationAssertion(Annotation( ) "Extra heart beat") +AnnotationAssertion(Annotation( ) "Extra heart beat") AnnotationAssertion( "Premature ventricular beat") AnnotationAssertion(Annotation( ) "Premature ventricular contractions") AnnotationAssertion( "Ventricular ectopics") AnnotationAssertion(Annotation( ) "Ventricular extrasystoles") AnnotationAssertion( "Ventricular premature beat") -AnnotationAssertion(Annotation( ) "Missed heartbeat") -AnnotationAssertion(Annotation( ) "Skipped heartbeat") +AnnotationAssertion(Annotation( ) "Missed heartbeat") +AnnotationAssertion(Annotation( ) "Skipped heartbeat") AnnotationAssertion( "HP:0006682") AnnotationAssertion(rdfs:comment "A premature ventricular contraction may be perceived as a skipped beat or as palpitations. Although they may cause symptoms such as palpitations or dizziness, incidental PVCs are generally considered benign. Highly frequent PVCs, however, can have detrimental effects on the left ventricular function over time and may cause or worsen heart failure.") AnnotationAssertion(rdfs:label "Premature ventricular contraction") @@ -75240,7 +75233,7 @@ AnnotationAssertion(Annotation( "HP:0005139") AnnotationAssertion( "HP:0005298") AnnotationAssertion( "HP:0010439") -AnnotationAssertion(Annotation( ) Annotation( ) "Hole in center of heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Hole in center of heart") AnnotationAssertion(Annotation( ) "Hole in centre of heart") AnnotationAssertion( "Fyler:0606") AnnotationAssertion( "Fyler:1100") @@ -75309,8 +75302,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-29T03:17:00Z") AnnotationAssertion( "UMLS:C4024996") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small lungs") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped lungs") AnnotationAssertion( "HP:0006703") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the lungs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75359,7 +75352,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-29T03:41:00Z") AnnotationAssertion( "UMLS:C4024994") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of liver blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of liver blood vessels") AnnotationAssertion( "Abnormality of the liver vasculature") AnnotationAssertion( "HP:0006707") AnnotationAssertion(rdfs:label "Abnormality of the hepatic vasculature") @@ -75375,8 +75368,8 @@ AnnotationAssertion( "HP:0006669") AnnotationAssertion( "UMLS:C3150086") AnnotationAssertion( "Absent/rudimentary nipples") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small nipples") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped nipples") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small nipples") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped nipples") AnnotationAssertion( "Nipples absent or rudimentary") AnnotationAssertion( "HP:0006709") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the nipples") @@ -75389,8 +75382,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-29T03:53:00Z") AnnotationAssertion( "UMLS:C4024993") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small collarbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped collarbone") AnnotationAssertion( "HP:0006710") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the clavicles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75402,8 +75395,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-29T03:53:00Z") AnnotationAssertion( "UMLS:C4024992") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost thorax bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thorax bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost thorax bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thorax bone") AnnotationAssertion( "HP:0006711") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving bones of the thorax") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75416,8 +75409,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-29T03:54:00Z") AnnotationAssertion( "HP:0006636") AnnotationAssertion( "UMLS:C1847363") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ribs") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ribs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ribs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ribs") AnnotationAssertion( "Hypoplastic or missing ribs") AnnotationAssertion( "HP:0006712") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the ribs") @@ -75430,8 +75423,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-29T03:58:00Z") AnnotationAssertion( "UMLS:C4024991") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shoulder blade") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped shoulder blade") AnnotationAssertion( "HP:0006713") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the scapulae") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75443,8 +75436,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-29T04:01:00Z") AnnotationAssertion( "UMLS:C4024990") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small sternum") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped sternum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small sternum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped sternum") AnnotationAssertion( "HP:0006714") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the sternum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -75486,7 +75479,7 @@ AnnotationAssertion( ) "Benign GI tract tumors") AnnotationAssertion(Annotation( ) "Benign GI tract tumours") AnnotationAssertion(Annotation( ) "Benign gastrointestinal tract tumours") -AnnotationAssertion(Annotation( ) Annotation( ) "Non-cancerous GI tumors") +AnnotationAssertion(Annotation( ) Annotation( ) "Non-cancerous GI tumors") AnnotationAssertion(Annotation( ) "Non-cancerous GI tumours") AnnotationAssertion( "HP:0006719") AnnotationAssertion(rdfs:label "Benign gastrointestinal tract tumors") @@ -75728,7 +75721,7 @@ AnnotationAssertion( "SNOMEDCT_US:126824007") AnnotationAssertion( "UMLS:C0038356") AnnotationAssertion( "UMLS:C4020813") -AnnotationAssertion(Annotation( ) Annotation( ) "Stomach tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Stomach tumor") AnnotationAssertion(Annotation( ) "Stomach tumour") AnnotationAssertion( "Neoplasia of the stomach") AnnotationAssertion( "HP:0006753") @@ -76023,7 +76016,7 @@ SubClassOf( (Loss of ability to walk in first decade) AnnotationAssertion( "UMLS:C1846133") -AnnotationAssertion(Annotation( ) "Loss of ability to walk in first decade") +AnnotationAssertion(Annotation( ) "Loss of ability to walk in first decade") AnnotationAssertion( "HP:0006794") AnnotationAssertion(rdfs:label "Loss of ability to walk in first decade") SubClassOf( ) @@ -76170,7 +76163,7 @@ SubClassOf( (Atrophy of the spinal cord) AnnotationAssertion( "UMLS:C1389102") -AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of the spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Degeneration of the spinal cord") AnnotationAssertion( "HP:0006827") AnnotationAssertion(rdfs:label "Atrophy of the spinal cord") SubClassOf( ) @@ -76181,7 +76174,7 @@ AnnotationAssertion(Annotation( "HP:0002347") AnnotationAssertion( "UMLS:C1839630") AnnotationAssertion( "Hypotonia, severe") -AnnotationAssertion(Annotation( ) Annotation( ) "Severely decreased muscle tone") +AnnotationAssertion(Annotation( ) Annotation( ) "Severely decreased muscle tone") AnnotationAssertion( "HP:0006829") AnnotationAssertion(rdfs:label "Severe muscular hypotonia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -76216,7 +76209,7 @@ SubClassOf( ) "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.") AnnotationAssertion( "SNOMEDCT_US:274817009") AnnotationAssertion( "UMLS:C0558844") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent knee jerk reflex") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent knee jerk reflex") AnnotationAssertion( "HP:0006844") AnnotationAssertion(rdfs:label "Absent patellar reflexes") SubClassOf( ) @@ -76341,8 +76334,8 @@ SubClassOf( ) "Underdevelopment of the cerebrum.") AnnotationAssertion( "HP:0001322") AnnotationAssertion( "UMLS:C1855330") -AnnotationAssertion(Annotation( ) Annotation( ) "Small cerebrum") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped cerebrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Small cerebrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped cerebrum") AnnotationAssertion( "HP:0006872") AnnotationAssertion(rdfs:label "Cerebral hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -76418,9 +76411,9 @@ AnnotationAssertion( "HP:0007044") AnnotationAssertion( "HP:0007243") AnnotationAssertion( "UMLS:C1846149") -AnnotationAssertion(Annotation( ) "Intellectual disability, progressive") -AnnotationAssertion(Annotation( ) "Mental retardation, progressive") -AnnotationAssertion(Annotation( ) "Progressive mental retardation") +AnnotationAssertion(Annotation( ) "Intellectual disability, progressive") +AnnotationAssertion(Annotation( ) "Mental retardation, progressive") +AnnotationAssertion(Annotation( ) "Progressive mental retardation") AnnotationAssertion( "HP:0006887") AnnotationAssertion(rdfs:label "Intellectual disability, progressive") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -76440,8 +76433,8 @@ SubClassOf( ) Annotation( "PMID:20537050") "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.") AnnotationAssertion( "SNOMEDCT_US:77287004") AnnotationAssertion( "UMLS:C0006009") -AnnotationAssertion(Annotation( ) "Intellectual disability, borderline") -AnnotationAssertion(Annotation( ) "Mental retardation, borderline") +AnnotationAssertion(Annotation( ) "Intellectual disability, borderline") +AnnotationAssertion(Annotation( ) "Mental retardation, borderline") AnnotationAssertion( "HP:0006889") AnnotationAssertion(rdfs:comment "We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification.") AnnotationAssertion(rdfs:label "Intellectual disability, borderline") @@ -76570,7 +76563,7 @@ SubClassOf( (Inability to walk by childhood/adolescence) AnnotationAssertion( "UMLS:C1859200") -AnnotationAssertion(Annotation( ) "Inability to walk by childhood/adolescence") +AnnotationAssertion(Annotation( ) "Inability to walk by childhood/adolescence") AnnotationAssertion( "HP:0006915") AnnotationAssertion(rdfs:label "Inability to walk by childhood/adolescence") SubClassOf( ) @@ -76596,7 +76589,7 @@ SubClassOf( (Abnormal aggressive, impulsive or violent behavior) -AnnotationAssertion(Annotation( ) "Aggressive/violent behavior") +AnnotationAssertion(Annotation( ) "Aggressive/violent behavior") AnnotationAssertion(Annotation( ) "Aggressive/violent behaviour") AnnotationAssertion( "UMLS:C4024963") AnnotationAssertion(Annotation( ) "Abnormal aggressive, impulsive or violent behaviour") @@ -76684,7 +76677,7 @@ AnnotationAssertion(Annotation( "HP:0006981") AnnotationAssertion( "UMLS:C4021583") AnnotationAssertion( "Decreased distal touch sense") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased touch sensation in extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased touch sensation in extremities") AnnotationAssertion( "HP:0006937") AnnotationAssertion(rdfs:label "Impaired distal tactile sensation") SubClassOf( ) @@ -76695,9 +76688,9 @@ SubClassOf( ) "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.") AnnotationAssertion( "HP:0007144") AnnotationAssertion( "UMLS:C1854372") -AnnotationAssertion(Annotation( ) "Decreased vibration sense at ankles") -AnnotationAssertion(Annotation( ) "Decreased vibration sense in feet") -AnnotationAssertion(Annotation( ) "Impaired vibration sensation at ankles") +AnnotationAssertion(Annotation( ) "Decreased vibration sense at ankles") +AnnotationAssertion(Annotation( ) "Decreased vibration sense in feet") +AnnotationAssertion(Annotation( ) "Impaired vibration sensation at ankles") AnnotationAssertion( "HP:0006938") AnnotationAssertion(rdfs:label "Impaired vibration sensation at ankles") SubClassOf( ) @@ -76812,8 +76805,8 @@ SubClassOf( (Jerky head movements) AnnotationAssertion( "UMLS:C1855568") -AnnotationAssertion(Annotation( ) "Head jerking") -AnnotationAssertion(Annotation( ) "Jerking head movements") +AnnotationAssertion(Annotation( ) "Head jerking") +AnnotationAssertion(Annotation( ) "Jerking head movements") AnnotationAssertion( "HP:0006961") AnnotationAssertion(rdfs:label "Jerky head movements") SubClassOf( ) @@ -76821,7 +76814,7 @@ SubClassOf( (Gait instability, worse in the dark) AnnotationAssertion( "UMLS:C1837016") -AnnotationAssertion(Annotation( ) Annotation( ) "Unstable walking, worse in the dark") +AnnotationAssertion(Annotation( ) Annotation( ) "Unstable walking, worse in the dark") AnnotationAssertion( "HP:0006962") AnnotationAssertion(rdfs:label "Gait instability, worse in the dark") SubClassOf( ) @@ -76869,7 +76862,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "UMLS:C4024956") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Grammar-specific speech disorder") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Grammar-specific speech disorder") AnnotationAssertion( "HP:0006977") AnnotationAssertion(rdfs:label "Deficit in grammar") SubClassOf( ) @@ -76885,7 +76878,7 @@ SubClassOf( "Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake.") AnnotationAssertion( "UMLS:C1833362") -AnnotationAssertion(Annotation( ) "Sleep-wake cycle disturbance") +AnnotationAssertion(Annotation( ) "Sleep-wake cycle disturbance") AnnotationAssertion( "HP:0006979") AnnotationAssertion(rdfs:label "Sleep-wake cycle disturbance") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -76918,7 +76911,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "SNOMEDCT_US:394680009") AnnotationAssertion( "UMLS:C1273957") -AnnotationAssertion(Annotation( ) Annotation( ) "Uncontrollable movement in upper arms") +AnnotationAssertion(Annotation( ) Annotation( ) "Uncontrollable movement in upper arms") AnnotationAssertion( "HP:0006986") AnnotationAssertion(rdfs:label "Upper limb spasticity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -77081,7 +77074,7 @@ SubClassOf( (Progressive forgetfulness) -AnnotationAssertion(Annotation( ) "Forgetfullness") +AnnotationAssertion(Annotation( ) "Forgetfullness") AnnotationAssertion( "UMLS:C3277688") AnnotationAssertion( "HP:0007017") AnnotationAssertion(rdfs:label "Progressive forgetfulness") @@ -77099,11 +77092,11 @@ AnnotationAssertion( "SNOMEDCT_US:7461003") AnnotationAssertion( "UMLS:C1263846") AnnotationAssertion(Annotation( ) "ADHD") -AnnotationAssertion(Annotation( ) "Attention deficit") -AnnotationAssertion(Annotation( ) "Attention deficit disorder") -AnnotationAssertion(Annotation( ) "Attention deficit-hyperactivity disorder") -AnnotationAssertion(Annotation( ) "Attention deficits") -AnnotationAssertion(Annotation( ) "Childhood attention deficit/hyperactivity disorder") +AnnotationAssertion(Annotation( ) "Attention deficit") +AnnotationAssertion(Annotation( ) "Attention deficit disorder") +AnnotationAssertion(Annotation( ) "Attention deficit-hyperactivity disorder") +AnnotationAssertion(Annotation( ) "Attention deficits") +AnnotationAssertion(Annotation( ) "Childhood attention deficit/hyperactivity disorder") AnnotationAssertion( "HP:0007018") AnnotationAssertion(rdfs:label "Attention deficit hyperactivity disorder") SubClassOf( ) @@ -77300,7 +77293,7 @@ AnnotationAssertion(Annotation( "UMLS:C4024945") AnnotationAssertion(Annotation( ) "Generalised cerebral atrophy/hypoplasia") AnnotationAssertion(Annotation( ) "Generalised cerebral degeneration/underdevelopment") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized cerebral degeneration/underdevelopment") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized cerebral degeneration/underdevelopment") AnnotationAssertion( "HP:0007058") AnnotationAssertion(rdfs:label "Generalized cerebral atrophy/hypoplasia") SubClassOf( ) @@ -77421,8 +77414,8 @@ SubClassOf( "UMLS:C0240116") AnnotationAssertion( "Hyperreflexia in knees") -AnnotationAssertion(Annotation( ) Annotation( ) "Overactive knee reflex") -AnnotationAssertion(Annotation( ) "Brisk knee jerk") +AnnotationAssertion(Annotation( ) Annotation( ) "Overactive knee reflex") +AnnotationAssertion(Annotation( ) "Brisk knee jerk") AnnotationAssertion( "HP:0007083") AnnotationAssertion(rdfs:label "Hyperactive patellar reflex") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -77462,7 +77455,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Hypoplasia of the optic tract) AnnotationAssertion( "UMLS:C1856654") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped optic tract") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped optic tract") AnnotationAssertion( "HP:0007096") AnnotationAssertion(rdfs:label "Hypoplasia of the optic tract") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -77625,7 +77618,7 @@ AnnotationAssertion( "Proximal muscle wasting") AnnotationAssertion( "Symmetric proximal muscular atrophy") AnnotationAssertion( "Symmetrical, proximal limb muscle atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of muscles near the body") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of muscles near the body") AnnotationAssertion( "HP:0007126") AnnotationAssertion(rdfs:comment "Proximal amyotrophy usually has a roughly symmetric distribution.") AnnotationAssertion(rdfs:label "Proximal amyotrophy") @@ -77674,7 +77667,7 @@ AnnotationAssertion( "HP:0007237") AnnotationAssertion( "UMLS:C1112256") AnnotationAssertion( "Mixed polyneuropathy") -AnnotationAssertion(Annotation( ) Annotation( ) "Nerve damage causing decreased feeling and movement") +AnnotationAssertion(Annotation( ) Annotation( ) "Nerve damage causing decreased feeling and movement") AnnotationAssertion( "Sensorimotor peripheral neuropathy") AnnotationAssertion( "HP:0007141") AnnotationAssertion(rdfs:label "Sensorimotor neuropathy") @@ -77748,7 +77741,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Slowed slurred speech) AnnotationAssertion( "UMLS:C4024929") -AnnotationAssertion(Annotation( ) "Slowed slurred speech") +AnnotationAssertion(Annotation( ) "Slowed slurred speech") AnnotationAssertion( "HP:0007164") AnnotationAssertion(rdfs:label "Slowed slurred speech") SubClassOf( ) @@ -77843,8 +77836,8 @@ AnnotationAssertion( "SNOMEDCT_US:418107008") AnnotationAssertion( "SNOMEDCT_US:419045004") AnnotationAssertion( "UMLS:C0041657") -AnnotationAssertion(Annotation( ) "Loss of consciousness") -AnnotationAssertion(Annotation( ) "Passing out") +AnnotationAssertion(Annotation( ) "Loss of consciousness") +AnnotationAssertion(Annotation( ) "Passing out") AnnotationAssertion( "HP:0007185") AnnotationAssertion(rdfs:label "Loss of consciousness") SubClassOf( ) @@ -77884,7 +77877,7 @@ AnnotationAssertion( ) "Generalised tonic-clonic seizures on awakening") AnnotationAssertion( "Generalized tonic-clonic seizures on awakening") AnnotationAssertion(Annotation( ) "Morning generalised tonic-clonic seizures") -AnnotationAssertion(Annotation( ) "Morning generalized tonic-clonic seizures") +AnnotationAssertion(Annotation( ) "Morning generalized tonic-clonic seizures") AnnotationAssertion( "HP:0007193") AnnotationAssertion(rdfs:label "Bilateral tonic-clonic seizure on awakening") SubClassOf( ) @@ -77907,7 +77900,7 @@ SubClassOf( (Cerebral artery atherosclerosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:31420554") "The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.") -AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in cerebral artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in cerebral artery") AnnotationAssertion( "UMLS:C4024924") AnnotationAssertion( "HP:0007201") AnnotationAssertion(rdfs:label "Cerebral artery atherosclerosis") @@ -77964,7 +77957,7 @@ AnnotationAssertion( "SNOMEDCT_US:95666008") AnnotationAssertion( "UMLS:C0015469") AnnotationAssertion( "UMLS:C0427055") -AnnotationAssertion(Annotation( ) "Facial paralysis") +AnnotationAssertion(Annotation( ) "Facial paralysis") AnnotationAssertion(Annotation( ) "Facial paresis") AnnotationAssertion( "HP:0007209") AnnotationAssertion( ) @@ -78214,8 +78207,8 @@ AnnotationAssertion(Annotation( "MSH:D009134") AnnotationAssertion( "SNOMEDCT_US:5262007") AnnotationAssertion( "UMLS:C0026847") -AnnotationAssertion(Annotation( ) Annotation( ) "Spinal muscle degeneration") -AnnotationAssertion(Annotation( ) Annotation( ) "Spinal muscle wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Spinal muscle degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Spinal muscle wasting") AnnotationAssertion( "HP:0007269") AnnotationAssertion(rdfs:label "Spinal muscular atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -78365,7 +78358,7 @@ AnnotationAssertion( "MSH:D001714") AnnotationAssertion( "SNOMEDCT_US:13746004") AnnotationAssertion( "UMLS:C0005586") -AnnotationAssertion(Annotation( ) "Bipolar disorder") +AnnotationAssertion(Annotation( ) "Bipolar disorder") AnnotationAssertion( "HP:0007302") AnnotationAssertion(rdfs:label "Bipolar affective disorder") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -78402,7 +78395,7 @@ SubClassOf( (Short stepped shuffling gait) AnnotationAssertion( "UMLS:C3805715") -AnnotationAssertion(Annotation( ) Annotation( ) "Short stepped shuffling walk") +AnnotationAssertion(Annotation( ) Annotation( ) "Short stepped shuffling walk") AnnotationAssertion( "HP:0007311") AnnotationAssertion(rdfs:label "Short stepped shuffling gait") SubClassOf( ) @@ -78474,9 +78467,9 @@ SubClassOf( ) "Reduced ability to perceive painful stimuli.") AnnotationAssertion( "HP:0002713") AnnotationAssertion( "UMLS:C1837522") -AnnotationAssertion(Annotation( ) "Decreased pain sensation") +AnnotationAssertion(Annotation( ) "Decreased pain sensation") AnnotationAssertion( "Decreased pinprick sensation") -AnnotationAssertion(Annotation( ) "Impaired pain sensation") +AnnotationAssertion(Annotation( ) "Impaired pain sensation") AnnotationAssertion( "HP:0007328") AnnotationAssertion(rdfs:label "Impaired pain sensation") SubClassOf( ) @@ -78508,7 +78501,7 @@ AnnotationAssertion( "UMLS:C1849172") AnnotationAssertion( "Frontal lobe hypoplasia") AnnotationAssertion( "Hypoplastic frontal lobes") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped frontal lobe") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped frontal lobe") AnnotationAssertion( "HP:0007333") AnnotationAssertion(rdfs:label "Hypoplasia of the frontal lobes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -78574,11 +78567,11 @@ AnnotationAssertion( "SNOMEDCT_US:249945007") AnnotationAssertion( "UMLS:C0427068") AnnotationAssertion( "UMLS:C1836296") -AnnotationAssertion(Annotation( ) "Lower extremity weakness") -AnnotationAssertion(Annotation( ) "Lower limb muscle weakness") -AnnotationAssertion(Annotation( ) "Lower limb weakness") -AnnotationAssertion(Annotation( ) "Muscle weakness in lower limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Leg weakness") +AnnotationAssertion(Annotation( ) "Lower extremity weakness") +AnnotationAssertion(Annotation( ) "Lower limb muscle weakness") +AnnotationAssertion(Annotation( ) "Lower limb weakness") +AnnotationAssertion(Annotation( ) "Muscle weakness in lower limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Leg weakness") AnnotationAssertion( "HP:0007340") AnnotationAssertion(rdfs:comment "Inability to perform rapid, alternating movements.") AnnotationAssertion(rdfs:label "Lower limb muscle weakness") @@ -78664,7 +78657,7 @@ SubClassOf( "MSH:D000690") AnnotationAssertion( "SNOMEDCT_US:86044005") AnnotationAssertion( "UMLS:C0002736") -AnnotationAssertion(Annotation( ) Annotation( ) "Lou Gehrig's disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Lou Gehrig's disease") AnnotationAssertion( "HP:0007354") AnnotationAssertion(rdfs:label "Amyotrophic lateral sclerosis") SubClassOf( ) @@ -78685,7 +78678,7 @@ AnnotationAssertion(Annotation( ) "Focal-onset seizures") AnnotationAssertion( "Partial seizure") AnnotationAssertion(Annotation( ) "Partial seizures") -AnnotationAssertion(Annotation( ) Annotation( ) "Seizure affecting one half of brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Seizure affecting one half of brain") AnnotationAssertion( "HP:0007359") AnnotationAssertion(rdfs:comment "In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure.") AnnotationAssertion(rdfs:label "Focal-onset seizure") @@ -78698,8 +78691,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006857") AnnotationAssertion( "HP:0007368") AnnotationAssertion( "UMLS:C3279222") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cerebellum") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cerebellum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cerebellum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cerebellum") AnnotationAssertion( "Atrophy/Degeneration affecting the cerebellum") AnnotationAssertion( "Atrophy/Hypoplasia of the cerebellum") AnnotationAssertion( "Cerebellar hypoplasia/atrophy") @@ -78728,8 +78721,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-31T05:33:00Z") AnnotationAssertion( "UMLS:C4024904") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small brainstem") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped brainstem") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small brainstem") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped brainstem") AnnotationAssertion( "HP:0007362") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the brainstem") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -78751,8 +78744,8 @@ SubClassOf( ) AnnotationAssertion( "2008-03-31T05:43:00Z") AnnotationAssertion( "UMLS:C4024902") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cerebrum") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cerebrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cerebrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cerebrum") AnnotationAssertion( "HP:0007364") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the cerebrum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -78924,11 +78917,11 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126768004") AnnotationAssertion( "UMLS:C0017185") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "GI tract tumor") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "GI tract tumor") AnnotationAssertion(Annotation( ) "GI tract tumour") AnnotationAssertion( "Gastrointestinal tract neoplasia") AnnotationAssertion( "Gastrointestinal tract neoplasm") -AnnotationAssertion(Annotation( ) "Gastrointestinal tract tumor") +AnnotationAssertion(Annotation( ) "Gastrointestinal tract tumor") AnnotationAssertion(Annotation( ) "Gastrointestinal tract tumour") AnnotationAssertion(Annotation( ) "Neoplasm of the GI tract") AnnotationAssertion( "HP:0007378") @@ -78946,7 +78939,7 @@ AnnotationAssertion( "UMLS:C0042065") AnnotationAssertion( "UMLS:C4020809") AnnotationAssertion( "Genitourinary tract neoplasm") -AnnotationAssertion(Annotation( ) "Genitourinary tract tumors") +AnnotationAssertion(Annotation( ) "Genitourinary tract tumors") AnnotationAssertion(Annotation( ) "Genitourinary tract tumours") AnnotationAssertion(Annotation( ) "Neoplasm of the GU tract") AnnotationAssertion( "Genitourinary tract neoplasia") @@ -78997,7 +78990,7 @@ AnnotationAssertion(Annotation( "HP:0000994") AnnotationAssertion( "HP:0007568") AnnotationAssertion( "Defect of scalp") -AnnotationAssertion(Annotation( ) Annotation( ) "Focal absence of scalp tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Focal absence of scalp tissue") AnnotationAssertion( "Scalp defect") AnnotationAssertion(Annotation( ) "Solitary scalp defect") AnnotationAssertion( "UMLS:C1855698") @@ -79015,7 +79008,7 @@ SubClassOf( ) "Underdevelopment of the sweat glands.") AnnotationAssertion( "UMLS:C1832455") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped sweat glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped sweat glands") AnnotationAssertion( "HP:0007387") AnnotationAssertion(rdfs:label "Hypoplastic sweat glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79031,7 +79024,7 @@ SubClassOf( (Excessive wrinkled skin) AnnotationAssertion( "UMLS:C4024890") -AnnotationAssertion(Annotation( ) "Excessive wrinkled skin") +AnnotationAssertion(Annotation( ) "Excessive wrinkled skin") AnnotationAssertion( "HP:0007392") AnnotationAssertion(rdfs:label "Excessive wrinkled skin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79042,8 +79035,8 @@ SubClassOf( "HP:0007577") AnnotationAssertion( "UMLS:C1848771") -AnnotationAssertion(Annotation( ) "Prominent superficial blood vessels") -AnnotationAssertion(Annotation( ) "Prominent superficial vasculature") +AnnotationAssertion(Annotation( ) "Prominent superficial blood vessels") +AnnotationAssertion(Annotation( ) "Prominent superficial vasculature") AnnotationAssertion( "HP:0007394") AnnotationAssertion(rdfs:label "Prominent superficial blood vessels") SubClassOf( ) @@ -79061,7 +79054,7 @@ SubClassOf( ) "Photosensitivity of the skin occurring early in life.") AnnotationAssertion( "UMLS:C4024889") -AnnotationAssertion(Annotation( ) Annotation( ) "Sun sensitivity occurring early in life") +AnnotationAssertion(Annotation( ) Annotation( ) "Sun sensitivity occurring early in life") AnnotationAssertion( "HP:0007396") AnnotationAssertion(rdfs:label "Early cutaneous photosensitivity") SubClassOf( ) @@ -79111,7 +79104,7 @@ SubClassOf( (Hypertrophy of skin of soles) AnnotationAssertion( "UMLS:C1867617") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick skin of soles") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick skin of soles") AnnotationAssertion( "HP:0007403") AnnotationAssertion(rdfs:label "Hypertrophy of skin of soles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79134,9 +79127,9 @@ AnnotationAssertion( "UMLS:C0155211") AnnotationAssertion( "UMLS:C0854438") AnnotationAssertion( "UMLS:C4280440") -AnnotationAssertion(Annotation( ) Annotation( ) "Dark eyelids") -AnnotationAssertion(Annotation( ) Annotation( ) "Brown eyelids") -AnnotationAssertion(Annotation( ) Annotation( ) "Pigmentation of eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Dark eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Brown eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Pigmentation of eyelids") AnnotationAssertion( "HP:0007406") AnnotationAssertion(rdfs:label "Hyperpigmentation of eyelids") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -79146,7 +79139,7 @@ SubClassOf( (Excessive skin wrinkling on dorsum of hands and fingers) AnnotationAssertion( "UMLS:C1837467") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive skin wrinkling on back of hands and fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive skin wrinkling on back of hands and fingers") AnnotationAssertion( "HP:0007407") AnnotationAssertion(rdfs:label "Excessive skin wrinkling on dorsum of hands and fingers") SubClassOf( ) @@ -79173,7 +79166,7 @@ AnnotationAssertion( "MSH:C563185") AnnotationAssertion( "SNOMEDCT_US:403375001") AnnotationAssertion( "UMLS:C1274743") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating of palms and soles") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating of palms and soles") AnnotationAssertion( "Hyperhidrosis of palms and soles") AnnotationAssertion( "HP:0007410") AnnotationAssertion(rdfs:label "Palmoplantar hyperhidrosis") @@ -79198,7 +79191,7 @@ SubClassOf( ) "Naevus flammeus localised in the skin of the forehead.") AnnotationAssertion( "UMLS:C1848850") -AnnotationAssertion(Annotation( ) Annotation( ) "Port-wine stain on forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Port-wine stain on forehead") AnnotationAssertion( "HP:0007413") AnnotationAssertion(rdfs:label "Nevus flammeus of the forehead") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79207,7 +79200,7 @@ SubClassOf( (Neonatal wrinkled skin of hands and feet) AnnotationAssertion( "UMLS:C4024884") -AnnotationAssertion(Annotation( ) Annotation( ) "Wrinkled skin of hands and feet in newborn") +AnnotationAssertion(Annotation( ) Annotation( ) "Wrinkled skin of hands and feet in newborn") AnnotationAssertion( "HP:0007414") AnnotationAssertion(rdfs:label "Neonatal wrinkled skin of hands and feet") SubClassOf( ) @@ -79258,8 +79251,8 @@ SubClassOf( (Hyperextensible skin of face) AnnotationAssertion( "UMLS:C4024883") -AnnotationAssertion(Annotation( ) Annotation( ) "Hyperelastic face skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Stretchable face skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Hyperelastic face skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Stretchable face skin") AnnotationAssertion( "HP:0007425") AnnotationAssertion(rdfs:label "Hyperextensible skin of face") SubClassOf( ) @@ -79280,7 +79273,7 @@ AnnotationAssertion(Annotation( "UMLS:C4024882") AnnotationAssertion(Annotation( ) "Angioectasia of the oral mucosa") AnnotationAssertion(Annotation( ) "Angioectasia of the oral mucous membrane") -AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the oral mucosa") +AnnotationAssertion(Annotation( ) Annotation( ) "Spider veins of the oral mucosa") AnnotationAssertion(Annotation( ) "Telangiectasia of the oral mucous membrane") AnnotationAssertion( "HP:0007428") AnnotationAssertion(rdfs:label "Telangiectasia of the oral mucosa") @@ -79407,7 +79400,7 @@ AnnotationAssertion( "UMLS:C0080024") AnnotationAssertion( "Congenital partial albinism on face, trunk, or limbs") AnnotationAssertion( "Congenital partial leucoderma") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial absent skin pigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial absent skin pigmentation") AnnotationAssertion( "HP:0007443") AnnotationAssertion(rdfs:label "Partial albinism") SubClassOf( ) @@ -79563,7 +79556,7 @@ SubClassOf( ) "Reduced number or density of facial hair.") AnnotationAssertion( "UMLS:C2017869") -AnnotationAssertion(Annotation( ) "Sparse facial hair") +AnnotationAssertion(Annotation( ) "Sparse facial hair") AnnotationAssertion( "HP:0007464") AnnotationAssertion(rdfs:label "Sparse facial hair") SubClassOf( ) @@ -79655,7 +79648,7 @@ AnnotationAssertion(Annotation( "HP:0007422") AnnotationAssertion( "SNOMEDCT_US:83145004") AnnotationAssertion( "UMLS:C0432333") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fingerprints") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fingerprints") AnnotationAssertion( "Dermatoglyphic abnormalities") AnnotationAssertion( "HP:0007477") AnnotationAssertion( ) @@ -79721,9 +79714,9 @@ AnnotationAssertion(Annotation( "HP:0007519") AnnotationAssertion( "UMLS:C0241267") AnnotationAssertion( "UMLS:C4024855") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent fat below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent fat below the skin") AnnotationAssertion( "General absence of subcutaneous fat") -AnnotationAssertion(Annotation( ) "Lack of fatty tissue below the skin") +AnnotationAssertion(Annotation( ) "Lack of fatty tissue below the skin") AnnotationAssertion( "HP:0007485") AnnotationAssertion(rdfs:label "Absence of subcutaneous fat") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79775,8 +79768,8 @@ SubClassOf( "HP:0001599") AnnotationAssertion( "UMLS:C1857656") -AnnotationAssertion(Annotation( ) "Precociously senile appearance") -AnnotationAssertion(Annotation( ) "Prematurely aged appearance") +AnnotationAssertion(Annotation( ) "Precociously senile appearance") +AnnotationAssertion(Annotation( ) "Prematurely aged appearance") AnnotationAssertion( "HP:0007495") AnnotationAssertion(rdfs:label "Prematurely aged appearance") SubClassOf( ) @@ -79794,7 +79787,7 @@ SubClassOf( ) "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.") AnnotationAssertion( "UMLS:C4024862") -AnnotationAssertion(Annotation( ) "Recurrent staphylococcal infections") +AnnotationAssertion(Annotation( ) "Recurrent staphylococcal infections") AnnotationAssertion( "HP:0007499") AnnotationAssertion(rdfs:label "Recurrent staphylococcal infections") SubClassOf( ) @@ -79805,8 +79798,8 @@ AnnotationAssertion(Annotation( "HP:0007555") AnnotationAssertion( "HP:0007594") AnnotationAssertion( "UMLS:C4021574") -AnnotationAssertion(Annotation( ) "Decreased sweat glands") -AnnotationAssertion(Annotation( ) "Decreased sweat pores") +AnnotationAssertion(Annotation( ) "Decreased sweat glands") +AnnotationAssertion(Annotation( ) "Decreased sweat pores") AnnotationAssertion( "HP:0007500") AnnotationAssertion(rdfs:label "Decreased number of sweat glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79858,7 +79851,7 @@ SubClassOf( (Congenital absence of skin of limbs) AnnotationAssertion( "UMLS:C4024858") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing skin on limbs since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing skin on limbs since birth") AnnotationAssertion( "HP:0007506") AnnotationAssertion(rdfs:label "Congenital absence of skin of limbs") SubClassOf( ) @@ -79899,9 +79892,9 @@ SubClassOf( "HP:0000984") AnnotationAssertion( "HP:0007419") AnnotationAssertion( "UMLS:C1849923") -AnnotationAssertion(Annotation( ) "Fair skin") +AnnotationAssertion(Annotation( ) "Fair skin") AnnotationAssertion(Annotation( ) "Generalised hypopigmentation") -AnnotationAssertion(Annotation( ) "Pale pigmentation") +AnnotationAssertion(Annotation( ) "Pale pigmentation") AnnotationAssertion( "HP:0007513") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Generalized hypopigmentation") @@ -79935,7 +79928,7 @@ SubClassOf( ) "Loose and sagging skin of the fingers.") AnnotationAssertion( "UMLS:C4024856") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra skin on fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra skin on fingers") AnnotationAssertion( "HP:0007516") AnnotationAssertion(rdfs:label "Redundant skin on fingers") SubClassOf( ) @@ -79945,11 +79938,11 @@ SubClassOf( ) "Loose, wrinkled skin of hands and feet.") AnnotationAssertion( "HP:0001016") AnnotationAssertion( "UMLS:C1856714") -AnnotationAssertion(Annotation( ) "Excessive wrinkled skin of palms and soles") +AnnotationAssertion(Annotation( ) "Excessive wrinkled skin of palms and soles") AnnotationAssertion( "Furrowed palms and soles") -AnnotationAssertion(Annotation( ) "Increased wrinkles of palms and soles") -AnnotationAssertion(Annotation( ) "Wrinkled palms and soles") -AnnotationAssertion(Annotation( ) "Wrinkled skin of hands and feet") +AnnotationAssertion(Annotation( ) "Increased wrinkles of palms and soles") +AnnotationAssertion(Annotation( ) "Wrinkled palms and soles") +AnnotationAssertion(Annotation( ) "Wrinkled skin of hands and feet") AnnotationAssertion( "HP:0007517") AnnotationAssertion(rdfs:label "Palmoplantar cutis laxa") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -79975,7 +79968,7 @@ SubClassOf( (Increased number of skin folds) AnnotationAssertion( "UMLS:C4024853") -AnnotationAssertion(Annotation( ) "Increased number of skin folds") +AnnotationAssertion(Annotation( ) "Increased number of skin folds") AnnotationAssertion( "HP:0007522") AnnotationAssertion(rdfs:label "Increased number of skin folds") SubClassOf( ) @@ -79999,7 +79992,7 @@ SubClassOf( "UMLS:C4024852") AnnotationAssertion( "Hypopigmented upper extremeity skin patches") -AnnotationAssertion(Annotation( ) Annotation( ) "Patchy loss of skin color on arms") +AnnotationAssertion(Annotation( ) Annotation( ) "Patchy loss of skin color on arms") AnnotationAssertion(Annotation( ) "Patchy loss of skin colour on arms") AnnotationAssertion( "HP:0007526") AnnotationAssertion(rdfs:label "Hypopigmented skin patches on arms") @@ -80047,7 +80040,7 @@ SubClassOf( ) "A severe degree of photosensitivity of the skin.") AnnotationAssertion( "UMLS:C1849186") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe sun sensitivity") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe sun sensitivity") AnnotationAssertion( "HP:0007537") AnnotationAssertion(rdfs:label "Severe photosensitivity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -80075,7 +80068,7 @@ SubClassOf( (Epidermal hyperkeratosis) AnnotationAssertion( "UMLS:C1848773") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of skin epidermis") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased thickness of skin epidermis") AnnotationAssertion( "HP:0007543") AnnotationAssertion(rdfs:label "Epidermal hyperkeratosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -80128,7 +80121,7 @@ SubClassOf( (Hypohidrosis or hyperhidrosis) AnnotationAssertion( "UMLS:C4021831") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of sweating or excessive sweating") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of sweating or excessive sweating") AnnotationAssertion( "HP:0007550") AnnotationAssertion(rdfs:label "Hypohidrosis or hyperhidrosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -80137,7 +80130,7 @@ SubClassOf( (Abnormal subcutaneous fat tissue distribution) AnnotationAssertion( "UMLS:C1859347") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fat tissue distribution below the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fat tissue distribution below the skin") AnnotationAssertion( "HP:0007552") AnnotationAssertion(rdfs:label "Abnormal subcutaneous fat tissue distribution") SubClassOf( ) @@ -80152,7 +80145,7 @@ SubClassOf( (Confetti hypopigmentation pattern of lower leg skin) AnnotationAssertion( "UMLS:C4024847") -AnnotationAssertion(Annotation( ) "Confetti hypopigmentation pattern of lower leg skin") +AnnotationAssertion(Annotation( ) "Confetti hypopigmentation pattern of lower leg skin") AnnotationAssertion( "HP:0007554") AnnotationAssertion(rdfs:label "Confetti hypopigmentation pattern of lower leg skin") SubClassOf( ) @@ -80196,8 +80189,8 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "The presence of six or more cafe-au-lait spots.") AnnotationAssertion( "HP:0007416") -AnnotationAssertion(Annotation( ) "Multiple birthmarks") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Multiple flat light-brown marks on skin") +AnnotationAssertion(Annotation( ) "Multiple birthmarks") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Multiple flat light-brown marks on skin") AnnotationAssertion( "MSH:C537421") AnnotationAssertion( "UMLS:C1861975") AnnotationAssertion( "HP:0007565") @@ -80245,14 +80238,14 @@ SubClassOf( "PMID:23984225") Annotation( "PMID:27904186") "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.") AnnotationAssertion( "UMLS:C4024843") AnnotationAssertion( "UMLS:C4280439") -AnnotationAssertion(Annotation( ) Annotation( ) "Late onset baby eczema") +AnnotationAssertion(Annotation( ) Annotation( ) "Late onset baby eczema") AnnotationAssertion( "HP:0007573") AnnotationAssertion(rdfs:label "Late onset atopic dermatitis") SubClassOf( ) # Class: (Generalized bronze hyperpigmentation) -AnnotationAssertion(Annotation( ) Annotation( ) "Bronze skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Bronze skin") AnnotationAssertion( "UMLS:C2939074") AnnotationAssertion( "UMLS:C4024842") AnnotationAssertion(Annotation( ) "Generalised bronze hyperpigmentation") @@ -80303,7 +80296,7 @@ SubClassOf( (Numerous pigmented freckles) AnnotationAssertion( "UMLS:C1968565") -AnnotationAssertion(Annotation( ) "Numerous pigmented freckles") +AnnotationAssertion(Annotation( ) "Numerous pigmented freckles") AnnotationAssertion( "HP:0007587") AnnotationAssertion(rdfs:label "Numerous pigmented freckles") SubClassOf( ) @@ -80347,7 +80340,7 @@ SubClassOf( (Redundant skin in infancy) AnnotationAssertion( "UMLS:C1835587") -AnnotationAssertion(Annotation( ) Annotation( ) "Excess skin in infancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Excess skin in infancy") AnnotationAssertion( "HP:0007595") AnnotationAssertion(rdfs:label "Redundant skin in infancy") SubClassOf( ) @@ -80356,7 +80349,7 @@ SubClassOf( ) "The presence of multiple subcutaneous lipoma that cause pain.") AnnotationAssertion( "UMLS:C4024838") -AnnotationAssertion(Annotation( ) Annotation( ) "Painful noncancerous fat tissue tumor under the skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Painful noncancerous fat tissue tumor under the skin") AnnotationAssertion(Annotation( ) "Painful noncancerous fat tissue tumour under the skin") AnnotationAssertion( "HP:0007596") AnnotationAssertion(rdfs:label "Painful subcutaneous lipomas") @@ -80402,7 +80395,7 @@ SubClassOf( (Freckles in sun-exposed areas) AnnotationAssertion( "UMLS:C1859923") -AnnotationAssertion(Annotation( ) "Freckles in sun-exposed areas") +AnnotationAssertion(Annotation( ) "Freckles in sun-exposed areas") AnnotationAssertion( "HP:0007603") AnnotationAssertion(rdfs:label "Freckles in sun-exposed areas") SubClassOf( ) @@ -80411,7 +80404,7 @@ SubClassOf( "HP:0007531") AnnotationAssertion( "UMLS:C4021572") -AnnotationAssertion(Annotation( ) "Redundant, wrinkled skin of palms") +AnnotationAssertion(Annotation( ) "Redundant, wrinkled skin of palms") AnnotationAssertion( "HP:0007605") AnnotationAssertion(rdfs:label "Excessive wrinkling of palmar skin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -80471,10 +80464,10 @@ AnnotationAssertion(Annotation( "UMLS:C0860468") AnnotationAssertion( "UMLS:C4024829") AnnotationAssertion( "UMLS:C4280438") -AnnotationAssertion(Annotation( ) Annotation( ) "Port-wine stain on neck") -AnnotationAssertion(Annotation( ) Annotation( ) "Stork bite") -AnnotationAssertion(Annotation( ) Annotation( ) "Angel's kiss") -AnnotationAssertion(Annotation( ) Annotation( ) "Salmon patch") +AnnotationAssertion(Annotation( ) Annotation( ) "Port-wine stain on neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Stork bite") +AnnotationAssertion(Annotation( ) Annotation( ) "Angel's kiss") +AnnotationAssertion(Annotation( ) Annotation( ) "Salmon patch") AnnotationAssertion( "HP:0007616") AnnotationAssertion(rdfs:comment "The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area.") AnnotationAssertion(rdfs:label "Nevus flammeus nuchae") @@ -80493,7 +80486,7 @@ SubClassOf( ) "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).") AnnotationAssertion( "SNOMEDCT_US:17141001") AnnotationAssertion( "UMLS:C0263625") -AnnotationAssertion(Annotation( ) "Skin calcification") +AnnotationAssertion(Annotation( ) "Skin calcification") AnnotationAssertion( "HP:0007618") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Subcutaneous calcification") @@ -80525,7 +80518,7 @@ SubClassOf( (Pigmentation anomalies of sun-exposed skin) AnnotationAssertion( "UMLS:C4024826") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal pigmentation in sun-exposed skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal pigmentation in sun-exposed skin") AnnotationAssertion( "HP:0007623") AnnotationAssertion(rdfs:label "Pigmentation anomalies of sun-exposed skin") SubClassOf( ) @@ -80536,7 +80529,7 @@ AnnotationAssertion( "HP:0005869") AnnotationAssertion( "SNOMEDCT_US:109695005") AnnotationAssertion( "UMLS:C1290708") -AnnotationAssertion(Annotation( ) "Lower jaw bone infection") +AnnotationAssertion(Annotation( ) "Lower jaw bone infection") AnnotationAssertion( "Osteomyelitis, especially of the mandible") AnnotationAssertion( "HP:0007626") AnnotationAssertion(rdfs:label "Mandibular osteomyelitis") @@ -80606,12 +80599,12 @@ SubClassOf( ) "A developmental anomaly characterized by abnormal smallness of both eyes.") AnnotationAssertion( "HP:0001143") AnnotationAssertion( "HP:0001585") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of eyeballs") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of eyeballs") AnnotationAssertion(Annotation( ) "Decreased size of globes of eyes") AnnotationAssertion( "UMLS:C1843496") AnnotationAssertion( "UMLS:C4280421") AnnotationAssertion( "UMLS:C4280422") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyeball on both sides") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyeball on both sides") AnnotationAssertion( "Microphthalmia, bilateral") AnnotationAssertion(Annotation( ) "Bilateral nanophthalmos") AnnotationAssertion( "HP:0007633") @@ -80633,7 +80626,7 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_ncarter") "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.") AnnotationAssertion( "UMLS:C0858618") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Color blindness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Color blindness") AnnotationAssertion(Annotation( ) "Colour blindness") AnnotationAssertion( "HP:0007641") AnnotationAssertion(rdfs:label "Dyschromatopsia") @@ -80654,7 +80647,7 @@ AnnotationAssertion( "UMLS:C3551052") AnnotationAssertion( "UMLS:C4048798") AnnotationAssertion( "Congenital night blindness") -AnnotationAssertion(Annotation( ) Annotation( ) "Night blindness since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Night blindness since birth") AnnotationAssertion( "Static congenital hemeralopia") AnnotationAssertion(Annotation( ) "Night blindness, congenital") AnnotationAssertion(Annotation( ) "Night blindness, congenital stationary") @@ -80680,9 +80673,9 @@ SubClassOf( ) "Lack of eyelashes on the lower lid.") AnnotationAssertion( "UMLS:C4024824") -AnnotationAssertion(Annotation( ) "Absent lower eyelashes") +AnnotationAssertion(Annotation( ) "Absent lower eyelashes") AnnotationAssertion( "Atrichia of lower eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of lower eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of lower eyelashes") AnnotationAssertion(Annotation( ) "Agenesis of lower eyelashes") AnnotationAssertion(Annotation( ) "Aplasia of lower eyelashes") AnnotationAssertion( "HP:0007646") @@ -80728,11 +80721,11 @@ SubClassOf( (Ectropion of lower eyelids) -AnnotationAssertion(Annotation( ) Annotation( ) "Lower eyelid folded out") +AnnotationAssertion(Annotation( ) Annotation( ) "Lower eyelid folded out") AnnotationAssertion( "SNOMEDCT_US:95758006") AnnotationAssertion( "UMLS:C0521736") AnnotationAssertion( "UMLS:C4020808") -AnnotationAssertion(Annotation( ) Annotation( ) "Lower eyelid turned out") +AnnotationAssertion(Annotation( ) Annotation( ) "Lower eyelid turned out") AnnotationAssertion( "Everted lower eyelids") AnnotationAssertion( "HP:0007651") AnnotationAssertion(rdfs:label "Ectropion of lower eyelids") @@ -80756,7 +80749,7 @@ SubClassOf( ) "A congenital defect of development characterized by absence of the lacrimal gland.") AnnotationAssertion( "UMLS:C4024822") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent tear gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent tear gland") AnnotationAssertion( "HP:0007656") AnnotationAssertion(rdfs:label "Lacrimal gland aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -80802,7 +80795,7 @@ AnnotationAssertion( "SNOMEDCT_US:13164000") AnnotationAssertion( "UMLS:C0234632") AnnotationAssertion( "Decreased central vision") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Decreased clarity of vision") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Decreased clarity of vision") AnnotationAssertion( "Decreased visual acuity") AnnotationAssertion( "Poor visual acuity") AnnotationAssertion( "HP:0007663") @@ -80813,7 +80806,7 @@ SubClassOf( ) "Abnormally curly or curved eyelashes.") AnnotationAssertion( "UMLS:C2673670") -AnnotationAssertion(Annotation( ) "Curly eyelashes") +AnnotationAssertion(Annotation( ) "Curly eyelashes") AnnotationAssertion( "HP:0007665") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Curly eyelashes") @@ -80850,7 +80843,7 @@ SubClassOf( (Progressive night blindness) AnnotationAssertion( "UMLS:C4024818") -AnnotationAssertion(Annotation( ) "Progressive night blindness") +AnnotationAssertion(Annotation( ) "Progressive night blindness") AnnotationAssertion( "HP:0007675") AnnotationAssertion(rdfs:label "Progressive night blindness") SubClassOf( ) @@ -80865,7 +80858,7 @@ AnnotationAssertion( "UMLS:C0344539") AnnotationAssertion( "Hypoplastic iris") AnnotationAssertion( "Iris hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped iris") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped iris") AnnotationAssertion( "HP:0007676") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hypoplasia of the iris") @@ -80892,7 +80885,7 @@ AnnotationAssertion(Annotation( "HP:0007669") AnnotationAssertion( "SNOMEDCT_US:231841004") AnnotationAssertion( "UMLS:C0238300") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the tear duct") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the tear duct") AnnotationAssertion( "Nasolacrimal duct stenosis") AnnotationAssertion( "HP:0007678") AnnotationAssertion(rdfs:label "Lacrimal duct stenosis") @@ -80930,7 +80923,7 @@ SubClassOf( ) "A unilateral form of ptosis.") AnnotationAssertion( "UMLS:C1866806") -AnnotationAssertion(Annotation( ) Annotation( ) "Dropping of one upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Dropping of one upper eyelid") AnnotationAssertion( "HP:0007687") AnnotationAssertion(rdfs:label "Unilateral ptosis") SubClassOf( ) @@ -80981,13 +80974,13 @@ SubClassOf( (Hypoplasia of the lower eyelids) AnnotationAssertion(Annotation( ) "Underdevelopment of the lower eyelid.") -AnnotationAssertion(Annotation( ) Annotation( ) "Small lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Small lower eyelid") AnnotationAssertion( "UMLS:C4024814") AnnotationAssertion( "UMLS:C4280270") AnnotationAssertion( "UMLS:C4280420") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of lower eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of lower eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Short lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Short lower eyelid") AnnotationAssertion(Annotation( ) "Hypotrophic lower eyelid") AnnotationAssertion( "HP:0007697") AnnotationAssertion(rdfs:label "Hypoplasia of the lower eyelids") @@ -81078,7 +81071,7 @@ SubClassOf( (Absent inner eyelashes) AnnotationAssertion( "UMLS:C4024812") -AnnotationAssertion(Annotation( ) "Absent inner eyelashes") +AnnotationAssertion(Annotation( ) "Absent inner eyelashes") AnnotationAssertion( "HP:0007708") AnnotationAssertion(rdfs:label "Absent inner eyelashes") SubClassOf( ) @@ -81199,7 +81192,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:247032003") AnnotationAssertion( "SNOMEDCT_US:70397008") AnnotationAssertion( "UMLS:C0154920") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Light eye color") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Light eye color") AnnotationAssertion(Annotation( ) "Light eye colour") AnnotationAssertion( "Reduced iris pigmentation") AnnotationAssertion( "HP:0007730") @@ -81221,7 +81214,7 @@ SubClassOf( ) "Underdevelopment of the lacrimal gland.") AnnotationAssertion( "UMLS:C1863200") AnnotationAssertion( "Hypoplastic lacrimal gland") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped tear gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped tear gland") AnnotationAssertion( "HP:0007732") AnnotationAssertion(rdfs:label "Lacrimal gland hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -81238,7 +81231,7 @@ SubClassOf( ) "Abnormally big lacrimal glands.") AnnotationAssertion( "UMLS:C1867030") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged tear gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged tear gland") AnnotationAssertion( "HP:0007734") AnnotationAssertion(rdfs:label "Enlarged lacrimal glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -81284,7 +81277,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Long eyelashes in irregular rows) AnnotationAssertion( "UMLS:C1850640") -AnnotationAssertion(Annotation( ) "Long eyelashes in irregular rows") +AnnotationAssertion(Annotation( ) "Long eyelashes in irregular rows") AnnotationAssertion( "HP:0007740") AnnotationAssertion(rdfs:label "Long eyelashes in irregular rows") SubClassOf( ) @@ -81467,7 +81460,7 @@ SubClassOf( "UMLS:C1854685") AnnotationAssertion( "Retinal hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped retina") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped retina") AnnotationAssertion( "HP:0007770") AnnotationAssertion(rdfs:label "Hypoplasia of the retina") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -81515,9 +81508,9 @@ AnnotationAssertion( "UMLS:C1835148") AnnotationAssertion(Annotation( ) "Hypotrichosis of lower eyelashes") AnnotationAssertion( "Partial absence of lower eyelashes") -AnnotationAssertion(Annotation( ) "Scanty lower eyelashes") -AnnotationAssertion(Annotation( ) "Sparse lower eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin lower eyelashes") +AnnotationAssertion(Annotation( ) "Scanty lower eyelashes") +AnnotationAssertion(Annotation( ) "Sparse lower eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin lower eyelashes") AnnotationAssertion( "HP:0007776") AnnotationAssertion(rdfs:label "Sparse lower eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -81657,7 +81650,7 @@ AnnotationAssertion(Annotation( "UMLS:C1835117") AnnotationAssertion( "Globe elongated") AnnotationAssertion( "Increased axial globe length") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased front to back length of eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased front to back length of eyeball") AnnotationAssertion( "HP:0007800") AnnotationAssertion(rdfs:label "Increased axial length of the globe") SubClassOf( ) @@ -81689,7 +81682,7 @@ AnnotationAssertion( "UMLS:C0152200") AnnotationAssertion( "UMLS:C1857618") AnnotationAssertion( "Complete achromatopsia") -AnnotationAssertion(Annotation( ) Annotation( ) "Total colorblindness") +AnnotationAssertion(Annotation( ) Annotation( ) "Total colorblindness") AnnotationAssertion( "HP:0007803") AnnotationAssertion(rdfs:comment "Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey.") AnnotationAssertion(rdfs:label "Monochromacy") @@ -81863,7 +81856,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Inability to see well at night or in poor light with onset in adulthood.") AnnotationAssertion( "UMLS:C4024790") -AnnotationAssertion(Annotation( ) "Adult-onset night blindness") +AnnotationAssertion(Annotation( ) "Adult-onset night blindness") AnnotationAssertion( "HP:0007830") AnnotationAssertion(rdfs:label "Adult-onset night blindness") SubClassOf( ) @@ -81879,7 +81872,7 @@ SubClassOf( (Pigmentation of the sclera) -AnnotationAssertion(Annotation( ) Annotation( ) "Pigmentation of the outer white part of the eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Pigmentation of the outer white part of the eyeball") AnnotationAssertion( "UMLS:C1859882") AnnotationAssertion( "HP:0007832") AnnotationAssertion(rdfs:label "Pigmentation of the sclera") @@ -81907,8 +81900,8 @@ SubClassOf( (S-shaped palpebral fissures) AnnotationAssertion( "UMLS:C4024787") -AnnotationAssertion(Annotation( ) Annotation( ) "S-shaped eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "S-shaped opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "S-shaped eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "S-shaped opening between the eyelids") AnnotationAssertion( "HP:0007835") AnnotationAssertion(rdfs:label "S-shaped palpebral fissures") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -81925,7 +81918,7 @@ SubClassOf( ) "A progressive form of ptosis.") AnnotationAssertion( "UMLS:C1834015") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressive drooping of upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressive drooping of upper eyelid") AnnotationAssertion( "HP:0007838") AnnotationAssertion(rdfs:label "Progressive ptosis") SubClassOf( ) @@ -81935,8 +81928,8 @@ SubClassOf( ) "Increased length of the upper eyelashes.") AnnotationAssertion( "UMLS:C4024785") AnnotationAssertion( "Ciliary trichomegaly of upper eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of upper eyelashes") -AnnotationAssertion(Annotation( ) "Long upper eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of upper eyelashes") +AnnotationAssertion(Annotation( ) "Long upper eyelashes") AnnotationAssertion( "HP:0007840") AnnotationAssertion(rdfs:label "Long upper eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -81956,7 +81949,7 @@ SubClassOf( (Attenuation of retinal blood vessels) AnnotationAssertion( "UMLS:C3278975") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of blood vessels in back of eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of blood vessels in back of eye") AnnotationAssertion( "HP:0007843") AnnotationAssertion(rdfs:label "Attenuation of retinal blood vessels") SubClassOf( ) @@ -82090,8 +82083,8 @@ SubClassOf( "PMID:19125427") "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.") AnnotationAssertion( "UMLS:C4024780") -AnnotationAssertion(Annotation( ) Annotation( ) "Almond shaped eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "Almond-shaped opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Almond shaped eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Almond-shaped opening between the eyelids") AnnotationAssertion( "HP:0007874") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow.") @@ -82104,7 +82097,7 @@ AnnotationAssertion(Annotation( "HP:0007706") AnnotationAssertion( "SNOMEDCT_US:95486002") AnnotationAssertion( "UMLS:C0005754") -AnnotationAssertion(Annotation( ) Annotation( ) "Blindness present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Blindness present at birth") AnnotationAssertion( "Congenital amaurosis") AnnotationAssertion( "HP:0007875") AnnotationAssertion(rdfs:label "Congenital blindness") @@ -82157,7 +82150,7 @@ SubClassOf( ) "Congenital absence of the extraocular muscles.") AnnotationAssertion( "UMLS:C1408781") AnnotationAssertion( "UMLS:C4024777") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing eye muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing eye muscles") AnnotationAssertion( "Absent ocular muscles") AnnotationAssertion( "HP:0007886") AnnotationAssertion(rdfs:label "Absent extraocular muscles") @@ -82229,7 +82222,7 @@ SubClassOf( (Hypoplastic lacrimal duct) AnnotationAssertion( "UMLS:C1968574") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped tear duct") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped tear duct") AnnotationAssertion( "HP:0007900") AnnotationAssertion(rdfs:label "Hypoplastic lacrimal duct") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -82268,7 +82261,7 @@ SubClassOf( (Abnormal iris vasculature) AnnotationAssertion( "UMLS:C3275963") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of iris blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of iris blood vessels") AnnotationAssertion( "HP:0007905") AnnotationAssertion(rdfs:label "Abnormal iris vasculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -82282,7 +82275,7 @@ AnnotationAssertion( "UMLS:C0234708") AnnotationAssertion(Annotation( ) "Elevated IOP") AnnotationAssertion( "Elevated intraocular pressure") -AnnotationAssertion(Annotation( ) "High eye pressure") +AnnotationAssertion(Annotation( ) "High eye pressure") AnnotationAssertion(Annotation( ) "Increased IOP") AnnotationAssertion( "Increased intraocular pressure") AnnotationAssertion(Annotation( ) "Raised IOP") @@ -82303,7 +82296,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "HP:0007719") AnnotationAssertion( "HP:0007955") AnnotationAssertion( "UMLS:C1836264") -AnnotationAssertion(Annotation( ) Annotation( ) "Congenital drooping of both upper eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Congenital drooping of both upper eyelids") AnnotationAssertion( "Ptosis, bilateral congenital") AnnotationAssertion( "Ptosis, congenital bilateral") AnnotationAssertion( "HP:0007911") @@ -82376,7 +82369,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "HP:0007652") AnnotationAssertion( "UMLS:C1853141") AnnotationAssertion( "UMLS:C3278981") -AnnotationAssertion(Annotation( ) Annotation( ) "Slow decrease in sharpness of vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Slow decrease in sharpness of vision") AnnotationAssertion( "Subacute deterioration of visual acuity") AnnotationAssertion(Annotation( ) "Decreased visual acuity, slowly progressive") AnnotationAssertion( "HP:0007924") @@ -82387,7 +82380,7 @@ SubClassOf( ) "A congenital defect resulting in absence of the lacrimal duct.") AnnotationAssertion( "UMLS:C4024773") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent tear duct") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent tear duct") AnnotationAssertion( "HP:0007925") AnnotationAssertion(rdfs:label "Lacrimal duct aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -82528,7 +82521,7 @@ AnnotationAssertion(Annotation( "UMLS:C1866805") AnnotationAssertion( "UMLS:C4280419") AnnotationAssertion( "Narrow palpebral fissure, unilateral") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal size of opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal size of opening between the eyelids") AnnotationAssertion( "HP:0007946") AnnotationAssertion(rdfs:label "Unilateral narrow palpebral fissure") SubClassOf( ) @@ -82668,7 +82661,7 @@ SubClassOf( "SNOMEDCT_US:268163008") AnnotationAssertion( "SNOMEDCT_US:61989004") AnnotationAssertion( "UMLS:C0266573") -AnnotationAssertion(Annotation( ) Annotation( ) "Congenital drooping upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Congenital drooping upper eyelid") AnnotationAssertion( "HP:0007970") AnnotationAssertion(rdfs:label "Congenital ptosis") SubClassOf( ) @@ -82770,7 +82763,7 @@ SubClassOf( ) "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.") AnnotationAssertion( "UMLS:C4024761") -AnnotationAssertion(Annotation( ) Annotation( ) "Blocked retinal artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Blocked retinal artery") AnnotationAssertion( "HP:0007985") AnnotationAssertion(rdfs:label "Retinal arteriolar occlusion") SubClassOf( ) @@ -82833,7 +82826,7 @@ SubClassOf( ) "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.") AnnotationAssertion( "UMLS:C4024757") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformed tear ducts") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformed tear ducts") AnnotationAssertion( "HP:0007993") AnnotationAssertion(rdfs:label "Malformed lacrimal duct") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -82846,8 +82839,8 @@ AnnotationAssertion( "UMLS:C0241688") AnnotationAssertion( "UMLS:C2937228") AnnotationAssertion(Annotation( ) Annotation( ) "Kalnienk vision") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of peripheral vision") -AnnotationAssertion(Annotation( ) "Tunnel vision") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of peripheral vision") +AnnotationAssertion(Annotation( ) "Tunnel vision") AnnotationAssertion( "HP:0007994") AnnotationAssertion(rdfs:label "Peripheral visual field loss") SubClassOf( ) @@ -82919,8 +82912,8 @@ AnnotationAssertion(owl:deprecated " # Class: (Three rows of eyelashes) AnnotationAssertion( "UMLS:C1860785") -AnnotationAssertion(Annotation( ) "Three rows of eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Triple row of eyelashes") +AnnotationAssertion(Annotation( ) "Three rows of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Triple row of eyelashes") AnnotationAssertion( "HP:0008009") AnnotationAssertion(rdfs:label "Three rows of eyelashes") SubClassOf( ) @@ -83070,7 +83063,7 @@ SubClassOf( ) "Absence or underdevelopment of the lacrimal gland.") AnnotationAssertion( "UMLS:C1835602") AnnotationAssertion(Annotation( ) "Absent/underdeveloped lacrimal glands") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped tear glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped tear glands") AnnotationAssertion( "HP:0008038") AnnotationAssertion(rdfs:label "Aplastic/hypoplastic lacrimal glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83119,7 +83112,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-02T12:09:00Z") AnnotationAssertion( "UMLS:C4024753") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of retina blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of retina blood vessels") AnnotationAssertion( "Abnormality of the retinal vasculature") AnnotationAssertion( "HP:0008046") AnnotationAssertion(rdfs:label "Abnormal retinal vascular morphology") @@ -83132,7 +83125,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-02T12:10:00Z") AnnotationAssertion( "UMLS:C4024752") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eye blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eye blood vessels") AnnotationAssertion( "HP:0008047") AnnotationAssertion(rdfs:label "Abnormality of the vasculature of the eye") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83171,8 +83164,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-02T01:22:00Z") AnnotationAssertion( "UMLS:C4024750") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the opening between the eyelids") -AnnotationAssertion(Annotation( ) "Abnormality of the palpebral fissures") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the opening between the eyelids") +AnnotationAssertion(Annotation( ) "Abnormality of the palpebral fissures") AnnotationAssertion(Annotation( ) "Deformity of the palpebral fissures") AnnotationAssertion(Annotation( ) "Malformation of the palpebral fissures") AnnotationAssertion( "HP:0008050") @@ -83205,8 +83198,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-02T01:50:00Z") AnnotationAssertion( "UMLS:C4024748") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small iris") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped iris") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small iris") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped iris") AnnotationAssertion( "HP:0008053") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the iris") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83247,8 +83240,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-02T03:25:00Z") AnnotationAssertion( "UMLS:C4024745") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped eye") AnnotationAssertion( "HP:0008056") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia affecting the eye") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83271,8 +83264,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-02T03:28:00Z") AnnotationAssertion( "UMLS:C4024743") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small optic nerve") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped optic nerve") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small optic nerve") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped optic nerve") AnnotationAssertion( "HP:0008058") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the optic nerve") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83309,8 +83302,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-02T03:30:00Z") AnnotationAssertion( "UMLS:C4024740") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small retina") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped retina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small retina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped retina") AnnotationAssertion( "HP:0008061") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the retina") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83335,8 +83328,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-02T03:33:00Z") AnnotationAssertion( "UMLS:C4024738") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small lens") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped lens") AnnotationAssertion( "HP:0008063") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the lens") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83367,8 +83360,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-02T03:44:00Z") AnnotationAssertion( "UMLS:C4024737") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped skin") AnnotationAssertion( "HP:0008065") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the skin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83385,13 +83378,13 @@ AnnotationAssertion( "UMLS:C0241054") AnnotationAssertion( "UMLS:C2132198") AnnotationAssertion( "UMLS:C2220104") -AnnotationAssertion(Annotation( ) "Abnormal blistering of the skin") +AnnotationAssertion(Annotation( ) "Abnormal blistering of the skin") AnnotationAssertion( "Blister") AnnotationAssertion(Annotation( ) "Blistering, generalised") -AnnotationAssertion(Annotation( ) "Blistering, generalized") -AnnotationAssertion(Annotation( ) "Blisters") +AnnotationAssertion(Annotation( ) "Blistering, generalized") +AnnotationAssertion(Annotation( ) "Blisters") AnnotationAssertion( "Skin bullae") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin blisters") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin blisters") AnnotationAssertion( "HP:0008066") AnnotationAssertion(rdfs:comment "A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present.") AnnotationAssertion(rdfs:label "Abnormal blistering of the skin") @@ -83403,8 +83396,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-02T03:56:00Z") AnnotationAssertion( "UMLS:C4024736") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally loose or hyperelastic skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally loose or stretchable skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally loose or hyperelastic skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally loose or stretchable skin") AnnotationAssertion( "HP:0008067") AnnotationAssertion(rdfs:label "Abnormally lax or hyperextensible skin") SubClassOf( ) @@ -83414,7 +83407,7 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-04-02T04:01:00Z") -AnnotationAssertion(Annotation( ) "Skin cancer (non-melanoma)") +AnnotationAssertion(Annotation( ) "Skin cancer (non-melanoma)") AnnotationAssertion( "MSH:D012878") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126488004") @@ -83423,12 +83416,12 @@ AnnotationAssertion( "UMLS:C0037286") AnnotationAssertion(Annotation( ) "Dermatological tumors") AnnotationAssertion(Annotation( ) "Dermatological tumours") -AnnotationAssertion(Annotation( ) "Skin tumors") +AnnotationAssertion(Annotation( ) "Skin tumors") AnnotationAssertion(Annotation( ) "Skin tumours") -AnnotationAssertion(Annotation( ) "Tumor of the skin") +AnnotationAssertion(Annotation( ) "Tumor of the skin") AnnotationAssertion(Annotation( ) "Tumour of the skin") AnnotationAssertion( "Neoplasia of the skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin cancer") AnnotationAssertion( "HP:0008069") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Neoplasm of the skin") @@ -83459,9 +83452,9 @@ AnnotationAssertion( "Decreased hair growth on body") AnnotationAssertion( "Hypotrichosis") AnnotationAssertion( "Marked hypotrichosis") -AnnotationAssertion(Annotation( ) "Sparse hair") +AnnotationAssertion(Annotation( ) "Sparse hair") AnnotationAssertion( "Sparse hair since birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin, sparse hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin, sparse hair") AnnotationAssertion( "HP:0008070") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter.") @@ -83490,7 +83483,7 @@ SubClassOf( "PMID:19038077") "An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.") AnnotationAssertion( "UMLS:C4024734") -AnnotationAssertion(Annotation( ) "Low maternal serum estriol") +AnnotationAssertion(Annotation( ) "Low maternal serum estriol") AnnotationAssertion( "HP:0008073") AnnotationAssertion(rdfs:label "Low maternal circulating estriol concentration") SubClassOf( ) @@ -83531,7 +83524,7 @@ SubClassOf( ) "A developmental abnormality characterized by the absence of the fifth metatarsal bone.") AnnotationAssertion( "HP:0010670") AnnotationAssertion( "UMLS:C1867932") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 5th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 5th long bone of foot") AnnotationAssertion( "Absent 5th metatarsals") AnnotationAssertion( "Aplasia of the fifth metatarsal bone") AnnotationAssertion( "HP:0008079") @@ -83572,7 +83565,7 @@ SubClassOf( (2nd-5th toe middle phalangeal hypoplasia) AnnotationAssertion( "UMLS:C1861376") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped 2nd-5th middle toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped 2nd-5th middle toe bones") AnnotationAssertion( "HP:0008083") AnnotationAssertion(rdfs:label "2nd-5th toe middle phalangeal hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83591,7 +83584,7 @@ SubClassOf( ) "An anomaly of the fifth metatarsal bone.") AnnotationAssertion( "UMLS:C4024733") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 5th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 5th long bone of foot") AnnotationAssertion( "HP:0008089") AnnotationAssertion(rdfs:label "Abnormality of the fifth metatarsal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83609,8 +83602,8 @@ SubClassOf( ) "Underdevelopment (hypoplasia) of the fourth toe.") AnnotationAssertion( "UMLS:C1862083") -AnnotationAssertion(Annotation( ) "Short 4th toe") -AnnotationAssertion(Annotation( ) "Short fourth toe") +AnnotationAssertion(Annotation( ) "Short 4th toe") +AnnotationAssertion(Annotation( ) "Short fourth toe") AnnotationAssertion( "HP:0008093") AnnotationAssertion(rdfs:label "Short 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83621,7 +83614,7 @@ SubClassOf( ) Annotation( "PMID:19125433") "An overall widening of the spaces between the digits.") AnnotationAssertion( "HP:0008077") AnnotationAssertion( "UMLS:C1969238") -AnnotationAssertion(Annotation( ) "Widely spaced toes") +AnnotationAssertion(Annotation( ) "Widely spaced toes") AnnotationAssertion( "HP:0008094") AnnotationAssertion(rdfs:comment "This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap).") AnnotationAssertion(rdfs:label "Widely spaced toes") @@ -83667,7 +83660,7 @@ AnnotationAssertion( "UMLS:C1846853") AnnotationAssertion( "UMLS:C4280418") AnnotationAssertion( "Tarsal delayed ossification") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed ankle bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed ankle bone maturation") AnnotationAssertion( "HP:0008103") AnnotationAssertion(rdfs:label "Delayed tarsal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -83688,7 +83681,7 @@ AnnotationAssertion( "UMLS:C1849293") AnnotationAssertion( "UMLS:C4280417") AnnotationAssertion( "Precociously ossified tarsal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated ankle bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Accelerated ankle bone maturation") AnnotationAssertion( "HP:0008108") AnnotationAssertion(rdfs:label "Advanced tarsal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -83743,7 +83736,7 @@ SubClassOf( (Clinodactyly of the 3rd toe) AnnotationAssertion(Annotation( ) "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of 3rd toe") AnnotationAssertion( "UMLS:C4021555") AnnotationAssertion( "UMLS:C4280416") AnnotationAssertion( "3rd toe clinodactyly") @@ -83772,7 +83765,7 @@ SubClassOf( (Deformed tarsal bones) AnnotationAssertion( "UMLS:C1856746") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformed ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformed ankle bones") AnnotationAssertion( "HP:0008119") AnnotationAssertion(rdfs:label "Deformed tarsal bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83857,7 +83850,7 @@ AnnotationAssertion( "UMLS:C4280415") AnnotationAssertion( "Irregular tarsal centers") AnnotationAssertion(Annotation( ) "Irregular tarsal centres") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular ankle bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular ankle bone maturation") AnnotationAssertion( "HP:0008134") AnnotationAssertion(rdfs:label "Irregular tarsal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -83877,7 +83870,7 @@ SubClassOf( "SNOMEDCT_US:263030002") AnnotationAssertion( "UMLS:C0434717") -AnnotationAssertion(Annotation( ) "Dislocation of toes") +AnnotationAssertion(Annotation( ) "Dislocation of toes") AnnotationAssertion( "HP:0008141") AnnotationAssertion(rdfs:label "Dislocation of toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -83889,7 +83882,7 @@ SubClassOf( ) "Delayed maturation and calcification of the calcaneus.") AnnotationAssertion( "UMLS:C4024728") AnnotationAssertion( "UMLS:C4280414") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed heel bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed heel bone maturation") AnnotationAssertion( "HP:0008142") AnnotationAssertion(rdfs:label "Delayed calcaneal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -84010,7 +84003,7 @@ AnnotationAssertion( "Decreased cortisol production") AnnotationAssertion( "Glucocorticoid insufficiency") AnnotationAssertion( "Hypocortisolemia") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cortisol level") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cortisol level") AnnotationAssertion( "Low to undetectable plasma cortisol") AnnotationAssertion( "Plasma cortisol low") AnnotationAssertion( "Hypocortisolism") @@ -84128,7 +84121,7 @@ SubClassOf( (Adrenocortical hypoplasia) AnnotationAssertion( "UMLS:C4024719") -AnnotationAssertion(Annotation( ) Annotation( ) "Small adrenal cortex") +AnnotationAssertion(Annotation( ) Annotation( ) "Small adrenal cortex") AnnotationAssertion( "HP:0008182") AnnotationAssertion(rdfs:label "Adrenocortical hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -84138,7 +84131,7 @@ SubClassOf( ) "The onset of puberty before the age of 9 years in boys.") AnnotationAssertion( "UMLS:C1859979") -AnnotationAssertion(Annotation( ) Annotation( ) "Early onset of puberty in males") +AnnotationAssertion(Annotation( ) Annotation( ) "Early onset of puberty in males") AnnotationAssertion( "Male precocious puberty") AnnotationAssertion( "HP:0008185") AnnotationAssertion(rdfs:label "Precocious puberty in males") @@ -84295,7 +84288,7 @@ SubClassOf( ) "Hyperplasia of the parathyroid gland.") AnnotationAssertion( "SNOMEDCT_US:9092004") AnnotationAssertion( "UMLS:C0271844") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged parathyroid glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged parathyroid glands") AnnotationAssertion( "HP:0008208") AnnotationAssertion(rdfs:comment "An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands.") AnnotationAssertion(rdfs:label "Parathyroid hyperplasia") @@ -84313,11 +84306,11 @@ AnnotationAssertion( "UMLS:C0025322") AnnotationAssertion( "UMLS:C0085215") AnnotationAssertion( "Climacterium praecox") -AnnotationAssertion(Annotation( ) Annotation( ) "Early menopause") +AnnotationAssertion(Annotation( ) Annotation( ) "Early menopause") AnnotationAssertion( "Hypergonadotropic amenorrhea") AnnotationAssertion( "Menopause praecox") -AnnotationAssertion(Annotation( ) "Premature menopause") -AnnotationAssertion(Annotation( ) "Premature ovarian failure") +AnnotationAssertion(Annotation( ) "Premature menopause") +AnnotationAssertion(Annotation( ) "Premature ovarian failure") AnnotationAssertion( "Primary ovarian insufficiency") AnnotationAssertion( "HP:0008209") AnnotationAssertion(rdfs:comment "The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years).") @@ -84354,7 +84347,7 @@ SubClassOf( "A reduction below normal concentration of estradiol in the circulation.") AnnotationAssertion( "SNOMEDCT_US:166449002") AnnotationAssertion( "UMLS:C0241011") -AnnotationAssertion(Annotation( ) "Decreased serum estradiol") +AnnotationAssertion(Annotation( ) "Decreased serum estradiol") AnnotationAssertion( "HP:0008214") AnnotationAssertion(rdfs:label "Decreased serum estradiol") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -84376,7 +84369,7 @@ SubClassOf( ) "Enlargement of the adrenal gland.") AnnotationAssertion( "SNOMEDCT_US:419920004") AnnotationAssertion( "UMLS:C1621895") -AnnotationAssertion(Annotation( ) "Enlarged adrenal glands") +AnnotationAssertion(Annotation( ) "Enlarged adrenal glands") AnnotationAssertion( "HP:0008221") AnnotationAssertion(rdfs:label "Adrenal hyperplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -84387,7 +84380,7 @@ SubClassOf( "MSH:D007247") AnnotationAssertion( "SNOMEDCT_US:6738008") AnnotationAssertion( "UMLS:C0021361") -AnnotationAssertion(Annotation( ) "Female infertility") +AnnotationAssertion(Annotation( ) "Female infertility") AnnotationAssertion( "HP:0008222") AnnotationAssertion(rdfs:label "Female infertility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -84480,7 +84473,7 @@ SubClassOf( "An reduced concentration of progesterone in the blood.") AnnotationAssertion( "UMLS:C1858995") -AnnotationAssertion(Annotation( ) "Decreased serum progesterone") +AnnotationAssertion(Annotation( ) "Decreased serum progesterone") AnnotationAssertion( "HP:0008233") AnnotationAssertion(rdfs:comment "Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle.") AnnotationAssertion(rdfs:label "Decreased circulating progesterone") @@ -84553,7 +84546,7 @@ AnnotationAssertion(Annotation( "HP:0008248") AnnotationAssertion( "SNOMEDCT_US:82598004") AnnotationAssertion( "UMLS:C3665349") -AnnotationAssertion(Annotation( ) Annotation( ) "Low thyroid gland function due to abnormal pituitary gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Low thyroid gland function due to abnormal pituitary gland") AnnotationAssertion( "Secondary hypothyroidism") AnnotationAssertion( "TSH deficient hypothyroidism") AnnotationAssertion( "Thyroid stimulating hormone deficiency") @@ -84579,7 +84572,7 @@ SubClassOf( ) "Hyperplasia of the thyroid gland.") AnnotationAssertion( "UMLS:C1112776") -AnnotationAssertion(Annotation( ) Annotation( ) "Large thyroid") +AnnotationAssertion(Annotation( ) Annotation( ) "Large thyroid") AnnotationAssertion( "HP:0008249") AnnotationAssertion(rdfs:label "Thyroid hyperplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -84773,7 +84766,7 @@ SubClassOf( ) "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.") AnnotationAssertion( "UMLS:C1864954") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood insulin levels while fasting") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood insulin levels while fasting") AnnotationAssertion( "HP:0008283") AnnotationAssertion(rdfs:label "Fasting hyperinsulinemia") SubClassOf( ) @@ -84976,8 +84969,8 @@ AnnotationAssertion( "MSH:D026681") AnnotationAssertion( "SNOMEDCT_US:386080007") AnnotationAssertion( "UMLS:C0936215") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced vitamin b6 levels") -AnnotationAssertion(Annotation( ) "Vitamin B6 deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced vitamin b6 levels") +AnnotationAssertion(Annotation( ) "Vitamin B6 deficiency") AnnotationAssertion( "HP:0008326") AnnotationAssertion(rdfs:label "Reduced circulating vitamin B6 level") SubClassOf( ) @@ -85191,8 +85184,8 @@ AnnotationAssertion( "HP:0008118") AnnotationAssertion( "HP:0008126") AnnotationAssertion( "UMLS:C1836213") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small big toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped big toe") AnnotationAssertion( "Aplastic/hypoplastic halluces") AnnotationAssertion( "HP:0008362") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the hallux") @@ -85207,8 +85200,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-04T11:35:00Z") AnnotationAssertion( "HP:0008109") AnnotationAssertion( "UMLS:C1848671") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ankle bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ankle bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ankle bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ankle bone") AnnotationAssertion( "Aplastic/hypoplastic tarsals") AnnotationAssertion( "HP:0008363") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the tarsal bones") @@ -85222,7 +85215,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T11:38:00Z") AnnotationAssertion( "UMLS:C4024689") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal heel bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal heel bone") AnnotationAssertion( "HP:0008364") AnnotationAssertion(rdfs:label "Abnormality of the calcaneus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85234,7 +85227,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T11:43:00Z") AnnotationAssertion( "UMLS:C4024688") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal large bone of ankle") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal large bone of ankle") AnnotationAssertion( "HP:0008365") AnnotationAssertion(rdfs:label "Abnormal talus morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85249,7 +85242,7 @@ AnnotationAssertion( "SNOMEDCT_US:239742004") AnnotationAssertion( "UMLS:C0343149") AnnotationAssertion( "Contractures involving the joints of the feet") -AnnotationAssertion(Annotation( ) Annotation( ) "Contractures of the foot joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Contractures of the foot joints") AnnotationAssertion( "Joint contractures involving the joints of the feet") AnnotationAssertion( "HP:0008366") AnnotationAssertion(rdfs:label "Foot joint contracture") @@ -85269,7 +85262,7 @@ AnnotationAssertion( "MSH:D000070604") AnnotationAssertion( "SNOMEDCT_US:27173008") AnnotationAssertion( "UMLS:C0265654") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused ankle bones") AnnotationAssertion( "Synostosis involving tarsal bones") AnnotationAssertion( "Synostosis of tarsal bones") AnnotationAssertion( "Tarsal bone fusion") @@ -85291,8 +85284,8 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021544") AnnotationAssertion( "UMLS:C4025075") AnnotationAssertion( "Abnormal ossification of tarsal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of ankle bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of ankle bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of ankle bones") AnnotationAssertion( "HP:0008369") AnnotationAssertion(rdfs:label "Abnormal tarsal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -85306,7 +85299,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-04T11:59:00Z") AnnotationAssertion( "UMLS:C4021543") AnnotationAssertion( "Abnormal ossification involving metatarsal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of long bone of foot") AnnotationAssertion( "HP:0008371") AnnotationAssertion(rdfs:label "Abnormal metatarsal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -85330,7 +85323,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-04T12:35:00Z") AnnotationAssertion( "HP:0000827") AnnotationAssertion( "UMLS:C4024685") -AnnotationAssertion(Annotation( ) "Puberty and gonadal disorders") +AnnotationAssertion(Annotation( ) "Puberty and gonadal disorders") AnnotationAssertion( "HP:0008373") AnnotationAssertion(rdfs:label "Puberty and gonadal disorders") SubClassOf( ) @@ -85338,7 +85331,7 @@ SubClassOf( (Nasal, dysarthic speech) AnnotationAssertion( "UMLS:C1834664") -AnnotationAssertion(Annotation( ) Annotation( ) "Breathy speech") +AnnotationAssertion(Annotation( ) Annotation( ) "Breathy speech") AnnotationAssertion( "HP:0008376") AnnotationAssertion(rdfs:label "Nasal, dysarthic speech") SubClassOf( ) @@ -85348,7 +85341,7 @@ SubClassOf( ) "Nails whose growth is slower than normal.") AnnotationAssertion( "HP:0008411") AnnotationAssertion( "UMLS:C1835238") -AnnotationAssertion(Annotation( ) "Slow-growing nails") +AnnotationAssertion(Annotation( ) "Slow-growing nails") AnnotationAssertion( "HP:0008383") AnnotationAssertion(rdfs:label "Slow-growing nails") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -85360,8 +85353,8 @@ AnnotationAssertion(Annotation( "HP:0008385") AnnotationAssertion( "UMLS:C1859077") AnnotationAssertion( "Absent/hypoplastic nails") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small nails") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped nails") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small nails") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped nails") AnnotationAssertion( "Nail aplasia/hypoplasia") AnnotationAssertion( "HP:0008386") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the nails") @@ -85373,8 +85366,8 @@ SubClassOf( ) "An anomaly of the toenail.") AnnotationAssertion( "SNOMEDCT_US:700189007") AnnotationAssertion( "UMLS:C3839753") -AnnotationAssertion(Annotation( ) "Abnormality of the toenail") -AnnotationAssertion(Annotation( ) "Abnormality of the toenails") +AnnotationAssertion(Annotation( ) "Abnormality of the toenail") +AnnotationAssertion(Annotation( ) "Abnormality of the toenails") AnnotationAssertion( "HP:0008388") AnnotationAssertion(rdfs:label "Abnormal toenail morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85384,8 +85377,8 @@ SubClassOf( ) "Repeated loss, or shedding, of the nails of the fingers and toes.") AnnotationAssertion( "UMLS:C4021542") -AnnotationAssertion(Annotation( ) "Recurrent loss of toenails and fingernails") -AnnotationAssertion(Annotation( ) "Recurrent shedding of toenails and fingernails") +AnnotationAssertion(Annotation( ) "Recurrent loss of toenails and fingernails") +AnnotationAssertion(Annotation( ) "Recurrent shedding of toenails and fingernails") AnnotationAssertion( "HP:0008390") AnnotationAssertion(rdfs:label "Recurrent loss of toenails and fingernails") SubClassOf( ) @@ -85394,7 +85387,7 @@ SubClassOf( ) "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.") AnnotationAssertion( "UMLS:C3551426") -AnnotationAssertion(Annotation( ) Annotation( "http://naildystrophy.com/") Annotation( ) "Poor fingernail formation") +AnnotationAssertion(Annotation( ) Annotation( "http://naildystrophy.com/") Annotation( ) "Poor fingernail formation") AnnotationAssertion( "HP:0008391") AnnotationAssertion(rdfs:label "Dystrophic fingernails") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85406,7 +85399,7 @@ SubClassOf( ) "A thickening of the stratum corneum in the region beneath the nails.") AnnotationAssertion( "SNOMEDCT_US:10165000") AnnotationAssertion( "UMLS:C0038605") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickened, discolored skin under nail") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickened, discolored skin under nail") AnnotationAssertion(Annotation( ) "Thickened, discoloured skin under nail") AnnotationAssertion( "HP:0008392") AnnotationAssertion(rdfs:label "Subungual hyperkeratosis") @@ -85422,7 +85415,7 @@ SubClassOf( (Congenital onychodystrophy) -AnnotationAssertion(Annotation( ) Annotation( ) "Congenital malformed nails") +AnnotationAssertion(Annotation( ) Annotation( ) "Congenital malformed nails") AnnotationAssertion( "UMLS:C1393669") AnnotationAssertion( "UMLS:C4280413") AnnotationAssertion( "HP:0008394") @@ -85442,10 +85435,10 @@ SubClassOf( ) "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.") AnnotationAssertion( "HP:0200103") AnnotationAssertion( "UMLS:C4024682") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fifth fingernail") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fifth fingernail") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fingernail of pinky finger") AnnotationAssertion( "HP:0008398") AnnotationAssertion(rdfs:label "Hypoplastic fifth fingernail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85455,7 +85448,7 @@ SubClassOf( ) "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.") AnnotationAssertion( "UMLS:C4024681") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick skin around nails") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick skin around nails") AnnotationAssertion( "HP:0008399") AnnotationAssertion(rdfs:label "Circumungual hyperkeratosis") SubClassOf( ) @@ -85465,7 +85458,7 @@ SubClassOf( ) "Detachment of the distal fingernails from the nail bed.") AnnotationAssertion( "UMLS:C4024680") -AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of outermost fingernails") +AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of outermost fingernails") AnnotationAssertion( "HP:0008400") AnnotationAssertion(rdfs:label "Onycholysis of distal fingernails") SubClassOf( ) @@ -85476,7 +85469,7 @@ AnnotationAssertion(Annotation( "HP:0008395") AnnotationAssertion( "HP:0008405") AnnotationAssertion( "UMLS:C4024679") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth and curving of toenails") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth and curving of toenails") AnnotationAssertion( "HP:0008401") AnnotationAssertion(rdfs:label "Onychogryposis of toenails") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85486,9 +85479,9 @@ SubClassOf( ) Annotation( "PMID:19125433") "Longitudinal, linear prominences in the fingernail plate.") AnnotationAssertion( "UMLS:C1849392") -AnnotationAssertion(Annotation( ) "Longitudinally grooved fingernails") -AnnotationAssertion(Annotation( ) "Ridged fingernail") -AnnotationAssertion(Annotation( ) Annotation( ) "Ridged fingernails") +AnnotationAssertion(Annotation( ) "Longitudinally grooved fingernails") +AnnotationAssertion(Annotation( ) "Ridged fingernail") +AnnotationAssertion(Annotation( ) Annotation( ) "Ridged fingernails") AnnotationAssertion( "HP:0008402") AnnotationAssertion(rdfs:label "Ridged fingernail") SubClassOf( ) @@ -85504,7 +85497,7 @@ AnnotationAssertion( "UMLS:C0221260") AnnotationAssertion( "Dystrophic nails") AnnotationAssertion( "Onychodystrophy") -AnnotationAssertion(Annotation( ) Annotation( "http://naildystrophy.com/") Annotation( ) "Poor nail formation") +AnnotationAssertion(Annotation( ) Annotation( "http://naildystrophy.com/") Annotation( ) "Poor nail formation") AnnotationAssertion( "HP:0008404") AnnotationAssertion(rdfs:comment "Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use.") AnnotationAssertion(rdfs:label "Nail dystrophy") @@ -85514,7 +85507,7 @@ SubClassOf( (Hyperconvex thumb nails) AnnotationAssertion( "UMLS:C1855290") -AnnotationAssertion(Annotation( ) Annotation( ) "Tightly curved thumb nail") +AnnotationAssertion(Annotation( ) Annotation( ) "Tightly curved thumb nail") AnnotationAssertion( "HP:0008407") AnnotationAssertion(rdfs:label "Hyperconvex thumb nails") SubClassOf( ) @@ -85530,8 +85523,8 @@ SubClassOf( (Lumbar kyphosis in infancy) AnnotationAssertion( "UMLS:C1863423") -AnnotationAssertion(Annotation( ) Annotation( ) "Hunched back in infancy") -AnnotationAssertion(Annotation( ) Annotation( ) "Round back in infancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Hunched back in infancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Round back in infancy") AnnotationAssertion( "HP:0008414") AnnotationAssertion(rdfs:label "Lumbar kyphosis in infancy") SubClassOf( ) @@ -85549,7 +85542,7 @@ AnnotationAssertion(Annotation( "HP:0008431") AnnotationAssertion( "SNOMEDCT_US:205456006") AnnotationAssertion( "UMLS:C0345394") -AnnotationAssertion(Annotation( ) "Underdeveloped vertebrae") +AnnotationAssertion(Annotation( ) "Underdeveloped vertebrae") AnnotationAssertion( "HP:0008417") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Vertebral hypoplasia") @@ -85600,7 +85593,7 @@ SubClassOf( ) "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.") AnnotationAssertion( "UMLS:C1695776") -AnnotationAssertion(Annotation( ) "Wedge-shaped vertebrae") +AnnotationAssertion(Annotation( ) "Wedge-shaped vertebrae") AnnotationAssertion( "Wedged vertebrae") AnnotationAssertion( "anterior wedging") AnnotationAssertion( "HP:0008422") @@ -85620,7 +85613,7 @@ SubClassOf( (Hypoplastic 5th lumbar vertebrae) AnnotationAssertion( "UMLS:C1859366") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped 5th lumbar vertebrae") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped 5th lumbar vertebrae") AnnotationAssertion( "HP:0008424") AnnotationAssertion(rdfs:label "Hypoplastic 5th lumbar vertebrae") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85693,8 +85686,8 @@ SubClassOf( (Absent/hypoplastic coccyx) AnnotationAssertion( "UMLS:C1856644") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small tailbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped tailbone") AnnotationAssertion( "HP:0008436") AnnotationAssertion(rdfs:label "Absent/hypoplastic coccyx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85743,7 +85736,7 @@ SubClassOf( ) "The presence of one or more herniated nucleus pulposus of intervertebral disk.") AnnotationAssertion(Annotation( ) "Herniated disc") -AnnotationAssertion(Annotation( ) Annotation( ) "Herniated disk") +AnnotationAssertion(Annotation( ) Annotation( ) "Herniated disk") AnnotationAssertion( "MSH:D007405") AnnotationAssertion( "SNOMEDCT_US:73589001") AnnotationAssertion( "UMLS:C0021818") @@ -85857,7 +85850,7 @@ AnnotationAssertion(Annotation( "HP:0008487") AnnotationAssertion( "UMLS:C1844818") AnnotationAssertion( "Lumbar gibbus deformity") -AnnotationAssertion(Annotation( ) Annotation( ) "Rounded lower back") +AnnotationAssertion(Annotation( ) Annotation( ) "Rounded lower back") AnnotationAssertion( "HP:0008454") AnnotationAssertion(rdfs:label "Lumbar kyphosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85867,7 +85860,7 @@ SubClassOf( "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.") AnnotationAssertion( "UMLS:C1851305") -AnnotationAssertion(Annotation( ) "Absence of some of the sacral and coccygeal bones") +AnnotationAssertion(Annotation( ) "Absence of some of the sacral and coccygeal bones") AnnotationAssertion( "Partial sacral agenesis") AnnotationAssertion( "Sacral dysgenesis") AnnotationAssertion( "HP:0008455") @@ -85916,7 +85909,7 @@ SubClassOf( (Hypoplastic spinal processes) AnnotationAssertion( "UMLS:C4024674") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped spinal processes") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped spinal processes") AnnotationAssertion( "HP:0008460") AnnotationAssertion(rdfs:label "Hypoplastic spinal processes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -85957,7 +85950,7 @@ SubClassOf( "PMID:26167231") "A developmental defect characterized by agenesis of one or more vertebral bodies.") AnnotationAssertion( "SNOMEDCT_US:15843004") AnnotationAssertion( "UMLS:C0158776") -AnnotationAssertion(Annotation( ) "Absent vertebrae") +AnnotationAssertion(Annotation( ) "Absent vertebrae") AnnotationAssertion( "HP:0008465") AnnotationAssertion(rdfs:label "Absent vertebra") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86005,10 +85998,10 @@ SubClassOf( (Prominent protruding coccyx) -AnnotationAssertion(Annotation( ) Annotation( ) "Large tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Large tailbone") AnnotationAssertion( "UMLS:C1850044") AnnotationAssertion( "UMLS:C4280412") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent protruding tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent protruding tailbone") AnnotationAssertion( "HP:0008472") AnnotationAssertion(rdfs:label "Prominent protruding coccyx") SubClassOf( ) @@ -86067,7 +86060,7 @@ AnnotationAssertion( "UMLS:C1863353") AnnotationAssertion( "Small vertebrae") AnnotationAssertion( "Small vertebral bodies") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped back bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped back bones") AnnotationAssertion( "HP:0008479") AnnotationAssertion(rdfs:label "Hypoplastic vertebral bodies") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86084,8 +86077,8 @@ AnnotationAssertion( "UMLS:C0263854") AnnotationAssertion( "UMLS:C1384641") AnnotationAssertion(Annotation( ) "Cervical osteoarthritis") -AnnotationAssertion(Annotation( ) "Cervical spine degeneration") -AnnotationAssertion(Annotation( ) Annotation( ) "Neck arthritis") +AnnotationAssertion(Annotation( ) "Cervical spine degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Neck arthritis") AnnotationAssertion( "HP:0008480") AnnotationAssertion(rdfs:comment "When osteoarthritis affects the spine, it is known as spondylosis.") AnnotationAssertion(rdfs:label "Cervical spondylosis") @@ -86173,10 +86166,10 @@ SubClassOf( "SNOMEDCT_US:95339000") AnnotationAssertion( "UMLS:C0423848") AnnotationAssertion( "UMLS:C3550336") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra rows of eyelashes") -AnnotationAssertion(Annotation( ) "Multiple rows of eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Double row of eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Two rows of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra rows of eyelashes") +AnnotationAssertion(Annotation( ) "Multiple rows of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Double row of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Two rows of eyelashes") AnnotationAssertion( "HP:0008496") AnnotationAssertion(rdfs:label "Multiple rows of eyelashes") SubClassOf( ) @@ -86191,9 +86184,9 @@ SubClassOf( (No permanent dentition) AnnotationAssertion( "UMLS:C4024666") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of adult teeth") AnnotationAssertion(Annotation( ) "Absence of secondary dentition") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult teeth") AnnotationAssertion(Annotation( ) "No adult dentition") AnnotationAssertion(Annotation( ) "No secondary dentition") AnnotationAssertion( "HP:0008498") @@ -86206,8 +86199,8 @@ AnnotationAssertion(Annotation( "UMLS:C4024665") AnnotationAssertion( "High hyperopia") AnnotationAssertion( "High-grade hypermetropia") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe farsightedness") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe long-sightedness") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe farsightedness") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe long-sightedness") AnnotationAssertion( "HP:0008499") AnnotationAssertion(rdfs:label "High hypermetropia") SubClassOf( ) @@ -86217,9 +86210,9 @@ SubClassOf( ) "Cleft lip or palate affecting the midline region of the palate.") AnnotationAssertion( "HP:0009089") AnnotationAssertion( "UMLS:C2750604") -AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft lip and palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft lip and palate") AnnotationAssertion( "Medial cleft lip and palate") -AnnotationAssertion(Annotation( ) "Midline cleft lip/palate") +AnnotationAssertion(Annotation( ) "Midline cleft lip/palate") AnnotationAssertion( "Wide midline cleft lip/palate") AnnotationAssertion( "HP:0008501") AnnotationAssertion(rdfs:label "Median cleft lip and palate") @@ -86280,8 +86273,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-04T02:30:00Z") AnnotationAssertion( "UMLS:C4024662") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small vertebrae") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped vertebrae") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small vertebrae") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped vertebrae") AnnotationAssertion( "HP:0008515") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the vertebrae") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86304,8 +86297,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T02:32:00Z") AnnotationAssertion( "UMLS:C4024660") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small sacrum") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped sacrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small sacrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped sacrum") AnnotationAssertion( "HP:0008517") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the sacrum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86317,12 +86310,12 @@ SubClassOf( ) AnnotationAssertion( "2008-04-04T02:33:00Z") AnnotationAssertion( "UMLS:C4024659") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small backbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small spine") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small vertebral column") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped backbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped spine") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped vertebral column") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small backbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small spine") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small vertebral column") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped backbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped spine") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped vertebral column") AnnotationAssertion( "HP:0008518") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the vertebral column") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86336,7 +86329,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-04T02:41:00Z") AnnotationAssertion( "HP:0002830") AnnotationAssertion( "UMLS:C4024658") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal tailbone") AnnotationAssertion( "Abnormality of the coccyx") AnnotationAssertion( "HP:0008519") AnnotationAssertion(rdfs:label "Abnormal coccyx morphology") @@ -86351,7 +86344,7 @@ AnnotationAssertion( "Ear, posterior helical groove") AnnotationAssertion( "Ear, posterior helical notch") AnnotationAssertion( "Helix, posterior pit") -AnnotationAssertion(Annotation( ) Annotation( ) "Indentation in back of outer ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Indentation in back of outer ear") AnnotationAssertion( "Pits in posterior aspect of ear helices") AnnotationAssertion( "HP:0008523") AnnotationAssertion( ) @@ -86391,11 +86384,11 @@ SubClassOf( (Long hairs growing from helix of pinna) -AnnotationAssertion(Annotation( ) Annotation( ) "Ear hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Ear hair") AnnotationAssertion( "SNOMEDCT_US:27394002") AnnotationAssertion( "UMLS:C0222050") AnnotationAssertion( "UMLS:C4024657") -AnnotationAssertion(Annotation( ) Annotation( ) "Long hairs growing from helix of ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Long hairs growing from helix of ear") AnnotationAssertion( "HP:0008528") AnnotationAssertion(rdfs:label "Long hairs growing from helix of pinna") SubClassOf( ) @@ -86424,7 +86417,7 @@ SubClassOf( (Superiorly displaced ears) AnnotationAssertion( "UMLS:C1850190") -AnnotationAssertion(Annotation( ) Annotation( ) "High set ears") +AnnotationAssertion(Annotation( ) Annotation( ) "High set ears") AnnotationAssertion( "HP:0008541") AnnotationAssertion(rdfs:label "Superiorly displaced ears") SubClassOf( ) @@ -86434,7 +86427,7 @@ SubClassOf( ) "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).") AnnotationAssertion( "SNOMEDCT_US:42538001") AnnotationAssertion( "UMLS:C0271514") -AnnotationAssertion(Annotation( ) "Low-frequency hearing loss") +AnnotationAssertion(Annotation( ) "Low-frequency hearing loss") AnnotationAssertion( "HP:0008542") AnnotationAssertion(rdfs:label "Low-frequency hearing loss") SubClassOf( ) @@ -86463,9 +86456,9 @@ AnnotationAssertion( "Hypoplasia of the external ear") AnnotationAssertion( "Hypoplastic ears") AnnotationAssertion( "Hypoplastic pinna") -AnnotationAssertion(Annotation( ) "Small ears") +AnnotationAssertion(Annotation( ) "Small ears") AnnotationAssertion( "Small pinnae") -AnnotationAssertion(Annotation( ) "Underdeveloped ears") +AnnotationAssertion(Annotation( ) "Underdeveloped ears") AnnotationAssertion( "HP:0008551") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.") @@ -86523,13 +86516,13 @@ AnnotationAssertion( "UMLS:C4020795") AnnotationAssertion( "UMLS:C4020796") AnnotationAssertion( "UMLS:C4020797") -AnnotationAssertion(Annotation( ) "Cockleshell ear") +AnnotationAssertion(Annotation( ) "Cockleshell ear") AnnotationAssertion( "Constricted helix type IV") AnnotationAssertion( "Ear, grade II dysplasia") -AnnotationAssertion(Annotation( ) "Mini ear") +AnnotationAssertion(Annotation( ) "Mini ear") AnnotationAssertion( "Severe cupped ear, type III") -AnnotationAssertion(Annotation( ) "Shell ear") -AnnotationAssertion(Annotation( ) "Snail ear") +AnnotationAssertion(Annotation( ) "Shell ear") +AnnotationAssertion(Annotation( ) "Snail ear") AnnotationAssertion( "HP:0008569") AnnotationAssertion(rdfs:label "Microtia, second degree") SubClassOf( ) @@ -86539,7 +86532,7 @@ SubClassOf( ) "A malformation of the auricle of the ear.") AnnotationAssertion( "HP:0008594") AnnotationAssertion( "UMLS:C1846460") -AnnotationAssertion(Annotation( ) "External ear malformation") +AnnotationAssertion(Annotation( ) "External ear malformation") AnnotationAssertion( "HP:0008572") AnnotationAssertion(rdfs:label "External ear malformation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86658,7 +86651,7 @@ SubClassOf( (Unilateral external ear deformity) AnnotationAssertion( "UMLS:C1834043") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformed external ear on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformed external ear on one side") AnnotationAssertion( "HP:0008605") AnnotationAssertion(rdfs:label "Unilateral external ear deformity") SubClassOf( ) @@ -86667,7 +86660,7 @@ SubClassOf( ) "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.") AnnotationAssertion( "UMLS:C1862059") -AnnotationAssertion(Annotation( ) Annotation( ) "Pit above the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Pit above the ear") AnnotationAssertion(Annotation( ) "Supraauricular fistula") AnnotationAssertion( "Supraauricular sinus") AnnotationAssertion( "Supraauricular sinuses") @@ -86697,8 +86690,8 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_mbitner-glidicz") "An abnormality of the morphology or structure of the middle ear.") AnnotationAssertion( "UMLS:C1857456") -AnnotationAssertion(Annotation( ) "Middle ear malformation") -AnnotationAssertion(Annotation( ) "Morphological abnormality of the middle ear") +AnnotationAssertion(Annotation( ) "Middle ear malformation") +AnnotationAssertion(Annotation( ) "Morphological abnormality of the middle ear") AnnotationAssertion( "HP:0008609") AnnotationAssertion(rdfs:label "Morphological abnormality of the middle ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86819,7 +86812,7 @@ SubClassOf( (Gonadal hypoplasia) AnnotationAssertion( "UMLS:C0239761") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped gonad") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped gonad") AnnotationAssertion( "HP:0008639") AnnotationAssertion(rdfs:label "Gonadal hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86888,8 +86881,8 @@ SubClassOf( ) "Aplasia or developmental hypoplasia of the fallopian tube.") AnnotationAssertion( "UMLS:C4020791") AnnotationAssertion( "UMLS:C4024646") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small fallopian tube") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped fallopian tube") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small fallopian tube") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped fallopian tube") AnnotationAssertion( "Absent or rudimentary fallopian tubes") AnnotationAssertion( "HP:0008655") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the fallopian tube") @@ -86939,7 +86932,7 @@ AnnotationAssertion( "SNOMEDCT_US:236647003") AnnotationAssertion( "SNOMEDCT_US:76618002") AnnotationAssertion( "UMLS:C0041974") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the urethra") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the urethra") AnnotationAssertion( "HP:0008661") AnnotationAssertion(rdfs:label "Urethral stenosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -86972,7 +86965,7 @@ AnnotationAssertion( "UMLS:C0156394") AnnotationAssertion( "Clitoral enlargement") AnnotationAssertion( "Clitoromegaly") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged clitoris") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged clitoris") AnnotationAssertion( "Hypertrophic clitoris") AnnotationAssertion( "Prominent clitoris") AnnotationAssertion( "HP:0008665") @@ -87005,7 +86998,7 @@ AnnotationAssertion( "UMLS:C0520933") AnnotationAssertion( "UMLS:C4020789") AnnotationAssertion( "Impaired spermatogenesis") -AnnotationAssertion(Annotation( ) "Abnormal sperm development") +AnnotationAssertion(Annotation( ) "Abnormal sperm development") AnnotationAssertion( "HP:0008669") AnnotationAssertion(rdfs:label "Abnormal spermatogenesis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87043,7 +87036,7 @@ SubClassOf( (Enlarged polycystic ovaries) AnnotationAssertion( "UMLS:C4024641") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged ovaries with cysts") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged ovaries with cysts") AnnotationAssertion( "HP:0008675") AnnotationAssertion(rdfs:label "Enlarged polycystic ovaries") SubClassOf( ) @@ -87078,8 +87071,8 @@ AnnotationAssertion(Annotation( "HP:0004744") AnnotationAssertion( "HP:0008701") AnnotationAssertion( "UMLS:C1857453") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small kidney") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped kidney") AnnotationAssertion( "Renal agenesis/hypoplasia") AnnotationAssertion( "Renal aplasia/hypoplasia") AnnotationAssertion( "HP:0008678") @@ -87120,8 +87113,8 @@ SubClassOf( ) "Absence or developmental hypoplasia of the uterus.") AnnotationAssertion( "UMLS:C4024640") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small uterus") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small uterus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped uterus") AnnotationAssertion( "HP:0008684") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the uterus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87131,7 +87124,7 @@ SubClassOf( "UMLS:C1844923") AnnotationAssertion( "Hypoplastic prostate") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped prostate") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped prostate") AnnotationAssertion( "HP:0008687") AnnotationAssertion(rdfs:label "Hypoplasia of the prostate") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87187,7 +87180,7 @@ SubClassOf( ) "Developmental hypoplasia of the fallopian tube.") AnnotationAssertion( "UMLS:C1968706") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fallopian tube") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fallopian tube") AnnotationAssertion( "Rudimentary fallopian tubes") AnnotationAssertion( "HP:0008697") AnnotationAssertion(rdfs:label "Hypoplasia of the fallopian tube") @@ -87231,7 +87224,7 @@ SubClassOf( ) "Congenital absence of the scrotum.") AnnotationAssertion( "SNOMEDCT_US:249233008") AnnotationAssertion( "UMLS:C0426320") -AnnotationAssertion(Annotation( ) "Absent scrotum") +AnnotationAssertion(Annotation( ) "Absent scrotum") AnnotationAssertion( "HP:0008707") AnnotationAssertion(rdfs:comment "Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately.") AnnotationAssertion(rdfs:label "Absent scrotum") @@ -87290,8 +87283,8 @@ SubClassOf( ) "A unilateral form of atrophy of the kidney.") AnnotationAssertion( "SNOMEDCT_US:424998002") AnnotationAssertion( "UMLS:C1827184") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney degeneration on one side") -AnnotationAssertion(Annotation( ) Annotation( ) "Unilateral kidney wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney degeneration on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Unilateral kidney wasting") AnnotationAssertion( "HP:0008717") AnnotationAssertion(rdfs:label "Unilateral renal atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87342,7 +87335,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:93279005") AnnotationAssertion( "UMLS:C0685840") AnnotationAssertion( "UMLS:C1835452") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped ovary") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped ovary") AnnotationAssertion( "Hypoplastic ovary") AnnotationAssertion( "HP:0008724") AnnotationAssertion(rdfs:label "Hypoplasia of the ovary") @@ -87357,7 +87350,7 @@ AnnotationAssertion( "UMLS:C0345309") AnnotationAssertion( "UMLS:C1442988") AnnotationAssertion( "Rudimentary vagina") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped vagina") AnnotationAssertion( "Hypoplastic vagina") AnnotationAssertion( "HP:0008726") AnnotationAssertion(rdfs:label "Hypoplasia of the vagina") @@ -87367,7 +87360,7 @@ SubClassOf( (Absence of labia majora) AnnotationAssertion( "UMLS:C1849575") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent vaginal lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent vaginal lips") AnnotationAssertion( "HP:0008729") AnnotationAssertion(rdfs:label "Absence of labia majora") SubClassOf( ) @@ -87404,10 +87397,10 @@ AnnotationAssertion(Annotation( "HP:0000043") AnnotationAssertion( "SNOMEDCT_US:276411001") AnnotationAssertion( "UMLS:C0241355") -AnnotationAssertion(Annotation( ) "Decreased testicular size") +AnnotationAssertion(Annotation( ) "Decreased testicular size") AnnotationAssertion( "Hypoplastic testes") -AnnotationAssertion(Annotation( ) "Small testes") -AnnotationAssertion(Annotation( ) "Small testis") +AnnotationAssertion(Annotation( ) "Small testes") +AnnotationAssertion(Annotation( ) "Small testis") AnnotationAssertion( "Testicular hypoplasia") AnnotationAssertion( "HP:0008734") AnnotationAssertion(rdfs:label "Decreased testicular size") @@ -87420,7 +87413,7 @@ SubClassOf( "HP:0008632") AnnotationAssertion( "SNOMEDCT_US:34911001") AnnotationAssertion( "UMLS:C0266435") -AnnotationAssertion(Annotation( ) "Underdeveloped penis") +AnnotationAssertion(Annotation( ) "Underdeveloped penis") AnnotationAssertion( "HP:0008736") AnnotationAssertion(rdfs:label "Hypoplasia of penis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87431,7 +87424,7 @@ SubClassOf( ) "The presence of a partially duplicated kidney.") AnnotationAssertion( "UMLS:C4024630") -AnnotationAssertion(Annotation( ) "Partially duplicated kidney") +AnnotationAssertion(Annotation( ) "Partially duplicated kidney") AnnotationAssertion( "HP:0008738") AnnotationAssertion(rdfs:label "Partially duplicated kidney") SubClassOf( ) @@ -87598,7 +87591,7 @@ SubClassOf( "SNOMEDCT_US:248004009") AnnotationAssertion( "UMLS:C0424323") -AnnotationAssertion(Annotation( ) "Violent behavior") +AnnotationAssertion(Annotation( ) "Violent behavior") AnnotationAssertion(Annotation( ) "Violent behaviour") AnnotationAssertion( "HP:0008760") AnnotationAssertion(rdfs:label "Violent behavior") @@ -87608,7 +87601,7 @@ SubClassOf( (Repetitive compulsive behavior) AnnotationAssertion( "UMLS:C1969697") -AnnotationAssertion(Annotation( ) "Repetitive compulsive behavior") +AnnotationAssertion(Annotation( ) "Repetitive compulsive behavior") AnnotationAssertion(Annotation( ) "Repetitive compulsive behaviour") AnnotationAssertion( "HP:0008762") AnnotationAssertion(rdfs:label "Repetitive compulsive behavior") @@ -87617,7 +87610,7 @@ SubClassOf( (No social interaction) AnnotationAssertion( "UMLS:C1849683") -AnnotationAssertion(Annotation( ) "No social interaction") +AnnotationAssertion(Annotation( ) "No social interaction") AnnotationAssertion( "HP:0008763") AnnotationAssertion(rdfs:label "No social interaction") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87630,8 +87623,8 @@ AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:45150006") AnnotationAssertion( "UMLS:C0233762") -AnnotationAssertion(Annotation( ) Annotation( ) "Hallucinations of sound") -AnnotationAssertion(Annotation( ) "Hearing sounds") +AnnotationAssertion(Annotation( ) Annotation( ) "Hallucinations of sound") +AnnotationAssertion(Annotation( ) "Hearing sounds") AnnotationAssertion( "HP:0008765") AnnotationAssertion(rdfs:label "Auditory hallucinations") SubClassOf( ) @@ -87639,7 +87632,7 @@ SubClassOf( (Self-mutilation of tongue and lips due to involuntary movements) AnnotationAssertion( "UMLS:C1860219") -AnnotationAssertion(Annotation( ) "Self-mutilation of tongue and lips due to involuntary movements") +AnnotationAssertion(Annotation( ) "Self-mutilation of tongue and lips due to involuntary movements") AnnotationAssertion( "HP:0008767") AnnotationAssertion(rdfs:label "Self-mutilation of tongue and lips due to involuntary movements") SubClassOf( ) @@ -87649,7 +87642,7 @@ SubClassOf( "SNOMEDCT_US:248099006") AnnotationAssertion( "UMLS:C0474420") -AnnotationAssertion(Annotation( ) "Inappropriate sexual behavior") +AnnotationAssertion(Annotation( ) "Inappropriate sexual behavior") AnnotationAssertion(Annotation( ) "Inappropriate sexual behaviour") AnnotationAssertion( "HP:0008768") AnnotationAssertion(rdfs:label "Inappropriate sexual behavior") @@ -87661,8 +87654,8 @@ SubClassOf( ) "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.") AnnotationAssertion( "HP:0008761") AnnotationAssertion( "UMLS:C1834433") -AnnotationAssertion(Annotation( ) "Obsessive-compulsive trait") -AnnotationAssertion(Annotation( ) "Obsessive-compulsive traits") +AnnotationAssertion(Annotation( ) "Obsessive-compulsive trait") +AnnotationAssertion(Annotation( ) "Obsessive-compulsive traits") AnnotationAssertion( "HP:0008770") AnnotationAssertion(rdfs:label "Obsessive-compulsive trait") SubClassOf( ) @@ -87673,8 +87666,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T05:44:00Z") AnnotationAssertion( "UMLS:C4024627") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ear") AnnotationAssertion( "HP:0008771") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87686,8 +87679,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T05:45:00Z") AnnotationAssertion( "UMLS:C4024626") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small external ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped external ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small external ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped external ear") AnnotationAssertion( "HP:0008772") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the external ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87702,8 +87695,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008533") AnnotationAssertion( "HP:0008548") AnnotationAssertion( "UMLS:C4021529") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle ear") AnnotationAssertion( "Hypoplastic/aplastic middle ear structures") AnnotationAssertion( "Middle ear hypoplasia/aplasia") AnnotationAssertion( "HP:0008773") @@ -87718,8 +87711,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T05:48:00Z") AnnotationAssertion( "UMLS:C4024625") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small inner ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped inner ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small inner ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped inner ear") AnnotationAssertion( "HP:0008774") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the inner ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87732,7 +87725,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T06:01:00Z") AnnotationAssertion( "UMLS:C0747987") -AnnotationAssertion(Annotation( ) "Abnormality of the prostate") +AnnotationAssertion(Annotation( ) "Abnormality of the prostate") AnnotationAssertion( "HP:0008775") AnnotationAssertion(rdfs:label "Abnormal prostate morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87744,7 +87737,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T06:13:00Z") AnnotationAssertion( "UMLS:C4024624") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kidney artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kidney artery") AnnotationAssertion( "Abnormality of the renal artery") AnnotationAssertion( "HP:0008776") AnnotationAssertion(rdfs:label "Abnormal renal artery morphology") @@ -87758,7 +87751,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-04T06:18:00Z") AnnotationAssertion( "UMLS:C0262665") -AnnotationAssertion(Annotation( ) "Abnormality of the vocal cords") +AnnotationAssertion(Annotation( ) "Abnormality of the vocal cords") AnnotationAssertion( "HP:0008777") AnnotationAssertion(rdfs:comment "The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx.") AnnotationAssertion(rdfs:label "Abnormal vocal cord morphology") @@ -87779,7 +87772,7 @@ SubClassOf( ) "Increased width of the proximal part of the shaft (metaphysis) of the femur.") AnnotationAssertion( "HP:0008790") AnnotationAssertion( "UMLS:C4024623") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide metaphysis of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide metaphysis of innermost thighbone") AnnotationAssertion( "HP:0008783") AnnotationAssertion(rdfs:label "Wide proximal femoral metaphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87790,7 +87783,7 @@ SubClassOf( ) "Abnormally wide morphology of the proximal epiphysis of the femur.") AnnotationAssertion( "UMLS:C4024622") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide end part of innermost thighbone") AnnotationAssertion( "HP:0008784") AnnotationAssertion(rdfs:label "Wide capital femoral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87825,8 +87818,8 @@ AnnotationAssertion( "UMLS:C1866710") AnnotationAssertion( "UMLS:C4280411") AnnotationAssertion( "Absent pubic ossification in infancy") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation fo pubic bone") -AnnotationAssertion(Annotation( ) "Delayed mineralization of pubic bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation fo pubic bone") +AnnotationAssertion(Annotation( ) "Delayed mineralization of pubic bone") AnnotationAssertion( "HP:0008788") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Delayed pubic bone ossification") @@ -87837,7 +87830,7 @@ SubClassOf( ) "A cone-shaped deformity of the proximal epiphysis of the femur.") AnnotationAssertion( "UMLS:C1846157") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of innermost thighbone") AnnotationAssertion( "HP:0008789") AnnotationAssertion(rdfs:label "Cone-shaped capital femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87860,7 +87853,7 @@ AnnotationAssertion( "HP:0003783") AnnotationAssertion( "UMLS:C1846339") AnnotationAssertion( "Decreased femoral torsion") -AnnotationAssertion(Annotation( ) "Externally rotated hips") +AnnotationAssertion(Annotation( ) "Externally rotated hips") AnnotationAssertion( "HP:0008796") AnnotationAssertion(rdfs:comment "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.") AnnotationAssertion(rdfs:label "Femoral retroversion") @@ -87894,7 +87887,7 @@ SubClassOf( ) "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.") AnnotationAssertion( "UMLS:C1851542") -AnnotationAssertion(Annotation( ) "Limited hip movement") +AnnotationAssertion(Annotation( ) "Limited hip movement") AnnotationAssertion( "HP:0008800") AnnotationAssertion(rdfs:label "Limited hip movement") SubClassOf( ) @@ -87916,7 +87909,7 @@ AnnotationAssertion( "UMLS:C1856920") AnnotationAssertion( "Hypoplastic femoral head") AnnotationAssertion( "Small femoral heads") -AnnotationAssertion(Annotation( ) Annotation( ) "Small head of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small head of thigh bone") AnnotationAssertion( "HP:0008802") AnnotationAssertion(rdfs:label "Hypoplasia of the femoral head") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87934,7 +87927,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Increased width of the femoral head.") AnnotationAssertion( "UMLS:C4024619") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide head of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide head of thigh bone") AnnotationAssertion( "HP:0008804") AnnotationAssertion(rdfs:label "Broad femoral head") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -87969,7 +87962,7 @@ SubClassOf( ) "An abnormally flattened femoral head.") AnnotationAssertion( "UMLS:C1860601") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat head of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat head of thigh bone") AnnotationAssertion(Annotation( ) "Flattened femoral heads") AnnotationAssertion( "HP:0008812") AnnotationAssertion(rdfs:label "Flattened femoral head") @@ -87980,7 +87973,7 @@ SubClassOf( "A developmental defect characterized by lack of development of the pubis bone.") AnnotationAssertion( "UMLS:C1848660") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pubic bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pubic bones") AnnotationAssertion(Annotation( ) "Aplastic pubic bones") AnnotationAssertion( "HP:0008817") AnnotationAssertion(rdfs:label "Aplastic pubic bone") @@ -88001,7 +87994,7 @@ SubClassOf( ) "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).") AnnotationAssertion( "UMLS:C1863739") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow neck of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow neck of thigh bone") AnnotationAssertion(Annotation( ) "Narrow femoral necks") AnnotationAssertion( "HP:0008819") AnnotationAssertion(rdfs:label "Narrow femoral neck") @@ -88066,7 +88059,7 @@ SubClassOf( ) "Joint dislocation of the femoral head.") AnnotationAssertion( "UMLS:C1859446") AnnotationAssertion( "Dislocated femoral heads") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated head of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated head of thigh bone") AnnotationAssertion( "HP:0008826") AnnotationAssertion(rdfs:label "Dislocation of the femoral head") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88092,7 +88085,7 @@ SubClassOf( ) "Delayed ossification of the femoral head.") AnnotationAssertion( "UMLS:C1846446") AnnotationAssertion( "UMLS:C4280410") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the head of the thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the head of the thigh bone") AnnotationAssertion( "HP:0008829") AnnotationAssertion(rdfs:label "Delayed femoral head ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -88129,7 +88122,7 @@ SubClassOf( (Stippled calcification proximal humeral epiphyses) AnnotationAssertion( "UMLS:C1857243") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of innermost long bone of upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of innermost long bone of upper arm") AnnotationAssertion( "HP:0008838") AnnotationAssertion(rdfs:label "Stippled calcification proximal humeral epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88183,7 +88176,7 @@ AnnotationAssertion( "HP:0008906") AnnotationAssertion( "UMLS:C1855843") AnnotationAssertion( "Intrauterine growth retardation, severe") -AnnotationAssertion(Annotation( ) "Severe prenatal growth deficiency") +AnnotationAssertion(Annotation( ) "Severe prenatal growth deficiency") AnnotationAssertion( "HP:0008846") AnnotationAssertion(rdfs:label "Severe intrauterine growth retardation") SubClassOf( ) @@ -88193,7 +88186,7 @@ SubClassOf( ) "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.") AnnotationAssertion( "HP:0008891") AnnotationAssertion( "UMLS:C1861519") -AnnotationAssertion(Annotation( ) "Moderate short stature") +AnnotationAssertion(Annotation( ) "Moderate short stature") AnnotationAssertion(Annotation( ) "Short stature, moderate") AnnotationAssertion( "HP:0008848") AnnotationAssertion(rdfs:label "Moderately short stature") @@ -88207,10 +88200,10 @@ AnnotationAssertion( "HP:0008911") AnnotationAssertion( "HP:0008932") AnnotationAssertion( "UMLS:C1857641") -AnnotationAssertion(Annotation( ) "Marked growth retardation") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe growth delay in children") +AnnotationAssertion(Annotation( ) "Marked growth retardation") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe growth delay in children") AnnotationAssertion( "Severe postnatal growth deficiency") -AnnotationAssertion(Annotation( ) "Severe postnatal growth failure") +AnnotationAssertion(Annotation( ) "Severe postnatal growth failure") AnnotationAssertion( "HP:0008850") AnnotationAssertion(rdfs:label "Severe postnatal growth retardation") SubClassOf( ) @@ -88219,7 +88212,7 @@ SubClassOf( ) "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.") AnnotationAssertion( "UMLS:C4024616") -AnnotationAssertion(Annotation( ) Annotation( ) "Moderate growth delay in children") +AnnotationAssertion(Annotation( ) Annotation( ) "Moderate growth delay in children") AnnotationAssertion( "HP:0008855") AnnotationAssertion(rdfs:label "Moderate postnatal growth retardation") SubClassOf( ) @@ -88237,8 +88230,8 @@ SubClassOf( "https://en.wikipedia.org/wiki/Failure_to_thrive") "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.") AnnotationAssertion( "UMLS:C1832323") -AnnotationAssertion(Annotation( ) Annotation( ) "Faltering weight secondary to recurrent infections") -AnnotationAssertion(Annotation( ) Annotation( ) "Weight faltering secondary to recurrent infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Faltering weight secondary to recurrent infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Weight faltering secondary to recurrent infections") AnnotationAssertion( "HP:0008866") AnnotationAssertion(rdfs:label "Failure to thrive secondary to recurrent infections") SubClassOf( ) @@ -88276,12 +88269,12 @@ AnnotationAssertion( "Disproportionate short limb dwarfism") AnnotationAssertion( "Dwarfism, short-limbed") AnnotationAssertion( "Micromelic dwarfism") -AnnotationAssertion(Annotation( ) "Short limb dwarfism, disproportionate") +AnnotationAssertion(Annotation( ) "Short limb dwarfism, disproportionate") AnnotationAssertion( "Short stature, disproportionate short limb") AnnotationAssertion( "Short stature, disproportionate short-limb") AnnotationAssertion( "Short-limb dwarfism") -AnnotationAssertion(Annotation( ) "Short-limbed dwarfism") -AnnotationAssertion(Annotation( ) Annotation( ) "Short limb dwarfism") +AnnotationAssertion(Annotation( ) "Short-limbed dwarfism") +AnnotationAssertion(Annotation( ) Annotation( ) "Short limb dwarfism") AnnotationAssertion( "HP:0008873") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs).") @@ -88304,7 +88297,7 @@ SubClassOf( ) "A loss of adipose tissue.") AnnotationAssertion( "HP:0008938") AnnotationAssertion( "UMLS:C4024615") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue") AnnotationAssertion( "HP:0008887") AnnotationAssertion(rdfs:label "Adipose tissue loss") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -88326,7 +88319,7 @@ AnnotationAssertion( "HP:0008901") AnnotationAssertion( "HP:0008918") AnnotationAssertion( "UMLS:C1859778") -AnnotationAssertion(Annotation( ) Annotation( ) "Growth delay as children") +AnnotationAssertion(Annotation( ) Annotation( ) "Growth delay as children") AnnotationAssertion( "Growth retardation as children") AnnotationAssertion( "Postnatal growth deceleration") AnnotationAssertion( "Postnatal growth deficiency") @@ -88343,7 +88336,7 @@ AnnotationAssertion( "HP:0008852") AnnotationAssertion( "HP:0008877") AnnotationAssertion( "UMLS:C1866730") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Disproportionately short upper portion of limb") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Disproportionately short upper portion of limb") AnnotationAssertion( "Rhizomelic dwarfism") AnnotationAssertion( "Rhizomelic limb shortening") AnnotationAssertion( "Rhizomelic short limbs") @@ -88388,10 +88381,10 @@ AnnotationAssertion( "Dwarfism, neonatal short-limbed") AnnotationAssertion( "Neonatal short-limbed dwarfism") AnnotationAssertion(Annotation( ) "Short limb dwarfism recognisable at birth") -AnnotationAssertion(Annotation( ) "Short limb dwarfism recognizable at birth") -AnnotationAssertion(Annotation( ) "Short-limb dwarfism identifiable at birth") +AnnotationAssertion(Annotation( ) "Short limb dwarfism recognizable at birth") +AnnotationAssertion(Annotation( ) "Short-limb dwarfism identifiable at birth") AnnotationAssertion( "Short-limb dwarfism identifiable neonatally") -AnnotationAssertion(Annotation( ) "Short-limbed dwarfism identifiable at birth") +AnnotationAssertion(Annotation( ) "Short-limbed dwarfism identifiable at birth") AnnotationAssertion( "HP:0008921") AnnotationAssertion(rdfs:label "Neonatal short-limb short stature") SubClassOf( ) @@ -88401,9 +88394,9 @@ SubClassOf( ) "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.") AnnotationAssertion( "HP:0003522") AnnotationAssertion( "UMLS:C3148833") -AnnotationAssertion(Annotation( ) "Childhood-onset short-trunk short stature") -AnnotationAssertion(Annotation( ) "Disproportionate short-trunk short stature, identifiable in childhood") -AnnotationAssertion(Annotation( ) "Short-trunk dwarfism identifiable during childhood") +AnnotationAssertion(Annotation( ) "Childhood-onset short-trunk short stature") +AnnotationAssertion(Annotation( ) "Disproportionate short-trunk short stature, identifiable in childhood") +AnnotationAssertion(Annotation( ) "Short-trunk dwarfism identifiable during childhood") AnnotationAssertion( "HP:0008922") AnnotationAssertion(rdfs:label "Childhood-onset short-trunk short stature") SubClassOf( ) @@ -88421,7 +88414,7 @@ AnnotationAssertion(Annotation( "UMLS:C1845123") AnnotationAssertion(Annotation( ) "Generalised low muscle tone in neonate") AnnotationAssertion(Annotation( ) "Generalised neonatal hypotonia") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized low muscle tone in neonate") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized low muscle tone in neonate") AnnotationAssertion(Annotation( ) "Hypotonia, neonatal, generalised") AnnotationAssertion( "Hypotonia, neonatal, generalized") AnnotationAssertion( "HP:0008935") @@ -88433,7 +88426,7 @@ SubClassOf( ) "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.") AnnotationAssertion( "HP:0002320") AnnotationAssertion( "UMLS:C1853743") -AnnotationAssertion(Annotation( ) Annotation( ) "Low muscle tone in trunk") +AnnotationAssertion(Annotation( ) Annotation( ) "Low muscle tone in trunk") AnnotationAssertion( "Muscular hypotonia of the trunk") AnnotationAssertion( "Truncal hypotonia") AnnotationAssertion( "HP:0008936") @@ -88448,8 +88441,8 @@ AnnotationAssertion( "UMLS:C0476486") AnnotationAssertion(Annotation( ) "Generalised lymphadenopathy") AnnotationAssertion(Annotation( ) "Generalised swelling of lymph nodes") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized swelling of lymph nodes") -AnnotationAssertion(Annotation( ) "Swollen lymph nodes affecting all regions of the body") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized swelling of lymph nodes") +AnnotationAssertion(Annotation( ) "Swollen lymph nodes affecting all regions of the body") AnnotationAssertion( "HP:0008940") AnnotationAssertion(rdfs:label "Generalized lymphadenopathy") SubClassOf( ) @@ -88509,7 +88502,7 @@ AnnotationAssertion( "HP:0002523") AnnotationAssertion( "HP:0010572") AnnotationAssertion( "UMLS:C1860834") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased muscle tone in infant") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased muscle tone in infant") AnnotationAssertion( "Hypotonia early") AnnotationAssertion( "Hypotonia in infancy") AnnotationAssertion( "Hypotonia, early") @@ -88536,7 +88529,7 @@ SubClassOf( ) "Underdevelopment of muscles of the shoulder.") AnnotationAssertion( "UMLS:C1969001") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped shoulder muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped shoulder muscle") AnnotationAssertion( "HP:0008952") AnnotationAssertion(rdfs:label "Shoulder muscle hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88580,7 +88573,7 @@ AnnotationAssertion( "Amyotrophy of the thigh musculature") AnnotationAssertion( "Proximal lower limb muscle atrophy") AnnotationAssertion( "Thigh muscle atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of thigh muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of thigh muscle") AnnotationAssertion( "HP:0008956") AnnotationAssertion(rdfs:label "Proximal lower limb amyotrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -88601,7 +88594,7 @@ SubClassOf( ) "Underdevelopment of the muscuklature of the calf.") AnnotationAssertion( "UMLS:C3805450") AnnotationAssertion( "Hypoplastic calf muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped calf muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped calf muscles") AnnotationAssertion( "HP:0008962") AnnotationAssertion(rdfs:label "Calf muscle hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88632,9 +88625,9 @@ SubClassOf( ) "A type of muscle stiffness that occurs following physical exertion.") AnnotationAssertion( "HP:0003633") AnnotationAssertion( "UMLS:C1855579") -AnnotationAssertion(Annotation( ) "Exercise-induced muscle stiffness") -AnnotationAssertion(Annotation( ) "Muscle stiffness with exercise") -AnnotationAssertion(Annotation( ) "Muscle stiffness, exercise-induced") +AnnotationAssertion(Annotation( ) "Exercise-induced muscle stiffness") +AnnotationAssertion(Annotation( ) "Muscle stiffness with exercise") +AnnotationAssertion(Annotation( ) "Muscle stiffness, exercise-induced") AnnotationAssertion( "HP:0008967") AnnotationAssertion(rdfs:label "Exercise-induced muscle stiffness") SubClassOf( ) @@ -88694,7 +88687,7 @@ AnnotationAssertion( "HP:0009024") AnnotationAssertion( "UMLS:C1843057") AnnotationAssertion( "Calf hypertrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of calf muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of calf muscles") AnnotationAssertion( "Muscular hypertrophy of the calf muscles") AnnotationAssertion( "HP:0008981") AnnotationAssertion(rdfs:comment "Distal lower limb hypertrophy") @@ -88709,10 +88702,10 @@ AnnotationAssertion(Annotation( "UMLS:C1969000") AnnotationAssertion( "UMLS:C4280408") AnnotationAssertion( "UMLS:C4280409") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of neck muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Small neck muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of neck muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of neck muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of neck muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Small neck muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of neck muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficiency of neck muscle") AnnotationAssertion(Annotation( ) "Hypotrophic neck muscle") AnnotationAssertion( "HP:0008984") AnnotationAssertion(rdfs:label "Neck muscle hypoplasia") @@ -88725,7 +88718,7 @@ SubClassOf( ) "An abnormal increase in the amount of intramuscular fat tissue.") AnnotationAssertion( "UMLS:C1835389") AnnotationAssertion(Annotation( ) "Increased IM fat") -AnnotationAssertion(Annotation( ) "Increased intramuscular fat") +AnnotationAssertion(Annotation( ) "Increased intramuscular fat") AnnotationAssertion( "HP:0008985") AnnotationAssertion(rdfs:label "Increased intramuscular fat") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -88738,7 +88731,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:702613006") AnnotationAssertion( "SNOMEDCT_US:72424001") AnnotationAssertion( "UMLS:C0221360") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent diaphragm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent diaphragm") AnnotationAssertion( "Agenesis of diaphragm") AnnotationAssertion( "HP:0008986") AnnotationAssertion(rdfs:comment "An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity.") @@ -88803,8 +88796,8 @@ SubClassOf( ) "Underdevelopment of the pectoral muscle.") AnnotationAssertion( "UMLS:C1846477") AnnotationAssertion( "Hypoplastic pectoral muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Small pec muscle") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pec muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Small pec muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pec muscle") AnnotationAssertion( "HP:0008998") AnnotationAssertion(rdfs:label "Pectoralis hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88816,7 +88809,7 @@ SubClassOf( ) "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.") AnnotationAssertion( "HP:0008989") AnnotationAssertion( "UMLS:C1835384") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue in trunk") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue in trunk") AnnotationAssertion( "Loss of subcutaneous truncal adipose tissue") AnnotationAssertion( "Loss of truncal adipose tissue") AnnotationAssertion( "HP:0009002") @@ -88828,7 +88821,7 @@ SubClassOf( ) "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.") AnnotationAssertion( "UMLS:C1837781") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased fat below the skin in trunk") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased fat below the skin in trunk") AnnotationAssertion( "HP:0009003") AnnotationAssertion(rdfs:label "Increased subcutaneous truncal adipose tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -88842,8 +88835,8 @@ AnnotationAssertion( "SNOMEDCT_US:205530002") AnnotationAssertion( "UMLS:C0240414") AnnotationAssertion( "Muscle hypoplasia") -AnnotationAssertion(Annotation( ) "Poorly developed skeletal musculature") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped muscle") +AnnotationAssertion(Annotation( ) "Poorly developed skeletal musculature") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped muscle") AnnotationAssertion( "Underdeveloped muscles") AnnotationAssertion( "HP:0009004") AnnotationAssertion(rdfs:label "Hypoplasia of the musculature") @@ -88863,7 +88856,7 @@ SubClassOf( ) "Underdevelopment of the biceps muscle.") AnnotationAssertion( "UMLS:C1862499") AnnotationAssertion( "Hypoplastic biceps") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped biceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped biceps") AnnotationAssertion( "HP:0009007") AnnotationAssertion(rdfs:label "Biceps hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88893,7 +88886,7 @@ SubClassOf( ) "Underdevelopment of muscles of the arm.") AnnotationAssertion( "UMLS:C1846478") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of upper limb muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of upper limb muscles") AnnotationAssertion( "HP:0009016") AnnotationAssertion(rdfs:label "Upper limb muscle hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -88904,7 +88897,7 @@ SubClassOf( ) "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.") AnnotationAssertion( "UMLS:C4024606") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue below the skin in gluts") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue below the skin in gluts") AnnotationAssertion( "HP:0009017") AnnotationAssertion(rdfs:label "Loss of gluteal subcutaneous adipose tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -88915,9 +88908,9 @@ SubClassOf( "UMLS:C1837510") AnnotationAssertion(Annotation( ) "Atrophy of facial adipose tissue") AnnotationAssertion(Annotation( ) "Facial fat atrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial fat wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial fat wasting") AnnotationAssertion( "Loss of subcutaneous adipose tissue from face, progressive") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressive loss of facial fat") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressive loss of facial fat") AnnotationAssertion(Annotation( ) "Progressive loss of facial subcutaneous adipose tissue") AnnotationAssertion(Annotation( ) "Progressive loss of subcutaneous adipose tissue from face") AnnotationAssertion( "HP:0009019") @@ -88970,11 +88963,11 @@ AnnotationAssertion( "SNOMEDCT_US:6077001") AnnotationAssertion( "UMLS:C0085684") AnnotationAssertion( "UMLS:C1866141") -AnnotationAssertion(Annotation( ) "Foot drop") +AnnotationAssertion(Annotation( ) "Foot drop") AnnotationAssertion( "Foot extensor weakness") AnnotationAssertion( "Footdrop") -AnnotationAssertion(Annotation( ) "Inability to heel walk") -AnnotationAssertion(Annotation( ) "Inability to walk on heels") +AnnotationAssertion(Annotation( ) "Inability to heel walk") +AnnotationAssertion(Annotation( ) "Inability to walk on heels") AnnotationAssertion( "HP:0009027") AnnotationAssertion(rdfs:comment "Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal.") AnnotationAssertion(rdfs:label "Foot dorsiflexor weakness") @@ -89034,7 +89027,7 @@ SubClassOf( ) "Reduced ability to run.") AnnotationAssertion( "SNOMEDCT_US:282479002") AnnotationAssertion( "UMLS:C0560346") -AnnotationAssertion(Annotation( ) "Difficulty running") +AnnotationAssertion(Annotation( ) "Difficulty running") AnnotationAssertion( "HP:0009046") AnnotationAssertion(rdfs:label "Difficulty running") SubClassOf( ) @@ -89057,7 +89050,7 @@ SubClassOf( ) "Muscular atrophy involving the quadriceps muscle.") AnnotationAssertion( "UMLS:C4024603") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of quad muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of quad muscles") AnnotationAssertion( "HP:0009050") AnnotationAssertion(rdfs:label "Quadriceps muscle atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89105,7 +89098,7 @@ AnnotationAssertion(Annotation( ) "Generalised muscle atrophy, proximal and distal") AnnotationAssertion(Annotation( ) "Generalised muscle wasting") AnnotationAssertion( "Generalized muscle atrophy, proximal and distal") -AnnotationAssertion(Annotation( ) Annotation( ) "Generalized muscle wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Generalized muscle wasting") AnnotationAssertion( "HP:0009055") AnnotationAssertion(rdfs:label "Generalized limb muscle atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89114,7 +89107,7 @@ SubClassOf( (Loss of subcutaneous adipose tissue from upper limbs) AnnotationAssertion( "UMLS:C4024602") -AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue below the skin from upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Loss of fat tissue below the skin from upper limbs") AnnotationAssertion( "HP:0009056") AnnotationAssertion(rdfs:label "Loss of subcutaneous adipose tissue from upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89125,14 +89118,14 @@ SubClassOf( ) Annotation( "PMID:20691590") "An abnormal accumulation of lipids in skeletal muscle.") AnnotationAssertion( "HP:0100949") AnnotationAssertion( "UMLS:C1837262") -AnnotationAssertion(Annotation( ) "Fat accumulation in muscle fibers") +AnnotationAssertion(Annotation( ) "Fat accumulation in muscle fibers") AnnotationAssertion(Annotation( ) "Fat accumulation in muscle fibres") -AnnotationAssertion(Annotation( ) "Fat deposits in muscle fibers") +AnnotationAssertion(Annotation( ) "Fat deposits in muscle fibers") AnnotationAssertion(Annotation( ) "Fat deposits in muscle fibres") -AnnotationAssertion(Annotation( ) "Increased muscle lipid content") -AnnotationAssertion(Annotation( ) "Lipid accumulation in skeletal muscle") +AnnotationAssertion(Annotation( ) "Increased muscle lipid content") +AnnotationAssertion(Annotation( ) "Lipid accumulation in skeletal muscle") AnnotationAssertion( "Muscle lipidosis") -AnnotationAssertion(Annotation( ) "Skeletal muscle lipid accumulation") +AnnotationAssertion(Annotation( ) "Skeletal muscle lipid accumulation") AnnotationAssertion( "HP:0009058") AnnotationAssertion(rdfs:comment "Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy.") AnnotationAssertion(rdfs:label "Increased muscle lipid content") @@ -89202,8 +89195,8 @@ SubClassOf( ) "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.") AnnotationAssertion( "UMLS:C4082951") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressive spinal muscle degeneration") -AnnotationAssertion(Annotation( ) Annotation( ) "Progressive spinal muscle wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressive spinal muscle degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Progressive spinal muscle wasting") AnnotationAssertion( "HP:0009067") AnnotationAssertion(rdfs:label "Progressive spinal muscular atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89274,7 +89267,7 @@ SubClassOf( "PMID:19125428") "Increased width of the alveolar ridges.") AnnotationAssertion( "HP:0009078") AnnotationAssertion( "HP:0009083") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of gum ridge") AnnotationAssertion( "UMLS:C1856164") AnnotationAssertion( "UMLS:C1865598") AnnotationAssertion(Annotation( ) "Alveolar ridge excess") @@ -89283,7 +89276,7 @@ AnnotationAssertion(Annotation( ) "Hyperplasia of alveolar ridge") AnnotationAssertion(Annotation( ) "Increased size of alveolar ridge") AnnotationAssertion( "Overgrowth of alveolar ridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of gum ridge") AnnotationAssertion( "Thick alveolar ridges") AnnotationAssertion( "Thickened alveolar ridges") AnnotationAssertion( "Hypertrophied alveolar ridge") @@ -89297,7 +89290,7 @@ SubClassOf( (Posteriorly placed tongue) AnnotationAssertion( "UMLS:C4024600") -AnnotationAssertion(Annotation( ) "Posteriorly placed tongue") +AnnotationAssertion(Annotation( ) "Posteriorly placed tongue") AnnotationAssertion( "HP:0009087") AnnotationAssertion(rdfs:label "Posteriorly placed tongue") SubClassOf( ) @@ -89327,9 +89320,9 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "UMLS:C1854934") AnnotationAssertion( "UMLS:C4280407") -AnnotationAssertion(Annotation( ) Annotation( ) "Increasing size of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Increasing size of gum ridge") AnnotationAssertion(Annotation( ) "Progressive hypertrophy of alveolar process of jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Increasing overgrowth of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Increasing overgrowth of gum ridge") AnnotationAssertion( "HP:0009092") AnnotationAssertion(rdfs:label "Progressive alveolar ridge hypertropy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89341,9 +89334,9 @@ AnnotationAssertion( "UMLS:C4280404") AnnotationAssertion( "UMLS:C4280405") AnnotationAssertion( "UMLS:C4280406") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of lower gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of lower gum ridge") AnnotationAssertion(Annotation( ) "Notch of lower alveolar ridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Notch of lower gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Notch of lower gum ridge") AnnotationAssertion(Annotation( ) "Notch of mandibular alveolar ridge") AnnotationAssertion(Annotation( ) "Cleft of lower alveolar process") AnnotationAssertion(Annotation( ) "Cleft of lower gingiva") @@ -89360,7 +89353,7 @@ SubClassOf( "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.") AnnotationAssertion( "UMLS:C4024599") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic oral thrush") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic oral thrush") AnnotationAssertion( "HP:0009098") AnnotationAssertion(rdfs:label "Chronic oral candidiasis") SubClassOf( ) @@ -89369,8 +89362,8 @@ SubClassOf( ) "Cleft palate of the midline of the palate.") AnnotationAssertion( "UMLS:C1850968") -AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft palate") -AnnotationAssertion(Annotation( ) "Midline cleft palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Central cleft palate") +AnnotationAssertion(Annotation( ) "Midline cleft palate") AnnotationAssertion( "HP:0009099") AnnotationAssertion(rdfs:label "Median cleft palate") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89402,12 +89395,12 @@ AnnotationAssertion(Annotation( "HP:0200095") AnnotationAssertion( "UMLS:C4024598") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "AOB") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of overlap of anterior upper and lower teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of overlap of anterior upper and lower teeth") AnnotationAssertion( "Anterior open bite") AnnotationAssertion(Annotation( ) "Anterior open bite between upper and lower teeth") AnnotationAssertion(Annotation( ) Annotation( ) "Anterior openbite") AnnotationAssertion(Annotation( ) Annotation( ) "Apertognathia malocclusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Gap between upper and lower front teeth when biting") +AnnotationAssertion(Annotation( ) Annotation( ) "Gap between upper and lower front teeth when biting") AnnotationAssertion( "HP:0009102") AnnotationAssertion(rdfs:label "Anterior open-bite malocclusion") SubClassOf( ) @@ -89432,9 +89425,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-04T08:41:00Z") AnnotationAssertion( "HP:0008841") AnnotationAssertion( "UMLS:C1849305") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pubic bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pubic bones") -AnnotationAssertion(Annotation( ) "Hypoplastic/aplastic pubic bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pubic bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pubic bones") +AnnotationAssertion(Annotation( ) "Hypoplastic/aplastic pubic bones") AnnotationAssertion( "HP:0009104") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the pubic bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89448,7 +89441,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-04T08:41:00Z") AnnotationAssertion( "UMLS:C4024596") AnnotationAssertion( "UMLS:C4280403") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the pubic bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the pubic bone") AnnotationAssertion( "HP:0009105") AnnotationAssertion(rdfs:label "Abnormal ossification of the pubic bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89463,7 +89456,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021525") AnnotationAssertion( "UMLS:C4280402") AnnotationAssertion( "Abnormal ossification involving the bones of the pelvis") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the pelvis bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the pelvis bone") AnnotationAssertion( "HP:0009106") AnnotationAssertion(rdfs:label "Abnormal pelvis bone ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89475,7 +89468,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-04T08:42:00Z") AnnotationAssertion( "UMLS:C4024595") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of thigh bone head and neck") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of thigh bone head and neck") AnnotationAssertion( "HP:0009107") AnnotationAssertion(rdfs:label "Abnormal ossification involving the femoral head and neck") EquivalentClasses(Annotation(dcterms:creator ) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89487,8 +89480,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-04T08:44:00Z") AnnotationAssertion( "UMLS:C4024594") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small head and neck of thighbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped head and neck of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small head and neck of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped head and neck of thighbone") AnnotationAssertion( "HP:0009108") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the femoral head and neck") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -89545,7 +89538,7 @@ AnnotationAssertion( "UMLS:C0521532") AnnotationAssertion( "UMLS:C4020786") AnnotationAssertion( "Diaphragmatic paraparesis") -AnnotationAssertion(Annotation( ) Annotation( ) "Weak diaphragm") +AnnotationAssertion(Annotation( ) Annotation( ) "Weak diaphragm") AnnotationAssertion( "Diminished diaphragmatic motion") AnnotationAssertion( "HP:0009113") AnnotationAssertion(rdfs:comment "Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination.") @@ -89559,8 +89552,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-05T10:53:00Z") AnnotationAssertion( "UMLS:C4024592") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped skeleton") AnnotationAssertion( "HP:0009115") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia involving the skeleton") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89584,7 +89577,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-04-05T10:57:00Z") AnnotationAssertion( "UMLS:C4024590") AnnotationAssertion(Annotation( ) "Underdevelopment of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of upper jaw bones") AnnotationAssertion( "HP:0009117") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the maxilla") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89672,9 +89665,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-05T11:40:00Z") AnnotationAssertion( "UMLS:C4021524") -AnnotationAssertion(Annotation( ) "Abnormality of adipose tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of fat tissue") -AnnotationAssertion(Annotation( ) "Abnormality of fatty tissue") +AnnotationAssertion(Annotation( ) "Abnormality of adipose tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of fat tissue") +AnnotationAssertion(Annotation( ) "Abnormality of fatty tissue") AnnotationAssertion( "HP:0009124") AnnotationAssertion(rdfs:label "Abnormal adipose tissue morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89688,7 +89681,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D008060") AnnotationAssertion( "SNOMEDCT_US:71325002") AnnotationAssertion( "UMLS:C0023787") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to make and keep healthy fat tissue") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to make and keep healthy fat tissue") AnnotationAssertion( "HP:0009125") AnnotationAssertion(rdfs:label "Lipodystrophy") SubClassOf( ) @@ -89699,8 +89692,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-05T11:43:00Z") AnnotationAssertion( "UMLS:C4024583") -AnnotationAssertion(Annotation( ) "Increased adipose tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased fat tissue") +AnnotationAssertion(Annotation( ) "Increased adipose tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased fat tissue") AnnotationAssertion( "HP:0009126") AnnotationAssertion(rdfs:label "Increased adipose tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89712,8 +89705,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T02:00:00Z") AnnotationAssertion( "UMLS:C4024582") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal limb muscles") -AnnotationAssertion(Annotation( ) "Muscle issues in the arms and/or legs") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal limb muscles") +AnnotationAssertion(Annotation( ) "Muscle issues in the arms and/or legs") AnnotationAssertion( "HP:0009127") AnnotationAssertion(rdfs:label "Abnormality of the musculature of the limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89725,8 +89718,8 @@ SubClassOf( ) AnnotationAssertion( "2008-04-07T02:01:00Z") AnnotationAssertion( "UMLS:C4024581") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small muscles of extremities") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped muscles of extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small muscles of extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped muscles of extremities") AnnotationAssertion( "HP:0009128") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia involving the musculature of the extremities") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89759,7 +89752,7 @@ AnnotationAssertion( "UMLS:C0239830") AnnotationAssertion( "Amyotrophy involving the musculature of the hand") AnnotationAssertion( "Amyotrophy of hand muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Hand muscle degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Hand muscle degeneration") AnnotationAssertion( "Hand muscle wasting") AnnotationAssertion( "Hand muscle wasting, bilateral") AnnotationAssertion( "HP:0009130") @@ -89809,7 +89802,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-17T02:45:00Z") AnnotationAssertion( "UMLS:C4024578") -AnnotationAssertion(Annotation( ) "Duplication involving bones of the feet") +AnnotationAssertion(Annotation( ) "Duplication involving bones of the feet") AnnotationAssertion( "HP:0009136") AnnotationAssertion(rdfs:label "Duplication involving bones of the feet") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89822,7 +89815,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-17T02:51:00Z") AnnotationAssertion( "UMLS:C4024577") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the bones of the lower limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the bones of the lower limbs") AnnotationAssertion( "HP:0009138") AnnotationAssertion(rdfs:label "Synostosis involving bones of the lower limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89846,7 +89839,7 @@ SubClassOf( ) AnnotationAssertion( "2008-04-17T02:54:00Z") AnnotationAssertion( "UMLS:C4024575") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the bones of the feet") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the bones of the feet") AnnotationAssertion( "HP:0009140") AnnotationAssertion(rdfs:label "Synostosis involving bones of the feet") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89869,7 +89862,7 @@ SubClassOf( ) AnnotationAssertion( "2008-05-02T01:23:00Z") AnnotationAssertion( "UMLS:C4024574") -AnnotationAssertion(Annotation( ) "Duplication of bones involving the upper extremities") +AnnotationAssertion(Annotation( ) "Duplication of bones involving the upper extremities") AnnotationAssertion( "HP:0009142") AnnotationAssertion(rdfs:label "Duplication of bones involving the upper extremities") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89891,8 +89884,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-05-02T01:39:00Z") AnnotationAssertion( "UMLS:C4021520") -AnnotationAssertion(Annotation( ) "Abnormality of cerebral artery") -AnnotationAssertion(Annotation( ) "Abnormality of the cerebral arteries") +AnnotationAssertion(Annotation( ) "Abnormality of cerebral artery") +AnnotationAssertion(Annotation( ) "Abnormality of the cerebral arteries") AnnotationAssertion( "HP:0009145") AnnotationAssertion(rdfs:label "Abnormal cerebral artery morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89905,9 +89898,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T01:39:32Z") AnnotationAssertion( "UMLS:C4024572") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of pinky finger") AnnotationAssertion( "HP:0009147") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89921,9 +89914,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T01:40:08Z") AnnotationAssertion( "UMLS:C4024571") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of pinky finger") AnnotationAssertion( "HP:0009148") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89939,9 +89932,9 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009137") AnnotationAssertion( "UMLS:C4021519") AnnotationAssertion( "Delta-shaped epiphysis of the distal phalanx of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of pinky finger") AnnotationAssertion( "HP:0009149") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89955,9 +89948,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T02:00:20Z") AnnotationAssertion( "UMLS:C4024570") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone pinky finger") AnnotationAssertion( "HP:0009150") AnnotationAssertion(rdfs:label "Abnormality of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -89969,9 +89962,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T02:07:27Z") AnnotationAssertion( "UMLS:C4024569") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of pinky finger bone") AnnotationAssertion( "HP:0009152") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -89984,9 +89977,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T05:47:42Z") AnnotationAssertion( "UMLS:C4024568") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the innermost bone of pinky finger") AnnotationAssertion( "HP:0009153") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90001,10 +89994,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-12-22T05:50:39Z") AnnotationAssertion( "HP:0009156") AnnotationAssertion( "UMLS:C4021518") -AnnotationAssertion(Annotation( ) "Delta-shaped epiphysis of the proximal phalanx of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) "Delta-shaped epiphysis of the proximal phalanx of the 5th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of pinky finger") AnnotationAssertion( "HP:0009154") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90019,9 +90012,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-12-22T05:50:39Z") AnnotationAssertion( "UMLS:C4020783") AnnotationAssertion( "UMLS:C4020784") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of pinky finger") AnnotationAssertion( "Angel-shaped epiphysis of the proximal phalanx of the 5th finger") AnnotationAssertion( "Cone-shaped epiphysis of the proximal phalanx of the little finger") AnnotationAssertion( "HP:0009155") @@ -90039,9 +90032,9 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4020782") AnnotationAssertion( "UMLS:C4024567") AnnotationAssertion(Annotation( ) "Increased bone density of end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of pinky finger") -AnnotationAssertion(Annotation( ) "Ivory epiphysis of the proximal phalanx of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) "Ivory epiphysis of the proximal phalanx of the little finger") AnnotationAssertion( "HP:0009157") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90055,9 +90048,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T05:50:39Z") AnnotationAssertion( "UMLS:C4024566") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of pinky finger") AnnotationAssertion( "HP:0009158") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90069,9 +90062,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T05:50:39Z") AnnotationAssertion( "UMLS:C4024565") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of pinky finger") AnnotationAssertion( "HP:0009159") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90085,9 +90078,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-22T05:50:39Z") AnnotationAssertion( "UMLS:C4024564") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of pinky finger") AnnotationAssertion( "HP:0009160") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90103,10 +90096,10 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006242") AnnotationAssertion( "UMLS:C1834034") AnnotationAssertion( "Absent/hypoplastic middle phalanx of 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of pinky finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinky finger") AnnotationAssertion( "HP:0009161") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90120,9 +90113,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-12-22T06:08:40Z") AnnotationAssertion( "HP:0005774") AnnotationAssertion( "UMLS:C3277750") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinky finger") AnnotationAssertion( "Aplasia of the middle phalanx of the 5th finger") AnnotationAssertion( "HP:0009162") AnnotationAssertion(rdfs:label "Absent middle phalanx of 5th finger") @@ -90144,7 +90137,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-12-22T06:53:39Z") AnnotationAssertion( "HP:0006154") AnnotationAssertion( "UMLS:C1968592") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal calcification of the wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal calcification of the wrist bones") AnnotationAssertion( "Carpal calcifications") AnnotationAssertion( "HP:0009164") AnnotationAssertion(rdfs:label "Abnormal calcification of the carpal bones") @@ -90158,9 +90151,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T02:07:42Z") AnnotationAssertion( "UMLS:C4024563") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of pinky finger") AnnotationAssertion( "HP:0009165") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90174,9 +90167,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T02:14:33Z") AnnotationAssertion( "UMLS:C4024562") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of pinky finger") AnnotationAssertion( "HP:0009166") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90190,9 +90183,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T02:18:06Z") AnnotationAssertion( "UMLS:C4024561") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of pinky finger") AnnotationAssertion( "HP:0009167") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90206,9 +90199,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T02:44:53Z") AnnotationAssertion( "UMLS:C4024560") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle pinky finger bone") AnnotationAssertion( "HP:0009168") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90222,9 +90215,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T02:49:04Z") AnnotationAssertion( "UMLS:C4021517") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of pinky finger") AnnotationAssertion( "Wide middle phalanx of the 5th finger") AnnotationAssertion( "HP:0009169") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 5th finger") @@ -90252,7 +90245,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "UMLS:C4024558") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the long bone of hand") AnnotationAssertion( "HP:0009171") AnnotationAssertion(rdfs:label "Triangular epiphyses of the metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90266,7 +90259,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-05T04:18:24Z") AnnotationAssertion( "HP:0004191") AnnotationAssertion( "UMLS:C4021516") -AnnotationAssertion(Annotation( ) "Abnormal bones of 4th finger") +AnnotationAssertion(Annotation( ) "Abnormal bones of 4th finger") AnnotationAssertion( "Abnormality of the phalanges of the ring finger") AnnotationAssertion( "HP:0009172") AnnotationAssertion(rdfs:label "Abnormal 4th finger phalanx morphology") @@ -90280,9 +90273,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T03:05:04Z") AnnotationAssertion( "UMLS:C4024557") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinky finger") AnnotationAssertion( "HP:0009173") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90296,7 +90289,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T04:23:43Z") AnnotationAssertion( "UMLS:C4024556") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the ring finger") AnnotationAssertion( "HP:0009174") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90309,9 +90302,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T03:10:34Z") AnnotationAssertion( "UMLS:C4024555") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinky finger") AnnotationAssertion( "HP:0009175") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90329,9 +90322,9 @@ AnnotationAssertion( "HP:0006025") AnnotationAssertion( "HP:0009235") AnnotationAssertion( "UMLS:C1836212") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of pinky finger") AnnotationAssertion( "Proximal 5th finger symphalangism") AnnotationAssertion( "Proximal fifth finger symphalangism") AnnotationAssertion( "Symphalangism of the proximal and middle phalanges of the 5th finger") @@ -90348,9 +90341,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T03:17:43Z") AnnotationAssertion( "UMLS:C4024554") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of pinky finger") AnnotationAssertion( "HP:0009178") AnnotationAssertion(rdfs:label "Symphalangism of middle phalanx of 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90365,9 +90358,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-12-29T03:29:20Z") AnnotationAssertion( "HP:0006036") AnnotationAssertion( "UMLS:C4021515") -AnnotationAssertion(Annotation( ) Annotation( ) "Displaced little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Displaced pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Displaced pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Displaced little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Displaced pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Displaced pinky finger") AnnotationAssertion( "Laterally displaced fifth finger") AnnotationAssertion( "HP:0009179") AnnotationAssertion(rdfs:label "Deviation of the 5th finger") @@ -90393,9 +90386,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-29T04:05:33Z") AnnotationAssertion( "UMLS:C4024552") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle pinky finger bone") AnnotationAssertion( "HP:0009182") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90461,9 +90454,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T12:07:32Z") AnnotationAssertion( "UMLS:C4024549") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost pinky finger bone") AnnotationAssertion( "HP:0009187") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90490,7 +90483,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "UMLS:C4024547") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the long bone of hand") AnnotationAssertion( "HP:0009189") AnnotationAssertion(rdfs:label "Fragmentation of the metacarpal epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90503,7 +90496,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "UMLS:C4024546") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the long bone of hand") AnnotationAssertion( "HP:0009190") AnnotationAssertion(rdfs:label "Irregular epiphyses of the metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90516,7 +90509,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "UMLS:C4024545") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the long bone of hands") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the long bone of hands") AnnotationAssertion( "HP:0009191") AnnotationAssertion(rdfs:label "Ivory epiphyses of the metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90530,10 +90523,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:57:28Z") AnnotationAssertion( "UMLS:C4024544") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinky finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost pinky finger bone") AnnotationAssertion( "HP:0009192") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90563,7 +90556,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "UMLS:C4024543") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the long bone of hand") AnnotationAssertion( "HP:0009194") AnnotationAssertion(rdfs:label "Small epiphyses of the metacarpals") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90576,7 +90569,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "UMLS:C4021514") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the long bone of hand") AnnotationAssertion( "Stippling of the epiphyses of the metacarpals") AnnotationAssertion( "HP:0009195") AnnotationAssertion(rdfs:label "Epiphyseal stippling of the metacarpals") @@ -90592,7 +90585,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-12-30T02:03:34Z") AnnotationAssertion( "HP:0006013") AnnotationAssertion( "UMLS:C4021513") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the long bone of hand") AnnotationAssertion( "Absent metacarpal ossification center") AnnotationAssertion(Annotation( ) "Absent metacarpal ossification centre") AnnotationAssertion( "HP:0009196") @@ -90607,9 +90600,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:05:01Z") AnnotationAssertion( "UMLS:C4024542") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinky finger") AnnotationAssertion( "HP:0009197") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -90624,9 +90617,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-05T04:41:32Z") AnnotationAssertion( "HP:0004228") AnnotationAssertion( "UMLS:C4021512") -AnnotationAssertion(Annotation( ) "Abnormality of end part of the outermost bone of the little finger") -AnnotationAssertion(Annotation( ) "Abnormality of end part of the outermost bone of the pinkie finger") -AnnotationAssertion(Annotation( ) "Abnormality of end part of the outermost bone of the pinky finger") +AnnotationAssertion(Annotation( ) "Abnormality of end part of the outermost bone of the little finger") +AnnotationAssertion(Annotation( ) "Abnormality of end part of the outermost bone of the pinkie finger") +AnnotationAssertion(Annotation( ) "Abnormality of end part of the outermost bone of the pinky finger") AnnotationAssertion( "Abnormality of the epiphysis of the terminal phalanx of the little finger") AnnotationAssertion( "HP:0009198") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 5th finger") @@ -90641,9 +90634,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:09:06Z") AnnotationAssertion( "UMLS:C4024541") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost pinky finger bone") AnnotationAssertion( "HP:0009199") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90670,9 +90663,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:11:42Z") AnnotationAssertion( "UMLS:C4024539") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innnermost bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innnermost bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innnermost bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innnermost bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innnermost bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innnermost bone of the pinky finger") AnnotationAssertion( "HP:0009201") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90686,9 +90679,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:13:41Z") AnnotationAssertion( "UMLS:C4024538") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the pinky finger") AnnotationAssertion( "HP:0009202") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90702,9 +90695,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024537") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009203") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90718,9 +90711,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024536") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009204") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90734,9 +90727,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024535") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009205") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90750,9 +90743,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024534") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009206") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90766,9 +90759,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024533") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009207") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90782,9 +90775,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024532") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009208") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90798,9 +90791,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024531") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of pinky finger") AnnotationAssertion( "HP:0009209") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90827,9 +90820,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024529") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009211") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90843,9 +90836,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4024528") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009212") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90860,9 +90853,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-05T05:22:18Z") AnnotationAssertion( "UMLS:C4021511") AnnotationAssertion( "Delta-shaped epiphysis of the middle phalanx of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinky finger") AnnotationAssertion( "HP:0009213") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90876,7 +90869,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024527") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009214") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90890,7 +90883,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024526") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009215") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90904,7 +90897,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024525") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009216") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90918,7 +90911,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024524") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009217") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90932,7 +90925,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024523") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009218") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90946,7 +90939,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024522") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009219") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90960,7 +90953,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024521") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle ring finger bone") AnnotationAssertion( "HP:0009220") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -90987,7 +90980,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024519") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009222") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91001,7 +90994,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4024518") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009223") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91016,7 +91009,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-05T05:23:59Z") AnnotationAssertion( "UMLS:C4021510") AnnotationAssertion( "Delta-shaped epiphysis of the middle phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009224") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91030,9 +91023,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:00:33Z") AnnotationAssertion( "UMLS:C4024517") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of pinky finger") AnnotationAssertion( "HP:0009225") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91048,9 +91041,9 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021509") AnnotationAssertion( "Hypoplastic/small proximal phalanx of the 5th finger") AnnotationAssertion(Annotation( ) "Short innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost pinky finger bone") -AnnotationAssertion(Annotation( ) "Short proximal phalanx of the fifth finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost pinky finger bone") +AnnotationAssertion(Annotation( ) "Short proximal phalanx of the fifth finger") AnnotationAssertion( "HP:0009226") AnnotationAssertion(rdfs:label "Short proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91064,9 +91057,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:11:33Z") AnnotationAssertion( "UMLS:C4021508") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost pinky finger bone") AnnotationAssertion( "Wide proximal phalanx of the 5th finger") AnnotationAssertion( "HP:0009227") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 5th finger") @@ -91081,9 +91074,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:11:33Z") AnnotationAssertion( "UMLS:C4024516") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost pinky finger bone") AnnotationAssertion( "HP:0009228") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91097,9 +91090,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:11:33Z") AnnotationAssertion( "UMLS:C4024515") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of pinky finger") AnnotationAssertion( "HP:0009229") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91126,9 +91119,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:11:33Z") AnnotationAssertion( "UMLS:C4024513") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of pinky finger") AnnotationAssertion( "HP:0009231") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91143,9 +91136,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:11:33Z") AnnotationAssertion( "UMLS:C4024512") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinky finger") AnnotationAssertion( "HP:0009232") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91159,9 +91152,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:11:33Z") AnnotationAssertion( "UMLS:C4024511") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost pinky finger bone") AnnotationAssertion( "HP:0009233") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91175,9 +91168,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:19:01Z") AnnotationAssertion( "UMLS:C4024510") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of little finger with 5th long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinkie finger with 5th long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinky finger with 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of little finger with 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinkie finger with 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinky finger with 5th long bone of hand") AnnotationAssertion( "HP:0009234") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91191,9 +91184,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T06:20:38Z") AnnotationAssertion( "UMLS:C4024509") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped innermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped innermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped innermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped innermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped innermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped innermost bone of pinky finger") AnnotationAssertion( "HP:0009236") AnnotationAssertion(rdfs:label "Rhomboid or triangular shaped 5th finger proximal phalanx") SubClassOf( ) @@ -91216,13 +91209,13 @@ AnnotationAssertion( "Hypoplastic phalanges of the little finger") AnnotationAssertion( "Hypoplastic/small 5th finger") AnnotationAssertion( "Hypoplastic/small little finger") -AnnotationAssertion(Annotation( ) "Short 5th finger") -AnnotationAssertion(Annotation( ) "Short fifth finger") -AnnotationAssertion(Annotation( ) "Short fifth fingers") -AnnotationAssertion(Annotation( ) "Short little finger") +AnnotationAssertion(Annotation( ) "Short 5th finger") +AnnotationAssertion(Annotation( ) "Short fifth finger") +AnnotationAssertion(Annotation( ) "Short fifth fingers") +AnnotationAssertion(Annotation( ) "Short little finger") AnnotationAssertion( "Short phalanges of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pinky finger") AnnotationAssertion( "HP:0009237") AnnotationAssertion(rdfs:label "Short 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91235,9 +91228,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T07:02:48Z") AnnotationAssertion( "UMLS:C4024508") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinky finger") AnnotationAssertion( "HP:0009238") AnnotationAssertion(rdfs:label "Aplasia of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91249,10 +91242,10 @@ SubClassOf( ) AnnotationAssertion( "2009-01-05T07:25:50Z") AnnotationAssertion( "UMLS:C4024507") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of pinky finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost bone of pinky finger") AnnotationAssertion( "HP:0009239") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91265,10 +91258,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T07:25:50Z") AnnotationAssertion( "UMLS:C4024506") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost pinky finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost pinky finger bone") AnnotationAssertion( "HP:0009240") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91282,9 +91275,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T07:25:50Z") AnnotationAssertion( "UMLS:C4024505") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost pinky finger bone") AnnotationAssertion( "HP:0009241") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91311,9 +91304,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T07:25:50Z") AnnotationAssertion( "UMLS:C4024503") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of pinky finger") AnnotationAssertion( "HP:0009243") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91332,12 +91325,12 @@ AnnotationAssertion( "UMLS:C1868573") AnnotationAssertion( "UMLS:C4020781") AnnotationAssertion( "Fifth finger distal interphalangeal joint symphalangism") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused end and middle bones of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused end and middle bones of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused end and middle bones of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused end and middle bones of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused end and middle bones of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused end and middle bones of pinky finger") AnnotationAssertion( "Symphalangism of the distal and middle phalanges of the 5th finger") AnnotationAssertion( "Symphalangism of the terminal and middle phalanges of the 5th finger") -AnnotationAssertion(Annotation( ) "Fusion of the terminal and middle phalanges of the 5th finger") +AnnotationAssertion(Annotation( ) "Fusion of the terminal and middle phalanges of the 5th finger") AnnotationAssertion( "HP:0009244") AnnotationAssertion(rdfs:label "Distal/middle symphalangism of 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91351,9 +91344,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T07:25:50Z") AnnotationAssertion( "UMLS:C4024502") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost pinky finger bone") AnnotationAssertion( "HP:0009245") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91367,9 +91360,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-05T07:27:52Z") AnnotationAssertion( "UMLS:C4024501") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost pinky finger bone") AnnotationAssertion( "HP:0009246") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91382,7 +91375,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-07T11:29:14Z") AnnotationAssertion( "UMLS:C4024500") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the ring finger") AnnotationAssertion( "HP:0009247") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91395,7 +91388,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-07T12:04:09Z") AnnotationAssertion( "UMLS:C4024499") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009248") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91408,7 +91401,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-07T12:04:09Z") AnnotationAssertion( "UMLS:C4024498") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009249") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91422,7 +91415,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024497") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009250") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91436,7 +91429,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024496") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009251") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91450,7 +91443,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024495") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009252") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91464,7 +91457,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024494") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009253") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91478,7 +91471,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024493") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009254") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91492,7 +91485,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024492") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009255") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91506,7 +91499,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024491") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost ring finger bone") AnnotationAssertion( "HP:0009256") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91533,7 +91526,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024489") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009258") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91547,7 +91540,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4024488") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009259") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91562,7 +91555,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-07T12:07:34Z") AnnotationAssertion( "UMLS:C4021507") AnnotationAssertion( "Delta-shaped epiphysis of the distal phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of ring finger") AnnotationAssertion( "HP:0009260") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91576,7 +91569,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024487") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009261") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91592,7 +91585,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004200") AnnotationAssertion( "UMLS:C4021506") AnnotationAssertion( "Bracket proximal epiphysis of the ring finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009262") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91606,7 +91599,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024486") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009263") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91620,7 +91613,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024485") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009264") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91634,7 +91627,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024484") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009265") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91648,7 +91641,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024483") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009266") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91662,7 +91655,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024482") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost ring finger bone") AnnotationAssertion( "HP:0009267") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91689,7 +91682,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024480") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009269") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91703,7 +91696,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4024479") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innermost bone of ring finger") AnnotationAssertion( "HP:0009270") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91718,7 +91711,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-07T12:12:59Z") AnnotationAssertion( "UMLS:C4021505") AnnotationAssertion( "Delta-shaped epiphysis of the proximal phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of ring finger") AnnotationAssertion( "HP:0009271") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -91732,8 +91725,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T04:01:26Z") AnnotationAssertion( "UMLS:C4024478") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ring finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ring finger bone") AnnotationAssertion( "HP:0009272") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91746,7 +91739,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T04:03:23Z") AnnotationAssertion( "UMLS:C4024477") -AnnotationAssertion(Annotation( ) Annotation( ) "Deviation of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Deviation of the ring finger") AnnotationAssertion( "HP:0009273") AnnotationAssertion(rdfs:label "Deviation of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91840,7 +91833,7 @@ AnnotationAssertion( "HP:0006211") AnnotationAssertion( "UMLS:C4021502") AnnotationAssertion( "Hypoplastic/small 4th finger") -AnnotationAssertion(Annotation( ) "Short ring finger") +AnnotationAssertion(Annotation( ) "Short ring finger") AnnotationAssertion( "HP:0009280") AnnotationAssertion(rdfs:label "Short 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91853,7 +91846,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-07T04:28:08Z") AnnotationAssertion( "UMLS:C4024472") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent ring finger") AnnotationAssertion( "HP:0009281") AnnotationAssertion(rdfs:label "Aplasia of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91865,7 +91858,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-07T04:42:40Z") AnnotationAssertion( "UMLS:C4024471") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of ring finger") AnnotationAssertion( "HP:0009282") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91877,8 +91870,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-07T04:42:40Z") AnnotationAssertion( "HP:0004204") AnnotationAssertion( "UMLS:C4021501") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle bone of ring finger") -AnnotationAssertion(Annotation( ) "Abnormality of the middle phalanx of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle bone of ring finger") +AnnotationAssertion(Annotation( ) "Abnormality of the middle phalanx of the ring finger") AnnotationAssertion( "HP:0009283") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91890,8 +91883,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-07T04:42:40Z") AnnotationAssertion( "HP:0004199") AnnotationAssertion( "UMLS:C4021500") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost bone of ring finger") -AnnotationAssertion(Annotation( ) "Abnormality of the proximal phalanx of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost bone of ring finger") +AnnotationAssertion(Annotation( ) "Abnormality of the proximal phalanx of the ring finger") AnnotationAssertion( "HP:0009284") AnnotationAssertion(rdfs:label "Abnormality of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91903,7 +91896,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T03:44:14Z") AnnotationAssertion( "UMLS:C4024470") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved ring finger bone") AnnotationAssertion( "HP:0009285") AnnotationAssertion(rdfs:label "Curved phalanges of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91917,7 +91910,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T03:46:28Z") AnnotationAssertion( "UMLS:C4024469") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost ring finger bone") AnnotationAssertion( "HP:0009286") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91931,7 +91924,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T03:46:28Z") AnnotationAssertion( "UMLS:C4024468") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle ring finger bone") AnnotationAssertion( "HP:0009287") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91944,7 +91937,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-08T03:46:28Z") AnnotationAssertion( "UMLS:C4024467") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost ring finger bone") AnnotationAssertion( "HP:0009288") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91957,8 +91950,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-08T03:59:04Z") AnnotationAssertion( "UMLS:C4024466") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost ring finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost ring finger bone") AnnotationAssertion( "HP:0009289") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91973,7 +91966,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021499") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 4th finger") AnnotationAssertion( "Short distal phalanx of the fourth finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of ring finger") AnnotationAssertion( "HP:0009290") AnnotationAssertion(rdfs:label "Short distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -91987,7 +91980,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:00:27Z") AnnotationAssertion( "UMLS:C4024465") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of ring finger") AnnotationAssertion( "HP:0009291") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92001,8 +91994,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:41:33Z") AnnotationAssertion( "UMLS:C4024464") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of ring finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of ring finger") AnnotationAssertion( "HP:0009292") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92016,7 +92009,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:59:22Z") AnnotationAssertion( "UMLS:C4024463") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the 4th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the 4th finger") AnnotationAssertion( "HP:0009293") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92030,7 +92023,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:11:35Z") AnnotationAssertion( "UMLS:C4021498") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of 4th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of 4th finger") AnnotationAssertion( "Aplasia of the middle phalanx of the 4th finger") AnnotationAssertion( "HP:0009294") AnnotationAssertion(rdfs:label "Absent middle phalanx of 4th finger") @@ -92050,7 +92043,7 @@ AnnotationAssertion( "Brachymesophalangy IV (finger)") AnnotationAssertion( "Hypoplastic/small middle phalanx of ring finger") AnnotationAssertion( "Hypoplastic/small middle phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of 4th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of 4th finger") AnnotationAssertion( "Short middle phalanx of ring finger") AnnotationAssertion( "HP:0009295") AnnotationAssertion(rdfs:label "Short middle phalanx of the 4th finger") @@ -92065,7 +92058,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:59:22Z") AnnotationAssertion( "UMLS:C4024462") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the 4th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the 4th finger") AnnotationAssertion( "HP:0009296") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92092,7 +92085,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:22:16Z") AnnotationAssertion( "UMLS:C4024460") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost ring finger bone") AnnotationAssertion( "HP:0009298") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92105,8 +92098,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-08T04:27:22Z") AnnotationAssertion( "UMLS:C4024459") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle ring finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle ring finger bone") AnnotationAssertion( "HP:0009299") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92119,8 +92112,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-08T04:28:54Z") AnnotationAssertion( "HP:0004203") AnnotationAssertion( "UMLS:C4020658") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost ring finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost ring finger bone") AnnotationAssertion( "HP:0009300") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92134,7 +92127,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-08T04:29:38Z") AnnotationAssertion( "UMLS:C4021496") AnnotationAssertion( "Hypoplastic/small proximal phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of the ring finger") AnnotationAssertion( "Short proximal phalanx of the fourth finger") AnnotationAssertion( "HP:0009301") AnnotationAssertion(rdfs:label "Short proximal phalanx of the 4th finger") @@ -92149,7 +92142,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:41:33Z") AnnotationAssertion( "UMLS:C4024458") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of ring finger") AnnotationAssertion( "HP:0009302") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92176,7 +92169,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:41:33Z") AnnotationAssertion( "UMLS:C4024456") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the ring finger") AnnotationAssertion( "HP:0009304") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92193,7 +92186,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009474") AnnotationAssertion( "HP:0009475") AnnotationAssertion( "UMLS:C4021495") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost and middle bones of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost and middle bones of ring finger") AnnotationAssertion( "Symphalangism of the distal and middle phalanges of the 4th finger") AnnotationAssertion( "HP:0009305") AnnotationAssertion(rdfs:label "Distal/middle symphalangism of 4th finger") @@ -92208,7 +92201,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:41:33Z") AnnotationAssertion( "UMLS:C4024455") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the ring finger") AnnotationAssertion( "HP:0009306") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92222,7 +92215,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:59:22Z") AnnotationAssertion( "UMLS:C4024454") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the ring finger") AnnotationAssertion( "HP:0009307") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92237,7 +92230,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:59:22Z") AnnotationAssertion( "UMLS:C4024453") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of ring finger") AnnotationAssertion( "HP:0009308") AnnotationAssertion(rdfs:label "Symphalangism of middle phalanx of 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92251,7 +92244,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T04:59:22Z") AnnotationAssertion( "UMLS:C4024452") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of the ring finger") AnnotationAssertion( "HP:0009309") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92266,7 +92259,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-08T05:11:48Z") AnnotationAssertion( "HP:0004201") AnnotationAssertion( "UMLS:C4020660") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost ring finger bone") AnnotationAssertion( "HP:0009310") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92280,7 +92273,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T05:11:48Z") AnnotationAssertion( "UMLS:C4024451") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost ring finger bone") AnnotationAssertion( "HP:0009311") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92308,7 +92301,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T05:11:48Z") AnnotationAssertion( "UMLS:C4024449") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the ring finger") AnnotationAssertion( "HP:0009313") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92323,7 +92316,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T05:11:48Z") AnnotationAssertion( "UMLS:C4024448") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of ring finger") AnnotationAssertion( "HP:0009314") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92337,8 +92330,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-08T05:11:48Z") AnnotationAssertion( "UMLS:C4024447") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of the 4th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of the ring finger") AnnotationAssertion( "HP:0009315") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92355,7 +92348,7 @@ AnnotationAssertion( "UMLS:C4021494") AnnotationAssertion( "Abnormality of 3rd finger phalanges") AnnotationAssertion( "Abnormality of middle finger phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle finger bones") AnnotationAssertion( "Abnormality of the phalanges of the 3rd finger") AnnotationAssertion( "HP:0009316") AnnotationAssertion(rdfs:label "Abnormal 3rd finger phalanx morphology") @@ -92370,7 +92363,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-12T11:02:27Z") AnnotationAssertion( "HP:0004152") AnnotationAssertion( "UMLS:C4021493") -AnnotationAssertion(Annotation( ) "Deviated middle finger") +AnnotationAssertion(Annotation( ) "Deviated middle finger") AnnotationAssertion( "HP:0009317") AnnotationAssertion(rdfs:label "Deviation of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92383,8 +92376,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:04:08Z") AnnotationAssertion( "UMLS:C4024446") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle finger") AnnotationAssertion( "HP:0009318") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92411,7 +92404,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:07:00Z") AnnotationAssertion( "UMLS:C4024445") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009320") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92424,7 +92417,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024444") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009321") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92438,7 +92431,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024443") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009322") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92452,7 +92445,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024442") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009323") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92466,7 +92459,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024441") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009324") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92480,7 +92473,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024440") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009325") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92494,7 +92487,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024439") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009326") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92508,7 +92501,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024438") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009327") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92537,7 +92530,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024437") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009329") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92551,7 +92544,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4024436") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009330") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92566,7 +92559,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-12T11:15:44Z") AnnotationAssertion( "UMLS:C4021490") AnnotationAssertion( "Delta-shaped epiphysis of the middle phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009331") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92579,7 +92572,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-12T11:16:06Z") AnnotationAssertion( "UMLS:C4024435") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009332") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92592,7 +92585,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-12T11:16:44Z") AnnotationAssertion( "UMLS:C4024434") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the middle finger") AnnotationAssertion( "HP:0009333") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92605,7 +92598,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-12T11:16:44Z") AnnotationAssertion( "UMLS:C4024433") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle part of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle part of the middle bone of the middle finger") AnnotationAssertion( "HP:0009334") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92619,7 +92612,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024432") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009335") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92633,7 +92626,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024431") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009336") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92647,7 +92640,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024430") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009337") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92661,7 +92654,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024429") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 3rd finger") AnnotationAssertion( "HP:0009338") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92675,7 +92668,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024428") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009339") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92689,7 +92682,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024427") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost long bone of the middle finger") AnnotationAssertion( "HP:0009340") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92703,7 +92696,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024426") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost middle finger bone") AnnotationAssertion( "HP:0009341") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92731,7 +92724,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024424") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost long bone of the middle finger") AnnotationAssertion( "HP:0009343") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92745,7 +92738,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4024423") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost long bone of the middle finger") AnnotationAssertion( "HP:0009344") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92760,7 +92753,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-12T11:18:33Z") AnnotationAssertion( "UMLS:C4021489") AnnotationAssertion( "Delta-shaped epiphysis of the distal phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost long bone of the middle finger") AnnotationAssertion( "HP:0009345") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92774,7 +92767,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024422") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009346") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92788,7 +92781,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024421") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009347") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92802,7 +92795,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024420") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the middle finger") AnnotationAssertion( "HP:0009348") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92817,7 +92810,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "HP:0004171") AnnotationAssertion( "UMLS:C4021488") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of innermost long bone of the middle finger") AnnotationAssertion( "Large epiphysis of proximal middle-finger phalanx") AnnotationAssertion( "HP:0009349") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 3rd finger") @@ -92832,7 +92825,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024419") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009350") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92846,7 +92839,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024418") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009351") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92860,7 +92853,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024417") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost middle finger bone") AnnotationAssertion( "HP:0009352") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92887,7 +92880,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024415") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009354") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92901,7 +92894,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4024414") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009355") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92916,7 +92909,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-12T11:19:03Z") AnnotationAssertion( "UMLS:C4021487") AnnotationAssertion( "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of innermost long bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of innermost long bone of the middle finger") AnnotationAssertion( "HP:0009356") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -92931,7 +92924,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004179") AnnotationAssertion( "UMLS:C4021486") AnnotationAssertion( "Abnormality of terminal phalanx of middle-finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 3rd finger") AnnotationAssertion( "HP:0009357") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -92943,7 +92936,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-12T11:42:37Z") AnnotationAssertion( "HP:0004167") AnnotationAssertion( "UMLS:C4021485") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost bone of middle finger") AnnotationAssertion( "Abnormality of proximal middle-finger phalanx") AnnotationAssertion( "HP:0009358") AnnotationAssertion(rdfs:label "Abnormality of the proximal phalanx of the 3rd finger") @@ -92976,7 +92969,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-13T10:50:19Z") AnnotationAssertion( "MSH:C537089") AnnotationAssertion( "UMLS:C1832702") -AnnotationAssertion(Annotation( ) Annotation( ) "Short index fingers and second toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Short index fingers and second toes") AnnotationAssertion( "HP:0009372") AnnotationAssertion(rdfs:label "Type A2 brachydactyly") SubClassOf( ) @@ -92997,9 +92990,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T10:55:04Z") AnnotationAssertion( "UMLS:C4024412") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinky finger bones") AnnotationAssertion( "HP:0009374") AnnotationAssertion(rdfs:label "Broad phalanges of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93012,9 +93005,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T10:58:05Z") AnnotationAssertion( "UMLS:C4024411") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped pinky finger bones") AnnotationAssertion( "HP:0009375") AnnotationAssertion(rdfs:label "Bullet-shaped phalanges of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93027,10 +93020,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T11:58:25Z") AnnotationAssertion( "UMLS:C4024410") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinky finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky finger bones") AnnotationAssertion( "HP:0009376") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93044,9 +93037,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-13T12:00:02Z") AnnotationAssertion( "UMLS:C4021484") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinky finger bone") AnnotationAssertion( "HP:0009377") AnnotationAssertion(rdfs:label "Patchy sclerosis of 5th finger phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93059,9 +93052,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T12:00:35Z") AnnotationAssertion( "UMLS:C4024409") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinky finger bones") AnnotationAssertion( "HP:0009378") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93074,9 +93067,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:01:44Z") AnnotationAssertion( "UMLS:C4024408") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid or triangular shaped pinky finger bone") AnnotationAssertion( "HP:0009379") AnnotationAssertion(rdfs:label "Rhomboid or triangular shaped 5th finger distal phalanx") SubClassOf( ) @@ -93089,7 +93082,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004093") AnnotationAssertion( "SNOMEDCT_US:71358006") AnnotationAssertion( "UMLS:C0728895") -AnnotationAssertion(Annotation( ) "Absent fingers") +AnnotationAssertion(Annotation( ) "Absent fingers") AnnotationAssertion( "HP:0009380") AnnotationAssertion(rdfs:label "Aplasia of the fingers") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93108,9 +93101,9 @@ AnnotationAssertion( "Hypoplastic digits") AnnotationAssertion( "Hypoplastic fingers") AnnotationAssertion( "Hypoplastic/small fingers") -AnnotationAssertion(Annotation( ) "Short finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Stubby finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Stubby fingers") +AnnotationAssertion(Annotation( ) "Short finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Stubby finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Stubby fingers") AnnotationAssertion( "HP:0009381") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short finger") @@ -93125,9 +93118,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024407") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of pinky finger bone") AnnotationAssertion( "HP:0009382") AnnotationAssertion(rdfs:label "Absent epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93140,9 +93133,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024406") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinky finger bone") AnnotationAssertion( "HP:0009383") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93155,9 +93148,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024405") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinky finger bones") AnnotationAssertion( "HP:0009384") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93170,9 +93163,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024404") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinky finger bones") AnnotationAssertion( "HP:0009385") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93185,9 +93178,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024403") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinky finger bones") AnnotationAssertion( "HP:0009386") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93200,9 +93193,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024402") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the little finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinkie finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinky finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the little finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinkie finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinky finger bones") AnnotationAssertion( "HP:0009387") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93215,9 +93208,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024401") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinky finger") AnnotationAssertion( "HP:0009388") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93243,9 +93236,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024399") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of pinky finger bone") AnnotationAssertion( "HP:0009390") AnnotationAssertion(rdfs:label "Small epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93258,9 +93251,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4024398") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of pinky finger bone") AnnotationAssertion( "HP:0009391") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93274,9 +93267,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-13T01:19:03Z") AnnotationAssertion( "UMLS:C4021483") AnnotationAssertion( "Delta-shaped epiphyses of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinky finger") AnnotationAssertion( "HP:0009392") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93289,7 +93282,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024397") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the ring finger bone") AnnotationAssertion( "HP:0009393") AnnotationAssertion(rdfs:label "Absent epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93303,7 +93296,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "HP:0004192") AnnotationAssertion( "UMLS:C4024396") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of ring finger bones") AnnotationAssertion( "HP:0009394") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93316,7 +93309,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024395") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the ring finger bones") AnnotationAssertion( "HP:0009395") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93329,7 +93322,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024394") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the ring finger bones") AnnotationAssertion( "HP:0009396") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93342,7 +93335,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024393") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the ring finger bones") AnnotationAssertion( "HP:0009397") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93355,7 +93348,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024392") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the ring finger bones") AnnotationAssertion( "HP:0009398") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93368,7 +93361,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024391") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the ring finger bone") AnnotationAssertion( "HP:0009399") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93394,7 +93387,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024389") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of ring finger bone") AnnotationAssertion( "HP:0009401") AnnotationAssertion(rdfs:label "Small epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93407,7 +93400,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4024388") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of ring finger bone") AnnotationAssertion( "HP:0009402") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93421,7 +93414,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-13T01:59:12Z") AnnotationAssertion( "UMLS:C4021482") AnnotationAssertion( "Delta-shaped epiphyses of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of ring finger bone") AnnotationAssertion( "HP:0009403") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93434,7 +93427,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T02:37:29Z") AnnotationAssertion( "UMLS:C4024387") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of ring finger") AnnotationAssertion( "HP:0009404") AnnotationAssertion(rdfs:label "Broad phalanges of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93447,7 +93440,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T02:37:29Z") AnnotationAssertion( "UMLS:C4024386") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped of bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped of bone of ring finger") AnnotationAssertion( "HP:0009405") AnnotationAssertion(rdfs:label "Bullet-shaped phalanges of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93461,7 +93454,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-13T02:37:29Z") AnnotationAssertion( "UMLS:C4021481") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in ring finger bone") AnnotationAssertion( "HP:0009406") AnnotationAssertion(rdfs:label "Patchy sclerosis of 4th finger phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93474,7 +93467,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-13T02:37:29Z") AnnotationAssertion( "UMLS:C4024385") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of ring finger") AnnotationAssertion( "HP:0009407") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93486,8 +93479,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-13T02:37:29Z") AnnotationAssertion( "UMLS:C4024384") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ring finger bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ring finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ring finger bones") AnnotationAssertion( "HP:0009408") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93500,7 +93493,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024383") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of middle finger bone") AnnotationAssertion( "HP:0009410") AnnotationAssertion(rdfs:label "Absent epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93513,7 +93506,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024382") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of middle finger bone") AnnotationAssertion( "HP:0009411") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93526,7 +93519,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024381") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of middle finger bone") AnnotationAssertion( "HP:0009412") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93539,7 +93532,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024380") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of middle finger bone") AnnotationAssertion( "HP:0009413") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93552,7 +93545,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024379") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of middle finger bone") AnnotationAssertion( "HP:0009414") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93565,7 +93558,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024378") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of middle finger bone") AnnotationAssertion( "HP:0009415") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93578,7 +93571,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024377") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle finger bone") AnnotationAssertion( "HP:0009416") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93606,7 +93599,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024376") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of middle finger bone") AnnotationAssertion( "HP:0009418") AnnotationAssertion(rdfs:label "Small epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93619,7 +93612,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4024375") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of middle finger bone") AnnotationAssertion( "HP:0009419") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93633,7 +93626,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-14T02:01:59Z") AnnotationAssertion( "UMLS:C4021479") AnnotationAssertion( "Delta-shaped epiphyses of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of middle finger bone") AnnotationAssertion( "HP:0009420") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -93645,8 +93638,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-14T03:16:46Z") AnnotationAssertion( "UMLS:C4024374") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost middle finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost middle finger bone") AnnotationAssertion( "HP:0009421") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93659,7 +93652,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:16:46Z") AnnotationAssertion( "UMLS:C4024373") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of middle finger") AnnotationAssertion( "HP:0009422") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93673,7 +93666,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:16:46Z") AnnotationAssertion( "UMLS:C4024372") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the middle finger") AnnotationAssertion( "HP:0009423") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93702,7 +93695,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:16:46Z") AnnotationAssertion( "UMLS:C4024371") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 3rd finger") AnnotationAssertion( "HP:0009425") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93719,7 +93712,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009479") AnnotationAssertion( "HP:0009480") AnnotationAssertion( "UMLS:C4021477") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost and middle bones of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost and middle bones of middle finger") AnnotationAssertion( "Symphalangism of the distal and middle phalanges of the 3rd finger") AnnotationAssertion( "HP:0009426") AnnotationAssertion(rdfs:label "Distal/middle symphalangism of 3rd finger") @@ -93734,7 +93727,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:16:46Z") AnnotationAssertion( "UMLS:C4024370") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the middle finger") AnnotationAssertion( "HP:0009427") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93748,7 +93741,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:16:46Z") AnnotationAssertion( "UMLS:C4024369") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the 3rd finger") AnnotationAssertion( "HP:0009428") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93762,7 +93755,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:18:42Z") AnnotationAssertion( "UMLS:C4024368") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009429") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93777,7 +93770,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "HP:0004178") AnnotationAssertion( "UMLS:C4021476") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of middle finger") AnnotationAssertion( "Wide/broad middle phalanx of middle-finger") AnnotationAssertion( "HP:0009430") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 3rd finger") @@ -93792,7 +93785,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "UMLS:C4024367") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of middle finger") AnnotationAssertion( "HP:0009431") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93806,7 +93799,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "UMLS:C4024366") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of the middle finger") AnnotationAssertion( "HP:0009432") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93833,7 +93826,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "UMLS:C4024364") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the middle finger") AnnotationAssertion( "HP:0009434") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93848,7 +93841,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "UMLS:C4024363") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of middle finger") AnnotationAssertion( "HP:0009435") AnnotationAssertion(rdfs:label "Symphalangism of middle phalanx of 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93862,7 +93855,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "UMLS:C4024362") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of the middle finger") AnnotationAssertion( "HP:0009436") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93875,8 +93868,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-14T03:41:31Z") AnnotationAssertion( "UMLS:C4024361") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of the middle finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of the middle finger") AnnotationAssertion( "HP:0009437") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93890,7 +93883,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-14T03:45:02Z") AnnotationAssertion( "HP:0004173") AnnotationAssertion( "UMLS:C4021475") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of middle finger") AnnotationAssertion( "Absent middle phalanx of middle finger") AnnotationAssertion( "Aplasia of the middle phalanx of the 3rd finger") AnnotationAssertion( "HP:0009438") @@ -93910,7 +93903,7 @@ AnnotationAssertion( "UMLS:C4021474") AnnotationAssertion( "Brachymesophalangy III (finger)") AnnotationAssertion( "Hypoplastic/small middle phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of middle finger") AnnotationAssertion( "HP:0009439") AnnotationAssertion(rdfs:label "Short middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93925,7 +93918,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-14T04:09:01Z") AnnotationAssertion( "HP:0004166") AnnotationAssertion( "UMLS:C4021473") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide bones of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide bones of middle finger") AnnotationAssertion( "Wide/broad middle finger phalanges") AnnotationAssertion( "HP:0009440") AnnotationAssertion(rdfs:label "Broad phalanges of the 3rd finger") @@ -93939,7 +93932,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:09:01Z") AnnotationAssertion( "UMLS:C4024360") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of middle finger") AnnotationAssertion( "HP:0009441") AnnotationAssertion(rdfs:label "Bullet-shaped phalanges of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93952,7 +93945,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:09:01Z") AnnotationAssertion( "UMLS:C4024359") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of middle finger") AnnotationAssertion( "HP:0009442") AnnotationAssertion(rdfs:label "Curved phalanges of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93983,7 +93976,7 @@ AnnotationAssertion( "UMLS:C4021471") AnnotationAssertion( "Patchy sclerosis of middle finger phalanges") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in middle finger bone") AnnotationAssertion( "HP:0009444") AnnotationAssertion(rdfs:label "Patchy sclerosis of 3rd finger phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -93996,7 +93989,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:09:01Z") AnnotationAssertion( "UMLS:C4024358") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle finger") AnnotationAssertion( "HP:0009445") AnnotationAssertion(rdfs:label "Symphalangism of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94010,7 +94003,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:09:01Z") AnnotationAssertion( "UMLS:C4024357") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of the middle finger") AnnotationAssertion( "HP:0009446") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94027,8 +94020,8 @@ AnnotationAssertion( "HP:0004165") AnnotationAssertion( "HP:0009449") AnnotationAssertion( "UMLS:C4024356") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle finger bone") AnnotationAssertion( "Hypoplastic middle finger phalanges") AnnotationAssertion( "Short middle finger phalanges") AnnotationAssertion( "Small middle finger phalanges") @@ -94058,7 +94051,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:33:41Z") AnnotationAssertion( "UMLS:C4024355") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of middle finger") AnnotationAssertion( "HP:0009450") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94072,7 +94065,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:33:41Z") AnnotationAssertion( "UMLS:C4024354") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of the middle finger") AnnotationAssertion( "HP:0009451") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94086,7 +94079,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:33:41Z") AnnotationAssertion( "UMLS:C4024353") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of middle finger") AnnotationAssertion( "HP:0009452") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94113,7 +94106,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:33:41Z") AnnotationAssertion( "UMLS:C4024351") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the middle finger") AnnotationAssertion( "HP:0009454") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94128,7 +94121,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:33:41Z") AnnotationAssertion( "UMLS:C4024350") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of middle finger") AnnotationAssertion( "HP:0009455") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94142,7 +94135,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:33:41Z") AnnotationAssertion( "UMLS:C4024349") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of middle finger") AnnotationAssertion( "HP:0009456") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94155,8 +94148,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-14T04:34:45Z") AnnotationAssertion( "UMLS:C4024348") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost bone of middle finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost bone of middle finger") AnnotationAssertion( "HP:0009457") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94169,7 +94162,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:35:28Z") AnnotationAssertion( "UMLS:C4024347") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of middle finger") AnnotationAssertion( "HP:0009458") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94186,7 +94179,7 @@ AnnotationAssertion( "HP:0004170") AnnotationAssertion( "UMLS:C4021470") AnnotationAssertion( "Hypoplastic/small proximal phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of middle finger") AnnotationAssertion( "Short proximal middle-finger phalanx") AnnotationAssertion( "Short proximal phalanx of the third finger") AnnotationAssertion( "Small proximal middle-finger phalanx") @@ -94203,7 +94196,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-14T04:56:33Z") AnnotationAssertion( "UMLS:C4024346") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle finger") AnnotationAssertion( "HP:0009460") AnnotationAssertion(rdfs:label "Aplasia of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94218,8 +94211,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004154") AnnotationAssertion( "UMLS:C4021469") AnnotationAssertion( "Hypoplastic/small 3rd finger") -AnnotationAssertion(Annotation( ) "Short 3rd finger") -AnnotationAssertion(Annotation( ) "Short middle finger") +AnnotationAssertion(Annotation( ) "Short 3rd finger") +AnnotationAssertion(Annotation( ) "Short middle finger") AnnotationAssertion( "HP:0009461") AnnotationAssertion(rdfs:label "Short 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94232,7 +94225,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-15T09:35:10Z") AnnotationAssertion( "UMLS:C4024345") -AnnotationAssertion(Annotation( ) Annotation( ) "Inward turned middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Inward turned middle finger") AnnotationAssertion( "HP:0009462") AnnotationAssertion(rdfs:label "Radial deviation of the 3rd finger") SubClassOf( ) @@ -94281,7 +94274,7 @@ AnnotationAssertion( "SNOMEDCT_US:276662009") AnnotationAssertion( "SNOMEDCT_US:367510009") AnnotationAssertion( "UMLS:C0231679") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Finger bends toward pinky") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Finger bends toward pinky") AnnotationAssertion( "Ulnar Drift") AnnotationAssertion( "HP:0009465") AnnotationAssertion( ) @@ -94329,7 +94322,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004101") AnnotationAssertion( "UMLS:C4021468") AnnotationAssertion( "Deviated index finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Displaced index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Displaced index finger") AnnotationAssertion( "HP:0009468") AnnotationAssertion(rdfs:label "Deviation of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94342,7 +94335,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-15T09:50:20Z") AnnotationAssertion( "UMLS:C4024344") -AnnotationAssertion(Annotation( ) Annotation( ) "Contracture of the outermost hinge joint of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Contracture of the outermost hinge joint of the 3rd finger") AnnotationAssertion( "HP:0009469") AnnotationAssertion(rdfs:label "Contracture of the distal interphalangeal joint of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94411,7 +94404,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-15T10:24:03Z") AnnotationAssertion( "HP:0009476") AnnotationAssertion( "UMLS:C4024342") -AnnotationAssertion(Annotation( ) "Fused innermost and middle bone of fourth finger") +AnnotationAssertion(Annotation( ) "Fused innermost and middle bone of fourth finger") AnnotationAssertion( "HP:0009477") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94425,7 +94418,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-15T10:24:03Z") AnnotationAssertion( "UMLS:C4024341") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of ring finger with 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of ring finger with 4th long bone of hand") AnnotationAssertion( "HP:0009478") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94440,7 +94433,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-15T10:29:08Z") AnnotationAssertion( "HP:0009481") AnnotationAssertion( "UMLS:C4024340") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused of innermost and middle bones of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused of innermost and middle bones of middle finger") AnnotationAssertion( "HP:0009482") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94454,7 +94447,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-15T10:29:08Z") AnnotationAssertion( "UMLS:C4024339") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of middle finger with middle long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of middle finger with middle long bone of hand") AnnotationAssertion( "HP:0009483") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -94468,7 +94461,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-15T10:45:01Z") AnnotationAssertion( "UMLS:C4024338") -AnnotationAssertion(Annotation( ) Annotation( ) "Displaced hand or fingers of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Displaced hand or fingers of the hand") AnnotationAssertion( "HP:0009484") AnnotationAssertion(rdfs:label "Deviation of the hand or of fingers of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectUnionOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( )))) @@ -94520,7 +94513,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024336") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of index finger") AnnotationAssertion( "HP:0009488") AnnotationAssertion(rdfs:label "Absent epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94534,7 +94527,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "HP:0004109") AnnotationAssertion( "UMLS:C4021466") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of index finger") AnnotationAssertion( "Bracket-epiphyses of index finger") AnnotationAssertion( "HP:0009489") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 2nd finger") @@ -94548,7 +94541,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024335") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the index finger") AnnotationAssertion( "HP:0009490") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94561,7 +94554,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024334") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the index finger") AnnotationAssertion( "HP:0009491") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94574,7 +94567,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024333") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the index finger") AnnotationAssertion( "HP:0009492") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94587,7 +94580,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024332") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the index finger") AnnotationAssertion( "HP:0009493") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94600,7 +94593,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024331") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the index finger bone") AnnotationAssertion( "HP:0009494") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94629,7 +94622,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024330") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the index finger") AnnotationAssertion( "HP:0009496") AnnotationAssertion(rdfs:label "Small epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94642,7 +94635,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024329") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the index finger") AnnotationAssertion( "HP:0009497") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94655,7 +94648,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:07:16Z") AnnotationAssertion( "UMLS:C4024328") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the index finger") AnnotationAssertion( "HP:0009498") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94668,7 +94661,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:08:35Z") AnnotationAssertion( "HP:0004146") AnnotationAssertion( "UMLS:C4021464") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the index finger") AnnotationAssertion( "Epiphyseal abnormality of terminal index finger phalanx") AnnotationAssertion( "HP:0009499") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 2nd finger") @@ -94683,7 +94676,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:08:35Z") AnnotationAssertion( "HP:0004135") AnnotationAssertion( "UMLS:C4021463") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of the middle bone of the index finger") AnnotationAssertion( "Epiphyseal abnormality of middle phalanx of the 2nd finger") AnnotationAssertion( "HP:0009500") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 2nd finger") @@ -94713,7 +94706,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "HP:0004147") AnnotationAssertion( "UMLS:C4021461") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the index finger") AnnotationAssertion( "Absent ossification/absent epiphysis of terminal index finger phalanx") AnnotationAssertion( "HP:0009502") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 2nd finger") @@ -94728,7 +94721,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024327") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009503") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94742,7 +94735,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024326") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009504") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94756,7 +94749,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024325") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009505") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94770,7 +94763,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024324") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009506") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94784,7 +94777,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024323") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009507") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94799,7 +94792,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "HP:0004148") AnnotationAssertion( "UMLS:C4021460") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the index finger") AnnotationAssertion( "Ivory epiphysis of terminal index finger phalanx") AnnotationAssertion( "HP:0009508") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 2nd finger") @@ -94827,7 +94820,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024321") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009510") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94841,7 +94834,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024320") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009511") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94855,7 +94848,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:11:04Z") AnnotationAssertion( "UMLS:C4024319") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the index finger") AnnotationAssertion( "HP:0009512") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94870,7 +94863,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004136") AnnotationAssertion( "UMLS:C4021459") AnnotationAssertion( "Absent epiphyses of middle phalanx of index finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing end part of the middle long bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing end part of the middle long bone of the index finger") AnnotationAssertion( "HP:0009513") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94884,7 +94877,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024318") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle long bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle long bone of the index finger") AnnotationAssertion( "HP:0009514") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94898,7 +94891,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "HP:0004137") AnnotationAssertion( "UMLS:C4021458") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle long bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle long bone of the index finger") AnnotationAssertion( "Cone-shaped epiphyses of middle phalanx of index finger") AnnotationAssertion( "HP:0009515") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 2nd finger") @@ -94912,7 +94905,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024317") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the index finger") AnnotationAssertion( "HP:0009516") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94925,7 +94918,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024316") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle long bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of the middle long bone of the index finger") AnnotationAssertion( "HP:0009517") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94938,7 +94931,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024315") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle long bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle long bone of the index finger") AnnotationAssertion( "HP:0009518") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94951,7 +94944,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024314") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the index finger") AnnotationAssertion( "HP:0009519") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94977,7 +94970,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024312") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost long bone of index finger") AnnotationAssertion( "HP:0009521") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -94990,7 +94983,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024311") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the middle bone of the index finger") AnnotationAssertion( "HP:0009522") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95003,7 +94996,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:17Z") AnnotationAssertion( "UMLS:C4024310") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the index finger") AnnotationAssertion( "HP:0009523") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95016,7 +95009,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "UMLS:C4024309") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of innermost long bone of index finger") AnnotationAssertion( "HP:0009524") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95032,7 +95025,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004120") AnnotationAssertion( "UMLS:C4021457") AnnotationAssertion( "Bracket epiphyses of proximal index finger phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of innermost long bone of index finger") AnnotationAssertion( "HP:0009525") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95046,7 +95039,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "HP:0004128") AnnotationAssertion( "UMLS:C4021456") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of innermost long bone of index finger") AnnotationAssertion( "Cone-shaped epiphysis of proximal index finger phalanx") AnnotationAssertion( "HP:0009526") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 2nd finger") @@ -95061,7 +95054,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "HP:0004129") AnnotationAssertion( "UMLS:C4021455") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of innermost long bone of index finger") AnnotationAssertion( "Large epiphysis of proximal index finger phalanx") AnnotationAssertion( "HP:0009527") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 2nd finger") @@ -95075,7 +95068,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "UMLS:C4024308") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of innermost long bone of index finger") AnnotationAssertion( "HP:0009528") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95088,7 +95081,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "UMLS:C4024307") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of innermost long bone of index finger") AnnotationAssertion( "HP:0009529") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95101,7 +95094,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "UMLS:C4024306") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the index finger") AnnotationAssertion( "HP:0009530") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95127,7 +95120,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "UMLS:C4024304") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of proximal long bond of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of proximal long bond of index finger") AnnotationAssertion( "HP:0009532") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95140,7 +95133,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "UMLS:C4024303") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innermost long bone of index finger") AnnotationAssertion( "HP:0009533") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -95154,7 +95147,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-16T01:12:34Z") AnnotationAssertion( "HP:0004130") AnnotationAssertion( "UMLS:C4021454") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of innermost long bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of innermost long bone of index finger") AnnotationAssertion( "Triangular epiphysis of proximal index finger phalanx") AnnotationAssertion( "HP:0009534") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 2nd finger") @@ -95170,7 +95163,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-19T04:18:22Z") AnnotationAssertion( "HP:0004106") AnnotationAssertion( "UMLS:C4021453") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent index finger") AnnotationAssertion( "Absent index finger phalanges") AnnotationAssertion( "Aplasia of the index finger") AnnotationAssertion( "HP:0009535") @@ -95191,9 +95184,9 @@ AnnotationAssertion( "UMLS:C1862142") AnnotationAssertion( "Hypoplastic index finger phalanges") AnnotationAssertion( "Hypoplastic/small index finger") -AnnotationAssertion(Annotation( ) "Short index finger") +AnnotationAssertion(Annotation( ) "Short index finger") AnnotationAssertion( "Short index finger phalanges") -AnnotationAssertion(Annotation( ) "Short index fingers") +AnnotationAssertion(Annotation( ) "Short index fingers") AnnotationAssertion( "HP:0009536") AnnotationAssertion(rdfs:label "Short 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95258,7 +95251,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:15:07Z") AnnotationAssertion( "HP:0004105") AnnotationAssertion( "UMLS:C4021450") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal index finger bones") AnnotationAssertion( "Abnormality of 2nd finger phalanges") AnnotationAssertion( "HP:0009541") AnnotationAssertion(rdfs:label "Abnormality of the phalanges of the 2nd finger") @@ -95273,7 +95266,7 @@ AnnotationAssertion( "HP:0004140") AnnotationAssertion( "UMLS:C4021449") AnnotationAssertion( "Abnormality of terminal index finger phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 2nd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 2nd finger") AnnotationAssertion( "HP:0009542") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95285,7 +95278,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:17:15Z") AnnotationAssertion( "HP:0004131") AnnotationAssertion( "UMLS:C4021448") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle index finger bone") AnnotationAssertion( "Abnormality of middle 2nd finger phalanx") AnnotationAssertion( "HP:0009543") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 2nd finger") @@ -95298,7 +95291,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:17:15Z") AnnotationAssertion( "HP:0004119") AnnotationAssertion( "UMLS:C4021447") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost index finger bone") AnnotationAssertion( "Abnormality of the proximal 2nd finger phalanx") AnnotationAssertion( "HP:0009544") AnnotationAssertion(rdfs:label "Abnormality of the proximal phalanx of the 2nd finger") @@ -95311,7 +95304,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:19:34Z") AnnotationAssertion( "HP:0004116") AnnotationAssertion( "UMLS:C4021446") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused index finger bones") AnnotationAssertion( "Symphalangism of index finger phalanges") AnnotationAssertion( "HP:0009545") AnnotationAssertion(rdfs:label "Symphalangism of the 2nd finger") @@ -95327,7 +95320,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:19:34Z") AnnotationAssertion( "HP:0004117") AnnotationAssertion( "UMLS:C4021445") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular bones of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular bones of index finger") AnnotationAssertion( "Triangular index finger phalanges") AnnotationAssertion( "HP:0009546") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 2nd finger") @@ -95340,7 +95333,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:19:34Z") AnnotationAssertion( "HP:0004118") AnnotationAssertion( "UMLS:C4021444") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide index finger bones") AnnotationAssertion( "Wide/broad index finger phalanges") AnnotationAssertion( "HP:0009547") AnnotationAssertion(rdfs:label "Broad phalanges of the 2nd finger") @@ -95354,7 +95347,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-21T10:20:26Z") AnnotationAssertion( "UMLS:C4024300") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped index finger bones") AnnotationAssertion( "HP:0009548") AnnotationAssertion(rdfs:label "Bullet-shaped phalanges of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95365,7 +95358,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-21T10:20:26Z") AnnotationAssertion( "UMLS:C4024299") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved index finger bones") AnnotationAssertion( "HP:0009549") AnnotationAssertion(rdfs:label "Curved phalanges of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95393,7 +95386,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T10:20:26Z") AnnotationAssertion( "UMLS:C4021442") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 2nd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in index finger bone") AnnotationAssertion( "HP:0009551") AnnotationAssertion(rdfs:label "Patchy sclerosis of 2nd finger phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95405,8 +95398,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-21T10:20:26Z") AnnotationAssertion( "UMLS:C4024298") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small index finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped index finger bone") AnnotationAssertion( "HP:0009552") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95419,7 +95412,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-21T05:19:14Z") AnnotationAssertion( "UMLS:C4024297") -AnnotationAssertion(Annotation( ) "Abnormality of the hairline") +AnnotationAssertion(Annotation( ) "Abnormality of the hairline") AnnotationAssertion( "HP:0009553") AnnotationAssertion(rdfs:label "Abnormality of the hairline") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95433,8 +95426,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-21T05:21:54Z") AnnotationAssertion( "UMLS:C4024296") AnnotationAssertion( "Hair displacement, preauricular, towards lateral cheekbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Hair growing down to cheek") -AnnotationAssertion(Annotation( ) "Projection of scalp hair onto lateral cheek") +AnnotationAssertion(Annotation( ) Annotation( ) "Hair growing down to cheek") +AnnotationAssertion(Annotation( ) "Projection of scalp hair onto lateral cheek") AnnotationAssertion( "HP:0009554") AnnotationAssertion(rdfs:label "Preauricular hair displacement") SubClassOf( ) @@ -95469,8 +95462,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-27T06:09:44Z") AnnotationAssertion( "UMLS:C3276744") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent shinbone") AnnotationAssertion( "Aplasia of the tibia") AnnotationAssertion( "HP:0009556") AnnotationAssertion( ) @@ -95484,8 +95477,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-28T04:16:02Z") AnnotationAssertion( "UMLS:C4024294") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost index finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost index finger bone") AnnotationAssertion( "HP:0009557") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95498,7 +95491,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T04:16:02Z") AnnotationAssertion( "UMLS:C4024293") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the index finger") AnnotationAssertion( "HP:0009558") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95512,7 +95505,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T04:16:02Z") AnnotationAssertion( "UMLS:C4024292") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the index finger") AnnotationAssertion( "HP:0009559") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95526,7 +95519,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T04:16:02Z") AnnotationAssertion( "UMLS:C4024291") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the index finger") AnnotationAssertion( "HP:0009560") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95558,7 +95551,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T04:16:02Z") AnnotationAssertion( "UMLS:C4024290") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 2nd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 2nd finger") AnnotationAssertion( "HP:0009562") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95575,7 +95568,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009567") AnnotationAssertion( "HP:0009578") AnnotationAssertion( "UMLS:C4021440") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost and middle index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost and middle index finger bones") AnnotationAssertion( "Symphalangism of the distal and middle phalanges of the 2nd finger") AnnotationAssertion( "HP:0009563") AnnotationAssertion(rdfs:label "Distal/middle symphalangism of 2nd finger") @@ -95590,7 +95583,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T04:16:02Z") AnnotationAssertion( "UMLS:C4024289") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the 2nd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the 2nd finger") AnnotationAssertion( "HP:0009564") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95605,7 +95598,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004141") AnnotationAssertion( "HP:0005748") AnnotationAssertion( "UMLS:C4021439") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost index finger bone") AnnotationAssertion( "Absent terminal index finger phalanx") AnnotationAssertion( "HP:0009565") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the 2nd finger") @@ -95624,7 +95617,7 @@ AnnotationAssertion( "Hypoplastic terminal index finger phalanx") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 2nd finger") AnnotationAssertion( "Short distal phalanx of the second finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the index finger") AnnotationAssertion( "Short terminal index finger phalanx") AnnotationAssertion( "HP:0009566") AnnotationAssertion(rdfs:label "Short distal phalanx of the 2nd finger") @@ -95640,8 +95633,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006221") AnnotationAssertion( "UMLS:C1862144") AnnotationAssertion( "Absent/hypoplastic middle phalanx of 2nd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle index finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle index finger bone") AnnotationAssertion( "Hypoplastic/aplastic middle phalanx of index finger") AnnotationAssertion( "HP:0009568") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 2nd finger") @@ -95655,7 +95648,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:10:24Z") AnnotationAssertion( "UMLS:C4024288") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the index finger") AnnotationAssertion( "HP:0009569") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95669,7 +95662,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:10:24Z") AnnotationAssertion( "UMLS:C4024287") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of index finger") AnnotationAssertion( "HP:0009570") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95683,7 +95676,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:10:24Z") AnnotationAssertion( "UMLS:C4024286") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of the index finger") AnnotationAssertion( "HP:0009571") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95712,7 +95705,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:10:24Z") AnnotationAssertion( "UMLS:C4024285") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the index finger") AnnotationAssertion( "HP:0009573") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95727,7 +95720,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:10:24Z") AnnotationAssertion( "UMLS:C4024284") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of index finger") AnnotationAssertion( "HP:0009574") AnnotationAssertion(rdfs:label "Symphalangism of middle phalanx of 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95741,7 +95734,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:10:24Z") AnnotationAssertion( "UMLS:C4024283") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of index finger") AnnotationAssertion( "HP:0009575") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95756,7 +95749,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-28T05:15:55Z") AnnotationAssertion( "HP:0005760") AnnotationAssertion( "UMLS:C4021436") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of index finger") AnnotationAssertion( "Absent middle phalanx of index finger") AnnotationAssertion( "Aplasia of the middle phalanx of the 2nd finger") AnnotationAssertion( "HP:0009576") @@ -95776,7 +95769,7 @@ AnnotationAssertion( "Brachymesophalangy II (finger)") AnnotationAssertion( "Hypoplastic middle index finger phalanx") AnnotationAssertion( "Hypoplastic/small middle phalanx of the 2nd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of index finger") AnnotationAssertion( "HP:0009577") AnnotationAssertion(rdfs:label "Short middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95790,7 +95783,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:23:12Z") AnnotationAssertion( "UMLS:C4024282") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle index finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle index finger bones") AnnotationAssertion( "HP:0009579") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95803,8 +95796,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-28T05:26:39Z") AnnotationAssertion( "UMLS:C4024281") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost index finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost index finger bone") AnnotationAssertion( "HP:0009580") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95818,7 +95811,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-28T05:26:39Z") AnnotationAssertion( "HP:0004126") AnnotationAssertion( "UMLS:C4021434") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost bone of index finger") AnnotationAssertion( "Wide/broad proximal index finger phalanx") AnnotationAssertion( "HP:0009581") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 2nd finger") @@ -95833,7 +95826,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:26:39Z") AnnotationAssertion( "UMLS:C4024280") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of index finger") AnnotationAssertion( "HP:0009582") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95847,7 +95840,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:26:39Z") AnnotationAssertion( "UMLS:C4024279") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of index finger") AnnotationAssertion( "HP:0009583") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95876,7 +95869,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:26:39Z") AnnotationAssertion( "UMLS:C4024278") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in innermost index finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in innermost index finger bone") AnnotationAssertion( "HP:0009585") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95891,7 +95884,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-28T05:26:39Z") AnnotationAssertion( "UMLS:C4024277") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of index finger") AnnotationAssertion( "HP:0009586") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -95907,7 +95900,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004125") AnnotationAssertion( "UMLS:C4021432") AnnotationAssertion( "Triangular proximal index finger phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of index finger") AnnotationAssertion( "HP:0009587") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96026,7 +96019,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T10:19:36Z") AnnotationAssertion( "UMLS:C4024275") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of index finger") AnnotationAssertion( "HP:0009596") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96057,7 +96050,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T10:21:45Z") AnnotationAssertion( "UMLS:C4024274") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of index finger with 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of index finger with 2nd long bone of hand") AnnotationAssertion( "HP:0009598") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96072,7 +96065,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T11:46:15Z") AnnotationAssertion( "HP:0004074") AnnotationAssertion( "UMLS:C4021429") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of thumb long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of thumb long bone") AnnotationAssertion( "Abnormality of the epiphyses of the thumb") AnnotationAssertion( "Abnormality of thumb epiphyses") AnnotationAssertion( "HP:0009599") @@ -96112,8 +96105,8 @@ AnnotationAssertion( "Absent or hypoplastic thumbs") AnnotationAssertion( "Absent/hypoplastic thumb") AnnotationAssertion( "Absent/hypoplastic thumbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thumb") AnnotationAssertion( "Aplasia/hypoplasia of thumbs") AnnotationAssertion( "Aplastic/hypoplastic thumbs") AnnotationAssertion( "Hypoplastic to aplastic thumbs") @@ -96133,7 +96126,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004063") AnnotationAssertion( "HP:0004064") AnnotationAssertion( "UMLS:C4021428") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the thumb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the thumb bones") AnnotationAssertion( "Abnormality of thumb phalanges") AnnotationAssertion( "HP:0009602") AnnotationAssertion(rdfs:label "Abnormality of thumb phalanx") @@ -96147,7 +96140,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T01:49:57Z") AnnotationAssertion( "HP:0004062") AnnotationAssertion( "UMLS:C3552414") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thumb placement") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thumb placement") AnnotationAssertion( "Deviated thumb") AnnotationAssertion( "Displacement of the thumb") AnnotationAssertion( "HP:0009603") @@ -96164,7 +96157,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004084") AnnotationAssertion( "HP:0005784") AnnotationAssertion( "UMLS:C4021427") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of outermost bone of the thumb") AnnotationAssertion( "HP:0009606") AnnotationAssertion(rdfs:label "Complete duplication of distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96179,7 +96172,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T03:32:28Z") AnnotationAssertion( "HP:0004078") AnnotationAssertion( "UMLS:C4024273") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the thumb") AnnotationAssertion( "HP:0009608") AnnotationAssertion(rdfs:label "Complete duplication of proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96193,7 +96186,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T03:33:31Z") AnnotationAssertion( "UMLS:C4021426") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the 1st long bone of hand") AnnotationAssertion( "Partial/complete duplication of the 1st metacarpal") AnnotationAssertion( "HP:0009609") AnnotationAssertion(rdfs:comment "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side.") @@ -96217,7 +96210,7 @@ AnnotationAssertion( "Bifid terminal phalanges of thumbs") AnnotationAssertion( "Bifid thumb distal phalanx") AnnotationAssertion( "Incipient distal thumb phalanx duplication") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the thumb") AnnotationAssertion( "Notched outermost bone of thumb") AnnotationAssertion( "Notched terminal thumb phalanx") AnnotationAssertion( "HP:0009611") @@ -96238,7 +96231,7 @@ AnnotationAssertion( "Duplicated terminal phalanx of thumb") AnnotationAssertion( "Duplication of distal thumb phalanx") AnnotationAssertion( "Duplication of terminal thumb phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the thumb") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the thumb") AnnotationAssertion( "HP:0009612") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the thumb") @@ -96253,7 +96246,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T03:59:56Z") AnnotationAssertion( "UMLS:C4021424") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched innermost bone of thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched innermost bone of thumb") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the thumb") AnnotationAssertion( "HP:0009613") AnnotationAssertion(rdfs:label "Duplication of the proximal phalanx of the thumb") @@ -96268,7 +96261,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T04:01:27Z") AnnotationAssertion( "UMLS:C4024272") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched thumb bone") AnnotationAssertion( "HP:0009614") AnnotationAssertion(rdfs:label "Bifid proximal phalanx of the thumb") SubClassOf( ) @@ -96281,7 +96274,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T04:06:17Z") AnnotationAssertion( "UMLS:C4024271") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the first long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the first long bone of hand") AnnotationAssertion( "HP:0009615") AnnotationAssertion(rdfs:comment "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated.") AnnotationAssertion(rdfs:label "Complete duplication of the first metacarpal") @@ -96295,7 +96288,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T04:06:17Z") AnnotationAssertion( "UMLS:C4021423") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched first long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched first long bone of hand") AnnotationAssertion( "partial duplication of the first metacarpal") AnnotationAssertion( "HP:0009616") AnnotationAssertion(rdfs:comment "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape.") @@ -96312,7 +96305,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004081") AnnotationAssertion( "UMLS:C4021422") AnnotationAssertion( "Abnormality of terminal thumb phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the thumb") AnnotationAssertion( "HP:0009617") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96325,7 +96318,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T04:13:47Z") AnnotationAssertion( "HP:0004076") AnnotationAssertion( "UMLS:C4021421") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost thumb bone") AnnotationAssertion( "Abnormality of proximal thumb phalanx") AnnotationAssertion( "HP:0009618") AnnotationAssertion(Annotation( ) rdfs:comment "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.") @@ -96366,7 +96359,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0001170") AnnotationAssertion( "HP:0005668") AnnotationAssertion( "UMLS:C1865572") -AnnotationAssertion(Annotation( ) Annotation( ) "Attachment of thumb close to wrist") +AnnotationAssertion(Annotation( ) Annotation( ) "Attachment of thumb close to wrist") AnnotationAssertion( "Low implantation of the thumb") AnnotationAssertion( "Low-set thumb") AnnotationAssertion( "Proximally placed thumbs") @@ -96422,8 +96415,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "UMLS:C4024268") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost thumb bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost thumb bone") AnnotationAssertion( "HP:0009629") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96436,7 +96429,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "UMLS:C4024267") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost thumb bone") AnnotationAssertion( "HP:0009630") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96451,7 +96444,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "UMLS:C4024266") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost thumb bone") AnnotationAssertion( "HP:0009631") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96465,7 +96458,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "UMLS:C4024265") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost thumb bone") AnnotationAssertion( "HP:0009632") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96494,7 +96487,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "UMLS:C4024264") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost thumb bone") AnnotationAssertion( "HP:0009634") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96509,7 +96502,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "UMLS:C4024263") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of thumb bone") AnnotationAssertion( "HP:0009635") AnnotationAssertion(rdfs:label "Synostosis of thumb phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96523,7 +96516,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:09:41Z") AnnotationAssertion( "HP:0004080") AnnotationAssertion( "UMLS:C4021419") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular innermost thumb bone") AnnotationAssertion( "Triangular proximal thumb phalanx") AnnotationAssertion( "HP:0009636") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the thumb") @@ -96539,7 +96532,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:11:02Z") AnnotationAssertion( "HP:0004077") AnnotationAssertion( "UMLS:C4021418") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost thumb bone") AnnotationAssertion( "Absent ossification/absent proximal thumb phalanx") AnnotationAssertion( "Aplasia of the proximal phalanx of the thumb") AnnotationAssertion( "HP:0009637") @@ -96576,7 +96569,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:17:08Z") AnnotationAssertion( "UMLS:C4024262") AnnotationAssertion( "Ankylosis of the metacarpophalangeal joint of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of the innermost bone of the thumb with the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of the innermost bone of the thumb with the 1st long bone of hand") AnnotationAssertion( "HP:0009640") AnnotationAssertion(rdfs:label "Synostosis of the proximal phalanx of the thumb with the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96590,8 +96583,8 @@ SubClassOf( ) AnnotationAssertion( "2009-01-29T05:19:33Z") AnnotationAssertion( "UMLS:C4024261") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost thumb bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost thumb bone") AnnotationAssertion( "HP:0009641") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the thumb") SubClassOf( ) @@ -96604,10 +96597,10 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004088") AnnotationAssertion( "HP:0006198") AnnotationAssertion( "UMLS:C1863402") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the thumb") AnnotationAssertion( "Broad terminal thumb phalanx") AnnotationAssertion( "Wide distal phalanx of thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of thumb") AnnotationAssertion( "HP:0009642") AnnotationAssertion(rdfs:label "Broad distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96621,7 +96614,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:19:33Z") AnnotationAssertion( "UMLS:C4024260") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the thumb") AnnotationAssertion( "HP:0009643") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96635,7 +96628,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:19:33Z") AnnotationAssertion( "UMLS:C4024259") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the thumb") AnnotationAssertion( "HP:0009644") AnnotationAssertion(rdfs:label "Curved distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96664,7 +96657,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:19:33Z") AnnotationAssertion( "UMLS:C4024258") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the thumb") AnnotationAssertion( "HP:0009646") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96679,7 +96672,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:19:33Z") AnnotationAssertion( "UMLS:C4024257") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the thumb") AnnotationAssertion( "HP:0009648") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the thumb") SubClassOf( ) @@ -96693,7 +96686,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:22:06Z") AnnotationAssertion( "HP:0004082") AnnotationAssertion( "UMLS:C4021416") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the outermost bone of the thumb") AnnotationAssertion( "Absent ossification/absent terminal thumb phalanx") AnnotationAssertion(Annotation( ) "Aplasia of the outermost bone of the thumb") AnnotationAssertion( "HP:0009649") @@ -96713,7 +96706,7 @@ AnnotationAssertion( "UMLS:C1862313") AnnotationAssertion( "Hypoplastic terminal thumb phalanx") AnnotationAssertion( "Hypoplastic/small distal phalanx of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the thumb") AnnotationAssertion( "Short terminal thumb phalanx") AnnotationAssertion( "Short thumb terminal phalanx") AnnotationAssertion( "Small terminal thumb phalanx") @@ -96731,7 +96724,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:29:26Z") AnnotationAssertion( "UMLS:C4021415") AnnotationAssertion( "Bullet-shaped phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped thumb bone") AnnotationAssertion( "HP:0009652") AnnotationAssertion(rdfs:label "Bullet-shaped thumb phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96745,7 +96738,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:29:26Z") AnnotationAssertion( "UMLS:C4021414") AnnotationAssertion( "Curved phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved thumb bone") AnnotationAssertion( "HP:0009653") AnnotationAssertion(rdfs:label "Curved thumb phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96774,7 +96767,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:29:26Z") AnnotationAssertion( "UMLS:C4021413") AnnotationAssertion( "Patchy sclerosis of the phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in thumb bone") AnnotationAssertion( "HP:0009655") AnnotationAssertion(rdfs:label "Patchy sclerosis of thumb phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96790,7 +96783,7 @@ AnnotationAssertion( "HP:0009639") AnnotationAssertion( "HP:0009647") AnnotationAssertion( "UMLS:C1834032") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused thumb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused thumb bones") AnnotationAssertion( "Fused thumb phalanges") AnnotationAssertion( "Symphalangism of the distal and proximal phalanges of the thumb") AnnotationAssertion( "HP:0009656") @@ -96808,7 +96801,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004072") AnnotationAssertion( "UMLS:C4021412") AnnotationAssertion( "Triangular shaped phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped thumb bone") AnnotationAssertion( "Triangular thumb phalanges") AnnotationAssertion( "HP:0009657") AnnotationAssertion(rdfs:comment "A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).") @@ -96821,8 +96814,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T05:29:26Z") AnnotationAssertion( "HP:0005834") AnnotationAssertion( "UMLS:C4024256") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thumb bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thumb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thumb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thumb bones") AnnotationAssertion( "HP:0009658") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -96837,7 +96830,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004065") AnnotationAssertion( "UMLS:C4020780") AnnotationAssertion( "UMLS:C4024255") -AnnotationAssertion(Annotation( ) "Partial absence of thumb") +AnnotationAssertion(Annotation( ) "Partial absence of thumb") AnnotationAssertion( "Aplasia of the phalanges of the thumb") AnnotationAssertion( "HP:0009659") AnnotationAssertion(rdfs:label "Partial absence of thumb") @@ -96855,7 +96848,7 @@ AnnotationAssertion( "UMLS:C4021411") AnnotationAssertion( "Hypoplastic thumb phalanges") AnnotationAssertion( "Hypoplastic/small phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Short thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short thumb bone") AnnotationAssertion( "Short thumb phalanges") AnnotationAssertion( "HP:0009660") AnnotationAssertion(rdfs:label "Short phalanx of the thumb") @@ -96871,7 +96864,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004089") AnnotationAssertion( "UMLS:C4021410") AnnotationAssertion( "Abnormality of terminal thumb epiphysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the thumb") AnnotationAssertion( "HP:0009662") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96885,7 +96878,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-29T05:49:31Z") AnnotationAssertion( "UMLS:C4024254") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of thumb innermost long bone") AnnotationAssertion( "HP:0009663") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96899,7 +96892,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024253") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of thumb innermost long bone") AnnotationAssertion( "HP:0009664") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96913,7 +96906,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024252") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of thumb innermost long bone") AnnotationAssertion( "HP:0009665") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96927,7 +96920,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024251") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of thumb innermost long bone") AnnotationAssertion( "HP:0009666") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96941,7 +96934,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024250") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of thumb innermost long bone") AnnotationAssertion( "HP:0009667") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96955,7 +96948,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024249") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of thumb innermost long bone") AnnotationAssertion( "HP:0009668") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96969,7 +96962,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024248") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of thumb innermost long bone") AnnotationAssertion( "HP:0009669") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -96983,7 +96976,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024247") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the thumb") AnnotationAssertion( "HP:0009670") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97010,7 +97003,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024245") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of thumb innermost long bone") AnnotationAssertion( "HP:0009672") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97024,7 +97017,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024244") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of thumb innermost long bone") AnnotationAssertion( "HP:0009673") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97038,7 +97031,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:17:13Z") AnnotationAssertion( "UMLS:C4024243") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of thumb innermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of thumb innermost long bone") AnnotationAssertion( "HP:0009674") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97052,7 +97045,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024242") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of thumb outermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of thumb outermost long bone") AnnotationAssertion( "HP:0009675") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97066,7 +97059,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024241") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of thumb outermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of thumb outermost long bone") AnnotationAssertion( "HP:0009676") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97081,7 +97074,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "HP:0004091") AnnotationAssertion( "UMLS:C4021409") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of thumb outermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of thumb outermost long bone") AnnotationAssertion( "Cone-shaped terminal thumb phalanx epiphysis") AnnotationAssertion( "HP:0009677") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the thumb") @@ -97097,7 +97090,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "HP:0004092") AnnotationAssertion( "UMLS:C4021408") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of thumb outermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of thumb outermost long bone") AnnotationAssertion( "Large terminal thumb phalanx epiphysis") AnnotationAssertion( "HP:0009678") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the thumb") @@ -97112,7 +97105,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024240") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part thumb outermost long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part thumb outermost long bone") AnnotationAssertion( "HP:0009679") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97126,7 +97119,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024239") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of thumb outermost bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of thumb outermost bone") AnnotationAssertion( "HP:0009680") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97140,7 +97133,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024238") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the thumb") AnnotationAssertion( "HP:0009681") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97168,7 +97161,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024236") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of thumb outermost bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of thumb outermost bone") AnnotationAssertion( "HP:0009683") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97182,7 +97175,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024235") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost thumb bone") AnnotationAssertion( "HP:0009684") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97196,7 +97189,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:18:09Z") AnnotationAssertion( "UMLS:C4024234") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of thumb outermost bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of thumb outermost bone") AnnotationAssertion(Annotation( ) "Triangular epiphysis of the outermost bone of the thumb") AnnotationAssertion( "HP:0009685") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the thumb") @@ -97223,7 +97216,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4024232") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the thumb bone") AnnotationAssertion( "HP:0009687") AnnotationAssertion(rdfs:label "Bracket epiphyses of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97237,7 +97230,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "HP:0004075") AnnotationAssertion( "UMLS:C4021407") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of thumb long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of thumb long bone") AnnotationAssertion( "Cone-shaped epiphyses of the thumb") AnnotationAssertion( "Cone-shaped thumb epiphyses") AnnotationAssertion( "HP:0009688") @@ -97252,7 +97245,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4021406") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of thumb long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of thumb long bone") AnnotationAssertion( "Enlarged epiphyses of the thumb") AnnotationAssertion( "HP:0009689") AnnotationAssertion(rdfs:label "Enlarged thumb epiphysis") @@ -97266,7 +97259,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4021405") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of long bone of thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of long bone of thumb") AnnotationAssertion( "Fragmentation of the epiphyses of the thumb") AnnotationAssertion( "HP:0009690") AnnotationAssertion(rdfs:label "Fragmentation of thumb epiphysis") @@ -97280,7 +97273,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4021404") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of thumb long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of thumb long bone") AnnotationAssertion( "Irregular epiphyses of the thumb") AnnotationAssertion( "HP:0009691") AnnotationAssertion(rdfs:label "Irregular thumb epiphysis") @@ -97294,7 +97287,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4021403") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the thumb") AnnotationAssertion( "Ivory epiphyses of the thumb") AnnotationAssertion( "HP:0009692") AnnotationAssertion(rdfs:label "Ivory epiphysis of the thumb") @@ -97322,7 +97315,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4021402") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of thumb long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of thumb long bone") AnnotationAssertion( "Small epiphyses of the thumb") AnnotationAssertion( "HP:0009694") AnnotationAssertion(rdfs:label "Small thumb epiphysis") @@ -97336,7 +97329,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4021401") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of thumb bone") AnnotationAssertion( "Stippling of the epiphyses of the thumb") AnnotationAssertion( "HP:0009695") AnnotationAssertion(rdfs:label "Stippling of thumb epiphysis") @@ -97349,7 +97342,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-30T09:20:16Z") AnnotationAssertion( "UMLS:C4024231") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the thumb bone") AnnotationAssertion( "HP:0009696") AnnotationAssertion(rdfs:label "Triangular epiphyses of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -97387,7 +97380,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-30T04:12:24Z") AnnotationAssertion( "UMLS:C4021399") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused finger bones") AnnotationAssertion(Annotation( ) "Symphalangism of the hand") AnnotationAssertion( "Synostosis involving bones of the fingers") AnnotationAssertion( "HP:0009700") @@ -97404,7 +97397,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0005915") AnnotationAssertion( "HP:0006041") AnnotationAssertion( "UMLS:C4021398") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused long bones of hand") AnnotationAssertion( "Synostosis involving metacarpal bones") AnnotationAssertion( "Synostosis involving the metacarpal bones") AnnotationAssertion( "HP:0009701") @@ -97422,7 +97415,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-30T04:25:10Z") AnnotationAssertion( "HP:0001192") AnnotationAssertion( "HP:0005799") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused wrist bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused wrist bones") AnnotationAssertion( "SNOMEDCT_US:253930002") AnnotationAssertion( "UMLS:C0431863") AnnotationAssertion( "Carpal bone fusion") @@ -97447,7 +97440,7 @@ AnnotationAssertion( "HP:0010032") AnnotationAssertion( "UMLS:C4021397") AnnotationAssertion( "First metacarpophalangeal joint synostosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving 1st long bone of hand") AnnotationAssertion( "Symphalangism affecting the 1st metacarpal") AnnotationAssertion( "HP:0009703") AnnotationAssertion(rdfs:label "Synostosis involving the 1st metacarpal") @@ -97471,7 +97464,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-30T04:32:03Z") AnnotationAssertion( "UMLS:C4024228") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 2nd long bone of hand") AnnotationAssertion( "HP:0009705") AnnotationAssertion(rdfs:label "Synostosis involving the 2nd metacarpal") SubClassOf( ) @@ -97482,7 +97475,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-30T04:32:03Z") AnnotationAssertion( "UMLS:C4024227") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 3rd long bone of hand") AnnotationAssertion( "HP:0009706") AnnotationAssertion(rdfs:label "Synostosis involving the 3rd metacarpal") SubClassOf( ) @@ -97493,7 +97486,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-30T04:32:03Z") AnnotationAssertion( "UMLS:C4024226") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 4th long bone of hand") AnnotationAssertion( "HP:0009707") AnnotationAssertion(rdfs:label "Synostosis involving the 4th metacarpal") SubClassOf( ) @@ -97504,7 +97497,7 @@ SubClassOf( ) AnnotationAssertion( "2009-01-30T04:32:03Z") AnnotationAssertion( "UMLS:C4024225") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 5th long bone of hand") AnnotationAssertion( "HP:0009708") AnnotationAssertion(rdfs:label "Synostosis involving the 5th metacarpal") SubClassOf( ) @@ -97674,10 +97667,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-31T09:44:34Z") AnnotationAssertion( "UMLS:C1860711") -AnnotationAssertion(Annotation( ) "Dental enamel pits") +AnnotationAssertion(Annotation( ) "Dental enamel pits") AnnotationAssertion( "Dental enamel pitting") -AnnotationAssertion(Annotation( ) Annotation( ) "Pitting of tooth enamel") -AnnotationAssertion(Annotation( ) Annotation( ) "Tooth enamel pits") +AnnotationAssertion(Annotation( ) Annotation( ) "Pitting of tooth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Tooth enamel pits") AnnotationAssertion( "HP:0009722") AnnotationAssertion(rdfs:label "Dental enamel pits") SubClassOf( ) @@ -97728,14 +97721,14 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-31T10:41:48Z") AnnotationAssertion( "HP:0005933") -AnnotationAssertion(Annotation( ) "Kidney cancer") +AnnotationAssertion(Annotation( ) "Kidney cancer") AnnotationAssertion( "MSH:D007680") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126880001") AnnotationAssertion( "UMLS:C0022665") AnnotationAssertion( "UMLS:C1378703") AnnotationAssertion( "Neoplasia of the kidneys") -AnnotationAssertion(Annotation( ) "Renal tumors") +AnnotationAssertion(Annotation( ) "Renal tumors") AnnotationAssertion(Annotation( ) "Renal tumours") AnnotationAssertion( "Renal neoplasia") AnnotationAssertion( "HP:0009726") @@ -97948,8 +97941,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D009400") AnnotationAssertion( "SNOMEDCT_US:32916005") AnnotationAssertion( "UMLS:C0027719") -AnnotationAssertion(Annotation( ) Annotation( ) "Scarring of kidney arteries") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of kidney artiries") +AnnotationAssertion(Annotation( ) Annotation( ) "Scarring of kidney arteries") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of kidney artiries") AnnotationAssertion( "HP:0009741") AnnotationAssertion(rdfs:label "Nephrosclerosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))) ObjectSomeValuesFrom( )))) @@ -97962,7 +97955,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-31T02:02:05Z") AnnotationAssertion( "SNOMEDCT_US:249918006") AnnotationAssertion( "UMLS:C0241042") -AnnotationAssertion(Annotation( ) "Stiff shoulders") +AnnotationAssertion(Annotation( ) "Stiff shoulders") AnnotationAssertion( "HP:0009742") AnnotationAssertion(rdfs:label "Stiff shoulders") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98014,12 +98007,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-01-31T02:44:09Z") AnnotationAssertion( "UMLS:C1844810") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad septum of nose") -AnnotationAssertion(Annotation( ) "Thick nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick septum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad septum of nose") +AnnotationAssertion(Annotation( ) "Thick nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide septum of nose") AnnotationAssertion( "HP:0009746") AnnotationAssertion(rdfs:label "Thick nasal septum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98043,11 +98036,11 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004449") AnnotationAssertion( "HP:0004456") AnnotationAssertion( "UMLS:C1844573") -AnnotationAssertion(Annotation( ) "Fleshy earlobe") -AnnotationAssertion(Annotation( ) "Fleshy earlobes") -AnnotationAssertion(Annotation( ) "Large earlobe") -AnnotationAssertion(Annotation( ) "Prominent ear lobes") -AnnotationAssertion(Annotation( ) "Prominent ear lobules") +AnnotationAssertion(Annotation( ) "Fleshy earlobe") +AnnotationAssertion(Annotation( ) "Fleshy earlobes") +AnnotationAssertion(Annotation( ) "Large earlobe") +AnnotationAssertion(Annotation( ) "Prominent ear lobes") +AnnotationAssertion(Annotation( ) "Prominent ear lobules") AnnotationAssertion( "HP:0009748") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood.") @@ -98075,7 +98068,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-31T05:45:00Z") AnnotationAssertion( "UMLS:C1856027") AnnotationAssertion(Annotation( ) "Cleft in cranial base") -AnnotationAssertion(Annotation( ) "Cleft in skull base") +AnnotationAssertion(Annotation( ) "Cleft in skull base") AnnotationAssertion( "HP:0009752") AnnotationAssertion(rdfs:label "Cleft in skull base") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98107,10 +98100,10 @@ AnnotationAssertion( "SNOMEDCT_US:400952003") AnnotationAssertion( "UMLS:C0339182") AnnotationAssertion( "UMLS:C1302999") -AnnotationAssertion(Annotation( ) Annotation( ) "Adhesion of eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Adhesion of eyelids") AnnotationAssertion( "Ankyloblepharon filiforme adnatum") AnnotationAssertion( "Eyelid synechiae") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stuck together") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stuck together") AnnotationAssertion( "HP:0009755") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos.") @@ -98191,7 +98184,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-01T03:12:09Z") AnnotationAssertion( "SNOMEDCT_US:248194004") AnnotationAssertion( "UMLS:C0262478") -AnnotationAssertion(Annotation( ) "Facial wrinkling") +AnnotationAssertion(Annotation( ) "Facial wrinkling") AnnotationAssertion( "HP:0009762") AnnotationAssertion(rdfs:label "Facial wrinkling") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98204,8 +98197,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-01T03:55:10Z") AnnotationAssertion( "SNOMEDCT_US:90834002") AnnotationAssertion( "UMLS:C0030196") -AnnotationAssertion(Annotation( ) "Limb pain") -AnnotationAssertion(Annotation( ) "Pain in extremities") +AnnotationAssertion(Annotation( ) "Limb pain") +AnnotationAssertion(Annotation( ) "Pain in extremities") AnnotationAssertion( "HP:0009763") AnnotationAssertion(rdfs:label "Limb pain") SubClassOf( ) @@ -98256,7 +98249,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0001246") AnnotationAssertion( "HP:0006260") AnnotationAssertion( "UMLS:C4021391") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide hand bones") AnnotationAssertion( "Widening of phalanges of the hand") AnnotationAssertion( "HP:0009768") AnnotationAssertion(rdfs:label "Broad phalanges of the hand") @@ -98274,7 +98267,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004270") AnnotationAssertion( "HP:0006139") AnnotationAssertion( "UMLS:C1854952") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped hand bones") AnnotationAssertion( "Bullet-shaped phalanges of the hands") AnnotationAssertion( "Conical bullet-shaped distal ends of phalanges") AnnotationAssertion( "HP:0009769") @@ -98287,7 +98280,7 @@ SubClassOf( ) AnnotationAssertion( "2009-02-02T11:38:04Z") AnnotationAssertion( "UMLS:C4024211") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved hand bones") AnnotationAssertion( "HP:0009770") AnnotationAssertion(rdfs:label "Curved phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98305,7 +98298,7 @@ AnnotationAssertion( "UMLS:C0917990") AnnotationAssertion( "Acro-osteolysis") AnnotationAssertion( "Acroosteolysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of small bones of fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of small bones of fingers") AnnotationAssertion( "HP:0009771") AnnotationAssertion(rdfs:label "Osteolytic defects of the phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -98321,7 +98314,7 @@ AnnotationAssertion( "UMLS:C1857508") AnnotationAssertion( "Patchy sclerosis of the phalanges of the hand") AnnotationAssertion( "Phalangeal sclerosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in finger bone") AnnotationAssertion( "HP:0009772") AnnotationAssertion(rdfs:label "Patchy sclerosis of finger phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98337,7 +98330,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006187") AnnotationAssertion( "HP:0006258") AnnotationAssertion( "UMLS:C4021390") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused finger bones of the hand") AnnotationAssertion( "Synostosis involving phalanges of the hand") AnnotationAssertion( "HP:0009773") AnnotationAssertion(rdfs:label "Symphalangism affecting the phalanges of the hand") @@ -98352,7 +98345,7 @@ AnnotationAssertion( "HP:0009874") AnnotationAssertion( "UMLS:C2673397") AnnotationAssertion( "Delta phalanx/delta-like phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped hand bones") AnnotationAssertion( "HP:0009774") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98384,7 +98377,7 @@ SubClassOf( "PMID:19125433") "The absence of all phalanges of all the digits of a limb and the associated soft tissues.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-02T05:44:39Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent fingers or toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent fingers or toes") AnnotationAssertion( "Fyler:4173") AnnotationAssertion( "SNOMEDCT_US:275348004") AnnotationAssertion( "UMLS:C0238591") @@ -98406,8 +98399,8 @@ AnnotationAssertion( "HP:0002802") AnnotationAssertion( "HP:0009627") AnnotationAssertion( "UMLS:C3278811") -AnnotationAssertion(Annotation( ) "Absent thumb") -AnnotationAssertion(Annotation( ) "Absent thumbs") +AnnotationAssertion(Annotation( ) "Absent thumb") +AnnotationAssertion(Annotation( ) "Absent thumbs") AnnotationAssertion( "Aplasia of the thumb") AnnotationAssertion( "Thumb aplasia") AnnotationAssertion( "HP:0009777") @@ -98434,9 +98427,9 @@ AnnotationAssertion( "Hypoplastic thumb") AnnotationAssertion( "Hypoplastic thumbs") AnnotationAssertion( "Hypoplastic/small thumb") -AnnotationAssertion(Annotation( ) "Short thumb") -AnnotationAssertion(Annotation( ) "Short thumbs") -AnnotationAssertion(Annotation( ) "Small thumbs") +AnnotationAssertion(Annotation( ) "Short thumb") +AnnotationAssertion(Annotation( ) "Short thumbs") +AnnotationAssertion(Annotation( ) "Small thumbs") AnnotationAssertion( "Thumb brachydactyly") AnnotationAssertion( "Thumb hypoplasia") AnnotationAssertion( "HP:0009778") @@ -98453,7 +98446,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-03T04:43:16Z") AnnotationAssertion( "HP:0004708") AnnotationAssertion( "UMLS:C1834062") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 3rd-4th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 3rd-4th toes") AnnotationAssertion( "syndactyly of 3rd - 4th toes") AnnotationAssertion( "HP:0009779") AnnotationAssertion(rdfs:label "3-4 toe syndactyly") @@ -98487,8 +98480,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T04:52:01Z") AnnotationAssertion( "UMLS:C4024209") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small biceps") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped biceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small biceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped biceps") AnnotationAssertion( "HP:0009782") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the biceps") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98500,7 +98493,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T04:57:47Z") AnnotationAssertion( "UMLS:C3805764") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent biceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent biceps") AnnotationAssertion( "HP:0009783") AnnotationAssertion(rdfs:label "Biceps aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98513,8 +98506,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T04:58:31Z") AnnotationAssertion( "UMLS:C4024208") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small triceps") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped triceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small triceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped triceps") AnnotationAssertion( "HP:0009784") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the triceps") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98526,7 +98519,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T05:15:21Z") AnnotationAssertion( "UMLS:C3810484") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent triceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent triceps") AnnotationAssertion( "HP:0009785") AnnotationAssertion(rdfs:label "Triceps aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98539,8 +98532,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T05:16:42Z") AnnotationAssertion( "UMLS:C4024207") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thigh muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thigh muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thigh muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thigh muscles") AnnotationAssertion( "HP:0009786") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the musculature of the thigh") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98553,8 +98546,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T05:17:40Z") AnnotationAssertion( "UMLS:C4024206") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small quadriceps") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped quadriceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small quadriceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped quadriceps") AnnotationAssertion( "HP:0009787") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the quadriceps") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98566,7 +98559,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-03T05:18:11Z") AnnotationAssertion( "UMLS:C3805765") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent quads") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent quads") AnnotationAssertion( "HP:0009788") AnnotationAssertion(rdfs:label "Quadriceps aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98714,7 +98707,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-11T05:44:01Z") AnnotationAssertion( "SNOMEDCT_US:10362008") AnnotationAssertion( "UMLS:C0266631") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra spleen") AnnotationAssertion( "HP:0009799") AnnotationAssertion(rdfs:label "Supernumerary spleens") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98729,8 +98722,8 @@ AnnotationAssertion( "SNOMEDCT_US:11687002") AnnotationAssertion( "UMLS:C0085207") AnnotationAssertion( "UMLS:C4020778") -AnnotationAssertion(Annotation( ) "Maternal diabetes") -AnnotationAssertion(Annotation( ) "gestational diabetes") +AnnotationAssertion(Annotation( ) "Maternal diabetes") +AnnotationAssertion(Annotation( ) "gestational diabetes") AnnotationAssertion( "maternal hyperglycemia") AnnotationAssertion( "HP:0009800") AnnotationAssertion(rdfs:label "Maternal diabetes") @@ -98744,7 +98737,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-12T05:56:07Z") AnnotationAssertion( "UMLS:C4024203") AnnotationAssertion( "UMLS:C4280393") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent finger bone of the hand") AnnotationAssertion( "HP:0009802") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98766,7 +98759,7 @@ AnnotationAssertion( "Hypoplastic/small phalanges of the hand") AnnotationAssertion( "Phalangeal hypoplasia") AnnotationAssertion( "Rudimentary phalanges") -AnnotationAssertion(Annotation( ) "Short finger bones") +AnnotationAssertion(Annotation( ) "Short finger bones") AnnotationAssertion( "Short phalanges") AnnotationAssertion( "Shortened phalanges") AnnotationAssertion( "HP:0009803") @@ -98780,14 +98773,14 @@ AnnotationAssertion(Annotation( "2009-02-14T06:20:53Z") AnnotationAssertion( "UMLS:C4024202") AnnotationAssertion( "UMLS:C4083050") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tooth count") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tooth count") AnnotationAssertion( "Dental agenesis") AnnotationAssertion(Annotation( ) "Failure of development of some teeth") -AnnotationAssertion(Annotation( ) "Reduced number of teeth") +AnnotationAssertion(Annotation( ) "Reduced number of teeth") AnnotationAssertion(Annotation( ) "Teeth, agenesis") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased number of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Fewer teeth than normal") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing some teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased number of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Fewer teeth than normal") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing some teeth") AnnotationAssertion( "HP:0009804") AnnotationAssertion(rdfs:comment "Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth.") AnnotationAssertion(rdfs:label "Tooth agenesis") @@ -98824,7 +98817,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0003857") AnnotationAssertion( "UMLS:C4021389") AnnotationAssertion( "Abnormality involving the diaphyses of the upper limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shaft of long bone of the upper limbs") AnnotationAssertion( "Diaphyseal abnormality of the upper limbs") AnnotationAssertion( "HP:0009808") AnnotationAssertion(rdfs:label "Anomaly of the upper limb diaphyses") @@ -98839,7 +98832,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-23T04:55:36Z") AnnotationAssertion( "HP:0003847") AnnotationAssertion( "UMLS:C4021388") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of upper limb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the wide portion of upper limb bone") AnnotationAssertion( "Abnormality of upper limb metaphysis") AnnotationAssertion( "Metaphyseal abnormality of the upper limbs") AnnotationAssertion( "HP:0009809") @@ -98853,8 +98846,8 @@ SubClassOf( ) AnnotationAssertion( "2009-02-23T04:57:56Z") AnnotationAssertion( "UMLS:C4021387") -AnnotationAssertion(Annotation( ) "Abnormality of the joints of the upper limbs") -AnnotationAssertion(Annotation( ) "Abnormality of upper limb joint") +AnnotationAssertion(Annotation( ) "Abnormality of the joints of the upper limbs") +AnnotationAssertion(Annotation( ) "Abnormality of upper limb joint") AnnotationAssertion( "HP:0009810") AnnotationAssertion(rdfs:label "Abnormality of upper limb joint") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -98868,8 +98861,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-23T04:59:43Z") AnnotationAssertion( "HP:0002966") AnnotationAssertion( "UMLS:C4021386") -AnnotationAssertion(Annotation( ) "Abnormality of the elbow") -AnnotationAssertion(Annotation( ) "Abnormality of the elbows") +AnnotationAssertion(Annotation( ) "Abnormality of the elbow") +AnnotationAssertion(Annotation( ) "Abnormality of the elbows") AnnotationAssertion( "HP:0009811") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the elbow") @@ -98921,8 +98914,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0002969") AnnotationAssertion( "HP:0006497") AnnotationAssertion( "UMLS:C0239399") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small extremities") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped extremities") AnnotationAssertion( "Short or absent limbs") AnnotationAssertion( "Shortened limbs") AnnotationAssertion( "HP:0009815") @@ -98943,8 +98936,8 @@ AnnotationAssertion( "UMLS:C0345371") AnnotationAssertion( "Hypoplasia involving bones of the lower limbs") AnnotationAssertion( "Hypoplasia of the lower limbs") -AnnotationAssertion(Annotation( ) "Lower limb undergrowth") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lower limb bones") +AnnotationAssertion(Annotation( ) "Lower limb undergrowth") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped lower limb bones") AnnotationAssertion( "HP:0009816") AnnotationAssertion(rdfs:label "Lower limb undergrowth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -98956,7 +98949,7 @@ SubClassOf( ) AnnotationAssertion( "2009-02-23T05:10:03Z") AnnotationAssertion( "UMLS:C4024198") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the lower limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the lower limbs") AnnotationAssertion( "HP:0009817") AnnotationAssertion(rdfs:label "Aplasia involving bones of the lower limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99009,11 +99002,11 @@ AnnotationAssertion( "HP:0003968") AnnotationAssertion( "HP:0006405") AnnotationAssertion( "UMLS:C1855299") -AnnotationAssertion(Annotation( ) "Forearm undergrowth") +AnnotationAssertion(Annotation( ) "Forearm undergrowth") AnnotationAssertion( "Hypoplasia involving forearm bones") -AnnotationAssertion(Annotation( ) "Short forearm bones") -AnnotationAssertion(Annotation( ) "Short forearms") -AnnotationAssertion(Annotation( ) "Shortened forearm") +AnnotationAssertion(Annotation( ) "Short forearm bones") +AnnotationAssertion(Annotation( ) "Short forearms") +AnnotationAssertion(Annotation( ) "Shortened forearm") AnnotationAssertion( "HP:0009821") AnnotationAssertion(rdfs:label "Forearm undergrowth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99027,7 +99020,7 @@ SubClassOf( ) AnnotationAssertion( "2009-02-23T05:12:10Z") AnnotationAssertion( "UMLS:C4024195") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent forearm bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent forearm bones") AnnotationAssertion( "HP:0009822") AnnotationAssertion(rdfs:label "Aplasia involving forearm bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99038,7 +99031,7 @@ SubClassOf( ) AnnotationAssertion( "2009-02-23T05:13:20Z") AnnotationAssertion( "UMLS:C4024194") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the upper limbs") AnnotationAssertion( "HP:0009823") AnnotationAssertion(rdfs:label "Aplasia involving bones of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99054,9 +99047,9 @@ AnnotationAssertion( "HP:0006364") AnnotationAssertion( "UMLS:C1837406") AnnotationAssertion( "Hypoplasia involving bones of the upper limbs") -AnnotationAssertion(Annotation( ) "Short arms") -AnnotationAssertion(Annotation( ) "Shortening of the arms") -AnnotationAssertion(Annotation( ) "Upper limb undergrowth") +AnnotationAssertion(Annotation( ) "Short arms") +AnnotationAssertion(Annotation( ) "Shortening of the arms") +AnnotationAssertion(Annotation( ) "Upper limb undergrowth") AnnotationAssertion( "HP:0009824") AnnotationAssertion(rdfs:label "Upper limb undergrowth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99068,7 +99061,7 @@ SubClassOf( ) AnnotationAssertion( "2009-02-23T05:16:44Z") AnnotationAssertion( "UMLS:C4024193") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the extremities") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the extremities") AnnotationAssertion( "HP:0009825") AnnotationAssertion(rdfs:label "Aplasia involving bones of the extremities") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99084,10 +99077,10 @@ AnnotationAssertion( "HP:0005057") AnnotationAssertion( "UMLS:C0239399") AnnotationAssertion( "Hypoplasia involving bones of the extremities") -AnnotationAssertion(Annotation( ) "Limb undergrowth") -AnnotationAssertion(Annotation( ) "Short limb") -AnnotationAssertion(Annotation( ) Annotation( ) "Short limbs") -AnnotationAssertion(Annotation( ) "limb shortening") +AnnotationAssertion(Annotation( ) "Limb undergrowth") +AnnotationAssertion(Annotation( ) "Short limb") +AnnotationAssertion(Annotation( ) Annotation( ) "Short limbs") +AnnotationAssertion(Annotation( ) "limb shortening") AnnotationAssertion( "HP:0009826") AnnotationAssertion(rdfs:label "Limb undergrowth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99167,7 +99160,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D020422") AnnotationAssertion( "SNOMEDCT_US:128189008") AnnotationAssertion( "UMLS:C0494491") -AnnotationAssertion(Annotation( ) Annotation( ) "Single damaged nerve") +AnnotationAssertion(Annotation( ) Annotation( ) "Single damaged nerve") AnnotationAssertion( "HP:0009831") AnnotationAssertion(rdfs:label "Mononeuropathy") SubClassOf( ) @@ -99182,7 +99175,7 @@ AnnotationAssertion( "Abnormal terminal phalanges of the hand") AnnotationAssertion( "Abnormality of the distal phalanges of the hand") AnnotationAssertion( "Abnormality of the distal phalanx of finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost finger bone") AnnotationAssertion( "HP:0009832") AnnotationAssertion(rdfs:label "Abnormal distal phalanx morphology of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99194,7 +99187,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-03-11T12:01:39Z") AnnotationAssertion( "UMLS:C4024191") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle finger bones of the hand") AnnotationAssertion( "Abnormality of the middle phalanges of the hand") AnnotationAssertion( "HP:0009833") AnnotationAssertion(rdfs:label "Abnormal middle phalanx morphology of the hand") @@ -99206,7 +99199,7 @@ SubClassOf( ) AnnotationAssertion( "2009-03-11T12:01:39Z") AnnotationAssertion( "UMLS:C4024190") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost finger bones of the hand") AnnotationAssertion( "Abnormality of the proximal phalanges of the hand") AnnotationAssertion( "HP:0009834") AnnotationAssertion(rdfs:label "Abnormal proximal phalanx morphology of the hand") @@ -99224,8 +99217,8 @@ AnnotationAssertion( "HP:0006235") AnnotationAssertion( "UMLS:C1861336") AnnotationAssertion( "Absent/hypoplastic distal phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost finger bone of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost finger bone of the hand") AnnotationAssertion( "Aplasia/Hypoplasia of the distal phalanges") AnnotationAssertion( "Aplastic/hypoplastic distal phalanges") AnnotationAssertion( "Hypoplastic to absent terminal phalanges") @@ -99252,7 +99245,7 @@ AnnotationAssertion( "Broad distal phalanges") AnnotationAssertion( "Broad distal phalanges of the hand") AnnotationAssertion( "Broad distal phalanx") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost finger bone") AnnotationAssertion( "Broad terminal phalanges") AnnotationAssertion( "Broad, square ends of distal phalanges") AnnotationAssertion( "Spatulate terminal phalanges") @@ -99270,7 +99263,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:10:11Z") AnnotationAssertion( "HP:0009860") AnnotationAssertion( "UMLS:C4024189") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost finger bone of the hand") AnnotationAssertion( "HP:0009837") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99283,7 +99276,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:10:11Z") AnnotationAssertion( "HP:0009862") AnnotationAssertion( "UMLS:C4024188") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost finger bone of the hand") AnnotationAssertion( "HP:0009838") AnnotationAssertion(rdfs:label "Curved distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99314,7 +99307,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009868") AnnotationAssertion( "UMLS:C4021384") AnnotationAssertion( "Patchy sclerosis of the distal phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in outermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in outermost finger bone") AnnotationAssertion( "HP:0009840") AnnotationAssertion(rdfs:label "Patchy sclerosis of distal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99330,8 +99323,8 @@ AnnotationAssertion( "HP:0006148") AnnotationAssertion( "UMLS:C1862152") AnnotationAssertion( "Absent/hypoplastic middle phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle finger bone of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle finger bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle finger bone of the hand") AnnotationAssertion( "Aplasia/hypoplasia of middle phalanges") AnnotationAssertion( "Aplastic/hypoplastic middle phalanges") AnnotationAssertion( "Hypoplastic/aplastic middle phalanx") @@ -99349,7 +99342,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-03-11T12:15:55Z") AnnotationAssertion( "UMLS:C4021383") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle finger bones") AnnotationAssertion( "Broad middle phalanges of finger") AnnotationAssertion( "Broad middle phalanges of the hand") AnnotationAssertion( "HP:0009844") @@ -99377,7 +99370,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:15:55Z") AnnotationAssertion( "HP:0009863") AnnotationAssertion( "UMLS:C4024186") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle finger bonds of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle finger bonds of the hand") AnnotationAssertion( "HP:0009846") AnnotationAssertion(rdfs:label "Curved middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99404,7 +99397,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009870") AnnotationAssertion( "UMLS:C4021382") AnnotationAssertion( "Patchy sclerosis of the middle phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle finger bones of the hand") AnnotationAssertion( "HP:0009848") AnnotationAssertion(rdfs:label "Patchy sclerosis of middle phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99418,7 +99411,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:15:55Z") AnnotationAssertion( "HP:0009872") AnnotationAssertion( "UMLS:C4024184") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle finger bone") AnnotationAssertion( "HP:0009849") AnnotationAssertion(rdfs:label "Symphalangism of middle phalanx of finger") SubClassOf( ) @@ -99430,7 +99423,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:15:55Z") AnnotationAssertion( "HP:0009876") AnnotationAssertion( "UMLS:C4024183") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle finger bones of the hand") AnnotationAssertion( "HP:0009850") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99442,8 +99435,8 @@ SubClassOf( ) AnnotationAssertion( "2009-03-11T12:16:33Z") AnnotationAssertion( "UMLS:C4024182") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost finger bones of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost finger bones of the hand") AnnotationAssertion( "HP:0009851") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99457,8 +99450,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:16:33Z") AnnotationAssertion( "HP:0006168") AnnotationAssertion( "UMLS:C4024181") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost finger bones of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost finger bones of the hand") AnnotationAssertion( "HP:0009852") AnnotationAssertion(rdfs:label "Broad proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99472,7 +99465,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:16:33Z") AnnotationAssertion( "HP:0009861") AnnotationAssertion( "UMLS:C4024180") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost finger bones of the hand") AnnotationAssertion( "HP:0009853") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99485,7 +99478,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:16:33Z") AnnotationAssertion( "HP:0009864") AnnotationAssertion( "UMLS:C4024179") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost finger bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost finger bones of the hand") AnnotationAssertion( "HP:0009854") AnnotationAssertion(rdfs:label "Curved proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99513,7 +99506,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009869") AnnotationAssertion( "UMLS:C4021381") AnnotationAssertion( "Patchy sclerosis of the proximal phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in innermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in innermost finger bone") AnnotationAssertion( "HP:0009856") AnnotationAssertion(rdfs:label "Patchy sclerosis of proximal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99526,7 +99519,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:16:33Z") AnnotationAssertion( "HP:0009873") AnnotationAssertion( "UMLS:C4024178") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost hand bones") AnnotationAssertion( "HP:0009857") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanges of the hand") SubClassOf( ) @@ -99538,7 +99531,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-03-11T12:16:33Z") AnnotationAssertion( "HP:0009877") AnnotationAssertion( "UMLS:C4024177") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost finger bone") AnnotationAssertion( "HP:0009858") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanges of the hand") SubClassOf( ) @@ -99551,7 +99544,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006061") AnnotationAssertion( "HP:0009842") AnnotationAssertion( "UMLS:C4024176") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the hand") AnnotationAssertion( "HP:0009875") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99585,7 +99578,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-04-24T04:18:59Z") AnnotationAssertion( "HP:0005816") AnnotationAssertion( "UMLS:C4024174") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost hand bones") AnnotationAssertion( "HP:0009880") AnnotationAssertion(rdfs:label "Broad distal phalanges of all fingers") SubClassOf( ) @@ -99596,7 +99589,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-04-24T04:29:30Z") AnnotationAssertion( "UMLS:C4024173") AnnotationAssertion(Annotation( ) "Absent distal phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost hand bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost hand bone") AnnotationAssertion(Annotation( ) "Aplasia of outermost hand bone") AnnotationAssertion( "HP:0009881") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanges of the hand") @@ -99629,7 +99622,7 @@ AnnotationAssertion( "Hypoplastic distal phalanges") AnnotationAssertion( "Hypoplastic terminal phalanges") AnnotationAssertion( "Short distal phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost finger bone") AnnotationAssertion( "Terminal phalangeal hypoplasia of hand") AnnotationAssertion( "HP:0009882") AnnotationAssertion( ) @@ -99649,8 +99642,8 @@ AnnotationAssertion( "HP:0010007") AnnotationAssertion( "UMLS:C1849343") AnnotationAssertion( "Bifid terminal phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of hand") AnnotationAssertion( "Partial/complete duplication of the distal phalanges of the hand") AnnotationAssertion( "HP:0009883") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of hand") @@ -99667,7 +99660,7 @@ AnnotationAssertion( "UMLS:C1969237") AnnotationAssertion( "Tapered distal phalanges") AnnotationAssertion( "Tapered distal phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Tapered outermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Tapered outermost finger bone") AnnotationAssertion( "HP:0009884") AnnotationAssertion(rdfs:label "Tapered distal phalanges of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99698,9 +99691,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-04-30T06:00:53Z") AnnotationAssertion( "UMLS:C4024172") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair color") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair color") AnnotationAssertion(Annotation( ) "Abnormality of hair colour") -AnnotationAssertion(Annotation( ) "Abnormality of hair pigmentation") +AnnotationAssertion(Annotation( ) "Abnormality of hair pigmentation") AnnotationAssertion( "HP:0009887") AnnotationAssertion(rdfs:label "Abnormality of hair pigmentation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -99712,7 +99705,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-04-30T06:18:33Z") AnnotationAssertion( "UMLS:C4024171") -AnnotationAssertion(Annotation( ) "Abnormality of secondary sexual hair") +AnnotationAssertion(Annotation( ) "Abnormality of secondary sexual hair") AnnotationAssertion( "HP:0009888") AnnotationAssertion(rdfs:label "Abnormality of secondary sexual hair") SubClassOf( ) @@ -99725,7 +99718,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4024170") AnnotationAssertion(Annotation( ) "Localised abnormal hair growth") AnnotationAssertion(Annotation( ) "Localised hirsutism") -AnnotationAssertion(Annotation( ) Annotation( ) "Localized abnormal hair growth") +AnnotationAssertion(Annotation( ) Annotation( ) "Localized abnormal hair growth") AnnotationAssertion( "HP:0009889") AnnotationAssertion(rdfs:label "Localized hirsutism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99737,7 +99730,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-04-30T06:34:27Z") AnnotationAssertion( "UMLS:C3276036") -AnnotationAssertion(Annotation( ) "High frontal hairline") +AnnotationAssertion(Annotation( ) "High frontal hairline") AnnotationAssertion( "HP:0009890") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead.") @@ -99758,13 +99751,13 @@ AnnotationAssertion(Annotation( "Depressed supraorbital ridge") AnnotationAssertion(Annotation( ) "Flat supraorbital margins") AnnotationAssertion( "Flat supraorbital ridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened bony protrusion above eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened bony protrusion above eyes") AnnotationAssertion(Annotation( ) "Hypoplasia of supraorbital margins") AnnotationAssertion( "Hypoplasia of the supraorbital ridges") AnnotationAssertion( "Hypoplastic supraorbital ridges") AnnotationAssertion( "Shallow orbital ridges") AnnotationAssertion( "Shallow supraorbital ridge") -AnnotationAssertion(Annotation( ) "Underdeveloped brows") +AnnotationAssertion(Annotation( ) "Underdeveloped brows") AnnotationAssertion( "HP:0009891") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Underdeveloped supraorbital ridges") @@ -99780,8 +99773,8 @@ AnnotationAssertion( "SNOMEDCT_US:57436000") AnnotationAssertion( "UMLS:C0702139") AnnotationAssertion( "UMLS:C1408788") -AnnotationAssertion(Annotation( ) "Absent ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent ears") +AnnotationAssertion(Annotation( ) "Absent ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent ears") AnnotationAssertion(Annotation( ) "Congenital absence of external ear") AnnotationAssertion( "HP:0009892") AnnotationAssertion( ) @@ -99809,7 +99802,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2009-04-30T10:09:17Z") AnnotationAssertion( "UMLS:C4024168") -AnnotationAssertion(Annotation( ) "Thickened ears") +AnnotationAssertion(Annotation( ) "Thickened ears") AnnotationAssertion( "HP:0009894") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Thickened ears") @@ -99896,7 +99889,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D046088") AnnotationAssertion( "SNOMEDCT_US:162342008") AnnotationAssertion( "UMLS:C2607947") -AnnotationAssertion(Annotation( ) Annotation( ) "Deafness in one ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Deafness in one ear") AnnotationAssertion( "Deafness, unilateral") AnnotationAssertion( "HP:0009900") AnnotationAssertion(rdfs:comment "Deafness affecting only one ear.") @@ -99910,7 +99903,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-04-30T10:50:28Z") AnnotationAssertion( "UMLS:C4024166") -AnnotationAssertion(Annotation( ) "Crumpled ear") +AnnotationAssertion(Annotation( ) "Crumpled ear") AnnotationAssertion( "HP:0009901") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.") @@ -99975,8 +99968,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-01T02:55:12Z") AnnotationAssertion( "UMLS:C1851792") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ear lobes") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ear lobes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ear lobes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ear lobes") AnnotationAssertion( "HP:0009906") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the earlobes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -99989,7 +99982,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-01T02:57:50Z") AnnotationAssertion( "UMLS:C4021375") AnnotationAssertion( "Adherent earlobe") -AnnotationAssertion(Annotation( ) "Attached earlobe") +AnnotationAssertion(Annotation( ) "Attached earlobe") AnnotationAssertion( "HP:0009907") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The earlobe does not have a dependent portion.") @@ -100003,7 +99996,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-01T03:00:22Z") AnnotationAssertion( "HP:0008604") AnnotationAssertion( "UMLS:C1851897") -AnnotationAssertion(Annotation( ) "Earlobe crease") +AnnotationAssertion(Annotation( ) "Earlobe crease") AnnotationAssertion( "Transverse earlobe creases") AnnotationAssertion( "HP:0009908") AnnotationAssertion( ) @@ -100019,11 +100012,11 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009764") AnnotationAssertion( "UMLS:C1856117") AnnotationAssertion( "Fleshy upturned lobules") -AnnotationAssertion(Annotation( ) "Lobe, uplifted") -AnnotationAssertion(Annotation( ) "Uplifted earlobe") -AnnotationAssertion(Annotation( ) "Upturned earlobe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uplifted earlobes") -AnnotationAssertion(Annotation( ) Annotation( ) "Upturned earlobes") +AnnotationAssertion(Annotation( ) "Lobe, uplifted") +AnnotationAssertion(Annotation( ) "Uplifted earlobe") +AnnotationAssertion(Annotation( ) "Upturned earlobe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uplifted earlobes") +AnnotationAssertion(Annotation( ) Annotation( ) "Upturned earlobes") AnnotationAssertion( "HP:0009909") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This finding is characteristic of Mowat-Wilson syndrome.") @@ -100036,7 +100029,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-01T03:26:53Z") AnnotationAssertion( "UMLS:C4021374") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle ear bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle ear bones") AnnotationAssertion( "Absent middle ear ossicles") AnnotationAssertion( "HP:0009910") AnnotationAssertion(rdfs:label "Aplasia of the middle ear ossicles") @@ -100075,8 +100068,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-01T03:43:12Z") AnnotationAssertion( "UMLS:C4024161") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small tragus") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped tragus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small tragus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped tragus") AnnotationAssertion( "HP:0009913") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the tragus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100090,8 +100083,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C562573") AnnotationAssertion( "SNOMEDCT_US:205798005") AnnotationAssertion( "UMLS:C0266667") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cyclops eye") -AnnotationAssertion(Annotation( ) "Single central eye") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cyclops eye") +AnnotationAssertion(Annotation( ) "Single central eye") AnnotationAssertion( "HP:0009914") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Cyclopia") @@ -100103,7 +100096,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-02T05:06:20Z") AnnotationAssertion( "UMLS:C4021373") -AnnotationAssertion(Annotation( ) "Asymmetry of the corneas") +AnnotationAssertion(Annotation( ) "Asymmetry of the corneas") AnnotationAssertion( "HP:0009915") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Corneal asymmetry") @@ -100118,10 +100111,10 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D015875") AnnotationAssertion( "SNOMEDCT_US:13045009") AnnotationAssertion( "UMLS:C0003079") -AnnotationAssertion(Annotation( ) "Asymmetric pupil sizes") -AnnotationAssertion(Annotation( ) "Asymmetry of the pupils") +AnnotationAssertion(Annotation( ) "Asymmetric pupil sizes") +AnnotationAssertion(Annotation( ) "Asymmetry of the pupils") AnnotationAssertion( "Unequal pupil dilatation") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal pupil size") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal pupil size") AnnotationAssertion( "HP:0009916") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris.") @@ -100150,7 +100143,7 @@ AnnotationAssertion( "SNOMEDCT_US:392461003") AnnotationAssertion( "UMLS:C1271219") AnnotationAssertion( "Corectopia") -AnnotationAssertion(Annotation( ) Annotation( ) "Displaced pupil") +AnnotationAssertion(Annotation( ) Annotation( ) "Displaced pupil") AnnotationAssertion( "HP:0009918") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Ectopia pupillae") @@ -100162,7 +100155,7 @@ SubClassOf( ) "A tumor of the eye originating from cells of the retina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-02T06:23:25Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Retina tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Retina tumor") AnnotationAssertion(Annotation( ) "Retina tumour") AnnotationAssertion( "MSH:D012175") AnnotationAssertion( "MSH:D019572") @@ -100236,8 +100229,8 @@ AnnotationAssertion( "UMLS:C0685684") AnnotationAssertion( "UMLS:C4024159") AnnotationAssertion( "UMLS:C4280392") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased nasal size") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased nasal size") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of nose") AnnotationAssertion(Annotation( ) "Hypoplasia of the nose") AnnotationAssertion(Annotation( ) "Hypotrophic nose") AnnotationAssertion( "HP:0009924") @@ -100256,9 +100249,9 @@ AnnotationAssertion( "SNOMEDCT_US:418035005") AnnotationAssertion( "UMLS:C0152227") AnnotationAssertion( "Increased lacrimation") -AnnotationAssertion(Annotation( ) "Increased tears") -AnnotationAssertion(Annotation( ) "Tearing") -AnnotationAssertion(Annotation( ) "Watery eyes") +AnnotationAssertion(Annotation( ) "Increased tears") +AnnotationAssertion(Annotation( ) "Tearing") +AnnotationAssertion(Annotation( ) "Watery eyes") AnnotationAssertion( "HP:0009926") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system.") @@ -100274,12 +100267,12 @@ AnnotationAssertion( "SNOMEDCT_US:111317000") AnnotationAssertion( "UMLS:C0265740") AnnotationAssertion( "UMLS:C4280391") -AnnotationAssertion(Annotation( ) "Absent nose") +AnnotationAssertion(Annotation( ) "Absent nose") AnnotationAssertion( "Arrhinia") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal underdevelopment") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal underdevelopment") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing nose") AnnotationAssertion( "HP:0009927") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Aplasia of the nose") @@ -100322,12 +100315,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-05T07:06:20Z") AnnotationAssertion( "UMLS:C4024157") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of nostrils") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nostrils") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal nostril shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal nostril size") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven nostril shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven nostril size") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal nostril shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal nostril size") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven nostril shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven nostril size") AnnotationAssertion( "HP:0009930") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Asymmetry of the nares") @@ -100340,19 +100333,19 @@ AnnotationAssertion(Annotation( "2009-05-10T10:30:20Z") AnnotationAssertion( "SNOMEDCT_US:399353008") AnnotationAssertion( "UMLS:C0426440") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad nostril") AnnotationAssertion(Annotation( ) "Dilated nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Dilated nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Dilated nostril") AnnotationAssertion(Annotation( ) "Enlarged nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged nostril") AnnotationAssertion( "Increased diameter of nares") AnnotationAssertion(Annotation( ) "Increased diameter of nostril") AnnotationAssertion( "Increased width of nares") AnnotationAssertion( "Large nares") AnnotationAssertion( "Naris, broad") AnnotationAssertion( "Naris, enlarged") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide nares") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide nostril") AnnotationAssertion( "HP:0009931") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age.") @@ -100367,10 +100360,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-10T10:33:56Z") AnnotationAssertion( "SNOMEDCT_US:95266003") AnnotationAssertion( "UMLS:C0685682") -AnnotationAssertion(Annotation( ) Annotation( ) "Mono nostril") -AnnotationAssertion(Annotation( ) Annotation( ) "One nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Mono nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "One nostril") AnnotationAssertion(Annotation( ) "Single nare") -AnnotationAssertion(Annotation( ) "Single nostril") +AnnotationAssertion(Annotation( ) "Single nostril") AnnotationAssertion( "HP:0009932") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified.") @@ -100392,12 +100385,12 @@ AnnotationAssertion( "Naris, narrow") AnnotationAssertion( "Naris, slit-like") AnnotationAssertion(Annotation( ) "Narrow nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow nostrils") -AnnotationAssertion(Annotation( ) Annotation( ) "Slit-like nostrils") -AnnotationAssertion(Annotation( ) Annotation( ) "Small nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Slit-like nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Small nostrils") AnnotationAssertion( "Thin nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin nostrils") -AnnotationAssertion(Annotation( ) Annotation( ) "Collapsed nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Collapsed nostrils") AnnotationAssertion( "HP:0009933") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Narrow naris") @@ -100412,7 +100405,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021372") AnnotationAssertion(Annotation( ) "Accessory nares") AnnotationAssertion(Annotation( ) "Accessory nostril") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra nostril") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra nostril") AnnotationAssertion(Annotation( ) "Supernumerary nares") AnnotationAssertion( "Supernumerary nostrils") AnnotationAssertion( "HP:0009934") @@ -100428,8 +100421,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-10T10:40:21Z") AnnotationAssertion( "UMLS:C4024156") AnnotationAssertion(Annotation( ) "Ageneis of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nasal septum") AnnotationAssertion( "HP:0009935") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the nasal septum") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100442,11 +100435,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-10T10:46:40Z") AnnotationAssertion( "UMLS:C4024155") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of nasal septum") -AnnotationAssertion(Annotation( ) "Narrow nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow septum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of nasal septum") +AnnotationAssertion(Annotation( ) "Narrow nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow septum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin septum of nose") AnnotationAssertion( "HP:0009936") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Narrow nasal septum") @@ -100458,7 +100451,7 @@ SubClassOf( ) "Excess facial hair.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-10T10:58:49Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive face hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive face hair") AnnotationAssertion( "UMLS:C1850041") AnnotationAssertion( "UMLS:C2128203") AnnotationAssertion( "HP:0009937") @@ -100472,9 +100465,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-10T11:17:18Z") AnnotationAssertion( "UMLS:C4024154") -AnnotationAssertion(Annotation( ) "Depressed cheeks") -AnnotationAssertion(Annotation( ) "Hollow cheeks") -AnnotationAssertion(Annotation( ) "Sunken cheeks") +AnnotationAssertion(Annotation( ) "Depressed cheeks") +AnnotationAssertion(Annotation( ) "Hollow cheeks") +AnnotationAssertion(Annotation( ) "Sunken cheeks") AnnotationAssertion( "HP:0009938") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Sunken cheeks") @@ -100498,10 +100491,10 @@ AnnotationAssertion( "Absent mandible") AnnotationAssertion(Annotation( ) "Agenesis of the mandible") AnnotationAssertion(Annotation( ) "Aplasia of the lower jaw bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of lower jaw") AnnotationAssertion(Annotation( ) "Failure of development of mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower jaw bones") AnnotationAssertion( "HP:0009939") AnnotationAssertion(rdfs:label "Mandibular aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100516,17 +100509,17 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:235082006") AnnotationAssertion( "UMLS:C0399518") AnnotationAssertion( "UMLS:C4082201") -AnnotationAssertion(Annotation( ) "Asymmetry of lower jaw") +AnnotationAssertion(Annotation( ) "Asymmetry of lower jaw") AnnotationAssertion(Annotation( ) "Canted lower jaw") AnnotationAssertion(Annotation( ) "Canted mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked lower jaw") AnnotationAssertion( "Deviation of lower jaw") AnnotationAssertion( "Deviation of mandible") -AnnotationAssertion(Annotation( ) "Lower jaw shifted to one side") -AnnotationAssertion(Annotation( ) Annotation( ) "Tilted lower jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven lower jaw") +AnnotationAssertion(Annotation( ) "Lower jaw shifted to one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Tilted lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven lower jaw") AnnotationAssertion(Annotation( ) "Uneven mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Deviation of the lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Deviation of the lower jaw") AnnotationAssertion(Annotation( ) "Deviation of the mandible") AnnotationAssertion( "HP:0009940") AnnotationAssertion( ) @@ -100540,11 +100533,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-10T11:30:31Z") AnnotationAssertion( "UMLS:C4024153") -AnnotationAssertion(Annotation( ) "Asymmetry of the mouth") +AnnotationAssertion(Annotation( ) "Asymmetry of the mouth") AnnotationAssertion(Annotation( ) "Canted mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Tilted mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Tilted mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven mouth") AnnotationAssertion(Annotation( ) "Asymmetry of oral cavity") AnnotationAssertion( "HP:0009941") AnnotationAssertion( ) @@ -100578,7 +100571,7 @@ AnnotationAssertion( "HP:0004067") AnnotationAssertion( "UMLS:C3554724") AnnotationAssertion( "Complete duplication of the phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of thumb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of thumb bones") AnnotationAssertion( "Digitalization of thumb") AnnotationAssertion( "Digitalization of thumbs") AnnotationAssertion( "HP:0009943") @@ -100598,7 +100591,7 @@ AnnotationAssertion( "Bifid thumb") AnnotationAssertion( "Notching of thumb phalanges") AnnotationAssertion( "Partial duplication of the phalanges of the thumb") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the thumb bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the thumb bones") AnnotationAssertion( "HP:0009944") AnnotationAssertion(rdfs:label "Partial duplication of thumb phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100611,7 +100604,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T01:00:37Z") AnnotationAssertion( "UMLS:C4021369") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of index finger") AnnotationAssertion( "Partial/complete duplication of phalanges of the 2nd finger") AnnotationAssertion( "HP:0009945") AnnotationAssertion(rdfs:label "Duplication of phalanx of 2nd finger") @@ -100624,7 +100617,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-15T01:01:48Z") AnnotationAssertion( "UMLS:C4024152") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra index finger") AnnotationAssertion( "HP:0009946") AnnotationAssertion(rdfs:label "Polydactyly affecting the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -100654,7 +100647,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004144") AnnotationAssertion( "UMLS:C4021367") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 2nd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the outermost bone of the index finger") AnnotationAssertion( "HP:0009948") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -100668,7 +100661,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T01:58:58Z") AnnotationAssertion( "UMLS:C4021366") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the middle bone of the index finger") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 2nd finger") AnnotationAssertion( "HP:0009949") AnnotationAssertion(rdfs:label "Duplication of the middle phalanx of the 2nd finger") @@ -100683,7 +100676,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:03:28Z") AnnotationAssertion( "UMLS:C4024151") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the index finger") AnnotationAssertion( "HP:0009950") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100698,8 +100691,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-15T02:03:28Z") AnnotationAssertion( "UMLS:C4021365") AnnotationAssertion( "Bifid terminal phalanx of the 2nd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the index finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the 2nd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the 2nd finger") AnnotationAssertion( "HP:0009951") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 2nd finger") SubClassOf( ) @@ -100712,7 +100705,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:05:27Z") AnnotationAssertion( "UMLS:C4024150") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the index finger") AnnotationAssertion( "HP:0009952") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100726,7 +100719,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:05:27Z") AnnotationAssertion( "UMLS:C4024149") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the index finger") AnnotationAssertion( "HP:0009953") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 2nd finger") SubClassOf( ) @@ -100739,7 +100732,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:06:11Z") AnnotationAssertion( "UMLS:C4024148") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the proximal bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the proximal bone of the index finger") AnnotationAssertion( "HP:0009954") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100753,7 +100746,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:06:11Z") AnnotationAssertion( "UMLS:C4024147") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the proximal bones of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the proximal bones of the index finger") AnnotationAssertion( "HP:0009955") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 2nd finger") SubClassOf( ) @@ -100766,7 +100759,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:07:41Z") AnnotationAssertion( "UMLS:C4024146") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the bones of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the bones of the index finger") AnnotationAssertion( "HP:0009956") AnnotationAssertion(rdfs:label "Partial duplication of the phalanges of the 2nd finger") SubClassOf( ) @@ -100778,7 +100771,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-15T02:08:02Z") AnnotationAssertion( "UMLS:C4024145") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the bones of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the bones of the index finger") AnnotationAssertion( "HP:0009957") AnnotationAssertion(rdfs:label "Complete duplication of the phalanges of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100790,7 +100783,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-26T09:54:29Z") AnnotationAssertion( "UMLS:C4024144") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra middle finger") AnnotationAssertion( "HP:0009958") AnnotationAssertion(rdfs:label "Polydactyly affecting the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -100803,7 +100796,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T09:54:51Z") AnnotationAssertion( "UMLS:C4021364") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of middle finger bone") AnnotationAssertion( "Partial/complete duplication of phalanges of the 3rd finger") AnnotationAssertion( "HP:0009959") AnnotationAssertion(rdfs:label "Duplication of phalanx of 3rd finger") @@ -100817,7 +100810,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:46:36Z") AnnotationAssertion( "UMLS:C4024143") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of middle finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of middle finger bones") AnnotationAssertion( "HP:0009960") AnnotationAssertion(rdfs:label "Complete duplication of the phalanges of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100830,7 +100823,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:46:36Z") AnnotationAssertion( "UMLS:C4024142") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of middle finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of middle finger bones") AnnotationAssertion( "HP:0009961") AnnotationAssertion(rdfs:label "Partial duplication of the phalanges of the 3rd finger") SubClassOf( ) @@ -100843,7 +100836,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-26T12:46:36Z") AnnotationAssertion( "UMLS:C4021363") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009962") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -100859,7 +100852,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0004157") AnnotationAssertion( "HP:0004174") AnnotationAssertion( "UMLS:C4021362") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the middle finger") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 3rd finger") AnnotationAssertion( "HP:0009963") AnnotationAssertion(rdfs:label "Duplication of the middle phalanx of the 3rd finger") @@ -100874,7 +100867,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:46:36Z") AnnotationAssertion( "UMLS:C4021361") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the proximal bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the proximal bone of the middle finger") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 3rd finger") AnnotationAssertion( "HP:0009964") AnnotationAssertion(rdfs:label "Duplication of the proximal phalanx of the 3rd finger") @@ -100889,7 +100882,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:49:35Z") AnnotationAssertion( "UMLS:C4024141") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 3rd finger") AnnotationAssertion( "HP:0009965") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100903,7 +100896,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:49:35Z") AnnotationAssertion( "UMLS:C4024140") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the middle finger") AnnotationAssertion( "HP:0009966") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100917,7 +100910,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:49:35Z") AnnotationAssertion( "UMLS:C4024139") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the 3rd finger") AnnotationAssertion( "HP:0009967") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -100932,8 +100925,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-26T12:49:59Z") AnnotationAssertion( "UMLS:C4021360") AnnotationAssertion( "Bifid terminal phalanx of the 3rd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the middle finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the middle finger") AnnotationAssertion( "HP:0009968") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 3rd finger") SubClassOf( ) @@ -100946,7 +100939,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:49:59Z") AnnotationAssertion( "UMLS:C4024138") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the 3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the 3rd finger") AnnotationAssertion( "HP:0009969") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 3rd finger") SubClassOf( ) @@ -100959,7 +100952,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T12:49:59Z") AnnotationAssertion( "UMLS:C4024137") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the proximal bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the proximal bone of the middle finger") AnnotationAssertion( "HP:0009970") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 3rd finger") SubClassOf( ) @@ -100971,7 +100964,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-26T02:19:06Z") AnnotationAssertion( "UMLS:C4024136") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra ring finger") AnnotationAssertion( "HP:0009971") AnnotationAssertion(rdfs:label "Polydactyly affecting the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -100984,7 +100977,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:19:28Z") AnnotationAssertion( "UMLS:C4021359") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of bones of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of bones of the ring finger") AnnotationAssertion( "Partial/complete duplication of phalanges of the 4th finger") AnnotationAssertion( "HP:0009972") AnnotationAssertion(rdfs:label "Duplication of phalanx of 4th finger") @@ -100998,7 +100991,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:08Z") AnnotationAssertion( "UMLS:C4024135") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the bones of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the bones of the ring finger") AnnotationAssertion( "HP:0009973") AnnotationAssertion(rdfs:label "Complete duplication of the phalanges of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101011,7 +101004,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:08Z") AnnotationAssertion( "UMLS:C4024134") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the bones of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the bones of the ring finger") AnnotationAssertion( "HP:0009974") AnnotationAssertion(rdfs:label "Partial duplication of the phalanges of the 4th finger") SubClassOf( ) @@ -101024,7 +101017,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-26T02:20:08Z") AnnotationAssertion( "UMLS:C4021358") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009975") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -101038,7 +101031,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:08Z") AnnotationAssertion( "UMLS:C4021357") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the middle bone of the ring finger") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 4th finger") AnnotationAssertion( "HP:0009976") AnnotationAssertion(rdfs:label "Duplication of the middle phalanx of the 4th finger") @@ -101053,7 +101046,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:08Z") AnnotationAssertion( "UMLS:C4021356") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the proximal bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the proximal bone of the ring finger") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 4th finger") AnnotationAssertion( "HP:0009977") AnnotationAssertion(rdfs:label "Duplication of the proximal phalanx of the 4th finger") @@ -101068,7 +101061,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:23Z") AnnotationAssertion( "UMLS:C4024133") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009978") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101082,7 +101075,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:23Z") AnnotationAssertion( "UMLS:C4024132") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the ring finger") AnnotationAssertion( "HP:0009979") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101096,7 +101089,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:23Z") AnnotationAssertion( "UMLS:C4024131") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the proximal bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the proximal bone of the ring finger") AnnotationAssertion( "HP:0009980") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101111,8 +101104,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-26T02:20:37Z") AnnotationAssertion( "UMLS:C4021355") AnnotationAssertion( "Bifid terminal phalanx of the 4th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the ring finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the ring finger") AnnotationAssertion( "HP:0009981") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 4th finger") SubClassOf( ) @@ -101125,7 +101118,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:37Z") AnnotationAssertion( "UMLS:C4024130") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the ring finger") AnnotationAssertion( "HP:0009982") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 4th finger") SubClassOf( ) @@ -101138,7 +101131,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:20:37Z") AnnotationAssertion( "UMLS:C4024129") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the ring finger") AnnotationAssertion( "HP:0009983") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 4th finger") SubClassOf( ) @@ -101151,10 +101144,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:23:38Z") AnnotationAssertion( "UMLS:C4021354") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of little finger bone") AnnotationAssertion( "Partial/complete duplication of phalanges of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of pinky finger bone") AnnotationAssertion( "HP:0009985") AnnotationAssertion(rdfs:label "Duplication of phalanx of 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -101167,9 +101160,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:20Z") AnnotationAssertion( "UMLS:C4024128") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the pinky finger bone") AnnotationAssertion( "HP:0009986") AnnotationAssertion(rdfs:label "Complete duplication of the phalanges of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101182,9 +101175,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:20Z") AnnotationAssertion( "UMLS:C4024127") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the pinky finger bone") AnnotationAssertion( "HP:0009987") AnnotationAssertion(rdfs:label "Partial duplication of the phalanges of the 5th finger") SubClassOf( ) @@ -101196,9 +101189,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:20Z") AnnotationAssertion( "UMLS:C4021353") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost pinky finger bone") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 5th finger") AnnotationAssertion( "HP:0009988") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 5th finger") @@ -101213,9 +101206,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:20Z") AnnotationAssertion( "UMLS:C4021352") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle pinky finger bone") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 5th finger") AnnotationAssertion( "HP:0009989") AnnotationAssertion(rdfs:label "Duplication of the middle phalanx of the 5th finger") @@ -101230,9 +101223,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:20Z") AnnotationAssertion( "UMLS:C4021351") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost pinky finger bone") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 5th finger") AnnotationAssertion( "HP:0009990") AnnotationAssertion(rdfs:label "Duplication of the proximal phalanx of the 5th finger") @@ -101247,9 +101240,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:33Z") AnnotationAssertion( "UMLS:C4024126") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost pinky finger bone") AnnotationAssertion( "HP:0009991") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101263,9 +101256,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:33Z") AnnotationAssertion( "UMLS:C4024125") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle pinky finger bone") AnnotationAssertion( "HP:0009992") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101279,9 +101272,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:33Z") AnnotationAssertion( "UMLS:C4024124") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost pinky finger bone") AnnotationAssertion( "HP:0009993") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101296,10 +101289,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-26T02:24:47Z") AnnotationAssertion( "UMLS:C4021350") AnnotationAssertion( "Bifid terminal phalanx of the 5th finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost pinky finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of outermost pinky finger bone") AnnotationAssertion( "HP:0009994") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 5th finger") SubClassOf( ) @@ -101312,9 +101305,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:47Z") AnnotationAssertion( "UMLS:C4024123") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle pinky finger bone") AnnotationAssertion( "HP:0009995") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 5th finger") SubClassOf( ) @@ -101327,9 +101320,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:24:47Z") AnnotationAssertion( "UMLS:C4024122") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost pinky finger bone") AnnotationAssertion( "HP:0009996") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 5th finger") SubClassOf( ) @@ -101343,7 +101336,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-26T02:28:25Z") AnnotationAssertion( "HP:0009143") AnnotationAssertion( "UMLS:C4021349") -AnnotationAssertion(Annotation( ) "Duplication of finger bones") +AnnotationAssertion(Annotation( ) "Duplication of finger bones") AnnotationAssertion( "HP:0009997") AnnotationAssertion(rdfs:label "Duplication of phalanx of hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -101356,7 +101349,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:30:16Z") AnnotationAssertion( "UMLS:C4024121") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of hand bones") AnnotationAssertion( "HP:0009998") AnnotationAssertion(rdfs:label "Complete duplication of phalanx of hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101368,7 +101361,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T02:30:35Z") AnnotationAssertion( "UMLS:C4024120") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of hand bones") AnnotationAssertion( "HP:0009999") AnnotationAssertion(rdfs:label "Partial duplication of the phalanx of hand") SubClassOf( ) @@ -101379,7 +101372,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T03:55:02Z") AnnotationAssertion( "UMLS:C4024119") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bones of the hand") AnnotationAssertion( "HP:0010000") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101392,7 +101385,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T03:55:02Z") AnnotationAssertion( "UMLS:C4024118") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bones of the hand") AnnotationAssertion( "HP:0010001") AnnotationAssertion(rdfs:comment "As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism.") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanges of the hand") @@ -101406,7 +101399,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T03:55:02Z") AnnotationAssertion( "UMLS:C4024117") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bones of the hand") AnnotationAssertion( "HP:0010002") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101419,7 +101412,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T03:55:29Z") AnnotationAssertion( "UMLS:C4024116") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bones of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bones of the hand") AnnotationAssertion( "HP:0010003") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanges of the hand") SubClassOf( ) @@ -101433,7 +101426,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006196") AnnotationAssertion( "UMLS:C4021348") AnnotationAssertion( "Bifid terminal phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the hand") AnnotationAssertion( "HP:0010004") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanges of the hand") SubClassOf( ) @@ -101445,7 +101438,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T03:55:29Z") AnnotationAssertion( "UMLS:C4024115") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bones of hand") AnnotationAssertion( "HP:0010005") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanges of the hand") SubClassOf( ) @@ -101457,7 +101450,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T05:29:46Z") AnnotationAssertion( "UMLS:C4021347") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bones of hand") AnnotationAssertion( "Partial/complete duplication of the proximal phalanges of the hand") AnnotationAssertion( "HP:0010006") AnnotationAssertion(rdfs:label "Duplication of the proximal phalanx of hand") @@ -101470,7 +101463,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-26T05:29:46Z") AnnotationAssertion( "UMLS:C4021346") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bones of hand") AnnotationAssertion( "Partial/complete duplication of the middle phalanges of the hand") AnnotationAssertion( "HP:0010008") AnnotationAssertion(rdfs:label "Duplication of the middle phalanx of hand") @@ -101485,7 +101478,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T03:35:21Z") AnnotationAssertion( "UMLS:C4024114") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 1st long bone of hand") AnnotationAssertion( "Abnormality of the 1st metacarpal") AnnotationAssertion( "HP:0010009") AnnotationAssertion(rdfs:comment "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits.") @@ -101499,7 +101492,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T03:35:21Z") AnnotationAssertion( "UMLS:C4024113") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 2nd long bone of hand") AnnotationAssertion( "Abnormality of the 2nd metacarpal") AnnotationAssertion( "HP:0010010") AnnotationAssertion(rdfs:label "Abnormal 2nd metacarpal morphology") @@ -101512,7 +101505,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T03:35:21Z") AnnotationAssertion( "UMLS:C4024112") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 3rd long bone of hand") AnnotationAssertion( "Abnormality of the 3rd metacarpal") AnnotationAssertion( "HP:0010011") AnnotationAssertion(rdfs:label "Abnormal 3rd metacarpal morphology") @@ -101525,7 +101518,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T03:35:21Z") AnnotationAssertion( "UMLS:C4024111") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 4th long bone of hand") AnnotationAssertion( "Abnormality of the 4th metacarpal") AnnotationAssertion( "HP:0010012") AnnotationAssertion(rdfs:label "Abnormal 4th metacarpal morphology") @@ -101538,7 +101531,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T03:35:21Z") AnnotationAssertion( "UMLS:C4024110") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 5th long bone of hand") AnnotationAssertion( "Abnormality of the 5th metacarpal") AnnotationAssertion( "HP:0010013") AnnotationAssertion(rdfs:label "Abnormal 5th metacarpal morphology") @@ -101551,7 +101544,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T03:43:11Z") AnnotationAssertion( "UMLS:C4024109") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010014") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -101564,7 +101557,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024108") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010015") AnnotationAssertion(rdfs:label "Absent epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -101578,7 +101571,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024107") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 1st long bone of hand") AnnotationAssertion( "HP:0010016") AnnotationAssertion(rdfs:label "Bracket epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101592,7 +101585,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024106") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010017") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101606,7 +101599,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024105") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010018") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101620,7 +101613,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024104") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010019") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101634,7 +101627,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024103") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010020") AnnotationAssertion(rdfs:label "Irregular epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101648,7 +101641,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024102") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010021") AnnotationAssertion(rdfs:label "Ivory epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101676,7 +101669,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024100") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010023") AnnotationAssertion(rdfs:label "Small epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101690,7 +101683,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4021345") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the first long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the first long bone of hand") AnnotationAssertion( "Stippling of the epiphysis of the 1st metacarpal") AnnotationAssertion( "HP:0010024") AnnotationAssertion(rdfs:label "Epiphyseal stippling of the first metacarpal") @@ -101704,7 +101697,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-27T04:02:50Z") AnnotationAssertion( "UMLS:C4024099") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 1st long bone of hand") AnnotationAssertion( "HP:0010025") AnnotationAssertion(rdfs:label "Triangular epiphysis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101718,8 +101711,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:24:30Z") AnnotationAssertion( "UMLS:C4024098") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 1st long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 1st long bone of hand") AnnotationAssertion( "HP:0010026") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101733,7 +101726,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:24:30Z") AnnotationAssertion( "UMLS:C4024097") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide 1st long bone of hand") AnnotationAssertion( "HP:0010027") AnnotationAssertion(rdfs:label "Broad 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101747,7 +101740,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:24:30Z") AnnotationAssertion( "UMLS:C4024096") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped 1st long bone of hand") AnnotationAssertion( "HP:0010028") AnnotationAssertion(rdfs:label "Bullet-shaped 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101759,7 +101752,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:24:30Z") AnnotationAssertion( "UMLS:C4024095") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved 1st long bone of hand") AnnotationAssertion( "HP:0010029") AnnotationAssertion(rdfs:label "Curved 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101784,7 +101777,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:24:30Z") AnnotationAssertion( "UMLS:C4024093") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 1st long bone of hand") AnnotationAssertion( "HP:0010031") AnnotationAssertion(rdfs:label "Patchy sclerosis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101797,7 +101790,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:24:30Z") AnnotationAssertion( "UMLS:C4024092") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped 1st long bone of hand") AnnotationAssertion( "HP:0010033") AnnotationAssertion(rdfs:comment "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).") AnnotationAssertion(rdfs:label "Triangular shaped 1st metacarpal") @@ -101818,7 +101811,7 @@ AnnotationAssertion( "Hypoplastic 1st metacarpal") AnnotationAssertion( "Short first metacarpal") AnnotationAssertion( "Short first metacarpals") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 1st long bone of hand") AnnotationAssertion( "HP:0010034") AnnotationAssertion( ) AnnotationAssertion(Annotation( ) rdfs:comment "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.") @@ -101835,7 +101828,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-27T04:25:14Z") AnnotationAssertion( "HP:0006027") AnnotationAssertion( "UMLS:C1838610") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 1st long bone of hand") AnnotationAssertion( "Absent first metacarpal") AnnotationAssertion( "HP:0010035") AnnotationAssertion(Annotation( ) rdfs:comment "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.") @@ -101852,8 +101845,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:34:44Z") AnnotationAssertion( "UMLS:C4024091") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 2nd long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 2nd long bone of hand") AnnotationAssertion( "HP:0010036") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 2nd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101866,7 +101859,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:35:04Z") AnnotationAssertion( "UMLS:C4024090") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 2nd long bone of hand") AnnotationAssertion( "HP:0010037") AnnotationAssertion(rdfs:label "Aplasia of the 2nd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101882,7 +101875,7 @@ AnnotationAssertion( "UMLS:C1969397") AnnotationAssertion( "UMLS:C4020774") AnnotationAssertion( "Rudimentary 2nd metacarpal") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 2nd long bone of hand") AnnotationAssertion( "Hypoplastic 2nd metacarpal") AnnotationAssertion( "HP:0010038") AnnotationAssertion(rdfs:label "Short 2nd metacarpal") @@ -101896,8 +101889,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:35:51Z") AnnotationAssertion( "UMLS:C4024089") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 3rd long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 3rd long bone of hand") AnnotationAssertion( "HP:0010039") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 3rd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101910,7 +101903,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:36:08Z") AnnotationAssertion( "UMLS:C4024088") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 3rd long bone of hand") AnnotationAssertion( "HP:0010040") AnnotationAssertion(rdfs:label "Aplasia of the 3rd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101928,7 +101921,7 @@ AnnotationAssertion( "UMLS:C1850631") AnnotationAssertion( "Hypoplastic 3rd metacarpal") AnnotationAssertion( "Short third metacarpals") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 3rd long bone of hand") AnnotationAssertion( "Small 3rd metacarpals") AnnotationAssertion( "HP:0010041") AnnotationAssertion(rdfs:label "Short 3rd metacarpal") @@ -101942,8 +101935,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:36:49Z") AnnotationAssertion( "UMLS:C4024087") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 4th long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 4th long bone of hand") AnnotationAssertion( "HP:0010042") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 4th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101956,7 +101949,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:37:00Z") AnnotationAssertion( "UMLS:C4024086") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 4th long bone of hand") AnnotationAssertion( "HP:0010043") AnnotationAssertion(rdfs:label "Aplasia of the 4th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101973,7 +101966,7 @@ AnnotationAssertion( "Hypoplastic fourth metacarpal") AnnotationAssertion( "Short 4th metacarpals") AnnotationAssertion( "Short fourth metacarpals") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 4th long bone of hand") AnnotationAssertion( "HP:0010044") AnnotationAssertion(rdfs:label "Short 4th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -101986,8 +101979,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-27T04:37:31Z") AnnotationAssertion( "UMLS:C4024085") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 5th long bone of hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 5th long bone of hand") AnnotationAssertion( "HP:0010045") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 5th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102001,7 +101994,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-27T04:37:44Z") AnnotationAssertion( "HP:0006103") AnnotationAssertion( "UMLS:C1867929") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 5th long bone of hand") AnnotationAssertion( "Absent 5th metacarpal") AnnotationAssertion( "HP:0010046") AnnotationAssertion(rdfs:label "Aplasia of the 5th metacarpal") @@ -102022,7 +102015,7 @@ AnnotationAssertion( "Hypoplastic 5th metacarpal") AnnotationAssertion( "Short fifth metacarpal") AnnotationAssertion( "Short fifth metacarpals") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 5th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened 5th long bone of hand") AnnotationAssertion( "HP:0010047") AnnotationAssertion(rdfs:label "Short 5th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102036,7 +102029,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-27T04:40:58Z") AnnotationAssertion( "HP:0005911") AnnotationAssertion( "UMLS:C1846473") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent long bone of hand") AnnotationAssertion( "Absent metacarpal") AnnotationAssertion( "Absent metacarpals") AnnotationAssertion( "HP:0010048") @@ -102062,7 +102055,7 @@ AnnotationAssertion( "Hypoplastic metacarpal") AnnotationAssertion( "Metacarpal hypoplasia") AnnotationAssertion( "Short metacarpals") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortened long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortened long bone of hand") AnnotationAssertion( "Shortened long bones of hand") AnnotationAssertion( "Shortened metacarpals") AnnotationAssertion( "Shortening of metacarpals") @@ -102082,7 +102075,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T11:36:44Z") AnnotationAssertion( "HP:0004700") AnnotationAssertion( "UMLS:C4021344") -AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of big toe") AnnotationAssertion( "Displacement of the hallux") AnnotationAssertion( "HP:0010051") AnnotationAssertion(rdfs:label "Deviation of the hallux") @@ -102096,7 +102089,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T11:47:46Z") AnnotationAssertion( "UMLS:C4024084") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost big toe bone") AnnotationAssertion( "Abnormality of the proximal phalanx of the hallux") AnnotationAssertion( "HP:0010052") AnnotationAssertion(rdfs:comment "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.") @@ -102110,7 +102103,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T11:49:11Z") AnnotationAssertion( "UMLS:C4024083") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the big toe") AnnotationAssertion( "HP:0010053") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102123,7 +102116,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T11:49:54Z") AnnotationAssertion( "UMLS:C4024082") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 1st long bone of foot") AnnotationAssertion( "HP:0010054") AnnotationAssertion(rdfs:comment "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal.") AnnotationAssertion(rdfs:label "Abnormality of the first metatarsal bone") @@ -102141,11 +102134,11 @@ AnnotationAssertion( "HP:0005883") AnnotationAssertion( "UMLS:C1867131") AnnotationAssertion( "Abnormally broad great toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad big toe") AnnotationAssertion( "Broad great toe") AnnotationAssertion( "Broad great toes") AnnotationAssertion(Annotation( ) "Broad halluces") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide big toe") AnnotationAssertion( "HP:0010055") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short.") @@ -102159,7 +102152,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:00:08Z") AnnotationAssertion( "UMLS:C4024081") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the big toe bone") AnnotationAssertion( "HP:0010056") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -102171,7 +102164,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:00:08Z") AnnotationAssertion( "UMLS:C4024080") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal big toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal big toe bones") AnnotationAssertion( "Abnormality of the phalanges of the hallux") AnnotationAssertion( "HP:0010057") AnnotationAssertion(rdfs:label "Abnormal hallux phalanx morphology") @@ -102184,8 +102177,8 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "UMLS:C4024079") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small big toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped big toe bone") AnnotationAssertion( "HP:0010058") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102199,9 +102192,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "UMLS:C4021343") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bone of big toe") AnnotationAssertion( "Broad phalanges of the hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide bone of big toe") AnnotationAssertion( "HP:0010059") AnnotationAssertion(rdfs:label "Broad hallux phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102214,7 +102207,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "UMLS:C4021342") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bone of big toe") AnnotationAssertion( "Bullet-shaped phalanges of the hallux") AnnotationAssertion( "HP:0010060") AnnotationAssertion(rdfs:label "Bullet-shaped hallux phalanx") @@ -102228,7 +102221,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "UMLS:C4021341") -AnnotationAssertion(Annotation( ) Annotation( ) "Curve bones of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curve bones of big toe") AnnotationAssertion( "Curved phalanges of the hallux") AnnotationAssertion( "HP:0010061") AnnotationAssertion(rdfs:label "Curved hallux phalanx") @@ -102254,7 +102247,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "UMLS:C4021340") AnnotationAssertion( "Patchy sclerosis of the phalanges of the hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in big toe bone") AnnotationAssertion( "HP:0010063") AnnotationAssertion(rdfs:label "Patchy sclerosis of hallux phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102268,7 +102261,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "HP:0004687") AnnotationAssertion( "UMLS:C1836216") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused big toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused big toe bones") AnnotationAssertion( "hallucal symphalangism") AnnotationAssertion( "HP:0010064") AnnotationAssertion(rdfs:label "Symphalangism affecting the phalanges of the hallux") @@ -102282,7 +102275,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:10:46Z") AnnotationAssertion( "UMLS:C4024077") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bones of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bones of big toe") AnnotationAssertion( "HP:0010065") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102300,8 +102293,8 @@ AnnotationAssertion( "UMLS:C1860164") AnnotationAssertion( "UMLS:C4020691") AnnotationAssertion( "Duplicated hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of big toe bone") -AnnotationAssertion(Annotation( ) "Duplication of great toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of big toe bone") +AnnotationAssertion(Annotation( ) "Duplication of great toes") AnnotationAssertion( "Duplication of phalanx of big toe") AnnotationAssertion( "Hallucal duplication") AnnotationAssertion( "Partial/complete duplication of the phalanges of the hallux") @@ -102317,8 +102310,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C4024076") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 1st long bone of foot") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 1st long bone of foot") AnnotationAssertion( "HP:0010067") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102335,7 +102328,7 @@ AnnotationAssertion( "UMLS:C1855899") AnnotationAssertion( "Broad 1st metatarsal") AnnotationAssertion( "Enlarged first metatarsal") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide 1st long bone of foot") AnnotationAssertion( "HP:0010068") AnnotationAssertion(rdfs:label "Broad first metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102348,7 +102341,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C4024075") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped 1st long bone of foot") AnnotationAssertion( "HP:0010069") AnnotationAssertion(rdfs:label "Bullet-shaped 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102360,7 +102353,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C4024074") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved 1st long bone of foot") AnnotationAssertion( "HP:0010070") AnnotationAssertion(rdfs:label "Curved 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102384,7 +102377,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C4024072") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density of the 1st long bone of foot") AnnotationAssertion( "HP:0010072") AnnotationAssertion(rdfs:label "Patchy sclerosis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102398,7 +102391,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C4024071") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving the 1st long bone of foot") AnnotationAssertion( "HP:0010073") AnnotationAssertion(rdfs:label "Synostosis involving the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102409,7 +102402,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C4024070") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped 1st long bone of foot") AnnotationAssertion( "HP:0010074") AnnotationAssertion(rdfs:label "Triangular shaped 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102422,7 +102415,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:13:57Z") AnnotationAssertion( "UMLS:C1851855") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplicated 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplicated 1st long bone of foot") AnnotationAssertion( "Duplicated first metatarsals") AnnotationAssertion( "HP:0010075") AnnotationAssertion(rdfs:label "Duplication of the 1st metatarsal") @@ -102435,8 +102428,8 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024069") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost big toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost big toe bone") AnnotationAssertion( "HP:0010076") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102450,8 +102443,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024068") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of big toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of big toe") AnnotationAssertion( "HP:0010077") AnnotationAssertion(rdfs:label "Broad distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102465,7 +102458,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024067") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of big toe") AnnotationAssertion( "HP:0010078") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102479,7 +102472,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024066") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of big toe") AnnotationAssertion( "HP:0010079") AnnotationAssertion(rdfs:label "Curved distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102504,7 +102497,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024064") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of big toe") AnnotationAssertion( "HP:0010081") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102517,7 +102510,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024063") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of big toe") AnnotationAssertion( "HP:0010082") AnnotationAssertion(rdfs:label "Symphalangism affecting the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102531,7 +102524,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4024062") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the big toe") AnnotationAssertion( "HP:0010083") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102544,7 +102537,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:16:28Z") AnnotationAssertion( "UMLS:C4021339") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of big toe") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the hallux") AnnotationAssertion( "HP:0010084") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the hallux") @@ -102558,8 +102551,8 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024061") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost big toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost big toe bone") AnnotationAssertion( "HP:0010085") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102573,7 +102566,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4021338") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the big toe") AnnotationAssertion( "Broad proximal phalanx of the big toe") AnnotationAssertion( "HP:0010086") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the hallux") @@ -102588,7 +102581,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024060") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of the big toe") AnnotationAssertion( "HP:0010087") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102602,7 +102595,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024059") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of the big toe") AnnotationAssertion( "HP:0010088") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102627,7 +102620,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024057") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the big toe") AnnotationAssertion( "HP:0010090") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102641,7 +102634,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024056") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of big toe") AnnotationAssertion( "HP:0010091") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102654,7 +102647,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024055") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost bone of big toe") AnnotationAssertion( "HP:0010092") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102668,7 +102661,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:17:16Z") AnnotationAssertion( "UMLS:C4024054") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of big toe") AnnotationAssertion( "HP:0010093") AnnotationAssertion(rdfs:label "Duplication of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -102682,7 +102675,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:18:59Z") AnnotationAssertion( "UMLS:C4024053") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of big toe") AnnotationAssertion( "HP:0010094") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102695,7 +102688,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:18:59Z") AnnotationAssertion( "UMLS:C4024052") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of big toe") AnnotationAssertion( "HP:0010095") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the hallux") SubClassOf( ) @@ -102706,7 +102699,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:19:30Z") AnnotationAssertion( "UMLS:C4024051") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the big toe") AnnotationAssertion( "HP:0010096") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102720,8 +102713,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008091") AnnotationAssertion( "UMLS:C4021337") AnnotationAssertion( "Bifid distal phalanx of hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of big toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of big toe") AnnotationAssertion( "HP:0010097") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the hallux") SubClassOf( ) @@ -102734,7 +102727,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T12:20:12Z") AnnotationAssertion( "HP:0008121") AnnotationAssertion( "UMLS:C4024050") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the 1st long bone of foot") AnnotationAssertion( "HP:0010098") AnnotationAssertion(rdfs:label "Complete duplication of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102746,7 +102739,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:20:12Z") AnnotationAssertion( "UMLS:C4024049") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the 1st long bone of foot") AnnotationAssertion( "HP:0010099") AnnotationAssertion(rdfs:label "Partial duplication of the 1st metatarsal") SubClassOf( ) @@ -102758,7 +102751,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:22:12Z") AnnotationAssertion( "UMLS:C4021336") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of big toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of big toe bones") AnnotationAssertion( "Complete duplication of the phalanges of the hallux") AnnotationAssertion( "HP:0010100") AnnotationAssertion(rdfs:label "Complete duplication of hallux phalanx") @@ -102771,7 +102764,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T12:22:12Z") AnnotationAssertion( "HP:0004678") AnnotationAssertion( "UMLS:C1855005") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of big toe") AnnotationAssertion( "partial duplication of hallux") AnnotationAssertion( "HP:0010101") AnnotationAssertion(rdfs:label "Partial duplication of the phalanges of the hallux") @@ -102782,7 +102775,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:41:37Z") AnnotationAssertion( "UMLS:C4024048") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of big toe") AnnotationAssertion( "HP:0010102") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102799,7 +102792,7 @@ AnnotationAssertion( "Hypoplastic/small distal phalanx of the hallux") AnnotationAssertion( "Small distal phalanx of big toe") AnnotationAssertion( "Small distal phalanx of hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Small outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small outermost bone of big toe") AnnotationAssertion( "HP:0010103") AnnotationAssertion(rdfs:label "Short distal phalanx of hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102813,7 +102806,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T12:42:09Z") AnnotationAssertion( "HP:0006124") AnnotationAssertion( "UMLS:C1863382") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 1st long bone of foot") AnnotationAssertion( "Absent 1st metatarsal") AnnotationAssertion( "Aplasia of the 1st metatarsal") AnnotationAssertion( "HP:0010104") @@ -102831,7 +102824,7 @@ AnnotationAssertion( "UMLS:C1841688") AnnotationAssertion( "First metatarsal hypoplasia") AnnotationAssertion( "First metatarsals hypoplastic") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 1st long bone of foot") AnnotationAssertion( "HP:0010105") AnnotationAssertion(rdfs:label "Short first metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102843,7 +102836,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:43:40Z") AnnotationAssertion( "UMLS:C4024047") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of big toe") AnnotationAssertion( "HP:0010106") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102860,7 +102853,7 @@ AnnotationAssertion( "HP:0008129") AnnotationAssertion( "UMLS:C1862159") AnnotationAssertion( "Hypoplastic proximal phalanx of the hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost big toe bone") AnnotationAssertion( "Short proximal phalanges of halluces") AnnotationAssertion( "Short proximal phalanx of halluces") AnnotationAssertion( "Small proximal phalanx of big toe") @@ -102883,7 +102876,7 @@ AnnotationAssertion( "UMLS:C1865992") AnnotationAssertion( "Hypoplastic big toes") AnnotationAssertion( "Hypoplastic hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Short big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short big toe") AnnotationAssertion( "Short halluces") AnnotationAssertion( "Small hallux") AnnotationAssertion( "HP:0010109") @@ -102897,7 +102890,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T12:49:19Z") AnnotationAssertion( "UMLS:C4024046") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bone of big toe") AnnotationAssertion( "HP:0010110") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102910,8 +102903,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T12:49:19Z") AnnotationAssertion( "UMLS:C4021334") -AnnotationAssertion(Annotation( ) "Hypoplastic phalanges of the hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Short bone of big toe") +AnnotationAssertion(Annotation( ) "Hypoplastic phalanges of the hallux") +AnnotationAssertion(Annotation( ) Annotation( ) "Short bone of big toe") AnnotationAssertion( "HP:0010111") AnnotationAssertion(rdfs:label "Short phalanx of hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -102925,7 +102918,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:11:06Z") AnnotationAssertion( "UMLS:C4021333") -AnnotationAssertion(Annotation( ) "Central polydactyly of feet") +AnnotationAssertion(Annotation( ) "Central polydactyly of feet") AnnotationAssertion( "HP:0010112") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Mesoaxial foot polydactyly") @@ -102939,7 +102932,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4020906") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of big toe bone") AnnotationAssertion( "Absent epiphyses of the hallux") AnnotationAssertion( "HP:0010113") AnnotationAssertion(rdfs:label "Absent hallux epiphysis") @@ -102952,7 +102945,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024045") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of big toe bone") AnnotationAssertion( "HP:0010114") AnnotationAssertion(rdfs:label "Bracket epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -102964,7 +102957,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024044") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the big toe bone") AnnotationAssertion( "HP:0010115") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -102976,7 +102969,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024043") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the big toe bone") AnnotationAssertion( "HP:0010116") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -102988,7 +102981,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024042") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the big toe bone") AnnotationAssertion( "HP:0010117") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103000,7 +102993,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024041") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of big toe bone") AnnotationAssertion( "HP:0010118") AnnotationAssertion(rdfs:label "Irregular epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103012,7 +103005,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024040") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the big toe bone") AnnotationAssertion( "HP:0010119") AnnotationAssertion(rdfs:label "Ivory epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103035,7 +103028,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024038") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the big toe bone") AnnotationAssertion( "HP:0010121") AnnotationAssertion(rdfs:label "Small epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103048,7 +103041,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024037") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the big toe bone") AnnotationAssertion( "HP:0010122") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103060,7 +103053,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:16:38Z") AnnotationAssertion( "UMLS:C4024036") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the big toe bone") AnnotationAssertion( "HP:0010123") AnnotationAssertion(rdfs:label "Triangular epiphyses of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103072,7 +103065,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:17:54Z") AnnotationAssertion( "UMLS:C4024035") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the big toe bone") AnnotationAssertion( "HP:0010124") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103084,7 +103077,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:17:54Z") AnnotationAssertion( "UMLS:C4024034") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010125") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103096,7 +103089,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:17:54Z") AnnotationAssertion( "UMLS:C4024033") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010126") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103108,7 +103101,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024032") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010127") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103121,7 +103114,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024031") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of big toe") AnnotationAssertion( "HP:0010128") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103133,7 +103126,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024030") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010129") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103145,7 +103138,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024029") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010130") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103157,7 +103150,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024028") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010131") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103169,7 +103162,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024027") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010132") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103181,7 +103174,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024026") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010133") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103205,7 +103198,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024024") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010135") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103218,7 +103211,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024023") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010136") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103230,7 +103223,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:23Z") AnnotationAssertion( "UMLS:C4024022") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the big toe") AnnotationAssertion( "HP:0010137") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103243,7 +103236,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024021") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010138") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103256,7 +103249,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024020") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of big toe") AnnotationAssertion( "HP:0010139") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103268,7 +103261,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024019") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010140") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103280,7 +103273,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024018") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010141") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103292,7 +103285,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024017") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010142") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103304,7 +103297,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024016") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010143") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103316,7 +103309,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024015") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010144") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103339,7 +103332,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024013") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010146") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103352,7 +103345,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024012") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010147") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103364,7 +103357,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:22:47Z") AnnotationAssertion( "UMLS:C4024011") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the big toe") AnnotationAssertion( "HP:0010148") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103377,7 +103370,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024010") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010149") AnnotationAssertion(rdfs:label "Absent epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103389,7 +103382,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024009") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 1st long bone of foot") AnnotationAssertion( "HP:0010150") AnnotationAssertion(rdfs:label "Bracket epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103401,7 +103394,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024008") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010151") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103414,7 +103407,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024007") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010152") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103426,7 +103419,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024006") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010153") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103438,7 +103431,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024005") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010154") AnnotationAssertion(rdfs:label "Irregular epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103451,7 +103444,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024004") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010155") AnnotationAssertion(rdfs:label "Ivory epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103473,7 +103466,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024002") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010157") AnnotationAssertion(rdfs:label "Small epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103484,7 +103477,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024001") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010158") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103495,7 +103488,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:24:17Z") AnnotationAssertion( "UMLS:C4024000") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 1st long bone of foot") AnnotationAssertion( "HP:0010159") AnnotationAssertion(rdfs:label "Triangular epiphysis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103506,7 +103499,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:30:42Z") AnnotationAssertion( "UMLS:C4023999") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the toe bones") AnnotationAssertion( "Abnormality of the epiphyses of the toes") AnnotationAssertion( "HP:0010160") AnnotationAssertion(rdfs:label "Abnormal toe epiphysis morphology") @@ -103519,7 +103512,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:31:17Z") AnnotationAssertion( "UMLS:C4023998") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the long bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the long bones of the toes") AnnotationAssertion( "Abnormality of the phalanges of the toes") AnnotationAssertion( "HP:0010161") AnnotationAssertion(rdfs:label "Abnormal toe phalanx morphology") @@ -103532,7 +103525,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023997") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the toe bones") AnnotationAssertion( "HP:0010162") AnnotationAssertion(rdfs:label "Absent epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103544,7 +103537,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023996") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the toe bones") AnnotationAssertion( "HP:0010163") AnnotationAssertion(rdfs:label "Bracket epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103556,7 +103549,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023995") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the toe bones") AnnotationAssertion( "HP:0010164") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103568,7 +103561,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023994") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the toe bones") AnnotationAssertion( "HP:0010165") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103580,7 +103573,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023993") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the toe bones") AnnotationAssertion( "HP:0010166") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103592,7 +103585,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023992") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the toe bones") AnnotationAssertion( "HP:0010167") AnnotationAssertion(rdfs:label "Irregular epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103604,7 +103597,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023991") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the toes") AnnotationAssertion( "HP:0010168") AnnotationAssertion(rdfs:label "Ivory epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103627,7 +103620,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023989") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the toe bones") AnnotationAssertion( "HP:0010170") AnnotationAssertion(rdfs:label "Small epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103640,7 +103633,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4021332") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in long toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in long toe bones") AnnotationAssertion( "Stippling of the epiphyses of the toes") AnnotationAssertion( "HP:0010171") AnnotationAssertion(rdfs:label "Epiphyseal stippling of toe phalanges") @@ -103653,7 +103646,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:34:06Z") AnnotationAssertion( "UMLS:C4023988") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the toe bones") AnnotationAssertion( "HP:0010172") AnnotationAssertion(rdfs:label "Triangular epiphyses of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -103665,8 +103658,8 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4023987") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped toe bones") AnnotationAssertion( "HP:0010173") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103679,7 +103672,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4023986") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide toe bones") AnnotationAssertion( "HP:0010174") AnnotationAssertion(rdfs:label "Broad phalanx of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103693,8 +103686,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4021331") -AnnotationAssertion(Annotation( ) "Bullet-shaped phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped toe bone") +AnnotationAssertion(Annotation( ) "Bullet-shaped phalanges of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped toe bone") AnnotationAssertion( "HP:0010175") AnnotationAssertion(rdfs:label "Bullet-shaped toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103707,7 +103700,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4021330") AnnotationAssertion( "Curved phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved toe bone") AnnotationAssertion( "HP:0010176") AnnotationAssertion(rdfs:label "Curved toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103731,7 +103724,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4021329") AnnotationAssertion( "Patchy sclerosis of the phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in toe bone") AnnotationAssertion( "HP:0010178") AnnotationAssertion(rdfs:label "Patchy sclerosis of toe phalanx") SubClassOf( ) @@ -103742,7 +103735,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4023984") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused toe bones") AnnotationAssertion( "HP:0010179") AnnotationAssertion(rdfs:label "Symphalangism affecting the phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103753,7 +103746,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4023983") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped toe bones") AnnotationAssertion( "HP:0010180") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103765,7 +103758,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:39:26Z") AnnotationAssertion( "UMLS:C4021328") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplicated toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplicated toe bone") AnnotationAssertion( "Partial/complete duplication of the phalanges of the toes") AnnotationAssertion( "HP:0010181") AnnotationAssertion(rdfs:label "Duplication of phalanx of toe") @@ -103777,7 +103770,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:51:38Z") AnnotationAssertion( "UMLS:C4023982") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the toes") AnnotationAssertion( "HP:0010182") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103788,7 +103781,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:51:38Z") AnnotationAssertion( "UMLS:C4023981") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle bones of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal middle bones of toe") AnnotationAssertion( "HP:0010183") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103800,7 +103793,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:51:38Z") AnnotationAssertion( "UMLS:C4021327") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost toe bone") AnnotationAssertion( "Abnormality of the proximal phalanges of the toes") AnnotationAssertion( "HP:0010184") AnnotationAssertion(rdfs:label "Abnormality of toe proximal phalanx") @@ -103817,8 +103810,8 @@ AnnotationAssertion( "UMLS:C4020773") AnnotationAssertion( "UMLS:C4021326") AnnotationAssertion( "Absent/hypoplastic terminal phalanges of toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bones of toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost bones of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bones of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost bones of toe") AnnotationAssertion( "Hypoplasia/agenesis of distal phalanges of toes") AnnotationAssertion( "HP:0010185") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanges of the toes") @@ -103833,8 +103826,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4023980") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the toe") AnnotationAssertion( "HP:0010186") AnnotationAssertion(rdfs:label "Broad distal phalanx of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103848,7 +103841,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4021325") AnnotationAssertion( "Bullet-shaped distal phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the toe") AnnotationAssertion( "HP:0010187") AnnotationAssertion(rdfs:label "Bullet-shaped distal toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103862,7 +103855,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4021324") AnnotationAssertion( "Curved distal phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the toe") AnnotationAssertion( "HP:0010188") AnnotationAssertion(rdfs:label "Curved distal toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103887,7 +103880,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4021323") AnnotationAssertion( "Patchy sclerosis of the distal phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in outermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in outermost toe bone") AnnotationAssertion( "HP:0010190") AnnotationAssertion(rdfs:label "Patchy sclerosis of distal toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103899,7 +103892,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4023978") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of toes") AnnotationAssertion( "HP:0010191") AnnotationAssertion(rdfs:label "Symphalangism affecting the distal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103911,7 +103904,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4023977") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the toes") AnnotationAssertion( "HP:0010192") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103924,7 +103917,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:52:41Z") AnnotationAssertion( "UMLS:C4021322") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of outermost bone of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of outermost bone of toe") AnnotationAssertion( "Partial/complete duplication of the distal phalanges of the toes") AnnotationAssertion( "HP:0010193") AnnotationAssertion(rdfs:label "Duplication of distal phalanx of toe") @@ -103936,8 +103929,8 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4023976") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bones of toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bones of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bones of toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bones of toe") AnnotationAssertion( "HP:0010194") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103949,7 +103942,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4023975") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bones of the toes") AnnotationAssertion( "HP:0010195") AnnotationAssertion(rdfs:label "Broad middle phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -103962,7 +103955,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4021321") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bones of the toes") AnnotationAssertion( "Bullet-shaped middle phalanges of the toes") AnnotationAssertion( "HP:0010196") AnnotationAssertion(rdfs:label "Bullet-shaped middle toe phalanx") @@ -104002,7 +103995,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4021319") AnnotationAssertion( "Patchy sclerosis of the middle phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in middle toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in middle toe bone") AnnotationAssertion( "HP:0010199") AnnotationAssertion(rdfs:label "Patchy sclerosis of middle toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104014,7 +104007,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4023973") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of toes") AnnotationAssertion( "HP:0010200") AnnotationAssertion(rdfs:label "Symphalangism affecting the middle phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104026,7 +104019,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4023972") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bones of toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bones of toes") AnnotationAssertion( "HP:0010201") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104039,7 +104032,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:53:35Z") AnnotationAssertion( "UMLS:C4021318") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the middle bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial/complete duplication of the middle bones of the toes") AnnotationAssertion( "Partial/complete duplication of the middle phalanges of the toes") AnnotationAssertion( "HP:0010202") AnnotationAssertion(rdfs:label "Duplication of middle phalanx of toe") @@ -104052,8 +104045,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4021317") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost toe bones") AnnotationAssertion( "Aplasia/Hypoplasia of the proximal phalanges of the toes") AnnotationAssertion( "HP:0010203") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of proximal toe phalanx") @@ -104067,7 +104060,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4023971") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost toe bone") AnnotationAssertion( "HP:0010204") AnnotationAssertion(rdfs:label "Broad proximal phalanx of toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104080,7 +104073,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4021316") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost toe bone") AnnotationAssertion( "Bullet-shaped proximal phalanges of the toes") AnnotationAssertion( "Bullet-shaped proximal phalanges of toe") AnnotationAssertion( "HP:0010205") @@ -104095,7 +104088,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4021315") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost toe bones") AnnotationAssertion( "Curved proximal phalanges of the toes") AnnotationAssertion( "HP:0010206") AnnotationAssertion(rdfs:label "Curved proximal toe phalanx") @@ -104123,7 +104116,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4021313") AnnotationAssertion( "Patchy sclerosis of the proximal phalanges of the toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in innermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in innermost toe bone") AnnotationAssertion( "HP:0010208") AnnotationAssertion(rdfs:label "Patchy sclerosis of proximal toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104135,7 +104128,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4023970") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of toes") AnnotationAssertion( "HP:0010209") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104147,7 +104140,7 @@ SubClassOf( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4023969") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost toe bones") AnnotationAssertion( "HP:0010210") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104160,7 +104153,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-29T01:54:18Z") AnnotationAssertion( "UMLS:C4021312") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of innermost toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of innermost toe bones") AnnotationAssertion( "Partial/complete duplication of the proximal phalanges of the toes") AnnotationAssertion( "HP:0010211") AnnotationAssertion(rdfs:label "Duplication of proximal phalanx of toe") @@ -104173,7 +104166,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-06-02T01:39:18Z") AnnotationAssertion( "UMLS:C4021311") -AnnotationAssertion(Annotation( ) Annotation( ) "Joint contracture of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Joint contracture of the big toe") AnnotationAssertion( "Joint contracture of the hallux") AnnotationAssertion( "HP:0010212") AnnotationAssertion(rdfs:label "Flexion contracture of the hallux") @@ -104230,7 +104223,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-02T04:07:33Z") AnnotationAssertion( "UMLS:C4023964") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 2nd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 2nd long bone of hand") AnnotationAssertion( "HP:0010220") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the 2nd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104248,7 +104241,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-02T04:10:28Z") AnnotationAssertion( "UMLS:C4023962") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 3rd long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 3rd long bone of hand") AnnotationAssertion( "HP:0010222") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the 3rd metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104270,7 +104263,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-02T04:11:46Z") AnnotationAssertion( "UMLS:C4023960") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 4th long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 4th long bone of hand") AnnotationAssertion( "HP:0010224") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the 4th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104292,9 +104285,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-02T04:13:00Z") AnnotationAssertion( "UMLS:C4023958") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the long bone of little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the long bone of pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the long bone of pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the long bone of little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the long bone of pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the long bone of pinky finger") AnnotationAssertion( "HP:0010226") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the 5th metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104317,7 +104310,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T03:31:52Z") AnnotationAssertion( "HP:0009359") AnnotationAssertion( "UMLS:C4021310") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of fingers") AnnotationAssertion( "Absent epiphyses of the fingers") AnnotationAssertion( "HP:0010228") AnnotationAssertion(rdfs:label "Absent epiphyses of the phalanges of the hand") @@ -104333,7 +104326,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009360") AnnotationAssertion( "UMLS:C4021309") AnnotationAssertion( "Bracket epiphyses of the fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of finger bones") AnnotationAssertion( "HP:0010229") AnnotationAssertion(rdfs:label "Bracket epiphyses of the phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104352,7 +104345,7 @@ AnnotationAssertion( "HP:0005803") AnnotationAssertion( "HP:0009361") AnnotationAssertion( "UMLS:C1859480") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of finger bones") AnnotationAssertion( "Cone-shaped epiphyses of hand") AnnotationAssertion( "Cone-shaped epiphyses of the fingers") AnnotationAssertion( "Coned epiphyses of hands") @@ -104371,7 +104364,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006023") AnnotationAssertion( "HP:0009362") AnnotationAssertion( "UMLS:C1865036") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of finger bones") AnnotationAssertion( "Enlarged epiphyses of the fingers") AnnotationAssertion( "Enlarged phalangeal epiphyses") AnnotationAssertion( "HP:0010231") @@ -104387,7 +104380,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T03:31:52Z") AnnotationAssertion( "HP:0009363") AnnotationAssertion( "UMLS:C4021308") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of end part of finger bones") AnnotationAssertion( "Fragmentation of the epiphyses of the fingers") AnnotationAssertion( "HP:0010232") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the phalanges of the hand") @@ -104402,7 +104395,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T03:31:52Z") AnnotationAssertion( "HP:0009364") AnnotationAssertion( "UMLS:C4021307") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of finger bones") AnnotationAssertion( "Irregular epiphyses of the fingers") AnnotationAssertion( "HP:0010233") AnnotationAssertion(rdfs:label "Irregular epiphyses of the phalanges of the hand") @@ -104418,7 +104411,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0001210") AnnotationAssertion( "HP:0009365") AnnotationAssertion( "UMLS:C1857651") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the hand bones") AnnotationAssertion( "Ivory epiphyses of the fingers") AnnotationAssertion( "Sclerotic ivory phalangeal epiphyses") AnnotationAssertion( "HP:0010234") @@ -104449,7 +104442,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T03:31:52Z") AnnotationAssertion( "HP:0009367") AnnotationAssertion( "UMLS:C4021305") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of finger bones") AnnotationAssertion( "Small epiphyses of the fingers") AnnotationAssertion( "HP:0010236") AnnotationAssertion(rdfs:label "Small epiphyses of the phalanges of the hand") @@ -104464,7 +104457,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T03:31:52Z") AnnotationAssertion( "HP:0009368") AnnotationAssertion( "UMLS:C4021304") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of finger bones") AnnotationAssertion( "Stippling of the epiphyses of the fingers") AnnotationAssertion( "Stippling of the epiphyses of the phalanges of the hand") AnnotationAssertion( "HP:0010237") @@ -104482,7 +104475,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0009369") AnnotationAssertion( "UMLS:C4021303") AnnotationAssertion( "Delta-shaped epiphyses of the fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of finger bones") AnnotationAssertion( "Triangular epiphyses of the fingers") AnnotationAssertion( "HP:0010238") AnnotationAssertion(rdfs:label "Triangular epiphyses of the phalanges of the hand") @@ -104497,7 +104490,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T03:59:39Z") AnnotationAssertion( "HP:0005778") AnnotationAssertion( "UMLS:C1862096") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bones of hand") AnnotationAssertion( "Absent middle phalanges") AnnotationAssertion( "Missing middle phalanges") AnnotationAssertion( "HP:0010239") @@ -104516,9 +104509,9 @@ AnnotationAssertion( "HP:0006138") AnnotationAssertion( "UMLS:C1860606") AnnotationAssertion( "Hypoplasia of the proximal phalanges of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost finger bones") AnnotationAssertion( "Short proximal phalanges") -AnnotationAssertion(Annotation( ) "Short proximal phalanx of finger") +AnnotationAssertion(Annotation( ) "Short proximal phalanx of finger") AnnotationAssertion( "Shortening in proximal phalanges") AnnotationAssertion( "HP:0010241") AnnotationAssertion(rdfs:label "Short proximal phalanx of finger") @@ -104533,7 +104526,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-06T04:01:02Z") AnnotationAssertion( "HP:0006102") AnnotationAssertion( "UMLS:C4021302") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bones") AnnotationAssertion( "Absent proximal phalanges") AnnotationAssertion( "HP:0010242") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanges of the hand") @@ -104548,7 +104541,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:21:32Z") AnnotationAssertion( "UMLS:C4023956") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of finger") AnnotationAssertion( "HP:0010243") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the distal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104560,7 +104553,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:21:32Z") AnnotationAssertion( "UMLS:C4023955") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle hand bones") AnnotationAssertion( "HP:0010244") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104572,7 +104565,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:21:32Z") AnnotationAssertion( "UMLS:C4023954") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost hand bones") AnnotationAssertion( "HP:0010245") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104584,7 +104577,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023953") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost hand bones") AnnotationAssertion( "HP:0010246") AnnotationAssertion(rdfs:label "Absent epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104597,7 +104590,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023952") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost hand bones") AnnotationAssertion( "HP:0010247") AnnotationAssertion(rdfs:label "Bracket epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104609,7 +104602,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023951") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost hand bones") AnnotationAssertion( "HP:0010248") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104621,7 +104614,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023950") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost hand bones") AnnotationAssertion( "HP:0010249") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104633,7 +104626,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023949") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost hand bones") AnnotationAssertion( "HP:0010250") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104645,7 +104638,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023948") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost hand bones") AnnotationAssertion( "HP:0010251") AnnotationAssertion(rdfs:label "Irregular epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104660,7 +104653,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006105") AnnotationAssertion( "UMLS:C4021301") AnnotationAssertion( "Eburnated epiphyses of distal phalanges") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost hand bones") AnnotationAssertion( "HP:0010252") AnnotationAssertion(rdfs:label "Ivory epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104685,7 +104678,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023946") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost hand bones") AnnotationAssertion( "HP:0010254") AnnotationAssertion(rdfs:label "Small epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104697,7 +104690,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023945") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost hand bones") AnnotationAssertion( "HP:0010255") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104709,7 +104702,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:23:06Z") AnnotationAssertion( "UMLS:C4023944") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost hand bones") AnnotationAssertion( "HP:0010256") AnnotationAssertion(rdfs:label "Triangular epiphyses of the distal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104721,7 +104714,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023943") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle hand bones") AnnotationAssertion( "HP:0010257") AnnotationAssertion(rdfs:label "Absent epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -104734,7 +104727,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023942") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle hand bones") AnnotationAssertion( "HP:0010258") AnnotationAssertion(rdfs:label "Bracket epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104748,7 +104741,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006033") AnnotationAssertion( "HP:0006058") AnnotationAssertion( "UMLS:C1860828") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle hand bones") AnnotationAssertion( "Cone-shaped epiphyses of middle phalanges") AnnotationAssertion( "HP:0010259") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the middle phalanges of the hand") @@ -104761,7 +104754,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023941") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle hand bones") AnnotationAssertion( "HP:0010260") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104774,7 +104767,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023940") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle hand bones") AnnotationAssertion( "HP:0010261") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104786,7 +104779,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023939") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of middle hand bones") AnnotationAssertion( "HP:0010262") AnnotationAssertion(rdfs:label "Irregular epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104799,7 +104792,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023938") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle hand bones") AnnotationAssertion( "HP:0010263") AnnotationAssertion(rdfs:label "Ivory epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104824,7 +104817,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023936") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle hand bones") AnnotationAssertion( "HP:0010265") AnnotationAssertion(rdfs:label "Small epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104836,7 +104829,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023935") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the middle hand bones") AnnotationAssertion( "HP:0010266") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104848,7 +104841,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:24:15Z") AnnotationAssertion( "UMLS:C4023934") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle hand bones") AnnotationAssertion( "HP:0010267") AnnotationAssertion(rdfs:label "Triangular epiphyses of the middle phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104860,7 +104853,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023933") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost hand bones") AnnotationAssertion( "HP:0010268") AnnotationAssertion(rdfs:label "Absent epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104873,7 +104866,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023932") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost hand bones") AnnotationAssertion( "HP:0010269") AnnotationAssertion(rdfs:label "Bracket epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104885,7 +104878,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023931") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost hand bones") AnnotationAssertion( "HP:0010270") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104897,7 +104890,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023930") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost hand bones") AnnotationAssertion( "HP:0010271") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104909,7 +104902,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023929") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost hand bones") AnnotationAssertion( "HP:0010272") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104921,7 +104914,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023928") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost hand bones") AnnotationAssertion( "HP:0010273") AnnotationAssertion(rdfs:label "Irregular epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104934,7 +104927,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023927") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost hand bones") AnnotationAssertion( "HP:0010274") AnnotationAssertion(rdfs:label "Ivory epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104959,7 +104952,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023925") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost hand bones") AnnotationAssertion( "HP:0010276") AnnotationAssertion(rdfs:label "Small epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104971,7 +104964,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023924") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost hand bones") AnnotationAssertion( "HP:0010277") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -104983,7 +104976,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-06T04:25:12Z") AnnotationAssertion( "UMLS:C4023923") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost hand bones") AnnotationAssertion( "HP:0010278") AnnotationAssertion(rdfs:label "Triangular epiphyses of the proximal phalanges of the hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105000,7 +104993,7 @@ AnnotationAssertion( "SNOMEDCT_US:61170000") AnnotationAssertion( "UMLS:C0038362") AnnotationAssertion( "UMLS:C0149704") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the mouth") AnnotationAssertion(Annotation( ) "Gingivostomatitis") AnnotationAssertion( "HP:0010280") AnnotationAssertion( ) @@ -105015,8 +105008,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T09:50:34Z") AnnotationAssertion( "UMLS:C1856026") -AnnotationAssertion(Annotation( ) "Cleft lower lip") -AnnotationAssertion(Annotation( ) "Cleft of the lower lip") +AnnotationAssertion(Annotation( ) "Cleft lower lip") +AnnotationAssertion(Annotation( ) "Cleft of the lower lip") AnnotationAssertion(Annotation( ) "Lower labial cleft") AnnotationAssertion( "HP:0010281") AnnotationAssertion( ) @@ -105032,11 +105025,11 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-12T10:17:22Z") AnnotationAssertion( "UMLS:C2053440") AnnotationAssertion(Annotation( ) "Decreased height of lower lip vermilion") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased volume of lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased volume of lower lip") AnnotationAssertion(Annotation( ) "Decreased volume of lower lip vermilion") -AnnotationAssertion(Annotation( ) "Thin lower lip") +AnnotationAssertion(Annotation( ) "Thin lower lip") AnnotationAssertion(Annotation( ) "Thin vermilion border of lower lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin red part of the lower lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin red part of the lower lip") AnnotationAssertion( "HP:0010282") AnnotationAssertion(rdfs:comment "Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual.") AnnotationAssertion(rdfs:label "Thin lower lip vermilion") @@ -105058,11 +105051,11 @@ AnnotationAssertion( ) "Hyperpigmentation of oral mucosa") AnnotationAssertion(Annotation( ) "Oral mucosa melanin pigmentation") AnnotationAssertion(Annotation( ) "Oral racial pigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Dark color of gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Dark color of gums") AnnotationAssertion(Annotation( ) "Dark colour of gums") AnnotationAssertion(Annotation( ) "Gingival hyperpigmentation") AnnotationAssertion(Annotation( ) "Gingival melanin pigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Pigmented gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Pigmented gums") AnnotationAssertion( "HP:0010284") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation.") @@ -105092,8 +105085,8 @@ AnnotationAssertion( "SNOMEDCT_US:10890000") AnnotationAssertion( "UMLS:C0036093") AnnotationAssertion( "UMLS:C0149772") -AnnotationAssertion(Annotation( ) "Abnormality of the salivary glands") -AnnotationAssertion(Annotation( ) "Salivary gland disease") +AnnotationAssertion(Annotation( ) "Abnormality of the salivary glands") +AnnotationAssertion(Annotation( ) "Salivary gland disease") AnnotationAssertion( "HP:0010286") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal salivary gland morphology") @@ -105138,9 +105131,9 @@ AnnotationAssertion( ) "Cleft anterior maxilla") AnnotationAssertion( "Cleft maxillary alveolus") AnnotationAssertion( "Cleft of alveolar ridge of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft of gum ridge") AnnotationAssertion(Annotation( ) "Notch of alveolar ridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Notch of gum ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Notch of gum ridge") AnnotationAssertion(Annotation( ) "Cleft of alveolar process") AnnotationAssertion(Annotation( ) "Notch of alveolar process") AnnotationAssertion( "HP:0010289") @@ -105220,7 +105213,7 @@ SubClassOf( ) "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T11:39:52Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Hole in roof of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Hole in roof of mouth") AnnotationAssertion(Annotation( ) "Palatal hole") AnnotationAssertion(Annotation( ) "Palatal perforation") AnnotationAssertion( "UMLS:C2032780") @@ -105251,7 +105244,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D000072676") AnnotationAssertion( "SNOMEDCT_US:67787004") AnnotationAssertion( "UMLS:C0152415") -AnnotationAssertion(Annotation( ) "Tongue tied") +AnnotationAssertion(Annotation( ) "Tongue tied") AnnotationAssertion( "Tongue tie") AnnotationAssertion( "HP:0010296") AnnotationAssertion(rdfs:comment "The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue.") @@ -105269,10 +105262,10 @@ AnnotationAssertion( "UMLS:C4255098") AnnotationAssertion(Annotation( ) "Bifurcated tongue") AnnotationAssertion( "Bilobed tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Forked tongue") -AnnotationAssertion(Annotation( ) "Split tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Snake tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Forked tongue") +AnnotationAssertion(Annotation( ) "Split tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Snake tongue") AnnotationAssertion( "HP:0010297") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue.") @@ -105291,8 +105284,8 @@ AnnotationAssertion( "UMLS:C4280382") AnnotationAssertion( "UMLS:C4280383") AnnotationAssertion(Annotation( ) "Smooth lingual surface") -AnnotationAssertion(Annotation( ) Annotation( ) "Smooth surface of tongue") -AnnotationAssertion(Annotation( ) "Smooth tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Smooth surface of tongue") +AnnotationAssertion(Annotation( ) "Smooth tongue") AnnotationAssertion(Annotation( ) "Smooth dorsum of tongue") AnnotationAssertion(Annotation( ) "Atrophy of dorsum of tongue") AnnotationAssertion(Annotation( ) "Atrophy of lingual surface") @@ -105310,8 +105303,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T12:11:14Z") AnnotationAssertion( "UMLS:C4021299") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal dentin") -AnnotationAssertion(Annotation( ) "Abnormality of dentin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal dentin") +AnnotationAssertion(Annotation( ) "Abnormality of dentin") AnnotationAssertion(Annotation( ) "Abnormality of dentine") AnnotationAssertion( "Dentin anomaly") AnnotationAssertion( "HP:0010299") @@ -105363,12 +105356,12 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126962006") AnnotationAssertion( "UMLS:C0037930") -AnnotationAssertion(Annotation( ) "Spinal cord tumor") +AnnotationAssertion(Annotation( ) "Spinal cord tumor") AnnotationAssertion(Annotation( ) "Spinal cord tumour") -AnnotationAssertion(Annotation( ) "Tumor of the spinal cord") +AnnotationAssertion(Annotation( ) "Tumor of the spinal cord") AnnotationAssertion(Annotation( ) "Tumour of the spinal cord") -AnnotationAssertion(Annotation( ) "Spinal tumor") -AnnotationAssertion(Annotation( ) Annotation( ) "Spinal tumors") +AnnotationAssertion(Annotation( ) "Spinal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Spinal tumors") AnnotationAssertion(Annotation( ) "Spinal tumour") AnnotationAssertion(Annotation( ) "Spinal tumours") AnnotationAssertion( "HP:0010302") @@ -105423,7 +105416,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-12T02:13:42Z") AnnotationAssertion( "SNOMEDCT_US:249670005") AnnotationAssertion( "UMLS:C0426789") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Shorter than typical length between neck and abdomen") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Shorter than typical length between neck and abdomen") AnnotationAssertion( "HP:0010306") AnnotationAssertion(rdfs:label "Short thorax") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105434,7 +105427,7 @@ SubClassOf( ) Annotation( "PMID:26229557") "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T02:16:48Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Noisy breathing") +AnnotationAssertion(Annotation( ) Annotation( ) "Noisy breathing") AnnotationAssertion( "MSH:D012135") AnnotationAssertion( "SNOMEDCT_US:248573009") AnnotationAssertion( "SNOMEDCT_US:70407001") @@ -105491,8 +105484,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T02:31:49Z") AnnotationAssertion( "UMLS:C4023911") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small breasts") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped breasts") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small breasts") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped breasts") AnnotationAssertion( "HP:0010311") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the breasts") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105542,7 +105535,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-12T02:36:24Z") AnnotationAssertion( "SNOMEDCT_US:102889008") AnnotationAssertion( "UMLS:C0425772") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature breast development") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature breast development") AnnotationAssertion( "HP:0010314") AnnotationAssertion(rdfs:label "Premature thelarche") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105554,8 +105547,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T02:41:58Z") AnnotationAssertion( "UMLS:C4023910") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small diaprhagm") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped diaprhagm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small diaprhagm") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped diaprhagm") AnnotationAssertion( "HP:0010315") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the diaphragm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105587,7 +105580,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-14T11:40:24Z") AnnotationAssertion( "UMLS:C4021298") AnnotationAssertion( "Absent scapula") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent shoulder blade") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent shoulder blade") AnnotationAssertion( "HP:0010317") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Scapular aplasia") @@ -105600,8 +105593,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-14T11:51:46Z") AnnotationAssertion( "UMLS:C4023909") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small abdominal wall muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped abdominal wall muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small abdominal wall muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped abdominal wall muscles") AnnotationAssertion( "HP:0010318") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the abdominal wall musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105627,7 +105620,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:37:12Z") AnnotationAssertion( "UMLS:C4023907") AnnotationAssertion( "Abnormal 3rd toe morphology") -AnnotationAssertion(Annotation( ) "Abnormality of the 3rd toe") +AnnotationAssertion(Annotation( ) "Abnormality of the 3rd toe") AnnotationAssertion( "HP:0010320") AnnotationAssertion(rdfs:label "Abnormal third toe morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105640,7 +105633,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:37:12Z") AnnotationAssertion( "UMLS:C4023906") AnnotationAssertion( "Abnormal 4th toe morphology") -AnnotationAssertion(Annotation( ) "Abnormality of the 4th toe") +AnnotationAssertion(Annotation( ) "Abnormality of the 4th toe") AnnotationAssertion( "HP:0010321") AnnotationAssertion(rdfs:label "Abnormal fourth toe morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105654,9 +105647,9 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4023905") AnnotationAssertion( "Abnormal 5th toe morphology") AnnotationAssertion( "Abnormality of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky toe") AnnotationAssertion( "HP:0010322") AnnotationAssertion(rdfs:label "Abnormal fifth toe morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105667,7 +105660,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:40:18Z") AnnotationAssertion( "UMLS:C4023904") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 2nd toe bone") AnnotationAssertion( "HP:0010323") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105680,7 +105673,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:40:18Z") AnnotationAssertion( "UMLS:C4023903") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 2nd toe bone") AnnotationAssertion( "HP:0010324") AnnotationAssertion(rdfs:label "Abnormal morphology of phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105692,8 +105685,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:40:18Z") AnnotationAssertion( "UMLS:C4023902") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 2nd toe") AnnotationAssertion( "HP:0010325") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105705,7 +105698,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:40:18Z") AnnotationAssertion( "UMLS:C4021297") -AnnotationAssertion(Annotation( ) "Displacement of the 2nd toe") +AnnotationAssertion(Annotation( ) "Displacement of the 2nd toe") AnnotationAssertion( "HP:0010326") AnnotationAssertion(rdfs:label "Deviation of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105741,7 +105734,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:40:52Z") AnnotationAssertion( "UMLS:C4023900") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 3rd toe bone") AnnotationAssertion( "HP:0010329") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105753,7 +105746,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:40:52Z") AnnotationAssertion( "UMLS:C4023899") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the bones of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the bones of the 3rd toe") AnnotationAssertion( "HP:0010330") AnnotationAssertion(rdfs:label "Abnormality of the phalanges of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105767,8 +105760,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008100") AnnotationAssertion( "UMLS:C1862698") AnnotationAssertion( "Absent/hypoplastic third toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 3rd toe") AnnotationAssertion( "HP:0010331") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105780,7 +105773,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:40:52Z") AnnotationAssertion( "UMLS:C4021295") -AnnotationAssertion(Annotation( ) "Displacement of the 3rd toe") +AnnotationAssertion(Annotation( ) "Displacement of the 3rd toe") AnnotationAssertion( "HP:0010332") AnnotationAssertion(rdfs:label "Deviation of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105816,7 +105809,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:41:21Z") AnnotationAssertion( "UMLS:C4023897") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the 4th toe bone") AnnotationAssertion( "HP:0010335") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105839,8 +105832,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:41:21Z") AnnotationAssertion( "UMLS:C4023895") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 4th toe") AnnotationAssertion( "HP:0010337") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105888,9 +105881,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:41:49Z") AnnotationAssertion( "UMLS:C4023893") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the pinky toe bone") AnnotationAssertion( "HP:0010341") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105902,9 +105895,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:41:49Z") AnnotationAssertion( "UMLS:C4023892") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the little toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the little toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinkie toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the pinky toe bones") AnnotationAssertion( "HP:0010342") AnnotationAssertion(rdfs:label "Abnormality of the phalanges of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105916,10 +105909,10 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:41:49Z") AnnotationAssertion( "UMLS:C4023891") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie toe") AnnotationAssertion(Annotation( ) "Absent/small pinky toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky toe") AnnotationAssertion( "HP:0010343") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105932,9 +105925,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:41:49Z") AnnotationAssertion( "UMLS:C4021291") AnnotationAssertion( "Displacement of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of the pinky toe") AnnotationAssertion( "HP:0010344") AnnotationAssertion(rdfs:label "Deviation of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105947,7 +105940,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:41:49Z") AnnotationAssertion( "UMLS:C4021290") -AnnotationAssertion(Annotation( ) "Joint contractures of the 5th toe") +AnnotationAssertion(Annotation( ) "Joint contractures of the 5th toe") AnnotationAssertion( "HP:0010345") AnnotationAssertion(rdfs:label "Flexion contracture of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -105959,8 +105952,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023890") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of 2nd toe") AnnotationAssertion( "HP:0010347") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105972,7 +105965,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023889") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the 2nd toe") AnnotationAssertion( "HP:0010348") AnnotationAssertion(rdfs:label "Broad phalanges of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -105985,7 +105978,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4021289") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the 2nd toe") AnnotationAssertion( "Bullet-shaped phalanges of the 2nd toe") AnnotationAssertion( "HP:0010349") AnnotationAssertion(rdfs:label "Bullet-shaped 2nd toe phalanx") @@ -105999,8 +105992,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4021288") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of the 2nd toe") -AnnotationAssertion(Annotation( ) "Curved phalanges of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of the 2nd toe") +AnnotationAssertion(Annotation( ) "Curved phalanges of the 2nd toe") AnnotationAssertion( "HP:0010350") AnnotationAssertion(rdfs:label "Curved 2nd toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106025,7 +106018,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4021287") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 2nd toe bone") AnnotationAssertion( "HP:0010352") AnnotationAssertion(rdfs:label "Patchy sclerosis of 2nd toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106040,7 +106033,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023887") AnnotationAssertion( "2nd toe symphalangism") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of 2nd toe") AnnotationAssertion( "Symphalangism affecting the phalanges of the 2nd toe") AnnotationAssertion( "HP:0010353") AnnotationAssertion(rdfs:label "Second toe symphalangism") @@ -106054,8 +106047,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023886") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of second toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bone of second toe") AnnotationAssertion( "HP:0010354") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106068,7 +106061,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4021286") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the 2nd toe") AnnotationAssertion( "Partial/complete duplication of the phalanges of the 2nd toe") AnnotationAssertion( "HP:0010355") AnnotationAssertion(rdfs:label "Duplication of the phalanges of the 2nd toe") @@ -106081,7 +106074,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023885") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010356") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106093,7 +106086,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023884") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0010357") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106105,7 +106098,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:45:34Z") AnnotationAssertion( "UMLS:C4023883") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0010358") AnnotationAssertion(rdfs:label "Abnormal morphology of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106117,8 +106110,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023882") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of 3rd toe") AnnotationAssertion( "HP:0010359") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106130,7 +106123,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023881") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide bones of 3rd toe") AnnotationAssertion( "HP:0010360") AnnotationAssertion(rdfs:label "Broad phalanges of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106143,7 +106136,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4021285") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of 3rd toe") AnnotationAssertion( "Bullet-shaped phalanges of the 3rd toe") AnnotationAssertion( "HP:0010361") AnnotationAssertion(rdfs:label "Bullet-shaped 3rd toe phalanx") @@ -106157,8 +106150,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4021284") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of 3rd toe") -AnnotationAssertion(Annotation( ) "Curved phalanges of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of 3rd toe") +AnnotationAssertion(Annotation( ) "Curved phalanges of the 3rd toe") AnnotationAssertion( "HP:0010362") AnnotationAssertion(rdfs:label "Curved 3rd toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106183,7 +106176,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4021283") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 3rd toe bone") AnnotationAssertion( "HP:0010364") AnnotationAssertion(rdfs:label "Patchy sclerosis of 3rd toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106196,7 +106189,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023880") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of 3rd toe") AnnotationAssertion( "HP:0010365") AnnotationAssertion(rdfs:label "Symphalangism affecting the phalanges of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106209,7 +106202,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023879") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped 3rd toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped 3rd toe bones") AnnotationAssertion( "HP:0010366") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106222,7 +106215,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4021282") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of 3rd toe bone") AnnotationAssertion( "Duplication of phalanx of the third toe") AnnotationAssertion( "Partial/complete duplication of the phalanges of the 3rd toe") AnnotationAssertion( "HP:0010367") @@ -106236,7 +106229,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023878") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0010368") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106248,7 +106241,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023877") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of 3rd toe") AnnotationAssertion( "HP:0010369") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106261,7 +106254,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:17Z") AnnotationAssertion( "UMLS:C4023876") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of 3rd toe") AnnotationAssertion( "HP:0010370") AnnotationAssertion(rdfs:label "Abnormal morphology of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106273,8 +106266,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023875") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bones of 4th toe") AnnotationAssertion( "HP:0010371") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106286,7 +106279,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023874") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the 4th toe") AnnotationAssertion( "HP:0010372") AnnotationAssertion(rdfs:label "Broad phalanges of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106299,7 +106292,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4021281") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the 4th toe") AnnotationAssertion( "Bullet-shaped phalanges of the 4th toe") AnnotationAssertion( "HP:0010373") AnnotationAssertion(rdfs:label "Bullet-shaped 4th toe phalanx") @@ -106313,7 +106306,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4021280") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved bones of 4th toe") AnnotationAssertion( "Curved phalanges of the 4th toe") AnnotationAssertion( "HP:0010374") AnnotationAssertion(rdfs:label "Curved 4th toe phalanx") @@ -106338,8 +106331,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4021279") -AnnotationAssertion(Annotation( ) "Patchy sclerosis of the phalanges of the 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 4th toe bone") +AnnotationAssertion(Annotation( ) "Patchy sclerosis of the phalanges of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in 4th toe bone") AnnotationAssertion( "HP:0010376") AnnotationAssertion(rdfs:label "Patchy sclerosis of 4th toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106352,7 +106345,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023872") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of 4th toe") AnnotationAssertion( "HP:0010377") AnnotationAssertion(rdfs:label "Symphalangism affecting the phalanges of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106365,7 +106358,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023871") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped bones of 4th toe") AnnotationAssertion( "HP:0010378") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106378,7 +106371,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4021278") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of 4th toe bone") AnnotationAssertion( "Duplication of phalanx of the fourth toe") AnnotationAssertion( "Partial/complete duplication of the phalanges of the 4th toe") AnnotationAssertion( "HP:0010379") @@ -106392,7 +106385,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023870") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost 4th toe bone") AnnotationAssertion( "HP:0010380") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106404,7 +106397,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023869") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of middle 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of middle 4th toe bone") AnnotationAssertion( "HP:0010381") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106415,7 +106408,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:51:46Z") AnnotationAssertion( "UMLS:C4023868") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal innermost 4th toe bone") AnnotationAssertion( "HP:0010382") AnnotationAssertion(rdfs:label "Abnormal morphology of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106427,10 +106420,10 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023867") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small little toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pinkie toe bones") AnnotationAssertion(Annotation( ) "Absent/small pinky toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pinky toe bones") AnnotationAssertion( "HP:0010383") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the phalanges of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106442,9 +106435,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023866") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad bones of the pinky toe") AnnotationAssertion( "HP:0010384") AnnotationAssertion(rdfs:label "Broad phalanges of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106457,9 +106450,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4021277") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped bones of the pinky toe") AnnotationAssertion( "Bullet-shaped phalanges of the 5th toe") AnnotationAssertion( "HP:0010385") AnnotationAssertion(rdfs:label "Bullet-shaped 5th toe phalanx") @@ -106473,7 +106466,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4021276") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved little toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved little toe bones") AnnotationAssertion( "Curved phalanges of the 5th toe") AnnotationAssertion(Annotation( ) "Curved pinkie toe bones") AnnotationAssertion(Annotation( ) "Curved pinky toe bones") @@ -106501,9 +106494,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4021275") AnnotationAssertion( "Patchy sclerosis of the phalanges of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in pinky toe bone") AnnotationAssertion( "HP:0010388") AnnotationAssertion(rdfs:label "Patchy sclerosis of 5th toe phalanx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106516,9 +106509,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023864") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones in the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones in the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones in the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones in the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones in the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones in the pinky toe") AnnotationAssertion( "HP:0010389") AnnotationAssertion(rdfs:label "Symphalangism affecting the phalanges of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106531,9 +106524,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023863") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped pinky toe bone") AnnotationAssertion( "HP:0010390") AnnotationAssertion(rdfs:label "Triangular shaped phalanges of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106546,9 +106539,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4020903") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the bones of the pinky toe") AnnotationAssertion( "Duplication of the phalanges of the fifth toe") AnnotationAssertion( "Partial/complete duplication of the phalanges of the 5th toe") AnnotationAssertion( "HP:0010391") @@ -106562,9 +106555,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023862") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0010392") AnnotationAssertion(rdfs:label "Abnormality of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106575,9 +106568,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023861") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the middle bone of the pinky toe") AnnotationAssertion( "HP:0010393") AnnotationAssertion(rdfs:label "Abnormality of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106589,9 +106582,9 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:52:18Z") AnnotationAssertion( "UMLS:C4023860") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0010394") AnnotationAssertion(rdfs:label "Abnormal morphology of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106604,8 +106597,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023859") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost 2nd toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost 2nd toe bone") AnnotationAssertion( "HP:0010395") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106619,7 +106612,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023858") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of 2nd toe") AnnotationAssertion( "HP:0010396") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106633,7 +106626,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023857") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of 2nd toe") AnnotationAssertion( "HP:0010397") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106647,7 +106640,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023856") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of 2nd toe") AnnotationAssertion( "HP:0010398") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106671,7 +106664,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023854") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0010400") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106685,7 +106678,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023853") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of the 2nd toe") AnnotationAssertion( "HP:0010401") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106697,7 +106690,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4023852") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped innermost 2nd toe bone") AnnotationAssertion( "HP:0010402") AnnotationAssertion(rdfs:label "Triangular shaped proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106710,7 +106703,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T11:58:15Z") AnnotationAssertion( "UMLS:C4021274") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of innermost 2nd toe bone") AnnotationAssertion( "Duplication of the proximal phalanx of the second toe") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 2nd toe") AnnotationAssertion( "HP:0010403") @@ -106724,8 +106717,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023851") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of 2nd toe") AnnotationAssertion( "HP:0010404") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106739,7 +106732,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023850") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of 2nd toe") AnnotationAssertion( "HP:0010405") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106753,7 +106746,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023849") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of 2nd toe") AnnotationAssertion( "HP:0010406") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106766,7 +106759,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023848") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of 2nd toe") AnnotationAssertion( "HP:0010407") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106790,7 +106783,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023846") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the 2nd toe") AnnotationAssertion( "HP:0010409") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106804,7 +106797,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023845") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bone of 2nd toe") AnnotationAssertion( "HP:0010410") AnnotationAssertion(rdfs:label "Symphalangism affecting the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106816,7 +106809,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4023844") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped middle bone of 2nd toe") AnnotationAssertion( "HP:0010411") AnnotationAssertion(rdfs:label "Triangular shaped middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106829,7 +106822,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:43:52Z") AnnotationAssertion( "UMLS:C4021273") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of middle bone of 2nd toe") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 2nd toe") AnnotationAssertion( "HP:0010412") AnnotationAssertion(rdfs:label "Duplication of the middle phalanx of the 2nd toe") @@ -106842,8 +106835,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4023843") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost 2nd toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost 2nd toe bone") AnnotationAssertion( "HP:0010413") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106857,8 +106850,8 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4023842") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010414") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106872,7 +106865,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4023841") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010415") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106909,7 +106902,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4023838") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010418") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106922,7 +106915,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4023837") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010419") AnnotationAssertion(rdfs:label "Symphalangism affecting the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106935,7 +106928,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4023836") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost 2nd toe bone") AnnotationAssertion( "HP:0010420") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -106948,7 +106941,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:44:41Z") AnnotationAssertion( "UMLS:C4021272") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the 2nd toe") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 2nd toe") AnnotationAssertion( "HP:0010421") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 2nd toe") @@ -106963,7 +106956,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:56:56Z") AnnotationAssertion( "UMLS:C4021271") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost 2nd toe bone") AnnotationAssertion( "Complete duplication of the proximal phalanx of the second toe") AnnotationAssertion( "HP:0010422") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 2nd toe") @@ -106977,7 +106970,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:56:56Z") AnnotationAssertion( "UMLS:C4021270") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost 2nd toe bone") AnnotationAssertion( "Partial duplication of the proximal phalanx of the second toe") AnnotationAssertion( "HP:0010423") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 2nd toe") @@ -106990,7 +106983,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:57:27Z") AnnotationAssertion( "UMLS:C4023835") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010424") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107003,7 +106996,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:57:27Z") AnnotationAssertion( "UMLS:C4023834") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010425") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 2nd toe") SubClassOf( ) @@ -107015,7 +107008,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:58:18Z") AnnotationAssertion( "UMLS:C4023833") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0010426") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107028,7 +107021,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T12:58:18Z") AnnotationAssertion( "UMLS:C4023832") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0010427") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 2nd toe") SubClassOf( ) @@ -107040,7 +107033,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T04:07:33Z") AnnotationAssertion( "UMLS:C4023831") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of 2nd toe bone") AnnotationAssertion( "HP:0010428") AnnotationAssertion(rdfs:label "Partial duplication of phalanx of the 2nd toe") SubClassOf( ) @@ -107051,7 +107044,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-16T04:07:33Z") AnnotationAssertion( "UMLS:C4023830") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the 2nd toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the 2nd toe bones") AnnotationAssertion( "HP:0010429") AnnotationAssertion(rdfs:label "Complete duplication of the phalanges of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107063,7 +107056,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T04:27:29Z") AnnotationAssertion( "HP:0100361") AnnotationAssertion( "UMLS:C4023829") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent 2nd toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent 2nd toe bones") AnnotationAssertion( "HP:0010430") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107079,7 +107072,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0100365") AnnotationAssertion( "UMLS:C4021269") AnnotationAssertion( "Hypoplastic/small phalanges of the 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 2nd toe bone") AnnotationAssertion( "Short phalanx of the second toe") AnnotationAssertion( "HP:0010431") AnnotationAssertion(rdfs:label "Short phalanx of the 2nd toe") @@ -107095,7 +107088,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T04:28:07Z") AnnotationAssertion( "UMLS:C4021268") AnnotationAssertion( "Absent distal phalanx of the second toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the 2nd toe") AnnotationAssertion( "Aplasia of the distal phalanx of the 2nd toe") AnnotationAssertion( "HP:0010432") AnnotationAssertion(rdfs:label "Absent distal phalanx of the 2nd toe") @@ -107112,7 +107105,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021267") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 2nd toe") AnnotationAssertion( "Short distal phalanx of the second toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the 2nd toe") AnnotationAssertion( "HP:0010433") AnnotationAssertion(rdfs:label "Short distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107124,7 +107117,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T04:28:48Z") AnnotationAssertion( "UMLS:C4023828") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of 2nd toe") AnnotationAssertion( "HP:0010434") AnnotationAssertion(rdfs:label "Aplasia of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107139,7 +107132,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T04:28:48Z") AnnotationAssertion( "UMLS:C4021266") AnnotationAssertion( "Hypoplastic/small middle phalanx of the 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle 2nd toe bone") AnnotationAssertion( "Short middle phalanx of the second toe") AnnotationAssertion( "HP:0010435") AnnotationAssertion(rdfs:label "Short middle phalanx of the 2nd toe") @@ -107152,7 +107145,7 @@ SubClassOf( ) AnnotationAssertion( "2009-07-16T04:29:25Z") AnnotationAssertion( "UMLS:C4023827") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost 2nd toe bone") AnnotationAssertion( "HP:0010436") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107166,7 +107159,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-07-16T04:29:25Z") AnnotationAssertion( "UMLS:C4021265") AnnotationAssertion( "Hypoplastic/small proximal phalanx of the 2nd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost 2nd toe bone") AnnotationAssertion( "Short proximal phalanx of the second toe") AnnotationAssertion( "HP:0010437") AnnotationAssertion(rdfs:label "Short proximal phalanx of the 2nd toe") @@ -107224,7 +107217,7 @@ AnnotationAssertion( "MSH:D017689") AnnotationAssertion( "SNOMEDCT_US:367506006") AnnotationAssertion( "UMLS:C0152427") -AnnotationAssertion(Annotation( ) Annotation( ) "More than five fingers or toes on hands or feet") +AnnotationAssertion(Annotation( ) Annotation( ) "More than five fingers or toes on hands or feet") AnnotationAssertion( "HP:0010442") AnnotationAssertion(rdfs:label "Polydactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -107236,8 +107229,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-29T04:29:30Z") AnnotationAssertion( "UMLS:C4023824") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched thighbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Split thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Split thighbone") AnnotationAssertion( "HP:0010443") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Bifid femur") @@ -107339,7 +107332,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D004940") AnnotationAssertion( "SNOMEDCT_US:63305008") AnnotationAssertion( "UMLS:C0014866") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the esophagus") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the esophagus") AnnotationAssertion(Annotation( ) "Narrowing of the oesophagus") AnnotationAssertion( "HP:0010450") AnnotationAssertion(rdfs:label "Esophageal stenosis") @@ -107352,8 +107345,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-14T10:48:29Z") AnnotationAssertion( "UMLS:C4023823") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small spleen") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped spleen") AnnotationAssertion( "HP:0010451") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the spleen") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107366,7 +107359,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-14T10:51:09Z") AnnotationAssertion( "SNOMEDCT_US:65146007") AnnotationAssertion( "UMLS:C0266632") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal spleen location") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal spleen location") AnnotationAssertion( "Ectopic spleen") AnnotationAssertion( "HP:0010452") AnnotationAssertion(rdfs:label "Ectopia of the spleen") @@ -107478,8 +107471,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-15T08:33:20Z") AnnotationAssertion( "UMLS:C4023819") -AnnotationAssertion(Annotation( ) "Abnormal male genitals") -AnnotationAssertion(Annotation( ) "Abnormality of the male genitalia") +AnnotationAssertion(Annotation( ) "Abnormal male genitals") +AnnotationAssertion(Annotation( ) "Abnormality of the male genitalia") AnnotationAssertion( "HP:0010461") AnnotationAssertion(rdfs:label "Abnormality of the male genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107491,8 +107484,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-15T08:38:35Z") AnnotationAssertion( "UMLS:C4023818") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ovary") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ovary") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small ovary") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped ovary") AnnotationAssertion( "HP:0010462") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the ovary") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107505,7 +107498,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-15T08:40:06Z") AnnotationAssertion( "SNOMEDCT_US:12017008") AnnotationAssertion( "UMLS:C0266368") -AnnotationAssertion(Annotation( ) "Absent ovary") +AnnotationAssertion(Annotation( ) "Absent ovary") AnnotationAssertion( "Aplasia of the ovaries") AnnotationAssertion(Annotation( ) "Bilateral absent ovaries") AnnotationAssertion( "HP:0010463") @@ -107542,8 +107535,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-15T09:28:46Z") AnnotationAssertion( "UMLS:C4023817") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small testes") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped testes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small testes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped testes") AnnotationAssertion( "HP:0010468") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the testes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107556,7 +107549,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-15T09:29:16Z") AnnotationAssertion( "UMLS:C4023816") AnnotationAssertion(Annotation( ) "Absence of palpable testicules") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent testes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent testes") AnnotationAssertion( "Aplasia of the testes") AnnotationAssertion( "HP:0010469") AnnotationAssertion(rdfs:comment "Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies.") @@ -107570,7 +107563,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-15T09:34:18Z") AnnotationAssertion( "SNOMEDCT_US:17471001") AnnotationAssertion( "UMLS:C0266430") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra testes") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra testes") AnnotationAssertion( "Polyorchidism") AnnotationAssertion( "HP:0010470") AnnotationAssertion(rdfs:label "Supernumerary testes") @@ -107642,8 +107635,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-15T10:09:48Z") AnnotationAssertion( "UMLS:C4023813") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bladder") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bladder") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small bladder") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped bladder") AnnotationAssertion( "HP:0010476") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the bladder") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107655,7 +107648,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-15T10:10:19Z") AnnotationAssertion( "UMLS:C4023812") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bladder") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bladder") AnnotationAssertion( "HP:0010477") AnnotationAssertion(rdfs:label "Aplasia of the bladder") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107738,7 +107731,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-16T09:23:57Z") AnnotationAssertion( "SNOMEDCT_US:298745009") AnnotationAssertion( "UMLS:C0575518") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of upper limb") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of upper limb") AnnotationAssertion( "HP:0010484") AnnotationAssertion(rdfs:label "Hypertrophy of the upper limb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107786,8 +107779,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-16T10:53:24Z") AnnotationAssertion( "UMLS:C4023806") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small palm crease") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped palm crease") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small palm crease") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped palm crease") AnnotationAssertion( "HP:0010488") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the palmar creases") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -107800,7 +107793,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-16T10:54:09Z") AnnotationAssertion( "UMLS:C4021262") AnnotationAssertion( "Absence of the palmar creases") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent palm lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent palm lines") AnnotationAssertion( "Aplasia of the palmar creases") AnnotationAssertion( "HP:0010489") AnnotationAssertion( ) @@ -107815,7 +107808,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-16T10:54:52Z") AnnotationAssertion( "SNOMEDCT_US:205557000") AnnotationAssertion( "UMLS:C0221199") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the palm lines") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the palm lines") AnnotationAssertion( "HP:0010490") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormality of the palmar creases") @@ -107854,7 +107847,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-17T10:25:37Z") AnnotationAssertion( "UMLS:C4021260") -AnnotationAssertion(Annotation( ) Annotation( ) "Elongated long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Elongated long bone of hand") AnnotationAssertion( "Increased length of metacarpals") AnnotationAssertion( "HP:0010493") AnnotationAssertion( ) @@ -107930,7 +107923,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-17T11:46:41Z") AnnotationAssertion( "UMLS:C0857276") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial knee cap dislocation") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial knee cap dislocation") AnnotationAssertion( "Subluxation of patella") AnnotationAssertion( "HP:0010499") AnnotationAssertion(rdfs:label "Patellar subluxation") @@ -107955,8 +107948,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0005030") AnnotationAssertion( "HP:0005192") AnnotationAssertion( "UMLS:C4021259") -AnnotationAssertion(Annotation( ) "Limitation of knee mobility") -AnnotationAssertion(Annotation( ) "Limited knee movement") +AnnotationAssertion(Annotation( ) "Limitation of knee mobility") +AnnotationAssertion(Annotation( ) "Limited knee movement") AnnotationAssertion( "HP:0010501") AnnotationAssertion(rdfs:comment "The knee permits four types of movement: (i) Extension (straightening the lower leg); (ii) Flexion (bending the knee); (iii) Lateral rotation (turning outwards); and (iv) Medial rotation (turning inward)") AnnotationAssertion(rdfs:label "Limitation of knee mobility") @@ -107969,7 +107962,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-19T09:45:18Z") AnnotationAssertion( "UMLS:C4023801") -AnnotationAssertion(Annotation( ) Annotation( ) "Bowed calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bowed calf bone") AnnotationAssertion( "HP:0010502") AnnotationAssertion(rdfs:comment "A developmental defect with posteromedial fibular angulation.") AnnotationAssertion(rdfs:label "Fibular bowing") @@ -107983,7 +107976,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-19T09:45:58Z") AnnotationAssertion( "UMLS:C3276742") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplicated calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplicated calf bone") AnnotationAssertion( "HP:0010503") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Fibular duplication") @@ -107996,8 +107989,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-19T09:46:37Z") AnnotationAssertion( "UMLS:C4021864") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of shinbone") AnnotationAssertion( "HP:0010504") AnnotationAssertion(rdfs:label "Increased length of the tibia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108021,7 +108014,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-19T09:47:44Z") AnnotationAssertion( "UMLS:C4021258") AnnotationAssertion( "Abnormal dermatoglyphics on feet") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal prints on feet") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal prints on feet") AnnotationAssertion( "HP:0010506") AnnotationAssertion(rdfs:label "Abnormal plantar dermatoglyphics") SubClassOf( ) @@ -108055,7 +108048,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-19T10:05:13Z") AnnotationAssertion( "UMLS:C4021257") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent ankle bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent ankle bone") AnnotationAssertion( "Absent tarsals") AnnotationAssertion( "HP:0010509") AnnotationAssertion(rdfs:label "Aplasia of the tarsal bones") @@ -108079,9 +108072,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-19T10:40:43Z") AnnotationAssertion( "UMLS:C3150613") -AnnotationAssertion(Annotation( ) "Increased length of toes") -AnnotationAssertion(Annotation( ) "Long toe") -AnnotationAssertion(Annotation( ) "Long toes") +AnnotationAssertion(Annotation( ) "Increased length of toes") +AnnotationAssertion(Annotation( ) "Long toe") +AnnotationAssertion(Annotation( ) "Long toes") AnnotationAssertion( "HP:0010511") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified.") @@ -108135,8 +108128,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-19T04:21:24Z") AnnotationAssertion( "UMLS:C3278004") AnnotationAssertion( "UMLS:C4023796") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thymus") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thymus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small thymus") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped thymus") AnnotationAssertion(Annotation( ) "Thymic hypoplasia or aplasia") AnnotationAssertion( "HP:0010515") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the thymus") @@ -108150,7 +108143,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-19T04:23:10Z") AnnotationAssertion( "MSH:D013952") AnnotationAssertion( "UMLS:C0040115") -AnnotationAssertion(Annotation( ) "Enlarged thymus") +AnnotationAssertion(Annotation( ) "Enlarged thymus") AnnotationAssertion( "Thymic hyperplasia") AnnotationAssertion( "HP:0010516") AnnotationAssertion(rdfs:label "Thymus hyperplasia") @@ -108163,7 +108156,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-19T04:30:35Z") AnnotationAssertion( "UMLS:C4023795") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thymus position") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thymus position") AnnotationAssertion( "HP:0010517") AnnotationAssertion(rdfs:label "Ectopic thymus tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -108221,7 +108214,7 @@ AnnotationAssertion( "SNOMEDCT_US:59770006") AnnotationAssertion( "SNOMEDCT_US:9236007") AnnotationAssertion( "UMLS:C0476254") -AnnotationAssertion(Annotation( ) "Reading disability") +AnnotationAssertion(Annotation( ) "Reading disability") AnnotationAssertion( "HP:0010522") AnnotationAssertion(rdfs:label "Dyslexia") SubClassOf( ) @@ -108234,8 +108227,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D004410") AnnotationAssertion( "SNOMEDCT_US:9236007") AnnotationAssertion( "UMLS:C0002018") -AnnotationAssertion(Annotation( ) "Text blindness") -AnnotationAssertion(Annotation( ) "Word blindness") +AnnotationAssertion(Annotation( ) "Text blindness") +AnnotationAssertion(Annotation( ) "Word blindness") AnnotationAssertion( "HP:0010523") AnnotationAssertion(rdfs:comment "Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed.") AnnotationAssertion(rdfs:label "Alexia") @@ -108300,7 +108293,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D020238") AnnotationAssertion( "SNOMEDCT_US:18358003") AnnotationAssertion( "UMLS:C0234512") -AnnotationAssertion(Annotation( ) "Face blindness") +AnnotationAssertion(Annotation( ) "Face blindness") AnnotationAssertion( "Facial agnosia") AnnotationAssertion( "HP:0010528") AnnotationAssertion(rdfs:label "Prosopagnosia") @@ -108319,7 +108312,7 @@ AnnotationAssertion( "SNOMEDCT_US:64712007") AnnotationAssertion( "UMLS:C0013528") AnnotationAssertion( "UMLS:C4280380") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Echoing another person's speech") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Echoing another person's speech") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Echologia") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Echophrasia") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Repeated speech") @@ -108397,7 +108390,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D012891") AnnotationAssertion( "SNOMEDCT_US:73430006") AnnotationAssertion( "UMLS:C0037315") -AnnotationAssertion(Annotation( ) Annotation( ) "Pauses in breathing while sleeping") +AnnotationAssertion(Annotation( ) Annotation( ) "Pauses in breathing while sleeping") AnnotationAssertion( "Sleep apnoea") AnnotationAssertion( "HP:0010535") AnnotationAssertion(rdfs:label "Sleep apnea") @@ -108424,8 +108417,8 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:268855009") AnnotationAssertion( "UMLS:C0410935") AnnotationAssertion(Annotation( ) "Broad cranial sutures") -AnnotationAssertion(Annotation( ) Annotation( ) "Large cranial suture") -AnnotationAssertion(Annotation( ) Annotation( ) "Persistent open cranial sutures") +AnnotationAssertion(Annotation( ) Annotation( ) "Large cranial suture") +AnnotationAssertion(Annotation( ) Annotation( ) "Persistent open cranial sutures") AnnotationAssertion( "Widened cranial sutures") AnnotationAssertion( "open cranial sutures") AnnotationAssertion( "HP:0010537") @@ -108445,8 +108438,8 @@ AnnotationAssertion( ) "Hypoplasia of sella turcica") AnnotationAssertion(Annotation( ) "Hypoplasia of hypophseal fossa") AnnotationAssertion(Annotation( ) "Hypoplasia of pituitary fossa") -AnnotationAssertion(Annotation( ) Annotation( ) "Small hypophyseal fossa") -AnnotationAssertion(Annotation( ) Annotation( ) "Small pituitary fossa") +AnnotationAssertion(Annotation( ) Annotation( ) "Small hypophyseal fossa") +AnnotationAssertion(Annotation( ) Annotation( ) "Small pituitary fossa") AnnotationAssertion( "HP:0010538") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Small sella turcica") @@ -108458,10 +108451,10 @@ SubClassOf( ) "The presence of an abnormally thin calvarium.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-21T10:21:29Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin skull bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin skull bone") AnnotationAssertion( "UMLS:C1856231") AnnotationAssertion( "UMLS:C4280379") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin cranial bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin cranial bone") AnnotationAssertion( "HP:0010539") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Thin calvarium") @@ -108483,17 +108476,17 @@ SubClassOf( ) "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-23T10:15:33Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Scalp folds") -AnnotationAssertion(Annotation( ) Annotation( ) "Scalp furrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Scalp folds") +AnnotationAssertion(Annotation( ) Annotation( ) "Scalp furrows") AnnotationAssertion( "SNOMEDCT_US:51603000") AnnotationAssertion( "UMLS:C0263417") AnnotationAssertion( "UMLS:C4072877") AnnotationAssertion( "UMLS:C4280378") AnnotationAssertion( "Cutis verticis gyrata") -AnnotationAssertion(Annotation( ) Annotation( ) "Furrows in thickened skin on top of scalp") +AnnotationAssertion(Annotation( ) Annotation( ) "Furrows in thickened skin on top of scalp") AnnotationAssertion( "Scalp rugae") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickened folds on top of scalp") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of the scalp") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickened folds on top of scalp") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of the scalp") AnnotationAssertion( "HP:0010541") AnnotationAssertion(rdfs:label "Cutis gyrata of scalp") SubClassOf( ) @@ -108557,7 +108550,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:41405005") AnnotationAssertion( "UMLS:C0231531") AnnotationAssertion( "EMG: fibrillations on electromyogram") -AnnotationAssertion(Annotation( ) "Twitching") +AnnotationAssertion(Annotation( ) "Twitching") AnnotationAssertion( "HP:0010546") AnnotationAssertion(rdfs:label "Muscle fibrillation") SubClassOf( ) @@ -108607,7 +108600,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D010264") AnnotationAssertion( "SNOMEDCT_US:60389000") AnnotationAssertion( "UMLS:C0030486") -AnnotationAssertion(Annotation( ) Annotation( ) "Leg paralysis") +AnnotationAssertion(Annotation( ) Annotation( ) "Leg paralysis") AnnotationAssertion( "HP:0010550") AnnotationAssertion(rdfs:label "Paraplegia") SubClassOf( ) @@ -108645,8 +108638,8 @@ AnnotationAssertion( "UMLS:C4021254") AnnotationAssertion( "Cutaneous syndactyly of fingers") AnnotationAssertion( "Cutaneous syndactyly of hands") -AnnotationAssertion(Annotation( "PMID:16200145") Annotation( ) "Webbed fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed skin of fingers") +AnnotationAssertion(Annotation( "PMID:16200145") Annotation( ) "Webbed fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed skin of fingers") AnnotationAssertion( "HP:0010554") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of \"complete\" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term \"syndactyly\" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly.") @@ -108697,7 +108690,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-10-14T09:52:46Z") AnnotationAssertion( "UMLS:C4021253") AnnotationAssertion( "Wavy clavicles") -AnnotationAssertion(Annotation( ) Annotation( ) "Wavy collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wavy collarbone") AnnotationAssertion( "HP:0010560") AnnotationAssertion(rdfs:label "Undulate clavicles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108709,7 +108702,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-10-14T09:56:07Z") AnnotationAssertion( "UMLS:C1969185") -AnnotationAssertion(Annotation( ) "Wavy ribs") +AnnotationAssertion(Annotation( ) "Wavy ribs") AnnotationAssertion( "HP:0010561") AnnotationAssertion(rdfs:label "Undulate ribs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108808,7 +108801,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-10-20T07:01:24Z") AnnotationAssertion( "UMLS:C4023787") -AnnotationAssertion(Annotation( ) "Low maternal serum alpha-fetoprotein") +AnnotationAssertion(Annotation( ) "Low maternal serum alpha-fetoprotein") AnnotationAssertion( "HP:0010570") AnnotationAssertion(rdfs:comment "Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.") AnnotationAssertion(rdfs:label "Low maternal circulating alpha-fetoprotein concentration") @@ -108821,7 +108814,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-10-20T07:19:29Z") AnnotationAssertion( "UMLS:C4023786") AnnotationAssertion( "Elevated level of phytanic acid") -AnnotationAssertion(Annotation( ) "Elevated levels of phytanic acid") +AnnotationAssertion(Annotation( ) "Elevated levels of phytanic acid") AnnotationAssertion( "HP:0010571") AnnotationAssertion(rdfs:comment "Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things.") AnnotationAssertion(rdfs:label "Elevated circulating phytanic acid concentration") @@ -108835,7 +108828,7 @@ AnnotationAssertion(dc:creator "sand AnnotationAssertion( "2009-10-21T01:28:23Z") AnnotationAssertion( "HP:0010589") AnnotationAssertion( "UMLS:C4021252") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost thighbone") AnnotationAssertion( "Abnormality of the proximal femoral epiphysis") AnnotationAssertion( "HP:0010574") AnnotationAssertion(rdfs:comment "Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head.") @@ -108849,7 +108842,7 @@ SubClassOf( ) "The presence of developmental dysplasia of the femoral head.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-21T01:30:40Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of femoral head development") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of femoral head development") AnnotationAssertion( "UMLS:C4021251") AnnotationAssertion( "UMLS:C4280377") AnnotationAssertion( "Dysplastic femoral head") @@ -108875,7 +108868,7 @@ SubClassOf( "sandra1") AnnotationAssertion( "2009-10-22T02:53:19Z") AnnotationAssertion( "UMLS:C4021862") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of bone") AnnotationAssertion( "HP:0010577") AnnotationAssertion(rdfs:label "Absent epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108886,7 +108879,7 @@ SubClassOf( "sandra1") AnnotationAssertion( "2009-10-22T02:53:19Z") AnnotationAssertion( "UMLS:C4023785") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of long bone") AnnotationAssertion( "HP:0010578") AnnotationAssertion(rdfs:label "Bracket epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108900,7 +108893,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0000937") AnnotationAssertion( "HP:0006078") AnnotationAssertion( "UMLS:C1865037") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of bone") AnnotationAssertion( "Cone-shaped epiphyses") AnnotationAssertion( "Coned epiphyses") AnnotationAssertion( "HP:0010579") @@ -108917,7 +108910,7 @@ AnnotationAssertion( "HP:0003055") AnnotationAssertion( "HP:0005082") AnnotationAssertion( "UMLS:C1833328") -AnnotationAssertion(Annotation( ) Annotation( ) "Large end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Large end part of bone") AnnotationAssertion( "Large epiphyses") AnnotationAssertion( "Widened, distorted epiphyses") AnnotationAssertion( "HP:0010580") @@ -108937,7 +108930,7 @@ AnnotationAssertion( "HP:0005749") AnnotationAssertion( "HP:0010581") AnnotationAssertion( "UMLS:C1846449") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of long bone") AnnotationAssertion( "HP:0010582") AnnotationAssertion(rdfs:label "Irregular epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108950,7 +108943,7 @@ AnnotationAssertion(dc:creator "sand AnnotationAssertion( "2009-10-22T02:53:19Z") AnnotationAssertion( "UMLS:C1856911") AnnotationAssertion( "Epiphyseal sclerosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in end part of bone") AnnotationAssertion( "HP:0010583") AnnotationAssertion(rdfs:label "Ivory epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108972,7 +108965,7 @@ AnnotationAssertion(dc:creator "sand AnnotationAssertion( "2009-10-22T02:53:19Z") AnnotationAssertion( "HP:0005730") AnnotationAssertion( "UMLS:C1846803") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of bone") AnnotationAssertion( "HP:0010585") AnnotationAssertion(rdfs:label "Small epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -108983,7 +108976,7 @@ SubClassOf( "sandra1") AnnotationAssertion( "2009-10-22T02:53:19Z") AnnotationAssertion( "UMLS:C4023784") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of bone") AnnotationAssertion( "HP:0010587") AnnotationAssertion(rdfs:label "Triangular epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109008,7 +109001,7 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2009-10-22T03:00:23Z") AnnotationAssertion( "UMLS:C4023783") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost thighbone") AnnotationAssertion( "HP:0010590") AnnotationAssertion(rdfs:label "Abnormality of the distal femoral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109020,8 +109013,8 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2009-10-22T03:03:04Z") AnnotationAssertion( "UMLS:C4023782") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of innermost shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of innermost shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of innermost shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of innermost shinbone") AnnotationAssertion( "HP:0010591") AnnotationAssertion(rdfs:label "Abnormality of the proximal tibial epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109032,8 +109025,8 @@ SubClassOf( "sandra1") AnnotationAssertion( "2009-10-22T03:03:04Z") AnnotationAssertion( "UMLS:C4023781") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of outermost shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of outermost shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of outermost shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of outermost shinbone") AnnotationAssertion( "HP:0010592") AnnotationAssertion(rdfs:label "Abnormality of the distal tibial epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109045,7 +109038,7 @@ AnnotationAssertion(dc:creator "sand AnnotationAssertion( "2009-10-22T03:03:34Z") AnnotationAssertion( "UMLS:C4023780") AnnotationAssertion( "Abnormality of fibular epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the calf bone") AnnotationAssertion( "HP:0010593") AnnotationAssertion(rdfs:label "Abnormal fibular epiphysis morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109057,7 +109050,7 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2009-10-22T03:04:39Z") AnnotationAssertion( "UMLS:C4023779") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost end part of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the innermost end part of calf bone") AnnotationAssertion( "HP:0010594") AnnotationAssertion(rdfs:label "Abnormality of the proximal fibular epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109069,7 +109062,7 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2009-10-22T03:04:39Z") AnnotationAssertion( "UMLS:C4023778") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost end part of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the outermost end part of calf bone") AnnotationAssertion( "HP:0010595") AnnotationAssertion(rdfs:label "Abnormality of the distal fibular epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109104,7 +109097,7 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2009-10-22T06:40:29Z") AnnotationAssertion( "UMLS:C4023775") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost long bone in upper arm") AnnotationAssertion( "HP:0010598") AnnotationAssertion(rdfs:label "Abnormality of the proximal humeral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109116,7 +109109,7 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2009-10-22T06:40:29Z") AnnotationAssertion( "UMLS:C4023774") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost long bone in upper arm") AnnotationAssertion( "HP:0010599") AnnotationAssertion(rdfs:label "Abnormality of the distal humeral epiphysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109179,16 +109172,16 @@ SubClassOf( "sandra1") AnnotationAssertion( "2009-10-27T10:57:50Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Lesion of the eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Lesion of the eyelid") AnnotationAssertion( "SNOMEDCT_US:248514008") AnnotationAssertion( "SNOMEDCT_US:301913002") AnnotationAssertion( "SNOMEDCT_US:46210008") AnnotationAssertion( "UMLS:C0155218") AnnotationAssertion( "UMLS:C0424844") AnnotationAssertion( "UMLS:C0578590") -AnnotationAssertion(Annotation( ) "Cyst of the eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid bump") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid mass") +AnnotationAssertion(Annotation( ) "Cyst of the eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid bump") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid mass") AnnotationAssertion( "HP:0010604") AnnotationAssertion(rdfs:label "Cyst of the eyelid") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -109218,8 +109211,8 @@ AnnotationAssertion( "SNOMEDCT_US:397513003") AnnotationAssertion( "UMLS:C0019917") AnnotationAssertion( "UMLS:C4280376") -AnnotationAssertion(Annotation( ) Annotation( ) "Stye of eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Red bump on eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Stye of eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Red bump on eyelid") AnnotationAssertion( "HP:0010606") AnnotationAssertion(rdfs:label "Hordeolum") SubClassOf( ) @@ -109243,8 +109236,8 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:414521009") AnnotationAssertion( "UMLS:C0085690") AnnotationAssertion( "UMLS:C4280375") -AnnotationAssertion(Annotation( ) Annotation( ) "Stye of inner eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Red bump on inner eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Stye of inner eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Red bump on inner eyelid") AnnotationAssertion( "HP:0010608") AnnotationAssertion(rdfs:label "Hordeolum internum") SubClassOf( ) @@ -109402,7 +109395,7 @@ AnnotationAssertion( "HP:0010555") AnnotationAssertion( "UMLS:C1834737") AnnotationAssertion( "Cutaneous syndactyly of feet") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed skin of toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed skin of toes") AnnotationAssertion( "soft tissue syndactyly of toes") AnnotationAssertion( "HP:0010621") AnnotationAssertion( ) @@ -109420,7 +109413,7 @@ AnnotationAssertion( "SNOMEDCT_US:442868003") AnnotationAssertion( "UMLS:C2732838") AnnotationAssertion( "UMLS:C4020771") -AnnotationAssertion(Annotation( ) Annotation( ) "Skeletal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Skeletal tumor") AnnotationAssertion(Annotation( ) "Skeletal tumour") AnnotationAssertion( "Neoplasia of the skeletal system") AnnotationAssertion( "Bone neoplasm") @@ -109437,8 +109430,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008381") AnnotationAssertion( "HP:0008389") AnnotationAssertion( "UMLS:C1856749") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small toenails") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped toenails") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small toenails") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped toenails") AnnotationAssertion( "Aplastic/hypoplastic toenails") AnnotationAssertion( "Hypoplastic-absent toenails") AnnotationAssertion( "HP:0010624") @@ -109468,7 +109461,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-12-05T03:04:20Z") AnnotationAssertion( "UMLS:C4021249") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pituitary gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pituitary gland") AnnotationAssertion( "Aplasia of the pituitary gland") AnnotationAssertion( "HP:0010626") AnnotationAssertion(rdfs:label "Anterior pituitary agenesis") @@ -109484,7 +109477,7 @@ AnnotationAssertion( "UMLS:C0948740") AnnotationAssertion( "UMLS:C1859775") AnnotationAssertion( "Small anterior pituitary lobe") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pituitary gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pituitary gland") AnnotationAssertion( "Hypoplasia of the pituitary gland") AnnotationAssertion( "HP:0010627") AnnotationAssertion(rdfs:label "Anterior pituitary hypoplasia") @@ -109513,7 +109506,7 @@ AnnotationAssertion( "UMLS:C0376175") AnnotationAssertion( "UMLS:C0427055") AnnotationAssertion( "UMLS:C1858719") -AnnotationAssertion(Annotation( ) "Bell's palsy") +AnnotationAssertion(Annotation( ) "Bell's palsy") AnnotationAssertion( "Cranial nerve VII palsy") AnnotationAssertion( "Facial nerve palsy") AnnotationAssertion( "Facial nerve paralysis") @@ -109549,7 +109542,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-12-06T05:58:36Z") AnnotationAssertion( "UMLS:C4021248") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of end part of long bone of foot") AnnotationAssertion( "Abnormality of metatarsal epiphysis") AnnotationAssertion( "Abnormality of the epiphyses of the metatarsals") AnnotationAssertion( "HP:0010630") @@ -109564,7 +109557,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-12-06T06:00:04Z") AnnotationAssertion( "UMLS:C4023769") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the foot bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the foot bone") AnnotationAssertion( "HP:0010631") AnnotationAssertion(rdfs:label "Abnormality of the epiphyses of the feet") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -109657,8 +109650,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008266") AnnotationAssertion( "UMLS:C1833667") AnnotationAssertion(Annotation( ) "Elevated ALP of bone origin") -AnnotationAssertion(Annotation( ) "Elevated alkaline phosphatase of bone origin") -AnnotationAssertion(Annotation( ) "Increased serum bone-specific alkaline phosphatase") +AnnotationAssertion(Annotation( ) "Elevated alkaline phosphatase of bone origin") +AnnotationAssertion(Annotation( ) "Increased serum bone-specific alkaline phosphatase") AnnotationAssertion( "HP:0010639") AnnotationAssertion(rdfs:comment "Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme.") AnnotationAssertion(rdfs:label "Elevated alkaline phosphatase of bone origin") @@ -109716,7 +109709,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-02-17T02:41:47Z") AnnotationAssertion( "UMLS:C4023761") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the toes") AnnotationAssertion( "HP:0010645") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -109782,18 +109775,18 @@ AnnotationAssertion( ) "Decreased size of premaxilla") AnnotationAssertion(Annotation( ) "Decreased size of the primary palate bone") AnnotationAssertion(Annotation( ) "Hypoplasia of the intermaxillary bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Hypoplasia of the primary palate bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary bone deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Hypoplasia of the primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary bone deficiency") AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary underdevelopment") -AnnotationAssertion(Annotation( ) Annotation( ) "Primary palate bone deficiency") -AnnotationAssertion(Annotation( ) Annotation( ) "Small premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Small primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Primary palate bone deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Small premaxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Small primary palate bone") AnnotationAssertion(Annotation( ) "Underdevelopment of premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the premaxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of the primary palate bone") AnnotationAssertion(Annotation( ) "Premaxillary bone retrusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary retrusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Primary palate bone retrusion") +AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary retrusion") +AnnotationAssertion(Annotation( ) Annotation( ) "Primary palate bone retrusion") AnnotationAssertion( "HP:0010650") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hypoplasia of the premaxilla") @@ -109860,7 +109853,7 @@ AnnotationAssertion( "SNOMEDCT_US:360507004") AnnotationAssertion( "UMLS:C1859126") AnnotationAssertion( "Epiphyseal punctate calcifications") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of bone") AnnotationAssertion( "Stippled epiphyses") AnnotationAssertion( "Stippling of the epiphyses") AnnotationAssertion( "HP:0010655") @@ -109878,7 +109871,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-02-25T09:43:04Z") AnnotationAssertion( "UMLS:C4021246") AnnotationAssertion( "Abnormality of the mineralisation or ossification of the epiphyses") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the end part of a bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the end part of a bone") AnnotationAssertion( "HP:0010656") AnnotationAssertion(rdfs:label "Abnormal epiphyseal ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -109912,7 +109905,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-02-25T10:49:23Z") AnnotationAssertion( "UMLS:C4021245") -AnnotationAssertion(Annotation( ) "Patchy increased and decreased bone mineral density") +AnnotationAssertion(Annotation( ) "Patchy increased and decreased bone mineral density") AnnotationAssertion( "HP:0010659") AnnotationAssertion(rdfs:label "Patchy variation in bone mineral density") SubClassOf( ) @@ -109927,7 +109920,7 @@ AnnotationAssertion( "UMLS:C4021244") AnnotationAssertion( "Abnormal ossification of hand bones") AnnotationAssertion( "Abnormality of the mineralisation and ossification of bones of the hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the hand bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of the hand bones") AnnotationAssertion( "HP:0010660") AnnotationAssertion(rdfs:label "Abnormal hand bone ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -110021,15 +110014,15 @@ SubClassOf( ) "A congenital defect characterized by absence of the Maxilla.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-02-26T08:11:45Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of upper jaw bones") AnnotationAssertion( "UMLS:C4023750") AnnotationAssertion( "UMLS:C4280371") AnnotationAssertion(Annotation( ) "Absence of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper jaw bones") AnnotationAssertion(Annotation( ) "Agenesis of the maxilla") AnnotationAssertion(Annotation( ) "Aplasia of the upper jaw bones") AnnotationAssertion(Annotation( ) "Failure of development of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper jaw bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper jaw bones") AnnotationAssertion( "HP:0010667") AnnotationAssertion(rdfs:label "Aplasia of the maxilla") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110044,10 +110037,10 @@ AnnotationAssertion( AnnotationAssertion( "HP:0012369") AnnotationAssertion( "UMLS:C4023749") AnnotationAssertion( "Abnormal malar bone morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the cheekbone") AnnotationAssertion( "Abnormality of the zygomatic bone") AnnotationAssertion(Annotation( ) "Anomaly of the zygomatic bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the cheekbone") AnnotationAssertion(Annotation( ) "Deformity of the zygomatic bone") AnnotationAssertion(Annotation( ) "Malformation of the zygomatic bone") AnnotationAssertion( "HP:0010668") @@ -110061,22 +110054,22 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:19125436") "Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-02-26T08:14:04Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Depressed cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Depressed cheekbone") AnnotationAssertion(Annotation( ) "Depressed zygomatic bone") AnnotationAssertion(Annotation( ) "Flattening of the zygomatic bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small cheekbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small malar bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small zygomatic bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small malar bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small zygomatic bone") AnnotationAssertion( "UMLS:C4021242") AnnotationAssertion( "UMLS:C4072879") AnnotationAssertion( "UMLS:C4280368") AnnotationAssertion( "UMLS:C4280369") AnnotationAssertion( "UMLS:C4280370") -AnnotationAssertion(Annotation( ) Annotation( ) "Cheekbone underdevelopment") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cheekbone underdevelopment") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of cheekbone") AnnotationAssertion(Annotation( ) "Decreased size of zygomatic bone") AnnotationAssertion(Annotation( ) "Hypoplasia of cheekbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of cheekbone") AnnotationAssertion(Annotation( ) "Underdevelopment of zygomatic bone") AnnotationAssertion(Annotation( ) "Hypotrophic cheekbone") AnnotationAssertion(Annotation( ) "Hypotrophic zygomatic bone") @@ -110094,7 +110087,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-02-26T08:22:51Z") AnnotationAssertion( "UMLS:C4023748") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 3rd long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 3rd long bone of foot") AnnotationAssertion( "HP:0010672") AnnotationAssertion(rdfs:label "Abnormality of the third metatarsal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110106,8 +110099,8 @@ AnnotationAssertion(Annotation( "sandra1") AnnotationAssertion( "2010-02-27T06:28:19Z") AnnotationAssertion( "UMLS:C4023747") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curve of the backbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curve of the spine") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curve of the backbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curve of the spine") AnnotationAssertion( "Abnormal curving of the spine") AnnotationAssertion( "Abnormality of the curvature of the vertebral column") AnnotationAssertion( "Curvature of spine") @@ -110315,7 +110308,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-05T05:05:05Z") AnnotationAssertion( "UMLS:C4021239") -AnnotationAssertion(Annotation( ) "Mirror image dupliction of fingers") +AnnotationAssertion(Annotation( ) "Mirror image dupliction of fingers") AnnotationAssertion( "HP:0010690") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Mirror image hand polydactyly") @@ -110328,7 +110321,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-05T05:05:05Z") AnnotationAssertion( "UMLS:C4021238") -AnnotationAssertion(Annotation( ) "Mirror image dupliction of toes") +AnnotationAssertion(Annotation( ) "Mirror image dupliction of toes") AnnotationAssertion( "HP:0010691") AnnotationAssertion(rdfs:label "Mirror image foot polydactyly") SubClassOf( ) @@ -110340,10 +110333,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-05T06:41:50Z") AnnotationAssertion( "UMLS:C4023736") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-5th fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index, middle and little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index, middle and pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index, middle and pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-5th fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index, middle and little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index, middle and pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index, middle and pinky finger") AnnotationAssertion( "HP:0010692") AnnotationAssertion(rdfs:label "2-5 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110356,7 +110349,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-03-11T02:49:53Z") AnnotationAssertion( "MSH:C563426") AnnotationAssertion( "UMLS:C1833118") -AnnotationAssertion(Annotation( ) "Pulverulent cataract") +AnnotationAssertion(Annotation( ) "Pulverulent cataract") AnnotationAssertion( "HP:0010693") AnnotationAssertion(rdfs:comment "The word \"pulverulent \" means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color.") AnnotationAssertion(rdfs:label "Pulverulent cataract") @@ -110493,8 +110486,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:07:14Z") AnnotationAssertion( "UMLS:C4023732") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-2nd finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed thumb and index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-2nd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed thumb and index finger") AnnotationAssertion( "HP:0010704") AnnotationAssertion(rdfs:label "1-2 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110506,7 +110499,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:12:44Z") AnnotationAssertion( "UMLS:C4023731") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 4th-5th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 4th-5th finger") AnnotationAssertion( "HP:0010705") AnnotationAssertion(rdfs:label "4-5 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110518,7 +110511,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:12:44Z") AnnotationAssertion( "UMLS:C4023730") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-3rd finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-3rd finger") AnnotationAssertion( "HP:0010706") AnnotationAssertion(rdfs:label "1-3 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110530,7 +110523,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:12:44Z") AnnotationAssertion( "UMLS:C4023729") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-4th finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-4th finger") AnnotationAssertion( "HP:0010707") AnnotationAssertion(rdfs:label "1-4 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110543,7 +110536,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-03-26T05:12:44Z") AnnotationAssertion( "UMLS:C4023728") AnnotationAssertion( "Webbed 1-5 fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-5th fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-5th fingers") AnnotationAssertion( "HP:0010708") AnnotationAssertion(rdfs:label "1-5 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110558,7 +110551,7 @@ AnnotationAssertion( "HP:0006018") AnnotationAssertion( "UMLS:C4021236") AnnotationAssertion( "Syndactyly of second to fourth fingers") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index through ring fingers") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed index through ring fingers") AnnotationAssertion( "HP:0010709") AnnotationAssertion(rdfs:label "2-4 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110570,7 +110563,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:12:44Z") AnnotationAssertion( "UMLS:C4023727") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed third, fourth and fifth toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed third, fourth and fifth toes") AnnotationAssertion( "HP:0010710") AnnotationAssertion(rdfs:label "3-5 finger syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110583,7 +110576,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-03-26T05:22:26Z") AnnotationAssertion( "UMLS:C4023726") AnnotationAssertion( "Webbed 1st-2nd toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed first and second toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed first and second toes") AnnotationAssertion( "HP:0010711") AnnotationAssertion(rdfs:label "1-2 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110595,7 +110588,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:22:26Z") AnnotationAssertion( "UMLS:C4023725") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed first through fourth toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed first through fourth toes") AnnotationAssertion( "HP:0010712") AnnotationAssertion(rdfs:label "1-4 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110609,7 +110602,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0005812") AnnotationAssertion( "UMLS:C4021235") AnnotationAssertion( "Syndactyly of all toes") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-5th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 1st-5th toes") AnnotationAssertion( "HP:0010713") AnnotationAssertion(rdfs:label "1-5 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110625,7 +110618,7 @@ AnnotationAssertion( "UMLS:C4021234") AnnotationAssertion( "Syndactyly of toes 2, 3 and 4") AnnotationAssertion( "Syndactyly toes 2-4") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-4th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-4th toes") AnnotationAssertion( "HP:0010714") AnnotationAssertion(rdfs:label "2-4 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110637,7 +110630,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:22:26Z") AnnotationAssertion( "UMLS:C4023724") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-5th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 2nd-5th toes") AnnotationAssertion( "HP:0010715") AnnotationAssertion(rdfs:label "2-5 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110649,7 +110642,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-03-26T05:22:26Z") AnnotationAssertion( "UMLS:C4023723") -AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 3rd-5th toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Webbed 3rd-5th toes") AnnotationAssertion( "HP:0010716") AnnotationAssertion(rdfs:label "3-5 toe syndactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110680,10 +110673,10 @@ AnnotationAssertion( "UMLS:C4072880") AnnotationAssertion( "UMLS:C4072881") AnnotationAssertion( "UMLS:C4073290") -AnnotationAssertion(Annotation( ) "Abnormality of hair texture") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair consistency") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair curl pattern") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair volume") +AnnotationAssertion(Annotation( ) "Abnormality of hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair consistency") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair curl pattern") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hair volume") AnnotationAssertion( "HP:0010719") AnnotationAssertion(rdfs:label "Abnormality of hair texture") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110695,8 +110688,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-20T09:53:15Z") AnnotationAssertion( "UMLS:C4023721") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal distribution of hair") -AnnotationAssertion(Annotation( ) "Abnormal hair pattern") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal distribution of hair") +AnnotationAssertion(Annotation( ) "Abnormal hair pattern") AnnotationAssertion( "HP:0010720") AnnotationAssertion(rdfs:label "Abnormal hair pattern") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110708,9 +110701,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-20T10:05:04Z") AnnotationAssertion( "UMLS:C3280303") -AnnotationAssertion(Annotation( ) "Abnormal hair whorl") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hair whorls") -AnnotationAssertion(Annotation( ) "Abnormal whorl of hair") +AnnotationAssertion(Annotation( ) "Abnormal hair whorl") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hair whorls") +AnnotationAssertion(Annotation( ) "Abnormal whorl of hair") AnnotationAssertion( "HP:0010721") AnnotationAssertion(rdfs:label "Abnormal hair whorl") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110722,7 +110715,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-20T10:11:45Z") AnnotationAssertion( "UMLS:C1168239") -AnnotationAssertion(Annotation( ) "Asymmetric ears") +AnnotationAssertion(Annotation( ) "Asymmetric ears") AnnotationAssertion( "HP:0010722") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Asymmetry of the ears") @@ -110781,7 +110774,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-20T11:09:59Z") AnnotationAssertion( "UMLS:C4023718") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent retina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent retina") AnnotationAssertion( "HP:0010728") AnnotationAssertion(rdfs:label "Aplasia of the retina") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -110805,8 +110798,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-04-21T04:16:59Z") AnnotationAssertion( "SNOMEDCT_US:253209004") AnnotationAssertion( "UMLS:C0431449") -AnnotationAssertion(Annotation( ) "Double eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of eyebrow") +AnnotationAssertion(Annotation( ) "Double eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of eyebrow") AnnotationAssertion( "HP:0010730") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Double eyebrow is commonly a feature of Mowat Wilson syndrome.") @@ -110820,7 +110813,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-21T04:46:32Z") AnnotationAssertion( "UMLS:C4023717") -AnnotationAssertion(Annotation( ) "Extension of eyebrows towards upper eyelid") +AnnotationAssertion(Annotation( ) "Extension of eyebrows towards upper eyelid") AnnotationAssertion( "HP:0010731") AnnotationAssertion(rdfs:comment "This is commonly a feature of Jacobson syndrome.") AnnotationAssertion(rdfs:label "Extension of eyebrows towards upper eyelid") @@ -110832,7 +110825,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-21T05:11:04Z") AnnotationAssertion( "UMLS:C4023716") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid nodules") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid nodules") AnnotationAssertion( "HP:0010732") AnnotationAssertion(rdfs:label "Nodular changes affecting the eyelids") SubClassOf( ) @@ -110844,7 +110837,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-21T05:18:41Z") AnnotationAssertion( "UMLS:C1854409") -AnnotationAssertion(Annotation( ) Annotation( ) "Port-wine stain on eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Port-wine stain on eyelid") AnnotationAssertion( "HP:0010733") AnnotationAssertion(rdfs:label "Naevus flammeus of the eyelid") SubClassOf( ) @@ -110917,10 +110910,10 @@ AnnotationAssertion( "UMLS:C0235886") AnnotationAssertion( "UMLS:C0239340") AnnotationAssertion( "Edema of the lower limbs") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid accumulation in lower limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid accumulation in lower limbs") AnnotationAssertion( "Leg edema") AnnotationAssertion(Annotation( ) "Leg oedema") -AnnotationAssertion(Annotation( ) "Lower leg swelling") +AnnotationAssertion(Annotation( ) "Lower leg swelling") AnnotationAssertion(Annotation( ) "Oedema of the lower limbs") AnnotationAssertion(Annotation( ) "Pedal oedema") AnnotationAssertion( "Peripheral edema of lower extremity") @@ -110940,7 +110933,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-04-22T02:17:15Z") AnnotationAssertion( "SNOMEDCT_US:102558002") AnnotationAssertion( "UMLS:C0522035") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid accumulation in upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid accumulation in upper limbs") AnnotationAssertion(Annotation( ) "Oedema of the upper limbs") AnnotationAssertion( "HP:0010742") AnnotationAssertion(rdfs:label "Edema of the upper limbs") @@ -110961,7 +110954,7 @@ AnnotationAssertion( "UMLS:C1849020") AnnotationAssertion( "Hypoplasia of the metatarsal bones") AnnotationAssertion( "Hypoplastic metatarsals") -AnnotationAssertion(Annotation( ) Annotation( ) "Short long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Short long bone of foot") AnnotationAssertion( "Short metatarsal bone") AnnotationAssertion( "Short metatarsals") AnnotationAssertion( "Shortened metatarsals") @@ -110981,7 +110974,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-22T04:30:18Z") AnnotationAssertion( "UMLS:C4021232") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent long bone of foot") AnnotationAssertion( "Aplasia of the metatarsal bones") AnnotationAssertion( "HP:0010744") AnnotationAssertion(rdfs:label "Absent metatarsal bone") @@ -110994,7 +110987,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-22T04:33:06Z") AnnotationAssertion( "UMLS:C4021231") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the toes") AnnotationAssertion( "Aphalangia of the toes") AnnotationAssertion( "HP:0010745") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the toes") @@ -111007,7 +111000,7 @@ SubClassOf( ) AnnotationAssertion( "2010-04-22T04:33:06Z") AnnotationAssertion( "UMLS:C4023715") -AnnotationAssertion(Annotation( ) Annotation( ) "Small toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Small toe bones") AnnotationAssertion( "HP:0010746") AnnotationAssertion(rdfs:label "Hypoplasia of the phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -111061,12 +111054,12 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:246815009") AnnotationAssertion( "UMLS:C0423124") AnnotationAssertion( "UMLS:C2674149") -AnnotationAssertion(Annotation( ) Annotation( ) "Baggy eyes") -AnnotationAssertion(Annotation( ) Annotation( ) "Droopy eyelid skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra eyelid skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Baggy eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Droopy eyelid skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra eyelid skin") AnnotationAssertion( "Eyelid dermatochalasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Redundant eyelid skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Hooding of eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Redundant eyelid skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Hooding of eyelids") AnnotationAssertion( "HP:0010750") AnnotationAssertion(rdfs:label "Dermatochalasis") SubClassOf( ) @@ -111077,14 +111070,14 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-23T10:29:03Z") AnnotationAssertion( "UMLS:C1849227") -AnnotationAssertion(Annotation( ) "Chin butt") -AnnotationAssertion(Annotation( ) Annotation( ) "Chin dent") -AnnotationAssertion(Annotation( ) "Chin dimple") -AnnotationAssertion(Annotation( ) "Chin skin dimple") -AnnotationAssertion(Annotation( ) "Dimple chin") +AnnotationAssertion(Annotation( ) "Chin butt") +AnnotationAssertion(Annotation( ) Annotation( ) "Chin dent") +AnnotationAssertion(Annotation( ) "Chin dimple") +AnnotationAssertion(Annotation( ) "Chin skin dimple") +AnnotationAssertion(Annotation( ) "Dimple chin") AnnotationAssertion(Annotation( ) "Gelasin of chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Indentation of chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Chin dimples") +AnnotationAssertion(Annotation( ) Annotation( ) "Indentation of chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Chin dimples") AnnotationAssertion( "HP:0010751") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Dimple chin") @@ -111097,7 +111090,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-04-23T10:32:09Z") AnnotationAssertion( "SNOMEDCT_US:92822004") AnnotationAssertion( "UMLS:C0685786") -AnnotationAssertion(Annotation( ) "Cleft lower jaw") +AnnotationAssertion(Annotation( ) "Cleft lower jaw") AnnotationAssertion(Annotation( ) "Mandibular cleft") AnnotationAssertion( "HP:0010752") AnnotationAssertion( ) @@ -111126,13 +111119,13 @@ AnnotationAssertion( "UMLS:C0424721") AnnotationAssertion( "UMLS:C1865318") AnnotationAssertion( "UMLS:C4280366") -AnnotationAssertion(Annotation( ) "Abnormality of the jaw joint") +AnnotationAssertion(Annotation( ) "Abnormality of the jaw joint") AnnotationAssertion(Annotation( ) "Anomaly of the temporomandibular joint") -AnnotationAssertion(Annotation( ) "Deformity of the jaw joint") -AnnotationAssertion(Annotation( ) "Malformation of jaw joint") +AnnotationAssertion(Annotation( ) "Deformity of the jaw joint") +AnnotationAssertion(Annotation( ) "Malformation of jaw joint") AnnotationAssertion(Annotation( ) "Deformity of the temporomandibular joint") AnnotationAssertion(Annotation( ) "Derangement of the temporomandibular joint") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the temporomandibular joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the temporomandibular joint") AnnotationAssertion( "HP:0010754") AnnotationAssertion(rdfs:label "Abnormality of the temporomandibular joint") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -111143,22 +111136,22 @@ SubClassOf( ) "Asymmetry between the left and right sides of the maxilla.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-23T10:38:44Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the upper jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of upper jaw") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked upper jaw") AnnotationAssertion( "SNOMEDCT_US:235083001") AnnotationAssertion( "UMLS:C0399519") AnnotationAssertion(Annotation( ) "Asymmetry of right and left side of the maxilla") AnnotationAssertion(Annotation( ) "Canted maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Canted upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Canted upper jaw") AnnotationAssertion(Annotation( ) "Crooked maxilla") AnnotationAssertion(Annotation( ) "Tilted maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Tilted upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Tilted upper jaw") AnnotationAssertion(Annotation( ) "Unequal sides of maxilla") AnnotationAssertion(Annotation( ) "Uneven maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven upper jaw") AnnotationAssertion(Annotation( ) "Deviation of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Deviation of the upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Deviation of the upper jaw") AnnotationAssertion( "HP:0010755") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Asymmetry of the maxilla") @@ -111184,15 +111177,15 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-23T10:42:17Z") AnnotationAssertion( "UMLS:C4023712") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the intermaxillary bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the intermaxillary bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the premaxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the primary palate bone") AnnotationAssertion(Annotation( ) "Aplasia of the intermaxillary bone") AnnotationAssertion(Annotation( ) "Aplasia of the primary palate bone") AnnotationAssertion(Annotation( ) "Failure of development of premaxilla") AnnotationAssertion(Annotation( ) "Failure of development of the primary palate bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing premaxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing primary palate bone") AnnotationAssertion( "HP:0010757") AnnotationAssertion(rdfs:label "Aplasia of the premaxilla") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -111205,10 +111198,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-23T10:59:07Z") AnnotationAssertion( "UMLS:C4023711") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the intermaxillary bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the intermaxillary bone") AnnotationAssertion(Annotation( ) "Abnormality of the intermaxillary segment of the maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the premaxillary bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the premaxillary bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the primary palate bone") AnnotationAssertion( "HP:0010758") AnnotationAssertion(rdfs:label "Abnormality of the premaxilla") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -111220,11 +111213,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-23T11:01:23Z") AnnotationAssertion( "UMLS:C2749369") -AnnotationAssertion(Annotation( ) Annotation( ) "Anterior position of the premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Anterior position of the primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Anterior position of the premaxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Anterior position of the primary palate bone") AnnotationAssertion(Annotation( ) "Premaxillary bone excess") AnnotationAssertion(Annotation( ) "Prominence of the intermaxillary bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominence of the primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominence of the primary palate bone") AnnotationAssertion( "Prominent premaxilla") AnnotationAssertion( "HP:0010759") AnnotationAssertion( ) @@ -111242,9 +111235,9 @@ AnnotationAssertion( "HP:0010108") AnnotationAssertion( "HP:0011306") AnnotationAssertion( "UMLS:C3553754") -AnnotationAssertion(Annotation( ) "Absent toe") +AnnotationAssertion(Annotation( ) "Absent toe") AnnotationAssertion( "Aplasia of toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent toes") AnnotationAssertion( "Aplasia of the toes") AnnotationAssertion( "HP:0010760") AnnotationAssertion( ) @@ -111306,8 +111299,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-24T03:31:00Z") AnnotationAssertion( "UMLS:C2748682") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of eyelashes") -AnnotationAssertion(Annotation( ) "Short eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of eyelashes") +AnnotationAssertion(Annotation( ) "Short eyelashes") AnnotationAssertion( "HP:0010764") AnnotationAssertion(rdfs:comment "Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls.") AnnotationAssertion(rdfs:label "Short eyelashes") @@ -111477,10 +111470,10 @@ SubClassOf( ) "The presence of an abnormally large pelvis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-29T11:03:39Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Large pelvis") +AnnotationAssertion(Annotation( ) Annotation( ) "Large pelvis") AnnotationAssertion( "UMLS:C4019074") AnnotationAssertion( "UMLS:C4072882") -AnnotationAssertion(Annotation( ) "Large pelvis bone") +AnnotationAssertion(Annotation( ) "Large pelvis bone") AnnotationAssertion( "HP:0010779") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Large pelvis bone") @@ -111514,7 +111507,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-04-30T11:34:41Z") AnnotationAssertion( "SNOMEDCT_US:301854006") AnnotationAssertion( "UMLS:C0578531") -AnnotationAssertion(Annotation( ) Annotation( ) "Skin dimples") +AnnotationAssertion(Annotation( ) Annotation( ) "Skin dimples") AnnotationAssertion( "HP:0010781") AnnotationAssertion(rdfs:label "Skin dimple") SubClassOf( ) @@ -111527,7 +111520,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4023704") AnnotationAssertion( "Acromial dimple") AnnotationAssertion(Annotation( ) "Bi-acromial dimples") -AnnotationAssertion(Annotation( ) Annotation( ) "Shoulder dimples") +AnnotationAssertion(Annotation( ) Annotation( ) "Shoulder dimples") AnnotationAssertion( "HP:0010782") AnnotationAssertion(rdfs:comment "Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples.") AnnotationAssertion(rdfs:label "Shoulder dimple") @@ -111549,7 +111542,7 @@ AnnotationAssertion( "SNOMEDCT_US:86735004") AnnotationAssertion( "UMLS:C0016382") AnnotationAssertion( "UMLS:C0041834") -AnnotationAssertion(Annotation( ) "Redness of skin or mucous membrane") +AnnotationAssertion(Annotation( ) "Redness of skin or mucous membrane") AnnotationAssertion( "HP:0010783") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Erythema") @@ -111560,12 +111553,12 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the uterus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-04T09:35:15Z") -AnnotationAssertion(Annotation( ) "Uterine cancer") +AnnotationAssertion(Annotation( ) "Uterine cancer") AnnotationAssertion( "MSH:D014594") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126908007") AnnotationAssertion( "UMLS:C0042138") -AnnotationAssertion(Annotation( ) Annotation( ) "Uterine tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Uterine tumor") AnnotationAssertion(Annotation( ) "Uterine tumour") AnnotationAssertion( "Uterine neoplasia") AnnotationAssertion( "HP:0010784") @@ -111608,7 +111601,7 @@ AnnotationAssertion( AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "UMLS:C0679347") AnnotationAssertion( "UMLS:C4020767") -AnnotationAssertion(Annotation( ) Annotation( ) "Genital tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Genital tumor") AnnotationAssertion(Annotation( ) "Genital tumour") AnnotationAssertion( "Genital neoplasia") AnnotationAssertion( "HP:0010787") @@ -111621,12 +111614,12 @@ SubClassOf( ) "The presence of a neoplasm of the testis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-04T09:48:35Z") -AnnotationAssertion(Annotation( ) "Testicular cancer") +AnnotationAssertion(Annotation( ) "Testicular cancer") AnnotationAssertion( "MSH:D013736") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126900000") AnnotationAssertion( "UMLS:C0039590") -AnnotationAssertion(Annotation( ) Annotation( ) "Testicular tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Testicular tumor") AnnotationAssertion(Annotation( ) "Testicular tumour") AnnotationAssertion( "Testicular neoplasia") AnnotationAssertion( "HP:0010788") @@ -111675,7 +111668,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-05-04T10:34:02Z") AnnotationAssertion( "SNOMEDCT_US:110992006") AnnotationAssertion( "UMLS:C0544857") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched nail") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched nail") AnnotationAssertion( "duplicated nail") AnnotationAssertion( "HP:0010793") AnnotationAssertion( ) @@ -111740,7 +111733,7 @@ AnnotationAssertion( "UMLS:C0406814") AnnotationAssertion(Annotation( ) "Ephelis of lip") AnnotationAssertion( "Labial lentigo") -AnnotationAssertion(Annotation( ) "Lip freckle") +AnnotationAssertion(Annotation( ) "Lip freckle") AnnotationAssertion( "Lip lentigo") AnnotationAssertion( "HP:0010798") AnnotationAssertion( ) @@ -111770,11 +111763,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-26T02:01:31Z") AnnotationAssertion( "UMLS:C2053435") -AnnotationAssertion(Annotation( ) "Absent cupid's bow") +AnnotationAssertion(Annotation( ) "Absent cupid's bow") AnnotationAssertion(Annotation( ) "Agenesis of cupid's bow") AnnotationAssertion(Annotation( ) "Failure of development of cupid's bow") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of cupid's bow") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing cupid's bow") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of cupid's bow") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing cupid's bow") AnnotationAssertion(Annotation( ) "Aplasia of cupid's bow") AnnotationAssertion( "HP:0010800") AnnotationAssertion( ) @@ -111804,8 +111797,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-26T02:22:18Z") AnnotationAssertion( "UMLS:C4023699") -AnnotationAssertion(Annotation( ) Annotation( ) "Darkening of skin around the mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased pigmentation around the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Darkening of skin around the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased pigmentation around the mouth") AnnotationAssertion( "HP:0010802") AnnotationAssertion(rdfs:comment "Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately.") AnnotationAssertion(rdfs:label "Perioral hyperpigmentation") @@ -111822,9 +111815,9 @@ AnnotationAssertion( ) "Eclabium of upper lip") AnnotationAssertion(Annotation( ) "Everted prominent upper lip") AnnotationAssertion(Annotation( ) "Everted upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Drooping upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Drooping upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding upper lip") AnnotationAssertion( "HP:0010803") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately.") @@ -111843,8 +111836,8 @@ AnnotationAssertion( "UMLS:C1850072") AnnotationAssertion( "UMLS:C1853383") AnnotationAssertion( "Inverted V-shaped upper lip") -AnnotationAssertion(Annotation( ) "Tented mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Tented upper lip") +AnnotationAssertion(Annotation( ) "Tented mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Tented upper lip") AnnotationAssertion( "HP:0010804") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture.") @@ -111857,8 +111850,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-26T03:17:08Z") AnnotationAssertion( "UMLS:C3553471") -AnnotationAssertion(Annotation( ) "Upturned corners of mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Upturned mouth") +AnnotationAssertion(Annotation( ) "Upturned corners of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Upturned mouth") AnnotationAssertion(Annotation( ) "Upturned oral commisures") AnnotationAssertion( "HP:0010805") AnnotationAssertion( ) @@ -111873,11 +111866,11 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-26T03:25:01Z") AnnotationAssertion( "HP:0000186") AnnotationAssertion( "UMLS:C1856202") -AnnotationAssertion(Annotation( ) "Carp-like mouth") -AnnotationAssertion(Annotation( ) "Carp-shaped mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Fish mouth") -AnnotationAssertion(Annotation( ) "Large, carp-shaped mouth") -AnnotationAssertion(Annotation( ) "Wide, carp-shaped mouth") +AnnotationAssertion(Annotation( ) "Carp-like mouth") +AnnotationAssertion(Annotation( ) "Carp-shaped mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Fish mouth") +AnnotationAssertion(Annotation( ) "Large, carp-shaped mouth") +AnnotationAssertion(Annotation( ) "Wide, carp-shaped mouth") AnnotationAssertion( "HP:0010806") AnnotationAssertion(rdfs:comment "The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms).") AnnotationAssertion(rdfs:label "U-Shaped upper lip vermilion") @@ -111891,9 +111884,9 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D024343") AnnotationAssertion( "SNOMEDCT_US:35580009") AnnotationAssertion( "UMLS:C0266061") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of overlap of upper and lower teeth") -AnnotationAssertion(Annotation( ) "Open bite") -AnnotationAssertion(Annotation( ) Annotation( ) "Open bite between upper and lower teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of overlap of upper and lower teeth") +AnnotationAssertion(Annotation( ) "Open bite") +AnnotationAssertion(Annotation( ) Annotation( ) "Open bite between upper and lower teeth") AnnotationAssertion( "HP:0010807") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion.") @@ -111912,10 +111905,10 @@ AnnotationAssertion(Annotation( ) "Lingual prominence") AnnotationAssertion(Annotation( ) "Lingual protrusion") AnnotationAssertion(Annotation( ) "Prolapse of tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent tongue") -AnnotationAssertion(Annotation( ) "Protruding tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent tongue") +AnnotationAssertion(Annotation( ) "Protruding tongue") AnnotationAssertion( "Tongue protrusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Tongue sticking out of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Tongue sticking out of mouth") AnnotationAssertion( "HP:0010808") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately.") @@ -111989,11 +111982,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-05T11:12:26Z") AnnotationAssertion( "UMLS:C4023695") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal number of hair swirls") -AnnotationAssertion(Annotation( ) "Abnormal number of hair whorls") -AnnotationAssertion(Annotation( ) Annotation( ) "Double crown (hair whorls)") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra hair swirls") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra hair whorl") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal number of hair swirls") +AnnotationAssertion(Annotation( ) "Abnormal number of hair whorls") +AnnotationAssertion(Annotation( ) Annotation( ) "Double crown (hair whorls)") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra hair swirls") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra hair whorl") AnnotationAssertion(Annotation( ) "Supernumary hair swirls") AnnotationAssertion(Annotation( ) "Supernumary hair whorl") AnnotationAssertion( "HP:0010813") @@ -112009,8 +112002,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-05T11:13:42Z") AnnotationAssertion( "UMLS:C4023694") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal location of hair swirl") -AnnotationAssertion(Annotation( ) "Abnormal position of hair whorl") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal location of hair swirl") +AnnotationAssertion(Annotation( ) "Abnormal position of hair whorl") AnnotationAssertion( "HP:0010814") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls.") @@ -112102,7 +112095,7 @@ AnnotationAssertion( ) "Drop seizures") AnnotationAssertion( "Hypotonic seizure") AnnotationAssertion(Annotation( ) "Hypotonic seizures") -AnnotationAssertion(Annotation( ) "Sudden loss of muscle tone") +AnnotationAssertion(Annotation( ) "Sudden loss of muscle tone") AnnotationAssertion( "HP:0010819") AnnotationAssertion(rdfs:comment "This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known.") AnnotationAssertion(rdfs:label "Atonic seizure") @@ -112221,7 +112214,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D019569") AnnotationAssertion( "SNOMEDCT_US:13753008") AnnotationAssertion( "UMLS:C0278152") -AnnotationAssertion(Annotation( ) Annotation( ) "Spasms on one side of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Spasms on one side of the face") AnnotationAssertion(Annotation( ) "Hemifacial spasms") AnnotationAssertion( "HP:0010828") AnnotationAssertion(rdfs:comment "Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus.") @@ -112236,10 +112229,10 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006901") AnnotationAssertion( "HP:0100772") AnnotationAssertion( "UMLS:C4021222") -AnnotationAssertion(Annotation( ) "Abnormality of temperature sensation") -AnnotationAssertion(Annotation( ) "Impaired temperature sensation") +AnnotationAssertion(Annotation( ) "Abnormality of temperature sensation") +AnnotationAssertion(Annotation( ) "Impaired temperature sensation") AnnotationAssertion( "Impaired thermal sensitivity") -AnnotationAssertion(Annotation( ) "Loss of temperature sensation") +AnnotationAssertion(Annotation( ) "Loss of temperature sensation") AnnotationAssertion( "HP:0010829") AnnotationAssertion(rdfs:comment "Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C.") AnnotationAssertion(rdfs:label "Impaired temperature sensation") @@ -112252,7 +112245,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-07-10T07:09:54Z") AnnotationAssertion( "UMLS:C4021221") AnnotationAssertion( "Abnormal thigmesthesia") -AnnotationAssertion(Annotation( ) "Impaired touch sensation") +AnnotationAssertion(Annotation( ) "Impaired touch sensation") AnnotationAssertion( "Loss of tactile sensation") AnnotationAssertion( "HP:0010830") AnnotationAssertion(rdfs:label "Impaired tactile sensation") @@ -112321,7 +112314,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-07-10T07:39:09Z") AnnotationAssertion( "UMLS:C4020766") AnnotationAssertion( "UMLS:C4023689") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal copper levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal copper levels") AnnotationAssertion( "HP:0010836") AnnotationAssertion(rdfs:comment "An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins.") AnnotationAssertion(rdfs:label "Abnormal circulating copper concentration") @@ -112334,7 +112327,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-10T07:39:36Z") AnnotationAssertion( "UMLS:C0240997") -AnnotationAssertion(Annotation( ) "Decreased serum ceruloplasmin") +AnnotationAssertion(Annotation( ) "Decreased serum ceruloplasmin") AnnotationAssertion( "Decreased serum ceruloplasminA") AnnotationAssertion(Annotation( ) "Hypoceruloplasminaemia") AnnotationAssertion( "Hypoceruloplasminemia") @@ -112360,7 +112353,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-10T07:44:50Z") AnnotationAssertion( "UMLS:C4023688") -AnnotationAssertion(Annotation( ) "Increased urinary copper concentration") +AnnotationAssertion(Annotation( ) "Increased urinary copper concentration") AnnotationAssertion( "HP:0010839") AnnotationAssertion(rdfs:label "Increased urinary copper concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -112628,10 +112621,10 @@ AnnotationAssertion( AnnotationAssertion( "HP:0007196") AnnotationAssertion( "SNOMEDCT_US:40700009") AnnotationAssertion( "UMLS:C0036857") -AnnotationAssertion(Annotation( ) "Early and severe mental retardation") -AnnotationAssertion(Annotation( ) "Intellectual disability, severe") -AnnotationAssertion(Annotation( ) "Mental retardation, severe") -AnnotationAssertion(Annotation( ) "Severe mental retardation") +AnnotationAssertion(Annotation( ) "Early and severe mental retardation") +AnnotationAssertion(Annotation( ) "Intellectual disability, severe") +AnnotationAssertion(Annotation( ) "Mental retardation, severe") +AnnotationAssertion(Annotation( ) "Severe mental retardation") AnnotationAssertion( "HP:0010864") AnnotationAssertion(rdfs:comment "Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision.") AnnotationAssertion(rdfs:label "Intellectual disability, severe") @@ -112656,7 +112649,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-08-03T09:55:15Z") AnnotationAssertion( "UMLS:C0238577") -AnnotationAssertion(Annotation( ) "Abdominal wall defect") +AnnotationAssertion(Annotation( ) "Abdominal wall defect") AnnotationAssertion( "Congenital anterior abdominal wall defect") AnnotationAssertion( "HP:0010866") AnnotationAssertion(rdfs:label "Abdominal wall defect") @@ -112771,7 +112764,7 @@ AnnotationAssertion( "UMLS:C4023679") AnnotationAssertion( "Abnormal circulating protein level") AnnotationAssertion( "Abnormality of circulating protein level") -AnnotationAssertion(Annotation( ) "Blood protein disease") +AnnotationAssertion(Annotation( ) "Blood protein disease") AnnotationAssertion( "Serum protein abnormality") AnnotationAssertion( "HP:0010876") AnnotationAssertion(rdfs:label "Abnormal circulating protein concentration") @@ -112831,7 +112824,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-09-13T08:24:04Z") AnnotationAssertion( "SNOMEDCT_US:90009001") AnnotationAssertion( "UMLS:C0266785") -AnnotationAssertion(Annotation( ) "Umbilical cord issue") +AnnotationAssertion(Annotation( ) "Umbilical cord issue") AnnotationAssertion( "HP:0010881") AnnotationAssertion(rdfs:label "Abnormality of the umbilical cord") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -112892,7 +112885,7 @@ AnnotationAssertion( "Aseptic bone necrosis") AnnotationAssertion( "Aseptic necrosis") AnnotationAssertion( "Bone infarction") -AnnotationAssertion(Annotation( ) Annotation( ) "Death of bone due to decreased blood supply") +AnnotationAssertion(Annotation( ) Annotation( ) "Death of bone due to decreased blood supply") AnnotationAssertion(Annotation( ) "Ischaemic bone necrosis") AnnotationAssertion( "Ischemic bone necrosis") AnnotationAssertion( "Osteochondronecrosis") @@ -113035,7 +113028,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C537236") AnnotationAssertion( "SNOMEDCT_US:64852002") AnnotationAssertion( "UMLS:C0268563") -AnnotationAssertion(Annotation( ) Annotation( ) "High plasma sarcosine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High plasma sarcosine levels") AnnotationAssertion( "HP:0010896") AnnotationAssertion(rdfs:comment "Sarcosine is the N-methyl derivative of glycine.") AnnotationAssertion(rdfs:label "Hypersarcosinemia") @@ -113048,7 +113041,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-11-30T05:43:45Z") AnnotationAssertion( "UMLS:C4023669") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine sarcosine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine sarcosine levels") AnnotationAssertion( "HP:0010897") AnnotationAssertion(rdfs:label "Hypersarcosinuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -113153,7 +113146,7 @@ AnnotationAssertion( "SNOMEDCT_US:124628005") AnnotationAssertion( "SNOMEDCT_US:410058007") AnnotationAssertion( "UMLS:C0220992") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood histidine level") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood histidine level") AnnotationAssertion( "Histidinemia") AnnotationAssertion( "HP:0010906") AnnotationAssertion(rdfs:comment "Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter.") @@ -113205,7 +113198,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C536524") AnnotationAssertion( "SNOMEDCT_US:47719001") AnnotationAssertion( "UMLS:C0268573") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood valine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood valine concentration") AnnotationAssertion( "HP:0010910") AnnotationAssertion(rdfs:label "Hypervalinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -113218,7 +113211,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-08T08:45:56Z") AnnotationAssertion( "SNOMEDCT_US:24013007") AnnotationAssertion( "UMLS:C0268576") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood leucine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood leucine concentration") AnnotationAssertion( "HP:0010911") AnnotationAssertion(rdfs:comment "Normal leucine blood levels are around 120-160 micromole per liter.") AnnotationAssertion(rdfs:label "Hyperleucinemia") @@ -113242,7 +113235,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-08T08:49:42Z") AnnotationAssertion( "UMLS:C4023657") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood isoleucine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood isoleucine concentration") AnnotationAssertion( "HP:0010913") AnnotationAssertion(rdfs:comment "Normal isoleucine blood levels are around 60-80 micromole per liter.") AnnotationAssertion(rdfs:label "Hyperisoleucinemia") @@ -113504,7 +113497,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-01-16T11:37:29Z") AnnotationAssertion( "UMLS:C4023641") -AnnotationAssertion(Annotation( ) "Abnormality of the upper urinary tract") +AnnotationAssertion(Annotation( ) "Abnormality of the upper urinary tract") AnnotationAssertion( "HP:0010935") AnnotationAssertion(rdfs:comment "The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters.") AnnotationAssertion(rdfs:label "Abnormality of the upper urinary tract") @@ -113530,14 +113523,14 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-01-16T02:19:38Z") AnnotationAssertion( "UMLS:C4023639") AnnotationAssertion( "UMLS:C4280361") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal skeleton") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal skeleton") AnnotationAssertion(Annotation( ) "Anomaly of the nasal skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the bones of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of the bones of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of the nasal skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the bones of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the bones of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of the bones of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of the nasal skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the bones of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal skeleton") AnnotationAssertion( "HP:0010937") AnnotationAssertion(rdfs:label "Abnormal nasal skeleton morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -113552,10 +113545,10 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C2164724") AnnotationAssertion( "UMLS:C4023638") AnnotationAssertion( "UMLS:C4280360") -AnnotationAssertion(Annotation( ) "Abnormality of the external nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the external nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the external nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the external nose") +AnnotationAssertion(Annotation( ) "Abnormality of the external nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of the external nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the external nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the external nose") AnnotationAssertion( "HP:0010938") AnnotationAssertion(rdfs:label "Abnormal external nose morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -113567,10 +113560,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-01-16T02:28:45Z") AnnotationAssertion( "UMLS:C4023637") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal bone") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal bone") AnnotationAssertion(Annotation( ) "Anomaly of the nasal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal bones") AnnotationAssertion( "HP:0010939") AnnotationAssertion(rdfs:label "Abnormal nasal bone morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -113597,11 +113590,11 @@ AnnotationAssertion( "UMLS:C0339850") AnnotationAssertion( "UMLS:C0339851") AnnotationAssertion( "UMLS:C4023635") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of the nasal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of development of the nasal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of the nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of development of the nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of the nasal bone") AnnotationAssertion(Annotation( ) "Agenesis of the nasal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing nasal bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing nasal bone") AnnotationAssertion( "HP:0010941") AnnotationAssertion(rdfs:label "Aplasia of the nasal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -113781,7 +113774,7 @@ AnnotationAssertion( "UMLS:C0265856") AnnotationAssertion( "UMLS:C0344963") AnnotationAssertion(Annotation( ) "Hypoplastic right heart syndrome") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped right heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped right heart") AnnotationAssertion( "HP:0010954") AnnotationAssertion(rdfs:comment "Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill.") AnnotationAssertion(rdfs:label "Hypoplastic right heart") @@ -114069,7 +114062,7 @@ AnnotationAssertion( "B cell deficiency") AnnotationAssertion( "B cell lymphopenia") AnnotationAssertion( "Decreased B cell count") -AnnotationAssertion(Annotation( ) "Low B cell count") +AnnotationAssertion(Annotation( ) "Low B cell count") AnnotationAssertion( "Reduction in B cell number") AnnotationAssertion( "HP:0010976") AnnotationAssertion(rdfs:comment "Plasma B cells differentiate from B cells and secrete large amounts of antibodies.") @@ -114135,7 +114128,7 @@ AnnotationAssertion( "SNOMEDCT_US:267436001") AnnotationAssertion( "SNOMEDCT_US:363140000") AnnotationAssertion( "UMLS:C0020623") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of fat in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of fat in blood") AnnotationAssertion( "HP:0010981") AnnotationAssertion(rdfs:label "Hypolipoproteinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -114338,7 +114331,7 @@ SubClassOf( ) AnnotationAssertion( "2011-02-13T11:28:03Z") AnnotationAssertion( "UMLS:C4023603") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent optic tract") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent optic tract") AnnotationAssertion( "HP:0010999") AnnotationAssertion(rdfs:label "Aplasia of the optic tract") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114349,8 +114342,8 @@ SubClassOf( ) AnnotationAssertion( "2011-02-13T11:28:43Z") AnnotationAssertion( "UMLS:C4023602") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small optic tract") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped optic tract") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small optic tract") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped optic tract") AnnotationAssertion( "HP:0011000") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the optic tract") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114369,8 +114362,8 @@ AnnotationAssertion( "MSH:D010026") AnnotationAssertion( "SNOMEDCT_US:49347007") AnnotationAssertion( "UMLS:C0029464") -AnnotationAssertion(Annotation( ) "Increased bone density") -AnnotationAssertion(Annotation( ) "Increased bone mineral density") +AnnotationAssertion(Annotation( ) "Increased bone density") +AnnotationAssertion(Annotation( ) "Increased bone mineral density") AnnotationAssertion( "Osteosclerosis") AnnotationAssertion( "Osteosclerosis of bones") AnnotationAssertion( "HP:0011001") @@ -114388,7 +114381,7 @@ AnnotationAssertion( "SNOMEDCT_US:1926006") AnnotationAssertion( "SNOMEDCT_US:367489004") AnnotationAssertion( "UMLS:C0029454") -AnnotationAssertion(Annotation( ) Annotation( ) "Harder, denser, fracture-prone bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Harder, denser, fracture-prone bones") AnnotationAssertion( "Albers-Schoenberg disease") AnnotationAssertion( "Albers-Schonberg disease") AnnotationAssertion( "Albers-Schönberg disease") @@ -114408,9 +114401,9 @@ AnnotationAssertion( "UMLS:C0271183") AnnotationAssertion( "Severe myopia") AnnotationAssertion( "Severe myopia (> -6.00 diopters)") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Severe near sightedness") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Severely close sighted") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Severely near sighted") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Severe near sightedness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Severely close sighted") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Severely near sighted") AnnotationAssertion( "HP:0011003") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "High myopia") @@ -114454,8 +114447,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-02-19T11:15:01Z") AnnotationAssertion( "UMLS:C4023601") AnnotationAssertion(Annotation( ) "Abnormality of cervical musculature") -AnnotationAssertion(Annotation( ) "Abnormality of the musculature of the neck") -AnnotationAssertion(Annotation( ) "Neck muscle issue") +AnnotationAssertion(Annotation( ) "Abnormality of the musculature of the neck") +AnnotationAssertion(Annotation( ) "Neck muscle issue") AnnotationAssertion( "HP:0011006") AnnotationAssertion(rdfs:label "Abnormal morphology of the musculature of the neck") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114493,7 +114486,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-02-20T10:25:55Z") AnnotationAssertion( "SNOMEDCT_US:90734009") AnnotationAssertion( "UMLS:C0205191") -AnnotationAssertion(Annotation( ) "Chronic") +AnnotationAssertion(Annotation( ) "Chronic") AnnotationAssertion( "HP:0011010") AnnotationAssertion(rdfs:comment "According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more.") AnnotationAssertion(rdfs:label "Chronic") @@ -114587,7 +114580,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-02-22T07:09:31Z") AnnotationAssertion( "UMLS:C4023594") -AnnotationAssertion(Annotation( ) "Abnormality of the cell cycle") +AnnotationAssertion(Annotation( ) "Abnormality of the cell cycle") AnnotationAssertion( "HP:0011018") AnnotationAssertion(rdfs:label "Abnormality of the cell cycle") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114660,9 +114653,9 @@ AnnotationAssertion( "UMLS:C0017178") AnnotationAssertion( "UMLS:C4023588") AnnotationAssertion(Annotation( ) "Abnormality of the GI tract") -AnnotationAssertion(Annotation( ) "Abnormality of the gastrointestinal tract") -AnnotationAssertion(Annotation( ) "Digestive system disease") -AnnotationAssertion(Annotation( ) "Gastrointestinal disease") +AnnotationAssertion(Annotation( ) "Abnormality of the gastrointestinal tract") +AnnotationAssertion(Annotation( ) "Digestive system disease") +AnnotationAssertion(Annotation( ) "Gastrointestinal disease") AnnotationAssertion( "HP:0011024") AnnotationAssertion(rdfs:label "Abnormality of the gastrointestinal tract") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114686,8 +114679,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-02T06:17:46Z") AnnotationAssertion( "UMLS:C4023586") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small vagina") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped vagina") AnnotationAssertion( "HP:0011026") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the vagina") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114725,7 +114718,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-03T10:26:26Z") AnnotationAssertion( "UMLS:C1390214") -AnnotationAssertion(Annotation( ) Annotation( ) "Internal bleeding") +AnnotationAssertion(Annotation( ) Annotation( ) "Internal bleeding") AnnotationAssertion(Annotation( ) "Internal haemorrhage") AnnotationAssertion( "HP:0011029") AnnotationAssertion(rdfs:label "Internal hemorrhage") @@ -114764,8 +114757,8 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:1860003") AnnotationAssertion( "SNOMEDCT_US:190902006") AnnotationAssertion( "UMLS:C2364164") -AnnotationAssertion(Annotation( ) "Abnormality of fluid regulation") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid imbalance") +AnnotationAssertion(Annotation( ) "Abnormality of fluid regulation") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid imbalance") AnnotationAssertion( "HP:0011032") AnnotationAssertion(rdfs:label "Abnormality of fluid regulation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114880,8 +114873,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-09T08:29:34Z") AnnotationAssertion( "UMLS:C4023576") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cervical spine") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cervical spine") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cervical spine") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cervical spine") AnnotationAssertion( "HP:0011041") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the cervical spine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -114924,8 +114917,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-10T10:43:37Z") AnnotationAssertion( "UMLS:C4023573") AnnotationAssertion(Annotation( ) "Abnormal complement of permanent teeth") -AnnotationAssertion(Annotation( ) "Abnormal number of adult teeth") -AnnotationAssertion(Annotation( ) "Abnormal number of permanent teeth") +AnnotationAssertion(Annotation( ) "Abnormal number of adult teeth") +AnnotationAssertion(Annotation( ) "Abnormal number of permanent teeth") AnnotationAssertion( "Abnormal number of secondary dentition") AnnotationAssertion(Annotation( ) "Abnormal permanent tooth count") AnnotationAssertion( "HP:0011044") @@ -114945,11 +114938,11 @@ AnnotationAssertion(Annotation( ) "Failure of development of permanent maxillary central incisor") AnnotationAssertion(Annotation( ) "Absence of permanent maxillary central incisor") AnnotationAssertion(Annotation( ) "Absence of permanent upper central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of permanent upper front tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult upper central incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of permanent upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult upper central incisor") AnnotationAssertion(Annotation( ) "Missing permanent maxillary central incisor") AnnotationAssertion(Annotation( ) "Missing permanent upper central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing permanent upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing permanent upper front tooth") AnnotationAssertion( "HP:0011045") AnnotationAssertion(rdfs:comment "This feature is to be distinguished from single central upper incisor, which is median.") AnnotationAssertion(rdfs:label "Agenesis of permanent maxillary central incisor") @@ -114968,11 +114961,11 @@ AnnotationAssertion(Annotation( ) "Failure of development of primary maxillary central incisor") AnnotationAssertion(Annotation( ) "Absence of deciduous maxillary central incisor") AnnotationAssertion(Annotation( ) "Absence of primary maxillary central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper front baby tooth") AnnotationAssertion(Annotation( ) "Missing deciduous maxillary central incisor") AnnotationAssertion(Annotation( ) "Missing primary maxillary central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper front baby tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper front milk tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper front milk tooth") AnnotationAssertion( "HP:0011046") AnnotationAssertion(rdfs:comment "This feature is to be distinguished from single central upper incisor, which is median.") AnnotationAssertion(rdfs:label "Agenesis of primary maxillary central incisor") @@ -114995,8 +114988,8 @@ AnnotationAssertion(Annotation( ) "Absence of primary mandibular central incisor") AnnotationAssertion(Annotation( ) "Missing deciduous mandibular central incisor") AnnotationAssertion(Annotation( ) "Missing lower central incisor milk tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower front baby tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower front milk tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower front milk tooth") AnnotationAssertion(Annotation( ) "Missing lower front primary tooth") AnnotationAssertion(Annotation( ) "Missing primary mandibular central incisor") AnnotationAssertion( "HP:0011047") @@ -115014,11 +115007,11 @@ AnnotationAssertion( ) "Agenesis of adult mandibular central incisor") AnnotationAssertion(Annotation( ) "Failure of development of permanent mandibular central incisor") AnnotationAssertion(Annotation( ) "Absence of permanent lower central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of permanent lower front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of permanent lower front tooth") AnnotationAssertion(Annotation( ) "Absence of permanent mandibular central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult lower central incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult lower central incisor") AnnotationAssertion(Annotation( ) "Missing permanent lower central incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing permanent lower front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing permanent lower front tooth") AnnotationAssertion(Annotation( ) "Missing permanent mandibular central incisor") AnnotationAssertion( "HP:0011048") AnnotationAssertion(rdfs:label "Agenesis of permanent mandibular central incisor") @@ -115073,9 +115066,9 @@ AnnotationAssertion(Annotation( ) "Failure of development of bicuspid") AnnotationAssertion(Annotation( ) "Failure of development of premolar") AnnotationAssertion(Annotation( ) "Absence of bicuspid") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of premolar") AnnotationAssertion(Annotation( ) "Missing bicuspid") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing premolar") AnnotationAssertion( "HP:0011051") AnnotationAssertion(rdfs:comment "Note that premolar teeth occur only in the permanent dentition.") AnnotationAssertion(rdfs:label "Agenesis of premolar") @@ -115095,10 +115088,10 @@ AnnotationAssertion(Annotation( ) "Failure of development of maxillary premolar") AnnotationAssertion(Annotation( ) "Absence of maxillary bicuspid") AnnotationAssertion(Annotation( ) "Absence of maxillary premolar") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper premolar") AnnotationAssertion(Annotation( ) "Missing maxillary premolar") AnnotationAssertion(Annotation( ) "Missing upper bicuspid") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper premolar") AnnotationAssertion( "HP:0011052") AnnotationAssertion(rdfs:comment "Note that premolar teeth occur only in the permanent dentition.") AnnotationAssertion(rdfs:label "Agenesis of maxillary premolar") @@ -115113,9 +115106,9 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4023564") AnnotationAssertion( "UMLS:C4280349") AnnotationAssertion(Annotation( ) "Failure of development of mandibular premolar") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower premolar") AnnotationAssertion(Annotation( ) "Absence of mandibular premolar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower premolar") AnnotationAssertion(Annotation( ) "Missing mandibular premolar") AnnotationAssertion( "HP:0011053") AnnotationAssertion(rdfs:label "Agenesis of mandibular premolar") @@ -115129,10 +115122,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-10T11:41:46Z") AnnotationAssertion( "UMLS:C4021203") AnnotationAssertion( "UMLS:C4280348") -AnnotationAssertion(Annotation( ) "Absent molars") +AnnotationAssertion(Annotation( ) "Absent molars") AnnotationAssertion(Annotation( ) "Failure of development of molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing molar") AnnotationAssertion( "HP:0011054") AnnotationAssertion(rdfs:label "Agenesis of molar") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115149,10 +115142,10 @@ AnnotationAssertion( ) "Agenesis of secondary molar") AnnotationAssertion(Annotation( ) "Failure of development of permanent molar") AnnotationAssertion(Annotation( ) "Failure of development of secondary molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of adult molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of adult molar") AnnotationAssertion(Annotation( ) "Absence of permanent molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing permanent molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing adult molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing permanent molar") AnnotationAssertion( "HP:0011055") AnnotationAssertion(rdfs:label "Agenesis of permanent molar") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115169,9 +115162,9 @@ AnnotationAssertion(Annotation( ) "Failure of development of first permanent molar") AnnotationAssertion(Annotation( ) "Failure of development of six year molar") AnnotationAssertion(Annotation( ) "Absence of first permanent molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of six year molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing first permanent molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing six year molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of six year molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing first permanent molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing six year molar") AnnotationAssertion( "HP:0011056") AnnotationAssertion(rdfs:label "Agenesis of first permanent molar tooth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115188,9 +115181,9 @@ AnnotationAssertion(Annotation( ) "Failure of development of second permanent molar") AnnotationAssertion(Annotation( ) "Failure of development of twelve year molar") AnnotationAssertion(Annotation( ) "Absence of second permanent molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of twelve year molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of twelve year molar") AnnotationAssertion(Annotation( ) "Missing second permanent molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing twelve year molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing twelve year molar") AnnotationAssertion( "HP:0011057") AnnotationAssertion(rdfs:label "Agenesis of second permanent molar") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115203,7 +115196,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-10T12:23:22Z") AnnotationAssertion(Annotation( ) "Generalised gum disease") AnnotationAssertion(Annotation( ) "Generalized gum disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Widespread gum disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Widespread gum disease") AnnotationAssertion( "UMLS:C4023560") AnnotationAssertion( "UMLS:C4280345") AnnotationAssertion(Annotation( ) "Generalised periodontal disease") @@ -115218,9 +115211,9 @@ SubClassOf( ) "A localized form of periodontitis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-10T12:26:35Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Limited area of gum disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Limited area of gum disease") AnnotationAssertion(Annotation( ) "Localised gum disease") -AnnotationAssertion(Annotation( ) Annotation( ) "Localized gum disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Localized gum disease") AnnotationAssertion( "UMLS:C4023559") AnnotationAssertion( "UMLS:C4280344") AnnotationAssertion(Annotation( ) "Localised periodontal disease") @@ -115251,8 +115244,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T01:44:04Z") AnnotationAssertion( "UMLS:C4023557") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth part") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth structure") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth part") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth structure") AnnotationAssertion( "HP:0011061") AnnotationAssertion(rdfs:label "Abnormality of dental structure") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115263,14 +115256,14 @@ SubClassOf( ) "Misaligned incisor.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-10T01:57:43Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of position of incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Malposition of incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of position of incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Malposition of incisors") AnnotationAssertion( "UMLS:C4023556") AnnotationAssertion( "UMLS:C4280343") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of alignment of incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked front teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked incisors") -AnnotationAssertion(Annotation( ) "Misalignment of incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of alignment of incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked incisors") +AnnotationAssertion(Annotation( ) "Misalignment of incisors") AnnotationAssertion( "HP:0011062") AnnotationAssertion(rdfs:label "Misalignment of incisors") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115284,7 +115277,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-10T02:06:54Z") AnnotationAssertion( "UMLS:C4023555") AnnotationAssertion( "Abnormality of incisor morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of incisor") AnnotationAssertion( "HP:0011063") AnnotationAssertion(rdfs:label "Abnormal incisor morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115297,8 +115290,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T02:09:16Z") AnnotationAssertion( "UMLS:C4023554") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal number of front teeth") -AnnotationAssertion(Annotation( ) "Abnormal number of incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal number of front teeth") +AnnotationAssertion(Annotation( ) "Abnormal number of incisors") AnnotationAssertion( "HP:0011064") AnnotationAssertion(rdfs:label "Abnormal number of incisors") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115317,13 +115310,13 @@ AnnotationAssertion( "UMLS:C4020759") AnnotationAssertion( "UMLS:C4280341") AnnotationAssertion( "UMLS:C4280342") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped front tooth") AnnotationAssertion( "Conoid incisor") AnnotationAssertion( "Peg shaped incisors") AnnotationAssertion( "Peg-shaped incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Shark tooth incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped front tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Shark tooth incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed front tooth") AnnotationAssertion( "Pointed incisor") AnnotationAssertion( "HP:0011065") AnnotationAssertion(rdfs:comment "Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are.") @@ -115337,7 +115330,7 @@ SubClassOf( ) Annotation( "PMID:18262485") Annotation( "PMID:31468724") "A supernumerary tooth in the midline between the maxillary central incisors.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-10T02:38:59Z") -AnnotationAssertion(Annotation( ) "Extra tooth") +AnnotationAssertion(Annotation( ) "Extra tooth") AnnotationAssertion(Annotation( ) "Extra tooth in the midline") AnnotationAssertion( "MSH:D014096") AnnotationAssertion( "SNOMEDCT_US:17802000") @@ -115382,17 +115375,17 @@ AnnotationAssertion( "SNOMEDCT_US:367534004") AnnotationAssertion( "SNOMEDCT_US:8666004") AnnotationAssertion( "UMLS:C0040457") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra teeth") AnnotationAssertion(Annotation( ) "Hyperdontia") -AnnotationAssertion(Annotation( ) "Increased number of teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased tooth count") +AnnotationAssertion(Annotation( ) "Increased number of teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased tooth count") AnnotationAssertion( "Supernumerary teeth") AnnotationAssertion(Annotation( ) "Supplemental dentition") -AnnotationAssertion(Annotation( ) Annotation( ) "Supplemental teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Supplemental teeth") AnnotationAssertion( "Tooth, supernumerary") AnnotationAssertion(Annotation( ) "Supernumary dentition") AnnotationAssertion(Annotation( ) "Supernumary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "More teeth than normal") +AnnotationAssertion(Annotation( ) Annotation( ) "More teeth than normal") AnnotationAssertion( "HP:0011069") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens.") @@ -115406,7 +115399,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T03:45:51Z") AnnotationAssertion( "UMLS:C4023553") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of molar tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of molar tooth") AnnotationAssertion( "Abnormality of molar morphology") AnnotationAssertion( "HP:0011070") AnnotationAssertion(rdfs:label "Abnormal molar morphology") @@ -115420,8 +115413,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T03:48:43Z") AnnotationAssertion( "UMLS:C4023552") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of adult molar") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of permanent molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of adult molar") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of permanent molar") AnnotationAssertion( "HP:0011071") AnnotationAssertion(rdfs:label "Abnormality of permanent molar morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115435,12 +115428,12 @@ AnnotationAssertion( "SNOMEDCT_US:109493006") AnnotationAssertion( "UMLS:C0399379") AnnotationAssertion( "UMLS:C4082200") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of tooth root") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of tooth root") AnnotationAssertion(Annotation( ) "Agenesis of tooth root") AnnotationAssertion(Annotation( ) "Aplasia of tooth root") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing tooth root") -AnnotationAssertion(Annotation( ) "Rootless teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Teeth without roots") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing tooth root") +AnnotationAssertion(Annotation( ) "Rootless teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Teeth without roots") AnnotationAssertion(Annotation( ) "Tooth with dentin dysplasia type i") AnnotationAssertion( "HP:0011072") AnnotationAssertion(rdfs:label "Rootless teeth") @@ -115453,12 +115446,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T05:20:03Z") AnnotationAssertion( "UMLS:C4023551") -AnnotationAssertion(Annotation( ) "Abnormality of dental color") +AnnotationAssertion(Annotation( ) "Abnormality of dental color") AnnotationAssertion(Annotation( ) "Abnormality of dental colour") AnnotationAssertion(Annotation( ) "Abnormality of dental shade") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth color") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth color") AnnotationAssertion(Annotation( ) "Abnormality of tooth colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth shade") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of tooth shade") AnnotationAssertion( "HP:0011073") AnnotationAssertion(rdfs:label "Abnormality of dental color") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115487,9 +115480,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T05:23:18Z") AnnotationAssertion( "UMLS:C4023549") -AnnotationAssertion(Annotation( ) Annotation( ) "Green colored teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Green colored teeth") AnnotationAssertion(Annotation( ) "Green coloured teeth") -AnnotationAssertion(Annotation( ) "Green teeth") +AnnotationAssertion(Annotation( ) "Green teeth") AnnotationAssertion(Annotation( ) "Green tooth shade") AnnotationAssertion( "HP:0011075") AnnotationAssertion(rdfs:comment "Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis.") @@ -115504,7 +115497,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-11T09:56:17Z") AnnotationAssertion( "UMLS:C4023548") AnnotationAssertion(Annotation( ) "Abnormality of bicuspid") -AnnotationAssertion(Annotation( ) "Abnormality of premolar") +AnnotationAssertion(Annotation( ) "Abnormality of premolar") AnnotationAssertion( "HP:0011076") AnnotationAssertion(rdfs:label "Abnormality of premolar") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115516,7 +115509,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-11T09:57:49Z") AnnotationAssertion( "UMLS:C4023547") -AnnotationAssertion(Annotation( ) "Abnormality of molar") +AnnotationAssertion(Annotation( ) "Abnormality of molar") AnnotationAssertion( "HP:0011077") AnnotationAssertion(rdfs:label "Abnormality of molar") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115528,8 +115521,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-11T09:58:41Z") AnnotationAssertion( "UMLS:C4023546") -AnnotationAssertion(Annotation( ) "Abnormality of canine") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eye tooth") +AnnotationAssertion(Annotation( ) "Abnormality of canine") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eye tooth") AnnotationAssertion( "HP:0011078") AnnotationAssertion(rdfs:label "Abnormality of canine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115540,13 +115533,13 @@ SubClassOf( ) "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T10:18:55Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Buried tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Buried tooth") AnnotationAssertion( "MSH:D014095") AnnotationAssertion( "SNOMEDCT_US:129263008") AnnotationAssertion( "SNOMEDCT_US:235104008") AnnotationAssertion( "UMLS:C0040456") AnnotationAssertion( "UMLS:C4280338") -AnnotationAssertion(Annotation( ) "Impacted tooth") +AnnotationAssertion(Annotation( ) "Impacted tooth") AnnotationAssertion( "Retained tooth") AnnotationAssertion( "HP:0011079") AnnotationAssertion( ) @@ -115562,7 +115555,7 @@ AnnotationAssertion( ) "Abnormality of bicuspid morphology") AnnotationAssertion( "Abnormality of premolar morphology") AnnotationAssertion(Annotation( ) "Abnormality of shape of bicuspid") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of shape of premolar") AnnotationAssertion( "HP:0011080") AnnotationAssertion(rdfs:label "Abnormal premolar morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115576,11 +115569,11 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-11T10:39:44Z") AnnotationAssertion(Annotation( ) "Hyperplasia of incisor") AnnotationAssertion(Annotation( ) "Hypertrophy of incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Large incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Large incisor") AnnotationAssertion( "UMLS:C4023544") AnnotationAssertion( "UMLS:C4280337") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of incisor") AnnotationAssertion( "HP:0011081") AnnotationAssertion(rdfs:label "Incisor macrodontia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115593,14 +115586,14 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-11T11:06:57Z") AnnotationAssertion( "UMLS:C4023543") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped front baby tooth") AnnotationAssertion(Annotation( ) "Conical deciduous incisor") AnnotationAssertion(Annotation( ) "Conoid primary incisor") AnnotationAssertion(Annotation( ) "Primary front shark tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped front baby tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped primary incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed front baby tooth") -AnnotationAssertion(Annotation( ) "Pointed primary incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped primary incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed front baby tooth") +AnnotationAssertion(Annotation( ) "Pointed primary incisor") AnnotationAssertion( "HP:0011082") AnnotationAssertion(rdfs:label "Conical primary incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115613,12 +115606,12 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-11T11:36:11Z") AnnotationAssertion( "UMLS:C4023542") AnnotationAssertion(Annotation( ) "Cone shaped maxillary incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone shaped upper front tooth") AnnotationAssertion(Annotation( ) "Conoid maxillary incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Upper front shark tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Upper front shark tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Peg shaped upper front tooth") AnnotationAssertion(Annotation( ) "Pointed maxillary incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed upper front tooth") AnnotationAssertion( "HP:0011083") AnnotationAssertion(rdfs:label "Conical maxillary incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115630,8 +115623,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-11T12:08:46Z") AnnotationAssertion( "UMLS:C4023541") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased enamel calcification") -AnnotationAssertion(Annotation( ) Annotation( ) "Poorly calcified tooth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased enamel calcification") +AnnotationAssertion(Annotation( ) Annotation( ) "Poorly calcified tooth enamel") AnnotationAssertion( "HP:0011084") AnnotationAssertion(rdfs:label "Hypocalcification of dental enamel") SubClassOf( ) @@ -115645,8 +115638,8 @@ AnnotationAssertion( "UMLS:C4280266") AnnotationAssertion( "UMLS:C4280336") AnnotationAssertion(Annotation( ) "Immature tooth enamel") -AnnotationAssertion(Annotation( ) Annotation( ) "Soft teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Soft tooth enamel") +AnnotationAssertion(Annotation( ) Annotation( ) "Soft teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Soft tooth enamel") AnnotationAssertion( "HP:0011085") AnnotationAssertion(rdfs:comment "Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin.") AnnotationAssertion(rdfs:label "Hypomature dental enamel") @@ -115670,7 +115663,7 @@ SubClassOf( ) "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T02:00:28Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra cusp on inside of front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra cusp on inside of front tooth") AnnotationAssertion( "SNOMEDCT_US:234955005") AnnotationAssertion( "SNOMEDCT_US:63691004") AnnotationAssertion( "UMLS:C0266034") @@ -115692,7 +115685,7 @@ AnnotationAssertion( "SNOMEDCT_US:55197001") AnnotationAssertion( "UMLS:C0011320") AnnotationAssertion(Annotation( ) "Dens invaginatus") -AnnotationAssertion(Annotation( ) Annotation( ) "Tooth within a tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Tooth within a tooth") AnnotationAssertion( "HP:0011088") AnnotationAssertion(rdfs:comment "Dens in dente is Latin for tooth inside of tooth. Dens in dente results from an invagination of the enamel organ into the dental papilla, extending into the root before initiation of mineralization. The permanent maxillary lateral incisors are the most frequently involved teeth, but it can occur in any tooth type. It occurs more frequently in the permanent dentition and in maxillary teeth. The diagnosis dens in dente needs to be confirmed by X-rays.") AnnotationAssertion(rdfs:label "Dens in dente") @@ -115706,8 +115699,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D005671") AnnotationAssertion( "SNOMEDCT_US:1744008") AnnotationAssertion( "UMLS:C0016873") -AnnotationAssertion(Annotation( ) Annotation( ) "Conjoined teeth") -AnnotationAssertion(Annotation( ) "Double tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Conjoined teeth") +AnnotationAssertion(Annotation( ) "Double tooth") AnnotationAssertion( "Teeth, double") AnnotationAssertion( "Twinning tooth") AnnotationAssertion( "HP:0011089") @@ -115723,9 +115716,9 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D005671") AnnotationAssertion( "SNOMEDCT_US:1744008") AnnotationAssertion( "UMLS:C0016873") -AnnotationAssertion(Annotation( ) "Fused teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of teeth") -AnnotationAssertion(Annotation( ) "Joined teeth") +AnnotationAssertion(Annotation( ) "Fused teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of teeth") +AnnotationAssertion(Annotation( ) "Joined teeth") AnnotationAssertion( "HP:0011090") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Fused teeth") @@ -115739,7 +115732,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:40273006") AnnotationAssertion( "UMLS:C0266033") AnnotationAssertion(Annotation( ) "Gemination of tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Splitting of crown of tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Splitting of crown of tooth") AnnotationAssertion( "HP:0011091") AnnotationAssertion(rdfs:comment "If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal.") AnnotationAssertion(rdfs:label "Gemination") @@ -115766,10 +115759,10 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C1404304") AnnotationAssertion( "UMLS:C4280334") AnnotationAssertion(Annotation( ) "Molar shape of bicuspid") -AnnotationAssertion(Annotation( ) Annotation( ) "Molar shape of premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Molar shape of premolar") AnnotationAssertion(Annotation( ) "Molarization of bicuspid") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged premolar") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged premolar") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of premolar") AnnotationAssertion( "HP:0011093") AnnotationAssertion(rdfs:label "Molarization of premolar") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -115789,11 +115782,11 @@ AnnotationAssertion( "UMLS:C0266067") AnnotationAssertion( "UMLS:C1305740") AnnotationAssertion(Annotation( ) "Increased overlap of upper and lower incisors") -AnnotationAssertion(Annotation( ) "Overbite") +AnnotationAssertion(Annotation( ) "Overbite") AnnotationAssertion( "Supraocclusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep bite") -AnnotationAssertion(Annotation( ) Annotation( ) "Deep overbite") -AnnotationAssertion(Annotation( ) Annotation( ) "Scissors bite") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep bite") +AnnotationAssertion(Annotation( ) Annotation( ) "Deep overbite") +AnnotationAssertion(Annotation( ) Annotation( ) "Scissors bite") AnnotationAssertion( "HP:0011094") AnnotationAssertion(rdfs:label "Increased overbite") SubClassOf( ) @@ -115808,10 +115801,10 @@ AnnotationAssertion( "SNOMEDCT_US:70305005") AnnotationAssertion( "UMLS:C0596028") AnnotationAssertion(Annotation( ) "Abnormality of horizontal incisor relationship") -AnnotationAssertion(Annotation( ) Annotation( ) "Protrusion of upper teeth in front of lower teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Buck teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Protrusion of upper teeth in front of lower teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Buck teeth") AnnotationAssertion(Annotation( ) "Protrusion of the maxillary incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Upper teeth sticking out forward") +AnnotationAssertion(Annotation( ) Annotation( ) "Upper teeth sticking out forward") AnnotationAssertion( "HP:0011095") AnnotationAssertion(rdfs:label "Overjet") SubClassOf( ) @@ -115943,7 +115936,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-07T11:17:32Z") AnnotationAssertion( "SNOMEDCT_US:21639008") AnnotationAssertion( "UMLS:C0546817") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/hypervolemia") Annotation( ) "Fluid overload in blood") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/hypervolemia") Annotation( ) "Fluid overload in blood") AnnotationAssertion( "HP:0011105") AnnotationAssertion(rdfs:label "Hypervolemia") SubClassOf( ) @@ -115956,7 +115949,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D020896") AnnotationAssertion( "SNOMEDCT_US:28560003") AnnotationAssertion( "UMLS:C0546884") -AnnotationAssertion(Annotation( ) Annotation( ) "Depleted blood volume") +AnnotationAssertion(Annotation( ) Annotation( ) "Depleted blood volume") AnnotationAssertion( "HP:0011106") AnnotationAssertion(rdfs:label "Hypovolemia") SubClassOf( ) @@ -115973,7 +115966,7 @@ AnnotationAssertion( "SNOMEDCT_US:427617000") AnnotationAssertion( "UMLS:C0038363") AnnotationAssertion( "UMLS:C2937365") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent canker sores") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent canker sores") AnnotationAssertion( "Recurrent oral aphthae") AnnotationAssertion( "Aphthous stomatitis") AnnotationAssertion( "Buccal aphthous ulcers") @@ -115993,7 +115986,7 @@ AnnotationAssertion( "UMLS:C0581354") AnnotationAssertion( "UMLS:C4280333") AnnotationAssertion(Annotation( ) "Sinusitis, recurrent") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent sinus disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent sinus disease") AnnotationAssertion( "HP:0011108") AnnotationAssertion(rdfs:comment "Recurring inflammation of the paranasal sinuses.") AnnotationAssertion(rdfs:label "Recurrent sinusitis") @@ -116008,7 +116001,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:40055000") AnnotationAssertion( "UMLS:C0149516") AnnotationAssertion( "UMLS:C0748720") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic sinus disease") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic sinus disease") AnnotationAssertion(Annotation( ) "Sinusitis, chronic") AnnotationAssertion( "HP:0011109") AnnotationAssertion(rdfs:label "Chronic sinusitis") @@ -116022,7 +116015,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D014069") AnnotationAssertion( "SNOMEDCT_US:90176007") AnnotationAssertion( "UMLS:C0040425") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent inflammation of tonsils") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent inflammation of tonsils") AnnotationAssertion( "HP:0011110") AnnotationAssertion(rdfs:label "Recurrent tonsillitis") EquivalentClasses(Annotation(dcterms:creator ) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -116127,18 +116120,18 @@ AnnotationAssertion( "UMLS:C4280332") AnnotationAssertion(Annotation( ) "Abnormality of the dorsum of nose") AnnotationAssertion( "Abnormality of the nasal dorsum") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the nasal ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the nasal ridge") AnnotationAssertion( "Anomaly of the nasal ridge") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal morphology of dorsum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked dorsum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal dorsum") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked dorsum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal dorsum") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal ridge") AnnotationAssertion(Annotation( ) "Deformity of the dorsum of the nose") AnnotationAssertion(Annotation( ) "Deformity of the nasal dorsum") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal ridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the dorsum of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal dorsum") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the nasal ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the dorsum of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal dorsum") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of the nasal ridge") AnnotationAssertion( "HP:0011119") AnnotationAssertion(rdfs:comment "The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip.") AnnotationAssertion(rdfs:label "Abnormal nasal dorsum morphology") @@ -116152,14 +116145,14 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-12T09:39:55Z") AnnotationAssertion( "SNOMEDCT_US:710234009") AnnotationAssertion( "UMLS:C0264169") -AnnotationAssertion(Annotation( ) Annotation( ) "Boxer's nasal deformity") -AnnotationAssertion(Annotation( ) Annotation( ) "Boxer's nose deformity") +AnnotationAssertion(Annotation( ) Annotation( ) "Boxer's nasal deformity") +AnnotationAssertion(Annotation( ) Annotation( ) "Boxer's nose deformity") AnnotationAssertion(Annotation( ) "Concave dorsum of nose") AnnotationAssertion(Annotation( ) "Concave nasal dorsum") -AnnotationAssertion(Annotation( ) "Saddle nose") +AnnotationAssertion(Annotation( ) "Saddle nose") AnnotationAssertion(Annotation( ) "Saddle shaped nasal dorsum") -AnnotationAssertion(Annotation( ) "Ski jump nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Saddle nose deformity") +AnnotationAssertion(Annotation( ) "Ski jump nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Saddle nose deformity") AnnotationAssertion( "HP:0011120") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum.") @@ -116174,7 +116167,7 @@ AnnotationAssertion( AnnotationAssertion( "Fyler:4133") AnnotationAssertion( "UMLS:C4023528") AnnotationAssertion(Annotation( ) "Abnormal skin morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin structure") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin structure") AnnotationAssertion( "HP:0011121") AnnotationAssertion(rdfs:label "Abnormality of skin morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -116186,7 +116179,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-12T10:05:14Z") AnnotationAssertion( "UMLS:C4023527") -AnnotationAssertion(Annotation( ) "Abnormality of skin physiology") +AnnotationAssertion(Annotation( ) "Abnormality of skin physiology") AnnotationAssertion( "HP:0011122") AnnotationAssertion(rdfs:label "Abnormality of skin physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -116205,8 +116198,8 @@ AnnotationAssertion( "UMLS:C0011603") AnnotationAssertion( "UMLS:C3875321") AnnotationAssertion( "Abnormal tendency to infections of the skin") -AnnotationAssertion(Annotation( ) "Inflammatory abnormality of the skin") -AnnotationAssertion(Annotation( ) "Skin inflammation") +AnnotationAssertion(Annotation( ) "Inflammatory abnormality of the skin") +AnnotationAssertion(Annotation( ) "Skin inflammation") AnnotationAssertion( "Dermatitis") AnnotationAssertion( "Inflammatory skin disease") AnnotationAssertion( "HP:0011123") @@ -116243,7 +116236,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-16T07:34:25Z") AnnotationAssertion( "UMLS:C1384594") -AnnotationAssertion(Annotation( ) Annotation( ) "Floating kidney") +AnnotationAssertion(Annotation( ) Annotation( ) "Floating kidney") AnnotationAssertion(Annotation( ) "Renal ptosis") AnnotationAssertion( "HP:0011126") AnnotationAssertion(rdfs:comment "Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery.") @@ -116256,7 +116249,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-16T07:41:19Z") AnnotationAssertion( "UMLS:C1396126") -AnnotationAssertion(Annotation( ) Annotation( ) "Eczema around the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Eczema around the mouth") AnnotationAssertion( "HP:0011127") AnnotationAssertion(rdfs:comment "Perioral eczema mainly affects children.") AnnotationAssertion(rdfs:label "Perioral eczema") @@ -116304,7 +116297,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-19T12:16:41Z") AnnotationAssertion( "UMLS:C0240705") -AnnotationAssertion(Annotation( ) "Perianal rash") +AnnotationAssertion(Annotation( ) "Perianal rash") AnnotationAssertion( "HP:0011131") AnnotationAssertion(rdfs:label "Perianal dermatitis") SubClassOf( ) @@ -116339,8 +116332,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-19T12:19:44Z") AnnotationAssertion( "SNOMEDCT_US:304213008") AnnotationAssertion( "UMLS:C0239574") -AnnotationAssertion(Annotation( ) "Low-grade fever") -AnnotationAssertion(Annotation( ) Annotation( ) "Mild fever") +AnnotationAssertion(Annotation( ) "Low-grade fever") +AnnotationAssertion(Annotation( ) Annotation( ) "Mild fever") AnnotationAssertion( "HP:0011134") AnnotationAssertion(rdfs:label "Low-grade fever") SubClassOf( ) @@ -116351,8 +116344,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-19T02:01:50Z") AnnotationAssertion( "UMLS:C4023520") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small sweat glands") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped sweat glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small sweat glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped sweat glands") AnnotationAssertion( "HP:0011135") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the sweat glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -116364,8 +116357,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-19T02:06:44Z") AnnotationAssertion( "UMLS:C2677485") -AnnotationAssertion(Annotation( ) "Absent sweat glands") -AnnotationAssertion(Annotation( ) "Lack of sweat glands") +AnnotationAssertion(Annotation( ) "Absent sweat glands") +AnnotationAssertion(Annotation( ) "Lack of sweat glands") AnnotationAssertion( "HP:0011136") AnnotationAssertion(rdfs:label "Aplasia of the sweat glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -116377,7 +116370,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-19T02:17:55Z") AnnotationAssertion( "UMLS:C4023519") -AnnotationAssertion(Annotation( ) Annotation( ) "Non-itchy hives") +AnnotationAssertion(Annotation( ) Annotation( ) "Non-itchy hives") AnnotationAssertion( "HP:0011137") AnnotationAssertion(rdfs:comment "Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus.") AnnotationAssertion(rdfs:label "Non-pruritic urticaria") @@ -116389,7 +116382,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-19T06:25:34Z") AnnotationAssertion( "UMLS:C4023518") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin appendage") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skin appendage") AnnotationAssertion( "HP:0011138") AnnotationAssertion(rdfs:label "Abnormality of skin adnexa morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -116429,7 +116422,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-27T09:41:38Z") AnnotationAssertion( "SNOMEDCT_US:39450006") AnnotationAssertion( "UMLS:C0036646") -AnnotationAssertion(Annotation( ) Annotation( ) "Clouding of the lens of the eye with age") +AnnotationAssertion(Annotation( ) Annotation( ) "Clouding of the lens of the eye with age") AnnotationAssertion( "HP:0011141") AnnotationAssertion(rdfs:comment "The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker.") AnnotationAssertion(rdfs:label "Age-related cataract") @@ -116683,7 +116676,7 @@ AnnotationAssertion( "Gustatory aura") AnnotationAssertion(Annotation( ) "Gustatory auras") AnnotationAssertion( "Partial gustatory seizure") -AnnotationAssertion(Annotation( ) Annotation( "http://medical-dictionary.thefreedictionary.com/gustatory+aura") Annotation( ) "Taste hallucinations") +AnnotationAssertion(Annotation( ) Annotation( "http://medical-dictionary.thefreedictionary.com/gustatory+aura") Annotation( ) "Taste hallucinations") AnnotationAssertion( "HP:0011160") AnnotationAssertion(rdfs:comment "These seizures involve the parietal operculum and the insula.") AnnotationAssertion(rdfs:label "Focal sensory seizure with gustatory features") @@ -117353,12 +117346,12 @@ SubClassOf( ) "An abnormal shape of occiput.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-12-03T10:14:06Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of posterior head") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the back of the head") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of posterior head") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the back of the head") AnnotationAssertion( "UMLS:C4023459") AnnotationAssertion(Annotation( ) "Abnormal shape of posterior cranium") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of posterior skull") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the back of the skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of posterior skull") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the back of the skull") AnnotationAssertion( "HP:0011217") AnnotationAssertion(rdfs:label "Abnormal shape of the occiput") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -117371,7 +117364,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-03T10:26:03Z") AnnotationAssertion( "UMLS:C4023458") AnnotationAssertion(Annotation( ) "Abnormal morphology of the frontal region") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the forehead") AnnotationAssertion(Annotation( ) "Dysmorphic forehead") AnnotationAssertion(Annotation( ) "Dysmorphic frontal region") AnnotationAssertion( "HP:0011218") @@ -117385,17 +117378,17 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-07T09:01:18Z") AnnotationAssertion( "UMLS:C4023457") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased height of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased height of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of face") AnnotationAssertion(Annotation( ) "Decreased vertical dimension of face") -AnnotationAssertion(Annotation( ) "Short face") +AnnotationAssertion(Annotation( ) "Short face") AnnotationAssertion(Annotation( ) "Short facies") AnnotationAssertion(Annotation( ) "Vertical Facial Deficiency") AnnotationAssertion(Annotation( ) "Vertical deficiency of face") AnnotationAssertion(Annotation( ) "Vertical facial insufficiency") AnnotationAssertion(Annotation( ) "Vertical hypoplasia of face") AnnotationAssertion(Annotation( ) "Vertical insufficiency of face") -AnnotationAssertion(Annotation( ) Annotation( ) "Vertical shortening of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Vertical shortening of face") AnnotationAssertion( "HP:0011219") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face.") @@ -117412,10 +117405,10 @@ AnnotationAssertion( "UMLS:C1837260") AnnotationAssertion( "UMLS:C1867446") AnnotationAssertion(Annotation( ) "Prominence of frontal region") -AnnotationAssertion(Annotation( ) "Prominent forehead") -AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced forehead") -AnnotationAssertion(Annotation( ) "Protruding forehead") -AnnotationAssertion(Annotation( ) "Bulging forehead") +AnnotationAssertion(Annotation( ) "Prominent forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced forehead") +AnnotationAssertion(Annotation( ) "Protruding forehead") +AnnotationAssertion(Annotation( ) "Bulging forehead") AnnotationAssertion( "HP:0011220") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Not to be confused with frontal bossing.") @@ -117428,10 +117421,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-07T09:55:15Z") AnnotationAssertion( "UMLS:C4023456") -AnnotationAssertion(Annotation( ) Annotation( ) "Frontal creases of face") -AnnotationAssertion(Annotation( ) "Vertical forehead creases") +AnnotationAssertion(Annotation( ) Annotation( ) "Frontal creases of face") +AnnotationAssertion(Annotation( ) "Vertical forehead creases") AnnotationAssertion( "Vertical forehead rhytids") -AnnotationAssertion(Annotation( ) "Vertical forehead wrinkles") +AnnotationAssertion(Annotation( ) "Vertical forehead wrinkles") AnnotationAssertion( "HP:0011221") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Vertical forehead creases") @@ -117445,8 +117438,8 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4023455") AnnotationAssertion( "Concave glabella") AnnotationAssertion( "Deficiency of glabella") -AnnotationAssertion(Annotation( ) Annotation( ) "Deficient area between the eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Deficient area between the eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat area between the eyebrows") AnnotationAssertion( "Flat glabella") AnnotationAssertion( "Hypoplasia of glabella") AnnotationAssertion( "HP:0011222") @@ -117460,7 +117453,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-07T10:34:38Z") AnnotationAssertion( "UMLS:C4023454") -AnnotationAssertion(Annotation( ) Annotation( ) "Depression of frontal cranial suture") +AnnotationAssertion(Annotation( ) Annotation( ) "Depression of frontal cranial suture") AnnotationAssertion(Annotation( ) "Depression of metopic cranial suture") AnnotationAssertion(Annotation( ) "Frontal suture depression") AnnotationAssertion( "HP:0011223") @@ -117479,9 +117472,9 @@ AnnotationAssertion( "UMLS:C0266574") AnnotationAssertion( "UMLS:C4020757") AnnotationAssertion( "Ablepharon of eyelid") -AnnotationAssertion(Annotation( ) "Absent eyelids") +AnnotationAssertion(Annotation( ) "Absent eyelids") AnnotationAssertion(Annotation( ) "Agenesis of eyelids") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyelids") AnnotationAssertion( "Aplasia of the eyelids") AnnotationAssertion( "HP:0011224") AnnotationAssertion( ) @@ -117509,7 +117502,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-13T08:38:23Z") AnnotationAssertion( "UMLS:C4023453") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of eyelid") AnnotationAssertion(Annotation( ) "Hypotrophic eyelid") AnnotationAssertion( "HP:0011226") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the eyelid") @@ -117536,13 +117529,13 @@ SubClassOf( "PMID:19125427") "An eyebrow that extends straight across the brow, without curve.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-12-14T08:18:29Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of eyebrow arch") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of eyebrow curvature") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of eyebrow arch") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of eyebrow curvature") AnnotationAssertion( "UMLS:C3277019") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat eyebrow") -AnnotationAssertion(Annotation( ) "Horizontal eyebrow") -AnnotationAssertion(Annotation( ) "Straight eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Straight eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat eyebrow") +AnnotationAssertion(Annotation( ) "Horizontal eyebrow") +AnnotationAssertion(Annotation( ) "Straight eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Straight eyebrows") AnnotationAssertion( "HP:0011228") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Horizontal eyebrow") @@ -117554,13 +117547,13 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-14T08:21:26Z") AnnotationAssertion( "UMLS:C1856121") -AnnotationAssertion(Annotation( ) "Broad eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad eyebrows") -AnnotationAssertion(Annotation( ) "Flared eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical height of eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical thickness of eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Flared eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical width of eyebrow") +AnnotationAssertion(Annotation( ) "Broad eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad eyebrows") +AnnotationAssertion(Annotation( ) "Flared eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical height of eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical thickness of eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Flared eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical width of eyebrow") AnnotationAssertion( "HP:0011229") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs.") @@ -117576,7 +117569,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4023451") AnnotationAssertion(Annotation( ) "Increased lateral length of eyebrow") AnnotationAssertion(Annotation( ) "Laterally elongated eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Laterally extended eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Laterally extended eyebrows") AnnotationAssertion( "HP:0011230") AnnotationAssertion(rdfs:comment "The degree of extension beyond the obital rim that is considered abnormal has not been established.") AnnotationAssertion(rdfs:label "Laterally extended eyebrow") @@ -117589,8 +117582,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-14T08:31:24Z") AnnotationAssertion( "UMLS:C1835802") AnnotationAssertion( "UMLS:C4023450") -AnnotationAssertion(Annotation( ) "Prominent eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick eyelashes") +AnnotationAssertion(Annotation( ) "Prominent eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick eyelashes") AnnotationAssertion( "HP:0011231") AnnotationAssertion(rdfs:label "Prominent eyelashes") SubClassOf( ) @@ -117845,8 +117838,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-18T02:12:10Z") AnnotationAssertion( "SNOMEDCT_US:429967001") AnnotationAssertion( "UMLS:C2315717") -AnnotationAssertion(Annotation( ) Annotation( ) "Buried ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Hidden ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Buried ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Hidden ear") AnnotationAssertion( "HP:0011252") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected.") @@ -117971,8 +117964,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-18T06:50:34Z") AnnotationAssertion( "UMLS:C4021177") -AnnotationAssertion(Annotation( ) "Forward facing earlobe") -AnnotationAssertion(Annotation( ) "Lobe, forward facing") +AnnotationAssertion(Annotation( ) "Forward facing earlobe") +AnnotationAssertion(Annotation( ) "Lobe, forward facing") AnnotationAssertion( "HP:0011263") AnnotationAssertion(rdfs:comment "The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe.") AnnotationAssertion(rdfs:label "Forward facing earlobe") @@ -117995,7 +117988,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-18T07:39:52Z") AnnotationAssertion( "UMLS:C4023440") -AnnotationAssertion(Annotation( ) "Cleft earlobe") +AnnotationAssertion(Annotation( ) "Cleft earlobe") AnnotationAssertion( "HP:0011265") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished.") @@ -118020,7 +118013,7 @@ SubClassOf( "PMID:19152421") "Presence of some auricular structures, but none of these structures conform to recognized ear components.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-12-18T07:49:49Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape/structure of ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape/structure of ear") AnnotationAssertion( "UMLS:C4021174") AnnotationAssertion( "UMLS:C4280331") AnnotationAssertion( "Third-degree microtia") @@ -118048,7 +118041,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-18T07:56:56Z") AnnotationAssertion( "UMLS:C4021173") -AnnotationAssertion(Annotation( ) "Notched tragus") +AnnotationAssertion(Annotation( ) "Notched tragus") AnnotationAssertion( "Tragus, bifid") AnnotationAssertion( "HP:0011269") AnnotationAssertion(rdfs:label "Bifid tragus") @@ -118107,7 +118100,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:165475005") AnnotationAssertion( "SNOMEDCT_US:57241006") AnnotationAssertion( "UMLS:C0221278") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/anisocytosis") Annotation( ) "Unequal size of red blood cells") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/anisocytosis") Annotation( ) "Unequal size of red blood cells") AnnotationAssertion( "HP:0011273") AnnotationAssertion(rdfs:label "Anisocytosis") SubClassOf( ) @@ -118213,7 +118206,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-01-01T01:22:36Z") AnnotationAssertion( "UMLS:C4021170") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of hindbrain") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of hindbrain") AnnotationAssertion( "Abnormality of hindbrain morphology") AnnotationAssertion( "Abnormality of the hindbrain") AnnotationAssertion( "HP:0011282") @@ -118384,7 +118377,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-11T07:16:22Z") AnnotationAssertion( "UMLS:C3550704") AnnotationAssertion( "Abnormality of digit") -AnnotationAssertion(Annotation( ) "Abnormality of fingers or toes") +AnnotationAssertion(Annotation( ) "Abnormality of fingers or toes") AnnotationAssertion( "Digital anomalies") AnnotationAssertion( "HP:0011297") AnnotationAssertion( ) @@ -118398,7 +118391,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-11T07:18:29Z") AnnotationAssertion( "UMLS:C4023424") -AnnotationAssertion(Annotation( ) "Prominent digit pad") +AnnotationAssertion(Annotation( ) "Prominent digit pad") AnnotationAssertion( "HP:0011298") AnnotationAssertion(rdfs:comment "The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym \"fetal fingertip pads\" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term \"Persistent fetal pads\" as this term implies knowledge of the natural history of this finding, which may or may not be known.") AnnotationAssertion(rdfs:label "Prominent digit pad") @@ -118410,7 +118403,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-11T10:57:07Z") AnnotationAssertion( "UMLS:C4023423") -AnnotationAssertion(Annotation( ) "Partial absence of finger") +AnnotationAssertion(Annotation( ) "Partial absence of finger") AnnotationAssertion( "HP:0011299") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "The part that is absent may be specified. The \"distal\" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The \"proximal\" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers.") @@ -118423,8 +118416,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-11T11:18:08Z") AnnotationAssertion( "UMLS:C1968816") -AnnotationAssertion(Annotation( ) "Broad fingertip") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad fingertips") +AnnotationAssertion(Annotation( ) "Broad fingertip") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad fingertips") AnnotationAssertion( "HP:0011300") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. The distinction to the term Broad distal phalanx of finger is that this term is a clinical impression while Broad distal phalanx of finger refers to the objectively measured width of the distal phalane (bone), a radiological finding.") @@ -118439,7 +118432,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-11T11:20:59Z") AnnotationAssertion( "SNOMEDCT_US:371197005") AnnotationAssertion( "UMLS:C0265624") -AnnotationAssertion(Annotation( ) "Absent foot") +AnnotationAssertion(Annotation( ) "Absent foot") AnnotationAssertion( "Aplasia of the foot") AnnotationAssertion( "Apodia") AnnotationAssertion( "HP:0011301") @@ -118455,7 +118448,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-12T10:20:56Z") AnnotationAssertion( "HP:0001502") AnnotationAssertion( "UMLS:C4023422") -AnnotationAssertion(Annotation( ) "Long palm") +AnnotationAssertion(Annotation( ) "Long palm") AnnotationAssertion( "HP:0011302") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Long palm") @@ -118485,9 +118478,9 @@ AnnotationAssertion( "SNOMEDCT_US:249773003") AnnotationAssertion( "UMLS:C0426891") AnnotationAssertion( "Broad phalanges of the thumb") -AnnotationAssertion(Annotation( ) "Broad thumb") -AnnotationAssertion(Annotation( ) "Broad thumbs") -AnnotationAssertion(Annotation( ) "Wide/broad thumb") +AnnotationAssertion(Annotation( ) "Broad thumb") +AnnotationAssertion(Annotation( ) "Broad thumbs") +AnnotationAssertion(Annotation( ) "Wide/broad thumb") AnnotationAssertion( "Wide/broad thumb phalanges") AnnotationAssertion( "HP:0011304") AnnotationAssertion( ) @@ -118504,7 +118497,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-12T12:20:32Z") AnnotationAssertion( "UMLS:C4021169") AnnotationAssertion( "Hypophalangy of toes") -AnnotationAssertion(Annotation( ) "Partial absence of toe") +AnnotationAssertion(Annotation( ) "Partial absence of toe") AnnotationAssertion( "HP:0011305") AnnotationAssertion(rdfs:comment "The part that is absent may be specified. The \"distal\" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The \"proximal\" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe.") AnnotationAssertion(rdfs:label "Partial absence of toe") @@ -118516,7 +118509,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-12T12:38:36Z") AnnotationAssertion( "UMLS:C2117390") -AnnotationAssertion(Annotation( ) "Splayed toes") +AnnotationAssertion(Annotation( ) "Splayed toes") AnnotationAssertion( "HP:0011307") AnnotationAssertion(rdfs:label "Splayed toes") SubClassOf( ) @@ -118528,8 +118521,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-12T12:39:51Z") AnnotationAssertion( "HP:0200091") AnnotationAssertion( "UMLS:C4021168") -AnnotationAssertion(Annotation( ) "Narrow toe") -AnnotationAssertion(Annotation( ) "Slender toe") +AnnotationAssertion(Annotation( ) "Narrow toe") +AnnotationAssertion(Annotation( ) "Slender toe") AnnotationAssertion( "HP:0011308") AnnotationAssertion(rdfs:label "Slender toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -118543,8 +118536,8 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008088") AnnotationAssertion( "HP:0200089") AnnotationAssertion( "UMLS:C4021167") -AnnotationAssertion(Annotation( ) "Tapered toe") -AnnotationAssertion(Annotation( ) "Tapering toes") +AnnotationAssertion(Annotation( ) "Tapered toe") +AnnotationAssertion(Annotation( ) "Tapering toes") AnnotationAssertion( "HP:0011309") AnnotationAssertion(rdfs:label "Tapered toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -118556,7 +118549,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-12T12:56:40Z") AnnotationAssertion( "UMLS:C4021166") -AnnotationAssertion(Annotation( ) Annotation( ) "Bridged palm line") +AnnotationAssertion(Annotation( ) Annotation( ) "Bridged palm line") AnnotationAssertion( "Transitional palmar crease") AnnotationAssertion( "HP:0011310") AnnotationAssertion(rdfs:comment "The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation.") @@ -118580,7 +118573,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-12T01:12:22Z") AnnotationAssertion( "UMLS:C4023419") -AnnotationAssertion(Annotation( ) "Fused nails") +AnnotationAssertion(Annotation( ) "Fused nails") AnnotationAssertion( "HP:0011312") AnnotationAssertion(rdfs:comment "The use of the word \"fused\" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately.") AnnotationAssertion(rdfs:label "Fused nails") @@ -118593,7 +118586,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-12T01:33:34Z") AnnotationAssertion( "HP:0200076") AnnotationAssertion( "UMLS:C4021829") -AnnotationAssertion(Annotation( ) "Narrow nail") +AnnotationAssertion(Annotation( ) "Narrow nail") AnnotationAssertion( "HP:0011313") AnnotationAssertion(rdfs:label "Narrow nail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -118608,7 +118601,7 @@ AnnotationAssertion( "HP:0100714") AnnotationAssertion( "HP:0100715") AnnotationAssertion( "UMLS:C4021165") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of long bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of long bone") AnnotationAssertion( "Abnormality of long bone morphology") AnnotationAssertion( "Abnormality of the tubular bones") AnnotationAssertion( "HP:0011314") @@ -118716,7 +118709,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-25T05:17:03Z") AnnotationAssertion( "UMLS:C1849227") -AnnotationAssertion(Annotation( ) "Cleft of chin") +AnnotationAssertion(Annotation( ) "Cleft of chin") AnnotationAssertion(Annotation( ) "Midline defect of chin") AnnotationAssertion( "HP:0011323") AnnotationAssertion(rdfs:label "Cleft of chin") @@ -118757,7 +118750,7 @@ AnnotationAssertion( "UMLS:C4280328") AnnotationAssertion( "UMLS:C4280329") AnnotationAssertion( "UMLS:C4280330") -AnnotationAssertion(Annotation( ) Annotation( ) "Anterior flat head syndrome") +AnnotationAssertion(Annotation( ) Annotation( ) "Anterior flat head syndrome") AnnotationAssertion(Annotation( ) "Deformational frontal plagiocephaly") AnnotationAssertion(Annotation( ) "Frontal plagiocephaly") AnnotationAssertion(Annotation( ) "Deformational anterior plagiocephaly") @@ -118803,7 +118796,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-25T03:33:56Z") AnnotationAssertion( "UMLS:C4023412") -AnnotationAssertion(Annotation( ) "Abnormality of cranial sutures") +AnnotationAssertion(Annotation( ) "Abnormality of cranial sutures") AnnotationAssertion( "Abnormality of the bregma sutures") AnnotationAssertion( "Abnormality of the calvarium sutures") AnnotationAssertion( "Abnormality of the cranial sutures") @@ -118839,7 +118832,7 @@ AnnotationAssertion( "SNOMEDCT_US:718224004") AnnotationAssertion( "SNOMEDCT_US:95834000") AnnotationAssertion( "UMLS:C0015458") -AnnotationAssertion(Annotation( ) Annotation( ) "Atrophy of half of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Atrophy of half of face") AnnotationAssertion(Annotation( ) "Atrophy of one side of the face") AnnotationAssertion(Annotation( ) "Facial hemiatrophy") AnnotationAssertion( "HP:0011331") @@ -118858,8 +118851,8 @@ AnnotationAssertion( "UMLS:C4023411") AnnotationAssertion( "Decrease in size of half of face") AnnotationAssertion( "Decrease in size of one side of the face") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of half of the face") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of one side of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of half of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of one side of the face") AnnotationAssertion( "Shrinking of half of face") AnnotationAssertion( "Shrinking of one side of the face") AnnotationAssertion( "Hemifacial microsomia") @@ -118876,7 +118869,7 @@ AnnotationAssertion( "SNOMEDCT_US:51409009") AnnotationAssertion( "UMLS:C0431406") AnnotationAssertion( "UMLS:C4280327") -AnnotationAssertion(Annotation( ) "Asymmetric crying face") +AnnotationAssertion(Annotation( ) "Asymmetric crying face") AnnotationAssertion(Annotation( ) "Partial unilateral facial paresis") AnnotationAssertion(Annotation( ) "Hypoplasia of depressor angula oris muscle") AnnotationAssertion( "HP:0011333") @@ -118890,8 +118883,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-25T05:10:19Z") AnnotationAssertion( "UMLS:C4021159") AnnotationAssertion( "Facial shape compression") -AnnotationAssertion(Annotation( ) "Facial shape deformation") -AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of facial shape") +AnnotationAssertion(Annotation( ) "Facial shape deformation") +AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of facial shape") AnnotationAssertion( "HP:0011334") AnnotationAssertion(rdfs:label "Facial shape deformation") SubClassOf( ) @@ -118902,7 +118895,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-25T05:21:59Z") AnnotationAssertion( "UMLS:C1839830") -AnnotationAssertion(Annotation( ) "Hairy forehead") +AnnotationAssertion(Annotation( ) "Hairy forehead") AnnotationAssertion( "Hirsute forehead") AnnotationAssertion( "HP:0011335") AnnotationAssertion(rdfs:label "Frontal hirsutism") @@ -118931,8 +118924,8 @@ SubClassOf( ) AnnotationAssertion( "2012-02-26T11:00:17Z") AnnotationAssertion( "UMLS:C4023408") -AnnotationAssertion(Annotation( ) "Abnormality of mouth size") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of mouth size") +AnnotationAssertion(Annotation( ) "Abnormality of mouth size") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of mouth size") AnnotationAssertion( "HP:0011337") AnnotationAssertion(rdfs:label "Abnormality of mouth size") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -118945,9 +118938,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-02-26T01:05:23Z") AnnotationAssertion( "Fyler:4874") AnnotationAssertion( "UMLS:C4023407") -AnnotationAssertion(Annotation( ) "Abnormality of mouth shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of mouth shape") -AnnotationAssertion(Annotation( ) Annotation( ) "Unusual mouth shape") +AnnotationAssertion(Annotation( ) "Abnormality of mouth shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of mouth shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Unusual mouth shape") AnnotationAssertion( "HP:0011338") AnnotationAssertion(rdfs:label "Abnormality of mouth shape") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -118959,7 +118952,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-26T01:32:28Z") AnnotationAssertion( "UMLS:C4023406") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the red part of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the red part of the upper lip") AnnotationAssertion(Annotation( ) "Anomaly of the upper lip vermillion") AnnotationAssertion(Annotation( ) "Deformity of the upper lip vermillion") AnnotationAssertion(Annotation( ) "Malformation of the upper lip vermillion") @@ -118975,9 +118968,9 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021158") AnnotationAssertion( "Forme fruste unilateral cleft lip") AnnotationAssertion(Annotation( ) "Incomplete cheiloschisis") -AnnotationAssertion(Annotation( ) "Incomplete cleft of the upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched cleft of the upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial cleft of the upper lip") +AnnotationAssertion(Annotation( ) "Incomplete cleft of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched cleft of the upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial cleft of the upper lip") AnnotationAssertion( "HP:0011340") AnnotationAssertion(rdfs:comment "If the cleft lip is on only one side, use 'Incomplete unilateral cleft lip' (HP:5201000).") AnnotationAssertion(rdfs:label "Incomplete cleft of the upper lip") @@ -118989,10 +118982,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-02-26T01:58:08Z") AnnotationAssertion( "UMLS:C3151495") -AnnotationAssertion(Annotation( ) Annotation( ) "Elongation of upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of upper lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical length of upper lip") -AnnotationAssertion(Annotation( ) "Long upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Elongation of upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased vertical length of upper lip") +AnnotationAssertion(Annotation( ) "Long upper lip") AnnotationAssertion( "HP:0011341") AnnotationAssertion(rdfs:label "Long upper lip") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -119142,8 +119135,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-01T01:55:07Z") AnnotationAssertion( "UMLS:C4021157") -AnnotationAssertion(Annotation( ) "Generalised abnormality of skin") -AnnotationAssertion(Annotation( ) "Generalized abnormality of skin") +AnnotationAssertion(Annotation( ) "Generalised abnormality of skin") +AnnotationAssertion(Annotation( ) "Generalized abnormality of skin") AnnotationAssertion( "HP:0011354") AnnotationAssertion(rdfs:label "Generalized abnormality of skin") SubClassOf( ) @@ -119155,7 +119148,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-01T02:37:43Z") AnnotationAssertion( "UMLS:C0850826") AnnotationAssertion(Annotation( ) "Localised skin lesion") -AnnotationAssertion(Annotation( ) "Localized skin lesion") +AnnotationAssertion(Annotation( ) "Localized skin lesion") AnnotationAssertion( "HP:0011355") AnnotationAssertion(rdfs:label "Localized skin lesion") SubClassOf( ) @@ -119200,7 +119193,7 @@ AnnotationAssertion( "HP:0200080") AnnotationAssertion( "SNOMEDCT_US:79395009") AnnotationAssertion( "UMLS:C0277960") -AnnotationAssertion(Annotation( ) "Dry hair") +AnnotationAssertion(Annotation( ) "Dry hair") AnnotationAssertion( "HP:0011359") AnnotationAssertion(rdfs:label "Dry hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -119212,7 +119205,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-01T08:36:23Z") AnnotationAssertion( "UMLS:C4023399") -AnnotationAssertion(Annotation( ) "Acquired abnormal hair pattern") +AnnotationAssertion(Annotation( ) "Acquired abnormal hair pattern") AnnotationAssertion( "HP:0011360") AnnotationAssertion(rdfs:label "Acquired abnormal hair pattern") SubClassOf( ) @@ -119223,7 +119216,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-01T08:39:51Z") AnnotationAssertion( "UMLS:C4023398") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hair pattern since birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hair pattern since birth") AnnotationAssertion( "HP:0011361") AnnotationAssertion(rdfs:label "Congenital abnormal hair pattern") SubClassOf( ) @@ -119237,7 +119230,7 @@ AnnotationAssertion( "HP:0011357") AnnotationAssertion( "UMLS:C4023397") AnnotationAssertion( "UMLS:C4023401") -AnnotationAssertion(Annotation( ) "Abnormal hair quantity") +AnnotationAssertion(Annotation( ) "Abnormal hair quantity") AnnotationAssertion( "Abnormality of hair density") AnnotationAssertion( "HP:0011362") AnnotationAssertion(rdfs:label "Abnormal hair quantity") @@ -119250,9 +119243,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-01T09:46:36Z") AnnotationAssertion( "UMLS:C4023396") -AnnotationAssertion(Annotation( ) "Abnormality of hair growth rate") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of pace of hair growth") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of speed of hair growth") +AnnotationAssertion(Annotation( ) "Abnormality of hair growth rate") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of pace of hair growth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of speed of hair growth") AnnotationAssertion( "HP:0011363") AnnotationAssertion(rdfs:comment "Hair growth rate is normally about 1.25 centimeters per month.") AnnotationAssertion(rdfs:label "Abnormality of hair growth rate") @@ -119265,7 +119258,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-01T09:50:48Z") AnnotationAssertion( "SNOMEDCT_US:297993006") AnnotationAssertion( "UMLS:C0239804") -AnnotationAssertion(Annotation( ) "White hair") +AnnotationAssertion(Annotation( ) "White hair") AnnotationAssertion( "HP:0011364") AnnotationAssertion(rdfs:label "White hair") SubClassOf( ) @@ -119287,7 +119280,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-03T12:08:12Z") AnnotationAssertion( "SNOMEDCT_US:45342007") AnnotationAssertion( "UMLS:C1768507") -AnnotationAssertion(Annotation( ) "Yellow nails") +AnnotationAssertion(Annotation( ) "Yellow nails") AnnotationAssertion( "HP:0011367") AnnotationAssertion(rdfs:label "Yellow nails") SubClassOf( ) @@ -119335,7 +119328,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2012-03-03T10:36:20Z") AnnotationAssertion( "UMLS:C4023393") -AnnotationAssertion(Annotation( ) "Recurrent viral skin infections") +AnnotationAssertion(Annotation( ) "Recurrent viral skin infections") AnnotationAssertion( "HP:0011371") AnnotationAssertion(rdfs:label "Recurrent viral skin infections") SubClassOf( ) @@ -119348,7 +119341,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-07T08:23:52Z") AnnotationAssertion( "SNOMEDCT_US:71973003") AnnotationAssertion( "UMLS:C0266604") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent inner ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent inner ear") AnnotationAssertion( "Aplasia of the labyrinth") AnnotationAssertion( "Labyrinthine aplasia") AnnotationAssertion( "Michel deformity") @@ -119554,7 +119547,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-09T04:58:30Z") AnnotationAssertion( "UMLS:C4023382") -AnnotationAssertion(Annotation( ) "Functional abnormality of the inner ear") +AnnotationAssertion(Annotation( ) "Functional abnormality of the inner ear") AnnotationAssertion( "HP:0011389") AnnotationAssertion(rdfs:comment "The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium.") AnnotationAssertion(rdfs:label "Functional abnormality of the inner ear") @@ -119631,8 +119624,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-09T05:37:50Z") AnnotationAssertion( "UMLS:C4023378") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cochlea") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cochlea") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cochlea") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cochlea") AnnotationAssertion( "HP:0011395") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the cochlea") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -119807,7 +119800,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-15T09:58:01Z") AnnotationAssertion( "SNOMEDCT_US:200144004") AnnotationAssertion( "UMLS:C1384674") -AnnotationAssertion(Annotation( ) "Caesarian section") +AnnotationAssertion(Annotation( ) "Caesarian section") AnnotationAssertion( "HP:0011410") AnnotationAssertion(rdfs:label "Caesarian section") SubClassOf( ) @@ -119817,7 +119810,7 @@ SubClassOf( ) AnnotationAssertion( "2012-03-15T09:58:47Z") AnnotationAssertion( "UMLS:C0341808") -AnnotationAssertion(Annotation( ) "Forceps delivery") +AnnotationAssertion(Annotation( ) "Forceps delivery") AnnotationAssertion( "HP:0011411") AnnotationAssertion(rdfs:label "Forceps delivery") SubClassOf( ) @@ -119833,8 +119826,8 @@ AnnotationAssertion( "UMLS:C0042225") AnnotationAssertion( "UMLS:C1456852") AnnotationAssertion( "UMLS:C2825567") -AnnotationAssertion(Annotation( ) Annotation( ) "Vacuum extraction") -AnnotationAssertion(Annotation( ) Annotation( ) "Vacuum-assisted vaginal delivery") +AnnotationAssertion(Annotation( ) Annotation( ) "Vacuum extraction") +AnnotationAssertion(Annotation( ) Annotation( ) "Vacuum-assisted vaginal delivery") AnnotationAssertion( "HP:0011412") AnnotationAssertion(rdfs:label "Ventouse delivery") SubClassOf( ) @@ -119893,7 +119886,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-15T10:12:55Z") AnnotationAssertion( "SNOMEDCT_US:237261008") AnnotationAssertion( "UMLS:C0405028") -AnnotationAssertion(Annotation( ) "Long umbilical cord") +AnnotationAssertion(Annotation( ) "Long umbilical cord") AnnotationAssertion( "HP:0011417") AnnotationAssertion(rdfs:label "Long umbilical cord") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -119939,7 +119932,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-16T06:38:44Z") AnnotationAssertion( "UMLS:C4023368") -AnnotationAssertion(Annotation( ) "Death in adolescence") +AnnotationAssertion(Annotation( ) "Death in adolescence") AnnotationAssertion( "HP:0011421") AnnotationAssertion(rdfs:label "Death in adolescence") SubClassOf( ) @@ -120027,7 +120020,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-17T07:05:40Z") AnnotationAssertion( "UMLS:C0743924") -AnnotationAssertion(Annotation( ) Annotation( ) "Short fetal thigh bone length") +AnnotationAssertion(Annotation( ) Annotation( ) "Short fetal thigh bone length") AnnotationAssertion(Annotation( ) "Short foetal femur length") AnnotationAssertion(Annotation( ) "Short foetal thigh bone length") AnnotationAssertion( "HP:0011428") @@ -120041,7 +120034,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-17T07:07:05Z") AnnotationAssertion( "UMLS:C4023364") -AnnotationAssertion(Annotation( ) Annotation( ) "Short fetal long bone in upper arm length") +AnnotationAssertion(Annotation( ) Annotation( ) "Short fetal long bone in upper arm length") AnnotationAssertion(Annotation( ) "Short foetal humerus length") AnnotationAssertion(Annotation( ) "Short foetal long bone in upper arm length") AnnotationAssertion( "HP:0011429") @@ -120056,7 +120049,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-03-17T07:08:30Z") AnnotationAssertion( "UMLS:C4023363") AnnotationAssertion(Annotation( ) "Hypoplasia of foetal nasal bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fetal nose bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fetal nose bone") AnnotationAssertion(Annotation( ) "Underdeveloped foetal nose bone") AnnotationAssertion( "HP:0011430") AnnotationAssertion(rdfs:label "Hypoplasia of fetal nasal bone") @@ -120068,9 +120061,9 @@ SubClassOf( ) Annotation( "PMID:16100637") "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-17T07:11:26Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Fetal little finger curvature") -AnnotationAssertion(Annotation( ) Annotation( ) "Fetal pinkie finger curvature") -AnnotationAssertion(Annotation( ) Annotation( ) "Fetal pinky finger curvature") +AnnotationAssertion(Annotation( ) Annotation( ) "Fetal little finger curvature") +AnnotationAssertion(Annotation( ) Annotation( ) "Fetal pinkie finger curvature") +AnnotationAssertion(Annotation( ) Annotation( ) "Fetal pinky finger curvature") AnnotationAssertion(Annotation( ) "Foetal little finger curvature") AnnotationAssertion(Annotation( ) "Foetal pinkie finger curvature") AnnotationAssertion(Annotation( ) "Foetal pinky finger curvature") @@ -120219,8 +120212,8 @@ SubClassOf( ) AnnotationAssertion( "2012-03-18T02:40:46Z") AnnotationAssertion( "UMLS:C4023353") -AnnotationAssertion(Annotation( ) "Abnormality of coordination") -AnnotationAssertion(Annotation( ) "Coordination issue") +AnnotationAssertion(Annotation( ) "Abnormality of coordination") +AnnotationAssertion(Annotation( ) "Coordination issue") AnnotationAssertion( "HP:0011443") AnnotationAssertion(rdfs:label "Abnormality of coordination") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -120289,7 +120282,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0002541") AnnotationAssertion( "SNOMEDCT_US:39055007") AnnotationAssertion( "UMLS:C0238651") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal rhythmic movements of ankle") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal rhythmic movements of ankle") AnnotationAssertion( "HP:0011448") AnnotationAssertion(rdfs:comment "Ankle clonus is generally caused by corticospinal disease.") AnnotationAssertion(rdfs:label "Ankle clonus") @@ -120319,7 +120312,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D002494") AnnotationAssertion( "SNOMEDCT_US:128117002") AnnotationAssertion( "UMLS:C0007684") -AnnotationAssertion(Annotation( ) Annotation( ) "Central nervous system infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Central nervous system infection") AnnotationAssertion( "HP:0011450") AnnotationAssertion(rdfs:label "Unusual CNS infection") SubClassOf( ) @@ -120333,7 +120326,7 @@ AnnotationAssertion( AnnotationAssertion(Annotation( ) "Congenital small head") AnnotationAssertion(Annotation( ) "Congenital small head circumference") AnnotationAssertion(Annotation( ) "Small head circumference present at birth") -AnnotationAssertion(Annotation( ) Annotation( ) "Small head present at birth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small head present at birth") AnnotationAssertion(Annotation( ) "Small skull present at birth") AnnotationAssertion( "UMLS:C2677180") AnnotationAssertion( "UMLS:C4020749") @@ -120354,7 +120347,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-19T09:33:03Z") AnnotationAssertion( "UMLS:C4021846") -AnnotationAssertion(Annotation( ) "Functional abnormality of the middle ear") +AnnotationAssertion(Annotation( ) "Functional abnormality of the middle ear") AnnotationAssertion( "HP:0011452") AnnotationAssertion(rdfs:comment "The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube.") AnnotationAssertion(rdfs:label "Functional abnormality of the middle ear") @@ -120415,10 +120408,10 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:34887006") AnnotationAssertion( "UMLS:C0271321") AnnotationAssertion( "Ciliary Madarosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelashes fell out") -AnnotationAssertion(Annotation( ) "Loss of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelashes fell out") +AnnotationAssertion(Annotation( ) "Loss of eyelashes") AnnotationAssertion( "Milphosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyelashes") AnnotationAssertion( "HP:0011457") AnnotationAssertion(rdfs:comment "Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions.") AnnotationAssertion(rdfs:label "Loss of eyelashes") @@ -120489,7 +120482,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0003586") AnnotationAssertion( "HP:0003617") AnnotationAssertion( "UMLS:C1837352") -AnnotationAssertion(Annotation( ) Annotation( ) "Symptoms begin in childhood") +AnnotationAssertion(Annotation( ) Annotation( ) "Symptoms begin in childhood") AnnotationAssertion( "HP:0011463") AnnotationAssertion(rdfs:comment "This term refers to ages up to but not including the fifth birthday (see Juvenile onset).") AnnotationAssertion(rdfs:label "Childhood onset") @@ -120522,8 +120515,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-03-25T07:40:20Z") AnnotationAssertion( "UMLS:C4023344") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small gallbladder") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped gallbladder") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small gallbladder") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped gallbladder") AnnotationAssertion( "HP:0011466") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the gallbladder") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -120537,7 +120530,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C562564") AnnotationAssertion( "SNOMEDCT_US:86507001") AnnotationAssertion( "UMLS:C0266251") -AnnotationAssertion(Annotation( ) "Absent gallbladder") +AnnotationAssertion(Annotation( ) "Absent gallbladder") AnnotationAssertion( "Agenesis of the gallbladder") AnnotationAssertion( "Aplasia of the gallbladder") AnnotationAssertion( "HP:0011467") @@ -120558,15 +120551,15 @@ AnnotationAssertion( "UMLS:C0858722") AnnotationAssertion( "UMLS:C4280324") AnnotationAssertion( "UMLS:C4280325") -AnnotationAssertion(Annotation( ) Annotation( ) "Cramping of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial spasms") -AnnotationAssertion(Annotation( ) "Facial tics") -AnnotationAssertion(Annotation( ) Annotation( ) "Jerking of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Mimic spasms") -AnnotationAssertion(Annotation( ) Annotation( ) "Spasms of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Twitching of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary facial muscle spasms") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle spasm of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Cramping of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial spasms") +AnnotationAssertion(Annotation( ) "Facial tics") +AnnotationAssertion(Annotation( ) Annotation( ) "Jerking of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Mimic spasms") +AnnotationAssertion(Annotation( ) Annotation( ) "Spasms of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Twitching of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary facial muscle spasms") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle spasm of face") AnnotationAssertion( "HP:0011468") AnnotationAssertion(rdfs:label "Facial tics") SubClassOf( ) @@ -120694,7 +120687,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-01T12:19:11Z") AnnotationAssertion( "UMLS:C2675590") AnnotationAssertion(Annotation( ) "Complete anophthalmia") -AnnotationAssertion(Annotation( ) Annotation( ) "Completely missing eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Completely missing eyeball") AnnotationAssertion(Annotation( ) "Total anophthalmia") AnnotationAssertion( "HP:0011478") AnnotationAssertion(rdfs:comment "True anophthalmia implies an early failure of eye development.") @@ -120720,7 +120713,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-01T12:35:57Z") AnnotationAssertion( "UMLS:C3640024") AnnotationAssertion( "UMLS:C4280323") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyeball on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyeball on one side") AnnotationAssertion(Annotation( ) "Unilateral nanophthalmos") AnnotationAssertion( "HP:0011480") AnnotationAssertion(rdfs:label "Unilateral microphthalmos") @@ -120913,7 +120906,7 @@ AnnotationAssertion( ) "Corneal neovascularisation") AnnotationAssertion( "Corneal vascularization") AnnotationAssertion( "Limbal neovascularization") -AnnotationAssertion(Annotation( ) Annotation( ) "New blood vessel formation in cornea") +AnnotationAssertion(Annotation( ) Annotation( ) "New blood vessel formation in cornea") AnnotationAssertion( "Corneal pannus") AnnotationAssertion( "HP:0011496") AnnotationAssertion(rdfs:comment "New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization.") @@ -120928,7 +120921,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:51995000") AnnotationAssertion( "UMLS:C0154916") AnnotationAssertion( "Neovascularization of the iris") -AnnotationAssertion(Annotation( ) Annotation( ) "New blood vessel formation in iris") +AnnotationAssertion(Annotation( ) Annotation( ) "New blood vessel formation in iris") AnnotationAssertion( "HP:0011497") AnnotationAssertion(rdfs:label "Iris neovascularization") SubClassOf( ) @@ -120949,7 +120942,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D015878") AnnotationAssertion( "SNOMEDCT_US:37125009") AnnotationAssertion( "UMLS:C0026961") -AnnotationAssertion(Annotation( ) Annotation( ) "Dilated pupil") +AnnotationAssertion(Annotation( ) Annotation( ) "Dilated pupil") AnnotationAssertion( "HP:0011499") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Mydriasis") @@ -120962,7 +120955,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-04T07:19:56Z") AnnotationAssertion( "SNOMEDCT_US:204159004") AnnotationAssertion( "UMLS:C0344544") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple pupils") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple pupils") AnnotationAssertion( "HP:0011500") AnnotationAssertion(rdfs:label "Polycoria") SubClassOf( ) @@ -121204,7 +121197,7 @@ AnnotationAssertion( "SNOMEDCT_US:77479002") AnnotationAssertion( "UMLS:C0155016") AnnotationAssertion( "Deuteranomoly") -AnnotationAssertion(Annotation( ) Annotation( ) "Green-weak") +AnnotationAssertion(Annotation( ) Annotation( ) "Green-weak") AnnotationAssertion( "HP:0011520") AnnotationAssertion(rdfs:comment "Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green.") AnnotationAssertion(rdfs:label "Deuteranomaly") @@ -121220,7 +121213,7 @@ AnnotationAssertion( "SNOMEDCT_US:246674000") AnnotationAssertion( "SNOMEDCT_US:77479002") AnnotationAssertion( "UMLS:C0155016") -AnnotationAssertion(Annotation( ) Annotation( ) "Green-blind") +AnnotationAssertion(Annotation( ) Annotation( ) "Green-blind") AnnotationAssertion( "HP:0011521") AnnotationAssertion(rdfs:comment "Blue and red cones only; no functional green cones.") AnnotationAssertion(rdfs:label "Deuteranopia") @@ -121235,7 +121228,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:51445007") AnnotationAssertion( "UMLS:C0155015") -AnnotationAssertion(Annotation( ) Annotation( ) "Red-blind") +AnnotationAssertion(Annotation( ) Annotation( ) "Red-blind") AnnotationAssertion( "HP:0011522") AnnotationAssertion(rdfs:label "Protanopia") SubClassOf( ) @@ -121273,7 +121266,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-06T09:11:42Z") AnnotationAssertion( "SNOMEDCT_US:95711003") AnnotationAssertion( "UMLS:C0346376") -AnnotationAssertion(Annotation( ) Annotation( ) "Eye freckle") +AnnotationAssertion(Annotation( ) Annotation( ) "Eye freckle") AnnotationAssertion( "HP:0011525") AnnotationAssertion(rdfs:label "Iris nevus") SubClassOf( ) @@ -121284,7 +121277,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-06T09:16:11Z") AnnotationAssertion( "UMLS:C4023314") -AnnotationAssertion(Annotation( ) "Abnormality of lens shape") +AnnotationAssertion(Annotation( ) "Abnormality of lens shape") AnnotationAssertion( "HP:0011526") AnnotationAssertion(rdfs:label "Abnormality of lens shape") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -121295,7 +121288,7 @@ SubClassOf( ) "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T09:17:01Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Bulging of eye lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Bulging of eye lens") AnnotationAssertion( "SNOMEDCT_US:419281007") AnnotationAssertion( "UMLS:C1622439") AnnotationAssertion( "UMLS:C4280322") @@ -121400,7 +121393,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-07T10:31:16Z") AnnotationAssertion( "SNOMEDCT_US:445898001") AnnotationAssertion( "UMLS:C2959688") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal location of heart atrium") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal location of heart atrium") AnnotationAssertion( "HP:0011535") AnnotationAssertion(rdfs:label "Abnormal atrial arrangement") SubClassOf( ) @@ -122548,7 +122541,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-08T10:11:03Z") AnnotationAssertion( "UMLS:C4023256") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent lining around of left side of heart") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent lining around of left side of heart") AnnotationAssertion( "HP:0011633") AnnotationAssertion(rdfs:comment "A congenital anomaly and not the result of a pericardectomy.") AnnotationAssertion(rdfs:label "Complete left sided absence of pericardium") @@ -122943,7 +122936,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D054549") AnnotationAssertion( "SNOMEDCT_US:441541008") AnnotationAssertion( "UMLS:C1739395") -AnnotationAssertion(Annotation( ) Annotation( ) "Broken-heart syndrome") +AnnotationAssertion(Annotation( ) Annotation( ) "Broken-heart syndrome") AnnotationAssertion( "HP:0011665") AnnotationAssertion(rdfs:label "Takotsubo cardiomyopathy") SubClassOf( ) @@ -123070,14 +123063,14 @@ AnnotationAssertion( "UMLS:C0855329") AnnotationAssertion( "UMLS:C1832603") AnnotationAssertion( "UMLS:C1842820") -AnnotationAssertion(Annotation( ) "Abnormal heart rate") +AnnotationAssertion(Annotation( ) "Abnormal heart rate") AnnotationAssertion( "Arrhythmias") AnnotationAssertion( "Cardiac arrhythmia") AnnotationAssertion( "Cardiac arrhythmias") AnnotationAssertion( "Cardiac rhythm disturbances") -AnnotationAssertion(Annotation( ) "Heart rhythm disorders") -AnnotationAssertion(Annotation( ) "Irregular heart beat") -AnnotationAssertion(Annotation( ) "Irregular heartbeat") +AnnotationAssertion(Annotation( ) "Heart rhythm disorders") +AnnotationAssertion(Annotation( ) "Irregular heart beat") +AnnotationAssertion(Annotation( ) "Irregular heartbeat") AnnotationAssertion( "HP:0011675") AnnotationAssertion(rdfs:label "Arrhythmia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -123577,7 +123570,7 @@ AnnotationAssertion( "SNOMEDCT_US:128585006") AnnotationAssertion( "SNOMEDCT_US:199113001") AnnotationAssertion( "UMLS:C0265914") -AnnotationAssertion(Annotation( ) "Abnormality of lung veins") +AnnotationAssertion(Annotation( ) "Abnormality of lung veins") AnnotationAssertion( "HP:0011718") AnnotationAssertion(rdfs:comment "The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium.") AnnotationAssertion(rdfs:label "Abnormality of the pulmonary veins") @@ -123874,7 +123867,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-21T09:45:15Z") AnnotationAssertion( "SNOMEDCT_US:49494003") AnnotationAssertion( "UMLS:C0266275") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal adrenal gland position") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal adrenal gland position") AnnotationAssertion( "HP:0011742") AnnotationAssertion(rdfs:label "Ectopic adrenal gland") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -124176,9 +124169,9 @@ SubClassOf( ) Annotation( ) "A functional abnormality of the parathyroid gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-22T04:09:13Z") -AnnotationAssertion(Annotation( ) "Parathyroid issue") +AnnotationAssertion(Annotation( ) "Parathyroid issue") AnnotationAssertion( "UMLS:C4023198") -AnnotationAssertion(Annotation( ) "Parathyroid dysfunction") +AnnotationAssertion(Annotation( ) "Parathyroid dysfunction") AnnotationAssertion( "HP:0011767") AnnotationAssertion(rdfs:label "Abnormality of the parathyroid physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -124234,7 +124227,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-22T05:54:57Z") AnnotationAssertion( "UMLS:C4023195") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of thyroid gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of thyroid gland") AnnotationAssertion( "Abnormality of thyroid morphology") AnnotationAssertion( "HP:0011772") AnnotationAssertion(rdfs:label "Abnormal thyroid morphology") @@ -124530,10 +124523,10 @@ SubClassOf( ) AnnotationAssertion( "2012-04-23T07:27:57Z") AnnotationAssertion( "UMLS:C4023183") -AnnotationAssertion(Annotation( ) "Abnormality of facial soft tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of facial soft tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of facial soft tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of facial soft tissue") +AnnotationAssertion(Annotation( ) "Abnormality of facial soft tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of facial soft tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of facial soft tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of facial soft tissue") AnnotationAssertion( "HP:0011799") AnnotationAssertion(rdfs:label "Abnormality of facial soft tissue") SubClassOf( ) @@ -124544,21 +124537,21 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-24T07:46:05Z") AnnotationAssertion( "HP:0040199") -AnnotationAssertion(Annotation( ) Annotation( ) "Small midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Small midface") AnnotationAssertion( "UMLS:C1853242") AnnotationAssertion( "UMLS:C2673410") AnnotationAssertion( "UMLS:C4280320") AnnotationAssertion( "UMLS:C4280321") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of midface") AnnotationAssertion( "Flat midface") AnnotationAssertion( "Hypoplasia of midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Midface deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Midface deficiency") AnnotationAssertion(Annotation( ) "Midface hypoplasia") -AnnotationAssertion(Annotation( ) "Midface retrusion") +AnnotationAssertion(Annotation( ) "Midface retrusion") AnnotationAssertion( "Midface, flat") AnnotationAssertion(Annotation( ) Annotation( ) "Retrusive midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased projection of midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased projection of midface") AnnotationAssertion(Annotation( ) "Hypotrophic midface") AnnotationAssertion( "HP:0011800") AnnotationAssertion( ) @@ -124604,10 +124597,10 @@ AnnotationAssertion( "UMLS:C4280318") AnnotationAssertion( "UMLS:C4280319") AnnotationAssertion(Annotation( ) "Bifid nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Indentation or clefting of the nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nasal bridge") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Indented bridge of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Indentation or clefting of the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nasal bridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Indented bridge of nose") AnnotationAssertion( "HP:0011803") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip.") @@ -124622,7 +124615,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-25T02:00:15Z") AnnotationAssertion( "UMLS:C4023182") AnnotationAssertion( "Abnormality of muscle physiology") -AnnotationAssertion(Annotation( ) "Issue with muscle function") +AnnotationAssertion(Annotation( ) "Issue with muscle function") AnnotationAssertion( "HP:0011804") AnnotationAssertion(rdfs:label "Abnormal muscle physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -124637,8 +124630,8 @@ AnnotationAssertion( "UMLS:C4023181") AnnotationAssertion( "Abnormal muscle morphology") AnnotationAssertion( "Abnormality of muscle morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped muscle") -AnnotationAssertion(Annotation( ) "Issue with muscle structure") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped muscle") +AnnotationAssertion(Annotation( ) "Issue with muscle structure") AnnotationAssertion( "HP:0011805") AnnotationAssertion(rdfs:label "Abnormal skeletal muscle morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -124661,7 +124654,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-27T08:38:22Z") AnnotationAssertion( "UMLS:C3277184") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased knee jerk reflex") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased knee jerk reflex") AnnotationAssertion(Annotation( ) "Decreased patellar reflexes") AnnotationAssertion( "HP:0011808") AnnotationAssertion(rdfs:label "Decreased patellar reflex") @@ -124813,14 +124806,14 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-29T04:37:30Z") AnnotationAssertion( "SNOMEDCT_US:433096001") AnnotationAssertion( "UMLS:C2315229") -AnnotationAssertion(Annotation( ) "Abnormality of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of facial skeleton") +AnnotationAssertion(Annotation( ) "Abnormality of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of the facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of facial skeleton") AnnotationAssertion( "HP:0011821") AnnotationAssertion(rdfs:comment "The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.") AnnotationAssertion(rdfs:label "Abnormal facial skeleton morphology") @@ -124833,10 +124826,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-30T08:23:35Z") AnnotationAssertion( "UMLS:C4023172") -AnnotationAssertion(Annotation( ) "Broad chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of chin") +AnnotationAssertion(Annotation( ) "Broad chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of chin") AnnotationAssertion(Annotation( ) "Increased width of menton region") -AnnotationAssertion(Annotation( ) "Wide chin") +AnnotationAssertion(Annotation( ) "Wide chin") AnnotationAssertion( "HP:0011822") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Broad chin") @@ -124849,11 +124842,11 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-30T08:33:02Z") AnnotationAssertion( "UMLS:C4023171") -AnnotationAssertion(Annotation( ) "Chin with horizontal crease") +AnnotationAssertion(Annotation( ) "Chin with horizontal crease") AnnotationAssertion( "Chin with horizontal furrow") -AnnotationAssertion(Annotation( ) "Chin with horizontal groove") +AnnotationAssertion(Annotation( ) "Chin with horizontal groove") AnnotationAssertion( "Chin with horizontal sulcus") -AnnotationAssertion(Annotation( ) Annotation( ) "Horizontal chin skin cleft") +AnnotationAssertion(Annotation( ) Annotation( ) "Horizontal chin skin cleft") AnnotationAssertion(Annotation( ) "Horizontal menton crease") AnnotationAssertion( "HP:0011823") AnnotationAssertion(rdfs:label "Chin with horizontal crease") @@ -124865,10 +124858,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-30T08:34:24Z") AnnotationAssertion( "UMLS:C1860309") -AnnotationAssertion(Annotation( ) "Chin with H-shaped crease") -AnnotationAssertion(Annotation( ) "Chin, H-Shaped Crease") -AnnotationAssertion(Annotation( ) "Chin, H-shaped groove") -AnnotationAssertion(Annotation( ) "H-shaped dimple of the chin") +AnnotationAssertion(Annotation( ) "Chin with H-shaped crease") +AnnotationAssertion(Annotation( ) "Chin, H-Shaped Crease") +AnnotationAssertion(Annotation( ) "Chin, H-shaped groove") +AnnotationAssertion(Annotation( ) "H-shaped dimple of the chin") AnnotationAssertion( "HP:0011824") AnnotationAssertion(rdfs:comment "The H-shape must be distinguished from Vertical crease of the chin.") AnnotationAssertion(rdfs:label "Chin with H-shaped crease") @@ -124956,7 +124949,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-05-01T10:43:40Z") AnnotationAssertion( "UMLS:C4023170") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of lining of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of lining of mouth") AnnotationAssertion(Annotation( ) "Abnormality of mucosa of mouth") AnnotationAssertion( "Abnormality of oral mucosa") AnnotationAssertion(Annotation( ) "Abnormality of oral mucous membrane") @@ -124973,14 +124966,14 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-05-01T07:37:48Z") AnnotationAssertion( "UMLS:C4021114") AnnotationAssertion( "UMLS:C4280271") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Crooked tip of nose") -AnnotationAssertion(Annotation( ) "Deviated nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Deviated tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Crooked tip of nose") +AnnotationAssertion(Annotation( ) "Deviated nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Deviated tip of nose") AnnotationAssertion( "Nasal tip, deviated") -AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of the nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Distortion of the nasal tip") AnnotationAssertion( "HP:0011831") AnnotationAssertion(rdfs:comment "There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip.") AnnotationAssertion(rdfs:label "Deviated nasal tip") @@ -124993,14 +124986,14 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-05-01T07:39:09Z") AnnotationAssertion( "SNOMEDCT_US:249331008") AnnotationAssertion( "UMLS:C0426433") -AnnotationAssertion(Annotation( ) "Narrow nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow tip of nose") -AnnotationAssertion(Annotation( ) "Nasal tip, narrow") -AnnotationAssertion(Annotation( ) "Nasal tip, pinched") -AnnotationAssertion(Annotation( ) "Pinched nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Pinched tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin tip of nose") +AnnotationAssertion(Annotation( ) "Narrow nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow tip of nose") +AnnotationAssertion(Annotation( ) "Nasal tip, narrow") +AnnotationAssertion(Annotation( ) "Nasal tip, pinched") +AnnotationAssertion(Annotation( ) "Pinched nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Pinched tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin tip of nose") AnnotationAssertion( "HP:0011832") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available.") @@ -125014,11 +125007,11 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-05-01T07:42:15Z") AnnotationAssertion( "SNOMEDCT_US:249328007") AnnotationAssertion( "UMLS:C0426430") -AnnotationAssertion(Annotation( ) "Drooping nasal tip") -AnnotationAssertion(Annotation( ) Annotation( ) "Hooked tip of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Low hanging nasal tip") -AnnotationAssertion(Annotation( ) "Nasal tip, overhanging") -AnnotationAssertion(Annotation( ) "Overhanging nasal tip") +AnnotationAssertion(Annotation( ) "Drooping nasal tip") +AnnotationAssertion(Annotation( ) Annotation( ) "Hooked tip of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Low hanging nasal tip") +AnnotationAssertion(Annotation( ) "Nasal tip, overhanging") +AnnotationAssertion(Annotation( ) "Overhanging nasal tip") AnnotationAssertion( "HP:0011833") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately.") @@ -125130,7 +125123,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-05-07T08:08:37Z") AnnotationAssertion( "UMLS:C4023165") AnnotationAssertion( "Abnormality of skeletal morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped skeletal") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped skeletal") AnnotationAssertion( "HP:0011842") AnnotationAssertion(rdfs:label "Abnormal skeletal morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -125166,7 +125159,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-05-08T07:36:00Z") AnnotationAssertion( "UMLS:C4023162") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 2nd long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 2nd long bone of foot") AnnotationAssertion( "HP:0011845") AnnotationAssertion(rdfs:label "Short second metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -125220,7 +125213,7 @@ AnnotationAssertion( AnnotationAssertion(Annotation(rdfs:label "Abnormal bone ossification") "MP:0008271") AnnotationAssertion( "UMLS:C4023161") AnnotationAssertion( "UMLS:C4280317") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal bone maturation") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal bone maturation") AnnotationAssertion( "HP:0011849") AnnotationAssertion(rdfs:comment "All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification.") AnnotationAssertion(rdfs:label "Abnormal bone ossification") @@ -125297,7 +125290,7 @@ AnnotationAssertion( "UMLS:C0236024") AnnotationAssertion(Annotation( ) "Pharyngeal oedema") AnnotationAssertion( "Swollen throat") -AnnotationAssertion(Annotation( ) Annotation( ) "Throat swelling") +AnnotationAssertion(Annotation( ) Annotation( ) "Throat swelling") AnnotationAssertion( "HP:0011855") AnnotationAssertion(rdfs:label "Pharyngeal edema") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -125395,7 +125388,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-05-27T04:08:55Z") AnnotationAssertion( "HP:0006624") AnnotationAssertion( "UMLS:C1860243") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of breastbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of breastbone") AnnotationAssertion( "Sternal ossification center abnormalities") AnnotationAssertion(Annotation( ) "Sternal ossification centre abnormalities") AnnotationAssertion( "HP:0011863") @@ -125512,7 +125505,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-05-31T03:43:59Z") AnnotationAssertion( "UMLS:C0855742") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of platelets") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of platelets") AnnotationAssertion( "HP:0011875") AnnotationAssertion(rdfs:label "Abnormal platelet morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -125535,7 +125528,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-05-31T03:58:17Z") AnnotationAssertion( "UMLS:C1096367") -AnnotationAssertion(Annotation( ) "Large platelets") +AnnotationAssertion(Annotation( ) "Large platelets") AnnotationAssertion( "HP:0011877") AnnotationAssertion(rdfs:comment "Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).") AnnotationAssertion(rdfs:label "Increased mean platelet volume") @@ -125625,7 +125618,7 @@ AnnotationAssertion( "SNOMEDCT_US:417244000") AnnotationAssertion( "SNOMEDCT_US:93478000") AnnotationAssertion( "UMLS:C0015402") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding from the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding from the eye") AnnotationAssertion(Annotation( ) "Haemorrhage of the eye") AnnotationAssertion( "HP:0011885") AnnotationAssertion(rdfs:label "Hemorrhage of the eye") @@ -125667,7 +125660,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-02T11:31:44Z") AnnotationAssertion( "UMLS:C4023144") -AnnotationAssertion(Annotation( ) "Bleeding requiring red cell transfusion") +AnnotationAssertion(Annotation( ) "Bleeding requiring red cell transfusion") AnnotationAssertion( "HP:0011888") AnnotationAssertion(rdfs:label "Bleeding requiring red cell transfusion") SubClassOf( ) @@ -125678,8 +125671,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-02T11:32:13Z") AnnotationAssertion( "UMLS:C4023143") -AnnotationAssertion(Annotation( ) "Bleeding with minor or no trauma") -AnnotationAssertion(Annotation( ) "Easy bleeding") +AnnotationAssertion(Annotation( ) "Bleeding with minor or no trauma") +AnnotationAssertion(Annotation( ) "Easy bleeding") AnnotationAssertion( "HP:0011889") AnnotationAssertion(rdfs:label "Bleeding with minor or no trauma") SubClassOf( ) @@ -125690,7 +125683,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-02T11:33:38Z") AnnotationAssertion( "UMLS:C4023142") -AnnotationAssertion(Annotation( ) "Prolonged bleeding following procedure") +AnnotationAssertion(Annotation( ) "Prolonged bleeding following procedure") AnnotationAssertion( "HP:0011890") AnnotationAssertion(rdfs:label "Prolonged bleeding following procedure") SubClassOf( ) @@ -125703,7 +125696,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D006473") AnnotationAssertion( "SNOMEDCT_US:47821001") AnnotationAssertion( "UMLS:C0032797") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding post-delivery") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding post-delivery") AnnotationAssertion( "Post-partum haemorrhage") AnnotationAssertion( "HP:0011891") AnnotationAssertion(rdfs:label "Post-partum hemorrhage") @@ -125729,7 +125722,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-06-02T05:32:39Z") AnnotationAssertion( "SNOMEDCT_US:165509000") AnnotationAssertion( "UMLS:C0580531") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal white blood cell count") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal white blood cell count") AnnotationAssertion( "HP:0011893") AnnotationAssertion(rdfs:label "Abnormal leukocyte count") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -125774,7 +125767,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-03T03:16:43Z") AnnotationAssertion( "UMLS:C4023140") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood neutrophil counts") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood neutrophil counts") AnnotationAssertion( "HP:0011897") AnnotationAssertion(rdfs:label "Neutrophilia") SubClassOf( ) @@ -125915,7 +125908,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-03T10:23:40Z") AnnotationAssertion( "UMLS:C4023134") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattened head of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattened head of long bone of hand") AnnotationAssertion( "HP:0011909") AnnotationAssertion(rdfs:comment "The metacarpal heads articulate with the proximal phalanges of the fingers.") AnnotationAssertion(rdfs:label "Flattened metacarpal heads") @@ -125927,7 +125920,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-03T10:50:44Z") AnnotationAssertion( "UMLS:C4023133") -AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all finger bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Shortening of all finger bones") AnnotationAssertion( "HP:0011910") AnnotationAssertion(rdfs:label "Shortening of all phalanges of fingers") SubClassOf( ) @@ -125939,7 +125932,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-06-03T11:03:36Z") AnnotationAssertion( "UMLS:C4023132") AnnotationAssertion( "Abnormality of metacarpophalangeal joint") -AnnotationAssertion(Annotation( ) "Abnormality of the knuckle") +AnnotationAssertion(Annotation( ) "Abnormality of the knuckle") AnnotationAssertion( "HP:0011911") AnnotationAssertion(rdfs:label "Abnormal metacarpophalangeal joint morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -126006,9 +125999,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-06-08T08:25:00Z") AnnotationAssertion( "UMLS:C4021111") AnnotationAssertion( "Short fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pinky toe") AnnotationAssertion( "HP:0011917") AnnotationAssertion(rdfs:label "Short 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -126019,7 +126012,7 @@ SubClassOf( ) "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-08T08:44:27Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of 4th toe") AnnotationAssertion( "UMLS:C4020740") AnnotationAssertion( "4th toe clinodactyly") AnnotationAssertion( "HP:0011918") @@ -126139,8 +126132,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-06-10T09:18:42Z") AnnotationAssertion( "UMLS:C1860176") AnnotationAssertion( "UMLS:C4023124") -AnnotationAssertion(Annotation( ) "Short digit") -AnnotationAssertion(Annotation( ) Annotation( ) "Very short digits") +AnnotationAssertion(Annotation( ) "Short digit") +AnnotationAssertion(Annotation( ) Annotation( ) "Very short digits") AnnotationAssertion( "HP:0011927") AnnotationAssertion(rdfs:comment "Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156.") AnnotationAssertion(rdfs:label "Short digit") @@ -126153,7 +126146,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-10T10:06:30Z") AnnotationAssertion( "UMLS:C4023123") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost toe bone") AnnotationAssertion( "HP:0011928") AnnotationAssertion(rdfs:label "Short proximal phalanx of toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -126176,8 +126169,8 @@ SubClassOf( ) AnnotationAssertion( "2012-06-10T11:37:14Z") AnnotationAssertion( "UMLS:C4021836") -AnnotationAssertion(Annotation( ) Annotation( ) "Hyperelastic chest skin") -AnnotationAssertion(Annotation( ) Annotation( ) "Stretchable chest skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Hyperelastic chest skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Stretchable chest skin") AnnotationAssertion( "HP:0011930") AnnotationAssertion(rdfs:label "Hyperextensible skin of chest") SubClassOf( ) @@ -126253,7 +126246,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-10T04:20:17Z") AnnotationAssertion( "UMLS:C4023117") -AnnotationAssertion(Annotation( ) "Decreased plasma total carnitine") +AnnotationAssertion(Annotation( ) "Decreased plasma total carnitine") AnnotationAssertion( "HP:0011936") AnnotationAssertion(rdfs:label "Decreased plasma total carnitine") SubClassOf( ) @@ -126264,8 +126257,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-10T04:27:42Z") AnnotationAssertion( "UMLS:C4023116") -AnnotationAssertion(Annotation( ) Annotation( ) "Small fifth toenail") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fifth toenail") +AnnotationAssertion(Annotation( ) Annotation( ) "Small fifth toenail") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped fifth toenail") AnnotationAssertion( "HP:0011937") AnnotationAssertion(rdfs:label "Hypoplastic fifth toenail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -126374,9 +126367,9 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D012141") AnnotationAssertion( "SNOMEDCT_US:275498002") AnnotationAssertion( "UMLS:C0035243") -AnnotationAssertion(Annotation( ) "Respiratory infection") -AnnotationAssertion(Annotation( ) "Respiratory tract infection") -AnnotationAssertion(Annotation( ) Annotation( ) "Respiratory infections") +AnnotationAssertion(Annotation( ) "Respiratory infection") +AnnotationAssertion(Annotation( ) "Respiratory tract infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Respiratory infections") AnnotationAssertion( "HP:0011947") AnnotationAssertion(rdfs:label "Respiratory tract infection") SubClassOf( ) @@ -126387,7 +126380,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-21T08:30:15Z") AnnotationAssertion( "UMLS:C1442786") -AnnotationAssertion(Annotation( ) "Acute respiratory tract infection") +AnnotationAssertion(Annotation( ) "Acute respiratory tract infection") AnnotationAssertion( "HP:0011948") AnnotationAssertion(rdfs:label "Recurrent acute respiratory tract infection") SubClassOf( ) @@ -126490,7 +126483,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-22T08:06:04Z") AnnotationAssertion( "UMLS:C4023108") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal pec muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal pec muscles") AnnotationAssertion( "HP:0011957") AnnotationAssertion(rdfs:label "Abnormal pectoral muscle morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -126507,8 +126500,8 @@ AnnotationAssertion( "SNOMEDCT_US:40024006") AnnotationAssertion( "SNOMEDCT_US:95690009") AnnotationAssertion( "UMLS:C0035321") -AnnotationAssertion(Annotation( ) Annotation( ) "Retinal tear") -AnnotationAssertion(Annotation( ) Annotation( ) "Torn retina") +AnnotationAssertion(Annotation( ) Annotation( ) "Retinal tear") +AnnotationAssertion(Annotation( ) Annotation( ) "Torn retina") AnnotationAssertion( "HP:0011958") AnnotationAssertion(rdfs:comment "Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes.") AnnotationAssertion(rdfs:label "Retinal perforation") @@ -126521,8 +126514,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-06-22T08:13:12Z") AnnotationAssertion( "UMLS:C4023107") -AnnotationAssertion(Annotation( ) Annotation( ) "Small pec muscle on one side") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pec muscle on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Small pec muscle on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped pec muscle on one side") AnnotationAssertion( "HP:0011959") AnnotationAssertion(rdfs:label "Unilateral hypoplasia of pectoralis major muscle") SubClassOf( ) @@ -126610,7 +126603,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-07-18T08:29:13Z") AnnotationAssertion( "SNOMEDCT_US:19577007") AnnotationAssertion( "UMLS:C0268070") -AnnotationAssertion(Annotation( ) Annotation( ) "Copper deficiency") +AnnotationAssertion(Annotation( ) Annotation( ) "Copper deficiency") AnnotationAssertion( "Hypocupremia") AnnotationAssertion( "Reduced serum copper") AnnotationAssertion( "HP:0011967") @@ -126625,9 +126618,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-07-18T10:25:05Z") AnnotationAssertion( "SNOMEDCT_US:78164000") AnnotationAssertion( "UMLS:C0232466") -AnnotationAssertion(Annotation( ) "Feeding difficulties") -AnnotationAssertion(Annotation( ) "Feeding problems") -AnnotationAssertion(Annotation( ) "Poor feeding") +AnnotationAssertion(Annotation( ) "Feeding difficulties") +AnnotationAssertion(Annotation( ) "Feeding problems") +AnnotationAssertion(Annotation( ) "Poor feeding") AnnotationAssertion( "HP:0011968") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Feeding difficulties") @@ -126673,7 +126666,7 @@ AnnotationAssertion( "UMLS:C0343065") AnnotationAssertion( "Dermatographism") AnnotationAssertion( "Dermographism") -AnnotationAssertion(Annotation( ) "Skin writing") +AnnotationAssertion(Annotation( ) "Skin writing") AnnotationAssertion( "HP:0011971") AnnotationAssertion(rdfs:label "Dermatographic urticaria") SubClassOf( ) @@ -126685,7 +126678,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-07-18T08:45:55Z") AnnotationAssertion( "UMLS:C0598121") AnnotationAssertion( "Decreased CSF glucose") -AnnotationAssertion(Annotation( ) Annotation( ) "Low glucose levels in cerebral spinal fluid") +AnnotationAssertion(Annotation( ) Annotation( ) "Low glucose levels in cerebral spinal fluid") AnnotationAssertion( "HP:0011972") AnnotationAssertion(rdfs:label "Hypoglycorrhachia") SubClassOf( ) @@ -126728,7 +126721,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-18T09:07:22Z") AnnotationAssertion( "UMLS:C0241577") -AnnotationAssertion(Annotation( ) "Elevated urinary catecholamines") +AnnotationAssertion(Annotation( ) "Elevated urinary catecholamines") AnnotationAssertion( "HP:0011976") AnnotationAssertion(rdfs:label "Elevated urinary catecholamine level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -126765,7 +126758,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-18T09:13:16Z") AnnotationAssertion( "UMLS:C4023099") -AnnotationAssertion(Annotation( ) "Elevated urinary dopamine") +AnnotationAssertion(Annotation( ) "Elevated urinary dopamine") AnnotationAssertion( "HP:0011979") AnnotationAssertion(rdfs:label "Elevated urinary dopamine level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -126832,7 +126825,7 @@ AnnotationAssertion( "SNOMEDCT_US:70396004") AnnotationAssertion( "UMLS:C2675627") AnnotationAssertion( "Acholia") -AnnotationAssertion(Annotation( ) Annotation( ) "Clay colored stools") +AnnotationAssertion(Annotation( ) Annotation( ) "Clay colored stools") AnnotationAssertion(Annotation( ) "Clay coloured stools") AnnotationAssertion( "Discolored, acholic stools") AnnotationAssertion( "HP:0011985") @@ -126861,7 +126854,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-19T10:46:03Z") AnnotationAssertion( "UMLS:C4023096") -AnnotationAssertion(Annotation( ) Annotation( ) "Calcification of muscle tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Calcification of muscle tissue") AnnotationAssertion( "HP:0011987") AnnotationAssertion(rdfs:label "Ectopic ossification in muscle tissue") SubClassOf( ) @@ -127001,7 +126994,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D010259") AnnotationAssertion( "SNOMEDCT_US:191667009") AnnotationAssertion( "UMLS:C1456784") -AnnotationAssertion(Annotation( ) "Paranoia") +AnnotationAssertion(Annotation( ) "Paranoia") AnnotationAssertion( "HP:0011999") AnnotationAssertion(rdfs:label "Paranoia") SubClassOf( ) @@ -127076,7 +127069,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D003690") AnnotationAssertion( "SNOMEDCT_US:313005") AnnotationAssertion( "UMLS:C0011194") -AnnotationAssertion(Annotation( ) "Deja vu") +AnnotationAssertion(Annotation( ) "Deja vu") AnnotationAssertion( "HP:0012005") AnnotationAssertion(rdfs:label "Deja vu aura") SubClassOf( ) @@ -127239,8 +127232,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-07-26T10:40:02Z") AnnotationAssertion( "MSH:D007906") AnnotationAssertion( "UMLS:C0023309") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated lens") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated lenses") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated lenses") AnnotationAssertion( "HP:0012019") AnnotationAssertion(rdfs:label "Lens luxation") SubClassOf( ) @@ -127291,7 +127284,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-07-26T10:31:35Z") AnnotationAssertion( "SNOMEDCT_US:71690006") AnnotationAssertion( "UMLS:C0268157") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased urinary galactose level") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased urinary galactose level") AnnotationAssertion( "HP:0012023") AnnotationAssertion(rdfs:label "Galactosuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -127335,7 +127328,7 @@ AnnotationAssertion( "SNOMEDCT_US:276426004") AnnotationAssertion( "SNOMEDCT_US:33985005") AnnotationAssertion( "UMLS:C0599035") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood ornithine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood ornithine levels") AnnotationAssertion( "HP:0012026") AnnotationAssertion(rdfs:label "Hyperornithinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -127390,7 +127383,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-27T01:30:44Z") AnnotationAssertion( "UMLS:C4023068") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine cortisol level") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine cortisol level") AnnotationAssertion( "HP:0012030") AnnotationAssertion(rdfs:label "Increased urinary cortisol level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -127422,8 +127415,8 @@ AnnotationAssertion( "SNOMEDCT_US:46720004") AnnotationAssertion( "SNOMEDCT_US:93163002") AnnotationAssertion( "UMLS:C0023798") -AnnotationAssertion(Annotation( ) "Fatty lump") -AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous fatty lump") +AnnotationAssertion(Annotation( ) "Fatty lump") +AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous fatty lump") AnnotationAssertion( "HP:0012032") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Lipoma") @@ -127482,7 +127475,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-27T01:55:38Z") AnnotationAssertion( "UMLS:C4023066") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of pec muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of pec muscles") AnnotationAssertion( "HP:0012037") AnnotationAssertion(rdfs:label "Pectoralis amyotrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -127533,7 +127526,7 @@ SubClassOf( ) AnnotationAssertion( "2012-07-30T06:50:19Z") AnnotationAssertion( "UMLS:C0151640") -AnnotationAssertion(Annotation( ) "Decreased fertility in males") +AnnotationAssertion(Annotation( ) "Decreased fertility in males") AnnotationAssertion( "HP:0012041") AnnotationAssertion(rdfs:label "Decreased fertility in males") SubClassOf( ) @@ -127546,7 +127539,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D055963") AnnotationAssertion( "SNOMEDCT_US:407674008") AnnotationAssertion( "UMLS:C1319853") -AnnotationAssertion(Annotation( ) "Aspirin-induced asthma") +AnnotationAssertion(Annotation( ) "Aspirin-induced asthma") AnnotationAssertion( "HP:0012042") AnnotationAssertion(rdfs:label "Aspirin-induced asthma") SubClassOf( ) @@ -127610,7 +127603,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D014786") AnnotationAssertion( "SNOMEDCT_US:399323001") AnnotationAssertion( "UMLS:C0018975") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Day blindness") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Day blindness") AnnotationAssertion( "HP:0012047") AnnotationAssertion(rdfs:label "Hemeralopia") SubClassOf( ) @@ -127664,7 +127657,7 @@ AnnotationAssertion( "SNOMEDCT_US:237638000") AnnotationAssertion( "SNOMEDCT_US:317006") AnnotationAssertion( "UMLS:C0271710") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar after a meal") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar after a meal") AnnotationAssertion( "Postprandial hypoglycemia") AnnotationAssertion( "HP:0012051") AnnotationAssertion(rdfs:comment "Reactive hypoglycemia may be the result of an exaggerated insulin response.") @@ -127811,8 +127804,8 @@ AnnotationAssertion( "SNOMEDCT_US:203467005") AnnotationAssertion( "SNOMEDCT_US:66954000") AnnotationAssertion( "UMLS:C0005937") -AnnotationAssertion(Annotation( ) "Bone cyst") -AnnotationAssertion(Annotation( ) "Bone cysts") +AnnotationAssertion(Annotation( ) "Bone cyst") +AnnotationAssertion(Annotation( ) "Bone cysts") AnnotationAssertion( "HP:0012062") AnnotationAssertion(rdfs:comment "Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture.") AnnotationAssertion(rdfs:label "Bone cyst") @@ -127849,7 +127842,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-08-03T02:45:09Z") AnnotationAssertion( "UMLS:C4023063") -AnnotationAssertion(Annotation( ) "Multiple bony cystic lesions") +AnnotationAssertion(Annotation( ) "Multiple bony cystic lesions") AnnotationAssertion( "HP:0012065") AnnotationAssertion(rdfs:label "Multiple bony cystic lesions") SubClassOf( ) @@ -127872,7 +127865,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-08-04T03:03:03Z") AnnotationAssertion( "UMLS:C4023061") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine glycopeptide levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine glycopeptide levels") AnnotationAssertion( "HP:0012067") AnnotationAssertion(rdfs:comment "This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties.") AnnotationAssertion(rdfs:label "Glycopeptiduria") @@ -127887,7 +127880,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D054880") AnnotationAssertion( "SNOMEDCT_US:54954004") AnnotationAssertion( "UMLS:C0268225") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine aspartylglucosamine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine aspartylglucosamine levels") AnnotationAssertion( "HP:0012068") AnnotationAssertion(rdfs:label "Aspartylglucosaminuria") SubClassOf( ) @@ -127937,7 +127930,7 @@ SubClassOf( ) "Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.") AnnotationAssertion( "SNOMEDCT_US:21806007") AnnotationAssertion( "UMLS:C0278026") -AnnotationAssertion(Annotation( ) "Acidic urine") +AnnotationAssertion(Annotation( ) "Acidic urine") AnnotationAssertion( "HP:0012072") AnnotationAssertion(rdfs:label "Aciduria") SubClassOf( ) @@ -128094,7 +128087,7 @@ AnnotationAssertion( "SNOMEDCT_US:275765006") AnnotationAssertion( "SNOMEDCT_US:4800001") AnnotationAssertion( "UMLS:C0034359") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine neutrophil count") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine neutrophil count") AnnotationAssertion( "Leukocyturia") AnnotationAssertion( "HP:0012085") AnnotationAssertion(rdfs:label "Pyuria") @@ -128109,9 +128102,9 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:102867009") AnnotationAssertion( "SNOMEDCT_US:167239007") AnnotationAssertion( "UMLS:C0522153") -AnnotationAssertion(Annotation( ) "Abnormal urinary color") -AnnotationAssertion(Annotation( ) "Abnormal urinary colour") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal urine color") +AnnotationAssertion(Annotation( ) "Abnormal urinary color") +AnnotationAssertion(Annotation( ) "Abnormal urinary colour") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal urine color") AnnotationAssertion(Annotation( ) "Abnormal urine colour") AnnotationAssertion( "HP:0012086") AnnotationAssertion(rdfs:label "Abnormal urinary color") @@ -128136,9 +128129,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-08-20T09:13:26Z") AnnotationAssertion( "SNOMEDCT_US:8769003") AnnotationAssertion( "UMLS:C0278045") -AnnotationAssertion(Annotation( ) "Abnormal urinary odor") -AnnotationAssertion(Annotation( ) "Abnormal urinary odour") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal urine smell") +AnnotationAssertion(Annotation( ) "Abnormal urinary odor") +AnnotationAssertion(Annotation( ) "Abnormal urinary odour") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal urine smell") AnnotationAssertion( "HP:0012088") AnnotationAssertion(rdfs:comment "Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine.") AnnotationAssertion(rdfs:label "Abnormal urinary odor") @@ -128152,7 +128145,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001167") AnnotationAssertion( "SNOMEDCT_US:52089001") AnnotationAssertion( "UMLS:C0003860") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of artery") AnnotationAssertion( "HP:0012089") AnnotationAssertion(rdfs:label "Arteritis") SubClassOf( ) @@ -128163,7 +128156,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-08-20T09:16:38Z") AnnotationAssertion( "UMLS:C4023049") AnnotationAssertion( "Abnormality of pancreas morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped pancreas") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped pancreas") AnnotationAssertion( "HP:0012090") AnnotationAssertion(rdfs:label "Abnormal pancreas morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -128210,7 +128203,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-08-20T09:19:08Z") AnnotationAssertion( "UMLS:C4023046") -AnnotationAssertion(Annotation( ) "Abnormal pancreas size") +AnnotationAssertion(Annotation( ) "Abnormal pancreas size") AnnotationAssertion( "HP:0012094") AnnotationAssertion(rdfs:label "Abnormal pancreas size") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -128283,9 +128276,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-08-22T08:40:14Z") AnnotationAssertion( "UMLS:C4021101") -AnnotationAssertion(Annotation( ) "Abnormal blood creatinine level") +AnnotationAssertion(Annotation( ) "Abnormal blood creatinine level") AnnotationAssertion( "Abnormal circulating creatinine level") -AnnotationAssertion(Annotation( ) "Creatinine levels abnormal") +AnnotationAssertion(Annotation( ) "Creatinine levels abnormal") AnnotationAssertion( "HP:0012100") AnnotationAssertion(rdfs:label "Abnormal circulating creatinine concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -128298,9 +128291,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-08-22T08:42:16Z") AnnotationAssertion( "SNOMEDCT_US:166715006") AnnotationAssertion( "UMLS:C0428282") -AnnotationAssertion(Annotation( ) "Decreased serum creatinine") -AnnotationAssertion(Annotation( ) "Low blood creatinine level") -AnnotationAssertion(Annotation( ) "Reduced creatinine levels") +AnnotationAssertion(Annotation( ) "Decreased serum creatinine") +AnnotationAssertion(Annotation( ) "Low blood creatinine level") +AnnotationAssertion(Annotation( ) "Reduced creatinine levels") AnnotationAssertion( "HP:0012101") AnnotationAssertion(rdfs:label "Decreased serum creatinine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -128369,7 +128362,7 @@ AnnotationAssertion( "UMLS:C4021100") AnnotationAssertion( "Thick fibula") AnnotationAssertion( "Thick fibulae") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide calf bone") AnnotationAssertion( "Wide fibula") AnnotationAssertion( "HP:0012107") AnnotationAssertion(rdfs:label "Increased fibular diameter") @@ -128449,8 +128442,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-09-16T04:29:41Z") AnnotationAssertion( "UMLS:C4020731") -AnnotationAssertion(Annotation( ) "Abnormality of creatine metabolism") -AnnotationAssertion(Annotation( ) "Creatine metabolism abnormal") +AnnotationAssertion(Annotation( ) "Abnormality of creatine metabolism") +AnnotationAssertion(Annotation( ) "Creatine metabolism abnormal") AnnotationAssertion( "HP:0012113") AnnotationAssertion(rdfs:label "Abnormal circulating creatine concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -128477,7 +128470,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D006505") AnnotationAssertion( "SNOMEDCT_US:128241005") AnnotationAssertion( "UMLS:C0019158") -AnnotationAssertion(Annotation( ) "Liver inflammation") +AnnotationAssertion(Annotation( ) "Liver inflammation") AnnotationAssertion( "HP:0012115") AnnotationAssertion(rdfs:label "Hepatitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -128490,7 +128483,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-09-16T05:14:53Z") AnnotationAssertion( "UMLS:C4023036") -AnnotationAssertion(Annotation( ) "Abnormal albumin level") +AnnotationAssertion(Annotation( ) "Abnormal albumin level") AnnotationAssertion( "HP:0012116") AnnotationAssertion(rdfs:label "Abnormal circulating albumin concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -128501,10 +128494,10 @@ SubClassOf( ) "Elevation in the concentration of albumin in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T05:15:41Z") -AnnotationAssertion(Annotation( ) "High albumin") +AnnotationAssertion(Annotation( ) "High albumin") AnnotationAssertion( "SNOMEDCT_US:119248009") AnnotationAssertion( "UMLS:C1142113") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood albumin levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood albumin levels") AnnotationAssertion( "Hyperalbuminaemia") AnnotationAssertion( "HP:0012117") AnnotationAssertion(rdfs:label "Hyperalbuminemia") @@ -128635,7 +128628,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-09-16T06:53:53Z") AnnotationAssertion( "UMLS:C4021833") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine uracil levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine uracil levels") AnnotationAssertion( "HP:0012127") AnnotationAssertion(rdfs:label "Uraciluria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -128914,7 +128907,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C0542037") AnnotationAssertion(Annotation( ) "Decreased circulating Tg levels") AnnotationAssertion(Annotation( ) "Decreased plasma Tg levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood triglyceride levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood triglyceride levels") AnnotationAssertion( "HP:0012153") AnnotationAssertion(rdfs:label "Hypotriglyceridemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -129126,7 +129119,7 @@ AnnotationAssertion( "MSH:D009259") AnnotationAssertion( "SNOMEDCT_US:37298006") AnnotationAssertion( "UMLS:C0027338") -AnnotationAssertion(Annotation( ) "Nail-biting") +AnnotationAssertion(Annotation( ) "Nail-biting") AnnotationAssertion( "Onychophagia") AnnotationAssertion( "Onychophagy") AnnotationAssertion( "HP:0012170") @@ -129246,12 +129239,12 @@ SubClassOf( ) "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-23T10:10:32Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal craniofacial posture") -AnnotationAssertion(Annotation( ) Annotation( ) "Distorted craniofacial posture") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal craniofacial posture") +AnnotationAssertion(Annotation( ) Annotation( ) "Distorted craniofacial posture") AnnotationAssertion( "UMLS:C1851915") AnnotationAssertion( "UMLS:C4023011") AnnotationAssertion( "UMLS:C4072883") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal craniofacial muscle tone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal craniofacial muscle tone") AnnotationAssertion(Annotation( ) "Abnormal facial muscle tone") AnnotationAssertion(Annotation( ) "Facial Dystonia") AnnotationAssertion( "HP:0012179") @@ -129318,7 +129311,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C564591") AnnotationAssertion( "SNOMEDCT_US:238080004") AnnotationAssertion( "UMLS:C0342883") -AnnotationAssertion(Annotation( ) "High blood HDL level") +AnnotationAssertion(Annotation( ) "High blood HDL level") AnnotationAssertion( "Hyperalphalipoproteinemia") AnnotationAssertion( "Increased circulating high-density lipoprotein levels") AnnotationAssertion( "HP:0012184") @@ -129597,7 +129590,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-03-12T12:23:21Z") AnnotationAssertion( "UMLS:C0855512") -AnnotationAssertion(Annotation( ) "Abnormal sperm motility") +AnnotationAssertion(Annotation( ) "Abnormal sperm motility") AnnotationAssertion( "Asthenospermia") AnnotationAssertion( "Asthenozoospermia") AnnotationAssertion( "HP:0012206") @@ -129611,7 +129604,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-03-12T12:23:59Z") AnnotationAssertion( "UMLS:C4023002") -AnnotationAssertion(Annotation( ) "Reduced sperm motility") +AnnotationAssertion(Annotation( ) "Reduced sperm motility") AnnotationAssertion( "HP:0012207") AnnotationAssertion(rdfs:label "Reduced sperm motility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -129656,12 +129649,12 @@ AnnotationAssertion( "SNOMEDCT_US:44513007") AnnotationAssertion( "UMLS:C0266292") AnnotationAssertion(Annotation( ) "Abnormal kidney morphology") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped kidney") -AnnotationAssertion(Annotation( ) "Kidney malformation") -AnnotationAssertion(Annotation( ) "Kidney structure issue") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped kidney") +AnnotationAssertion(Annotation( ) "Kidney malformation") +AnnotationAssertion(Annotation( ) "Kidney structure issue") AnnotationAssertion( "Renal malformation") AnnotationAssertion( "Structural anomalies of the renal tract") -AnnotationAssertion(Annotation( ) "Structural kidney abnormalities") +AnnotationAssertion(Annotation( ) "Structural kidney abnormalities") AnnotationAssertion( "Structural renal anomalies") AnnotationAssertion( "HP:0012210") AnnotationAssertion(rdfs:label "Abnormal renal morphology") @@ -129679,10 +129672,10 @@ AnnotationAssertion( "HP:0008646") AnnotationAssertion( "SNOMEDCT_US:39539005") AnnotationAssertion( "UMLS:C0151746") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kidney function") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal kidney function") AnnotationAssertion(Annotation( ) "Abnormal renal function") AnnotationAssertion( "Abnormality of renal physiology") -AnnotationAssertion(Annotation( ) "Kidney function issue") +AnnotationAssertion(Annotation( ) "Kidney function issue") AnnotationAssertion( "Renal functional abnormality") AnnotationAssertion( "HP:0012211") AnnotationAssertion(rdfs:label "Abnormal renal physiology") @@ -129832,8 +129825,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D013161") AnnotationAssertion( "SNOMEDCT_US:234506007") AnnotationAssertion( "UMLS:C0038000") -AnnotationAssertion(Annotation( ) "Ruptured spleen") -AnnotationAssertion(Annotation( ) "Splenic rupture") +AnnotationAssertion(Annotation( ) "Ruptured spleen") +AnnotationAssertion(Annotation( ) "Splenic rupture") AnnotationAssertion( "HP:0012223") AnnotationAssertion(rdfs:label "Splenic rupture") SubClassOf( ) @@ -129860,16 +129853,16 @@ AnnotationAssertion(Annotation( ) "Failure of development of some primary teeth") AnnotationAssertion(Annotation( ) "Partial anodontia of deciduous teeth") AnnotationAssertion(Annotation( ) "Partial anodontia of primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased number of baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased number of baby teeth") AnnotationAssertion(Annotation( ) "Decreased number of deciduous teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased number of milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased number of milk teeth") AnnotationAssertion(Annotation( ) "Decreased number of primary teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Fewer baby teeth than normal") +AnnotationAssertion(Annotation( ) Annotation( ) "Fewer baby teeth than normal") AnnotationAssertion(Annotation( ) "Fewer deciduous teeth than normal") AnnotationAssertion(Annotation( ) "Fewer primary teeth than normal") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing some baby teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing some milk teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing some primary teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing some baby teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing some milk teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing some primary teeth") AnnotationAssertion( "HP:0012225") AnnotationAssertion(rdfs:comment "Primary teeth are also called temporary teeth or deciduous teeth.") AnnotationAssertion(rdfs:label "Oligodontia of primary teeth") @@ -129912,7 +129905,7 @@ AnnotationAssertion( "SNOMEDCT_US:398057008") AnnotationAssertion( "SNOMEDCT_US:66551002") AnnotationAssertion( "UMLS:C0033893") -AnnotationAssertion(Annotation( ) "Tension-type headache") +AnnotationAssertion(Annotation( ) "Tension-type headache") AnnotationAssertion( "HP:0012228") AnnotationAssertion(rdfs:label "Tension-type headache") SubClassOf( ) @@ -130012,7 +130005,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C1856646") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated sweat Cl") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated sweat Cl-") -AnnotationAssertion(Annotation( ) "Elevated sweat chloride") +AnnotationAssertion(Annotation( ) "Elevated sweat chloride") AnnotationAssertion( "HP:0012236") AnnotationAssertion(rdfs:comment "Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases.") AnnotationAssertion(rdfs:label "Elevated sweat chloride") @@ -130027,7 +130020,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C536479") AnnotationAssertion( "SNOMEDCT_US:60952007") AnnotationAssertion( "UMLS:C0268514") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine urocanic acid levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine urocanic acid levels") AnnotationAssertion( "HP:0012237") AnnotationAssertion(rdfs:label "Urocanic aciduria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -130479,7 +130472,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-07T03:02:33Z") AnnotationAssertion( "UMLS:C4022974") -AnnotationAssertion(Annotation( ) "Trigger finger") +AnnotationAssertion(Annotation( ) "Trigger finger") AnnotationAssertion( "HP:0012276") AnnotationAssertion(rdfs:comment "Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly.") AnnotationAssertion(rdfs:label "Digital flexor tenosynovitis") @@ -130491,7 +130484,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-07T03:54:41Z") AnnotationAssertion( "UMLS:C4022973") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood glycine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood glycine levels") AnnotationAssertion( "HP:0012277") AnnotationAssertion(rdfs:label "Hypoglycinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -130514,7 +130507,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-07T03:57:25Z") AnnotationAssertion( "UMLS:C4022971") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood serine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood serine levels") AnnotationAssertion( "HP:0012279") AnnotationAssertion(rdfs:label "Hyposerinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -130564,7 +130557,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-09T07:33:19Z") AnnotationAssertion( "UMLS:C4022970") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of outermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of outermost thighbone") AnnotationAssertion( "HP:0012283") AnnotationAssertion(rdfs:label "Small distal femoral epiphysis") SubClassOf( ) @@ -130575,8 +130568,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-09T07:36:38Z") AnnotationAssertion( "UMLS:C4022969") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of innermost shankbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of innermost shinbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of innermost shankbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of innermost shinbone") AnnotationAssertion( "HP:0012284") AnnotationAssertion(rdfs:label "Small proximal tibial epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130604,7 +130597,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-04-09T07:53:16Z") AnnotationAssertion( "HP:0002443") AnnotationAssertion( "UMLS:C4021095") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of hypothalamus") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of hypothalamus") AnnotationAssertion( "Abnormality of hypothalamus morphology") AnnotationAssertion( "Abnormality of the hypothalamus") AnnotationAssertion( "HP:0012286") @@ -130633,7 +130626,7 @@ AnnotationAssertion( "SNOMEDCT_US:255056009") AnnotationAssertion( "UMLS:C0018671") AnnotationAssertion( "UMLS:C0278996") -AnnotationAssertion(Annotation( ) Annotation( ) "Head and neck tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Head and neck tumor") AnnotationAssertion(Annotation( ) "Head and neck tumour") AnnotationAssertion( "Head and neck cancer") AnnotationAssertion( "HP:0012288") @@ -130649,7 +130642,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126632002") AnnotationAssertion( "UMLS:C0015461") -AnnotationAssertion(Annotation( ) Annotation( ) "Face tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Face tumor") AnnotationAssertion(Annotation( ) "Face tumour") AnnotationAssertion( "HP:0012289") AnnotationAssertion(rdfs:label "Facial neoplasm") @@ -130679,12 +130672,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-11T05:52:35Z") AnnotationAssertion( "UMLS:C4022966") -AnnotationAssertion(Annotation( ) "Fusion of gums") +AnnotationAssertion(Annotation( ) "Fusion of gums") AnnotationAssertion(Annotation( ) "Fusion of the gingiva") AnnotationAssertion(Annotation( ) "Gingival synechia") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial fusion of the gums") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial fusion of the gums") AnnotationAssertion(Annotation( ) "Synechia of the gums") -AnnotationAssertion(Annotation( ) Annotation( ) "Upper and lower gums fused together") +AnnotationAssertion(Annotation( ) Annotation( ) "Upper and lower gums fused together") AnnotationAssertion( "HP:0012292") AnnotationAssertion(rdfs:label "Fusion of gums") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130719,7 +130712,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-12T05:40:22Z") AnnotationAssertion( "UMLS:C4022963") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender middle bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender middle bone of finger") AnnotationAssertion( "HP:0012295") AnnotationAssertion(rdfs:label "Slender middle phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130731,7 +130724,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-12T05:42:46Z") AnnotationAssertion( "UMLS:C4022962") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender outermost bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender outermost bone of finger") AnnotationAssertion( "HP:0012296") AnnotationAssertion(rdfs:label "Slender distal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130743,7 +130736,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-12T05:45:35Z") AnnotationAssertion( "UMLS:C4022961") -AnnotationAssertion(Annotation( ) Annotation( ) "Slender innermost bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Slender innermost bone of finger") AnnotationAssertion( "HP:0012297") AnnotationAssertion(rdfs:label "Slender proximal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130755,7 +130748,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-12T05:46:43Z") AnnotationAssertion( "UMLS:C4022960") -AnnotationAssertion(Annotation( ) Annotation( ) "Long middle bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Long middle bone of finger") AnnotationAssertion( "HP:0012298") AnnotationAssertion(rdfs:label "Long middle phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130767,7 +130760,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-12T05:48:52Z") AnnotationAssertion( "UMLS:C4021865") -AnnotationAssertion(Annotation( ) Annotation( ) "Long outermost bone of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Long outermost bone of finger") AnnotationAssertion( "HP:0012299") AnnotationAssertion(rdfs:label "Long distal phalanx of finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130837,7 +130830,7 @@ AnnotationAssertion( "SNOMEDCT_US:60787001") AnnotationAssertion( "UMLS:C0265881") AnnotationAssertion( "Aortic arch hypoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped aortic arch") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped aortic arch") AnnotationAssertion( "HP:0012304") AnnotationAssertion(rdfs:label "Hypoplastic aortic arch") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130860,7 +130853,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-08-10T09:31:03Z") AnnotationAssertion( "UMLS:C4022957") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of rib bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of rib bones") AnnotationAssertion( "HP:0012306") AnnotationAssertion(rdfs:label "Abnormal rib ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -130927,7 +130920,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-08-10T12:09:16Z") AnnotationAssertion( "SNOMEDCT_US:19636003") AnnotationAssertion( "UMLS:C0085702") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood monocyte number") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood monocyte number") AnnotationAssertion( "HP:0012311") AnnotationAssertion(rdfs:label "Monocytosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -130940,7 +130933,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-08-10T12:10:07Z") AnnotationAssertion( "SNOMEDCT_US:165539005") AnnotationAssertion( "UMLS:C0427544") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood monocyte number") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood monocyte number") AnnotationAssertion( "HP:0012312") AnnotationAssertion(rdfs:label "Monocytopenia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -131274,7 +131267,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-09-13T09:24:54Z") AnnotationAssertion( "UMLS:C4022949") -AnnotationAssertion(Annotation( ) "Abnormal energy expenditure") +AnnotationAssertion(Annotation( ) "Abnormal energy expenditure") AnnotationAssertion( "HP:0012338") AnnotationAssertion(rdfs:label "Abnormal energy expenditure") SubClassOf( ) @@ -131330,9 +131323,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-09-13T09:51:46Z") AnnotationAssertion( "UMLS:C0241012") AnnotationAssertion( "Decreased plasma ferritin") -AnnotationAssertion(Annotation( ) "Decreased serum ferritin") -AnnotationAssertion(Annotation( ) "Low ferritin level") -AnnotationAssertion(Annotation( ) "Reduced serum ferritin") +AnnotationAssertion(Annotation( ) "Decreased serum ferritin") +AnnotationAssertion(Annotation( ) "Low ferritin level") +AnnotationAssertion(Annotation( ) "Reduced serum ferritin") AnnotationAssertion( "HP:0012343") AnnotationAssertion(rdfs:comment "Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.") AnnotationAssertion(rdfs:label "Decreased circulating ferritin concentration") @@ -131606,9 +131599,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-10-13T01:49:13Z") AnnotationAssertion( "UMLS:C1853241") -AnnotationAssertion(Annotation( ) "Flat face") +AnnotationAssertion(Annotation( ) "Flat face") AnnotationAssertion(Annotation( ) "Flat facial profile") -AnnotationAssertion(Annotation( ) Annotation( ) "Flat facial shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Flat facial shape") AnnotationAssertion(Annotation( ) "Flat facies") AnnotationAssertion( "HP:0012368") AnnotationAssertion( ) @@ -131639,8 +131632,8 @@ AnnotationAssertion( "UMLS:C4082245") AnnotationAssertion( "Cheekbone prominence") AnnotationAssertion(Annotation( ) "Malar hypertrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominence of cheekbone") -AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominence of cheekbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Pronounced cheekbone") AnnotationAssertion(Annotation( ) "Hyperplasia of cheekbone") AnnotationAssertion(Annotation( ) "Hyperplasia of zygomatic bone") AnnotationAssertion(Annotation( ) "Zygomatic hypertrophy") @@ -131656,14 +131649,14 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-10-13T02:55:54Z") AnnotationAssertion( "HP:0010279") -AnnotationAssertion(Annotation( ) Annotation( ) "Big midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Large midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Big midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Large midface") AnnotationAssertion( "UMLS:C0240309") AnnotationAssertion(Annotation( ) "Midface hyperplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Midfacial excess") -AnnotationAssertion(Annotation( ) Annotation( ) "Midfacial prominence") +AnnotationAssertion(Annotation( ) Annotation( ) "Midfacial excess") +AnnotationAssertion(Annotation( ) Annotation( ) "Midfacial prominence") AnnotationAssertion(Annotation( ) "Hypertrophy of midface") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the midface") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the midface") AnnotationAssertion( "HP:0012371") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia.") @@ -131680,9 +131673,9 @@ AnnotationAssertion( "HP:0012374") AnnotationAssertion( "Fyler:4863") AnnotationAssertion( "UMLS:C4022925") -AnnotationAssertion(Annotation( ) "Abnormal eye structure") +AnnotationAssertion(Annotation( ) "Abnormal eye structure") AnnotationAssertion( "Abnormality of the globe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped eye") AnnotationAssertion( "HP:0012372") AnnotationAssertion(rdfs:comment "previously: Abnormal globe morphology") AnnotationAssertion(rdfs:label "Abnormal eye morphology") @@ -131695,7 +131688,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-10-13T03:45:37Z") AnnotationAssertion( "UMLS:C4022924") -AnnotationAssertion(Annotation( ) "Abnormal eye physiology") +AnnotationAssertion(Annotation( ) "Abnormal eye physiology") AnnotationAssertion( "HP:0012373") AnnotationAssertion(rdfs:label "Abnormal eye physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -131726,7 +131719,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-10-13T06:11:11Z") AnnotationAssertion( "SNOMEDCT_US:35272001") AnnotationAssertion( "UMLS:C0266541") -AnnotationAssertion(Annotation( ) Annotation( ) "Small lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Small lens") AnnotationAssertion( "HP:0012376") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Microphakia") @@ -131754,9 +131747,9 @@ AnnotationAssertion( "SNOMEDCT_US:248274002") AnnotationAssertion( "SNOMEDCT_US:84229001") AnnotationAssertion( "UMLS:C0015672") -AnnotationAssertion(Annotation( ) "Fatigue") -AnnotationAssertion(Annotation( ) "Tired") -AnnotationAssertion(Annotation( ) "Tiredness") +AnnotationAssertion(Annotation( ) "Fatigue") +AnnotationAssertion(Annotation( ) "Tired") +AnnotationAssertion(Annotation( ) "Tiredness") AnnotationAssertion( "HP:0012378") AnnotationAssertion(rdfs:comment "Fatigue is distinct from muscle weakness.") AnnotationAssertion(rdfs:label "Fatigue") @@ -131824,7 +131817,7 @@ AnnotationAssertion( "SNOMEDCT_US:70076002") AnnotationAssertion( "UMLS:C0035455") AnnotationAssertion( "UMLS:C2718128") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal inflammation") AnnotationAssertion( "HP:0012384") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Rhinitis") @@ -131837,7 +131830,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-10-20T08:08:19Z") AnnotationAssertion( "SNOMEDCT_US:29271008") AnnotationAssertion( "UMLS:C0685409") -AnnotationAssertion(Annotation( ) Annotation( ) "Permanent flexion of the finger or toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Permanent flexion of the finger or toe") AnnotationAssertion( "HP:0012385") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Camptodactyly") @@ -131849,10 +131842,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-10-20T12:03:14Z") AnnotationAssertion( "UMLS:C1841686") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent big toe") AnnotationAssertion( "Agenesis of the halluces") AnnotationAssertion( "Aplasia of the hallux") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing big toe") AnnotationAssertion( "HP:0012386") AnnotationAssertion(rdfs:label "Absent hallux") SubClassOf( ) @@ -131939,7 +131932,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D006967") AnnotationAssertion( "SNOMEDCT_US:419076005") AnnotationAssertion( "UMLS:C1527304") -AnnotationAssertion(Annotation( ) "Allergy") +AnnotationAssertion(Annotation( ) "Allergy") AnnotationAssertion( "HP:0012393") AnnotationAssertion(rdfs:label "Allergy") SubClassOf( ) @@ -131965,7 +131958,7 @@ AnnotationAssertion( "SNOMEDCT_US:367498001") AnnotationAssertion( "SNOMEDCT_US:444316004") AnnotationAssertion( "UMLS:C0018621") -AnnotationAssertion(Annotation( ) "Seasonal allergy") +AnnotationAssertion(Annotation( ) "Seasonal allergy") AnnotationAssertion( "HP:0012395") AnnotationAssertion(rdfs:label "Seasonal allergy") SubClassOf( ) @@ -132020,10 +132013,10 @@ AnnotationAssertion( "SNOMEDCT_US:399912005") AnnotationAssertion( "SNOMEDCT_US:420226006") AnnotationAssertion( "UMLS:C0011127") -AnnotationAssertion(Annotation( ) "Bedsore") +AnnotationAssertion(Annotation( ) "Bedsore") AnnotationAssertion( "Decubitus Ulcer") -AnnotationAssertion(Annotation( ) "Pressure Sore") -AnnotationAssertion(Annotation( ) "Pressure ulcer") +AnnotationAssertion(Annotation( ) "Pressure Sore") +AnnotationAssertion(Annotation( ) "Pressure ulcer") AnnotationAssertion( "HP:0012399") AnnotationAssertion(rdfs:comment "Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound.") AnnotationAssertion(rdfs:label "Pressure ulcer") @@ -132062,7 +132055,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-11-09T03:48:37Z") AnnotationAssertion( "UMLS:C4022915") AnnotationAssertion( "Elevated urinary 2-oxoglutarate") -AnnotationAssertion(Annotation( ) "Increased urine alpha-ketoglutarate concentration") +AnnotationAssertion(Annotation( ) "Increased urine alpha-ketoglutarate concentration") AnnotationAssertion( "HP:0012402") AnnotationAssertion(rdfs:comment "Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.") AnnotationAssertion(rdfs:label "Increased urine alpha-ketoglutarate concentration") @@ -132088,7 +132081,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-09T03:51:30Z") AnnotationAssertion( "UMLS:C4022913") -AnnotationAssertion(Annotation( ) "Abnormal urine citrate concentration") +AnnotationAssertion(Annotation( ) "Abnormal urine citrate concentration") AnnotationAssertion( "Abnormal urine citric acid concentration") AnnotationAssertion( "HP:0012404") AnnotationAssertion(rdfs:label "Abnormal urine citrate concentration") @@ -132127,9 +132120,9 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:22090007") AnnotationAssertion( "UMLS:C0231698") -AnnotationAssertion(Annotation( ) "Scissor gait") -AnnotationAssertion(Annotation( ) Annotation( ) "Scissor walk") -AnnotationAssertion(Annotation( ) Annotation( ) "Scissors gait") +AnnotationAssertion(Annotation( ) "Scissor gait") +AnnotationAssertion(Annotation( ) Annotation( ) "Scissor walk") +AnnotationAssertion(Annotation( ) Annotation( ) "Scissors gait") AnnotationAssertion( "HP:0012407") AnnotationAssertion(rdfs:comment "Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy.") AnnotationAssertion(rdfs:label "Scissor gait") @@ -132178,7 +132171,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-11-10T11:50:16Z") AnnotationAssertion( "SNOMEDCT_US:237815000") AnnotationAssertion( "UMLS:C0342541") -AnnotationAssertion(Annotation( ) Annotation( ) "Premature pubic hair growth") +AnnotationAssertion(Annotation( ) Annotation( ) "Premature pubic hair growth") AnnotationAssertion( "HP:0012411") AnnotationAssertion(rdfs:label "Premature pubarche") SubClassOf( ) @@ -132206,7 +132199,7 @@ AnnotationAssertion( "UMLS:C0020186") AnnotationAssertion( "UMLS:C1444627") AnnotationAssertion( "UMLS:C4022912") -AnnotationAssertion(Annotation( ) Annotation( ) "Notched front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Notched front baby tooth") AnnotationAssertion(Annotation( ) "Notched front deciduous tooth") AnnotationAssertion(Annotation( ) "Notched front primary tooth") AnnotationAssertion(Annotation( ) "Syphilitic primary incisor") @@ -132231,7 +132224,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-11-10T04:59:20Z") AnnotationAssertion( "SNOMEDCT_US:312391003") AnnotationAssertion( "UMLS:C0476337") -AnnotationAssertion(Annotation( ) "Abnormal blood gas level") +AnnotationAssertion(Annotation( ) "Abnormal blood gas level") AnnotationAssertion( "HP:0012415") AnnotationAssertion(rdfs:label "Abnormal blood gas level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -132245,7 +132238,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D006935") AnnotationAssertion( "SNOMEDCT_US:29596007") AnnotationAssertion( "UMLS:C0020440") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood carbon dioxide level") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood carbon dioxide level") AnnotationAssertion( "Hypercarbia") AnnotationAssertion( "HP:0012416") AnnotationAssertion(rdfs:label "Hypercapnia") @@ -132261,7 +132254,7 @@ AnnotationAssertion( "SNOMEDCT_US:61031008") AnnotationAssertion( "UMLS:C0085383") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/hypocapnia") "Hypocarbia") -AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/hypocapnia") Annotation( ) "Reduced carbon dioxide in the blood") +AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/hypocapnia") Annotation( ) "Reduced carbon dioxide in the blood") AnnotationAssertion( "HP:0012417") AnnotationAssertion(rdfs:label "Hypocapnia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -132275,7 +132268,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D000860") AnnotationAssertion( "SNOMEDCT_US:389087006") AnnotationAssertion( "UMLS:C0700292") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood oxygen level") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood oxygen level") AnnotationAssertion(Annotation( ) "Hypoxia") AnnotationAssertion( "HP:0012418") AnnotationAssertion(rdfs:comment "Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value.") @@ -132369,7 +132362,7 @@ SubClassOf( ) Annotation( "PMID:7065551") "An ulcer of the colon due to pressure and irritation from retained fecal masses.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-12T10:28:18Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Colon ulcer") +AnnotationAssertion(Annotation( ) Annotation( ) "Colon ulcer") AnnotationAssertion( "SNOMEDCT_US:235766003") AnnotationAssertion( "SNOMEDCT_US:38084005") AnnotationAssertion( "SNOMEDCT_US:46040000") @@ -132406,7 +132399,7 @@ AnnotationAssertion( "UMLS:C4022909") AnnotationAssertion( "Excessive femoral anteversion") AnnotationAssertion( "Increased femoral neck anteversion") -AnnotationAssertion(Annotation( ) "Internally rotated hips") +AnnotationAssertion(Annotation( ) "Internally rotated hips") AnnotationAssertion( "HP:0012427") AnnotationAssertion(rdfs:comment "Femoral neck anteversion (FNA), also called femoral torsion or femoral version, is the angle between the projection of two lines in the axial plane perpendicular to the femoral shaft; one line going through the proximal femoral neck region and the second one through the distal condylar region, indicating the degree of twist of the femur. Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. See Figure 1 of PMID:32579722.") AnnotationAssertion(rdfs:label "Increased femoral anteversion") @@ -132418,7 +132411,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-12T11:04:49Z") AnnotationAssertion( "UMLS:C4021088") -AnnotationAssertion(Annotation( ) "Prominent heel bone") +AnnotationAssertion(Annotation( ) "Prominent heel bone") AnnotationAssertion( "HP:0012428") AnnotationAssertion(rdfs:label "Prominent calcaneus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -132430,8 +132423,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-13T07:39:37Z") AnnotationAssertion( "UMLS:C4021844") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cerebral white matter") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cerebral white matter") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small cerebral white matter") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped cerebral white matter") AnnotationAssertion( "HP:0012429") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the cerebral white matter") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -132466,8 +132459,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-13T07:49:08Z") AnnotationAssertion( "UMLS:C0518656") -AnnotationAssertion(Annotation( ) "Chronic extreme exhaustion") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic fatigue") +AnnotationAssertion(Annotation( ) "Chronic extreme exhaustion") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic fatigue") AnnotationAssertion( "HP:0012432") AnnotationAssertion(rdfs:comment "Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities.") AnnotationAssertion(rdfs:label "Chronic fatigue") @@ -132484,8 +132477,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-11-23T08:37:01Z") AnnotationAssertion( "UMLS:C4020726") AnnotationAssertion( "UMLS:C4021087") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Abnormal social behavior") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Abnormal social behaviour") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Abnormal social behavior") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Abnormal social behaviour") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Abnormal social interactions") AnnotationAssertion( "HP:0012433") AnnotationAssertion(rdfs:label "Abnormal social behavior") @@ -132497,7 +132490,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-23T08:40:29Z") AnnotationAssertion( "UMLS:C4022906") -AnnotationAssertion(Annotation( ) "Delayed social development") +AnnotationAssertion(Annotation( ) "Delayed social development") AnnotationAssertion( "HP:0012434") AnnotationAssertion(rdfs:comment "This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers.") AnnotationAssertion(rdfs:label "Delayed social development") @@ -132535,8 +132528,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-23T01:13:40Z") AnnotationAssertion( "UMLS:C4022904") -AnnotationAssertion(Annotation( ) "Abnormal gallbladder structure") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of gallbladder") +AnnotationAssertion(Annotation( ) "Abnormal gallbladder structure") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of gallbladder") AnnotationAssertion( "HP:0012437") AnnotationAssertion(rdfs:label "Abnormal gallbladder morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -132609,8 +132602,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-23T02:38:00Z") AnnotationAssertion( "UMLS:C4021085") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of brain") -AnnotationAssertion(Annotation( ) "Abnormality of the brain") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of brain") +AnnotationAssertion(Annotation( ) "Abnormality of the brain") AnnotationAssertion( "HP:0012443") AnnotationAssertion(rdfs:label "Abnormality of brain morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -132626,8 +132619,8 @@ AnnotationAssertion( "SNOMEDCT_US:52522001") AnnotationAssertion( "UMLS:C0154671") AnnotationAssertion( "UMLS:C0235946") -AnnotationAssertion(Annotation( ) Annotation( ) "Brain degeneration") -AnnotationAssertion(Annotation( ) Annotation( ) "Brain wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Brain degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Brain wasting") AnnotationAssertion( "HP:0012444") AnnotationAssertion(rdfs:label "Brain atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -132693,8 +132686,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-11-23T04:03:43Z") AnnotationAssertion( "SNOMEDCT_US:236069009") AnnotationAssertion( "UMLS:C0401149") -AnnotationAssertion(Annotation( ) "Chronic constipation") -AnnotationAssertion(Annotation( ) Annotation( ) "Infrequent bowel movements") +AnnotationAssertion(Annotation( ) "Chronic constipation") +AnnotationAssertion(Annotation( ) Annotation( ) "Infrequent bowel movements") AnnotationAssertion( "HP:0012450") AnnotationAssertion(rdfs:label "Chronic constipation") SubClassOf( ) @@ -132719,7 +132712,7 @@ AnnotationAssertion( "SNOMEDCT_US:32914008") AnnotationAssertion( "UMLS:C0035258") AnnotationAssertion( "Restless legs syndrome") -AnnotationAssertion(Annotation( ) "Willis-Ekbom disease") +AnnotationAssertion(Annotation( ) "Willis-Ekbom disease") AnnotationAssertion( "Wittmaack-Ekbom syndrome") AnnotationAssertion( "HP:0012452") AnnotationAssertion(rdfs:comment "Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence.") @@ -132799,7 +132792,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D051270") AnnotationAssertion( "SNOMEDCT_US:122711000119109") AnnotationAssertion( "UMLS:C0752150") -AnnotationAssertion(Annotation( ) "Alarm clock headache") +AnnotationAssertion(Annotation( ) "Alarm clock headache") AnnotationAssertion( "HP:0012459") AnnotationAssertion(rdfs:comment "Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes.") AnnotationAssertion(rdfs:label "Hypnic headache") @@ -132823,8 +132816,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001437") AnnotationAssertion( "SNOMEDCT_US:61373006") AnnotationAssertion( "UMLS:C0004659") -AnnotationAssertion(Annotation( ) Annotation( ) "Bacteria in urine") -AnnotationAssertion(Annotation( ) "High urine bacteria") +AnnotationAssertion(Annotation( ) Annotation( ) "Bacteria in urine") +AnnotationAssertion(Annotation( ) "High urine bacteria") AnnotationAssertion( "HP:0012461") AnnotationAssertion(rdfs:comment "The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection.") AnnotationAssertion(rdfs:label "Bacteriuria") @@ -132871,7 +132864,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-24T12:54:57Z") AnnotationAssertion( "UMLS:C4022891") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased iron concentration in liver") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased iron concentration in liver") AnnotationAssertion(Annotation( ) "Increased liver iron level") AnnotationAssertion( "HP:0012465") AnnotationAssertion(rdfs:comment "This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging.") @@ -132930,10 +132923,10 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:63342001") AnnotationAssertion( "UMLS:C0423128") AnnotationAssertion( "UMLS:C4020721") -AnnotationAssertion(Annotation( ) "Setting-sun eye phenomenon") -AnnotationAssertion(Annotation( ) "Sun setting eyes") -AnnotationAssertion(Annotation( ) "Sunsetting eye") -AnnotationAssertion(Annotation( ) "Eyes fixed downward") +AnnotationAssertion(Annotation( ) "Setting-sun eye phenomenon") +AnnotationAssertion(Annotation( ) "Sun setting eyes") +AnnotationAssertion(Annotation( ) "Sunsetting eye") +AnnotationAssertion(Annotation( ) "Eyes fixed downward") AnnotationAssertion( "HP:0012470") AnnotationAssertion(rdfs:comment "Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure.") AnnotationAssertion(rdfs:label "Setting-sun eye phenomenon") @@ -132945,12 +132938,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-26T09:07:51Z") AnnotationAssertion( "UMLS:C1836543") -AnnotationAssertion(Annotation( ) "Full lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of lip") +AnnotationAssertion(Annotation( ) "Full lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased volume of lip") AnnotationAssertion(Annotation( ) "Increased volume of lip vermillion") -AnnotationAssertion(Annotation( ) Annotation( ) "Plump lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent lips") -AnnotationAssertion(Annotation( ) "Thick lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Plump lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent lips") +AnnotationAssertion(Annotation( ) "Thick lips") AnnotationAssertion( "HP:0012471") AnnotationAssertion(rdfs:label "Thick vermilion border") SubClassOf( ) @@ -132963,7 +132956,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C3550430") AnnotationAssertion( "Eclabium") AnnotationAssertion(Annotation( ) "Everted lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Outward turned lips") AnnotationAssertion( "HP:0012472") AnnotationAssertion(rdfs:label "Eclabion") SubClassOf( ) @@ -132980,7 +132973,7 @@ AnnotationAssertion( "Atrophy of the tongue") AnnotationAssertion(Annotation( ) "Lingual atrophy") AnnotationAssertion(Annotation( ) "Lingual wasting") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of the tongue") AnnotationAssertion( "HP:0012473") AnnotationAssertion(rdfs:label "Tongue atrophy") SubClassOf( ) @@ -132993,7 +132986,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:266254007") AnnotationAssertion( "SNOMEDCT_US:69798007") AnnotationAssertion( "UMLS:C0265101") -AnnotationAssertion(Annotation( ) Annotation( ) "Obstructed carotid artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Obstructed carotid artery") AnnotationAssertion( "HP:0012474") AnnotationAssertion(rdfs:comment "Carotid artery occlusion is usually caused by caused by atherosclerosis.") AnnotationAssertion(rdfs:label "Carotid artery occlusion") @@ -133032,8 +133025,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-28T07:11:37Z") AnnotationAssertion( "UMLS:C4022889") -AnnotationAssertion(Annotation( ) Annotation( ) "Shakey voice") -AnnotationAssertion(Annotation( ) "Vocal tremor") +AnnotationAssertion(Annotation( ) Annotation( ) "Shakey voice") +AnnotationAssertion(Annotation( ) "Vocal tremor") AnnotationAssertion( "HP:0012477") AnnotationAssertion(rdfs:label "Vocal tremor") SubClassOf( ) @@ -133051,11 +133044,11 @@ AnnotationAssertion( "UMLS:C0685924") AnnotationAssertion( "UMLS:C2931375") AnnotationAssertion(Annotation( ) Annotation( ) "Ankylosis of temporomandibular joint") -AnnotationAssertion(Annotation( ) "Freezing of jaw joint") +AnnotationAssertion(Annotation( ) "Freezing of jaw joint") AnnotationAssertion(Annotation( ) "Freezing of the temporomandibular joint") AnnotationAssertion(Annotation( ) "Rigidity of the temporomandibular joint") AnnotationAssertion( "Temporomandibular joint fusion") -AnnotationAssertion(Annotation( ) Annotation( ) "Adhesion of the temporomandibular joint") +AnnotationAssertion(Annotation( ) Annotation( ) "Adhesion of the temporomandibular joint") AnnotationAssertion( "HP:0012478") AnnotationAssertion(rdfs:label "Temporomandibular joint ankylosis") SubClassOf( ) @@ -133065,8 +133058,8 @@ SubClassOf( ) "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-28T07:28:13Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint noise") -AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint sounds") +AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint noise") +AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint sounds") AnnotationAssertion(Annotation( ) "Temporomandibular joint noise") AnnotationAssertion(Annotation( ) "Temporomandibular joint sounds") AnnotationAssertion( "SNOMEDCT_US:298377005") @@ -133075,9 +133068,9 @@ AnnotationAssertion( "UMLS:C4280314") AnnotationAssertion( "UMLS:C4280315") AnnotationAssertion(Annotation( ) "Jaw joint crepitus") -AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint clicking sound") -AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint grating sound") -AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint popping sound") +AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint clicking sound") +AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint grating sound") +AnnotationAssertion(Annotation( ) Annotation( ) "Jaw joint popping sound") AnnotationAssertion(Annotation( ) "Temporomandibular joint clicking sound") AnnotationAssertion(Annotation( ) "Temporomandibular joint grating sound") AnnotationAssertion(Annotation( ) "Temporomandibular joint popping sound") @@ -133160,7 +133153,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D009187") AnnotationAssertion( "SNOMEDCT_US:41370002") AnnotationAssertion( "UMLS:C0026975") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of spinal cord") AnnotationAssertion( "HP:0012486") AnnotationAssertion(rdfs:label "Myelitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -133212,7 +133205,7 @@ AnnotationAssertion( "SNOMEDCT_US:22125009") AnnotationAssertion( "UMLS:C0030326") AnnotationAssertion(Annotation( ) "Inflammation of adipose tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of fat tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of fat tissue") AnnotationAssertion( "HP:0012490") AnnotationAssertion(rdfs:comment "Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules.") AnnotationAssertion(rdfs:label "Panniculitis") @@ -133237,7 +133230,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-30T08:00:55Z") AnnotationAssertion( "UMLS:C1504438") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of a cerebral artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of a cerebral artery") AnnotationAssertion( "HP:0012492") AnnotationAssertion(rdfs:label "Cerebral artery stenosis") SubClassOf( ) @@ -133478,7 +133471,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-12-08T09:07:11Z") AnnotationAssertion( "SNOMEDCT_US:102556003") AnnotationAssertion( "UMLS:C0239377") -AnnotationAssertion(Annotation( ) "Upper limb pain") +AnnotationAssertion(Annotation( ) "Upper limb pain") AnnotationAssertion( "HP:0012513") AnnotationAssertion(rdfs:label "Upper limb pain") SubClassOf( ) @@ -133490,8 +133483,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-12-08T09:10:29Z") AnnotationAssertion( "SNOMEDCT_US:10601006") AnnotationAssertion( "UMLS:C0023222") -AnnotationAssertion(Annotation( ) "Leg pain") -AnnotationAssertion(Annotation( ) "Lower limb pain") +AnnotationAssertion(Annotation( ) "Leg pain") +AnnotationAssertion(Annotation( ) "Lower limb pain") AnnotationAssertion( "HP:0012514") AnnotationAssertion(rdfs:label "Lower limb pain") SubClassOf( ) @@ -133687,7 +133680,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D010146") AnnotationAssertion( "SNOMEDCT_US:22253000") AnnotationAssertion( "UMLS:C0030193") -AnnotationAssertion(Annotation( ) "Pain") +AnnotationAssertion(Annotation( ) "Pain") AnnotationAssertion( "HP:0012531") AnnotationAssertion(rdfs:label "Pain") SubClassOf( ) @@ -133700,8 +133693,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D059350") AnnotationAssertion( "SNOMEDCT_US:82423001") AnnotationAssertion( "UMLS:C0150055") -AnnotationAssertion(Annotation( ) "Chronic pain") -AnnotationAssertion(Annotation( ) Annotation( ) "Long-lasting pain") +AnnotationAssertion(Annotation( ) "Chronic pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Long-lasting pain") AnnotationAssertion( "HP:0012532") AnnotationAssertion(rdfs:comment "Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing.") AnnotationAssertion(rdfs:label "Chronic pain") @@ -133766,7 +133759,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-12-15T10:25:19Z") AnnotationAssertion( "SNOMEDCT_US:235719002") AnnotationAssertion( "UMLS:C0149696") -AnnotationAssertion(Annotation( ) "Food intolerance") +AnnotationAssertion(Annotation( ) "Food intolerance") AnnotationAssertion( "Non-allergic food hypersensitivity") AnnotationAssertion( "HP:0012537") AnnotationAssertion(rdfs:label "Food intolerance") @@ -133782,8 +133775,8 @@ AnnotationAssertion( "SNOMEDCT_US:441831003") AnnotationAssertion( "UMLS:C0007570") AnnotationAssertion( "UMLS:C0850024") -AnnotationAssertion(Annotation( ) "Gluten intolerance") -AnnotationAssertion(Annotation( ) Annotation( ) "Gluten sensitivity") +AnnotationAssertion(Annotation( ) "Gluten intolerance") +AnnotationAssertion(Annotation( ) Annotation( ) "Gluten sensitivity") AnnotationAssertion( "HP:0012538") AnnotationAssertion(rdfs:label "Gluten intolerance") SubClassOf( ) @@ -133809,7 +133802,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-12-15T10:35:39Z") AnnotationAssertion( "UMLS:C4022859") -AnnotationAssertion(Annotation( ) Annotation( ) "Armpit cyst") +AnnotationAssertion(Annotation( ) Annotation( ) "Armpit cyst") AnnotationAssertion( "HP:0012540") AnnotationAssertion(rdfs:label "Axillary epidermoid cyst") SubClassOf( ) @@ -133958,8 +133951,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-04T12:57:28Z") AnnotationAssertion( "UMLS:C4022850") -AnnotationAssertion(Annotation( ) Annotation( ) "Small thumbnail") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped thumbnail") +AnnotationAssertion(Annotation( ) Annotation( ) "Small thumbnail") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped thumbnail") AnnotationAssertion( "HP:0012553") AnnotationAssertion(rdfs:label "Hypoplastic thumbnail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -133982,8 +133975,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-04T01:06:39Z") AnnotationAssertion( "UMLS:C4021081") -AnnotationAssertion(Annotation( ) "Absent big toe nail") -AnnotationAssertion(Annotation( ) "Absent nail of big toe") +AnnotationAssertion(Annotation( ) "Absent big toe nail") +AnnotationAssertion(Annotation( ) "Absent nail of big toe") AnnotationAssertion( "HP:0012555") AnnotationAssertion(rdfs:label "Absent nail of hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -133995,7 +133988,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-04T01:37:23Z") AnnotationAssertion( "UMLS:C4021080") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood beta-alanine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood beta-alanine levels") AnnotationAssertion( "Hyperbetaalaninemia") AnnotationAssertion( "HP:0012556") AnnotationAssertion(rdfs:label "Hyperbeta-alaninemia") @@ -134124,10 +134117,10 @@ AnnotationAssertion( "UMLS:C2025810") AnnotationAssertion( "UMLS:C3839997") AnnotationAssertion(Annotation( ) "Cellulitis of lower eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Fullness of lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Fullness of lower eyelid") AnnotationAssertion(Annotation( ) "Lower eyelid oedema") -AnnotationAssertion(Annotation( ) Annotation( ) "Puffiness of lower eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Puffiness of lower eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of lower eyelid") AnnotationAssertion( "HP:0012568") AnnotationAssertion(rdfs:label "Lower eyelid edema") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -134139,7 +134132,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-08T08:20:18Z") AnnotationAssertion( "UMLS:C0949173") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed start of first period") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed start of first period") AnnotationAssertion( "HP:0012569") AnnotationAssertion(rdfs:label "Delayed menarche") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -134295,7 +134288,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:77945009") AnnotationAssertion( "UMLS:C0268800") AnnotationAssertion( "UMLS:C4022836") -AnnotationAssertion(Annotation( ) Annotation( ) "Simple kidney cyst") +AnnotationAssertion(Annotation( ) Annotation( ) "Simple kidney cyst") AnnotationAssertion( "Solitary renal cyst") AnnotationAssertion( "single cortical cyst") AnnotationAssertion( "HP:0012581") @@ -134320,8 +134313,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-01-16T03:15:30Z") AnnotationAssertion( "SNOMEDCT_US:204948009") AnnotationAssertion( "UMLS:C0431691") -AnnotationAssertion(Annotation( ) Annotation( ) "Small kidney on one side") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped kidney on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Small kidney on one side") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped kidney on one side") AnnotationAssertion( "HP:0012583") AnnotationAssertion(rdfs:label "Unilateral renal hypoplasia") SubClassOf( ) @@ -134344,7 +134337,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-01-16T03:21:19Z") AnnotationAssertion( "SNOMEDCT_US:197659005") AnnotationAssertion( "UMLS:C0341698") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney degeneration") AnnotationAssertion( "HP:0012585") AnnotationAssertion(rdfs:label "Renal atrophy") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -134369,7 +134362,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-01-16T03:31:44Z") AnnotationAssertion( "SNOMEDCT_US:197941005") AnnotationAssertion( "UMLS:C0473237") -AnnotationAssertion(Annotation( ) Annotation( ) "Bloody urine") +AnnotationAssertion(Annotation( ) Annotation( ) "Bloody urine") AnnotationAssertion(Annotation( ) "Gross hematuria") AnnotationAssertion( "HP:0012587") AnnotationAssertion(rdfs:label "Macroscopic hematuria") @@ -134452,7 +134445,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:312975006") AnnotationAssertion( "UMLS:C0730345") AnnotationAssertion( "UMLS:C1654921") -AnnotationAssertion(Annotation( ) Annotation( ) "High urine albumin levels") +AnnotationAssertion(Annotation( ) Annotation( ) "High urine albumin levels") AnnotationAssertion( "Microalbuminuria") AnnotationAssertion( "HP:0012594") AnnotationAssertion(rdfs:label "Moderate albuminuria") @@ -134484,7 +134477,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-16T05:56:38Z") AnnotationAssertion( "UMLS:C4022830") -AnnotationAssertion(Annotation( ) Annotation( ) "Severly high blood protein levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Severly high blood protein levels") AnnotationAssertion( "HP:0012597") AnnotationAssertion(rdfs:label "Heavy proteinuria") SubClassOf( ) @@ -134532,7 +134525,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-01-16T06:17:06Z") AnnotationAssertion( "UMLS:C4021078") AnnotationAssertion( "Decreased urinary chloride") -AnnotationAssertion(Annotation( ) Annotation( ) "Low urine chloride levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low urine chloride levels") AnnotationAssertion( "HP:0012601") AnnotationAssertion(rdfs:label "Hypochloriduria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -134570,7 +134563,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-16T06:22:09Z") AnnotationAssertion( "UMLS:C4022824") -AnnotationAssertion(Annotation( ) Annotation( ) "Low urine sodium levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low urine sodium levels") AnnotationAssertion( "HP:0012604") AnnotationAssertion(rdfs:label "Hyponatriuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -134608,7 +134601,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-17T11:37:50Z") AnnotationAssertion( "UMLS:C4022823") -AnnotationAssertion(Annotation( ) "Abnormal urine magnesium concentration") +AnnotationAssertion(Annotation( ) "Abnormal urine magnesium concentration") AnnotationAssertion( "HP:0012607") AnnotationAssertion(rdfs:label "Abnormal urine magnesium concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -134631,8 +134624,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-17T11:39:31Z") AnnotationAssertion( "UMLS:C3203528") -AnnotationAssertion(Annotation( ) "Decreased urine magnesium") -AnnotationAssertion(Annotation( ) Annotation( ) "Low urine magnesium levels") +AnnotationAssertion(Annotation( ) "Decreased urine magnesium") +AnnotationAssertion(Annotation( ) Annotation( ) "Low urine magnesium levels") AnnotationAssertion( "HP:0012609") AnnotationAssertion(rdfs:label "Hypomagnesiuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -134749,7 +134742,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-17T12:21:05Z") AnnotationAssertion( "UMLS:C4022817") -AnnotationAssertion(Annotation( ) Annotation( ) "Multiple pouches in bladder wall") +AnnotationAssertion(Annotation( ) Annotation( ) "Multiple pouches in bladder wall") AnnotationAssertion( "HP:0012619") AnnotationAssertion(rdfs:label "Multiple bladder diverticula") SubClassOf( ) @@ -134790,7 +134783,7 @@ AnnotationAssertion( "SNOMEDCT_US:709044004") AnnotationAssertion( "UMLS:C0748318") AnnotationAssertion( "UMLS:C1561643") -AnnotationAssertion(Annotation( ) "Chronic kidney disease") +AnnotationAssertion(Annotation( ) "Chronic kidney disease") AnnotationAssertion( "Loss of renal function") AnnotationAssertion( "Progressive renal failure") AnnotationAssertion( "Progressive renal insufficiency") @@ -134841,7 +134834,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-01-17T01:23:43Z") AnnotationAssertion( "SNOMEDCT_US:431857002") AnnotationAssertion( "UMLS:C2317473") -AnnotationAssertion(Annotation( ) "Stage 4 chronic kidney disease") +AnnotationAssertion(Annotation( ) "Stage 4 chronic kidney disease") AnnotationAssertion( "HP:0012626") AnnotationAssertion(rdfs:label "Stage 4 chronic kidney disease") SubClassOf( ) @@ -134880,7 +134873,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:116669003") AnnotationAssertion( "UMLS:C2939415") AnnotationAssertion( "Phacodonesis") -AnnotationAssertion(Annotation( ) Annotation( ) "Trembling eye lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Trembling eye lens") AnnotationAssertion( "HP:0012629") AnnotationAssertion(rdfs:comment "Phacodonesis results from lesions of some or most of the zonular fibres are broken.") AnnotationAssertion(rdfs:label "Phakodonesis") @@ -134916,8 +134909,8 @@ AnnotationAssertion( AnnotationAssertion(Annotation(rdfs:label "Abnormal intraocular pressure") "MP:0005257") AnnotationAssertion( "SNOMEDCT_US:24075007") AnnotationAssertion( "UMLS:C0520999") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal eye pressure") -AnnotationAssertion(Annotation( ) "Abnormal intraocular pressure") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal eye pressure") +AnnotationAssertion(Annotation( ) "Abnormal intraocular pressure") AnnotationAssertion( "HP:0012632") AnnotationAssertion(rdfs:label "Abnormal intraocular pressure") SubClassOf( ) @@ -134973,9 +134966,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-01-18T04:46:41Z") AnnotationAssertion( "UMLS:C2673441") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney Ca wasting") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney Ca2+ wasting") -AnnotationAssertion(Annotation( ) Annotation( ) "Kidney calcium wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney Ca wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney Ca2+ wasting") +AnnotationAssertion(Annotation( ) Annotation( ) "Kidney calcium wasting") AnnotationAssertion(Annotation( ) "Renal Ca wasting") AnnotationAssertion(Annotation( ) "Renal Ca2+ wasting") AnnotationAssertion( "HP:0012637") @@ -135002,7 +134995,7 @@ AnnotationAssertion( AnnotationAssertion( "Fyler:4135") AnnotationAssertion( "Fyler:4300") AnnotationAssertion( "UMLS:C4022810") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of nervous system") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of nervous system") AnnotationAssertion( "Abnormality of nervous system morphology") AnnotationAssertion( "HP:0012639") AnnotationAssertion(rdfs:label "Abnormal nervous system morphology") @@ -135096,7 +135089,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-02-01T01:25:42Z") AnnotationAssertion( "UMLS:C4022805") -AnnotationAssertion(Annotation( ) "Abnormal inflammatory response") +AnnotationAssertion(Annotation( ) "Abnormal inflammatory response") AnnotationAssertion( "HP:0012647") AnnotationAssertion(rdfs:label "Abnormal inflammatory response") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -135108,7 +135101,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-02-01T01:29:24Z") AnnotationAssertion( "UMLS:C4022804") -AnnotationAssertion(Annotation( ) "Decreased inflammatory response") +AnnotationAssertion(Annotation( ) "Decreased inflammatory response") AnnotationAssertion( "HP:0012648") AnnotationAssertion(rdfs:label "Decreased inflammatory response") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -135156,7 +135149,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001250") AnnotationAssertion( "SNOMEDCT_US:31387002") AnnotationAssertion( "UMLS:C0004099") -AnnotationAssertion(Annotation( ) "Exercise-induced asthma") +AnnotationAssertion(Annotation( ) "Exercise-induced asthma") AnnotationAssertion( "HP:0012652") AnnotationAssertion(rdfs:label "Exercise-induced asthma") SubClassOf( ) @@ -135169,7 +135162,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D013224") AnnotationAssertion( "SNOMEDCT_US:708090002") AnnotationAssertion( "UMLS:C0038218") -AnnotationAssertion(Annotation( ) "Acute severe asthma") +AnnotationAssertion(Annotation( ) "Acute severe asthma") AnnotationAssertion( "HP:0012653") AnnotationAssertion(rdfs:label "Status asthmaticus") SubClassOf( ) @@ -135404,7 +135397,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-02-27T11:00:26Z") AnnotationAssertion( "UMLS:C4022788") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent upper vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent upper vagina") AnnotationAssertion( "HP:0012673") AnnotationAssertion(rdfs:comment "The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia.") AnnotationAssertion(rdfs:label "Aplasia of the upper vagina") @@ -135417,7 +135410,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-02-27T11:09:14Z") AnnotationAssertion( "SNOMEDCT_US:253834007") AnnotationAssertion( "UMLS:C0431646") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent lower vagina") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent lower vagina") AnnotationAssertion( "Agenesis of the lower vagina") AnnotationAssertion( "HP:0012674") AnnotationAssertion(rdfs:label "Aplasia of the lower vagina") @@ -135430,7 +135423,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-13T07:22:40Z") AnnotationAssertion( "UMLS:C4021076") AnnotationAssertion( "Brain iron deposition") -AnnotationAssertion(Annotation( ) "Iron accumulation in brain") +AnnotationAssertion(Annotation( ) "Iron accumulation in brain") AnnotationAssertion( "HP:0012675") AnnotationAssertion(rdfs:label "Iron accumulation in brain") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -135442,7 +135435,7 @@ AnnotationAssertion(Annotation( "2014-03-13T07:28:03Z") AnnotationAssertion( "UMLS:C4022787") AnnotationAssertion( "Brain copper accumulation") -AnnotationAssertion(Annotation( ) "Copper accumulation in brain") +AnnotationAssertion(Annotation( ) "Copper accumulation in brain") AnnotationAssertion( "HP:0012676") AnnotationAssertion(rdfs:label "Copper accumulation in brain") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -135703,7 +135696,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-22T06:14:15Z") AnnotationAssertion( "UMLS:C4022767") -AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of shaft of long bone of lower limb") +AnnotationAssertion(Annotation( ) Annotation( ) "Anomaly of shaft of long bone of lower limb") AnnotationAssertion( "HP:0012699") AnnotationAssertion(rdfs:label "Anomaly of lower limb diaphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -135836,7 +135829,7 @@ AnnotationAssertion( "SNOMEDCT_US:400097005") AnnotationAssertion( "SNOMEDCT_US:400200009") AnnotationAssertion( "UMLS:C0027343") -AnnotationAssertion(Annotation( ) "Ingrown nail") +AnnotationAssertion(Annotation( ) "Ingrown nail") AnnotationAssertion( "HP:0012710") AnnotationAssertion(rdfs:label "Ingrown nail") SubClassOf( ) @@ -135848,7 +135841,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T12:27:51Z") AnnotationAssertion( "UMLS:C4022759") AnnotationAssertion( "UMLS:C4280312") -AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the end part of the vertebral bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Delayed maturation of the end part of the vertebral bone") AnnotationAssertion( "HP:0012711") AnnotationAssertion(rdfs:label "Delayed ossification of vertebral epiphysis") SubClassOf( ) @@ -135859,7 +135852,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T12:33:46Z") AnnotationAssertion( "UMLS:C4022758") -AnnotationAssertion(Annotation( ) "Mild hearing impairment") +AnnotationAssertion(Annotation( ) "Mild hearing impairment") AnnotationAssertion( "HP:0012712") AnnotationAssertion(rdfs:label "Mild hearing impairment") SubClassOf( ) @@ -135870,7 +135863,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T12:35:59Z") AnnotationAssertion( "UMLS:C4022757") -AnnotationAssertion(Annotation( ) "Moderate hearing impairment") +AnnotationAssertion(Annotation( ) "Moderate hearing impairment") AnnotationAssertion( "HP:0012713") AnnotationAssertion(rdfs:label "Moderate hearing impairment") SubClassOf( ) @@ -135882,9 +135875,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T12:37:33Z") AnnotationAssertion( "SNOMEDCT_US:3561000119106") AnnotationAssertion( "UMLS:C3874334") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe deafness") -AnnotationAssertion(Annotation( ) "Severe hearing impairment") -AnnotationAssertion(Annotation( ) Annotation( ) "Severe hearing loss") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe deafness") +AnnotationAssertion(Annotation( ) "Severe hearing impairment") +AnnotationAssertion(Annotation( ) Annotation( ) "Severe hearing loss") AnnotationAssertion( "HP:0012714") AnnotationAssertion(rdfs:label "Severe hearing impairment") SubClassOf( ) @@ -135895,7 +135888,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T12:38:39Z") AnnotationAssertion( "UMLS:C4022756") -AnnotationAssertion(Annotation( ) "Profound hearing impairment") +AnnotationAssertion(Annotation( ) "Profound hearing impairment") AnnotationAssertion( "HP:0012715") AnnotationAssertion(rdfs:label "Profound hearing impairment") SubClassOf( ) @@ -135934,7 +135927,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T01:09:02Z") AnnotationAssertion( "UMLS:C4021073") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the digestive system") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the digestive system") AnnotationAssertion(Annotation( ) "Morphological abnormality of the GI tract") AnnotationAssertion( "Morphological anomaly of the digestive system") AnnotationAssertion( "HP:0012718") @@ -135969,11 +135962,11 @@ AnnotationAssertion( "UMLS:C0028433") AnnotationAssertion( "UMLS:C0751394") AnnotationAssertion( "Nasal neoplasm") -AnnotationAssertion(Annotation( ) Annotation( ) "Nasal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Nasal tumor") AnnotationAssertion(Annotation( ) "Nasal tumour") AnnotationAssertion( "Neoplasia of the nose") -AnnotationAssertion(Annotation( ) "Nose cancer") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the nose") +AnnotationAssertion(Annotation( ) "Nose cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the nose") AnnotationAssertion(Annotation( ) "Tumour of the nose") AnnotationAssertion( "HP:0012720") AnnotationAssertion(rdfs:label "Neoplasm of the nose") @@ -136030,9 +136023,9 @@ AnnotationAssertion( "UMLS:C2025988") AnnotationAssertion( "UMLS:C3839407") AnnotationAssertion(Annotation( ) "Cellulitis of upper eyelid") -AnnotationAssertion(Annotation( ) "Fullness of upper eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Puffiness of upper eyelid") -AnnotationAssertion(Annotation( ) "Swelling of upper eyelid") +AnnotationAssertion(Annotation( ) "Fullness of upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Puffiness of upper eyelid") +AnnotationAssertion(Annotation( ) "Swelling of upper eyelid") AnnotationAssertion(Annotation( ) "Upper eyelid oedema") AnnotationAssertion( "HP:0012724") AnnotationAssertion(rdfs:label "Upper eyelid edema") @@ -136057,7 +136050,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T02:08:24Z") AnnotationAssertion( "UMLS:C4022754") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent low potassium") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent low potassium") AnnotationAssertion( "HP:0012726") AnnotationAssertion(rdfs:label "Episodic hypokalemia") SubClassOf( ) @@ -136108,11 +136101,11 @@ SubClassOf( ) "Absence of the tongue owing to a developmental abnormality.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T02:30:53Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing tongue") AnnotationAssertion( "SNOMEDCT_US:74788000") AnnotationAssertion( "UMLS:C0158663") AnnotationAssertion( "Absence of tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of tongue") AnnotationAssertion( "HP:0012730") AnnotationAssertion(rdfs:label "Aglossia") SubClassOf( ) @@ -136148,7 +136141,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T02:54:25Z") AnnotationAssertion( "SNOMEDCT_US:112629002") AnnotationAssertion( "UMLS:C0332573") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Flat, discolored area of skin") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Flat, discolored area of skin") AnnotationAssertion(Annotation( ) "Flat, discoloured area of skin") AnnotationAssertion( "HP:0012733") AnnotationAssertion(rdfs:label "Macule") @@ -136176,8 +136169,8 @@ AnnotationAssertion( "SNOMEDCT_US:272039006") AnnotationAssertion( "SNOMEDCT_US:49727002") AnnotationAssertion( "UMLS:C0010200") -AnnotationAssertion(Annotation( ) "Cough") -AnnotationAssertion(Annotation( ) "Coughing") +AnnotationAssertion(Annotation( ) "Cough") +AnnotationAssertion(Annotation( ) "Coughing") AnnotationAssertion( "HP:0012735") AnnotationAssertion(rdfs:comment "The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks.") AnnotationAssertion(rdfs:label "Cough") @@ -136215,13 +136208,13 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T04:26:04Z") AnnotationAssertion( "UMLS:C4021072") AnnotationAssertion( "UMLS:C4280311") -AnnotationAssertion(Annotation( ) "Absent canines") +AnnotationAssertion(Annotation( ) "Absent canines") AnnotationAssertion(Annotation( ) "Failure of development of canine") AnnotationAssertion(Annotation( ) "Failure of development of eye tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of canine") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of eye tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing canine") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing eye tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of canine") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of eye tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing canine") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing eye tooth") AnnotationAssertion( "HP:0012738") AnnotationAssertion(rdfs:label "Agenesis of canine") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -136235,7 +136228,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T04:28:53Z") AnnotationAssertion( "UMLS:C4021071") AnnotationAssertion( "Small bowel agenesis") -AnnotationAssertion(Annotation( ) Annotation( ) "Undeveloped small intestine") +AnnotationAssertion(Annotation( ) Annotation( ) "Undeveloped small intestine") AnnotationAssertion( "HP:0012739") AnnotationAssertion(rdfs:label "Agenesis of the small intestine") SubClassOf( ) @@ -136275,7 +136268,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T04:47:40Z") AnnotationAssertion( "HP:0040037") AnnotationAssertion( "UMLS:C4022750") -AnnotationAssertion(Annotation( ) "Thin fingernail") +AnnotationAssertion(Annotation( ) "Thin fingernail") AnnotationAssertion( "HP:0012742") AnnotationAssertion(rdfs:comment "No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.") AnnotationAssertion(rdfs:label "Thin fingernail") @@ -136291,8 +136284,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D056128") AnnotationAssertion( "SNOMEDCT_US:248311001") AnnotationAssertion( "UMLS:C0311277") -AnnotationAssertion(Annotation( ) "Abdominal obesity") -AnnotationAssertion(Annotation( ) Annotation( ) "Central obesity") +AnnotationAssertion(Annotation( ) "Abdominal obesity") +AnnotationAssertion(Annotation( ) Annotation( ) "Central obesity") AnnotationAssertion( "HP:0012743") AnnotationAssertion(rdfs:label "Abdominal obesity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -136306,7 +136299,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:47276000") AnnotationAssertion( "UMLS:C0265629") AnnotationAssertion( "Absent femur") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent thighbone") AnnotationAssertion( "Aplasia of the femur") AnnotationAssertion( "HP:0012744") AnnotationAssertion(rdfs:label "Femoral aplasia") @@ -136321,7 +136314,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:246802000") AnnotationAssertion( "UMLS:C0423112") AnnotationAssertion(Annotation( ) "Decreased height of palpebral fissure") -AnnotationAssertion(Annotation( ) Annotation( ) "Short opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Short opening between the eyelids") AnnotationAssertion(Annotation( ) "Short palpebral fissures") AnnotationAssertion( "HP:0012745") AnnotationAssertion( ) @@ -136336,8 +136329,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-03-23T05:34:43Z") AnnotationAssertion( "HP:0040038") AnnotationAssertion( "UMLS:C3554113") -AnnotationAssertion(Annotation( ) "Thin toenail") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin toenails") +AnnotationAssertion(Annotation( ) "Thin toenail") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin toenails") AnnotationAssertion( "HP:0012746") AnnotationAssertion(rdfs:comment "No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.") AnnotationAssertion(rdfs:label "Thin toenail") @@ -136453,7 +136446,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-04-02T05:12:30Z") AnnotationAssertion( "UMLS:C4022739") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neuron shape") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal neuron shape") AnnotationAssertion( "Abnormal neuronal morphology") AnnotationAssertion( "HP:0012757") AnnotationAssertion(rdfs:label "Abnormal neuron morphology") @@ -136600,7 +136593,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-04-07T03:09:08Z") AnnotationAssertion( "UMLS:C4022731") -AnnotationAssertion(Annotation( ) "Abnormal arm span") +AnnotationAssertion(Annotation( ) "Abnormal arm span") AnnotationAssertion( "HP:0012769") AnnotationAssertion(rdfs:label "Abnormal arm span") SubClassOf( ) @@ -136611,7 +136604,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-04-07T03:09:58Z") AnnotationAssertion( "UMLS:C4022730") -AnnotationAssertion(Annotation( ) "Reduced arm span") +AnnotationAssertion(Annotation( ) "Reduced arm span") AnnotationAssertion( "HP:0012770") AnnotationAssertion(rdfs:label "Reduced arm span") SubClassOf( ) @@ -136622,7 +136615,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-04-07T03:10:35Z") AnnotationAssertion( "UMLS:C4022729") -AnnotationAssertion(Annotation( ) "Increased arm span") +AnnotationAssertion(Annotation( ) "Increased arm span") AnnotationAssertion( "HP:0012771") AnnotationAssertion(rdfs:label "Increased arm span") SubClassOf( ) @@ -136725,7 +136718,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:363228008") AnnotationAssertion( "UMLS:C0013449") -AnnotationAssertion(Annotation( ) Annotation( ) "Ear tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Ear tumor") AnnotationAssertion(Annotation( ) "Ear tumour") AnnotationAssertion( "HP:0012780") AnnotationAssertion(rdfs:label "Neoplasm of the ear") @@ -136800,7 +136793,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-04-22T09:18:06Z") AnnotationAssertion( "SNOMEDCT_US:197853008") AnnotationAssertion( "UMLS:C0581366") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent bladder infections") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent bladder infections") AnnotationAssertion( "HP:0012786") AnnotationAssertion(rdfs:comment "One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months.") AnnotationAssertion(rdfs:label "Recurrent cystitis") @@ -136836,8 +136829,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-04-22T09:58:48Z") AnnotationAssertion( "UMLS:C3550873") AnnotationAssertion( "Hypoplastic calcaneus") -AnnotationAssertion(Annotation( ) Annotation( ) "Small heel bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped heel bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small heel bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped heel bone") AnnotationAssertion( "HP:0012789") AnnotationAssertion(rdfs:label "Hypoplasia of the calcaneus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -136861,7 +136854,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-04-24T10:23:43Z") AnnotationAssertion( "UMLS:C4022722") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of long bone in upper arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal maturation of long bone in upper arm") AnnotationAssertion( "HP:0012791") AnnotationAssertion(rdfs:label "Abnormal humeral ossification") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -136937,7 +136930,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:115236002") AnnotationAssertion( "UMLS:C0206619") -AnnotationAssertion(Annotation( ) Annotation( ) "Lymphatic vessel tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Lymphatic vessel tumor") AnnotationAssertion(Annotation( ) "Lymphatic vessel tumour") AnnotationAssertion( "HP:0012797") AnnotationAssertion(rdfs:label "Lymphatic vessel neoplasm") @@ -136968,13 +136961,13 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-05-25T10:35:53Z") AnnotationAssertion( "UMLS:C0239516") AnnotationAssertion( "UMLS:C4022719") -AnnotationAssertion(Annotation( ) "Facial droop") -AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of one side of the face") +AnnotationAssertion(Annotation( ) "Facial droop") +AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of one side of the face") AnnotationAssertion(Annotation( ) "Unilateral facial muscle paralysis") AnnotationAssertion(Annotation( ) "Unilateral facial muscle weakness") AnnotationAssertion(Annotation( ) "Unilateral facial paralysis") AnnotationAssertion(Annotation( ) "Unilateral facial weakness") -AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of one side of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of one side of the face") AnnotationAssertion( "HP:0012799") AnnotationAssertion(rdfs:label "Unilateral facial palsy") SubClassOf( ) @@ -137003,12 +136996,12 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-05-25T02:37:13Z") AnnotationAssertion( "UMLS:C4021066") AnnotationAssertion( "UMLS:C4280310") -AnnotationAssertion(Annotation( ) "Narrow jaw") -AnnotationAssertion(Annotation( ) "Narrow lower face") -AnnotationAssertion(Annotation( ) "Narrow lower jaw") +AnnotationAssertion(Annotation( ) "Narrow jaw") +AnnotationAssertion(Annotation( ) "Narrow lower face") +AnnotationAssertion(Annotation( ) "Narrow lower jaw") AnnotationAssertion( "Narrow mandible") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin lower face") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin lower jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin lower face") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin lower jaw") AnnotationAssertion( "HP:0012801") AnnotationAssertion(rdfs:comment "The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards.") AnnotationAssertion(rdfs:label "Narrow jaw") @@ -137021,10 +137014,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-25T02:41:43Z") AnnotationAssertion( "UMLS:C3281059") -AnnotationAssertion(Annotation( ) "Broad jaw") -AnnotationAssertion(Annotation( ) "Broad lower face") +AnnotationAssertion(Annotation( ) "Broad jaw") +AnnotationAssertion(Annotation( ) "Broad lower face") AnnotationAssertion( "Broad mandible") -AnnotationAssertion(Annotation( ) "Wide jaw") +AnnotationAssertion(Annotation( ) "Wide jaw") AnnotationAssertion( "Wide mandible") AnnotationAssertion( "HP:0012802") AnnotationAssertion(rdfs:comment "The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used.") @@ -137100,14 +137093,14 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-25T05:56:47Z") AnnotationAssertion( "UMLS:C4022718") -AnnotationAssertion(Annotation( ) "Abnormal nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of base of nose") +AnnotationAssertion(Annotation( ) "Abnormal nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of base of nose") AnnotationAssertion(Annotation( ) "Anomaly of base of nose") AnnotationAssertion(Annotation( ) "Anomaly of nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of base of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of base of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of base of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of base of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of nasal base") AnnotationAssertion( "HP:0012808") AnnotationAssertion(rdfs:label "Abnormal nasal base norphology") SubClassOf( ) @@ -137118,12 +137111,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-25T05:58:16Z") AnnotationAssertion( "UMLS:C4022717") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of base of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrow base of nose") -AnnotationAssertion(Annotation( ) "Narrow nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin base of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Thin nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of base of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased width of nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrow base of nose") +AnnotationAssertion(Annotation( ) "Narrow nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin base of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Thin nasal base") AnnotationAssertion( "HP:0012809") AnnotationAssertion(rdfs:comment "There is a marked difference in width of the nasal base depending on ethnic background.") AnnotationAssertion(rdfs:label "Narrow nasal base") @@ -137135,12 +137128,12 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-25T05:59:12Z") AnnotationAssertion( "UMLS:C1849667") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad base of nose") -AnnotationAssertion(Annotation( ) "Broad nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of base of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal base") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide base of nose") -AnnotationAssertion(Annotation( ) "Wide nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad base of nose") +AnnotationAssertion(Annotation( ) "Broad nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of base of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal base") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide base of nose") +AnnotationAssertion(Annotation( ) "Wide nasal base") AnnotationAssertion( "HP:0012810") AnnotationAssertion(rdfs:comment "There is a marked difference in width of the nasal base depending on ethnic background.") AnnotationAssertion(rdfs:label "Wide nasal base") @@ -137156,12 +137149,12 @@ AnnotationAssertion(Annotation( ) "Broad nasal dorsum") AnnotationAssertion(Annotation( ) "Increased width of dorsum of nose") AnnotationAssertion(Annotation( ) "Increased width of nasal dorsum") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal ridge") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased width of nasal ridge") AnnotationAssertion( "Nasal ridge, wide") AnnotationAssertion(Annotation( ) "Wide dorsum of nose") AnnotationAssertion(Annotation( ) "Wide nasal dorsum") -AnnotationAssertion(Annotation( ) "Wide nasal ridge") -AnnotationAssertion(Annotation( ) "Broad nasal ridge") +AnnotationAssertion(Annotation( ) "Wide nasal ridge") +AnnotationAssertion(Annotation( ) "Broad nasal ridge") AnnotationAssertion( "HP:0012811") AnnotationAssertion(rdfs:comment "This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose.") AnnotationAssertion(rdfs:label "Wide nasal ridge") @@ -137175,11 +137168,11 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4021065") AnnotationAssertion( "UMLS:C4280308") AnnotationAssertion( "UMLS:C4280309") -AnnotationAssertion(Annotation( ) Annotation( ) "Fullness of tissue around the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Fullness of tissue around the nose") AnnotationAssertion( "Laterally built up nose") AnnotationAssertion( "Paranasal fullness") AnnotationAssertion(Annotation( ) "Thick paranasal tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Thick tissue around the nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Thick tissue around the nose") AnnotationAssertion(Annotation( ) "Hyperplasia of paranasal tissue") AnnotationAssertion(Annotation( ) "Hypertrophy of paranasal tissue") AnnotationAssertion( "HP:0012812") @@ -137193,7 +137186,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-26T08:11:58Z") AnnotationAssertion( "UMLS:C1844722") -AnnotationAssertion(Annotation( ) Annotation( ) "One underdeveloped breast") +AnnotationAssertion(Annotation( ) Annotation( ) "One underdeveloped breast") AnnotationAssertion( "HP:0012813") AnnotationAssertion(rdfs:label "Unilateral breast hypoplasia") SubClassOf( ) @@ -137204,7 +137197,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-26T08:12:34Z") AnnotationAssertion( "UMLS:C4022716") -AnnotationAssertion(Annotation( ) Annotation( ) "Two underdeveloped breasts") +AnnotationAssertion(Annotation( ) Annotation( ) "Two underdeveloped breasts") AnnotationAssertion( "HP:0012814") AnnotationAssertion(rdfs:label "Bilateral breast hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -137216,7 +137209,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-05-27T08:14:55Z") AnnotationAssertion( "UMLS:C4022715") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped female external genitalia") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped female external genitalia") AnnotationAssertion( "HP:0012815") AnnotationAssertion(rdfs:label "Hypoplastic female external genitalia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -137264,7 +137257,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D009205") AnnotationAssertion( "SNOMEDCT_US:50920009") AnnotationAssertion( "UMLS:C0027059") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of heart muscle") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of heart muscle") AnnotationAssertion( "HP:0012819") AnnotationAssertion(rdfs:comment "Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment.") AnnotationAssertion(rdfs:label "Myocarditis") @@ -137337,7 +137330,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-06T06:41:33Z") AnnotationAssertion( "SNOMEDCT_US:446411000124101") AnnotationAssertion( "UMLS:C1513302") -AnnotationAssertion(Annotation( ) "Mild") +AnnotationAssertion(Annotation( ) "Mild") AnnotationAssertion( "HP:0012825") AnnotationAssertion(rdfs:comment "PATO:0000394, mild.") AnnotationAssertion(rdfs:label "Mild") @@ -137362,7 +137355,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-06-06T06:52:16Z") AnnotationAssertion( "UMLS:C0205189") -AnnotationAssertion(Annotation( ) "Borderline") +AnnotationAssertion(Annotation( ) "Borderline") AnnotationAssertion( "HP:0012827") AnnotationAssertion(rdfs:comment "PATO:0000394, mild.") AnnotationAssertion(rdfs:label "Borderline") @@ -137375,7 +137368,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-06T07:03:17Z") AnnotationAssertion( "SNOMEDCT_US:24484000") AnnotationAssertion( "UMLS:C0205082") -AnnotationAssertion(Annotation( ) "Severe") +AnnotationAssertion(Annotation( ) "Severe") AnnotationAssertion( "HP:0012828") AnnotationAssertion(rdfs:comment "PATO:0000396, severe.") AnnotationAssertion(rdfs:label "Severe") @@ -137388,7 +137381,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-06T07:05:46Z") AnnotationAssertion( "SNOMEDCT_US:795002") AnnotationAssertion( "UMLS:C0439808") -AnnotationAssertion(Annotation( ) "Profound") +AnnotationAssertion(Annotation( ) "Profound") AnnotationAssertion( "HP:0012829") AnnotationAssertion(rdfs:label "Profound") SubClassOf( ) @@ -137491,7 +137484,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:255471002") AnnotationAssertion( "UMLS:C0392752") AnnotationAssertion(Annotation( ) "Localised") -AnnotationAssertion(Annotation( ) "Localized") +AnnotationAssertion(Annotation( ) "Localized") AnnotationAssertion( "HP:0012838") AnnotationAssertion(rdfs:comment "PATO:0000627.") AnnotationAssertion(rdfs:label "Localized") @@ -137504,7 +137497,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-06T07:29:38Z") AnnotationAssertion( "SNOMEDCT_US:46053002") AnnotationAssertion( "UMLS:C0205108") -AnnotationAssertion(Annotation( ) Annotation( ) "Outermost") +AnnotationAssertion(Annotation( ) Annotation( ) "Outermost") AnnotationAssertion( "HP:0012839") AnnotationAssertion(rdfs:label "Distal") SubClassOf( ) @@ -137616,7 +137609,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-06-07T09:00:19Z") AnnotationAssertion( "UMLS:C0151924") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of small intestine") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of small intestine") AnnotationAssertion( "HP:0012848") AnnotationAssertion(rdfs:label "Small intestinal stenosis") SubClassOf( ) @@ -137628,7 +137621,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-07T09:12:22Z") AnnotationAssertion( "SNOMEDCT_US:70375006") AnnotationAssertion( "UMLS:C0520561") -AnnotationAssertion(Annotation( ) "Small intestinal bleeding") +AnnotationAssertion(Annotation( ) "Small intestinal bleeding") AnnotationAssertion(Annotation( ) "Small intestinal haemorrhage") AnnotationAssertion( "Small intestinal hemorrhage") AnnotationAssertion( "HP:0012849") @@ -137658,7 +137651,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:19132000") AnnotationAssertion( "SNOMEDCT_US:8543007") AnnotationAssertion( "UMLS:C0267466") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the colon") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the colon") AnnotationAssertion( "Stenosis of the colon") AnnotationAssertion( "HP:0012851") AnnotationAssertion(rdfs:label "Colonic stenosis") @@ -137784,7 +137777,7 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C4022704") AnnotationAssertion( "Abnormal shape of a reproductive cell") AnnotationAssertion( "Abnormally shaped germ cell") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped reproductive cell") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally shaped reproductive cell") AnnotationAssertion( "HP:0012862") AnnotationAssertion(rdfs:label "Abnormal germ cell morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -137809,7 +137802,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D000072660") AnnotationAssertion( "SNOMEDCT_US:236817003") AnnotationAssertion( "UMLS:C0403824") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of sperm") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of sperm") AnnotationAssertion( "Teratospermia") AnnotationAssertion( "Teratozoospermia") AnnotationAssertion( "HP:0012864") @@ -137881,7 +137874,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:C537770") AnnotationAssertion( "SNOMEDCT_US:53599007") AnnotationAssertion( "UMLS:C0266427") -AnnotationAssertion(Annotation( ) "Vanishing testis") +AnnotationAssertion(Annotation( ) "Vanishing testis") AnnotationAssertion( "Testicular regression syndrome") AnnotationAssertion( "HP:0012870") AnnotationAssertion(rdfs:label "Vanishing testis") @@ -137960,7 +137953,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D061686") AnnotationAssertion( "SNOMEDCT_US:44001008") AnnotationAssertion( "UMLS:C0033038") -AnnotationAssertion(Annotation( ) "Premature ejaculation") +AnnotationAssertion(Annotation( ) "Premature ejaculation") AnnotationAssertion( "HP:0012876") AnnotationAssertion(rdfs:label "Premature ejaculation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -137984,7 +137977,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-09T11:29:28Z") AnnotationAssertion( "SNOMEDCT_US:15405008") AnnotationAssertion( "UMLS:C0234047") -AnnotationAssertion(Annotation( ) "Delayed ejaculation") +AnnotationAssertion(Annotation( ) "Delayed ejaculation") AnnotationAssertion( "HP:0012878") AnnotationAssertion(rdfs:label "Retarded ejaculation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -138009,7 +138002,7 @@ SubClassOf( ) "An anomaly of the labia minora, the folds of skin between the outer labia.") AnnotationAssertion( "2014-06-11T07:44:31Z") AnnotationAssertion( "UMLS:C4022696") -AnnotationAssertion(Annotation( ) "Abnormality of the inner vaginal lips") +AnnotationAssertion(Annotation( ) "Abnormality of the inner vaginal lips") AnnotationAssertion( "Abnormality of the labia minora") AnnotationAssertion( "HP:0012880") AnnotationAssertion(rdfs:label "Abnormal labia minora morphology") @@ -138023,7 +138016,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-11T07:46:41Z") AnnotationAssertion( "UMLS:C4022695") AnnotationAssertion( "Abnormality of the labia majora") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of vaginal lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of vaginal lips") AnnotationAssertion( "HP:0012881") AnnotationAssertion(rdfs:label "Abnormal labia majora morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -138060,7 +138053,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-11T08:01:57Z") AnnotationAssertion( "SNOMEDCT_US:46946009") AnnotationAssertion( "UMLS:C0269169") -AnnotationAssertion(Annotation( ) Annotation( ) "Twisted fallopian tube") +AnnotationAssertion(Annotation( ) Annotation( ) "Twisted fallopian tube") AnnotationAssertion( "HP:0012884") AnnotationAssertion(rdfs:comment "Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube.") AnnotationAssertion(rdfs:label "Fallopian tube torsion") @@ -138146,7 +138139,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-06-23T10:57:10Z") AnnotationAssertion( "UMLS:C4022692") -AnnotationAssertion(Annotation( ) Annotation( ) "High hairline at back of head") +AnnotationAssertion(Annotation( ) Annotation( ) "High hairline at back of head") AnnotationAssertion( "HP:0012891") AnnotationAssertion(rdfs:label "High posterior hairline") SubClassOf( ) @@ -138158,8 +138151,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2014-06-23T10:58:42Z") AnnotationAssertion( "UMLS:C4022691") AnnotationAssertion( "UMLS:C4280307") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Large facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of facial muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Large facial muscles") AnnotationAssertion(Annotation( ) "Hyperplasia of facial muscles") AnnotationAssertion( "HP:0012892") AnnotationAssertion(rdfs:label "Facial muscle hypertrophy") @@ -138172,12 +138165,12 @@ SubClassOf( "HPO_CONTRIBUTOR:UToronto_htrang") "Muscle hypertrophy affecting the muscles of the neck.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-23T10:59:17Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of neck muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of neck muscles") AnnotationAssertion( "UMLS:C4022690") AnnotationAssertion( "UMLS:C4280306") AnnotationAssertion(Annotation( ) "Hypertrophy of cervical muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Large neck muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of neck muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Large neck muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of neck muscles") AnnotationAssertion(Annotation( ) "Hyperplasia of neck muscles") AnnotationAssertion( "HP:0012893") AnnotationAssertion(rdfs:label "Neck muscle hypertrophy") @@ -138635,7 +138628,7 @@ SubClassOf( "An infection of a hair follicle that extends subcutaneously, forming an abscess.") AnnotationAssertion(dc:date "2019-04-08T16:59:51Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Boil") +AnnotationAssertion(Annotation( ) "Boil") AnnotationAssertion(rdfs:label "Furuncle") SubClassOf( ) @@ -139866,7 +139859,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "MSH:D020859") AnnotationAssertion( "SNOMEDCT_US:6654000") AnnotationAssertion( "UMLS:C0264134") -AnnotationAssertion(Annotation( ) "Arthritis of the big toe") +AnnotationAssertion(Annotation( ) "Arthritis of the big toe") AnnotationAssertion(rdfs:comment "Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409].") AnnotationAssertion(rdfs:label "Hallux rigidus"@en) EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -140020,7 +140013,7 @@ SubClassOf( "PMID:10524488") "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.") AnnotationAssertion(dc:date "2016-08-22T10:26:22Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal ESR") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal ESR") AnnotationAssertion( "Abnormal Westergren sedimentation rate") AnnotationAssertion(rdfs:label "Abnormal erythrocyte sedimentation rate"@en) SubClassOf( ) @@ -140031,7 +140024,7 @@ AnnotationAssertion(Annotation( "2016-08-22T10:39:06Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion(Annotation( ) Annotation( ) "Decreased ESR") -AnnotationAssertion(Annotation( ) Annotation( ) "Low ESR") +AnnotationAssertion(Annotation( ) Annotation( ) "Low ESR") AnnotationAssertion(rdfs:label "Decreased erythrocyte sedimentation rate"@en) SubClassOf( ) @@ -140571,11 +140564,11 @@ SubClassOf( "Passage of many stools containing blood.") AnnotationAssertion(dc:date "2016-10-15T13:58:14Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Blood in stool") -AnnotationAssertion(Annotation( ) "Bloody stool") -AnnotationAssertion(Annotation( ) "Bloody bowel movement") -AnnotationAssertion(Annotation( ) "Bloody diarrhea") -AnnotationAssertion(Annotation( ) "Bloody diarrhoea") +AnnotationAssertion(Annotation( ) "Blood in stool") +AnnotationAssertion(Annotation( ) "Bloody stool") +AnnotationAssertion(Annotation( ) "Bloody bowel movement") +AnnotationAssertion(Annotation( ) "Bloody diarrhea") +AnnotationAssertion(Annotation( ) "Bloody diarrhoea") AnnotationAssertion(rdfs:comment "Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea.") AnnotationAssertion(rdfs:label "Bloody diarrhea"@en) SubClassOf( ) @@ -140636,7 +140629,7 @@ AnnotationAssertion(dc:date "2016-10 AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Acanthosis") AnnotationAssertion( "Acanthotic epidermis") -AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of upper layer of skin") +AnnotationAssertion(Annotation( ) Annotation( ) "Thickening of upper layer of skin") AnnotationAssertion( "Epidermal hyperplasia") AnnotationAssertion(rdfs:comment "Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells.") AnnotationAssertion(rdfs:label "Epidermal acanthosis"@en) @@ -141104,7 +141097,7 @@ SubClassOf( "A sudden sensation of feeling cold.") AnnotationAssertion(dc:date "2016-11-29T11:10:01Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Chills") +AnnotationAssertion(Annotation( ) "Chills") AnnotationAssertion(rdfs:comment "The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold.") AnnotationAssertion(rdfs:label "Chills"@en) SubClassOf( ) @@ -141114,8 +141107,8 @@ SubClassOf( "Involuntary contraction or twitching of the muscles.") AnnotationAssertion(dc:date "2016-11-29T11:13:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Shivering") -AnnotationAssertion(Annotation( ) "Shuddering") +AnnotationAssertion(Annotation( ) "Shivering") +AnnotationAssertion(Annotation( ) "Shuddering") AnnotationAssertion(rdfs:comment "Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold.") AnnotationAssertion(rdfs:label "Shivering"@en) SubClassOf( ) @@ -141646,7 +141639,7 @@ AnnotationAssertion( "2016-12-10T13:41:09Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Breastfeeding triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by breastfeeding") +AnnotationAssertion(Annotation( ) "Triggered by breastfeeding") AnnotationAssertion(rdfs:label "Triggered by breast feeding"@en) SubClassOf( ) @@ -141656,7 +141649,7 @@ AnnotationAssertion( "2016-12-10T13:44:40Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Cold triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by cold temperature") +AnnotationAssertion(Annotation( ) "Triggered by cold temperature") AnnotationAssertion(rdfs:label "Triggered by cold"@en) SubClassOf( ) @@ -141666,7 +141659,7 @@ AnnotationAssertion( "2016-12-10T13:45:29Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Dehydration triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by dehydration") +AnnotationAssertion(Annotation( ) "Triggered by dehydration") AnnotationAssertion(rdfs:label "Triggered by dehydration"@en) SubClassOf( ) @@ -141676,7 +141669,7 @@ AnnotationAssertion( "2016-12-10T13:46:32Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Carbohydrate ingestion triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by carbohydrate ingestion") +AnnotationAssertion(Annotation( ) "Triggered by carbohydrate ingestion") AnnotationAssertion(rdfs:label "Triggered by carbohydrate ingestion"@en) SubClassOf( ) @@ -141685,7 +141678,7 @@ SubClassOf( "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.") AnnotationAssertion(dc:date "2016-12-10T13:48:19Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Trigged by fruit sugar") +AnnotationAssertion(Annotation( ) "Trigged by fruit sugar") AnnotationAssertion(rdfs:label "Triggered by fructose ingestion"@en) SubClassOf( ) @@ -141702,7 +141695,7 @@ SubClassOf( "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.") AnnotationAssertion(dc:date "2016-12-10T13:50:14Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Triggered by alcohol ingestion") +AnnotationAssertion(Annotation( ) "Triggered by alcohol ingestion") AnnotationAssertion( "Ethanol ingestion triggered symptoms") AnnotationAssertion(rdfs:label "Triggered by ethanol ingestion"@en) SubClassOf( ) @@ -141714,7 +141707,7 @@ AnnotationAssertion(dc:date "2016-12 AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Fasting triggered attacks") AnnotationAssertion( "Fasting triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by fasting") +AnnotationAssertion(Annotation( ) "Triggered by fasting") AnnotationAssertion(rdfs:label "Triggered by fasting"@en) SubClassOf( ) @@ -141723,7 +141716,7 @@ SubClassOf( "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.") AnnotationAssertion(dc:date "2016-12-10T13:51:49Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Triggered by ingestion of lactose-containing milk") +AnnotationAssertion(Annotation( ) "Triggered by ingestion of lactose-containing milk") AnnotationAssertion(rdfs:label "Triggered by galactose ingestion"@en) SubClassOf( ) @@ -141733,7 +141726,7 @@ AnnotationAssertion( "2016-12-10T13:59:21Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Heat triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by heat") +AnnotationAssertion(Annotation( ) "Triggered by heat") AnnotationAssertion(rdfs:label "Triggered by heat"@en) SubClassOf( ) @@ -141743,7 +141736,7 @@ AnnotationAssertion( "2016-12-10T14:00:39Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Febrile illness triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by fever") +AnnotationAssertion(Annotation( ) "Triggered by fever") AnnotationAssertion(rdfs:label "Triggered by febrile illness"@en) SubClassOf( ) @@ -141753,7 +141746,7 @@ AnnotationAssertion( "2016-12-10T14:01:22Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Heavy meal triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by overeating") +AnnotationAssertion(Annotation( ) "Triggered by overeating") AnnotationAssertion(rdfs:label "Triggered by heavy meal"@en) SubClassOf( ) @@ -141763,7 +141756,7 @@ AnnotationAssertion( "2016-12-10T14:02:17Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "High-fat diet triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by high-fat diet") +AnnotationAssertion(Annotation( ) "Triggered by high-fat diet") AnnotationAssertion(rdfs:label "Triggered by high-fat diet"@en) SubClassOf( ) @@ -141773,7 +141766,7 @@ AnnotationAssertion( "2016-12-10T14:02:50Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Hyperventilation triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by hyperventilation") +AnnotationAssertion(Annotation( ) "Triggered by hyperventilation") AnnotationAssertion(rdfs:label "Triggered by hyperventilation"@en) SubClassOf( ) @@ -141784,7 +141777,7 @@ AnnotationAssertion(dc:date "2016-12 AnnotationAssertion(dcterms:creator ) AnnotationAssertion(Annotation( ) "Triggered by immunisation") AnnotationAssertion( "Triggered by immunization") -AnnotationAssertion(Annotation( ) "Triggered by vaccination") +AnnotationAssertion(Annotation( ) "Triggered by vaccination") AnnotationAssertion( "Vaccination triggered symptoms") AnnotationAssertion(rdfs:label "Triggered by vaccination"@en) SubClassOf( ) @@ -141795,8 +141788,8 @@ AnnotationAssertion( "2016-12-10T14:05:58Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Menstruation triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by monthly period") -AnnotationAssertion(Annotation( ) "Triggered by period") +AnnotationAssertion(Annotation( ) "Triggered by monthly period") +AnnotationAssertion(Annotation( ) "Triggered by period") AnnotationAssertion(rdfs:label "Triggered by menstruation"@en) SubClassOf( ) @@ -141806,7 +141799,7 @@ AnnotationAssertion( "2016-12-10T14:06:54Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Pregnancy triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by pregnancy") +AnnotationAssertion(Annotation( ) "Triggered by pregnancy") AnnotationAssertion(rdfs:label "Triggered by pregnancy"@en) SubClassOf( ) @@ -141816,7 +141809,7 @@ AnnotationAssertion( "2016-12-10T14:07:29Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Sleep deprivation triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by sleep deprivation") +AnnotationAssertion(Annotation( ) "Triggered by sleep deprivation") AnnotationAssertion(rdfs:label "Triggered by sleep deprivation"@en) SubClassOf( ) @@ -141826,9 +141819,9 @@ AnnotationAssertion( "2016-12-10T14:07:58Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Smoking triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by cigarette consumption") -AnnotationAssertion(Annotation( ) "Triggered by smoking") -AnnotationAssertion(Annotation( ) "Triggered by tobacco use") +AnnotationAssertion(Annotation( ) "Triggered by cigarette consumption") +AnnotationAssertion(Annotation( ) "Triggered by smoking") +AnnotationAssertion(Annotation( ) "Triggered by tobacco use") AnnotationAssertion(rdfs:label "Triggered by smoking"@en) SubClassOf( ) @@ -141842,7 +141835,7 @@ AnnotationAssertion( ) "Triggered by Na ingestion") AnnotationAssertion(Annotation( ) "Triggered by Na+ ingestion") AnnotationAssertion( "Triggered by sodium intake") -AnnotationAssertion(Annotation( ) "Triggered by salt ingestion") +AnnotationAssertion(Annotation( ) "Triggered by salt ingestion") AnnotationAssertion(rdfs:label "Triggered by sodium ingestion"@en) SubClassOf( ) @@ -141852,7 +141845,7 @@ AnnotationAssertion( "2016-12-10T14:09:30Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Sound triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by sound") +AnnotationAssertion(Annotation( ) "Triggered by sound") AnnotationAssertion(rdfs:comment "For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech.") AnnotationAssertion(rdfs:label "Triggered by sound"@en) SubClassOf( ) @@ -141863,7 +141856,7 @@ AnnotationAssertion( "2016-12-10T14:24:37Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Stress triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by stress") +AnnotationAssertion(Annotation( ) "Triggered by stress") AnnotationAssertion(rdfs:label "Triggered by stress"@en) SubClassOf( ) @@ -141873,7 +141866,7 @@ AnnotationAssertion( "2016-12-10T14:28:21Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Excitement triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by excitement") +AnnotationAssertion(Annotation( ) "Triggered by excitement") AnnotationAssertion( "Triggered by startle") AnnotationAssertion(rdfs:label "Triggered by excitement"@en) SubClassOf( ) @@ -141885,7 +141878,7 @@ AnnotationAssertion(dc:date "2016-12 AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Kinesigenic") AnnotationAssertion( "Sudden movement triggered symptoms") -AnnotationAssertion(Annotation( ) "Triggered by sudden movement") +AnnotationAssertion(Annotation( ) "Triggered by sudden movement") AnnotationAssertion(rdfs:label "Triggered by sudden movement"@en) SubClassOf( ) @@ -141957,7 +141950,7 @@ SubClassOf( "PMID:27647645") "Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.") AnnotationAssertion(dc:date "2016-12-14T12:01:00Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Sleep walking") +AnnotationAssertion(Annotation( ) Annotation( ) "Sleep walking") AnnotationAssertion(rdfs:comment "During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house.") AnnotationAssertion(rdfs:label "Somnambulism"@en) SubClassOf( ) @@ -141975,7 +141968,7 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.") AnnotationAssertion(dc:date "2016-12-16T11:55:08Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Foot pain") +AnnotationAssertion(Annotation( ) "Foot pain") AnnotationAssertion(rdfs:label "Foot pain"@en) SubClassOf( ) @@ -142093,7 +142086,7 @@ SubClassOf( "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.") AnnotationAssertion(dc:date "2016-12-17T13:57:50Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Whitehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Whitehead") AnnotationAssertion(rdfs:label "Closed comedo"@en) SubClassOf( ) @@ -142102,7 +142095,7 @@ SubClassOf( "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.") AnnotationAssertion(dc:date "2016-12-17T14:04:52Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Blackhead") +AnnotationAssertion(Annotation( ) Annotation( ) "Blackhead") AnnotationAssertion(rdfs:label "Open comedo"@en) SubClassOf( ) @@ -142169,8 +142162,8 @@ SubClassOf( "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.") AnnotationAssertion(dc:date "2016-12-18T01:06:15Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Neck stiffness") -AnnotationAssertion(Annotation( ) "Stiff neck") +AnnotationAssertion(Annotation( ) "Neck stiffness") +AnnotationAssertion(Annotation( ) "Stiff neck") AnnotationAssertion(rdfs:label "Stiff neck"@en) SubClassOf( ) SubClassOf( ) @@ -142180,8 +142173,8 @@ SubClassOf( "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:11:24Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Elbow stiffness") -AnnotationAssertion(Annotation( ) "Stiff elbow") +AnnotationAssertion(Annotation( ) "Elbow stiffness") +AnnotationAssertion(Annotation( ) "Stiff elbow") AnnotationAssertion(rdfs:label "Stiff elbow"@en) SubClassOf( ) @@ -142190,8 +142183,8 @@ SubClassOf( "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:12:32Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Stiff wrist") -AnnotationAssertion(Annotation( ) "Wrist stiffness") +AnnotationAssertion(Annotation( ) "Stiff wrist") +AnnotationAssertion(Annotation( ) "Wrist stiffness") AnnotationAssertion(rdfs:label "Stiff wrist"@en) SubClassOf( ) @@ -142200,8 +142193,8 @@ SubClassOf( "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:13:47Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Finger stiffness") -AnnotationAssertion(Annotation( ) "Stiff finger") +AnnotationAssertion(Annotation( ) "Finger stiffness") +AnnotationAssertion(Annotation( ) "Stiff finger") AnnotationAssertion(rdfs:label "Stiff finger"@en) SubClassOf( ) @@ -142210,8 +142203,8 @@ SubClassOf( "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:15:11Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Hip stiffness") -AnnotationAssertion(Annotation( ) "Stiff hip") +AnnotationAssertion(Annotation( ) "Hip stiffness") +AnnotationAssertion(Annotation( ) "Stiff hip") AnnotationAssertion(rdfs:label "Stiff hip"@en) SubClassOf( ) @@ -142220,8 +142213,8 @@ SubClassOf( "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:16:12Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Knee stiffness") -AnnotationAssertion(Annotation( ) "Stiff knee") +AnnotationAssertion(Annotation( ) "Knee stiffness") +AnnotationAssertion(Annotation( ) "Stiff knee") AnnotationAssertion(rdfs:label "Stiff knee"@en) SubClassOf( ) @@ -142230,8 +142223,8 @@ SubClassOf( "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:17:12Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Ankle stiffness") -AnnotationAssertion(Annotation( ) "Stiff ankle") +AnnotationAssertion(Annotation( ) "Ankle stiffness") +AnnotationAssertion(Annotation( ) "Stiff ankle") AnnotationAssertion(rdfs:label "Stiff ankle"@en) SubClassOf( ) @@ -142240,8 +142233,8 @@ SubClassOf( "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.") AnnotationAssertion(dc:date "2016-12-18T01:18:04Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Stiff toe") -AnnotationAssertion(Annotation( ) "Toe stiffness") +AnnotationAssertion(Annotation( ) "Stiff toe") +AnnotationAssertion(Annotation( ) "Toe stiffness") AnnotationAssertion(rdfs:label "Stiff toe"@en) SubClassOf( ) @@ -142270,8 +142263,8 @@ SubClassOf( "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.") AnnotationAssertion(dc:date "2016-12-18T13:27:31Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Stammering") -AnnotationAssertion(Annotation( ) "Stuttering") +AnnotationAssertion(Annotation( ) Annotation( ) "Stammering") +AnnotationAssertion(Annotation( ) "Stuttering") AnnotationAssertion(rdfs:label "Stuttering"@en) SubClassOf( ) @@ -142280,7 +142273,7 @@ SubClassOf( "PMID:28613692") "A sudden episode of intense fear in a situation in which there is no danger or apparent cause.") AnnotationAssertion(dc:date "2016-12-18T13:34:22Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Panic attack") +AnnotationAssertion(Annotation( ) "Panic attack") AnnotationAssertion(rdfs:comment "The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.") AnnotationAssertion(rdfs:label "Panic attack"@en) SubClassOf( ) @@ -142449,7 +142442,7 @@ SubClassOf( "Enlarged lymph nodes in the neck.") AnnotationAssertion(dc:date "2016-12-18T15:40:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Swollen lymph nodes in the neck") +AnnotationAssertion(Annotation( ) "Swollen lymph nodes in the neck") AnnotationAssertion(rdfs:label "Cervical lymphadenopathy"@en) SubClassOf( ) @@ -142551,7 +142544,7 @@ SubClassOf( "Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.") AnnotationAssertion(dc:date "2016-12-21T00:51:43Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Now and then") +AnnotationAssertion(Annotation( ) "Now and then") AnnotationAssertion(rdfs:comment "In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence.") AnnotationAssertion(rdfs:label "Episodic"@en) SubClassOf( ) @@ -142603,7 +142596,7 @@ SubClassOf( "A deviation from the normal circular shape of the pupil") AnnotationAssertion(dc:date "2016-12-21T01:08:53Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular pupil") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular pupil") AnnotationAssertion(rdfs:label "Abnormal pupil shape"@en) SubClassOf( ) @@ -142848,8 +142841,8 @@ SubClassOf( "A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.") AnnotationAssertion(dc:date "2017-02-12T12:27:39Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Red eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Red eyes") +AnnotationAssertion(Annotation( ) "Red eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Red eyes") AnnotationAssertion(rdfs:label "Red eye"@en) SubClassOf( ) @@ -143252,7 +143245,7 @@ SubClassOf( "PMID:22301856") "An area of fat accumulation at the back of the neck in the form of a hump.") AnnotationAssertion(dc:date "2017-04-21T11:39:02Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Buffalo hump") +AnnotationAssertion(Annotation( ) "Buffalo hump") AnnotationAssertion(rdfs:label "Dorsocervical fat pad"@en) SubClassOf( ) @@ -143456,8 +143449,8 @@ SubClassOf( "A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.") AnnotationAssertion(dc:date "2017-04-22T14:48:03Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Lack of energy and strength") -AnnotationAssertion(Annotation( ) "Weakness") +AnnotationAssertion(Annotation( ) "Lack of energy and strength") +AnnotationAssertion(Annotation( ) "Weakness") AnnotationAssertion( "Prostration") AnnotationAssertion(rdfs:comment "Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles. Asthenia and fatigue can coexist.") AnnotationAssertion(rdfs:label "Asthenia"@en) @@ -144390,7 +144383,7 @@ SubClassOf( "Underdevelopment of the hippocampus.") AnnotationAssertion(dc:date "2017-05-16T22:42:57Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Small hippocampus") +AnnotationAssertion(Annotation( ) "Small hippocampus") AnnotationAssertion( "Underdeveloped hippocampus") AnnotationAssertion(rdfs:label "Hypoplastic hippocampus"@en) SubClassOf( ) @@ -144693,7 +144686,7 @@ SubClassOf( "PMID:20411091") "Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.") AnnotationAssertion(dc:date "2017-07-09T13:16:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Raccoon eyes") +AnnotationAssertion(Annotation( ) "Raccoon eyes") AnnotationAssertion(rdfs:label "Periorbital ecchymosis with tarsal plate sparing"@en) SubClassOf( ) @@ -146150,8 +146143,8 @@ SubClassOf( "PMID:20590416") "A condition in which the eyelids do not close to cover the eye completely.") AnnotationAssertion( "UMLS:C4022680") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stay open") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to close the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stay open") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to close the eyelids") AnnotationAssertion(Annotation( "PMID:20590416") rdfs:comment "Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function.") AnnotationAssertion(rdfs:label "Lagophthalmos") SubClassOf( ) @@ -146161,8 +146154,8 @@ SubClassOf( "PMID:16671223") "The inability to close the eyelids during sleep.") AnnotationAssertion( "SNOMEDCT_US:417740005") AnnotationAssertion( "UMLS:C1563118") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stay open at night") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to close the eyelids at night") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stay open at night") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to close the eyelids at night") AnnotationAssertion(Annotation( "PMID:16671223") rdfs:comment "Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies.") AnnotationAssertion(rdfs:label "Nocturnal lagophthalmos") SubClassOf( ) @@ -146181,8 +146174,8 @@ SubClassOf( "A type of lagophthalmos that occurs following trauma or surgery.") AnnotationAssertion( "SNOMEDCT_US:9042000") AnnotationAssertion( "UMLS:C0155199") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stay open due to scarring") -AnnotationAssertion(Annotation( ) Annotation( ) "Inability to close the eyelids due to scarring") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelids stay open due to scarring") +AnnotationAssertion(Annotation( ) Annotation( ) "Inability to close the eyelids due to scarring") AnnotationAssertion(rdfs:label "Cicatricial lagophthalmos") SubClassOf( ) @@ -146220,7 +146213,7 @@ SubClassOf( "Congenital absence of the cervix.") AnnotationAssertion( "SNOMEDCT_US:37687000") AnnotationAssertion( "UMLS:C0266404") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent cervix") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent cervix") AnnotationAssertion( "Aplasia of the cervix") AnnotationAssertion( "Cervical aplasia") AnnotationAssertion(rdfs:label "Cervical agenesis") @@ -146261,8 +146254,8 @@ SubClassOf( "UMLS:C4020714") AnnotationAssertion( "UMLS:C4022678") -AnnotationAssertion(Annotation( ) "Abnormal female reproductive system physiology") -AnnotationAssertion(Annotation( ) "Abnormal female genital system physiology") +AnnotationAssertion(Annotation( ) "Abnormal female reproductive system physiology") +AnnotationAssertion(Annotation( ) "Abnormal female genital system physiology") AnnotationAssertion(rdfs:label "Abnormal female reproductive system physiology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -146283,7 +146276,7 @@ SubClassOf( (Female anorgasmia) AnnotationAssertion(Annotation( "PMID:16391543") "The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.") -AnnotationAssertion(Annotation( ) "Female orgasmic disorder") +AnnotationAssertion(Annotation( ) "Female orgasmic disorder") AnnotationAssertion( "SNOMEDCT_US:60103007") AnnotationAssertion( "UMLS:C0033948") AnnotationAssertion( "UMLS:C4022677") @@ -146317,7 +146310,7 @@ SubClassOf( "Dminished sexual desire in female.") AnnotationAssertion( "UMLS:C4022676") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased female sex drive") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased female sex drive") AnnotationAssertion(rdfs:label "Decreased female libido") SubClassOf( ) SubClassOf( ) @@ -146326,7 +146319,7 @@ SubClassOf( "Elevated sexual desire in female") AnnotationAssertion( "UMLS:C4022675") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased female sex drive") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased female sex drive") AnnotationAssertion(rdfs:label "Increased female libido") SubClassOf( ) SubClassOf( ) @@ -146345,8 +146338,8 @@ AnnotationAssertion(Annotation( "UMLS:C3888103") AnnotationAssertion( "Constricted ear") AnnotationAssertion( "Cosman ear") -AnnotationAssertion(Annotation( ) "Question mark ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Question mark ears") +AnnotationAssertion(Annotation( ) "Question mark ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Question mark ears") AnnotationAssertion(rdfs:comment "Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix.") AnnotationAssertion(rdfs:label "Question mark ear") SubClassOf( ) @@ -146364,7 +146357,7 @@ SubClassOf( "eom:095679c21044c851") "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.") AnnotationAssertion( "SNOMEDCT_US:204245004") AnnotationAssertion( "UMLS:C0266609") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra cartilage in front of the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra cartilage in front of the ear") AnnotationAssertion( "Accessory Tragus") AnnotationAssertion( "Pretragal Duplication") AnnotationAssertion(rdfs:comment "Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia.") @@ -146391,14 +146384,14 @@ SubClassOf( "A morphological anomaly of the nasal cartilage.") AnnotationAssertion( "UMLS:C4022670") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cartilage of nose") -AnnotationAssertion(Annotation( ) "Abnormality of the nasal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cartilage of nose") +AnnotationAssertion(Annotation( ) "Abnormality of the nasal cartilage") AnnotationAssertion(Annotation( ) "Anomaly of cartilage of nose") AnnotationAssertion(Annotation( ) "Anomaly of nasal cartilage") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of cartilage of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of nasal cartilage") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of cartilage of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of nasal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of cartilage of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of nasal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of cartilage of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of nasal cartilage") AnnotationAssertion(rdfs:label "Abnormal nasal cartilage morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -146410,14 +146403,14 @@ AnnotationAssertion( "SNOMEDCT_US:232381002") AnnotationAssertion( "UMLS:C4022669") AnnotationAssertion( "UMLS:C4082198") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent cartilage of nose") -AnnotationAssertion(Annotation( ) "Absent nasal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent cartilage of nose") +AnnotationAssertion(Annotation( ) "Absent nasal cartilage") AnnotationAssertion(Annotation( ) "Agenesis of cartilage of nose") AnnotationAssertion(Annotation( ) "Agenesis of nasal cartilage") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of cartilage of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nasal cartilage") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing cartilage of nose") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing nasal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of cartilage of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of nasal cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing cartilage of nose") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing nasal cartilage") AnnotationAssertion(rdfs:comment "This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately.") AnnotationAssertion(rdfs:label "Absent nasal cartilage") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -146427,8 +146420,8 @@ SubClassOf( "PMID:19125433") Annotation( "eom:ebc67f029da3caac") "Divergence of digits along the A/P axis (in the plane of the palm).") AnnotationAssertion( "UMLS:C4021057") -AnnotationAssertion(Annotation( ) "Splayed fingers") -AnnotationAssertion(Annotation( ) "Spreading of the fingers") +AnnotationAssertion(Annotation( ) "Splayed fingers") +AnnotationAssertion(Annotation( ) "Spreading of the fingers") AnnotationAssertion(rdfs:comment "This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified.") AnnotationAssertion(rdfs:label "Splayed fingers") SubClassOf( ) @@ -146445,7 +146438,7 @@ SubClassOf( "PMID:19125433") Annotation( "eom:4d06c726e63758c5") "Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.") AnnotationAssertion( "UMLS:C4022667") -AnnotationAssertion(Annotation( ) "Small toe") +AnnotationAssertion(Annotation( ) "Small toe") AnnotationAssertion(rdfs:comment "This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered.") AnnotationAssertion(rdfs:label "Small toe") SubClassOf( ) @@ -146454,7 +146447,7 @@ SubClassOf( "PMID:19125433") Annotation( "eom:6a2c173d3d7e3219") "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.") AnnotationAssertion( "UMLS:C4022666") -AnnotationAssertion(Annotation( ) "Partial absence of foot") +AnnotationAssertion(Annotation( ) "Partial absence of foot") AnnotationAssertion(rdfs:label "Partial absence of foot") SubClassOf( ) @@ -146463,7 +146456,7 @@ SubClassOf( "PMID:19125433") Annotation( "eom:5b823be1388221a1") "Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.") AnnotationAssertion( "SNOMEDCT_US:299058009") AnnotationAssertion( "UMLS:C0575827") -AnnotationAssertion(Annotation( ) "Small finger") +AnnotationAssertion(Annotation( ) "Small finger") AnnotationAssertion(rdfs:comment "This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5.") AnnotationAssertion(rdfs:label "Small finger") SubClassOf( ) @@ -146543,7 +146536,7 @@ SubClassOf( "Failure to complete ossification (maturation and calcification) of the pubic bone.") AnnotationAssertion( "SNOMEDCT_US:373940002") AnnotationAssertion( "UMLS:C0685678") -AnnotationAssertion(Annotation( ) Annotation( ) "Incomplete maturation of the pubic bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Incomplete maturation of the pubic bone") AnnotationAssertion(rdfs:label "Incomplete ossification of pubis") SubClassOf( ) @@ -146552,7 +146545,7 @@ SubClassOf( "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.") AnnotationAssertion( "SNOMEDCT_US:263057000") AnnotationAssertion( "UMLS:C0434785") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial hip dislocation") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial hip dislocation") AnnotationAssertion( "Subluxation involving the hip joint") AnnotationAssertion(rdfs:label "Hip subluxation") SubClassOf( ) @@ -146569,7 +146562,7 @@ SubClassOf( "PMID:21712856") Annotation( "PMID:3409932") "Elongated curved (S-shaped) fibulae.") AnnotationAssertion( "UMLS:C3805325") -AnnotationAssertion(Annotation( ) Annotation( ) "S-shaped calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "S-shaped calf bone") AnnotationAssertion(rdfs:label "Serpentine fibula") SubClassOf( ) @@ -146606,7 +146599,7 @@ AnnotationAssertion( "MSH:D001922") AnnotationAssertion( "SNOMEDCT_US:441806004") AnnotationAssertion( "UMLS:C0006105") -AnnotationAssertion(Annotation( ) "Brain abscess") +AnnotationAssertion(Annotation( ) "Brain abscess") AnnotationAssertion(rdfs:comment "Brain abscess usually results from a bacterial or fungal infection.") AnnotationAssertion(rdfs:label "Brain abscess") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -146630,8 +146623,8 @@ AnnotationAssertion( "HP:0040083") AnnotationAssertion( "UMLS:C1843570") AnnotationAssertion( "Tiptoe gait") -AnnotationAssertion(Annotation( ) "Toe walking") -AnnotationAssertion(Annotation( ) "Walking on tiptoes") +AnnotationAssertion(Annotation( ) "Toe walking") +AnnotationAssertion(Annotation( ) "Walking on tiptoes") AnnotationAssertion(rdfs:comment "Tip-toe walking (or simply toe-walking) is common in healthy young children, and should resolve spontaneously by 3 years of age. After this age, tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases.") AnnotationAssertion(rdfs:label "Tip-toe gait") SubClassOf( ) @@ -146640,7 +146633,7 @@ SubClassOf( "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.") AnnotationAssertion( "UMLS:C1834297") -AnnotationAssertion(Annotation( ) Annotation( ) "Freckles in groin region") +AnnotationAssertion(Annotation( ) Annotation( ) "Freckles in groin region") AnnotationAssertion(rdfs:label "Inguinal freckling") SubClassOf( ) @@ -146649,7 +146642,7 @@ SubClassOf( "An induration (hardening) of the skin") AnnotationAssertion( "UMLS:C3276815") AnnotationAssertion( "Indurated skin") -AnnotationAssertion(Annotation( ) "Stiff skin") +AnnotationAssertion(Annotation( ) "Stiff skin") AnnotationAssertion(rdfs:label "Stiff skin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -146672,7 +146665,7 @@ SubClassOf( "Hair that is disorderly, stands out from the scalp, and cannot be combed flat.") AnnotationAssertion( "UMLS:C1860607") -AnnotationAssertion(Annotation( ) "Uncombable hair") +AnnotationAssertion(Annotation( ) "Uncombable hair") AnnotationAssertion(rdfs:label "Uncombable hair") SubClassOf( ) @@ -146926,7 +146919,7 @@ SubClassOf( "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.") AnnotationAssertion( "UMLS:C4022657") -AnnotationAssertion(Annotation( ) "Abnormal drinking behavior") +AnnotationAssertion(Annotation( ) "Abnormal drinking behavior") AnnotationAssertion(Annotation( ) "Abnormal drinking behaviour") AnnotationAssertion(rdfs:comment "Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder.") AnnotationAssertion(rdfs:label "Abnormal drinking behavior") @@ -146937,7 +146930,7 @@ SubClassOf( "An excessive desire to eat salt (sodium chloride) or salty foods.") AnnotationAssertion( "UMLS:C0240928") -AnnotationAssertion(Annotation( ) "Salt craving") +AnnotationAssertion(Annotation( ) "Salt craving") AnnotationAssertion(rdfs:comment "Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases.") AnnotationAssertion(rdfs:label "Salt craving") SubClassOf( ) @@ -146945,11 +146938,11 @@ SubClassOf( (Clinodactyly) AnnotationAssertion(Annotation( "PMID:16252026") "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).") -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of digit") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of digit") AnnotationAssertion( "SNOMEDCT_US:17268007") AnnotationAssertion( "UMLS:C0265610") AnnotationAssertion( "UMLS:C4280304") -AnnotationAssertion(Annotation( ) Annotation( ) "Permanent curving of the finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Permanent curving of the finger") AnnotationAssertion(rdfs:label "Clinodactyly") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -146976,7 +146969,7 @@ SubClassOf( "An anomalous concentration of testosterone in the blood.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal testosterone level") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal testosterone level") AnnotationAssertion( "SNOMEDCT_US:166458009") AnnotationAssertion( "UMLS:C0580454") AnnotationAssertion( "UMLS:C4022654") @@ -146989,7 +146982,7 @@ SubClassOf( "An elevated circulating testosterone level in the blood.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Increased testosterone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased testosterone") AnnotationAssertion( "UMLS:C0241358") AnnotationAssertion( "UMLS:C4072885") AnnotationAssertion(Annotation( ) "High serum testosterone level") @@ -147388,7 +147381,7 @@ SubClassOf( "Bleeding that persists for a longer than usual time following circumcision.") AnnotationAssertion( "UMLS:C4022611") -AnnotationAssertion(Annotation( ) "Prolonged bleeding following circumcision") +AnnotationAssertion(Annotation( ) "Prolonged bleeding following circumcision") AnnotationAssertion(rdfs:label "Prolonged bleeding following circumcision") SubClassOf( ) @@ -147396,7 +147389,7 @@ SubClassOf( "HPO_CONTRIBUTOR:cmiller") "An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.") AnnotationAssertion( "UMLS:C4022610") -AnnotationAssertion(Annotation( ) "Excessive bleeding from superficial cuts") +AnnotationAssertion(Annotation( ) "Excessive bleeding from superficial cuts") AnnotationAssertion(rdfs:label "Excessive bleeding from superficial cuts") SubClassOf( ) @@ -147411,8 +147404,8 @@ SubClassOf( "HPO_CONTRIBUTOR:cmiller") "Recurrent or excessive bleeding from the mouth.") AnnotationAssertion( "UMLS:C4022608") -AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding from mouth") -AnnotationAssertion(Annotation( ) "Oral cavity bleeding") +AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding from mouth") +AnnotationAssertion(Annotation( ) "Oral cavity bleeding") AnnotationAssertion(Annotation( ) "Oral cavity haemorrhage") AnnotationAssertion(Annotation( ) "Oral cavity hemorrhage") AnnotationAssertion(rdfs:label "Oral cavity bleeding") @@ -147423,7 +147416,7 @@ SubClassOf( ) "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.") AnnotationAssertion( "UMLS:C4022607") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hairline at back of head") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of hairline at back of head") AnnotationAssertion(rdfs:label "Abnormality of the posterior hairline") SubClassOf( ) @@ -147432,7 +147425,7 @@ SubClassOf( "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.") AnnotationAssertion( "SNOMEDCT_US:60612008") AnnotationAssertion( "UMLS:C0159060") -AnnotationAssertion(Annotation( ) "Abnormal bowel sounds") +AnnotationAssertion(Annotation( ) "Abnormal bowel sounds") AnnotationAssertion(rdfs:label "Abnormal bowel sounds") SubClassOf( ) @@ -147442,7 +147435,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:18101008") AnnotationAssertion( "UMLS:C0232694") AnnotationAssertion( "Borborygmi") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bowel sounds") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bowel sounds") AnnotationAssertion(rdfs:label "Hyperactive bowel sounds") SubClassOf( ) @@ -147451,7 +147444,7 @@ SubClassOf( ) "An decreased amount of bowel sounds.") AnnotationAssertion( "SNOMEDCT_US:15280003") AnnotationAssertion( "UMLS:C0232695") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased bowel sounds") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased bowel sounds") AnnotationAssertion(rdfs:label "Hypoactive bowel sounds") SubClassOf( ) @@ -147459,7 +147452,7 @@ SubClassOf( ) "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.") AnnotationAssertion( "UMLS:C4022606") -AnnotationAssertion(Annotation( ) "Lack of bowel sounds") +AnnotationAssertion(Annotation( ) "Lack of bowel sounds") AnnotationAssertion(rdfs:comment "This feature reflects lack of intestinal activity.") AnnotationAssertion(rdfs:label "Lack of bowel sounds") SubClassOf( ) @@ -147489,8 +147482,8 @@ AnnotationAssertion( "UMLS:C0018808") AnnotationAssertion( "Cardiac murmur") AnnotationAssertion( "Cardiac murmurs") -AnnotationAssertion(Annotation( ) "Heart murmur") -AnnotationAssertion(Annotation( ) "Heart murmurs") +AnnotationAssertion(Annotation( ) "Heart murmur") +AnnotationAssertion(Annotation( ) "Heart murmurs") AnnotationAssertion(rdfs:comment "Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc).") AnnotationAssertion(rdfs:label "Heart murmur") SubClassOf( ) @@ -147520,7 +147513,7 @@ AnnotationAssertion(Annotation( "MSH:D002761") AnnotationAssertion( "SNOMEDCT_US:82403002") AnnotationAssertion( "UMLS:C0008311") -AnnotationAssertion(Annotation( ) "Bile duct inflammation") +AnnotationAssertion(Annotation( ) "Bile duct inflammation") AnnotationAssertion(rdfs:comment "Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis.") AnnotationAssertion(rdfs:label "Cholangitis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -147541,7 +147534,7 @@ AnnotationAssertion( "SNOMEDCT_US:312104005") AnnotationAssertion( "SNOMEDCT_US:70179006") AnnotationAssertion( "UMLS:C0206698") -AnnotationAssertion(Annotation( ) Annotation( ) "Bile duct cancer") +AnnotationAssertion(Annotation( ) Annotation( ) "Bile duct cancer") AnnotationAssertion(rdfs:label "Cholangiocarcinoma") SubClassOf( ) @@ -147561,7 +147554,7 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.") AnnotationAssertion( "SNOMEDCT_US:20502007") AnnotationAssertion( "UMLS:C0236078") -AnnotationAssertion(Annotation( ) "Scrotal pain") +AnnotationAssertion(Annotation( ) "Scrotal pain") AnnotationAssertion(rdfs:label "Scrotal pain") SubClassOf( ) SubClassOf( ) @@ -147578,11 +147571,11 @@ SubClassOf( (Flank pain) AnnotationAssertion( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.") -AnnotationAssertion(Annotation( ) "Kidney pain") +AnnotationAssertion(Annotation( ) "Kidney pain") AnnotationAssertion( "MSH:D021501") AnnotationAssertion( "SNOMEDCT_US:247355005") AnnotationAssertion( "UMLS:C0016199") -AnnotationAssertion(Annotation( ) "Flank pain") +AnnotationAssertion(Annotation( ) "Flank pain") AnnotationAssertion(rdfs:comment "The flank is the area on the side of the abdomen between the ribs and the hip.") AnnotationAssertion(rdfs:label "Flank pain") SubClassOf( ) @@ -147609,7 +147602,7 @@ AnnotationAssertion( "SNOMEDCT_US:65576009") AnnotationAssertion( "UMLS:C0007855") AnnotationAssertion( "UMLS:C0007873") -AnnotationAssertion(Annotation( ) Annotation( ) "Cervical tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Cervical tumor") AnnotationAssertion(Annotation( ) "Cervical tumour") AnnotationAssertion(rdfs:label "Cervical polyp") SubClassOf( ) @@ -147621,7 +147614,7 @@ AnnotationAssertion( "SNOMEDCT_US:37610005") AnnotationAssertion( "UMLS:C0007860") AnnotationAssertion( "Uterine cervicitis") -AnnotationAssertion(Annotation( ) Annotation( ) "Uterine cervix inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Uterine cervix inflammation") AnnotationAssertion(rdfs:comment "Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology.") AnnotationAssertion(rdfs:label "Cervicitis") SubClassOf( ) @@ -147658,7 +147651,7 @@ SubClassOf( ) Annotation( "PMID:12972467") "Pain in the jaw or ear induced by chewing or otherwise moving the jaw.") AnnotationAssertion( "SNOMEDCT_US:43922008") AnnotationAssertion( "UMLS:C0239064") -AnnotationAssertion(Annotation( ) Annotation( ) "Jaw pain while chewing") +AnnotationAssertion(Annotation( ) Annotation( ) "Jaw pain while chewing") AnnotationAssertion(rdfs:label "Jaw claudication") SubClassOf( ) @@ -147674,7 +147667,7 @@ SubClassOf( ) Annotation( "PMID:23136329") "Occurrence of excessive sweating during sleep.") AnnotationAssertion( "SNOMEDCT_US:42984000") AnnotationAssertion( "UMLS:C0028081") -AnnotationAssertion(Annotation( ) "Night sweats") +AnnotationAssertion(Annotation( ) "Night sweats") AnnotationAssertion( "Nocturnal hyperhidrosis") AnnotationAssertion(rdfs:comment "Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections.") AnnotationAssertion(rdfs:label "Night sweats") @@ -147857,7 +147850,7 @@ SubClassOf( ) "Tremor classified by the affected body part.") AnnotationAssertion( "UMLS:C4022593") -AnnotationAssertion(Annotation( ) Annotation( ) "Tremor of a body part") +AnnotationAssertion(Annotation( ) Annotation( ) "Tremor of a body part") AnnotationAssertion(rdfs:label "Tremor by anatomical site") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -148045,7 +148038,7 @@ AnnotationAssertion(dcterms:contributor "SNOMEDCT_US:247968005") AnnotationAssertion( "UMLS:C0424290") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Collecting") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Compulsive hoarding") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Compulsive hoarding") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Hoarding") AnnotationAssertion(rdfs:label "Collectionism") SubClassOf( ) @@ -148064,7 +148057,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:73744004") AnnotationAssertion( "UMLS:C0312420") AnnotationAssertion( "UMLS:C0679145") -AnnotationAssertion(Annotation( ) Annotation( ) "Sex addiction") +AnnotationAssertion(Annotation( ) Annotation( ) "Sex addiction") AnnotationAssertion(rdfs:label "Hypersexuality") SubClassOf( ) @@ -148072,7 +148065,7 @@ SubClassOf( "HPO_CONTRIBUTOR:ICM_PCaroppo") "Uncontrolled episodes of crying, without apparent motivating stimuli.") AnnotationAssertion( "UMLS:C0860609") -AnnotationAssertion(Annotation( ) "Inappropriate crying") +AnnotationAssertion(Annotation( ) "Inappropriate crying") AnnotationAssertion(rdfs:label "Inappropriate crying") SubClassOf( ) @@ -148103,7 +148096,7 @@ AnnotationAssertion(Annotation( "MSH:D057180") AnnotationAssertion( "SNOMEDCT_US:230288001") AnnotationAssertion( "UMLS:C0338462") -AnnotationAssertion(Annotation( ) "Trouble remembering words") +AnnotationAssertion(Annotation( ) "Trouble remembering words") AnnotationAssertion(rdfs:label "Semantic dementia") SubClassOf( ) @@ -148111,7 +148104,7 @@ SubClassOf( "HPO_CONTRIBUTOR:ICM_PCaroppo") "Behavior that is not in line with social norms.") AnnotationAssertion( "UMLS:C2220010") -AnnotationAssertion(Annotation( ) "Socially inappropriate behavior") +AnnotationAssertion(Annotation( ) "Socially inappropriate behavior") AnnotationAssertion(Annotation( ) "Socially inappropriate behaviour") AnnotationAssertion(rdfs:label "Socially inappropriate behavior") SubClassOf( ) @@ -148120,7 +148113,7 @@ SubClassOf( "HPO_CONTRIBUTOR:ICM_PCaroppo") "Excessive desire to eat sweet foods.") AnnotationAssertion( "UMLS:C0241314") -AnnotationAssertion(Annotation( ) "Sweet craving") +AnnotationAssertion(Annotation( ) "Sweet craving") AnnotationAssertion(rdfs:label "Sweet craving") SubClassOf( ) @@ -148258,7 +148251,7 @@ SubClassOf( ) "Abnormalities of the overall muscle bulk based on clinical observation.") AnnotationAssertion( "UMLS:C4022563") -AnnotationAssertion(Annotation( ) "Abnormality of muscle size") +AnnotationAssertion(Annotation( ) "Abnormality of muscle size") AnnotationAssertion(rdfs:label "Abnormality of muscle size") SubClassOf( ) @@ -148267,7 +148260,7 @@ SubClassOf( ) "Reduced strength of the musculature of the hand.") AnnotationAssertion( "SNOMEDCT_US:298283006") AnnotationAssertion( "UMLS:C0239831") -AnnotationAssertion(Annotation( ) "Hand muscle weakness") +AnnotationAssertion(Annotation( ) "Hand muscle weakness") AnnotationAssertion(rdfs:label "Hand muscle weakness") SubClassOf( ) @@ -148275,7 +148268,7 @@ SubClassOf( ) "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.") AnnotationAssertion( "UMLS:C4022562") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped upper arm muscles") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped upper arm muscles") AnnotationAssertion(rdfs:label "Hypoplasia of the upper arm musculature") SubClassOf( ) @@ -148295,7 +148288,7 @@ SubClassOf( ) Annotation( "PMID:21960890") "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.") AnnotationAssertion( "SNOMEDCT_US:17920008") AnnotationAssertion( "UMLS:C0155773") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in portal vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in portal vein") AnnotationAssertion(rdfs:comment "Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion.") AnnotationAssertion(rdfs:label "Portal vein thrombosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -148308,7 +148301,7 @@ AnnotationAssertion(Annotation( "MSH:D006502") AnnotationAssertion( "SNOMEDCT_US:38739001") AnnotationAssertion( "UMLS:C0019154") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in liver vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in liver vein") AnnotationAssertion( "Hepatic venous thrombosis") AnnotationAssertion(rdfs:label "Hepatic vein thrombosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -148328,7 +148321,7 @@ SubClassOf( ) Annotation( "PMID:11430951") Annotation( "PMID:8135133") "The occurence of maternal fever during labor.") AnnotationAssertion( "UMLS:C3829514") -AnnotationAssertion(Annotation( ) Annotation( ) "Maternal fever during labor") +AnnotationAssertion(Annotation( ) Annotation( ) "Maternal fever during labor") AnnotationAssertion(Annotation( ) "Maternal fever during labour") AnnotationAssertion(rdfs:comment "Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality.") AnnotationAssertion(rdfs:label "Intrapartum fever") @@ -148425,7 +148418,7 @@ SubClassOf( ) Annotation( "PMID:23650202") "One or more brown punctate macules on the skin of the genitalia.") AnnotationAssertion( "UMLS:C4021040") -AnnotationAssertion(Annotation( ) "Freckled genitalia") +AnnotationAssertion(Annotation( ) "Freckled genitalia") AnnotationAssertion( "Genitalia, ephelides") AnnotationAssertion(rdfs:comment "This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s).") AnnotationAssertion(rdfs:label "Freckled genitalia") @@ -148436,7 +148429,7 @@ SubClassOf( "Localized or generalized increased genital pigmentation.") AnnotationAssertion( "UMLS:C4020713") AnnotationAssertion( "UMLS:C4022554") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased genital pigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased genital pigmentation") AnnotationAssertion( "Penile melanosis") AnnotationAssertion(rdfs:comment "This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s).") AnnotationAssertion(rdfs:label "Hyperpigmented genitalia") @@ -148446,7 +148439,7 @@ SubClassOf( ) Annotation( "PMID:23650202") "Localized or generalized decreased genital pigmentation.") AnnotationAssertion( "UMLS:C4022553") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased genital pigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased genital pigmentation") AnnotationAssertion(rdfs:comment "This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation.") AnnotationAssertion(rdfs:label "Hypopigmented genitalia") SubClassOf( ) @@ -148467,7 +148460,7 @@ AnnotationAssertion( "SNOMEDCT_US:204908001") AnnotationAssertion( "SNOMEDCT_US:59981001") AnnotationAssertion( "UMLS:C0555231") -AnnotationAssertion(Annotation( ) "Absent penis") +AnnotationAssertion(Annotation( ) "Absent penis") AnnotationAssertion( "Aphallia") AnnotationAssertion( "Aplasia of the penis") AnnotationAssertion( "Penis aplasia") @@ -148480,7 +148473,7 @@ SubClassOf( ) Annotation( "PMID:23650202") "Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.") AnnotationAssertion( "UMLS:C4022552") -AnnotationAssertion(Annotation( ) "Narrow penis") +AnnotationAssertion(Annotation( ) "Narrow penis") AnnotationAssertion(rdfs:comment "Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis.") AnnotationAssertion(rdfs:label "Narrow penis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -148499,7 +148492,7 @@ SubClassOf( "PMID:23650202") "Ventral skinfold extending from penis to scrotum.") AnnotationAssertion( "SNOMEDCT_US:253852007") AnnotationAssertion( "UMLS:C0431670") -AnnotationAssertion(Annotation( ) "Webbed penis") +AnnotationAssertion(Annotation( ) "Webbed penis") AnnotationAssertion(rdfs:comment "The distal limit of the skinfold can be located on the penile shaft or the tip of the penis.") AnnotationAssertion(rdfs:label "Webbed penis") SubClassOf( ) @@ -148508,7 +148501,7 @@ SubClassOf( "PMID:23650202") "Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.") AnnotationAssertion( "UMLS:C4022551") -AnnotationAssertion(Annotation( ) "Wide penis") +AnnotationAssertion(Annotation( ) "Wide penis") AnnotationAssertion(rdfs:label "Wide penis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -148577,7 +148570,7 @@ SubClassOf( "PMID:23650202") "Additional scrotum, or part of a scrotum in an abnormal location.") AnnotationAssertion( "UMLS:C4022543") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra scrotum") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra scrotum") AnnotationAssertion(rdfs:comment "An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately.") AnnotationAssertion(rdfs:label "Accessory scrotum") SubClassOf( ) @@ -148586,7 +148579,7 @@ SubClassOf( "PMID:23650202") "Scrotum in a position other than the usual position inferior to the base of the penis.") AnnotationAssertion( "UMLS:C4022542") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal scrotum position") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal scrotum position") AnnotationAssertion(rdfs:comment "This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations.") AnnotationAssertion(rdfs:label "Ectopic scrotum") SubClassOf( ) @@ -148626,7 +148619,7 @@ SubClassOf( ) "Radiolucent focal defect of a rib shaft.") AnnotationAssertion( "SNOMEDCT_US:249705009") AnnotationAssertion( "UMLS:C0426827") -AnnotationAssertion(Annotation( ) "Rib gap") +AnnotationAssertion(Annotation( ) "Rib gap") AnnotationAssertion(rdfs:comment "A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections.") AnnotationAssertion(rdfs:label "Rib gap") SubClassOf( ) @@ -148659,8 +148652,8 @@ SubClassOf( "HPO_CONTRIBUTOR:UToronto_bgallinger") "A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.") AnnotationAssertion( "UMLS:C4022537") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangle shaped tongue") -AnnotationAssertion(Annotation( ) "Triangular tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangle shaped tongue") +AnnotationAssertion(Annotation( ) "Triangular tongue") AnnotationAssertion(rdfs:label "Triangular tongue") SubClassOf( ) @@ -148684,7 +148677,7 @@ SubClassOf( ) "An abnormal flattening of an epiphysis of femur.") AnnotationAssertion( "UMLS:C1850642") -AnnotationAssertion(Annotation( ) Annotation( ) "Flattended end part of thigh bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flattended end part of thigh bone") AnnotationAssertion(rdfs:label "Flattened femoral epiphysis") SubClassOf( ) @@ -148717,7 +148710,7 @@ SubClassOf( ) "Irregularity of the normally smooth surface of a metaphysis of a fibula.") AnnotationAssertion( "UMLS:C4022532") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregularity of wide portion of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregularity of wide portion of calf bone") AnnotationAssertion(rdfs:label "Fibular metaphyseal irregularity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -148756,7 +148749,7 @@ SubClassOf( ) "An anomaly of the metaphysis of the distal femur (close to the knee).") AnnotationAssertion( "UMLS:C4022527") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of wide portion of outermost thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of wide portion of outermost thighbone") AnnotationAssertion(rdfs:label "Distal femoral metaphyseal abnormality") SubClassOf( ) @@ -148764,7 +148757,7 @@ SubClassOf( "HPO_CONTRIBUTOR:UToronto_bgallinger") "Presence of only 10 (instead of the usual 12) pairs of ribs.") AnnotationAssertion( "UMLS:C4022526") -AnnotationAssertion(Annotation( ) "10 pairs of ribs") +AnnotationAssertion(Annotation( ) "10 pairs of ribs") AnnotationAssertion(rdfs:label "10 pairs of ribs") SubClassOf( ) @@ -148833,7 +148826,7 @@ SubClassOf( ) "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.") AnnotationAssertion( "UMLS:C4022518") -AnnotationAssertion(Annotation( ) Annotation( ) "Flared outermost wide portion of of calf bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Flared outermost wide portion of of calf bone") AnnotationAssertion(rdfs:label "Flared distal fibular metaphysis") SubClassOf( ) @@ -148841,7 +148834,7 @@ SubClassOf( ) "Displacement or malalignment of one or more joints in the upper extremity (arm).") AnnotationAssertion( "UMLS:C4022517") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated arm joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated arm joints") AnnotationAssertion(rdfs:label "Upper extremity joint dislocation") SubClassOf( ) @@ -148849,7 +148842,7 @@ SubClassOf( ) "Displacement or malalignment of one or more joints in the lower extremity (leg).") AnnotationAssertion( "UMLS:C4022516") -AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated leg joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated leg joints") AnnotationAssertion(rdfs:label "Lower extremity joint dislocation") SubClassOf( ) @@ -148886,9 +148879,9 @@ AnnotationAssertion( "Angular cheilosis") AnnotationAssertion( "Angular stomatitis") AnnotationAssertion( "Commissural cheilitis") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of corners of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of corners of the mouth") AnnotationAssertion(Annotation( ) "Inflammation of oral commisures") -AnnotationAssertion(Annotation( ) Annotation( ) "Red and sore corners of the mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Red and sore corners of the mouth") AnnotationAssertion(rdfs:label "Angular cheilitis") SubClassOf( ) @@ -148896,15 +148889,15 @@ SubClassOf( ) "Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).") AnnotationAssertion( "UMLS:C4022514") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial muscle strength") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased strength of facial muscles") -AnnotationAssertion(Annotation( ) "Face weakness") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial muscle weakness") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial weakness") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased facial muscle strength") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased strength of facial muscles") +AnnotationAssertion(Annotation( ) "Face weakness") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial muscle weakness") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial weakness") AnnotationAssertion(Annotation( ) "Myasthenia of facial muscles") -AnnotationAssertion(Annotation( ) Annotation( ) "Reduced facial muscle strength") -AnnotationAssertion(Annotation( ) "Weakness of face") -AnnotationAssertion(Annotation( ) "Weakness of facial musculature") +AnnotationAssertion(Annotation( ) Annotation( ) "Reduced facial muscle strength") +AnnotationAssertion(Annotation( ) "Weakness of face") +AnnotationAssertion(Annotation( ) "Weakness of facial musculature") AnnotationAssertion(rdfs:label "Weakness of facial musculature") SubClassOf( ) @@ -148979,7 +148972,7 @@ SubClassOf( ) "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).") AnnotationAssertion( "UMLS:C3549703") -AnnotationAssertion(Annotation( ) "Retinal thinning") +AnnotationAssertion(Annotation( ) "Retinal thinning") AnnotationAssertion(rdfs:label "Retinal thinning") SubClassOf( ) @@ -149690,7 +149683,7 @@ AnnotationAssertion( "SNOMEDCT_US:126922007") AnnotationAssertion( "UMLS:C0042995") AnnotationAssertion( "Neoplasm of the vulva") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the vulva") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the vulva") AnnotationAssertion(Annotation( ) "Tumour of the vulva") AnnotationAssertion(rdfs:label "Vulvar neoplasm") SubClassOf( ) @@ -149750,7 +149743,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) Annotation( "PMID:24794024") "A closed sac located in the spleen.") AnnotationAssertion( "SNOMEDCT_US:79040006") AnnotationAssertion( "UMLS:C0272407") -AnnotationAssertion(Annotation( ) Annotation( ) "Cyst on spleen") +AnnotationAssertion(Annotation( ) Annotation( ) "Cyst on spleen") AnnotationAssertion(rdfs:label "Splenic cyst") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -149823,9 +149816,9 @@ AnnotationAssertion( "SNOMEDCT_US:84116009") AnnotationAssertion( "UMLS:C0027858") AnnotationAssertion( "UMLS:C0273482") -AnnotationAssertion(Annotation( ) Annotation( "http://www.apma.org/learn/foothealth.cfm?itemnumber=987") Annotation( ) "Nerve tumor") +AnnotationAssertion(Annotation( ) Annotation( "http://www.apma.org/learn/foothealth.cfm?itemnumber=987") Annotation( ) "Nerve tumor") AnnotationAssertion(Annotation( ) "Nerve tumour") -AnnotationAssertion(Annotation( ) Annotation( "http://www.apma.org/learn/foothealth.cfm?itemnumber=987") Annotation( ) "Pinched nerve") +AnnotationAssertion(Annotation( ) Annotation( "http://www.apma.org/learn/foothealth.cfm?itemnumber=987") Annotation( ) "Pinched nerve") AnnotationAssertion(rdfs:label "Neuroma") SubClassOf( ) @@ -149888,7 +149881,7 @@ SubClassOf( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126850006") AnnotationAssertion( "UMLS:C0345883") -AnnotationAssertion(Annotation( ) Annotation( ) "Anal canal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Anal canal tumor") AnnotationAssertion(Annotation( ) "Anal canal tumour") AnnotationAssertion(rdfs:label "Anal canal neoplasm") SubClassOf( ) @@ -150433,7 +150426,7 @@ AnnotationAssertion(Annotation( "MSH:C564243") AnnotationAssertion( "SNOMEDCT_US:711163009") AnnotationAssertion( "UMLS:C1842073") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty seeing moving objects") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty seeing moving objects") AnnotationAssertion(rdfs:label "Bradyopsia") SubClassOf( ) @@ -150462,7 +150455,7 @@ AnnotationAssertion( "UMLS:C1301510") AnnotationAssertion( "Moderate reduction in visual acuity") AnnotationAssertion( "Moderate vision loss") -AnnotationAssertion(Annotation( ) "Moderate visual impairment") +AnnotationAssertion(Annotation( ) "Moderate visual impairment") AnnotationAssertion( "Moderate visual loss") AnnotationAssertion(rdfs:label "Moderately reduced visual acuity") SubClassOf( ) @@ -150581,7 +150574,7 @@ SubClassOf( (Arcuate scotoma) -AnnotationAssertion(Annotation( ) Annotation( ) "Arc-shaped blind spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Arc-shaped blind spot") AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:15462009") AnnotationAssertion( "UMLS:C0271198") @@ -152265,9 +152258,9 @@ AnnotationAssertion( "SNOMEDCT_US:16001004") AnnotationAssertion( "SNOMEDCT_US:162356005") AnnotationAssertion( "UMLS:C0013456") -AnnotationAssertion(Annotation( ) "Ear pain") +AnnotationAssertion(Annotation( ) "Ear pain") AnnotationAssertion( "Otalgia") -AnnotationAssertion(Annotation( ) "Pain in the ear") +AnnotationAssertion(Annotation( ) "Pain in the ear") AnnotationAssertion(rdfs:label "Ear pain") SubClassOf( ) SubClassOf( ) @@ -152415,7 +152408,7 @@ AnnotationAssertion( "Amnestic aphasia") AnnotationAssertion( "Anomia") AnnotationAssertion( "Nominal aphasia") -AnnotationAssertion(Annotation( ) "Word-finding difficulty") +AnnotationAssertion(Annotation( ) "Word-finding difficulty") AnnotationAssertion(rdfs:label "Anomic aphasia") SubClassOf( ) @@ -152780,9 +152773,9 @@ AnnotationAssertion(Annotation( "UMLS:C4280682") AnnotationAssertion( "Eyelid fluttering") AnnotationAssertion( "Fasciculation of the eyelid") -AnnotationAssertion(Annotation( ) "Muscle twitches in eye lid") -AnnotationAssertion(Annotation( ) "Muscle twitches in eyelid") -AnnotationAssertion(Annotation( ) "Twitching around eyes") +AnnotationAssertion(Annotation( ) "Muscle twitches in eye lid") +AnnotationAssertion(Annotation( ) "Muscle twitches in eyelid") +AnnotationAssertion(Annotation( ) "Twitching around eyes") AnnotationAssertion(rdfs:label "Eyelid fasciculation") SubClassOf( ) @@ -152792,7 +152785,7 @@ AnnotationAssertion(Annotation( "MSH:D012135") AnnotationAssertion( "SNOMEDCT_US:56018004") AnnotationAssertion( "UMLS:C0043144") -AnnotationAssertion(Annotation( ) "Wheezing") +AnnotationAssertion(Annotation( ) "Wheezing") AnnotationAssertion(rdfs:comment "Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less") AnnotationAssertion(rdfs:label "Wheezing") SubClassOf( ) @@ -152842,7 +152835,7 @@ AnnotationAssertion(Annotation( "MSH:D019547") AnnotationAssertion( "SNOMEDCT_US:81680005") AnnotationAssertion( "UMLS:C0007859") -AnnotationAssertion(Annotation( ) "Neck pain") +AnnotationAssertion(Annotation( ) "Neck pain") AnnotationAssertion(rdfs:label "Neck pain") SubClassOf( ) @@ -152852,7 +152845,7 @@ AnnotationAssertion(Annotation( "MSH:D020069") AnnotationAssertion( "SNOMEDCT_US:45326000") AnnotationAssertion( "UMLS:C0037011") -AnnotationAssertion(Annotation( ) "Shoulder pain") +AnnotationAssertion(Annotation( ) "Shoulder pain") AnnotationAssertion(rdfs:label "Shoulder pain") SubClassOf( ) @@ -152861,7 +152854,7 @@ SubClassOf( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.") AnnotationAssertion( "SNOMEDCT_US:74323005") AnnotationAssertion( "UMLS:C0239266") -AnnotationAssertion(Annotation( ) "Elbow pain") +AnnotationAssertion(Annotation( ) "Elbow pain") AnnotationAssertion(rdfs:label "Elbow pain") SubClassOf( ) @@ -152871,7 +152864,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:202482009") AnnotationAssertion( "SNOMEDCT_US:56608008") AnnotationAssertion( "UMLS:C0221785") -AnnotationAssertion(Annotation( ) "Wrist pain") +AnnotationAssertion(Annotation( ) "Wrist pain") AnnotationAssertion(rdfs:label "Wrist pain") SubClassOf( ) @@ -152880,7 +152873,7 @@ SubClassOf( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.") AnnotationAssertion( "SNOMEDCT_US:18876004") AnnotationAssertion( "UMLS:C0239589") -AnnotationAssertion(Annotation( ) "Finger pain") +AnnotationAssertion(Annotation( ) "Finger pain") AnnotationAssertion(rdfs:label "Finger pain") SubClassOf( ) @@ -152889,17 +152882,17 @@ SubClassOf( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.") AnnotationAssertion( "SNOMEDCT_US:49218002") AnnotationAssertion( "UMLS:C0019559") -AnnotationAssertion(Annotation( ) "Hip pain") +AnnotationAssertion(Annotation( ) "Hip pain") AnnotationAssertion(rdfs:label "Hip pain") SubClassOf( ) # Class: (Knee pain) AnnotationAssertion(Annotation( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.") -AnnotationAssertion(Annotation( ) "Pain under knee cap") +AnnotationAssertion(Annotation( ) "Pain under knee cap") AnnotationAssertion( "SNOMEDCT_US:30989003") AnnotationAssertion( "UMLS:C0231749") -AnnotationAssertion(Annotation( ) "Knee pain") +AnnotationAssertion(Annotation( ) "Knee pain") AnnotationAssertion(rdfs:label "Knee pain") SubClassOf( ) @@ -152909,7 +152902,7 @@ AnnotationAssertion( "SNOMEDCT_US:202490009") AnnotationAssertion( "SNOMEDCT_US:247373008") AnnotationAssertion( "UMLS:C0238656") -AnnotationAssertion(Annotation( ) "Ankle pain") +AnnotationAssertion(Annotation( ) "Ankle pain") AnnotationAssertion(rdfs:label "Ankle pain") SubClassOf( ) @@ -152918,7 +152911,7 @@ SubClassOf( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.") AnnotationAssertion( "SNOMEDCT_US:285365001") AnnotationAssertion( "UMLS:C0241416") -AnnotationAssertion(Annotation( ) "Toe pain") +AnnotationAssertion(Annotation( ) "Toe pain") AnnotationAssertion(rdfs:label "Toe pain") SubClassOf( ) @@ -153150,9 +153143,9 @@ SubClassOf( ) Annotation( "PMID:7795293") "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.") AnnotationAssertion( "SNOMEDCT_US:253243008") AnnotationAssertion( "UMLS:C0431460") -AnnotationAssertion(Annotation( ) "Eyes at different heights") -AnnotationAssertion(Annotation( ) "Misaligned eyes") -AnnotationAssertion(Annotation( ) "Unequal eye height") +AnnotationAssertion(Annotation( ) "Eyes at different heights") +AnnotationAssertion(Annotation( ) "Misaligned eyes") +AnnotationAssertion(Annotation( ) "Unequal eye height") AnnotationAssertion(rdfs:label "Vertical orbital dystopia") SubClassOf( ) @@ -153444,8 +153437,8 @@ SubClassOf( (Pruritus on foot) AnnotationAssertion( "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.") -AnnotationAssertion(Annotation( ) "Itchy feet") -AnnotationAssertion(Annotation( ) "Itchy foot") +AnnotationAssertion(Annotation( ) "Itchy feet") +AnnotationAssertion(Annotation( ) "Itchy foot") AnnotationAssertion(rdfs:label "Pruritus on foot") SubClassOf( ) @@ -153753,7 +153746,7 @@ SubClassOf( "Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.") AnnotationAssertion(dc:date "2017-01-13T20:21:47Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Bumps under the upper eyelid") +AnnotationAssertion(Annotation( ) "Bumps under the upper eyelid") AnnotationAssertion( "Tarsal papillae") AnnotationAssertion(rdfs:comment "Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease.") AnnotationAssertion(rdfs:label "Conjunctival papillae") @@ -154741,7 +154734,7 @@ SubClassOf( "A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.") AnnotationAssertion(dc:date "2017-05-27T17:57:13Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Cracked skin") +AnnotationAssertion(Annotation( ) "Cracked skin") AnnotationAssertion(rdfs:label "Skin fissure") SubClassOf( ) @@ -155021,7 +155014,7 @@ SubClassOf( "Fingers appear swollen and plump owing to inflammation of the complete finger.") AnnotationAssertion(dc:date "2017-05-29T00:57:56Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Sausage fingers") +AnnotationAssertion(Annotation( ) "Sausage fingers") AnnotationAssertion(rdfs:label "Finger dactylitis") SubClassOf( ) @@ -155030,7 +155023,7 @@ SubClassOf( "Toes appear swollen and plump owing to inflammation of the complete toe.") AnnotationAssertion(dc:date "2017-05-29T01:00:10Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Sausage toes") +AnnotationAssertion(Annotation( ) "Sausage toes") AnnotationAssertion(rdfs:label "Toe dactylitis") SubClassOf( ) @@ -156293,7 +156286,7 @@ AnnotationAssertion( "2017-08-12T13:19:10Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Cough with mucus production") -AnnotationAssertion(Annotation( ) "Wet cough") +AnnotationAssertion(Annotation( ) "Wet cough") AnnotationAssertion(rdfs:label "Productive cough") SubClassOf( ) @@ -156302,7 +156295,7 @@ SubClassOf( "A cough that does not produce phlegm or mucus.") AnnotationAssertion(dc:date "2017-08-12T13:19:10Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Dry cough") +AnnotationAssertion(Annotation( ) "Dry cough") AnnotationAssertion( "Dry coughing") AnnotationAssertion(rdfs:label "Nonproductive cough") SubClassOf( ) @@ -156321,7 +156314,7 @@ SubClassOf( ) "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.") AnnotationAssertion(dc:date "2017-08-12T13:33:52Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Itchy palm") +AnnotationAssertion(Annotation( ) "Itchy palm") AnnotationAssertion(rdfs:label "Palmar pruritus") SubClassOf( ) @@ -156330,10 +156323,10 @@ SubClassOf( "PMID:21075995") "A distortion of the sense of taste, often characterized by the sensation of a metallic taste.") AnnotationAssertion(dc:date "2017-08-12T13:35:52Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Altered sense of taste") +AnnotationAssertion(Annotation( ) "Altered sense of taste") AnnotationAssertion( "Dysgeusia") -AnnotationAssertion(Annotation( ) "Metallic taste") -AnnotationAssertion(Annotation( ) "Metallic taste in mouth") +AnnotationAssertion(Annotation( ) "Metallic taste") +AnnotationAssertion(Annotation( ) "Metallic taste in mouth") AnnotationAssertion(rdfs:label "Parageusia") SubClassOf( ) @@ -156416,7 +156409,7 @@ SubClassOf( "An inflammation of the ovary or ovaries.") AnnotationAssertion(dc:date "2017-08-12T16:02:34Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Inflammed ovary") +AnnotationAssertion(Annotation( ) "Inflammed ovary") AnnotationAssertion(rdfs:label "Oophoritis") SubClassOf( ) @@ -156648,7 +156641,7 @@ AnnotationAssertion(dc:date "2017-08 AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Basal cell papilloma") AnnotationAssertion( "Seborrheic verruca") -AnnotationAssertion(Annotation( ) "Senile wart") +AnnotationAssertion(Annotation( ) "Senile wart") AnnotationAssertion(rdfs:comment "Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens.") AnnotationAssertion(rdfs:label "Seborrheic keratosis") SubClassOf( ) @@ -156690,7 +156683,7 @@ SubClassOf( "A circumscribed area of pus or necrotic debris in the skin.") AnnotationAssertion(dc:date "2017-08-13T21:21:54Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Skin abscess") +AnnotationAssertion(Annotation( ) "Skin abscess") AnnotationAssertion(rdfs:label "Cutaneous abscess") SubClassOf( ) SubClassOf( ) @@ -157225,7 +157218,7 @@ SubClassOf( ) "Otitis media characterized by thick or sticky fluid behind the tympanic membrane.") AnnotationAssertion(dc:date "2017-08-27T14:53:18Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Fluid behind eardrum") +AnnotationAssertion(Annotation( ) "Fluid behind eardrum") AnnotationAssertion(rdfs:label "Otitis media with effusion") SubClassOf( ) @@ -157234,7 +157227,7 @@ SubClassOf( "Difficulty initiating sleep, that is, increased sleep onset latency.") AnnotationAssertion(dc:date "2017-08-27T15:00:50Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Difficulty falling asleep") +AnnotationAssertion(Annotation( ) "Difficulty falling asleep") AnnotationAssertion(rdfs:label "Sleep onset insomnia") SubClassOf( ) @@ -157243,7 +157236,7 @@ SubClassOf( "Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.") AnnotationAssertion(dc:date "2017-08-27T15:04:00Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Waking up several times during the night") +AnnotationAssertion(Annotation( ) "Waking up several times during the night") AnnotationAssertion(rdfs:label "Maintenance insomnia") SubClassOf( ) @@ -157788,7 +157781,7 @@ AnnotationAssertion( "2017-09-12T02:06:56Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion(Annotation( ) "Nasal Discharge") -AnnotationAssertion(Annotation( ) "Runny Nose") +AnnotationAssertion(Annotation( ) "Runny Nose") AnnotationAssertion(rdfs:label "Rhinorrhea") SubClassOf( ) @@ -157948,7 +157941,7 @@ SubClassOf( "PMID:32471365") "A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.") AnnotationAssertion(dc:date "2017-09-16T12:21:45Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Unaware of others' emotions") +AnnotationAssertion(Annotation( ) "Unaware of others' emotions") AnnotationAssertion(rdfs:label "Alexithymia") SubClassOf( ) @@ -158404,7 +158397,7 @@ SubClassOf( "PMID:26618117") "A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.") AnnotationAssertion(dc:date "2017-09-18T00:24:29Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Atypical connection between arteries and veins") +AnnotationAssertion(Annotation( ) Annotation( ) "Atypical connection between arteries and veins") AnnotationAssertion(rdfs:label "Arteriovenous malformation of the lip") SubClassOf( ) @@ -159285,7 +159278,7 @@ SubClassOf( "Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.") AnnotationAssertion(dc:date "2017-10-14T13:28:32Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Eye strain") +AnnotationAssertion(Annotation( ) "Eye strain") AnnotationAssertion(rdfs:label "Asthenopia") SubClassOf( ) @@ -159458,7 +159451,7 @@ SubClassOf( ) Annotation( "PMID:29197942") "Shoulder dislocation occurring repeated times.") AnnotationAssertion(dc:date "2017-12-11T10:45:31Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Multiple shoulder dislocation") +AnnotationAssertion(Annotation( ) "Multiple shoulder dislocation") AnnotationAssertion(rdfs:label "Recurrent shoulder dislocation") SubClassOf( ) SubClassOf( ) @@ -159555,7 +159548,7 @@ SubClassOf( "Drooping of the upper eyebrow below the superior orbital rim.") AnnotationAssertion(dc:date "2017-12-16T13:48:49Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Drooping brow") +AnnotationAssertion(Annotation( ) "Drooping brow") AnnotationAssertion(rdfs:comment "Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face.") AnnotationAssertion(rdfs:label "Brow ptosis") SubClassOf( ) @@ -159610,7 +159603,7 @@ SubClassOf( "Reduced ability to walk in a straight line while placing the feet heel to toe.") AnnotationAssertion(dc:date "2017-12-17T00:38:29Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Clumsy tandem walking") +AnnotationAssertion(Annotation( ) "Clumsy tandem walking") AnnotationAssertion(rdfs:label "Impaired tandem gait") SubClassOf( ) @@ -161135,7 +161128,7 @@ AnnotationAssertion(Annotation( "2018-04-28T14:18:49Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Archibald's metacarpal sign") -AnnotationAssertion(Annotation( ) "Knuckle dimple") +AnnotationAssertion(Annotation( ) "Knuckle dimple") AnnotationAssertion(rdfs:comment "In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding).") AnnotationAssertion(rdfs:label "Archibald's sign") SubClassOf( ) @@ -161446,10 +161439,10 @@ SubClassOf( "PMID:25850732") "Abnormal slowness of thought processes.") AnnotationAssertion(dc:date "2018-05-05T15:04:12Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Mental slowness") -AnnotationAssertion(Annotation( ) "Slowed thinking") +AnnotationAssertion(Annotation( ) "Mental slowness") +AnnotationAssertion(Annotation( ) "Slowed thinking") AnnotationAssertion( "Slowed thoughts") -AnnotationAssertion(Annotation( ) "Slowness of thought") +AnnotationAssertion(Annotation( ) "Slowness of thought") AnnotationAssertion(rdfs:label "Bradyphrenia") SubClassOf( ) @@ -162070,7 +162063,7 @@ SubClassOf( "PMID:29491286") "Pain of the gastrocnemius muscle.") AnnotationAssertion(dc:date "2018-07-04T11:57:08Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Calf muscle pain") +AnnotationAssertion(Annotation( ) "Calf muscle pain") AnnotationAssertion( "Calf myalgia") AnnotationAssertion(rdfs:comment "The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestion of Crohn disease.") AnnotationAssertion(rdfs:label "Gastrocnemius myalgia") @@ -162310,7 +162303,7 @@ SubClassOf( "An unintentional, oscillating to-and-fro muscle movement affecting the tongue.") AnnotationAssertion(dc:date "2018-07-06T12:11:14Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Jerky movements of the tongue") +AnnotationAssertion(Annotation( ) "Jerky movements of the tongue") AnnotationAssertion(rdfs:label "Tongue tremor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -162655,7 +162648,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Concentration problems") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Lack of concentration") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Poor concentration") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Poor concentration") AnnotationAssertion(rdfs:label "Diminished ability to concentrate") SubClassOf( ) @@ -163127,7 +163120,7 @@ SubClassOf( "Pain experienced with swallowing.") AnnotationAssertion(dc:date "2018-09-16T10:35:02Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Painful swallowing") +AnnotationAssertion(Annotation( ) "Painful swallowing") AnnotationAssertion(rdfs:label "Odynophagia") SubClassOf( ) @@ -163648,7 +163641,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Scleral icterus") AnnotationAssertion( "Yellow conjunctiva") AnnotationAssertion( "Yellow sclera") -AnnotationAssertion(Annotation( ) "Yellowing of the whites of the eyes") +AnnotationAssertion(Annotation( ) "Yellowing of the whites of the eyes") AnnotationAssertion(rdfs:label "Conjunctival icterus") SubClassOf( ) @@ -164051,7 +164044,7 @@ AnnotationAssertion(dc:date "2018-12 AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "HP:0040180") AnnotationAssertion( "Carpet tack sign") -AnnotationAssertion(Annotation( ) "Chicken skin") +AnnotationAssertion(Annotation( ) "Chicken skin") AnnotationAssertion( "Follicular keratosis") AnnotationAssertion( "Follicular keratotic plug") AnnotationAssertion( "Follicular plugging") @@ -164075,7 +164068,7 @@ SubClassOf( "PMID:25346356") "Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.") AnnotationAssertion(dc:date "2018-12-02T14:06:55Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Canker sore") +AnnotationAssertion(Annotation( ) "Canker sore") AnnotationAssertion(rdfs:label "Aphthous ulcer") SubClassOf( ) @@ -166009,7 +166002,7 @@ SubClassOf( "PMID:21442060") "The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.") AnnotationAssertion(dc:date "2019-02-24T14:52:07Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Sun allergy") +AnnotationAssertion(Annotation( ) "Sun allergy") AnnotationAssertion(rdfs:label "Polymorphous light eruption") SubClassOf( ) @@ -167502,8 +167495,8 @@ SubClassOf( "PMID:21766771") "Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.") AnnotationAssertion(dc:date "2019-06-14T10:37:17Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Haemorrhoids") -AnnotationAssertion(Annotation( ) "Piles") +AnnotationAssertion(Annotation( ) "Haemorrhoids") +AnnotationAssertion(Annotation( ) "Piles") AnnotationAssertion(rdfs:comment "Hemorrrhoids result from dilation of the submucosal vascular tissue in the distal anal canal. This vascular tissue is supported by connective tissue that, when weakened, leads to descent or prolapse of the hemorrhoids. Internal hemorrhoids originate above the dentate line (i.e., the junction between columnar and squamous epithelium) and are viscerally innervated and, therefore, painless. External hemorrhoids originate below the dentate line, have somatic innervation, and can cause pain. Some patients have both internal and external (mixed) hemorrhoids.") AnnotationAssertion(rdfs:label "Hemorrhoids") SubClassOf( ) @@ -167545,7 +167538,7 @@ SubClassOf( "PMID:2797223") "Persistent blue color of the skin that surrounds the mouth.") AnnotationAssertion(dc:date "2019-06-14T10:53:39Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Bluish around mouth") +AnnotationAssertion(Annotation( ) "Bluish around mouth") AnnotationAssertion(rdfs:comment "Circumoral cyanosis may be a sign of peripheral or of central cyanosis.") AnnotationAssertion(rdfs:label "Circumoral cyanosis") SubClassOf( ) @@ -167591,7 +167584,7 @@ SubClassOf( "Decreased size of the head of sperm.") AnnotationAssertion(dc:date "2019-06-15T00:25:50Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Small-head sperm") +AnnotationAssertion(Annotation( ) "Small-head sperm") AnnotationAssertion(rdfs:label "Microcephalic sperm head") SubClassOf( ) @@ -168499,7 +168492,7 @@ SubClassOf( "PMID:10471461") "A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Skin wound") +AnnotationAssertion(Annotation( ) "Skin wound") AnnotationAssertion(rdfs:label "Cutaneous wound") SubClassOf( ) @@ -171533,9 +171526,9 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Pharyngodynia") -AnnotationAssertion(Annotation( ) "Sore throat") -AnnotationAssertion(Annotation( ) "Throat discomfort") -AnnotationAssertion(Annotation( ) "Throat pain") +AnnotationAssertion(Annotation( ) "Sore throat") +AnnotationAssertion(Annotation( ) "Throat discomfort") +AnnotationAssertion(Annotation( ) "Throat pain") AnnotationAssertion(rdfs:label "Pharyngalgia") SubClassOf( ) SubClassOf( ) @@ -171573,7 +171566,7 @@ SubClassOf( ) Annotation( "NCIT:C121469") Annotation( "PMID:26039846") "Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Ineffective planning") +AnnotationAssertion(Annotation( ) "Ineffective planning") AnnotationAssertion(rdfs:label "Impaired ability to plan") SubClassOf( ) @@ -176363,7 +176356,7 @@ SubClassOf( ) Annotation( "PMID:26977460") "Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.") AnnotationAssertion(dc:date "2021-01-30T22:05:25Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Spot on the lung") +AnnotationAssertion(Annotation( ) "Spot on the lung") AnnotationAssertion(rdfs:label "Pulmonary nodule") SubClassOf( ) @@ -176737,7 +176730,7 @@ SubClassOf( "PMID:18195376") "A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.") AnnotationAssertion(dc:date "2021-02-24T12:56:44Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Lung fungus ball") +AnnotationAssertion(Annotation( ) "Lung fungus ball") AnnotationAssertion(rdfs:comment "See Figure 40 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722.") AnnotationAssertion(rdfs:label "Pulmonary mycetoma") SubClassOf( ) @@ -176829,7 +176822,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "Tingling (often refered to as a pins and needles feeling) and numbness in the hand.") AnnotationAssertion(dc:date "2021-02-27T14:33:17Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Hand tingling") +AnnotationAssertion(Annotation( ) "Hand tingling") AnnotationAssertion(rdfs:label "Hand paresthesia") SubClassOf( ) @@ -177285,7 +177278,7 @@ SubClassOf( "PMID:16983448") Annotation( "PMID:21121836") "An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).") AnnotationAssertion(dc:date "2021-03-31T12:40:14Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Increased phlegm") +AnnotationAssertion(Annotation( ) "Increased phlegm") AnnotationAssertion(rdfs:comment "If excessive sputum production is manifested by frequent and often involuntary coughing, the HPO term Productive cough should be used.") AnnotationAssertion(rdfs:label "Increased sputum production") SubClassOf( ) @@ -177298,7 +177291,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Breathlessness at rest") AnnotationAssertion( "Dyspnea at rest") AnnotationAssertion(Annotation( ) "Dyspnoea at rest") -AnnotationAssertion(Annotation( ) "Shortness of breath at rest") +AnnotationAssertion(Annotation( ) "Shortness of breath at rest") AnnotationAssertion(rdfs:label "Rest dyspnea") SubClassOf( ) @@ -177625,7 +177618,7 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.") AnnotationAssertion(dc:date "2021-04-19T22:53:57Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Pain between shoulder blades") +AnnotationAssertion(Annotation( ) "Pain between shoulder blades") AnnotationAssertion(rdfs:label "Intrascapular pain") SubClassOf( ) @@ -177643,7 +177636,7 @@ AnnotationAssertion( "2021-04-21T11:10:28Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion(Annotation( ) "Hypoaesthesia") -AnnotationAssertion(Annotation( ) "Numbness") +AnnotationAssertion(Annotation( ) "Numbness") AnnotationAssertion(rdfs:comment "In hte literature, hypoesthesia is not used specifically to denote loss of tactile sensation, but can be used to refer to losses of all types of sensation. Here, we use the term to refer to exteroceptive sensation.") AnnotationAssertion(rdfs:label "Hypoesthesia") SubClassOf( ) @@ -178456,7 +178449,7 @@ SubClassOf( "PMID:29862322") Annotation( "PMID:29988128") "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.") AnnotationAssertion(dc:date "2021-05-30T16:32:42Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Itchy eyes") +AnnotationAssertion(Annotation( ) "Itchy eyes") AnnotationAssertion( "Ocular itch") AnnotationAssertion(rdfs:label "Ocular pruritus") SubClassOf( ) @@ -178466,8 +178459,8 @@ SubClassOf( "PMID:21369493") Annotation( "PMID:27781342") "The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.") AnnotationAssertion(dc:date "2021-05-30T20:36:13Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Feeling full quickly when eating") -AnnotationAssertion(Annotation( ) "Not able to finish a normal-sized meal") +AnnotationAssertion(Annotation( ) "Feeling full quickly when eating") +AnnotationAssertion(Annotation( ) "Not able to finish a normal-sized meal") AnnotationAssertion(rdfs:label "Early satiety") SubClassOf( ) @@ -178484,7 +178477,7 @@ SubClassOf( "The sensation that thoughts are moving too quickly.") AnnotationAssertion(dc:date "2021-05-30T21:10:50Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Racing thoughts") +AnnotationAssertion(Annotation( ) "Racing thoughts") AnnotationAssertion(rdfs:label "Tachyphrenia") SubClassOf( ) @@ -178510,7 +178503,7 @@ SubClassOf( "A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.") AnnotationAssertion(dc:date "2021-06-01T16:48:29Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Phantom taste") +AnnotationAssertion(Annotation( ) "Phantom taste") AnnotationAssertion(rdfs:comment "In contrast to parageusia, phantageusia is not triggered by an environmental stimulus.") AnnotationAssertion(rdfs:label "Phantageusia") SubClassOf( ) @@ -178520,7 +178513,7 @@ SubClassOf( "PMID:28722980") "A type of aphasia that is characterized by impaired language comprehension.") AnnotationAssertion(dc:date "2021-06-01T16:53:29Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Fluent aphasia") +AnnotationAssertion(Annotation( ) "Fluent aphasia") AnnotationAssertion( "Wernicke aphasia") AnnotationAssertion(rdfs:label "Receptive aphasia") SubClassOf( ) @@ -180114,7 +180107,7 @@ SubClassOf( ) "Bluish discoloration of the lips.") AnnotationAssertion(dc:date "2021-09-24T13:02:41Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Bluish lips") +AnnotationAssertion(Annotation( ) "Bluish lips") AnnotationAssertion( "Cyanotic lips") AnnotationAssertion( "Labial cyanosis") AnnotationAssertion(rdfs:label "Lip cyanosis") @@ -180125,7 +180118,7 @@ SubClassOf( ) "Bluish discoloration of one or more regions of the face.") AnnotationAssertion(dc:date "2021-09-24T13:04:45Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Bluish face") +AnnotationAssertion(Annotation( ) "Bluish face") AnnotationAssertion( "Cyanotic face") AnnotationAssertion(rdfs:label "Facial cyanosis") SubClassOf( ) @@ -180169,7 +180162,7 @@ SubClassOf( ) Annotation( "PMID:33972057") "Inflammatory chilblain-like nodules on the feet and/or toes.") AnnotationAssertion(dc:date "2021-09-24T13:48:17Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "COVID toe") +AnnotationAssertion(Annotation( ) "COVID toe") AnnotationAssertion( "Chilblain-like toe lesions") AnnotationAssertion( "Chilblain-like toes") AnnotationAssertion(rdfs:label "Pseudo-chilblains on toes") @@ -180180,8 +180173,8 @@ SubClassOf( ) Annotation( "PMID:33972057") "Inflammatory chilblain-like nodules on the hands and/or fingers.") AnnotationAssertion(dc:date "2021-09-24T13:50:37Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "COVID finger") -AnnotationAssertion(Annotation( ) Annotation( ) "COVID fingers") +AnnotationAssertion(Annotation( ) "COVID finger") +AnnotationAssertion(Annotation( ) Annotation( ) "COVID fingers") AnnotationAssertion(rdfs:label "Pseudo-chilblains on fingers") SubClassOf( ) @@ -181952,7 +181945,7 @@ SubClassOf( "Death of a fetus in the uterus.") AnnotationAssertion(dc:date "2022-04-10T17:51:32Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Death before birth") +AnnotationAssertion(Annotation( ) "Death before birth") AnnotationAssertion( "Intrauterine death") AnnotationAssertion(rdfs:label "Prenatal death") SubClassOf( ) @@ -182162,8 +182155,8 @@ SubClassOf( "PMID:16533457") "Pain in the breast.") AnnotationAssertion(dc:date "2022-05-21T15:55:15Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Breast pain") -AnnotationAssertion(Annotation( ) "Painful breast") +AnnotationAssertion(Annotation( ) "Breast pain") +AnnotationAssertion(Annotation( ) "Painful breast") AnnotationAssertion(rdfs:label "Mastalgia") SubClassOf( ) @@ -183022,7 +183015,7 @@ SubClassOf( "PMID:34104871") "Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.") AnnotationAssertion(dc:date "2022-09-04T21:55:08Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Surfer's eye") +AnnotationAssertion(Annotation( ) "Surfer's eye") AnnotationAssertion( "Wing-shaped conjunctiva") AnnotationAssertion(rdfs:comment "In ophthalmological contexts, the word 'pterygium' is frequently used without further qualifiers to denote corneal pterygium.") AnnotationAssertion(rdfs:label "Corneal pterygium") @@ -186901,8 +186894,8 @@ AnnotationAssertion(Annotation( "2023-07-01T10:11:21Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Bloody epiphora") -AnnotationAssertion(Annotation( ) "Bloody tears") -AnnotationAssertion(Annotation( ) "Red tears") +AnnotationAssertion(Annotation( ) "Bloody tears") +AnnotationAssertion(Annotation( ) "Red tears") AnnotationAssertion(rdfs:label "Hemolacria") SubClassOf( ) @@ -188887,7 +188880,7 @@ SubClassOf( ) "Lack of skin pigmentation (coloring) of the chest.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4022498") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of skin coloring on chest") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of skin coloring on chest") AnnotationAssertion(Annotation( ) "Lack of skin colouring on chest") AnnotationAssertion(rdfs:label "Absent pigmentation of chest") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -188896,16 +188889,16 @@ SubClassOf( (Aplasia of facial bones) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of facial skeleton") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of facial skeleton") AnnotationAssertion( "UMLS:C1385254") AnnotationAssertion( "UMLS:C4022497") AnnotationAssertion( "UMLS:C4280300") AnnotationAssertion( "UMLS:C4280301") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of facial bones") AnnotationAssertion(Annotation( ) "Agenesis of facial bones") AnnotationAssertion(Annotation( ) "Aplasia of facial skeleton") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of facial bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of facial bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing facial bones") AnnotationAssertion(rdfs:label "Aplasia of facial bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -188979,7 +188972,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022490") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent tailbone") AnnotationAssertion(rdfs:label "Prominent coccyx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -188988,7 +188981,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022489") -AnnotationAssertion(Annotation( ) Annotation( ) "Protruding tailbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Protruding tailbone") AnnotationAssertion(rdfs:label "Protruding coccyx") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -188996,7 +188989,7 @@ SubClassOf( (Clinodactyly of hallux) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of big toe") AnnotationAssertion( "UMLS:C4022488") AnnotationAssertion( "UMLS:C4280299") AnnotationAssertion(rdfs:label "Clinodactyly of hallux") @@ -189007,7 +189000,7 @@ SubClassOf( (Finger clinodactyly) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of finger") AnnotationAssertion( "SNOMEDCT_US:17268007") AnnotationAssertion( "UMLS:C0265610") AnnotationAssertion( "UMLS:C4280298") @@ -189034,7 +189027,7 @@ AnnotationAssertion(owl:deprecated " # Class: (Clinodactyly of the 2nd finger) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of index finger") AnnotationAssertion( "UMLS:C4022486") AnnotationAssertion( "Second finger clinodactyly") AnnotationAssertion(rdfs:label "Clinodactyly of the 2nd finger") @@ -189045,7 +189038,7 @@ SubClassOf( (Clinodactyly of the thumb) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of thumb") AnnotationAssertion( "UMLS:C1856888") AnnotationAssertion( "UMLS:C4280297") AnnotationAssertion(rdfs:label "Clinodactyly of the thumb") @@ -189056,7 +189049,7 @@ SubClassOf( (Clinodactyly of the 3rd finger) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of middle finger") AnnotationAssertion( "UMLS:C4022485") AnnotationAssertion( "UMLS:C4280296") AnnotationAssertion(rdfs:label "Clinodactyly of the 3rd finger") @@ -189067,7 +189060,7 @@ SubClassOf( (Clinodactyly of the 4th finger) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Curvature of ring finger") AnnotationAssertion( "UMLS:C4022484") AnnotationAssertion( "UMLS:C4280295") AnnotationAssertion(rdfs:label "Clinodactyly of the 4th finger") @@ -189094,11 +189087,11 @@ SubClassOf( (Hypoplasia of the upper eyelids) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Small upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Small upper eyelid") AnnotationAssertion( "UMLS:C4022481") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of upper eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of upper eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Short upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of upper eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Short upper eyelid") AnnotationAssertion(Annotation( ) "Hypotrophic upper eyelid") AnnotationAssertion(rdfs:label "Hypoplasia of the upper eyelids") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -189108,8 +189101,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022480") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 5th long bone of foot") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 5th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small 5th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped 5th long bone of foot") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the fifth metatarsal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189119,7 +189112,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022479") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 2nd long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 2nd long bone of foot") AnnotationAssertion(rdfs:label "Abnormality of the second metatarsal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189128,7 +189121,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022478") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 4th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the 4th long bone of foot") AnnotationAssertion(rdfs:label "Abnormality of the fourth metatarsal bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189138,7 +189131,7 @@ SubClassOf( "Thickened fingernails.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4022477") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth and curving of fingernail") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth and curving of fingernail") AnnotationAssertion(rdfs:label "Onychogryposis of fingernail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189161,7 +189154,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C3553044") -AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of fingernails") +AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of fingernails") AnnotationAssertion( "Onycholysis of fingernail") AnnotationAssertion(rdfs:label "Onycholysis of fingernails") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -189173,7 +189166,7 @@ SubClassOf( "Painless and spontaneous separation of a toenail from the nail bed.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4022476") -AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of toenails") +AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of toenails") AnnotationAssertion( "Onycholysis of toenails") AnnotationAssertion(rdfs:label "Toenail onycholysis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -189194,7 +189187,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022474") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped major sweat glands") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped major sweat glands") AnnotationAssertion(rdfs:label "Hypoplasia of the eccrine sweat glands") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189204,7 +189197,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022473") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped diaphragm") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped diaphragm") AnnotationAssertion(rdfs:label "Hypoplasia of the diaphragm") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189258,8 +189251,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022468") AnnotationAssertion(Annotation( ) "Hypotrichosis of upper eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial absence of upper eyelashes") -AnnotationAssertion(Annotation( ) "Sparse upper eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial absence of upper eyelashes") +AnnotationAssertion(Annotation( ) "Sparse upper eyelashes") AnnotationAssertion(rdfs:label "Sparse upper eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189269,7 +189262,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022467") -AnnotationAssertion(Annotation( ) "Abnormality of upper eyelashes") +AnnotationAssertion(Annotation( ) "Abnormality of upper eyelashes") AnnotationAssertion(rdfs:label "Abnormality of upper eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189278,7 +189271,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022466") -AnnotationAssertion(Annotation( ) "Abnormality of lower eyelashes") +AnnotationAssertion(Annotation( ) "Abnormality of lower eyelashes") AnnotationAssertion(rdfs:label "Abnormality of lower eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189288,8 +189281,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022465") AnnotationAssertion( "Ciliary trichomegaly of lower eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of lower eyelashes") -AnnotationAssertion(Annotation( ) "Long lower eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased length of lower eyelashes") +AnnotationAssertion(Annotation( ) "Long lower eyelashes") AnnotationAssertion(rdfs:label "Long lower eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189299,8 +189292,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022464") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of upper eyelashes") -AnnotationAssertion(Annotation( ) "Short upper eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of upper eyelashes") +AnnotationAssertion(Annotation( ) "Short upper eyelashes") AnnotationAssertion(rdfs:label "Short upper eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189310,8 +189303,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022463") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of lower eyelashes") -AnnotationAssertion(Annotation( ) "Short lower eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased length of lower eyelashes") +AnnotationAssertion(Annotation( ) "Short lower eyelashes") AnnotationAssertion(rdfs:label "Short lower eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189323,9 +189316,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "UMLS:C4022462") AnnotationAssertion( "UMLS:C4280255") AnnotationAssertion( "UMLS:C4280294") -AnnotationAssertion(Annotation( ) "Absent upper eyelashes") +AnnotationAssertion(Annotation( ) "Absent upper eyelashes") AnnotationAssertion( "Atrichia of upper eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of upper eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of upper eyelashes") AnnotationAssertion(Annotation( ) "Agenesis of upper eyelashes") AnnotationAssertion(Annotation( ) "Aplasia of upper eyelashes") AnnotationAssertion(rdfs:label "Absent upper eyelashes") @@ -189336,8 +189329,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4021858") -AnnotationAssertion(Annotation( ) "Abnormality of nasal hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of nose hair") +AnnotationAssertion(Annotation( ) "Abnormality of nasal hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of nose hair") AnnotationAssertion(rdfs:label "Abnormality of nasal hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189374,7 +189367,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022459") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased fat tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased fat tissue") AnnotationAssertion(rdfs:label "Decreased adipose tissue") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189385,8 +189378,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "SNOMEDCT_US:445144002") AnnotationAssertion( "UMLS:C0239337") AnnotationAssertion( "UMLS:C4073131") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal limbs") -AnnotationAssertion(Annotation( ) "Abnormality of limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal limbs") +AnnotationAssertion(Annotation( ) "Abnormality of limbs") AnnotationAssertion(Annotation( ) "Limb anomaly") AnnotationAssertion(Annotation( ) "Dysmelia") AnnotationAssertion(rdfs:label "Abnormality of limbs") @@ -189409,7 +189402,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4022456") -AnnotationAssertion(Annotation( ) "Abnormality of limb bone") +AnnotationAssertion(Annotation( ) "Abnormality of limb bone") AnnotationAssertion(rdfs:label "Abnormality of limb bone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189422,8 +189415,8 @@ AnnotationAssertion( "UMLS:C4022455") AnnotationAssertion( "UMLS:C4022457") AnnotationAssertion( "Abnormal morphology of bones of the lower limbs") -AnnotationAssertion(Annotation( ) "Abnormal shape of bones of the lower limbs") -AnnotationAssertion(Annotation( ) "Abnormality of lower limb bone") +AnnotationAssertion(Annotation( ) "Abnormal shape of bones of the lower limbs") +AnnotationAssertion(Annotation( ) "Abnormality of lower limb bone") AnnotationAssertion(rdfs:label "Abnormal lower limb bone morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189435,8 +189428,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "UMLS:C4022454") AnnotationAssertion( "UMLS:C4022458") AnnotationAssertion( "Abnormal morphology of bones of the upper limbs") -AnnotationAssertion(Annotation( ) "Abnormal shape of bones of the upper limbs") -AnnotationAssertion(Annotation( ) "Abnormality of upper limb bone") +AnnotationAssertion(Annotation( ) "Abnormal shape of bones of the upper limbs") +AnnotationAssertion(Annotation( ) "Abnormality of upper limb bone") AnnotationAssertion(rdfs:label "Abnormal upper limb bone morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189458,7 +189451,7 @@ SubClassOf( ) AnnotationAssertion( "HP:0040073") AnnotationAssertion( "UMLS:C4022452") -AnnotationAssertion(Annotation( ) "Abnormality of forearm bone") +AnnotationAssertion(Annotation( ) "Abnormality of forearm bone") AnnotationAssertion(rdfs:label "Abnormal forearm bone morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189498,7 +189491,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C1856765") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular teeth") AnnotationAssertion(rdfs:label "Irregular dentition") SubClassOf( ) @@ -189517,7 +189510,7 @@ AnnotationAssertion( ) Annotation( ) "Abnormal circulating CK concentration") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal circulating CPK concentration") AnnotationAssertion( "Abnormal circulation phospho-CK concentration") -AnnotationAssertion(Annotation( ) "Abnormal levels of creatine kinase in blood") +AnnotationAssertion(Annotation( ) "Abnormal levels of creatine kinase in blood") AnnotationAssertion(rdfs:label "Abnormal circulating creatine kinase concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189527,7 +189520,7 @@ SubClassOf( "PMID:18830393") "A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C1856115") -AnnotationAssertion(Annotation( ) "Happy demeanor") +AnnotationAssertion(Annotation( ) "Happy demeanor") AnnotationAssertion(Annotation( ) "Happy demeanour") AnnotationAssertion(rdfs:label "Happy demeanor") SubClassOf( ) @@ -189544,8 +189537,8 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "PMID:12949225") "A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4021038") -AnnotationAssertion(Annotation( ) "Abnormal circulating renin") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal plasma renin") +AnnotationAssertion(Annotation( ) "Abnormal circulating renin") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal plasma renin") AnnotationAssertion(rdfs:label "Abnormal circulating renin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189554,8 +189547,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C0857898") -AnnotationAssertion(Annotation( ) "Abnormal circulating aldosterone") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal plasma aldosterone") +AnnotationAssertion(Annotation( ) "Abnormal circulating aldosterone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal plasma aldosterone") AnnotationAssertion(rdfs:label "Abnormal circulating aldosterone") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189564,7 +189557,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022448") -AnnotationAssertion(Annotation( ) "Abnormal prolactin level") +AnnotationAssertion(Annotation( ) "Abnormal prolactin level") AnnotationAssertion(rdfs:label "Abnormal prolactin level") SubClassOf( ) @@ -189586,11 +189579,11 @@ AnnotationAssertion( ) AnnotationAssertion( "SNOMEDCT_US:165534000") AnnotationAssertion( "UMLS:C0580550") -AnnotationAssertion(Annotation( ) "Abnormal lymphocyte count") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal lymphocyte counts") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal number of lymphocytes") -AnnotationAssertion(Annotation( ) "Abnormal numbers of lymphocytes") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of lymphocyte number") +AnnotationAssertion(Annotation( ) "Abnormal lymphocyte count") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal lymphocyte counts") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal number of lymphocytes") +AnnotationAssertion(Annotation( ) "Abnormal numbers of lymphocytes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of lymphocyte number") AnnotationAssertion(rdfs:label "Abnormal lymphocyte count") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -189614,7 +189607,7 @@ SubClassOf( "An abnormality of the tympanic membrane") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4022447") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the eardrum") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the eardrum") AnnotationAssertion(rdfs:comment "The tympanic membrane is considered to be the border of middle and outer ear.") AnnotationAssertion(rdfs:label "Abnormality of the tympanic membrane") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -189625,7 +189618,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022446") -AnnotationAssertion(Annotation( ) "Asymmetry of the size of ears") +AnnotationAssertion(Annotation( ) "Asymmetry of the size of ears") AnnotationAssertion(rdfs:label "Asymmetry of the size of ears") SubClassOf( ) @@ -189633,14 +189626,14 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022445") -AnnotationAssertion(Annotation( ) "Asymmetry of the shape of the ears") +AnnotationAssertion(Annotation( ) "Asymmetry of the shape of the ears") AnnotationAssertion(rdfs:label "Asymmetry of the shape of the ears") SubClassOf( ) # Class: (Asymmetry of the position of the ears) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven ears") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven ears") AnnotationAssertion( "UMLS:C4022444") AnnotationAssertion(rdfs:label "Asymmetry of the position of the ears") SubClassOf( ) @@ -189651,7 +189644,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "UMLS:C4022443") -AnnotationAssertion(Annotation( ) Annotation( ) "Outer ear tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Outer ear tumor") AnnotationAssertion(Annotation( ) "Outer ear tumour") AnnotationAssertion(rdfs:label "Neoplasm of the outer ear") SubClassOf( ) @@ -189663,7 +189656,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "UMLS:C1512779") -AnnotationAssertion(Annotation( ) Annotation( ) "Inner ear tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Inner ear tumor") AnnotationAssertion(Annotation( ) "Inner ear tumour") AnnotationAssertion(rdfs:label "Neoplasm of the inner ear") SubClassOf( ) @@ -189947,7 +189940,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "UMLS:C0853228") AnnotationAssertion( "Abnormal plasma ferritin") -AnnotationAssertion(Annotation( ) "Abnormal serum ferritin") +AnnotationAssertion(Annotation( ) "Abnormal serum ferritin") AnnotationAssertion(rdfs:comment "Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation.") AnnotationAssertion(rdfs:label "Abnormal circulating ferritin concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -189957,7 +189950,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022420") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal liver iron concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal liver iron concentration") AnnotationAssertion(Annotation( ) "Abnormal liver iron level") AnnotationAssertion(rdfs:label "Abnormal hepatic iron concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -190090,14 +190083,14 @@ SubClassOf( "PMID:20464096") "The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Nappy scalp hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Nappy scalp hair texture") AnnotationAssertion( "UMLS:C4015203") AnnotationAssertion( "UMLS:C4280291") AnnotationAssertion( "UMLS:C4280292") AnnotationAssertion( "UMLS:C4280293") AnnotationAssertion( "Wooly scalp hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Afro-textured scalp hair") -AnnotationAssertion(Annotation( ) Annotation( ) "Kinky scalp hair texture") +AnnotationAssertion(Annotation( ) Annotation( ) "Afro-textured scalp hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Kinky scalp hair texture") AnnotationAssertion(rdfs:label "Woolly scalp hair") SubClassOf( ) @@ -190170,9 +190163,9 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022410") -AnnotationAssertion(Annotation( ) "Abnormal spaced incisors") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of spacing of front teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of spacing of incisors") +AnnotationAssertion(Annotation( ) "Abnormal spaced incisors") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of spacing of front teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of spacing of incisors") AnnotationAssertion(rdfs:label "Abnormal spaced incisors") SubClassOf( ) @@ -190207,7 +190200,7 @@ SubClassOf( (Abnormal pelvis bone morphology) AnnotationAssertion( "UMLS:C4073132") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of pelvis bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of pelvis bone") AnnotationAssertion(rdfs:label "Abnormal pelvis bone morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -190216,7 +190209,7 @@ SubClassOf( ) "Fatty tumors on the eyelids.") AnnotationAssertion( "UMLS:C4073133") -AnnotationAssertion(Annotation( ) Annotation( ) "Fatty tumors on the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Fatty tumors on the eyelids") AnnotationAssertion(Annotation( ) "Fatty tumours on the eyelids") AnnotationAssertion(rdfs:comment "Eyelid lipomas") AnnotationAssertion(rdfs:label "Lipomas of eyelids") @@ -190245,7 +190238,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "SNOMEDCT_US:240533004") AnnotationAssertion( "UMLS:C0343643") AnnotationAssertion(Annotation( ) "Facial verruca") -AnnotationAssertion(Annotation( ) Annotation( ) "Facial wart") +AnnotationAssertion(Annotation( ) Annotation( ) "Facial wart") AnnotationAssertion(rdfs:comment "A very specific feature of Costello Syndrome") AnnotationAssertion(rdfs:label "Facial papilloma") SubClassOf( ) @@ -190273,14 +190266,14 @@ SubClassOf( ) AnnotationAssertion( "HP:0008230") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased testosterone") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased testosterone") AnnotationAssertion( "SNOMEDCT_US:131078003") AnnotationAssertion( "UMLS:C1295654") AnnotationAssertion( "UMLS:C4073137") -AnnotationAssertion(Annotation( ) "Decreased serum testosterone level") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased serum testosterone levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Low serum testosterone level") -AnnotationAssertion(Annotation( ) Annotation( ) "Low serum testosterone levels") +AnnotationAssertion(Annotation( ) "Decreased serum testosterone level") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased serum testosterone levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low serum testosterone level") +AnnotationAssertion(Annotation( ) Annotation( ) "Low serum testosterone levels") AnnotationAssertion(rdfs:label "Decreased serum testosterone concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -190299,7 +190292,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4073139") AnnotationAssertion(Annotation( ) "Abnormality of lingual muscle") -AnnotationAssertion(Annotation( ) "Abnormality of the tongue muscle") +AnnotationAssertion(Annotation( ) "Abnormality of the tongue muscle") AnnotationAssertion(rdfs:label "Abnormality of the tongue muscle") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -190373,11 +190366,11 @@ AnnotationAssertion( "SNOMEDCT_US:402294001") AnnotationAssertion( "UMLS:C0263449") AnnotationAssertion( "UMLS:C0424489") -AnnotationAssertion(Annotation( ) "Chapped lip") -AnnotationAssertion(Annotation( ) "Chapped lips") +AnnotationAssertion(Annotation( ) "Chapped lip") +AnnotationAssertion(Annotation( ) "Chapped lips") AnnotationAssertion(Annotation( ) "Cheilitis simplex") AnnotationAssertion(Annotation( ) "Common cheilitis") -AnnotationAssertion(Annotation( ) "Dry lips") +AnnotationAssertion(Annotation( ) "Dry lips") AnnotationAssertion(Annotation( ) "Perioral dermatitis") AnnotationAssertion(rdfs:label "Chapped lip") SubClassOf( ) @@ -190394,8 +190387,8 @@ SubClassOf( "SNOMEDCT_US:302690004") AnnotationAssertion( "UMLS:C2945606") -AnnotationAssertion(Annotation( ) Annotation( ) "Stool holding") -AnnotationAssertion(Annotation( ) Annotation( ) "Stool soiling") +AnnotationAssertion(Annotation( ) Annotation( ) "Stool holding") +AnnotationAssertion(Annotation( ) Annotation( ) "Stool soiling") AnnotationAssertion(rdfs:label "Encopresis") SubClassOf( ) @@ -190404,7 +190397,7 @@ SubClassOf( "MSH:D006472") AnnotationAssertion( "SNOMEDCT_US:22490002") AnnotationAssertion( "UMLS:C0029163") -AnnotationAssertion(Annotation( ) "Oral bleeding") +AnnotationAssertion(Annotation( ) "Oral bleeding") AnnotationAssertion(Annotation( ) "Oral haemorrhage") AnnotationAssertion(Annotation( ) "Oral hemorrhage") AnnotationAssertion(rdfs:label "Oral bleeding") @@ -190456,18 +190449,18 @@ AnnotationAssertion( "SNOMEDCT_US:271767006") AnnotationAssertion( "UMLS:C0237849") AnnotationAssertion( "Desquamation") -AnnotationAssertion(Annotation( ) "Scaling skin") -AnnotationAssertion(Annotation( ) "Scaly skin") -AnnotationAssertion(Annotation( ) "flaking skin") -AnnotationAssertion(Annotation( ) "peeling skin") +AnnotationAssertion(Annotation( ) "Scaling skin") +AnnotationAssertion(Annotation( ) "Scaly skin") +AnnotationAssertion(Annotation( ) "flaking skin") +AnnotationAssertion(Annotation( ) "peeling skin") AnnotationAssertion(rdfs:label "Scaling skin") SubClassOf( ) # Class: (White scaling skin) AnnotationAssertion( "UMLS:C4073146") -AnnotationAssertion(Annotation( ) "White scaling skin") -AnnotationAssertion(Annotation( ) Annotation( ) "White scaly skin") +AnnotationAssertion(Annotation( ) "White scaling skin") +AnnotationAssertion(Annotation( ) Annotation( ) "White scaly skin") AnnotationAssertion(rdfs:label "White scaling skin") SubClassOf( ) @@ -190502,7 +190495,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.") AnnotationAssertion( "UMLS:C4083076") -AnnotationAssertion(Annotation( ) "Increased head circumference") +AnnotationAssertion(Annotation( ) "Increased head circumference") AnnotationAssertion(rdfs:label "Increased head circumference") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -190512,7 +190505,7 @@ SubClassOf( "PMID:26505062") "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.") AnnotationAssertion( "SNOMEDCT_US:271611007") AnnotationAssertion( "UMLS:C0424688") -AnnotationAssertion(Annotation( ) "Decreased head circumference") +AnnotationAssertion(Annotation( ) "Decreased head circumference") AnnotationAssertion(rdfs:comment "Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly.") AnnotationAssertion(rdfs:label "Decreased head circumference") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -190686,7 +190679,7 @@ SubClassOf( "Hypopnea is referring to breathing that is abnormally shallow.") AnnotationAssertion( "SNOMEDCT_US:386614005") AnnotationAssertion( "UMLS:C0235546") -AnnotationAssertion(Annotation( ) "Shallow breathing") +AnnotationAssertion(Annotation( ) "Shallow breathing") AnnotationAssertion(rdfs:comment "Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing.") AnnotationAssertion(rdfs:label "Hypopnea") SubClassOf( ) @@ -191131,7 +191124,7 @@ SubClassOf( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.") AnnotationAssertion( "SNOMEDCT_US:274667000") AnnotationAssertion( "UMLS:C0236000") -AnnotationAssertion(Annotation( ) "Jaw pain") +AnnotationAssertion(Annotation( ) "Jaw pain") AnnotationAssertion(rdfs:label "Jaw pain") SubClassOf( ) @@ -191585,7 +191578,7 @@ AnnotationAssertion( "Erythema of eyelid") AnnotationAssertion(Annotation( ) "Erythema of the eyelids") AnnotationAssertion( "Eyelid erythema") -AnnotationAssertion(Annotation( ) "Red eyelid") +AnnotationAssertion(Annotation( ) "Red eyelid") AnnotationAssertion(rdfs:label "Eyelid erythema") SubClassOf( ) SubClassOf( ) @@ -191732,7 +191725,7 @@ SubClassOf( ) "An inability to digest starch.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Amylose-amylopectin intolerance") -AnnotationAssertion(Annotation( ) "Starch intolerance") +AnnotationAssertion(Annotation( ) "Starch intolerance") AnnotationAssertion(rdfs:label "Starch intolerance") SubClassOf( ) @@ -191752,7 +191745,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "Absent sense of taste") AnnotationAssertion( "Impaired taste sensation") -AnnotationAssertion(Annotation( ) "Lost taste") +AnnotationAssertion(Annotation( ) "Lost taste") AnnotationAssertion(rdfs:label "Ageusia") SubClassOf( ) @@ -193068,7 +193061,7 @@ SubClassOf( ) "Aplasia (absence) of the lymphatic vessels.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "UMLS:C4022404") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent lymphatic vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent lymphatic vessels") AnnotationAssertion(rdfs:label "Aplasia of lymphatic vessels") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193159,8 +193152,8 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4022396") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial double eyebrow") -AnnotationAssertion(Annotation( ) "Partial duplication of eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial double eyebrow") +AnnotationAssertion(Annotation( ) "Partial duplication of eyebrows") AnnotationAssertion(rdfs:label "Partial duplication of eyebrows") SubClassOf( ) @@ -193171,10 +193164,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "UMLS:C1837464") AnnotationAssertion( "UMLS:C2675021") AnnotationAssertion( "Narrow palpebral fissures") -AnnotationAssertion(Annotation( ) Annotation( ) "Small opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Small opening between the eyelids") AnnotationAssertion(Annotation( ) "Small palpebral fissures") AnnotationAssertion(Annotation( ) "Decreased size of palpebral fissure") -AnnotationAssertion(Annotation( ) "Narrow eyelid opening") +AnnotationAssertion(Annotation( ) "Narrow eyelid opening") AnnotationAssertion(rdfs:label "Narrow palpebral fissure") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193233,7 +193226,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4073164") -AnnotationAssertion(Annotation( ) "Decreased urinary copper concentration") +AnnotationAssertion(Annotation( ) "Decreased urinary copper concentration") AnnotationAssertion(rdfs:label "Decreased urinary copper concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193242,7 +193235,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4073165") -AnnotationAssertion(Annotation( ) "Abnormal urinary copper concentration") +AnnotationAssertion(Annotation( ) "Abnormal urinary copper concentration") AnnotationAssertion(rdfs:label "Abnormal urinary copper concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193251,7 +193244,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4073166") -AnnotationAssertion(Annotation( ) "Abnormality of jaw muscles") +AnnotationAssertion(Annotation( ) "Abnormality of jaw muscles") AnnotationAssertion(rdfs:label "Abnormality of jaw muscles") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193428,7 +193421,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "HP:0032461") AnnotationAssertion( "UMLS:C4073178") -AnnotationAssertion(Annotation( ) "Tiger tail banding") +AnnotationAssertion(Annotation( ) "Tiger tail banding") AnnotationAssertion( "Tiger-tail banding") AnnotationAssertion(rdfs:label "Tiger tail banding") SubClassOf( ) @@ -193500,8 +193493,8 @@ SubClassOf( "Decreased diameter of eyebrow hairs.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Thin eyebrow") -AnnotationAssertion(Annotation( ) "Thin eyebrows") +AnnotationAssertion(Annotation( ) "Thin eyebrow") +AnnotationAssertion(Annotation( ) "Thin eyebrows") AnnotationAssertion(rdfs:label "Thin eyebrow") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193515,8 +193508,8 @@ AnnotationAssertion( "HP:0004520") AnnotationAssertion( "HP:0004551") AnnotationAssertion(Annotation( ) "Hypotrichosis of eyebrow") -AnnotationAssertion(Annotation( ) "Sparse eyebrow") -AnnotationAssertion(Annotation( ) "Sparse eyebrows") +AnnotationAssertion(Annotation( ) "Sparse eyebrow") +AnnotationAssertion(Annotation( ) "Sparse eyebrows") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Sparseness can be regional (medial, central, lateral) or total.") AnnotationAssertion(rdfs:label "Sparse eyebrow") @@ -193580,7 +193573,7 @@ SubClassOf( (Knee joint hypermobility) AnnotationAssertion(Annotation( ) Annotation( "PMID:28599980") "The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).") -AnnotationAssertion(Annotation( ) "Knee joint over-flexibility") +AnnotationAssertion(Annotation( ) "Knee joint over-flexibility") AnnotationAssertion(rdfs:label "Knee joint hypermobility") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -193672,7 +193665,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-05-04T10:35:02Z") AnnotationAssertion( "UMLS:C4022392") -AnnotationAssertion(Annotation( ) "Early onset of sexual maturation") +AnnotationAssertion(Annotation( ) "Early onset of sexual maturation") AnnotationAssertion( "HP:0100000") AnnotationAssertion(rdfs:label "Early onset of sexual maturation") SubClassOf( ) @@ -193751,7 +193744,7 @@ AnnotationAssertion( "SNOMEDCT_US:126951006") AnnotationAssertion( "UMLS:C0085136") AnnotationAssertion(Annotation( ) "Neoplasm of the CNS") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumors of the central nervous system") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumors of the central nervous system") AnnotationAssertion(Annotation( ) "Tumours of the central nervous system") AnnotationAssertion( "Neoplasia of the central nervous system") AnnotationAssertion( "HP:0100006") @@ -193768,7 +193761,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126980002") AnnotationAssertion( "UMLS:C0031118") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the peripheral nervous system") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of the peripheral nervous system") AnnotationAssertion(Annotation( ) "Tumour of the peripheral nervous system") AnnotationAssertion( "HP:0100007") AnnotationAssertion(rdfs:label "Neoplasm of the peripheral nervous system") @@ -193839,7 +193832,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:371486001") AnnotationAssertion( "UMLS:C0015414") -AnnotationAssertion(Annotation( ) Annotation( ) "Eye tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Eye tumor") AnnotationAssertion(Annotation( ) "Eye tumour") AnnotationAssertion( "Neoplasia of the eye") AnnotationAssertion( "HP:0100012") @@ -193857,9 +193850,9 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126926005") AnnotationAssertion( "UMLS:C1458155") -AnnotationAssertion(Annotation( ) Annotation( ) "Breast tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Breast tumor") AnnotationAssertion(Annotation( ) "Breast tumour") -AnnotationAssertion(Annotation( ) "Tumours of the breast") +AnnotationAssertion(Annotation( ) "Tumours of the breast") AnnotationAssertion( "Neoplasia of the breast") AnnotationAssertion( "HP:0100013") AnnotationAssertion(rdfs:label "Neoplasm of the breast") @@ -193930,7 +193923,7 @@ AnnotationAssertion( "HP:0008024") AnnotationAssertion( "SNOMEDCT_US:53889007") AnnotationAssertion( "UMLS:C0392557") -AnnotationAssertion(Annotation( ) Annotation( ) "Yellowish cloudy center of lens") +AnnotationAssertion(Annotation( ) Annotation( ) "Yellowish cloudy center of lens") AnnotationAssertion(Annotation( ) "Yellowish cloudy centre of lens") AnnotationAssertion( "HP:0100018") AnnotationAssertion( ) @@ -193984,9 +193977,9 @@ AnnotationAssertion( "MSH:D009069") AnnotationAssertion( "SNOMEDCT_US:60342002") AnnotationAssertion( "UMLS:C0026650") -AnnotationAssertion(Annotation( ) "Abnormality of movement") -AnnotationAssertion(Annotation( ) "Movement disorder") -AnnotationAssertion(Annotation( ) "Unusual movement") +AnnotationAssertion(Annotation( ) "Abnormality of movement") +AnnotationAssertion(Annotation( ) "Movement disorder") +AnnotationAssertion(Annotation( ) "Unusual movement") AnnotationAssertion( "HP:0100022") AnnotationAssertion(rdfs:comment "Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.") AnnotationAssertion(rdfs:label "Abnormality of movement") @@ -194058,7 +194051,7 @@ AnnotationAssertion( "SNOMEDCT_US:234689009") AnnotationAssertion( "SNOMEDCT_US:235494005") AnnotationAssertion( "UMLS:C0149521") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurring pancreas inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurring pancreas inflammation") AnnotationAssertion( "Recurring pancreatitis") AnnotationAssertion( "HP:0100027") AnnotationAssertion(rdfs:label "Recurrent pancreatitis") @@ -194074,7 +194067,7 @@ AnnotationAssertion( "UMLS:C0266283") AnnotationAssertion(Annotation( ) "Aberrant thyroid") AnnotationAssertion(Annotation( ) Annotation( ) "Aberrant thyroid gland") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thryoid location") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal thryoid location") AnnotationAssertion(Annotation( ) Annotation( ) "Ectopic thyroid gland") AnnotationAssertion(Annotation( ) Annotation( ) "Heteropic thyroid gland") AnnotationAssertion( "HP:0100028") @@ -194134,7 +194127,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "2010-06-10T12:10:29Z") AnnotationAssertion( "UMLS:C2169806") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Tic disorder") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Tic disorder") AnnotationAssertion( "HP:0100033") AnnotationAssertion(rdfs:comment "Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics.") AnnotationAssertion(rdfs:label "Tics") @@ -194192,7 +194185,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-22T05:29:31Z") AnnotationAssertion( "UMLS:C4022384") -AnnotationAssertion(Annotation( ) "Abnormality of the scalp hair") +AnnotationAssertion(Annotation( ) "Abnormality of the scalp hair") AnnotationAssertion( "HP:0100037") AnnotationAssertion(rdfs:label "Abnormality of the scalp hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194206,7 +194199,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-22T05:46:59Z") AnnotationAssertion( "HP:0004553") AnnotationAssertion( "UMLS:C4022383") -AnnotationAssertion(Annotation( ) "Slow-growing scalp hair") +AnnotationAssertion(Annotation( ) "Slow-growing scalp hair") AnnotationAssertion( "HP:0100038") AnnotationAssertion(rdfs:label "Slow-growing scalp hair") SubClassOf( ) @@ -194228,7 +194221,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:52:57Z") AnnotationAssertion( "UMLS:C4022381") -AnnotationAssertion(Annotation( ) "Wide 2nd toe") +AnnotationAssertion(Annotation( ) "Wide 2nd toe") AnnotationAssertion( "HP:0100040") AnnotationAssertion(rdfs:comment "Note that an apparent broad appearance might be due to a hidden duplication.") AnnotationAssertion(rdfs:label "Broad 2nd toe") @@ -194242,8 +194235,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:54:55Z") AnnotationAssertion( "UMLS:C4022380") -AnnotationAssertion(Annotation( ) "Broad 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide 3rd toe") +AnnotationAssertion(Annotation( ) "Broad 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide 3rd toe") AnnotationAssertion( "HP:0100041") AnnotationAssertion(rdfs:label "Broad 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -194256,8 +194249,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:55:43Z") AnnotationAssertion( "UMLS:C4022379") -AnnotationAssertion(Annotation( ) "Broad 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide 4th toe") +AnnotationAssertion(Annotation( ) "Broad 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide 4th toe") AnnotationAssertion( "HP:0100042") AnnotationAssertion(rdfs:label "Broad 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -194270,10 +194263,10 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:56:25Z") AnnotationAssertion( "UMLS:C4022378") -AnnotationAssertion(Annotation( ) "Broad 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinky toe") +AnnotationAssertion(Annotation( ) "Broad 5th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad pinky toe") AnnotationAssertion( "HP:0100043") AnnotationAssertion(rdfs:label "Broad 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -194285,7 +194278,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022377") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 2nd toe bone") AnnotationAssertion( "HP:0100044") AnnotationAssertion(rdfs:label "Absent epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194297,7 +194290,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022376") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 2nd toe bone") AnnotationAssertion( "HP:0100045") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194309,7 +194302,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022375") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 2nd toe bone") AnnotationAssertion( "HP:0100046") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194321,7 +194314,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022374") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 2nd toe bone") AnnotationAssertion( "HP:0100047") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194333,7 +194326,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022373") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 2nd toe bone") AnnotationAssertion( "HP:0100048") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194345,7 +194338,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022372") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 2nd toe bone") AnnotationAssertion( "HP:0100049") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194358,7 +194351,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022371") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 2nd toe") AnnotationAssertion( "HP:0100050") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194381,7 +194374,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022369") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 2nd toe bone") AnnotationAssertion( "HP:0100052") AnnotationAssertion(rdfs:label "Small epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194394,7 +194387,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022368") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 2nd toe bone") AnnotationAssertion( "HP:0100053") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194406,7 +194399,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:18Z") AnnotationAssertion( "UMLS:C4022367") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 2nd toe bone") AnnotationAssertion( "HP:0100054") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194418,7 +194411,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022366") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 3rd toe") AnnotationAssertion( "HP:0100055") AnnotationAssertion(rdfs:label "Absent epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194430,7 +194423,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022365") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 3rd toe bone") AnnotationAssertion( "HP:0100056") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194442,7 +194435,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022364") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 3rd toe bone") AnnotationAssertion( "HP:0100057") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194454,7 +194447,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022363") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 3rd toe bone") AnnotationAssertion( "HP:0100058") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194466,7 +194459,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022362") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 3rd toe bone") AnnotationAssertion( "HP:0100059") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194478,7 +194471,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022361") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 3rd toe bone") AnnotationAssertion( "HP:0100060") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194491,7 +194484,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022360") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 3rd toe bone") AnnotationAssertion( "HP:0100061") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194514,7 +194507,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022358") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 3rd toe bone") AnnotationAssertion( "HP:0100063") AnnotationAssertion(rdfs:label "Small epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194527,7 +194520,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022357") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 3rd toe bone") AnnotationAssertion( "HP:0100064") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194539,7 +194532,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:58:55Z") AnnotationAssertion( "UMLS:C4022356") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 3rd toe bone") AnnotationAssertion( "HP:0100065") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194551,7 +194544,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022355") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the 4th toe bone") AnnotationAssertion( "HP:0100066") AnnotationAssertion(rdfs:label "Absent epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194563,7 +194556,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022354") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of 4th toe bone") AnnotationAssertion( "HP:0100067") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194575,7 +194568,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022353") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the 4th toe bone") AnnotationAssertion( "HP:0100068") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194587,7 +194580,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022352") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the 4th toe bone") AnnotationAssertion( "HP:0100069") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194599,7 +194592,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022351") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the 4th toe bone") AnnotationAssertion( "HP:0100070") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194611,7 +194604,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022350") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the 4th toe bone") AnnotationAssertion( "HP:0100071") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194624,7 +194617,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022349") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the 4th toe bone") AnnotationAssertion( "HP:0100072") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194647,7 +194640,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022347") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the 4th toe bone") AnnotationAssertion( "HP:0100074") AnnotationAssertion(rdfs:label "Small epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194660,7 +194653,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022346") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the 4th toe bone") AnnotationAssertion( "HP:0100075") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194672,7 +194665,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T09:59:30Z") AnnotationAssertion( "UMLS:C4022345") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the 4th toe bone") AnnotationAssertion( "HP:0100076") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194684,9 +194677,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022344") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the pinky toe bone") AnnotationAssertion( "HP:0100077") AnnotationAssertion(rdfs:label "Absent epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194698,9 +194691,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022343") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of pinky toe bone") AnnotationAssertion( "HP:0100078") AnnotationAssertion(rdfs:label "Bracket epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194712,9 +194705,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022342") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the pinky toe bone") AnnotationAssertion( "HP:0100079") AnnotationAssertion(rdfs:label "Cone-shaped epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194726,9 +194719,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022341") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the pinky toe bone") AnnotationAssertion( "HP:0100080") AnnotationAssertion(rdfs:label "Enlarged epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194740,9 +194733,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022340") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the pinky toe bone") AnnotationAssertion( "HP:0100081") AnnotationAssertion(rdfs:label "Fragmentation of the epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194754,9 +194747,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022339") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the pinky toe bone") AnnotationAssertion( "HP:0100082") AnnotationAssertion(rdfs:label "Irregular epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194769,9 +194762,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022338") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the pinky toe bone") AnnotationAssertion( "HP:0100083") AnnotationAssertion(rdfs:label "Ivory epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194794,9 +194787,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022336") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the pinky toe bone") AnnotationAssertion( "HP:0100085") AnnotationAssertion(rdfs:label "Small epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194809,9 +194802,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022335") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the pinky toe bone") AnnotationAssertion( "HP:0100086") AnnotationAssertion(rdfs:label "Stippling of the epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194823,9 +194816,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:00:02Z") AnnotationAssertion( "UMLS:C4022334") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the pinky toe bone") AnnotationAssertion( "HP:0100087") AnnotationAssertion(rdfs:label "Triangular epiphyses of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194837,7 +194830,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:01:42Z") AnnotationAssertion( "UMLS:C4022333") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100088") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194848,7 +194841,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:01:42Z") AnnotationAssertion( "UMLS:C4022332") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100089") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194859,7 +194852,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:01:42Z") AnnotationAssertion( "UMLS:C4022331") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100090") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194870,7 +194863,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:07Z") AnnotationAssertion( "UMLS:C4022330") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100091") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194881,7 +194874,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:07Z") AnnotationAssertion( "UMLS:C4022329") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100092") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194892,7 +194885,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:07Z") AnnotationAssertion( "UMLS:C4022328") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100093") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194903,7 +194896,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:24Z") AnnotationAssertion( "UMLS:C4022327") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100094") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194914,7 +194907,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:24Z") AnnotationAssertion( "UMLS:C4022326") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100095") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194925,7 +194918,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:24Z") AnnotationAssertion( "UMLS:C4022325") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100096") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194936,9 +194929,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:41Z") AnnotationAssertion( "UMLS:C4022324") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100097") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194949,9 +194942,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:41Z") AnnotationAssertion( "UMLS:C4022323") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100098") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194962,9 +194955,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:02:41Z") AnnotationAssertion( "UMLS:C4022322") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100099") AnnotationAssertion(rdfs:label "Abnormality of the epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194975,7 +194968,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022321") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100100") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194987,7 +194980,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022320") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100101") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -194999,7 +194992,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022319") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100102") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195011,7 +195004,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022318") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100103") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195023,7 +195016,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022317") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100104") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195035,7 +195028,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022316") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100105") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195047,7 +195040,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022315") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100106") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195070,7 +195063,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022313") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100108") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195083,7 +195076,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022312") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100109") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195095,7 +195088,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:04:20Z") AnnotationAssertion( "UMLS:C4022311") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100110") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195107,7 +195100,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022310") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100111") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195119,7 +195112,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022309") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100112") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195131,7 +195124,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022308") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100113") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195143,7 +195136,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022307") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100114") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195155,7 +195148,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022306") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100115") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195167,7 +195160,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022305") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100116") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195179,7 +195172,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022304") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100117") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195203,7 +195196,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022302") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100119") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195228,7 +195221,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:05:37Z") AnnotationAssertion( "UMLS:C4022300") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100121") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195240,7 +195233,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022299") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100122") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195252,7 +195245,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022298") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100123") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195264,7 +195257,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022297") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100124") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195276,7 +195269,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022296") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100125") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195288,7 +195281,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022295") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100126") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195300,7 +195293,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022294") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100127") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195312,7 +195305,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022293") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100128") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195336,7 +195329,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022291") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100130") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195349,7 +195342,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022290") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100131") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195361,7 +195354,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:06:29Z") AnnotationAssertion( "UMLS:C4022289") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100132") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195374,7 +195367,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:15:30Z") AnnotationAssertion( "UMLS:C4022288") -AnnotationAssertion(Annotation( ) "Abnormality of the pubic hair") +AnnotationAssertion(Annotation( ) "Abnormality of the pubic hair") AnnotationAssertion( "HP:0100133") AnnotationAssertion(rdfs:label "Abnormality of the pubic hair") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -195396,7 +195389,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022286") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100135") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195408,7 +195401,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022285") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100136") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195420,7 +195413,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022284") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100137") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195432,7 +195425,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022283") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100138") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195444,7 +195437,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022282") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100139") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195456,7 +195449,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022281") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100140") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195468,7 +195461,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022280") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100141") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195491,7 +195484,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022278") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100143") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195504,7 +195497,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022277") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100144") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195516,7 +195509,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:23:44Z") AnnotationAssertion( "UMLS:C4022276") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100145") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195528,7 +195521,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022275") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100146") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195540,7 +195533,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022274") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of 3rd toe") AnnotationAssertion( "HP:0100147") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195564,7 +195557,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022272") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100149") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195576,7 +195569,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022271") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100150") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195588,7 +195581,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022270") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100151") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195600,7 +195593,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022269") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100152") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195623,7 +195616,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022267") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100154") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195636,7 +195629,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022266") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100155") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195648,7 +195641,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:13Z") AnnotationAssertion( "UMLS:C4022265") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100156") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195660,7 +195653,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022264") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100157") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195672,7 +195665,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022263") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of 3rd toe") AnnotationAssertion( "HP:0100158") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195684,7 +195677,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022262") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100159") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195696,7 +195689,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022261") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100160") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195708,7 +195701,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022260") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100161") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195720,7 +195713,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022259") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100162") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195732,7 +195725,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022258") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100163") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195756,7 +195749,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022256") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100165") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195769,7 +195762,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022255") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in of the end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in of the end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100166") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195781,7 +195774,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T10:24:45Z") AnnotationAssertion( "UMLS:C4022254") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100167") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195794,7 +195787,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T11:07:51Z") AnnotationAssertion( "UMLS:C4022253") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmented end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmented end part of bone") AnnotationAssertion( "HP:0100168") AnnotationAssertion(rdfs:label "Fragmented epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -195805,7 +195798,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022252") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100169") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195817,7 +195810,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022251") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100170") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195829,7 +195822,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022250") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100171") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195841,7 +195834,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022249") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100172") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195853,7 +195846,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022248") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100173") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195865,7 +195858,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022247") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100174") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195877,7 +195870,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022246") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100175") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195900,7 +195893,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022244") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100177") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195913,7 +195906,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022243") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100178") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195925,7 +195918,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:53:36Z") AnnotationAssertion( "UMLS:C4022242") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100179") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195937,7 +195930,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022241") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100180") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195949,7 +195942,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022240") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100181") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195961,7 +195954,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022239") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100182") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195973,7 +195966,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022238") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100183") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195985,7 +195978,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022237") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100184") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -195997,7 +195990,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022236") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100185") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196009,7 +196002,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022235") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100186") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196033,7 +196026,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022233") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of middle long bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of middle long bone of 4th toe") AnnotationAssertion( "HP:0100188") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196046,7 +196039,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022232") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100189") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196058,7 +196051,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:13Z") AnnotationAssertion( "UMLS:C4022231") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the 4th toe") AnnotationAssertion( "HP:0100190") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196070,7 +196063,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022230") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100191") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196082,7 +196075,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022229") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of 4th toe") AnnotationAssertion( "HP:0100192") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196094,7 +196087,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022228") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100193") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196106,7 +196099,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022227") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100194") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196118,7 +196111,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022226") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100195") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196130,7 +196123,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022225") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100196") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196142,7 +196135,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022224") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100197") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196166,7 +196159,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022222") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100199") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196179,7 +196172,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022221") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100200") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196191,7 +196184,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T04:54:59Z") AnnotationAssertion( "UMLS:C4022220") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100201") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196203,9 +196196,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022219") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100202") AnnotationAssertion(rdfs:label "Absent epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196217,9 +196210,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022218") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100203") AnnotationAssertion(rdfs:label "Bracket epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196231,9 +196224,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022217") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100204") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196245,9 +196238,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022216") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100205") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196259,9 +196252,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022215") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100206") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196273,9 +196266,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022214") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100207") AnnotationAssertion(rdfs:label "Irregular epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196287,9 +196280,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022213") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100208") AnnotationAssertion(rdfs:label "Ivory epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196312,9 +196305,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022211") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100210") AnnotationAssertion(rdfs:label "Small epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196327,9 +196320,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022210") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100211") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196341,9 +196334,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:03:31Z") AnnotationAssertion( "UMLS:C4022209") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100212") AnnotationAssertion(rdfs:label "Triangular epiphysis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196355,9 +196348,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022208") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100213") AnnotationAssertion(rdfs:label "Absent epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196369,9 +196362,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022207") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100214") AnnotationAssertion(rdfs:label "Bracket epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196383,9 +196376,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022206") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100215") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196397,9 +196390,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022205") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100216") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196411,9 +196404,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022204") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100217") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196425,9 +196418,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022203") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100218") AnnotationAssertion(rdfs:label "Irregular epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196439,9 +196432,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022202") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100219") AnnotationAssertion(rdfs:label "Ivory epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196465,9 +196458,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022200") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100221") AnnotationAssertion(rdfs:label "Small epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196480,9 +196473,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022199") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in middle part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in middle part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in middle part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in middle part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100222") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196494,9 +196487,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:00Z") AnnotationAssertion( "UMLS:C4022198") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the middle bone of the pinky toe") AnnotationAssertion( "HP:0100223") AnnotationAssertion(rdfs:label "Triangular epiphysis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196508,9 +196501,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022197") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100224") AnnotationAssertion(rdfs:label "Absent epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196522,9 +196515,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022196") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100225") AnnotationAssertion(rdfs:label "Bracket epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196536,9 +196529,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022195") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Cone-shaped end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100226") AnnotationAssertion(rdfs:label "Cone-shaped epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196550,9 +196543,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022194") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100227") AnnotationAssertion(rdfs:label "Enlarged epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196564,9 +196557,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022193") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fragmentation of the end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100228") AnnotationAssertion(rdfs:label "Fragmentation of the epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196578,9 +196571,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022192") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Irregular end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100229") AnnotationAssertion(rdfs:label "Irregular epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196592,9 +196585,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022191") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density of end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100230") AnnotationAssertion(rdfs:label "Ivory epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196618,9 +196611,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022189") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Small end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100232") AnnotationAssertion(rdfs:label "Small epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196633,9 +196626,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022188") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Speckled calcifications in the end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100233") AnnotationAssertion(rdfs:label "Stippling of the epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196647,9 +196640,9 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:04:53Z") AnnotationAssertion( "UMLS:C4022187") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular end part of the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100234") AnnotationAssertion(rdfs:label "Triangular epiphysis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -196661,7 +196654,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-24T05:26:38Z") AnnotationAssertion( "UMLS:C4022186") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving bones of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving bones of the toes") AnnotationAssertion( "HP:0100235") AnnotationAssertion(rdfs:label "Synostosis involving bones of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -196685,7 +196678,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-24T05:49:08Z") AnnotationAssertion( "UMLS:C4022184") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving bones of the upper limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving bones of the upper limbs") AnnotationAssertion( "HP:0100238") AnnotationAssertion(rdfs:label "Synostosis involving bones of the upper limbs") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -196699,7 +196692,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-24T06:04:02Z") AnnotationAssertion( "UMLS:C4022183") AnnotationAssertion( "Bony ankylosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of joints") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of joints") AnnotationAssertion( "HP:0100240") AnnotationAssertion(rdfs:comment "Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces.") AnnotationAssertion(rdfs:label "Synostosis of joints") @@ -196731,8 +196724,8 @@ AnnotationAssertion( "SNOMEDCT_US:424413001") AnnotationAssertion( "SNOMEDCT_US:424952003") AnnotationAssertion( "UMLS:C1261473") -AnnotationAssertion(Annotation( ) "Cancer of connective tissue") -AnnotationAssertion(Annotation( ) Annotation( ) "Malignant connective tissue tumor") +AnnotationAssertion(Annotation( ) "Cancer of connective tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Malignant connective tissue tumor") AnnotationAssertion(Annotation( ) "Malignant connective tissue tumour") AnnotationAssertion( "HP:0100242") AnnotationAssertion(rdfs:comment "A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels).") @@ -196810,9 +196803,9 @@ AnnotationAssertion( "UMLS:C0019521") AnnotationAssertion( "UMLS:C0744897") AnnotationAssertion( "Recurrent hiccough") -AnnotationAssertion(Annotation( ) "Recurrent hiccup") +AnnotationAssertion(Annotation( ) "Recurrent hiccup") AnnotationAssertion( "Recurrent synchronous diaphragmatic flutter") -AnnotationAssertion(Annotation( ) "Hiccup") +AnnotationAssertion(Annotation( ) "Hiccup") AnnotationAssertion(Annotation( ) "Hiccups") AnnotationAssertion( "HP:0100247") AnnotationAssertion(rdfs:comment "A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves.") @@ -196894,7 +196887,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-14T05:09:21Z") AnnotationAssertion( "UMLS:C4021027") -AnnotationAssertion(Annotation( ) "Abnormality of the marrow cavity of the long bones") +AnnotationAssertion(Annotation( ) "Abnormality of the marrow cavity of the long bones") AnnotationAssertion( "HP:0100253") AnnotationAssertion(rdfs:label "Abnormality of the medullary cavity of the long bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -196954,8 +196947,8 @@ AnnotationAssertion( "SNOMEDCT_US:13624003") AnnotationAssertion( "SNOMEDCT_US:81208006") AnnotationAssertion( "UMLS:C0265554") -AnnotationAssertion(Annotation( ) Annotation( ) "Cleft hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Lobster claw hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Cleft hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Lobster claw hand") AnnotationAssertion( "HP:0100257") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen.") @@ -197010,7 +197003,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-20T01:20:19Z") AnnotationAssertion( "UMLS:C4021026") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of tendon") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of tendon") AnnotationAssertion( "Abnormality of the sinew") AnnotationAssertion( "HP:0100261") AnnotationAssertion(rdfs:comment "A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force.") @@ -197023,7 +197016,7 @@ SubClassOf( ) AnnotationAssertion( "2010-07-20T02:58:46Z") AnnotationAssertion( "UMLS:C4022178") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving digits") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion involving digits") AnnotationAssertion( "HP:0100262") AnnotationAssertion(rdfs:label "Synostosis involving digits") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -197056,7 +197049,7 @@ SubClassOf( ) AnnotationAssertion( "2010-07-20T03:02:10Z") AnnotationAssertion( "UMLS:C4022177") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of long bones of hand/long bones of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of long bones of hand/long bones of foot") AnnotationAssertion( "HP:0100265") AnnotationAssertion(rdfs:label "Synostosis of metacarpals/metatarsals") SubClassOf( ) @@ -197073,7 +197066,7 @@ AnnotationAssertion( "Carpal and tarsal fusions") AnnotationAssertion( "Coalescence of carpal and tarsal bones") AnnotationAssertion( "Fusion of carpal and tarsal bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Wrist bone/ankle bone fusions") +AnnotationAssertion(Annotation( ) Annotation( ) "Wrist bone/ankle bone fusions") AnnotationAssertion( "HP:0100266") AnnotationAssertion(rdfs:label "Synostosis of carpals/tarsals") SubClassOf( ) @@ -197156,7 +197149,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126838000") AnnotationAssertion( "UMLS:C0009375") -AnnotationAssertion(Annotation( ) Annotation( ) "Colon tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Colon tumor") AnnotationAssertion(Annotation( ) "Colon tumour") AnnotationAssertion( "HP:0100273") AnnotationAssertion(rdfs:label "Neoplasm of the colon") @@ -197193,8 +197186,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-08-05T10:51:32Z") AnnotationAssertion( "UMLS:C4020712") AnnotationAssertion( "UMLS:C4022172") -AnnotationAssertion(Annotation( ) "Skin pit") -AnnotationAssertion(Annotation( ) "Skin pits") +AnnotationAssertion(Annotation( ) "Skin pit") +AnnotationAssertion(Annotation( ) "Skin pits") AnnotationAssertion( "HP:0100276") AnnotationAssertion(rdfs:label "Skin pit") SubClassOf( ) @@ -197209,7 +197202,7 @@ AnnotationAssertion(Annotation( ) "Periauricular fistulas") AnnotationAssertion(Annotation( ) "Periauricular pits") AnnotationAssertion(Annotation( ) "Periauricular sinus") -AnnotationAssertion(Annotation( ) Annotation( ) "Pits around the ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Pits around the ear") AnnotationAssertion( "HP:0100277") AnnotationAssertion(rdfs:label "Periauricular skin pits") SubClassOf( ) @@ -197377,7 +197370,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0100294") AnnotationAssertion( "SNOMEDCT_US:67867005") AnnotationAssertion( "UMLS:C0333751") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle fiber degeneration") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle fiber degeneration") AnnotationAssertion( "Muscle fibre atrophy") AnnotationAssertion(Annotation( ) "Muscle fibre degeneration") AnnotationAssertion( "HP:0100295") @@ -197757,10 +197750,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-09-16T06:03:58Z") AnnotationAssertion( "SNOMEDCT_US:15911003") AnnotationAssertion( "UMLS:C0266815") -AnnotationAssertion(Annotation( ) "Cow milk allergy") +AnnotationAssertion(Annotation( ) "Cow milk allergy") AnnotationAssertion( "IgE-mediated cow milk allergy") AnnotationAssertion( "Immunoglobulin E-mediated cow milk allergy") -AnnotationAssertion(Annotation( ) Annotation( ) "Milk allergy") +AnnotationAssertion(Annotation( ) Annotation( ) "Milk allergy") AnnotationAssertion( "HP:0100327") AnnotationAssertion(rdfs:label "Cow milk allergy") SubClassOf( ) @@ -197771,7 +197764,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-10-08T03:52:00Z") AnnotationAssertion( "UMLS:C4022145") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused wrist bones and long bones of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused wrist bones and long bones of hand") AnnotationAssertion( "HP:0100328") AnnotationAssertion(rdfs:label "Carpometacarpal synostosis") SubClassOf( ) @@ -197782,7 +197775,7 @@ SubClassOf( ) AnnotationAssertion( "2010-10-08T03:53:06Z") AnnotationAssertion( "UMLS:C4022144") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of the midfoot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused bones of the midfoot") AnnotationAssertion( "HP:0100329") AnnotationAssertion(rdfs:label "Tarsometatarsal synostosis") SubClassOf( ) @@ -197796,7 +197789,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0100331") AnnotationAssertion( "SNOMEDCT_US:304067009") AnnotationAssertion( "UMLS:C0392006") -AnnotationAssertion(Annotation( ) Annotation( ) "One sided cleft upper lip") +AnnotationAssertion(Annotation( ) Annotation( ) "One sided cleft upper lip") AnnotationAssertion(Annotation( ) "Unilateral cheiloschisis") AnnotationAssertion(Annotation( ) Annotation( ) "Unilateral cleft upper lip") AnnotationAssertion( "HP:0100333") @@ -197808,7 +197801,7 @@ SubClassOf( ) AnnotationAssertion( "2010-10-13T04:16:12Z") AnnotationAssertion( "UMLS:C4022143") -AnnotationAssertion(Annotation( ) Annotation( ) "One sided cleft palate") +AnnotationAssertion(Annotation( ) Annotation( ) "One sided cleft palate") AnnotationAssertion(Annotation( ) "Unilateral palatoschisis") AnnotationAssertion( "HP:0100334") AnnotationAssertion(rdfs:label "Unilateral cleft palate") @@ -197836,8 +197829,8 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:304068004") AnnotationAssertion( "UMLS:C0392005") AnnotationAssertion(Annotation( ) "Bilateral cheiloschisis") -AnnotationAssertion(Annotation( ) Annotation( ) "Both sided cleft lip") -AnnotationAssertion(Annotation( ) Annotation( ) "Right and left cleft lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Both sided cleft lip") +AnnotationAssertion(Annotation( ) Annotation( ) "Right and left cleft lip") AnnotationAssertion( "HP:0100336") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Bilateral cleft lip") @@ -197850,7 +197843,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-10-13T04:16:32Z") AnnotationAssertion( "UMLS:C3553084") AnnotationAssertion(Annotation( ) "Bilateral palatoschisis") -AnnotationAssertion(Annotation( ) Annotation( ) "Right and left cleft palate") +AnnotationAssertion(Annotation( ) Annotation( ) "Right and left cleft palate") AnnotationAssertion( "HP:0100337") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Bilateral cleft palate") @@ -198032,7 +198025,7 @@ SubClassOf( ) "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.") AnnotationAssertion( "UMLS:C4022130") -AnnotationAssertion(Annotation( ) Annotation( ) "Contracture of the outermost hinge joint of the 5th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Contracture of the outermost hinge joint of the 5th toe") AnnotationAssertion( "HP:0100355") AnnotationAssertion(rdfs:label "Contractures of the distal interphalangeal joint of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -198089,7 +198082,7 @@ SubClassOf( (Aplasia of the phalanges of the 3rd toe) AnnotationAssertion( "UMLS:C4022125") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent digital bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent digital bone of the 3rd toe") AnnotationAssertion( "HP:0100362") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198100,7 +198093,7 @@ SubClassOf( (Aplasia of the phalanges of the 4th toe) AnnotationAssertion( "UMLS:C4022124") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent bones of the 4th toe") AnnotationAssertion( "HP:0100363") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198111,9 +198104,9 @@ SubClassOf( (Aplasia of the phalanges of the 5th toe) AnnotationAssertion( "UMLS:C4022123") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent little toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinkie toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinky toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent little toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinkie toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pinky toe bones") AnnotationAssertion( "HP:0100364") AnnotationAssertion(rdfs:label "Aplasia of the phalanges of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198126,7 +198119,7 @@ SubClassOf( ) "Developmental hypoplasia of the phalanx of third toe.") AnnotationAssertion( "UMLS:C4021014") AnnotationAssertion( "Hypoplastic/small phalanges of the 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 3rd toe bone") AnnotationAssertion( "Short phalanx of the third toe") AnnotationAssertion( "HP:0100366") AnnotationAssertion(rdfs:label "Short phalanx of the 3rd toe") @@ -198140,7 +198133,7 @@ SubClassOf( ) "Developmental hypoplasia of one or more phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4021013") AnnotationAssertion( "Hypoplastic/small phalanges of the 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short 4th toe bone") AnnotationAssertion( "Short phalanx of the fourth toe") AnnotationAssertion( "HP:0100367") AnnotationAssertion(rdfs:label "Short phalanx of the 4th toe") @@ -198154,10 +198147,10 @@ SubClassOf( ) "Developmental hypoplasia of one or more phalanx of little toe.") AnnotationAssertion( "UMLS:C4021012") AnnotationAssertion( "Hypoplastic/small phalanges of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short little toe bone") AnnotationAssertion( "Short phalanx of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pinky toe bone") AnnotationAssertion( "HP:0100368") AnnotationAssertion(rdfs:label "Short phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198168,8 +198161,8 @@ SubClassOf( (Aplasia/Hypoplasia of the distal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022122") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost 3rd toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost 3rd toe bone") AnnotationAssertion( "HP:0100369") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198181,8 +198174,8 @@ SubClassOf( (Aplasia/Hypoplasia of the distal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022121") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost bone of 4th toe") AnnotationAssertion( "HP:0100370") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198194,10 +198187,10 @@ SubClassOf( (Aplasia/Hypoplasia of the distal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022120") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost pinky toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small outermost pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped outermost pinky toe bone") AnnotationAssertion( "HP:0100371") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198209,8 +198202,8 @@ SubClassOf( (Aplasia/Hypoplasia of the middle phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022119") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle 3rd toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle 3rd toe bone") AnnotationAssertion( "HP:0100372") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198222,8 +198215,8 @@ SubClassOf( (Aplasia/Hypoplasia of the middle phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022118") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of the 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of the 4th toe") AnnotationAssertion( "HP:0100373") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198235,10 +198228,10 @@ SubClassOf( (Aplasia/Hypoplasia of the middle phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022117") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle 5th toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small middle 5th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped middle bone of pinky toe") AnnotationAssertion( "HP:0100374") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198251,8 +198244,8 @@ SubClassOf( ) "Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.") AnnotationAssertion( "UMLS:C4022116") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost bone of 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost bone of 3rd toe") AnnotationAssertion( "HP:0100375") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198265,8 +198258,8 @@ SubClassOf( ) "Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.") AnnotationAssertion( "UMLS:C4022115") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost 4th toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost 4th toe bone") AnnotationAssertion( "HP:0100376") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198279,10 +198272,10 @@ SubClassOf( ) "Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.") AnnotationAssertion( "UMLS:C4022114") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinky toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost 5th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small innermost pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped innermost 5th toe bone") AnnotationAssertion( "HP:0100377") AnnotationAssertion(rdfs:label "Aplasia/hypoplasia of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198296,7 +198289,7 @@ SubClassOf( ) "Developmental aplasia of the distal phalanx of third toe.") AnnotationAssertion( "UMLS:C4021011") AnnotationAssertion( "Absent distal phalanx of the third toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the 3rd toe") AnnotationAssertion( "Aplasia of the distal phalanx of the 3rd toe") AnnotationAssertion( "HP:0100378") AnnotationAssertion(rdfs:label "Absent distal phalanx of the 3rd toe") @@ -198309,7 +198302,7 @@ SubClassOf( "UMLS:C4022113") AnnotationAssertion(Annotation( ) "Absent distal phalanx of the 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the 4th toe") AnnotationAssertion( "HP:0100379") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198320,9 +198313,9 @@ SubClassOf( (Aplasia of the distal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022112") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent outermost bone of the pinky toe") AnnotationAssertion( "HP:0100380") AnnotationAssertion(rdfs:label "Aplasia of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198334,7 +198327,7 @@ SubClassOf( ) "Developmental aplasia of the middle phalanx of third toe.") AnnotationAssertion( "UMLS:C4021010") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of the 3rd toe") AnnotationAssertion( "Absent middle phalanx of the third toe") AnnotationAssertion( "Aplasia of the middle phalanx of the 3rd toe") AnnotationAssertion( "HP:0100381") @@ -198347,7 +198340,7 @@ SubClassOf( (Aplasia of the middle phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022111") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of 4th toe") AnnotationAssertion( "HP:0100382") AnnotationAssertion(rdfs:label "Aplasia of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198358,9 +198351,9 @@ SubClassOf( (Aplasia of the middle phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022110") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle bone of pinky toe") AnnotationAssertion( "HP:0100383") AnnotationAssertion(rdfs:label "Aplasia of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198372,7 +198365,7 @@ SubClassOf( ) "Absence of proximal phalanx of third toe, owing to a congenital defect of development.") AnnotationAssertion( "UMLS:C4021009") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the 3rd toe") AnnotationAssertion( "Aplasia of the proximal phalanx of the 3rd toe") AnnotationAssertion( "HP:0100384") AnnotationAssertion(rdfs:label "Absent proximal phalanx of the 3rd toe") @@ -198384,7 +198377,7 @@ SubClassOf( (Aplasia of the proximal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022109") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the 4th toe") AnnotationAssertion( "HP:0100385") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198395,9 +198388,9 @@ SubClassOf( (Aplasia of the proximal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022108") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost bone of the pinky toe") AnnotationAssertion( "HP:0100386") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198410,7 +198403,7 @@ SubClassOf( ) AnnotationAssertion( "2010-11-11T04:55:30Z") AnnotationAssertion( "UMLS:C4022107") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent middle toe bones") AnnotationAssertion( "HP:0100387") AnnotationAssertion(rdfs:label "Aplasia of the middle phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198421,7 +198414,7 @@ SubClassOf( ) AnnotationAssertion( "2010-11-11T04:55:30Z") AnnotationAssertion( "UMLS:C4022106") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent innermost toe bones") AnnotationAssertion( "HP:0100388") AnnotationAssertion(rdfs:label "Aplasia of the proximal phalanges of the toes") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198433,7 +198426,7 @@ AnnotationAssertion(Annotation( "UMLS:C4021008") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 3rd toe") AnnotationAssertion( "Short distal phalanx of the third toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100389") AnnotationAssertion(rdfs:label "Short distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198446,7 +198439,7 @@ AnnotationAssertion(Annotation( "UMLS:C4021007") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 4th toe") AnnotationAssertion( "Short distal phalanx of the fourth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the 4th toe") AnnotationAssertion( "HP:0100390") AnnotationAssertion(rdfs:label "Short distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198459,9 +198452,9 @@ AnnotationAssertion(Annotation( "UMLS:C4021006") AnnotationAssertion( "Hypoplastic/small distal phalanx of the 5th toe") AnnotationAssertion( "Short distal phalanx of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short outermost bone of the pinky toe") AnnotationAssertion( "HP:0100391") AnnotationAssertion(rdfs:label "Short distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198485,7 +198478,7 @@ SubClassOf( ) "Developmental hypoplasia of the middle phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4021004") AnnotationAssertion( "Hypoplastic/small middle phalanx of the 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of 4th toe") AnnotationAssertion( "Short middle phalanx of the fourth toe") AnnotationAssertion( "HP:0100393") AnnotationAssertion(rdfs:label "Short middle phalanx of the 4th toe") @@ -198497,10 +198490,10 @@ SubClassOf( ) "Developmental hypoplasia of the middle phalanx of the 5th toe.") AnnotationAssertion( "UMLS:C4021003") -AnnotationAssertion(Annotation( ) "Hypoplastic/small middle phalanx of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of pinky toe") +AnnotationAssertion(Annotation( ) "Hypoplastic/small middle phalanx of the 5th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short middle bone of pinky toe") AnnotationAssertion( "Short middle phalanx of the fifth toe") AnnotationAssertion( "HP:0100394") AnnotationAssertion(rdfs:label "Short middle phalanx of the 5th toe") @@ -198538,11 +198531,11 @@ SubClassOf( ) "Developmental hypoplasia of the proximal phalanx of fifth toe.") AnnotationAssertion( "UMLS:C4021000") -AnnotationAssertion(Annotation( ) "Hypoplastic/small proximal phalanx of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of pinky toe") -AnnotationAssertion(Annotation( ) "Short proximal phalanx of the fifth toe") +AnnotationAssertion(Annotation( ) "Hypoplastic/small proximal phalanx of the 5th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Short innermost bone of pinky toe") +AnnotationAssertion(Annotation( ) "Short proximal phalanx of the fifth toe") AnnotationAssertion( "HP:0100397") AnnotationAssertion(rdfs:label "Short proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198554,7 +198547,7 @@ SubClassOf( ) "Partial or complete duplication of distal phalanx of third toe.") AnnotationAssertion( "UMLS:C4020999") AnnotationAssertion( "Duplication of the distal phalanx of the third toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the 3rd toe") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 3rd toe") AnnotationAssertion( "HP:0100398") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 3rd toe") @@ -198566,7 +198559,7 @@ SubClassOf( ) "Partial or complete duplication of the distal phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020998") AnnotationAssertion( "Duplication of the distal phalanx of the fourth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the 4th toe") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 4th toe") AnnotationAssertion( "HP:0100399") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 4th toe") @@ -198578,10 +198571,10 @@ SubClassOf( ) "Partial or complete duplication of the distal phalanx of little toe.") AnnotationAssertion( "UMLS:C4020997") AnnotationAssertion( "Duplication of the distal phalanx of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the fifth toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the outermost bone of the pinky toe") AnnotationAssertion( "Partial/complete duplication of the distal phalanx of the 5th toe") AnnotationAssertion( "HP:0100400") AnnotationAssertion(rdfs:label "Duplication of the distal phalanx of the 5th toe") @@ -198592,7 +198585,7 @@ SubClassOf( ) "Partial or complete duplication of middle phalanx of third toe.") AnnotationAssertion( "UMLS:C4020996") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the 3rd toe") AnnotationAssertion( "Duplication of the middle phalanx of the third toe") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 3rd toe") AnnotationAssertion( "HP:0100401") @@ -198605,7 +198598,7 @@ SubClassOf( ) "Partial or complete duplication of middle phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020995") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the 4th toe") AnnotationAssertion( "Duplication of the middle phalanx of the fourth toe") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 4th toe") AnnotationAssertion( "HP:0100402") @@ -198617,9 +198610,9 @@ SubClassOf( ) "Partial or complete duplication of the middle phalanx of the 5th toe.") AnnotationAssertion( "UMLS:C4020994") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the middle bone of the pinky toe") AnnotationAssertion( "Duplication of the middle phalanx of the fifth toe") AnnotationAssertion( "Partial/complete duplication of the middle phalanx of the 5th toe") AnnotationAssertion( "HP:0100403") @@ -198632,7 +198625,7 @@ SubClassOf( ) "Partial or complete duplication of proximal phalanx of third toe.") AnnotationAssertion( "UMLS:C4020993") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost 3rd toe bone") AnnotationAssertion( "Duplication of the proximal phalanx of the third toe") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 3rd toe") AnnotationAssertion( "HP:0100404") @@ -198645,7 +198638,7 @@ SubClassOf( ) "Partial or complete duplication of the proximal phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020992") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost 4th toe bone") AnnotationAssertion( "Duplication of the proximal phalanx of the fourth toe") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 4th toe") AnnotationAssertion( "HP:0100405") @@ -198658,9 +198651,9 @@ SubClassOf( ) "Partial or complete duplication of the proximal phalanx of fifth toe.") AnnotationAssertion( "UMLS:C4020991") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of the innermost bone of the pinky toe") AnnotationAssertion( "Duplication of the proximal phalanx of the fifth toe") AnnotationAssertion( "Partial/complete duplication of the proximal phalanx of the 5th toe") AnnotationAssertion( "HP:0100406") @@ -198673,7 +198666,7 @@ SubClassOf( ) "Complete duplication of distal phalanx of third toe.") AnnotationAssertion( "UMLS:C4020990") AnnotationAssertion( "Complete duplication of the distal phalanx of the third toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100407") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198684,7 +198677,7 @@ SubClassOf( ) "Complete duplication of the distal phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020989") AnnotationAssertion( "Complete duplication of the distal phalanx of the fourth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100408") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198695,9 +198688,9 @@ SubClassOf( ) "Complete duplication of the distal phalanx of little toe.") AnnotationAssertion( "UMLS:C4020988") AnnotationAssertion( "Complete duplication of the distal phalanx of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100409") AnnotationAssertion(rdfs:label "Complete duplication of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198707,7 +198700,7 @@ SubClassOf( ) "Complete duplication of middle phalanx of third toe.") AnnotationAssertion( "UMLS:C4020987") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the 3rd toe") AnnotationAssertion( "Complete duplication of the middle phalanx of the third toe") AnnotationAssertion( "HP:0100410") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 3rd toe") @@ -198718,7 +198711,7 @@ SubClassOf( ) "Complete duplication of middle phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020986") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the 4th toe") AnnotationAssertion( "Complete duplication of the middle phalanx of the fourth toe") AnnotationAssertion( "HP:0100411") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 4th toe") @@ -198729,9 +198722,9 @@ SubClassOf( ) "Complete duplication of the middle phalanx of the 5th toe.") AnnotationAssertion( "UMLS:C4020985") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the middle bone of the pinky toe") AnnotationAssertion( "Complete duplication of the middle phalanx of the fifth toe") AnnotationAssertion( "HP:0100412") AnnotationAssertion(rdfs:label "Complete duplication of the middle phalanx of the 5th toe") @@ -198741,7 +198734,7 @@ SubClassOf( ) "Complete duplication of proximal phalanx of third toe.") AnnotationAssertion( "UMLS:C4022105") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost 3rd toe bone") AnnotationAssertion( "HP:0100413") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198750,7 +198743,7 @@ SubClassOf( (Complete duplication of the proximal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022104") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost 4th toe bone") AnnotationAssertion( "HP:0100414") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 4th toe") SubClassOf( ) @@ -198759,9 +198752,9 @@ SubClassOf( ) "Complete duplication of the proximal phalanx of fifth toe.") AnnotationAssertion( "UMLS:C4020984") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Complete duplication of the innermost bone of the pinky toe") AnnotationAssertion( "Complete duplication of the proximal phalanx of the fifth toe") AnnotationAssertion( "HP:0100415") AnnotationAssertion(rdfs:label "Complete duplication of the proximal phalanx of the 5th toe") @@ -198773,7 +198766,7 @@ SubClassOf( ) "Partial duplication of distal phalanx of third toe.") AnnotationAssertion( "UMLS:C4020983") AnnotationAssertion( "Partial duplication of the distal phalanx of the third toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100416") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 3rd toe") SubClassOf( ) @@ -198783,7 +198776,7 @@ SubClassOf( ) "Partial duplication of the distal phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020982") AnnotationAssertion( "Partial duplication of the distal phalanx of the fourth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the fourth toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the fourth toe") AnnotationAssertion( "HP:0100417") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 4th toe") SubClassOf( ) @@ -198793,10 +198786,10 @@ SubClassOf( ) "Partial duplication of the distal phalanx of little toe.") AnnotationAssertion( "UMLS:C4020981") AnnotationAssertion( "Partial duplication of the distal phalanx of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the fifth toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the fifth toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100418") AnnotationAssertion(rdfs:label "Partial duplication of the distal phalanx of the 5th toe") SubClassOf( ) @@ -198805,7 +198798,7 @@ SubClassOf( ) "Partial duplication of middle phalanx of third toe.") AnnotationAssertion( "UMLS:C4020980") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of 3rd toe") AnnotationAssertion( "Partial duplication of the middle phalanx of the third toe") AnnotationAssertion( "HP:0100419") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 3rd toe") @@ -198815,7 +198808,7 @@ SubClassOf( ) "Partial duplication of middle phalanx of fourth toe.") AnnotationAssertion( "UMLS:C4020979") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the 4th toe") AnnotationAssertion( "Partial duplication of the middle phalanx of the fourth toe") AnnotationAssertion( "HP:0100420") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 4th toe") @@ -198825,9 +198818,9 @@ SubClassOf( ) "Partial duplication of the middle phalanx of the 5th toe.") AnnotationAssertion( "UMLS:C4020978") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the middle bone of the pinky toe") AnnotationAssertion( "Partial duplication of the middle phalanx of the fifth toe") AnnotationAssertion( "HP:0100421") AnnotationAssertion(rdfs:label "Partial duplication of the middle phalanx of the 5th toe") @@ -198837,7 +198830,7 @@ SubClassOf( ) "Partial duplication of proximal phalanx of third toe.") AnnotationAssertion( "UMLS:C4020977") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of 3rd toe") AnnotationAssertion( "Partial duplication of the proximal phalanx of the third toe") AnnotationAssertion( "HP:0100422") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 3rd toe") @@ -198846,7 +198839,7 @@ SubClassOf( (Partial duplication of the proximal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022103") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of 4th toe") AnnotationAssertion( "HP:0100423") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 4th toe") SubClassOf( ) @@ -198855,9 +198848,9 @@ SubClassOf( ) "Partial duplication of the proximal phalanx of fifth toe.") AnnotationAssertion( "UMLS:C4020976") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial duplication of the innermost bone of the pinky toe") AnnotationAssertion( "Partial duplication of the proximal phalanx of the fifth toe") AnnotationAssertion( "HP:0100424") AnnotationAssertion(rdfs:label "Partial duplication of the proximal phalanx of the 5th toe") @@ -198866,7 +198859,7 @@ SubClassOf( (Broad middle phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022102") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle 3rd toe bone") AnnotationAssertion( "HP:0100425") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198877,7 +198870,7 @@ SubClassOf( (Broad middle phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022101") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle 4th toe bone") AnnotationAssertion( "HP:0100426") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198888,9 +198881,9 @@ SubClassOf( (Broad middle phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022100") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad middle bone of the pinky toe") AnnotationAssertion( "HP:0100427") AnnotationAssertion(rdfs:label "Broad middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198901,7 +198894,7 @@ SubClassOf( (Broad proximal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022099") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost bone of 3rd toe") AnnotationAssertion( "HP:0100428") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198912,7 +198905,7 @@ SubClassOf( (Broad proximal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022098") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide innermost bone of 4th toe") AnnotationAssertion( "HP:0100429") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198923,9 +198916,9 @@ SubClassOf( (Broad proximal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022097") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad innermost bone of the pinky toe") AnnotationAssertion( "HP:0100430") AnnotationAssertion(rdfs:label "Broad proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198936,8 +198929,8 @@ SubClassOf( (Broad distal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022096") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 3rd toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100431") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198948,8 +198941,8 @@ SubClassOf( (Broad distal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022095") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 4th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the 4th toe") AnnotationAssertion( "HP:0100432") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198960,10 +198953,10 @@ SubClassOf( (Broad distal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022094") -AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 5th toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Broad outermost bone of the 5th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Wide outermost bone of the pinky toe") AnnotationAssertion( "HP:0100433") AnnotationAssertion(rdfs:label "Broad distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -198975,7 +198968,7 @@ SubClassOf( ) "An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022093") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the 3rd toe") AnnotationAssertion( "HP:0100434") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 3rd toe") SubClassOf( ) @@ -198984,7 +198977,7 @@ SubClassOf( ) "An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022092") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the 4th toe") AnnotationAssertion( "HP:0100435") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 4th toe") SubClassOf( ) @@ -198993,9 +198986,9 @@ SubClassOf( ) "An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022091") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped middle bone of the pinky toe") AnnotationAssertion( "HP:0100436") AnnotationAssertion(rdfs:label "Bullet-shaped middle phalanx of the 5th toe") SubClassOf( ) @@ -199004,7 +198997,7 @@ SubClassOf( ) "An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022090") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped proximal bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped proximal bone of the 3rd toe") AnnotationAssertion( "HP:0100437") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 3rd toe") SubClassOf( ) @@ -199014,7 +199007,7 @@ SubClassOf( ) "An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022089") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped proximal bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped proximal bone of the 4th toe") AnnotationAssertion( "HP:0100438") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 4th toe") SubClassOf( ) @@ -199024,9 +199017,9 @@ SubClassOf( ) "An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022088") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped innermost bone of pinky toe") AnnotationAssertion( "HP:0100439") AnnotationAssertion(rdfs:label "Bullet-shaped proximal phalanx of the 5th toe") SubClassOf( ) @@ -199036,7 +199029,7 @@ SubClassOf( ) "An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022087") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100440") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 3rd toe") SubClassOf( ) @@ -199045,7 +199038,7 @@ SubClassOf( ) "An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022086") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the 4th toe") AnnotationAssertion( "HP:0100441") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 4th toe") SubClassOf( ) @@ -199054,9 +199047,9 @@ SubClassOf( ) "An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.") AnnotationAssertion( "UMLS:C4022085") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Bullet-shaped outermost bone of the pinky toe") AnnotationAssertion( "HP:0100442") AnnotationAssertion(rdfs:label "Bullet-shaped distal phalanx of the 5th toe") SubClassOf( ) @@ -199065,7 +199058,7 @@ SubClassOf( ) "A deviation from the normal straight form of the middle phalanx of the third toe.") AnnotationAssertion( "UMLS:C4022084") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of 3rd toe") AnnotationAssertion( "HP:0100443") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199077,7 +199070,7 @@ SubClassOf( ) "A deviation from the normal straight form of the middle phalanx of the fourth toe.") AnnotationAssertion( "UMLS:C4022083") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of 4th toe") AnnotationAssertion( "HP:0100444") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199089,9 +199082,9 @@ SubClassOf( ) "A deviation from the normal straight form of the middle phalanx of the fifth toe.") AnnotationAssertion( "UMLS:C4022082") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved middle bone of pinky toe") AnnotationAssertion( "HP:0100445") AnnotationAssertion(rdfs:label "Curved middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199103,7 +199096,7 @@ SubClassOf( ) "A deviation from the normal straight form of the proximal phalanx of the third toe.") AnnotationAssertion( "UMLS:C4022081") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of 3rd toe") AnnotationAssertion( "HP:0100446") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199115,7 +199108,7 @@ SubClassOf( ) "A deviation from the normal straight form of the proximal phalanx of the fourth toe.") AnnotationAssertion( "UMLS:C4022080") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost bone of the 4th toe") AnnotationAssertion( "HP:0100447") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199127,9 +199120,9 @@ SubClassOf( ) "A deviation from the normal straight form of the proximal phalanx of the fifth toe.") AnnotationAssertion( "UMLS:C4022079") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved innermost pinky toe bone") AnnotationAssertion( "HP:0100448") AnnotationAssertion(rdfs:label "Curved proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199141,7 +199134,7 @@ SubClassOf( ) "A deviation from the normal straight form of the distal phalanx of the third toe.") AnnotationAssertion( "UMLS:C4022078") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100449") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199153,7 +199146,7 @@ SubClassOf( ) "A deviation from the normal straight form of the distal phalanx of the fourth toe.") AnnotationAssertion( "UMLS:C4022077") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the 4th toe") AnnotationAssertion( "HP:0100450") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199165,9 +199158,9 @@ SubClassOf( ) "A deviation from the normal straight form of the distal phalanx of the fifth toe.") AnnotationAssertion( "UMLS:C4022076") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Curved outermost bone of the pinky toe") AnnotationAssertion( "HP:0100451") AnnotationAssertion(rdfs:label "Curved distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199244,7 +199237,7 @@ SubClassOf( (Patchy sclerosis of the middle phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022066") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100461") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199256,7 +199249,7 @@ SubClassOf( ) "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.") AnnotationAssertion( "UMLS:C4022065") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in middle bone of the 4th toe") AnnotationAssertion( "HP:0100462") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199268,9 +199261,9 @@ SubClassOf( ) "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.") AnnotationAssertion( "UMLS:C4022064") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the middle bone of the pinky toe") AnnotationAssertion( "HP:0100463") AnnotationAssertion(rdfs:label "Patchy sclerosis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199281,7 +199274,7 @@ SubClassOf( (Patchy sclerosis of the proximal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022063") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100464") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199293,7 +199286,7 @@ SubClassOf( ) "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.") AnnotationAssertion( "UMLS:C4022062") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100465") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199305,9 +199298,9 @@ SubClassOf( ) "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.") AnnotationAssertion( "UMLS:C4022061") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100466") AnnotationAssertion(rdfs:label "Patchy sclerosis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199318,7 +199311,7 @@ SubClassOf( (Patchy sclerosis of the distal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022060") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100467") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199342,9 +199335,9 @@ SubClassOf( ) "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.") AnnotationAssertion( "UMLS:C4022058") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven increase in bone density in the outermost pinky toe bone") AnnotationAssertion( "HP:0100469") AnnotationAssertion(rdfs:label "Patchy sclerosis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199355,7 +199348,7 @@ SubClassOf( (Symphalangism affecting the middle phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022057") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of 3rd toe") AnnotationAssertion( "HP:0100470") AnnotationAssertion(rdfs:label "Symphalangism affecting the middle phalanx of the 3rd toe") SubClassOf( ) @@ -199363,7 +199356,7 @@ SubClassOf( (Symphalangism affecting the middle phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022056") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of 4th toe") AnnotationAssertion( "HP:0100471") AnnotationAssertion(rdfs:label "Symphalangism affecting the middle phalanx of the 4th toe") SubClassOf( ) @@ -199371,7 +199364,7 @@ SubClassOf( (Symphalangism affecting the middle phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022055") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of 5th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle bones of 5th toe") AnnotationAssertion( "HP:0100472") AnnotationAssertion(rdfs:label "Symphalangism affecting the middle phalanx of the 5th toe") SubClassOf( ) @@ -199379,7 +199372,7 @@ SubClassOf( (Symphalangism affecting the proximal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022054") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of 3rd toe") AnnotationAssertion( "HP:0100473") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 3rd toe") SubClassOf( ) @@ -199387,7 +199380,7 @@ SubClassOf( (Symphalangism affecting the proximal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022053") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of 4th toe") AnnotationAssertion( "HP:0100474") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 4th toe") SubClassOf( ) @@ -199395,9 +199388,9 @@ SubClassOf( (Symphalangism affecting the proximal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022052") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of pinky toe") AnnotationAssertion( "HP:0100475") AnnotationAssertion(rdfs:label "Symphalangism affecting the proximal phalanx of the 5th toe") SubClassOf( ) @@ -199405,7 +199398,7 @@ SubClassOf( (Symphalangism affecting the distal phalanx of the 3rd toe) AnnotationAssertion( "UMLS:C4022051") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of 3rd toe") AnnotationAssertion( "HP:0100476") AnnotationAssertion(rdfs:label "Symphalangism affecting the distal phalanx of the 3rd toe") SubClassOf( ) @@ -199414,7 +199407,7 @@ SubClassOf( (Symphalangism affecting the distal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4022050") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bone of the 4th toe") AnnotationAssertion( "HP:0100477") AnnotationAssertion(rdfs:label "Symphalangism affecting the distal phalanx of the 4th toe") SubClassOf( ) @@ -199423,9 +199416,9 @@ SubClassOf( (Symphalangism affecting the distal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022049") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused outermost bones of the pinky toe") AnnotationAssertion( "HP:0100478") AnnotationAssertion(rdfs:label "Symphalangism affecting the distal phalanx of the 5th toe") SubClassOf( ) @@ -199435,7 +199428,7 @@ SubClassOf( ) "Bony fusion of the middle and proximal phalanges of the 3rd toe.") AnnotationAssertion( "UMLS:C4020975") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of 3rd toe") AnnotationAssertion( "Symphalangism of the middle and proximal phalanges of the 3rd toe") AnnotationAssertion( "HP:0100480") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of 3rd toe") @@ -199448,7 +199441,7 @@ SubClassOf( ) "Bony fusion of the middle and proximal phalanges of the 4th toe.") AnnotationAssertion( "UMLS:C4020974") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle bones of 4th toe") AnnotationAssertion( "Symphalangism of the middle and proximal phalanges of the 4th toe") AnnotationAssertion( "HP:0100481") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of 4th toe") @@ -199461,9 +199454,9 @@ SubClassOf( ) "Bony fusion of the middle and proximal phalanges of the 5th toe.") AnnotationAssertion( "UMLS:C4020973") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle little toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle pinkie toe bones") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle pinky toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle little toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle pinkie toe bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost and middle pinky toe bones") AnnotationAssertion( "Symphalangism of the middle and proximal phalanges of the 5th toe") AnnotationAssertion( "HP:0100482") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of 5th toe") @@ -199475,7 +199468,7 @@ SubClassOf( (Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal) AnnotationAssertion( "UMLS:C4022048") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of 2nd toe with the 2nd long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of 2nd toe with the 2nd long bone of foot") AnnotationAssertion( "HP:0100483") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal") SubClassOf( ) @@ -199485,7 +199478,7 @@ SubClassOf( (Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal) AnnotationAssertion( "UMLS:C4022047") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of third toe with 3rd long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bones of third toe with 3rd long bone of foot") AnnotationAssertion( "HP:0100484") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal") SubClassOf( ) @@ -199495,7 +199488,7 @@ SubClassOf( (Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal) AnnotationAssertion( "UMLS:C4022046") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of the 4th toe with 4th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost bone of the 4th toe with 4th long bone of foot") AnnotationAssertion( "HP:0100485") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal") SubClassOf( ) @@ -199505,7 +199498,7 @@ SubClassOf( (Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal) AnnotationAssertion( "UMLS:C4022045") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost pinky toe bone with the 5th long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused innermost pinky toe bone with the 5th long bone of foot") AnnotationAssertion( "HP:0100486") AnnotationAssertion(rdfs:label "Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal") SubClassOf( ) @@ -199515,9 +199508,9 @@ SubClassOf( (Triangular shaped distal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4022044") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Triangular shaped outermost bone of the pinky toe") AnnotationAssertion( "HP:0100487") AnnotationAssertion(rdfs:label "Triangular shaped distal phalanx of the 5th toe") SubClassOf( ) @@ -199527,7 +199520,7 @@ SubClassOf( ) AnnotationAssertion( "2010-11-18T06:24:21Z") AnnotationAssertion( "UMLS:C4022043") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of the innermost big toe bone with the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of the innermost big toe bone with the 1st long bone of foot") AnnotationAssertion( "HP:0100488") AnnotationAssertion(rdfs:label "Synostosis of the proximal phalanx of the hallux with the 1st metatarsal") SubClassOf( ) @@ -199543,7 +199536,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-11-18T06:49:16Z") AnnotationAssertion( "HP:0100479") AnnotationAssertion( "UMLS:C4020972") -AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle and innermost bones of 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Fused middle and innermost bones of 2nd toe") AnnotationAssertion( "Symphalangism of the middle and proximal phalanges of the 2nd toe") AnnotationAssertion( "HP:0100489") AnnotationAssertion(rdfs:label "Proximal/middle symphalangism of 2nd toe") @@ -199572,7 +199565,7 @@ AnnotationAssertion( "Camptodactyly of proximal interphalangeal joint") AnnotationAssertion( "Contractures of the proximal interphalangeal joints of the fingers") AnnotationAssertion( "Flexion contractures of proximal interphalangeal joints") -AnnotationAssertion(Annotation( ) Annotation( ) "Permanent flexion of the finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Permanent flexion of the finger") AnnotationAssertion( "Proximal interphalangeal finger joint contractures") AnnotationAssertion( "HP:0100490") AnnotationAssertion(rdfs:comment "Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified.") @@ -199587,8 +199580,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-14T10:58:11Z") AnnotationAssertion( "HP:0100239") AnnotationAssertion( "UMLS:C4020971") -AnnotationAssertion(Annotation( ) "Abnormality of lower limb joint") -AnnotationAssertion(Annotation( ) "Abnormality of the joints of the lower limbs") +AnnotationAssertion(Annotation( ) "Abnormality of lower limb joint") +AnnotationAssertion(Annotation( ) "Abnormality of the joints of the lower limbs") AnnotationAssertion( "HP:0100491") AnnotationAssertion(rdfs:label "Abnormality of lower limb joint") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199647,7 +199640,7 @@ SubClassOf( ) AnnotationAssertion( "2010-12-17T04:13:00Z") AnnotationAssertion( "UMLS:C4022040") -AnnotationAssertion(Annotation( ) "Abnormality of the vitamin B3 metabolism") +AnnotationAssertion(Annotation( ) "Abnormality of the vitamin B3 metabolism") AnnotationAssertion( "HP:0100496") AnnotationAssertion(rdfs:comment "Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients.") AnnotationAssertion(rdfs:label "Abnormality of the vitamin B3 metabolism") @@ -199661,7 +199654,7 @@ AnnotationAssertion( "SNOMEDCT_US:418186002") AnnotationAssertion( "SNOMEDCT_US:418279001") AnnotationAssertion( "UMLS:C0030783") -AnnotationAssertion(Annotation( ) "Vitamin B3 deficiency") +AnnotationAssertion(Annotation( ) "Vitamin B3 deficiency") AnnotationAssertion( "HP:0100497") AnnotationAssertion(rdfs:label "Vitamin B3 deficiency") SubClassOf( ) @@ -199714,7 +199707,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D014806") AnnotationAssertion( "SNOMEDCT_US:190634004") AnnotationAssertion( "UMLS:C0042847") -AnnotationAssertion(Annotation( ) "Vitamin B12 deficiency") +AnnotationAssertion(Annotation( ) "Vitamin B12 deficiency") AnnotationAssertion( "HP:0100502") AnnotationAssertion(rdfs:label "Vitamin B12 deficiency") SubClassOf( ) @@ -199728,7 +199721,7 @@ AnnotationAssertion( "SNOMEDCT_US:399357009") AnnotationAssertion( "UMLS:C0039841") AnnotationAssertion( "Reduced blood thiamine level") -AnnotationAssertion(Annotation( ) "Vitamin B1 deficiency") +AnnotationAssertion(Annotation( ) "Vitamin B1 deficiency") AnnotationAssertion( "HP:0100503") AnnotationAssertion(rdfs:label "Low levels of vitamin B1") SubClassOf( ) @@ -199742,7 +199735,7 @@ AnnotationAssertion( "SNOMEDCT_US:20307000") AnnotationAssertion( "UMLS:C0035528") AnnotationAssertion( "Riboflavin deficiency") -AnnotationAssertion(Annotation( ) "Vitamin B2 deficiency") +AnnotationAssertion(Annotation( ) "Vitamin B2 deficiency") AnnotationAssertion( "HP:0100504") AnnotationAssertion(rdfs:label "Low levels of vitamin B2") SubClassOf( ) @@ -199753,7 +199746,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2010-12-17T06:13:04Z") AnnotationAssertion( "UMLS:C4022038") -AnnotationAssertion(Annotation( ) "Vitamin B5 deficiency") +AnnotationAssertion(Annotation( ) "Vitamin B5 deficiency") AnnotationAssertion( "HP:0100505") AnnotationAssertion(rdfs:label "Low levels of vitamin B5") SubClassOf( ) @@ -199764,7 +199757,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2010-12-17T06:13:04Z") AnnotationAssertion( "UMLS:C4022037") -AnnotationAssertion(Annotation( ) "Vitamin B8 deficiency") +AnnotationAssertion(Annotation( ) "Vitamin B8 deficiency") AnnotationAssertion( "HP:0100506") AnnotationAssertion(rdfs:label "Low levels of vitamin B8") SubClassOf( ) @@ -199777,7 +199770,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D005494") AnnotationAssertion( "SNOMEDCT_US:190633005") AnnotationAssertion( "UMLS:C0016412") -AnnotationAssertion(Annotation( ) "Folate deficiency") +AnnotationAssertion(Annotation( ) "Folate deficiency") AnnotationAssertion( "Vitamin B9 deficiency") AnnotationAssertion( "HP:0100507") AnnotationAssertion(rdfs:label "Reduced blood folate concentration") @@ -199790,7 +199783,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-17T06:17:22Z") AnnotationAssertion( "UMLS:C4022036") -AnnotationAssertion(Annotation( ) "Abnormality of vitamin metabolism") +AnnotationAssertion(Annotation( ) "Abnormality of vitamin metabolism") AnnotationAssertion( "HP:0100508") AnnotationAssertion(rdfs:comment "Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes.") AnnotationAssertion(rdfs:label "Abnormality of vitamin metabolism") @@ -199802,7 +199795,7 @@ SubClassOf( ) AnnotationAssertion( "2010-12-17T06:18:32Z") AnnotationAssertion( "UMLS:C4021863") -AnnotationAssertion(Annotation( ) "Abnormality of vitamin C metabolism") +AnnotationAssertion(Annotation( ) "Abnormality of vitamin C metabolism") AnnotationAssertion( "HP:0100509") AnnotationAssertion(rdfs:label "Abnormality of vitamin C metabolism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199816,7 +199809,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001206") AnnotationAssertion( "SNOMEDCT_US:76169001") AnnotationAssertion( "UMLS:C0003969") -AnnotationAssertion(Annotation( ) "Vitamin C deficiency") +AnnotationAssertion(Annotation( ) "Vitamin C deficiency") AnnotationAssertion( "HP:0100510") AnnotationAssertion(rdfs:label "Low levels of vitamin C") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199827,7 +199820,7 @@ SubClassOf( ) AnnotationAssertion( "2010-12-17T06:19:15Z") AnnotationAssertion( "UMLS:C4022035") -AnnotationAssertion(Annotation( ) "Abnormality of vitamin D metabolism") +AnnotationAssertion(Annotation( ) "Abnormality of vitamin D metabolism") AnnotationAssertion( "HP:0100511") AnnotationAssertion(rdfs:label "Abnormality of vitamin D metabolism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199841,8 +199834,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D014808") AnnotationAssertion( "SNOMEDCT_US:34713006") AnnotationAssertion( "UMLS:C0042870") -AnnotationAssertion(Annotation( ) "Deficient in vitamin D") -AnnotationAssertion(Annotation( ) "Vitamin D deficiency") +AnnotationAssertion(Annotation( ) "Deficient in vitamin D") +AnnotationAssertion(Annotation( ) "Vitamin D deficiency") AnnotationAssertion( "HP:0100512") AnnotationAssertion(rdfs:label "Low levels of vitamin D") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199858,7 +199851,7 @@ AnnotationAssertion( "UMLS:C0042875") AnnotationAssertion(Annotation( ) Annotation( ) "Alpha-tocopherol deficiency") AnnotationAssertion( "Low levels of vitamin E") -AnnotationAssertion(Annotation( ) "Vitamin E deficiency") +AnnotationAssertion(Annotation( ) "Vitamin E deficiency") AnnotationAssertion( "HP:0100513") AnnotationAssertion(rdfs:label "Decreased circulating vitamin E concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -199880,11 +199873,11 @@ SubClassOf( ) "Increased frequency of urination.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T10:34:28Z") -AnnotationAssertion(Annotation( ) "Constant urination") +AnnotationAssertion(Annotation( ) "Constant urination") AnnotationAssertion( "SNOMEDCT_US:162116003") AnnotationAssertion( "SNOMEDCT_US:300471006") AnnotationAssertion( "UMLS:C0042023") -AnnotationAssertion(Annotation( ) "Frequent urination") +AnnotationAssertion(Annotation( ) "Frequent urination") AnnotationAssertion( "HP:0100515") AnnotationAssertion(rdfs:label "Pollakisuria") SubClassOf( ) @@ -199930,8 +199923,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D053159") AnnotationAssertion( "SNOMEDCT_US:49650001") AnnotationAssertion( "UMLS:C0013428") -AnnotationAssertion(Annotation( ) Annotation( ) "Painful or difficult urination") -AnnotationAssertion(Annotation( ) "Dull burning sensation with urination") +AnnotationAssertion(Annotation( ) Annotation( ) "Painful or difficult urination") +AnnotationAssertion(Annotation( ) "Dull burning sensation with urination") AnnotationAssertion( "HP:0100518") AnnotationAssertion(rdfs:label "Dysuria") SubClassOf( ) @@ -199944,7 +199937,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001002") AnnotationAssertion( "SNOMEDCT_US:2472002") AnnotationAssertion( "UMLS:C0003460") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent urine output") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent urine output") AnnotationAssertion( "HP:0100519") AnnotationAssertion(rdfs:label "Anuria") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200003,7 +199996,7 @@ AnnotationAssertion( "SNOMEDCT_US:27916005") AnnotationAssertion( "UMLS:C0023885") AnnotationAssertion( "Hepatic abscess") -AnnotationAssertion(Annotation( ) "Liver abscess") +AnnotationAssertion(Annotation( ) "Liver abscess") AnnotationAssertion( "HP:0100523") AnnotationAssertion(rdfs:label "Liver abscess") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -200018,7 +200011,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:34488005") AnnotationAssertion( "UMLS:C0265551") AnnotationAssertion( "Dimelia") -AnnotationAssertion(Annotation( ) "Limb duplication") +AnnotationAssertion(Annotation( ) "Limb duplication") AnnotationAssertion( "HP:0100524") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Limb duplication") @@ -200043,12 +200036,12 @@ SubClassOf( ) "Tumor of the lung.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T11:47:12Z") -AnnotationAssertion(Annotation( ) "Lung cancer") +AnnotationAssertion(Annotation( ) "Lung cancer") AnnotationAssertion( "MSH:D008175") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126713003") AnnotationAssertion( "UMLS:C0024121") -AnnotationAssertion(Annotation( ) "Lung tumor") +AnnotationAssertion(Annotation( ) "Lung tumor") AnnotationAssertion(Annotation( ) "Lung tumour") AnnotationAssertion( "HP:0100526") AnnotationAssertion(rdfs:label "Neoplasm of the lung") @@ -200112,7 +200105,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T12:43:09Z") AnnotationAssertion( "UMLS:C4022030") -AnnotationAssertion(Annotation( ) "Wind-swept deformity of the knees") +AnnotationAssertion(Annotation( ) "Wind-swept deformity of the knees") AnnotationAssertion( "HP:0100531") AnnotationAssertion(rdfs:label "Wind-swept deformity of the knees") SubClassOf( ) @@ -200123,7 +200116,7 @@ SubClassOf( ) "Inflammation of the sclera.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T03:50:04Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the outer white part of the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the outer white part of the eye") AnnotationAssertion( "MSH:D015423") AnnotationAssertion( "SNOMEDCT_US:78370002") AnnotationAssertion( "UMLS:C0036416") @@ -200141,7 +200134,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-20T03:53:42Z") AnnotationAssertion( "HP:0007891") AnnotationAssertion( "UMLS:C4020969") -AnnotationAssertion(Annotation( ) "Inflammatory abnormality of the eye") +AnnotationAssertion(Annotation( ) "Inflammatory abnormality of the eye") AnnotationAssertion( "Ocular inflammation") AnnotationAssertion( "HP:0100533") AnnotationAssertion(rdfs:label "Inflammatory abnormality of the eye") @@ -200157,7 +200150,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D015423") AnnotationAssertion( "SNOMEDCT_US:815008") AnnotationAssertion( "UMLS:C0014583") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the thin layer on top of the white part of eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the thin layer on top of the white part of eye") AnnotationAssertion( "HP:0100534") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera.") @@ -200194,7 +200187,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D005208") AnnotationAssertion( "SNOMEDCT_US:36948007") AnnotationAssertion( "UMLS:C0015645") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the fascia") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the fascia") AnnotationAssertion( "HP:0100537") AnnotationAssertion(rdfs:label "Fasciitis") EquivalentClasses(Annotation(dcterms:creator ) ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -200207,7 +200200,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T06:05:56Z") AnnotationAssertion( "UMLS:C4022027") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the brow of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the brow of the face") AnnotationAssertion(Annotation( ) "Deformity of the supraorbital margins") AnnotationAssertion(Annotation( ) "Deformity of the supraorbital ridges") AnnotationAssertion(Annotation( ) "Malformation of the supraorbital margins") @@ -200246,12 +200239,12 @@ AnnotationAssertion( "Edema of the eyelids") AnnotationAssertion( "Eyelid edema") AnnotationAssertion(Annotation( ) "Eyelid oedema") -AnnotationAssertion(Annotation( ) Annotation( ) "Fullness of eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Fullness of eyelids") AnnotationAssertion(Annotation( ) "Oedema of the eyelids") AnnotationAssertion(Annotation( ) "Palpebral oedema") -AnnotationAssertion(Annotation( ) "Puffy eyelids") -AnnotationAssertion(Annotation( ) "Puffy lids") -AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of eyelids") +AnnotationAssertion(Annotation( ) "Puffy eyelids") +AnnotationAssertion(Annotation( ) "Puffy lids") +AnnotationAssertion(Annotation( ) Annotation( ) "Swelling of eyelids") AnnotationAssertion( "HP:0100540") AnnotationAssertion(rdfs:label "Palpebral edema") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200280,7 +200273,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T06:43:50Z") AnnotationAssertion( "UMLS:C4020968") -AnnotationAssertion(Annotation( ) "Abnormal localisation of kidneys") +AnnotationAssertion(Annotation( ) "Abnormal localisation of kidneys") AnnotationAssertion( "HP:0100542") AnnotationAssertion(rdfs:label "Abnormal localization of kidney") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200303,12 +200296,12 @@ AnnotationAssertion( "SNOMEDCT_US:386806002") AnnotationAssertion( "UMLS:C0338656") AnnotationAssertion( "UMLS:C0683322") -AnnotationAssertion(Annotation( ) "Abnormality of cognition") -AnnotationAssertion(Annotation( ) "Cognitive abnormality") -AnnotationAssertion(Annotation( ) "Cognitive defects") -AnnotationAssertion(Annotation( ) "Cognitive deficits") -AnnotationAssertion(Annotation( ) "Cognitive impairment") -AnnotationAssertion(Annotation( ) "Intellectual impairment") +AnnotationAssertion(Annotation( ) "Abnormality of cognition") +AnnotationAssertion(Annotation( ) "Cognitive abnormality") +AnnotationAssertion(Annotation( ) "Cognitive defects") +AnnotationAssertion(Annotation( ) "Cognitive deficits") +AnnotationAssertion(Annotation( ) "Cognitive impairment") +AnnotationAssertion(Annotation( ) "Intellectual impairment") AnnotationAssertion( "HP:0100543") AnnotationAssertion(rdfs:comment "An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions.") AnnotationAssertion(rdfs:label "Cognitive impairment") @@ -200325,7 +200318,7 @@ AnnotationAssertion( "SNOMEDCT_US:387842002") AnnotationAssertion( "UMLS:C0018809") AnnotationAssertion( "Cardiac neoplasm") -AnnotationAssertion(Annotation( ) Annotation( ) "Heart tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Heart tumor") AnnotationAssertion(Annotation( ) "Heart tumour") AnnotationAssertion( "Cardiac neoplasia") AnnotationAssertion( "HP:0100544") @@ -200340,7 +200333,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T01:30:07Z") AnnotationAssertion( "SNOMEDCT_US:68109007") AnnotationAssertion( "UMLS:C0038449") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of an artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of an artery") AnnotationAssertion( "HP:0100545") AnnotationAssertion(rdfs:label "Arterial stenosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200355,7 +200348,7 @@ AnnotationAssertion( "SNOMEDCT_US:64586002") AnnotationAssertion( "UMLS:C0007282") AnnotationAssertion( "Carotid stenosis") -AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of carotid artery") +AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of carotid artery") AnnotationAssertion( "HP:0100546") AnnotationAssertion(rdfs:comment "Carotid artery stenosis is usually caused by caused by atherosclerosis.") AnnotationAssertion(rdfs:label "Carotid artery stenosis") @@ -200368,7 +200361,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-21T02:12:53Z") AnnotationAssertion( "UMLS:C4020967") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of forebrain") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of forebrain") AnnotationAssertion( "Abnormality of forebrain morphology") AnnotationAssertion( "Abnormality of the forebrain") AnnotationAssertion( "HP:0100547") @@ -200394,9 +200387,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T02:58:13Z") AnnotationAssertion( "SNOMEDCT_US:415749005") AnnotationAssertion( "UMLS:C0151937") -AnnotationAssertion(Annotation( ) "Rupture of tendons") -AnnotationAssertion(Annotation( ) "Ruptured tendon") -AnnotationAssertion(Annotation( ) "Tendon rupture") +AnnotationAssertion(Annotation( ) "Rupture of tendons") +AnnotationAssertion(Annotation( ) "Ruptured tendon") +AnnotationAssertion(Annotation( ) "Tendon rupture") AnnotationAssertion( "Tendon/muscle rupture") AnnotationAssertion( "HP:0100550") AnnotationAssertion(rdfs:comment "Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon.") @@ -200437,7 +200430,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T03:58:40Z") AnnotationAssertion( "SNOMEDCT_US:205369009") AnnotationAssertion( "UMLS:C0431928") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of one leg") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of one leg") AnnotationAssertion( "HP:0100553") AnnotationAssertion(rdfs:label "Hemihypertrophy of lower limb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200452,7 +200445,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T03:58:55Z") AnnotationAssertion( "SNOMEDCT_US:253920006") AnnotationAssertion( "UMLS:C0431810") -AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of one arm") +AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of one arm") AnnotationAssertion( "HP:0100554") AnnotationAssertion(rdfs:label "Hemihypertrophy of upper limb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200466,7 +200459,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-21T04:00:12Z") AnnotationAssertion( "UMLS:C4022025") -AnnotationAssertion(Annotation( ) Annotation( ) "Uneven or disproportionate growth of one body part compared to another") +AnnotationAssertion(Annotation( ) Annotation( ) "Uneven or disproportionate growth of one body part compared to another") AnnotationAssertion( "HP:0100555") AnnotationAssertion(rdfs:label "Asymmetric growth") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200481,7 +200474,7 @@ AnnotationAssertion( "HP:0200051") AnnotationAssertion( "SNOMEDCT_US:34087007") AnnotationAssertion( "UMLS:C0333662") -AnnotationAssertion(Annotation( ) "Asymmetric limb shortening") +AnnotationAssertion(Annotation( ) "Asymmetric limb shortening") AnnotationAssertion( "Hemiatrophy of the body") AnnotationAssertion( "HP:0100556") AnnotationAssertion(rdfs:label "Hemiatrophy") @@ -200496,7 +200489,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T04:01:28Z") AnnotationAssertion( "SNOMEDCT_US:709411004") AnnotationAssertion( "UMLS:C0431934") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetric lower limb shortening") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetric lower limb shortening") AnnotationAssertion( "HP:0100557") AnnotationAssertion(rdfs:label "Hemiatrophy of lower limb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200511,7 +200504,7 @@ AnnotationAssertion( AnnotationAssertion( "HP:0200052") AnnotationAssertion( "SNOMEDCT_US:253921005") AnnotationAssertion( "UMLS:C0431814") -AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetric upper limb shortening") +AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetric upper limb shortening") AnnotationAssertion( "Hemihypotrophy of upper limb") AnnotationAssertion( "HP:0100558") AnnotationAssertion(rdfs:label "Hemiatrophy of upper limb") @@ -200527,8 +200520,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D007870") AnnotationAssertion( "SNOMEDCT_US:45939007") AnnotationAssertion( "UMLS:C0023221") -AnnotationAssertion(Annotation( ) Annotation( ) "Left and right leg differ in length or width") -AnnotationAssertion(Annotation( ) "Leg length discrepancy") +AnnotationAssertion(Annotation( ) Annotation( ) "Left and right leg differ in length or width") +AnnotationAssertion(Annotation( ) "Leg length discrepancy") AnnotationAssertion( "HP:0100559") AnnotationAssertion(rdfs:label "Lower limb asymmetry") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -200541,7 +200534,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-21T04:04:56Z") AnnotationAssertion( "UMLS:C4022024") -AnnotationAssertion(Annotation( ) Annotation( ) "Unequal size of arms") +AnnotationAssertion(Annotation( ) Annotation( ) "Unequal size of arms") AnnotationAssertion( "HP:0100560") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Upper limb asymmetry") @@ -200565,7 +200558,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T04:35:22Z") AnnotationAssertion( "SNOMEDCT_US:360527003") AnnotationAssertion( "UMLS:C1260890") -AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Duplication of spinal cord") AnnotationAssertion( "HP:0100562") AnnotationAssertion(rdfs:label "Diplomyelia") SubClassOf( ) @@ -200586,7 +200579,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-21T04:35:22Z") AnnotationAssertion( "UMLS:C4022022") -AnnotationAssertion(Annotation( ) Annotation( ) "Triplication of spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Triplication of spinal cord") AnnotationAssertion( "HP:0100564") AnnotationAssertion(rdfs:label "Triplomyelia") SubClassOf( ) @@ -200610,7 +200603,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-21T04:41:35Z") AnnotationAssertion( "SNOMEDCT_US:78784005") AnnotationAssertion( "UMLS:C0266510") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent spinal cord") AnnotationAssertion( "HP:0100566") AnnotationAssertion(rdfs:label "Amyelia") SubClassOf( ) @@ -200637,7 +200630,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-21T04:50:43Z") AnnotationAssertion( "UMLS:C4020966") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal bone maturation of vertebra") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal bone maturation of vertebra") AnnotationAssertion( "Abnormal vertebral ossification") AnnotationAssertion( "Abnormality of ossification/mineralisation of vertebrae") AnnotationAssertion( "HP:0100569") @@ -200750,7 +200743,7 @@ AnnotationAssertion( "SNOMEDCT_US:38822007") AnnotationAssertion( "UMLS:C0010692") AnnotationAssertion( "Cystitis of the urinary bladder") -AnnotationAssertion(Annotation( ) "Urinary bladder inflammation") +AnnotationAssertion(Annotation( ) "Urinary bladder inflammation") AnnotationAssertion( "HP:0100577") AnnotationAssertion(rdfs:label "Urinary bladder inflammation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -200767,7 +200760,7 @@ AnnotationAssertion( "UMLS:C1280433") AnnotationAssertion(Annotation( ) Annotation( ) "Atrophy of fat") AnnotationAssertion(Annotation( ) "Loss of fat tissue in localised area") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Loss of fat tissue in localized area") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Loss of fat tissue in localized area") AnnotationAssertion( "HP:0100578") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs.") @@ -200997,7 +200990,7 @@ AnnotationAssertion( "UMLS:C4020963") AnnotationAssertion( "Abouphalia") AnnotationAssertion( "Aplasia of the nares") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing nostrils") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing nostrils") AnnotationAssertion( "Aplasia/Hypoplasia of the nares") AnnotationAssertion( "HP:0100596") AnnotationAssertion(rdfs:label "Absent nares") @@ -201012,11 +201005,11 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D011654") AnnotationAssertion( "SNOMEDCT_US:19242006") AnnotationAssertion( "UMLS:C0034063") -AnnotationAssertion(Annotation( ) Annotation( ) "Excess fluid in lungs") +AnnotationAssertion(Annotation( ) Annotation( ) "Excess fluid in lungs") AnnotationAssertion( "Lung edema") AnnotationAssertion(Annotation( ) "Lung oedema") AnnotationAssertion( "Pulmonary oedema") -AnnotationAssertion(Annotation( ) Annotation( ) "Wet lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Wet lung") AnnotationAssertion( "HP:0100598") AnnotationAssertion(rdfs:label "Pulmonary edema") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -201031,7 +201024,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:253851000") AnnotationAssertion( "UMLS:C0345322") AnnotationAssertion( "Diphallia") -AnnotationAssertion(Annotation( ) "Penile duplication") +AnnotationAssertion(Annotation( ) "Penile duplication") AnnotationAssertion( "HP:0100599") AnnotationAssertion(rdfs:comment "In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation.") AnnotationAssertion(rdfs:label "Bifid penis") @@ -201102,10 +201095,10 @@ AnnotationAssertion( "SNOMEDCT_US:126770008") AnnotationAssertion( "UMLS:C0023761") AnnotationAssertion( "UMLS:C4020706") -AnnotationAssertion(Annotation( ) Annotation( ) "Lip tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Lip tumor") AnnotationAssertion(Annotation( ) "Lip tumour") AnnotationAssertion( "Neoplasia of the lip") -AnnotationAssertion(Annotation( ) "Tumor of the lip") +AnnotationAssertion(Annotation( ) "Tumor of the lip") AnnotationAssertion(Annotation( ) "Tumour of the lip") AnnotationAssertion( "HP:0100604") AnnotationAssertion(rdfs:label "Neoplasm of the lip") @@ -201135,7 +201128,7 @@ AnnotationAssertion( "SNOMEDCT_US:126667002") AnnotationAssertion( "SNOMEDCT_US:448708002") AnnotationAssertion( "UMLS:C0035244") -AnnotationAssertion(Annotation( ) Annotation( ) "Respiratory system tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Respiratory system tumor") AnnotationAssertion(Annotation( ) "Respiratory system tumour") AnnotationAssertion( "HP:0100606") AnnotationAssertion(rdfs:label "Neoplasm of the respiratory system") @@ -201152,7 +201145,7 @@ AnnotationAssertion( "SNOMEDCT_US:289900009") AnnotationAssertion( "SNOMEDCT_US:431416001") AnnotationAssertion( "UMLS:C0013390") -AnnotationAssertion(Annotation( ) Annotation( ) "Painful menstruation") +AnnotationAssertion(Annotation( ) Annotation( ) "Painful menstruation") AnnotationAssertion( "HP:0100607") AnnotationAssertion(rdfs:label "Dysmenorrhea") SubClassOf( ) @@ -201167,7 +201160,7 @@ AnnotationAssertion( "SNOMEDCT_US:237130006") AnnotationAssertion( "SNOMEDCT_US:64996003") AnnotationAssertion( "UMLS:C0025874") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal uterus bleeding") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal uterus bleeding") AnnotationAssertion(Annotation( ) Annotation( "PMID:28499529") "Intermenstrual bleeding") AnnotationAssertion(Annotation( ) Annotation( "PMID:28499529") "Menstrual spotting") AnnotationAssertion( "HP:0100608") @@ -201187,7 +201180,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-27T06:17:13Z") AnnotationAssertion( "UMLS:C4022014") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood phenylalanine level in mother") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood phenylalanine level in mother") AnnotationAssertion( "HP:0100610") AnnotationAssertion(rdfs:label "Maternal hyperphenylalaninemia") SubClassOf( ) @@ -201231,7 +201224,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-28T11:12:21Z") AnnotationAssertion( "UMLS:C4022012") -AnnotationAssertion(Annotation( ) "Death in early adulthood") +AnnotationAssertion(Annotation( ) "Death in early adulthood") AnnotationAssertion( "HP:0100613") AnnotationAssertion(rdfs:label "Death in early adulthood") SubClassOf( ) @@ -201245,7 +201238,7 @@ AnnotationAssertion( "SNOMEDCT_US:128496001") AnnotationAssertion( "SNOMEDCT_US:26889001") AnnotationAssertion( "UMLS:C0027121") -AnnotationAssertion(Annotation( ) Annotation( ) "Muscle inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Muscle inflammation") AnnotationAssertion( "HP:0100614") AnnotationAssertion(rdfs:comment "Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis.") AnnotationAssertion(rdfs:label "Myositis") @@ -201258,14 +201251,14 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the ovary.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:37:01Z") -AnnotationAssertion(Annotation( ) "Ovarian cancer") +AnnotationAssertion(Annotation( ) "Ovarian cancer") AnnotationAssertion( "MSH:D010051") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:123843001") AnnotationAssertion( "UMLS:C0919267") AnnotationAssertion( "Neoplasm of the ovaries") AnnotationAssertion( "Neoplasm of the ovary") -AnnotationAssertion(Annotation( ) Annotation( ) "Ovarian tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Ovarian tumor") AnnotationAssertion(Annotation( ) "Ovarian tumour") AnnotationAssertion( "Ovarian neoplasia") AnnotationAssertion( "HP:0100615") @@ -201391,7 +201384,7 @@ SubClassOf( ) AnnotationAssertion( "2010-12-28T04:14:55Z") AnnotationAssertion( "UMLS:C4020962") -AnnotationAssertion(Annotation( ) "Wide rib cage") +AnnotationAssertion(Annotation( ) "Wide rib cage") AnnotationAssertion( "Wide thorax") AnnotationAssertion( "HP:0100625") AnnotationAssertion(rdfs:label "Enlarged thorax") @@ -201405,7 +201398,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D058625") AnnotationAssertion( "SNOMEDCT_US:235886005") AnnotationAssertion( "UMLS:C2936476") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic liver failure") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic liver failure") AnnotationAssertion( "HP:0100626") AnnotationAssertion(rdfs:label "Chronic hepatic failure") SubClassOf( ) @@ -201446,7 +201439,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-29T02:23:01Z") AnnotationAssertion( "UMLS:C4022007") -AnnotationAssertion(Annotation( ) "Midline facial cleft") +AnnotationAssertion(Annotation( ) "Midline facial cleft") AnnotationAssertion( "HP:0100629") AnnotationAssertion(rdfs:comment "Midline facial clefts correspond to Tessier number 0,14, and 30.") AnnotationAssertion(rdfs:label "Midline facial cleft") @@ -201507,7 +201500,7 @@ AnnotationAssertion(Annotation(rdfs:label "Oesophagitis") "MSH:D004941") AnnotationAssertion( "SNOMEDCT_US:16761005") AnnotationAssertion( "UMLS:C0014868") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the esophagus") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the esophagus") AnnotationAssertion(Annotation( ) "Inflammation of the oesophagus") AnnotationAssertion( "Oesophagitis") AnnotationAssertion( "HP:0100633") @@ -201585,8 +201578,8 @@ SubClassOf( "PMID:27188339") "A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T05:45:28Z") -AnnotationAssertion(Annotation( ) "Abnormal erection") -AnnotationAssertion(Annotation( ) "Erectile abnormalities") +AnnotationAssertion(Annotation( ) "Abnormal erection") +AnnotationAssertion(Annotation( ) "Erectile abnormalities") AnnotationAssertion( "HP:0100639") AnnotationAssertion(rdfs:label "Erectile dysfunction") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -201638,8 +201631,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-29T05:59:15Z") AnnotationAssertion( "UMLS:C4020960") -AnnotationAssertion(Annotation( ) "Abnormality of nail color") -AnnotationAssertion(Annotation( ) "Abnormality of nail colour") +AnnotationAssertion(Annotation( ) "Abnormality of nail color") +AnnotationAssertion(Annotation( ) "Abnormality of nail colour") AnnotationAssertion( "Nail dyschromia") AnnotationAssertion( "HP:0100643") AnnotationAssertion(rdfs:label "Abnormality of nail color") @@ -201666,9 +201659,9 @@ AnnotationAssertion( AnnotationAssertion( "ICD-9:618.00") AnnotationAssertion( "SNOMEDCT_US:252005008") AnnotationAssertion( "UMLS:C1394494") -AnnotationAssertion(Annotation( ) "Bladder hernia") +AnnotationAssertion(Annotation( ) "Bladder hernia") AnnotationAssertion( "Bladder prolapse") -AnnotationAssertion(Annotation( ) "Dropped bladder") +AnnotationAssertion(Annotation( ) "Dropped bladder") AnnotationAssertion( "Prolapsed bladder") AnnotationAssertion( "HP:0100645") AnnotationAssertion(rdfs:comment "Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall.") @@ -201685,7 +201678,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D013966") AnnotationAssertion( "SNOMEDCT_US:82119001") AnnotationAssertion( "UMLS:C0040147") -AnnotationAssertion(Annotation( ) Annotation( ) "Thyroid gland inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Thyroid gland inflammation") AnnotationAssertion( "HP:0100646") AnnotationAssertion(rdfs:label "Thyroiditis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -201736,10 +201729,10 @@ AnnotationAssertion( "UMLS:C0149744") AnnotationAssertion( "UMLS:C4280289") AnnotationAssertion( "Mouth neoplasm") -AnnotationAssertion(Annotation( ) "Mouth tumor") +AnnotationAssertion(Annotation( ) "Mouth tumor") AnnotationAssertion(Annotation( ) "Mouth tumour") AnnotationAssertion( "Neoplasm of the mouth") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of oral cavity") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of oral cavity") AnnotationAssertion(Annotation( ) "Tumour of oral cavity") AnnotationAssertion( "HP:0100649") AnnotationAssertion(rdfs:label "Neoplasm of the oral cavity") @@ -201756,7 +201749,7 @@ AnnotationAssertion( "SNOMEDCT_US:126921000") AnnotationAssertion( "UMLS:C0042258") AnnotationAssertion( "UMLS:C0750081") -AnnotationAssertion(Annotation( ) Annotation( ) "Vaginal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Vaginal tumor") AnnotationAssertion(Annotation( ) "Vaginal tumour") AnnotationAssertion( "Vaginal neoplasia") AnnotationAssertion( "HP:0100650") @@ -201774,8 +201767,8 @@ AnnotationAssertion( "UMLS:C0011854") AnnotationAssertion( "Diabetes mellitus Type I") AnnotationAssertion( "Juvenile diabetes mellitus") -AnnotationAssertion(Annotation( ) "Type 1 diabetes") -AnnotationAssertion(Annotation( ) "Type I diabetes") +AnnotationAssertion(Annotation( ) "Type 1 diabetes") +AnnotationAssertion(Annotation( ) "Type I diabetes") AnnotationAssertion(Annotation( ) "Insulin-dependent diabetes mellitus") AnnotationAssertion( "HP:0100651") AnnotationAssertion(rdfs:comment "The onset of type 1 diabetes is typically during adolescence, but it can develop at any age.") @@ -201849,8 +201842,8 @@ AnnotationAssertion( "SNOMEDCT_US:385627004") AnnotationAssertion( "UMLS:C0007642") AnnotationAssertion( "UMLS:C0162627") -AnnotationAssertion(Annotation( ) Annotation( ) "Bacterial infection of skin") -AnnotationAssertion(Annotation( ) "Skin infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Bacterial infection of skin") +AnnotationAssertion(Annotation( ) "Skin infection") AnnotationAssertion( "Skin infections") AnnotationAssertion( "HP:0100658") AnnotationAssertion( ) @@ -201864,7 +201857,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-30T11:39:15Z") AnnotationAssertion( "UMLS:C4022001") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the cerebral blood vessels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the cerebral blood vessels") AnnotationAssertion( "Abnormality of the cerebral vasculature") AnnotationAssertion( "HP:0100659") AnnotationAssertion(rdfs:label "Abnormal cerebral vascular morphology") @@ -201880,7 +201873,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D020820") AnnotationAssertion( "SNOMEDCT_US:9748009") AnnotationAssertion( "UMLS:C0013384") -AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of involuntary muscle movements") +AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of involuntary muscle movements") AnnotationAssertion( "Dyskinesis") AnnotationAssertion(Annotation( ) "Dyskinesias") AnnotationAssertion( "HP:0100660") @@ -201908,7 +201901,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-30T12:57:50Z") AnnotationAssertion( "SNOMEDCT_US:46176001") AnnotationAssertion( "UMLS:C0008439") -AnnotationAssertion(Annotation( ) "Cartilage inflammation") +AnnotationAssertion(Annotation( ) "Cartilage inflammation") AnnotationAssertion( "HP:0100662") AnnotationAssertion(rdfs:label "Chondritis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -201954,8 +201947,8 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:3845008") AnnotationAssertion( "UMLS:C0266166") AnnotationAssertion( "UMLS:C4020702") -AnnotationAssertion(Annotation( ) "Bowel duplication") -AnnotationAssertion(Annotation( ) "Gut duplication") +AnnotationAssertion(Annotation( ) "Bowel duplication") +AnnotationAssertion(Annotation( ) "Gut duplication") AnnotationAssertion( "HP:0100668") AnnotationAssertion(rdfs:label "Intestinal duplication") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -201967,7 +201960,7 @@ SubClassOf( ) "An abnormality of the pigmentation of the mucosa of the mouth.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T01:25:45Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal color of the oral mucosa") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal color of the oral mucosa") AnnotationAssertion(Annotation( ) "Abnormal colour of the oral mucosa") AnnotationAssertion( "UMLS:C4020959") AnnotationAssertion( "Abnormal pigmentation of oral cavity") @@ -202085,8 +202078,8 @@ AnnotationAssertion(Annotation(rdfs:label "Skin wrinkling") "MSH:D015595") AnnotationAssertion( "SNOMEDCT_US:247434009") AnnotationAssertion( "UMLS:C0037301") -AnnotationAssertion(Annotation( ) "Premature skin wrinkling") -AnnotationAssertion(Annotation( ) "Wrinkled skin") +AnnotationAssertion(Annotation( ) "Premature skin wrinkling") +AnnotationAssertion(Annotation( ) "Wrinkled skin") AnnotationAssertion( "HP:0100678") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Premature skin wrinkling") @@ -202099,7 +202092,7 @@ AnnotationAssertion( AnnotationAssertion( "SNOMEDCT_US:297957009") AnnotationAssertion( "UMLS:C0558242") AnnotationAssertion( "UMLS:C4021998") -AnnotationAssertion(Annotation( ) "Tight skin") +AnnotationAssertion(Annotation( ) "Tight skin") AnnotationAssertion( "HP:0100679") AnnotationAssertion(rdfs:label "Lack of skin elasticity") SubClassOf( ) @@ -202143,9 +202136,9 @@ AnnotationAssertion( "UMLS:C0036095") AnnotationAssertion( "UMLS:C0220636") AnnotationAssertion( "Salivary gland neoplasia") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of salivary gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of salivary gland") AnnotationAssertion(Annotation( ) "Tumour of salivary gland") -AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of salivary gland") +AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of salivary gland") AnnotationAssertion( "HP:0100684") AnnotationAssertion(rdfs:label "Salivary gland neoplasm") SubClassOf( ) @@ -202196,7 +202189,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-02-18T04:40:41Z") AnnotationAssertion( "SNOMEDCT_US:423459005") AnnotationAssertion( "UMLS:C1096274") -AnnotationAssertion(Annotation( ) "Thin cornea") +AnnotationAssertion(Annotation( ) "Thin cornea") AnnotationAssertion( "HP:0100689") AnnotationAssertion(rdfs:label "Decreased corneal thickness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -202311,8 +202304,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D002921") AnnotationAssertion( "SNOMEDCT_US:48677004") AnnotationAssertion( "UMLS:C0008767") -AnnotationAssertion(Annotation( ) "Scarring") -AnnotationAssertion(Annotation( ) "Scar tissue") +AnnotationAssertion(Annotation( ) "Scarring") +AnnotationAssertion(Annotation( ) "Scar tissue") AnnotationAssertion( "HP:0100699") AnnotationAssertion(rdfs:label "Scarring") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -202351,7 +202344,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D016080") AnnotationAssertion( "SNOMEDCT_US:33595009") AnnotationAssertion( "UMLS:C0078981") -AnnotationAssertion(Annotation( ) Annotation( ) "Fluid-filled sac located in membrane surrounding brain or spinal cord") +AnnotationAssertion(Annotation( ) Annotation( ) "Fluid-filled sac located in membrane surrounding brain or spinal cord") AnnotationAssertion(Annotation( ) "Arachnoid cysts") AnnotationAssertion( "HP:0100702") AnnotationAssertion(rdfs:comment "Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural.") @@ -202468,8 +202461,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-04-07T05:36:16Z") AnnotationAssertion( "MSH:D007175") AnnotationAssertion( "UMLS:C0021125") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impulsive") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impulsivity") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impulsive") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impulsivity") AnnotationAssertion( "HP:0100710") AnnotationAssertion(rdfs:label "Impulsivity") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -202511,9 +202504,9 @@ AnnotationAssertion( "Autoagression") AnnotationAssertion( "Self injury") AnnotationAssertion( "Self-harm") -AnnotationAssertion(Annotation( ) "Self-injurious behavior") -AnnotationAssertion(Annotation( ) "Self-injurious behaviour") -AnnotationAssertion(Annotation( ) Annotation( ) "Self-injurious behaviors") +AnnotationAssertion(Annotation( ) "Self-injurious behavior") +AnnotationAssertion(Annotation( ) "Self-injurious behaviour") +AnnotationAssertion(Annotation( ) Annotation( ) "Self-injurious behaviors") AnnotationAssertion(Annotation( ) "Self-injurious behaviours") AnnotationAssertion( "HP:0100716") AnnotationAssertion(rdfs:label "Self-injurious behavior") @@ -202562,7 +202555,7 @@ SubClassOf( ) AnnotationAssertion( "2011-06-06T02:17:54Z") AnnotationAssertion( "UMLS:C4021986") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped ear cartilage") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped ear cartilage") AnnotationAssertion( "HP:0100720") AnnotationAssertion(rdfs:label "Hypoplasia of the ear cartilage") SubClassOf( ) @@ -202574,7 +202567,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-06T02:26:55Z") AnnotationAssertion( "SNOMEDCT_US:52324001") AnnotationAssertion( "UMLS:C0520743") -AnnotationAssertion(Annotation( ) Annotation( ) "Swollen lymph nodes in center of chest") +AnnotationAssertion(Annotation( ) Annotation( ) "Swollen lymph nodes in center of chest") AnnotationAssertion(Annotation( ) "Swollen lymph nodes in centre of chest") AnnotationAssertion( "HP:0100721") AnnotationAssertion(rdfs:label "Mediastinal lymphadenopathy") @@ -202669,8 +202662,8 @@ SubClassOf( ) AnnotationAssertion( "2011-06-06T04:50:47Z") AnnotationAssertion( "UMLS:C2748652") -AnnotationAssertion(Annotation( ) Annotation( ) "Big face") -AnnotationAssertion(Annotation( ) "Large face") +AnnotationAssertion(Annotation( ) Annotation( ) "Big face") +AnnotationAssertion(Annotation( ) "Large face") AnnotationAssertion(Annotation( ) "Large facies") AnnotationAssertion( "HP:0100729") AnnotationAssertion(rdfs:label "Large face") @@ -202735,7 +202728,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2011-06-06T05:13:08Z") AnnotationAssertion( "UMLS:C4020953") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the end part of the vertebra bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the end part of the vertebra bone") AnnotationAssertion( "Abnormality of the vertebral epiphyses") AnnotationAssertion( "HP:0100734") AnnotationAssertion(rdfs:label "Abnormality of vertebral epiphysis morphology") @@ -202786,7 +202779,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2011-06-06T05:54:51Z") AnnotationAssertion( "UMLS:C4021982") -AnnotationAssertion(Annotation( ) "Abnormal eating behavior") +AnnotationAssertion(Annotation( ) "Abnormal eating behavior") AnnotationAssertion(Annotation( ) "Abnormal eating behaviour") AnnotationAssertion( "HP:0100738") AnnotationAssertion(rdfs:comment "Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors.") @@ -202802,7 +202795,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D002032") AnnotationAssertion( "SNOMEDCT_US:78004001") AnnotationAssertion( "UMLS:C0006370") -AnnotationAssertion(Annotation( ) Annotation( ) "Binge and purge") +AnnotationAssertion(Annotation( ) Annotation( ) "Binge and purge") AnnotationAssertion( "HP:0100739") AnnotationAssertion(rdfs:label "Bulimia") SubClassOf( ) @@ -202820,7 +202813,7 @@ AnnotationAssertion( "SNOMEDCT_US:699605009") AnnotationAssertion( "UMLS:C0027668") AnnotationAssertion( "UMLS:C0282607") -AnnotationAssertion(Annotation( ) Annotation( ) "Blood vessel tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Blood vessel tumor") AnnotationAssertion(Annotation( ) "Blood vessel tumour") AnnotationAssertion( "HP:0100742") AnnotationAssertion(rdfs:label "Vascular neoplasm") @@ -202835,7 +202828,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126847008") AnnotationAssertion( "UMLS:C0034885") -AnnotationAssertion(Annotation( ) Annotation( ) "Rectal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Rectal tumor") AnnotationAssertion(Annotation( ) "Rectal tumour") AnnotationAssertion( "HP:0100743") AnnotationAssertion(rdfs:label "Neoplasm of the rectum") @@ -202910,7 +202903,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D002637") AnnotationAssertion( "SNOMEDCT_US:29857009") AnnotationAssertion( "UMLS:C0008031") -AnnotationAssertion(Annotation( ) "Chest pain") +AnnotationAssertion(Annotation( ) "Chest pain") AnnotationAssertion( "Thoracic pain") AnnotationAssertion( "Chest discomfort") AnnotationAssertion( "HP:0100749") @@ -202925,7 +202918,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001261") AnnotationAssertion( "SNOMEDCT_US:46621007") AnnotationAssertion( "UMLS:C0004144") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial or complete collapse of part or entire lung") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial or complete collapse of part or entire lung") AnnotationAssertion( "Pulmonary atelectasis") AnnotationAssertion( "HP:0100750") AnnotationAssertion(rdfs:label "Atelectasis") @@ -202940,7 +202933,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126817006") AnnotationAssertion( "UMLS:C0014859") -AnnotationAssertion(Annotation( ) Annotation( ) "Esophageal tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Esophageal tumor") AnnotationAssertion(Annotation( ) "Esophageal tumour") AnnotationAssertion( "HP:0100751") AnnotationAssertion(rdfs:label "Esophageal neoplasm") @@ -202984,7 +202977,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D001714") AnnotationAssertion( "SNOMEDCT_US:231494001") AnnotationAssertion( "UMLS:C0338831") -AnnotationAssertion(Annotation( ) "Manic") +AnnotationAssertion(Annotation( ) "Manic") AnnotationAssertion( "HP:0100754") AnnotationAssertion(rdfs:label "Mania") SubClassOf( ) @@ -202994,8 +202987,8 @@ SubClassOf( ) AnnotationAssertion( "2011-06-07T10:01:04Z") AnnotationAssertion( "UMLS:C4021978") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal spit") -AnnotationAssertion(Annotation( ) "Abnormality of salivation") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal spit") +AnnotationAssertion(Annotation( ) "Abnormality of salivation") AnnotationAssertion( "HP:0100755") AnnotationAssertion(rdfs:label "Abnormality of salivation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -203022,7 +203015,7 @@ AnnotationAssertion( "SNOMEDCT_US:36024000") AnnotationAssertion( "SNOMEDCT_US:372070002") AnnotationAssertion( "UMLS:C0017086") -AnnotationAssertion(Annotation( ) Annotation( ) "Death of body tissue due to lack of blood flow or infection") +AnnotationAssertion(Annotation( ) Annotation( ) "Death of body tissue due to lack of blood flow or infection") AnnotationAssertion( "HP:0100758") AnnotationAssertion(rdfs:comment "This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy.") AnnotationAssertion(rdfs:label "Gangrene") @@ -203037,10 +203030,10 @@ AnnotationAssertion(Annotation(rdfs:label "Finger clubbing") "MSH:D010005") AnnotationAssertion( "SNOMEDCT_US:30760008") AnnotationAssertion( "UMLS:C0009080") -AnnotationAssertion(Annotation( ) "Clubbed fingers") -AnnotationAssertion(Annotation( ) "Clubbing (hands)") -AnnotationAssertion(Annotation( ) "Clubbing of fingers") -AnnotationAssertion(Annotation( ) "Finger clubbing") +AnnotationAssertion(Annotation( ) "Clubbed fingers") +AnnotationAssertion(Annotation( ) "Clubbing (hands)") +AnnotationAssertion(Annotation( ) "Clubbing of fingers") +AnnotationAssertion(Annotation( ) "Finger clubbing") AnnotationAssertion( "HP:0100759") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Clubbing of fingers") @@ -203058,7 +203051,7 @@ AnnotationAssertion( "SNOMEDCT_US:53148007") AnnotationAssertion( "UMLS:C0009081") AnnotationAssertion( "UMLS:C3887489") -AnnotationAssertion(Annotation( ) "Clubbed toes") +AnnotationAssertion(Annotation( ) "Clubbed toes") AnnotationAssertion( "HP:0100760") AnnotationAssertion(rdfs:label "Clubbing of toes") SubClassOf( ) @@ -203155,7 +203148,7 @@ AnnotationAssertion( "SNOMEDCT_US:33552005") AnnotationAssertion( "UMLS:C1306893") AnnotationAssertion( "Abnormality of the placenta") -AnnotationAssertion(Annotation( ) "Placental issue") +AnnotationAssertion(Annotation( ) "Placental issue") AnnotationAssertion( "HP:0100767") AnnotationAssertion(rdfs:comment "The placenta is a fetomaternal organ. The fetal portion of the placenta is the villous chorion and the maternal portion is the decidua basalis. The two portions are connected by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell.") AnnotationAssertion(rdfs:label "Abnormal placenta morphology") @@ -203192,7 +203185,7 @@ SubClassOf( ) "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T11:53:08Z") -AnnotationAssertion(Annotation( ) Annotation( "http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html") Annotation( ) "Stomach churning") +AnnotationAssertion(Annotation( ) Annotation( "http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html") Annotation( ) "Stomach churning") AnnotationAssertion( "SNOMEDCT_US:271838002") AnnotationAssertion( "SNOMEDCT_US:80306002") AnnotationAssertion( "UMLS:C0232474") @@ -203221,7 +203214,7 @@ SubClassOf( ) AnnotationAssertion( "2011-06-07T05:13:50Z") AnnotationAssertion( "UMLS:C4021973") -AnnotationAssertion(Annotation( ) "Cartilage destruction") +AnnotationAssertion(Annotation( ) "Cartilage destruction") AnnotationAssertion( "HP:0100773") AnnotationAssertion(rdfs:label "Cartilage destruction") SubClassOf( ) @@ -203236,7 +203229,7 @@ AnnotationAssertion( "SNOMEDCT_US:203514008") AnnotationAssertion( "UMLS:C0020492") AnnotationAssertion( "Bone Hypertrophy") -AnnotationAssertion(Annotation( ) Annotation( ) "Bone overgrowth") +AnnotationAssertion(Annotation( ) Annotation( ) "Bone overgrowth") AnnotationAssertion( "HP:0100774") AnnotationAssertion(rdfs:comment "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density).") AnnotationAssertion(rdfs:label "Hyperostosis") @@ -203261,7 +203254,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-07T05:28:27Z") AnnotationAssertion( "UMLS:C0747556") AnnotationAssertion( "Pharyngitis, recurrent") -AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent sore throat") +AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent sore throat") AnnotationAssertion( "HP:0100776") AnnotationAssertion(rdfs:label "Recurrent pharyngitis") SubClassOf( ) @@ -203276,7 +203269,7 @@ AnnotationAssertion( "SNOMEDCT_US:416189003") AnnotationAssertion( "SNOMEDCT_US:80400009") AnnotationAssertion( "UMLS:C1442903") -AnnotationAssertion(Annotation( ) Annotation( ) "Formation of new noncancerous bone on top of existing bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Formation of new noncancerous bone on top of existing bone") AnnotationAssertion( "HP:0100777") AnnotationAssertion(rdfs:label "Exostoses") SubClassOf( ) @@ -203339,7 +203332,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-07T06:02:34Z") AnnotationAssertion( "SNOMEDCT_US:111324004") AnnotationAssertion( "UMLS:C0266009") -AnnotationAssertion(Annotation( ) "Absent breast") +AnnotationAssertion(Annotation( ) "Absent breast") AnnotationAssertion( "Congenital absence of breast") AnnotationAssertion( "Mammary gland aplasia") AnnotationAssertion( "HP:0100783") @@ -203364,8 +203357,8 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D007319") AnnotationAssertion( "SNOMEDCT_US:193462001") AnnotationAssertion( "UMLS:C0917801") -AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty staying or falling asleep") -AnnotationAssertion(Annotation( ) "Fragmented sleep") +AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty staying or falling asleep") +AnnotationAssertion(Annotation( ) "Fragmented sleep") AnnotationAssertion( "HP:0100785") AnnotationAssertion(rdfs:label "Insomnia") SubClassOf( ) @@ -203377,7 +203370,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D006970") AnnotationAssertion( "SNOMEDCT_US:77692006") AnnotationAssertion( "UMLS:C0917799") -AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sleepiness") +AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sleepiness") AnnotationAssertion( "HP:0100786") AnnotationAssertion(rdfs:label "Hypersomnia") SubClassOf( ) @@ -203400,9 +203393,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-08T02:16:16Z") AnnotationAssertion( "UMLS:C4021970") -AnnotationAssertion(Annotation( ) Annotation( ) "Adhesion of upper and lower lips") -AnnotationAssertion(Annotation( ) "Fused lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of upper and lower lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Adhesion of upper and lower lips") +AnnotationAssertion(Annotation( ) "Fused lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Fusion of upper and lower lips") AnnotationAssertion( "HP:0100788") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Fused lips") @@ -203465,7 +203458,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-08T03:52:57Z") AnnotationAssertion( "UMLS:C4021969") -AnnotationAssertion(Annotation( ) "Abnormally straight spine") +AnnotationAssertion(Annotation( ) "Abnormally straight spine") AnnotationAssertion( "HP:0100795") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormally straight spine") @@ -203480,7 +203473,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D009920") AnnotationAssertion( "SNOMEDCT_US:274718005") AnnotationAssertion( "UMLS:C0029191") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of testicles") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of testicles") AnnotationAssertion( "HP:0100796") AnnotationAssertion(rdfs:label "Orchitis") SubClassOf( ) @@ -203491,7 +203484,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-08T04:23:37Z") AnnotationAssertion( "UMLS:C3276623") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal toenail development") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal toenail development") AnnotationAssertion( "Dysplastic toenails") AnnotationAssertion( "HP:0100797") AnnotationAssertion(rdfs:label "Toenail dysplasia") @@ -203505,7 +203498,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-08T04:23:53Z") AnnotationAssertion( "UMLS:C4020952") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fingernail development") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal fingernail development") AnnotationAssertion( "Dysplastic fingernails") AnnotationAssertion( "HP:0100798") AnnotationAssertion(rdfs:comment "If possible, a more precise term should be chosen for annotation.") @@ -203521,7 +203514,7 @@ AnnotationAssertion( AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127006003") AnnotationAssertion( "UMLS:C0345617") -AnnotationAssertion(Annotation( ) Annotation( ) "Middle ear tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Middle ear tumor") AnnotationAssertion(Annotation( ) "Middle ear tumour") AnnotationAssertion( "Neoplasia of the middle ear") AnnotationAssertion( "HP:0100799") @@ -203535,8 +203528,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T11:45:58Z") AnnotationAssertion( "UMLS:C4021968") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pancreas") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pancreas") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small pancreas") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped pancreas") AnnotationAssertion( "HP:0100800") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the pancreas") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -203548,7 +203541,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T11:46:59Z") AnnotationAssertion( "UMLS:C4021967") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent pancreas") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent pancreas") AnnotationAssertion( "HP:0100801") AnnotationAssertion(rdfs:label "Pancreatic aplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -203560,7 +203553,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T11:52:49Z") AnnotationAssertion( "UMLS:C1402983") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal stomach location") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal stomach location") AnnotationAssertion( "Gastric ectopia") AnnotationAssertion( "Gastric malposition") AnnotationAssertion( "HP:0100802") @@ -203611,7 +203604,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-09T01:05:51Z") AnnotationAssertion( "MSH:D018805") AnnotationAssertion( "UMLS:C0036690") -AnnotationAssertion(Annotation( ) Annotation( ) "Infection in blood stream") +AnnotationAssertion(Annotation( ) Annotation( ) "Infection in blood stream") AnnotationAssertion( "HP:0100806") AnnotationAssertion(rdfs:label "Sepsis") SubClassOf( ) @@ -203623,7 +203616,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-09T01:13:15Z") AnnotationAssertion( "HP:0006010") AnnotationAssertion( "UMLS:C1858091") -AnnotationAssertion(Annotation( ) "Long fingers") +AnnotationAssertion(Annotation( ) "Long fingers") AnnotationAssertion( "HP:0100807") AnnotationAssertion(rdfs:label "Long fingers") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -203648,14 +203641,14 @@ SubClassOf( ) "Pain or discomfort of the scalp elicited by palpation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T01:46:12Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Scalp pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Scalp pain") AnnotationAssertion(Annotation(rdfs:label "Scalp tenderness") "MEDDRA:10039521") AnnotationAssertion( "SNOMEDCT_US:75851004") AnnotationAssertion( "UMLS:C0151206") AnnotationAssertion( "UMLS:C0240940") AnnotationAssertion( "UMLS:C4073183") AnnotationAssertion( "Scalp hypersensitivity") -AnnotationAssertion(Annotation( ) "Scalp tenderness") +AnnotationAssertion(Annotation( ) "Scalp tenderness") AnnotationAssertion(Annotation( ) "Allodynia of scalp") AnnotationAssertion( "HP:0100809") AnnotationAssertion(rdfs:label "Scalp tenderness") @@ -203665,11 +203658,11 @@ SubClassOf( ) AnnotationAssertion( "2011-06-09T01:51:46Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Pointed ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Pointed ear") AnnotationAssertion( "UMLS:C4020951") AnnotationAssertion( "Elfin ear") AnnotationAssertion( "Spock ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Spock's ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Spock's ear") AnnotationAssertion( "Vulcan ear") AnnotationAssertion( "HP:0100810") AnnotationAssertion(rdfs:label "Pointed helix") @@ -203681,8 +203674,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T01:54:57Z") AnnotationAssertion( "UMLS:C4021964") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small colon") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped colon") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/small colon") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent/underdeveloped colon") AnnotationAssertion( "HP:0100811") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the colon") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -203698,7 +203691,7 @@ AnnotationAssertion(Annotation(rdfs:label "Breath odour") "MSH:D006209") AnnotationAssertion( "SNOMEDCT_US:79879001") AnnotationAssertion( "UMLS:C0018520") -AnnotationAssertion(Annotation( ) "Bad breath") +AnnotationAssertion(Annotation( ) "Bad breath") AnnotationAssertion( "Foetor ex ore") AnnotationAssertion( "HP:0100812") AnnotationAssertion( ) @@ -203729,7 +203722,7 @@ AnnotationAssertion( "SNOMEDCT_US:40467008") AnnotationAssertion( "UMLS:C0265985") AnnotationAssertion( "UMLS:C4020699") -AnnotationAssertion(Annotation( ) Annotation( ) "Mongolian spot") +AnnotationAssertion(Annotation( ) Annotation( ) "Mongolian spot") AnnotationAssertion( "Congenital dermal melanocytosis") AnnotationAssertion( "HP:0100814") AnnotationAssertion(rdfs:label "Blue nevus") @@ -203740,9 +203733,9 @@ SubClassOf( ) AnnotationAssertion( "2011-06-09T02:18:39Z") AnnotationAssertion( "UMLS:C4021963") -AnnotationAssertion(Annotation( ) Annotation( ) "Darkening of skin of the lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Darkening of skin of the lips") AnnotationAssertion(Annotation( ) "Hyperpigmentation of lip vermillion") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased pigmentation on the lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased pigmentation on the lips") AnnotationAssertion( "HP:0100816") AnnotationAssertion(rdfs:label "Lip hyperpigmentation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -203772,7 +203765,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-09T04:51:15Z") AnnotationAssertion( "SNOMEDCT_US:298710001") AnnotationAssertion( "UMLS:C0575484") -AnnotationAssertion(Annotation( ) Annotation( ) "Long rib cage") +AnnotationAssertion(Annotation( ) Annotation( ) "Long rib cage") AnnotationAssertion( "HP:0100818") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Long thorax") @@ -203851,8 +203844,8 @@ AnnotationAssertion( "SNOMEDCT_US:7847004") AnnotationAssertion( "UMLS:C0007971") AnnotationAssertion( "UMLS:C4280288") -AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the lips") -AnnotationAssertion(Annotation( ) Annotation( ) "Red and sore lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the lips") +AnnotationAssertion(Annotation( ) Annotation( ) "Red and sore lips") AnnotationAssertion( "HP:0100825") AnnotationAssertion( ) AnnotationAssertion(rdfs:comment "It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma.") @@ -203866,7 +203859,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-09T05:31:21Z") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "UMLS:C4021961") -AnnotationAssertion(Annotation( ) Annotation( ) "Nail tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Nail tumor") AnnotationAssertion(Annotation( ) "Nail tumour") AnnotationAssertion( "HP:0100826") AnnotationAssertion(rdfs:label "Neoplasm of the nail") @@ -203882,7 +203875,7 @@ AnnotationAssertion( "MSH:D008218") AnnotationAssertion( "SNOMEDCT_US:67023009") AnnotationAssertion( "UMLS:C0024282") -AnnotationAssertion(Annotation( ) Annotation( ) "High lymphocyte count") +AnnotationAssertion(Annotation( ) Annotation( ) "High lymphocyte count") AnnotationAssertion( "HP:0100827") AnnotationAssertion(rdfs:label "Lymphocytosis") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -203911,7 +203904,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D005687") AnnotationAssertion( "UMLS:C3665358") AnnotationAssertion( "Galactorrhoea") -AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous milk flow from breast") +AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous milk flow from breast") AnnotationAssertion( "HP:0100829") AnnotationAssertion(rdfs:label "Galactorrhea") SubClassOf( ) @@ -203921,7 +203914,7 @@ SubClassOf( ) AnnotationAssertion( "2011-06-09T05:41:29Z") AnnotationAssertion( "UMLS:C4021959") -AnnotationAssertion(Annotation( ) "Round ear") +AnnotationAssertion(Annotation( ) "Round ear") AnnotationAssertion( "HP:0100830") AnnotationAssertion(rdfs:label "Round ear") SubClassOf( ) @@ -203932,7 +203925,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T05:46:50Z") AnnotationAssertion( "UMLS:C4021958") -AnnotationAssertion(Annotation( ) "Abnormality of vitamin K metabolism") +AnnotationAssertion(Annotation( ) "Abnormality of vitamin K metabolism") AnnotationAssertion( "HP:0100831") AnnotationAssertion(rdfs:label "Abnormality of vitamin K metabolism") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -203948,12 +203941,12 @@ AnnotationAssertion( "SNOMEDCT_US:420999000") AnnotationAssertion( "UMLS:C0016242") AnnotationAssertion( "UMLS:C1720491") -AnnotationAssertion(Annotation( ) Annotation( ) "Eye floaters") +AnnotationAssertion(Annotation( ) Annotation( ) "Eye floaters") AnnotationAssertion( "Flitting flies") AnnotationAssertion( "Mouches volantes") AnnotationAssertion( "Myodeopsia") AnnotationAssertion( "Myodesopsia") -AnnotationAssertion(Annotation( ) "Spots in front of eyes") +AnnotationAssertion(Annotation( ) "Spots in front of eyes") AnnotationAssertion( "Vitreous condensations") AnnotationAssertion( "Vitreous debris") AnnotationAssertion( "Vitreous opacities") @@ -203972,7 +203965,7 @@ AnnotationAssertion( AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126832004") AnnotationAssertion( "UMLS:C0345832") -AnnotationAssertion(Annotation( ) Annotation( ) "Small intestine tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Small intestine tumor") AnnotationAssertion(Annotation( ) "Small intestine tumour") AnnotationAssertion( "HP:0100833") AnnotationAssertion(rdfs:comment "An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas.") @@ -203988,7 +203981,7 @@ AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126837005") AnnotationAssertion( "UMLS:C0009404") -AnnotationAssertion(Annotation( ) Annotation( ) "Large intestine tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Large intestine tumor") AnnotationAssertion(Annotation( ) "Large intestine tumour") AnnotationAssertion( "HP:0100834") AnnotationAssertion(rdfs:label "Neoplasm of the large intestine") @@ -204053,7 +204046,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-06-09T06:37:25Z") AnnotationAssertion( "SNOMEDCT_US:3650004") AnnotationAssertion( "UMLS:C0266258") -AnnotationAssertion(Annotation( ) Annotation( ) "Failed liver development") +AnnotationAssertion(Annotation( ) Annotation( ) "Failed liver development") AnnotationAssertion( "Liver agenesis") AnnotationAssertion( "HP:0100839") AnnotationAssertion(rdfs:label "Hepatic agenesis") @@ -204069,14 +204062,14 @@ AnnotationAssertion( "UMLS:C2266639") AnnotationAssertion( "UMLS:C3551430") AnnotationAssertion( "UMLS:C4021956") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of eyebrow") AnnotationAssertion(Annotation( ) "Agenesis of eyebrow") AnnotationAssertion(Annotation( ) "Hypotrophic eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyebrow") -AnnotationAssertion(Annotation( ) Annotation( ) "Sparse or absent eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Sparse to absent eyebrows") -AnnotationAssertion(Annotation( ) Annotation( ) "Sparse/absent eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing eyebrow") +AnnotationAssertion(Annotation( ) Annotation( ) "Sparse or absent eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Sparse to absent eyebrows") +AnnotationAssertion(Annotation( ) Annotation( ) "Sparse/absent eyebrows") AnnotationAssertion( "HP:0100840") AnnotationAssertion(rdfs:label "Aplasia/Hypoplasia of the eyebrow") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204135,7 +204128,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D000707") AnnotationAssertion( "SNOMEDCT_US:39579001") AnnotationAssertion( "UMLS:C0002792") -AnnotationAssertion(Annotation( ) "Anaphylaxis") +AnnotationAssertion(Annotation( ) "Anaphylaxis") AnnotationAssertion( "HP:0100845") AnnotationAssertion(rdfs:comment "Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated.") AnnotationAssertion(rdfs:label "Anaphylactic shock") @@ -204181,7 +204174,7 @@ AnnotationAssertion( "SNOMEDCT_US:126905005") AnnotationAssertion( "UMLS:C0341790") AnnotationAssertion( "Neoplasia of the scrotum") -AnnotationAssertion(Annotation( ) Annotation( ) "Scrotum tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Scrotum tumor") AnnotationAssertion(Annotation( ) "Scrotum tumour") AnnotationAssertion( "HP:0100849") AnnotationAssertion(rdfs:label "Neoplasm of the scrotum") @@ -204198,7 +204191,7 @@ AnnotationAssertion( "SNOMEDCT_US:126896003") AnnotationAssertion( "UMLS:C0030849") AnnotationAssertion( "Neoplasia of the penis") -AnnotationAssertion(Annotation( ) Annotation( ) "Penis tumor") +AnnotationAssertion(Annotation( ) Annotation( ) "Penis tumor") AnnotationAssertion(Annotation( ) "Penis tumour") AnnotationAssertion( "HP:0100850") AnnotationAssertion(rdfs:label "Neoplasm of the penis") @@ -204250,7 +204243,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-11-30T09:51:08Z") AnnotationAssertion( "UMLS:C4021955") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent musculature") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent musculature") AnnotationAssertion( "HP:0100854") AnnotationAssertion(rdfs:label "Aplasia of the musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204262,8 +204255,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-11-30T09:56:14Z") AnnotationAssertion( "UMLS:C4021954") -AnnotationAssertion(Annotation( ) Annotation( ) "Small triceps") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped triceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Small triceps") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdeveloped triceps") AnnotationAssertion( "HP:0100855") AnnotationAssertion(rdfs:label "Triceps hypoplasia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204365,7 +204358,7 @@ SubClassOf( ) AnnotationAssertion( "2011-11-30T10:48:08Z") AnnotationAssertion( "UMLS:C4021949") -AnnotationAssertion(Annotation( ) Annotation( ) "Absent neck of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Absent neck of thighbone") AnnotationAssertion( "HP:0100863") AnnotationAssertion(rdfs:label "Aplasia of the femoral neck") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204383,7 +204376,7 @@ AnnotationAssertion( "Hypoplasia of the femoral neck") AnnotationAssertion( "Hypoplastic femoral neck") AnnotationAssertion( "Short femoral necks") -AnnotationAssertion(Annotation( ) Annotation( ) "Short neck of thighbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Short neck of thighbone") AnnotationAssertion( "HP:0100864") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Short femoral neck") @@ -204409,7 +204402,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-11-30T11:11:24Z") AnnotationAssertion( "UMLS:C1849063") -AnnotationAssertion(Annotation( ) Annotation( ) "Short pelvis bones") +AnnotationAssertion(Annotation( ) Annotation( ) "Short pelvis bones") AnnotationAssertion( "HP:0100866") AnnotationAssertion(rdfs:label "Short iliac bones") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204471,7 +204464,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-11-30T11:21:16Z") AnnotationAssertion( "UMLS:C4021948") -AnnotationAssertion(Annotation( ) "Abnormality of the palm") +AnnotationAssertion(Annotation( ) "Abnormality of the palm") AnnotationAssertion( "HP:0100871") AnnotationAssertion(rdfs:label "Abnormal palm morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204498,8 +204491,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-01T02:13:58Z") AnnotationAssertion( "UMLS:C4073184") AnnotationAssertion(Annotation( ) "Increased follicular density") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased hair density") -AnnotationAssertion(Annotation( ) "Thick hair") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased hair density") +AnnotationAssertion(Annotation( ) "Thick hair") AnnotationAssertion( "HP:0100874") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Thick hair") @@ -204516,8 +204509,8 @@ AnnotationAssertion( "UMLS:C4280287") AnnotationAssertion(Annotation( ) "Hemiglossal hypertrophy") AnnotationAssertion(Annotation( ) "Hypertrophy of half of the tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of half of the tongue") -AnnotationAssertion(Annotation( ) Annotation( ) "Large half of tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of half of the tongue") +AnnotationAssertion(Annotation( ) Annotation( ) "Large half of tongue") AnnotationAssertion( "HP:0100875") AnnotationAssertion(rdfs:label "Hemimacroglossia") SubClassOf( ) @@ -204529,8 +204522,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-01T02:21:22Z") AnnotationAssertion( "HP:0007796") AnnotationAssertion( "UMLS:C1857280") -AnnotationAssertion(Annotation( ) Annotation( ) "Crease in skin under the eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Groove in skin under the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Crease in skin under the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Groove in skin under the eye") AnnotationAssertion( "Infraorbital crease") AnnotationAssertion( "Infraorbital creases") AnnotationAssertion( "Underorbital skin creases") @@ -204561,7 +204554,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-01T02:32:26Z") AnnotationAssertion( "SNOMEDCT_US:198319004") AnnotationAssertion( "UMLS:C0151994") -AnnotationAssertion(Annotation( ) "Enlarged uterus") +AnnotationAssertion(Annotation( ) "Enlarged uterus") AnnotationAssertion( "HP:0100878") AnnotationAssertion(rdfs:label "Enlarged uterus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204573,7 +204566,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-01T02:33:12Z") AnnotationAssertion( "SNOMEDCT_US:66998000") AnnotationAssertion( "UMLS:C0392039") -AnnotationAssertion(Annotation( ) "Enlarged ovaries") +AnnotationAssertion(Annotation( ) "Enlarged ovaries") AnnotationAssertion( "HP:0100879") AnnotationAssertion(rdfs:label "Enlarged ovaries") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204665,8 +204658,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-13T04:25:29Z") AnnotationAssertion( "UMLS:C4021946") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eyeball location") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eyeball position") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eyeball location") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eyeball position") AnnotationAssertion(Annotation( ) "Abnormality of globe position") AnnotationAssertion( "HP:0100886") AnnotationAssertion(rdfs:label "Abnormality of globe location") @@ -204680,8 +204673,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-13T04:25:29Z") AnnotationAssertion( "HP:0010725") AnnotationAssertion( "UMLS:C4021945") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eyeball size") -AnnotationAssertion(Annotation( ) "Eye size difference") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of eyeball size") +AnnotationAssertion(Annotation( ) "Eye size difference") AnnotationAssertion( "HP:0100887") AnnotationAssertion(rdfs:label "Abnormality of globe size") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -204806,7 +204799,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-02T09:34:05Z") AnnotationAssertion( "UMLS:C4020941") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the finger bone") AnnotationAssertion( "Sclerosis of the phalanges of the hand") AnnotationAssertion( "HP:0100899") AnnotationAssertion(rdfs:label "Sclerosis of finger phalanx") @@ -204817,7 +204810,7 @@ SubClassOf( (Sclerosis of the distal phalanx of the 2nd finger) AnnotationAssertion( "UMLS:C4021942") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the index finger") AnnotationAssertion( "HP:0100900") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204827,7 +204820,7 @@ SubClassOf( (Sclerosis of the distal phalanx of the 3rd finger) AnnotationAssertion( "UMLS:C4021941") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the middle finger") AnnotationAssertion( "HP:0100901") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204837,7 +204830,7 @@ SubClassOf( (Sclerosis of the distal phalanx of the 4th finger) AnnotationAssertion( "UMLS:C4021940") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the ring finger") AnnotationAssertion( "HP:0100902") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204847,9 +204840,9 @@ SubClassOf( (Sclerosis of the distal phalanx of the 5th finger) AnnotationAssertion( "UMLS:C4021939") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost pinky finger bone") AnnotationAssertion( "HP:0100903") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204859,7 +204852,7 @@ SubClassOf( (Sclerosis of the middle phalanx of the 2nd finger) AnnotationAssertion( "UMLS:C4021938") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the index finger") AnnotationAssertion( "HP:0100904") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204869,7 +204862,7 @@ SubClassOf( (Sclerosis of the middle phalanx of the 3rd finger) AnnotationAssertion( "UMLS:C4021937") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the middle finger") AnnotationAssertion( "HP:0100905") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204879,7 +204872,7 @@ SubClassOf( (Sclerosis of the middle phalanx of the 4th finger) AnnotationAssertion( "UMLS:C4021936") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the ring finger") AnnotationAssertion( "HP:0100906") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204889,9 +204882,9 @@ SubClassOf( (Sclerosis of the middle phalanx of the 5th finger) AnnotationAssertion( "UMLS:C4021935") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the little finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinkie finger") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinky finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the little finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinkie finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinky finger") AnnotationAssertion( "HP:0100907") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204901,7 +204894,7 @@ SubClassOf( (Sclerosis of the proximal phalanx of the 2nd finger) AnnotationAssertion( "UMLS:C4021934") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the index finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the index finger") AnnotationAssertion( "HP:0100908") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 2nd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204911,7 +204904,7 @@ SubClassOf( (Sclerosis of the proximal phalanx of the 3rd finger) AnnotationAssertion( "UMLS:C4021933") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost bone of the middle finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost bone of the middle finger") AnnotationAssertion( "HP:0100909") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 3rd finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204921,7 +204914,7 @@ SubClassOf( (Sclerosis of the proximal phalanx of the 4th finger) AnnotationAssertion( "UMLS:C4021932") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the ring finger") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the ring finger") AnnotationAssertion( "HP:0100910") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 4th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204931,9 +204924,9 @@ SubClassOf( (Sclerosis of the proximal phalanx of the 5th finger) AnnotationAssertion( "UMLS:C4021931") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost pinky finger bone") AnnotationAssertion( "HP:0100911") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 5th finger") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204944,7 +204937,7 @@ SubClassOf( ) "An elevation of bone density in the distal phalanx of the thumb.") AnnotationAssertion( "UMLS:C4021930") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the thumb") AnnotationAssertion( "HP:0100912") AnnotationAssertion(rdfs:comment "Sclerosis can be identified on a radiograph as an area of increased opacity.") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the thumb") @@ -204956,7 +204949,7 @@ SubClassOf( ) "An elevation of bone density in the proximal phalanx of the thumb.") AnnotationAssertion( "UMLS:C4021929") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the thumb") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the thumb") AnnotationAssertion( "HP:0100913") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the thumb") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204966,7 +204959,7 @@ SubClassOf( (Sclerosis of the 1st metacarpal) AnnotationAssertion( "UMLS:C4021928") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 1st long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 1st long bone of hand") AnnotationAssertion( "HP:0100914") AnnotationAssertion(rdfs:label "Sclerosis of the 1st metacarpal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -204976,7 +204969,7 @@ SubClassOf( ) "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020940") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in outermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in outermost finger bone") AnnotationAssertion( "Sclerosis of the distal phalanges of the hand") AnnotationAssertion( "HP:0100915") AnnotationAssertion(rdfs:label "Sclerosis of distal finger phalanx") @@ -204988,7 +204981,7 @@ SubClassOf( ) "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020939") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in middle finger bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in middle finger bone of hand") AnnotationAssertion( "Sclerosis of the middle phalanges of the hand") AnnotationAssertion( "HP:0100916") AnnotationAssertion(rdfs:label "Sclerosis of middle finger phalanx") @@ -205000,7 +204993,7 @@ SubClassOf( ) "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020938") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost finger bone") AnnotationAssertion( "Sclerosis of the proximal phalanges of the hand") AnnotationAssertion( "HP:0100917") AnnotationAssertion(rdfs:label "Sclerosis of proximal finger phalanx") @@ -205012,7 +205005,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020937") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 2nd finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 2nd finger bone") AnnotationAssertion( "Sclerosis of the phalanges of the 2nd finger") AnnotationAssertion( "HP:0100918") AnnotationAssertion(rdfs:label "Sclerosis of 2nd finger phalanx") @@ -205024,7 +205017,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020936") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in middle finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in middle finger bone") AnnotationAssertion( "Sclerosis of the phalanges of the 3rd finger") AnnotationAssertion( "HP:0100919") AnnotationAssertion(rdfs:label "Sclerosis of 3rd finger phalanx") @@ -205036,7 +205029,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020935") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in ring finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in ring finger bone") AnnotationAssertion( "Sclerosis of the phalanges of the 4th finger") AnnotationAssertion( "HP:0100920") AnnotationAssertion(rdfs:label "Sclerosis of 4th finger phalanx") @@ -205048,9 +205041,9 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020934") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in little finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinkie finger bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinky finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in little finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinkie finger bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinky finger bone") AnnotationAssertion( "Sclerosis of the phalanges of the 5th finger") AnnotationAssertion( "HP:0100921") AnnotationAssertion(rdfs:label "Sclerosis of 5th finger phalanx") @@ -205061,7 +205054,7 @@ SubClassOf( (Sclerosis of thumb phalanx) AnnotationAssertion( "UMLS:C4020933") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in thumb bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in thumb bone") AnnotationAssertion( "Sclerosis of the phalanges of the thumb") AnnotationAssertion( "HP:0100922") AnnotationAssertion(rdfs:label "Sclerosis of thumb phalanx") @@ -205076,7 +205069,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-12-02T10:28:41Z") AnnotationAssertion( "HP:0006648") AnnotationAssertion( "UMLS:C3554669") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in collarbone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in collarbone") AnnotationAssertion( "Osteosclerosis of the clavicle") AnnotationAssertion(Annotation( ) "Osteosclerosis of the clavicles") AnnotationAssertion( "HP:0100923") @@ -205091,7 +205084,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-02T11:08:43Z") AnnotationAssertion( "UMLS:C4020932") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the toe bone") AnnotationAssertion( "Sclerosis of the phalanges of the toes") AnnotationAssertion( "HP:0100924") AnnotationAssertion(rdfs:label "Sclerosis of toe phalanx") @@ -205105,7 +205098,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-12-02T11:12:32Z") AnnotationAssertion( "UMLS:C4020931") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in foot bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in foot bone") AnnotationAssertion( "Sclerosis of bones of the feet") AnnotationAssertion( "HP:0100925") AnnotationAssertion(rdfs:label "Sclerosis of foot bone") @@ -205116,7 +205109,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020930") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 2nd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 2nd toe bone") AnnotationAssertion( "Sclerosis of the phalanges of the 2nd toe") AnnotationAssertion( "HP:0100926") AnnotationAssertion(rdfs:label "Sclerosis of 2nd toe phalanx") @@ -205127,7 +205120,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020929") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 3rd toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 3rd toe bone") AnnotationAssertion( "Sclerosis of the phalanges of the 3rd toe") AnnotationAssertion( "HP:0100927") AnnotationAssertion(rdfs:label "Sclerosis of 3rd toe phalanx") @@ -205138,7 +205131,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020928") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 4th toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in 4th toe bone") AnnotationAssertion( "Sclerosis of the phalanges of the 4th toe") AnnotationAssertion( "HP:0100928") AnnotationAssertion(rdfs:label "Sclerosis of 4th toe phalanx") @@ -205149,9 +205142,9 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020927") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in little toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinkie toe bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinky toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in little toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinkie toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in pinky toe bone") AnnotationAssertion( "Sclerosis of the phalanges of the 5th toe") AnnotationAssertion( "HP:0100929") AnnotationAssertion(rdfs:label "Sclerosis of 5th toe phalanx") @@ -205162,7 +205155,7 @@ SubClassOf( ) "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020926") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in big toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in big toe bone") AnnotationAssertion( "Sclerosis of the phalanges of the hallux") AnnotationAssertion( "HP:0100930") AnnotationAssertion(rdfs:label "Sclerosis of hallux phalanx") @@ -205173,7 +205166,7 @@ SubClassOf( ) "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4021927") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the 2nd toe") AnnotationAssertion( "HP:0100931") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205184,7 +205177,7 @@ SubClassOf( ) "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4021926") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the 3rd toe") AnnotationAssertion( "HP:0100932") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205194,7 +205187,7 @@ SubClassOf( (Sclerosis of the proximal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4021925") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the 4th toe") AnnotationAssertion( "HP:0100933") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205204,9 +205197,9 @@ SubClassOf( (Sclerosis of the proximal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4021924") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the pinky toe") AnnotationAssertion( "HP:0100934") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205216,7 +205209,7 @@ SubClassOf( (Sclerosis of the middle phalanx of the 2nd toe) AnnotationAssertion( "UMLS:C4021923") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the 2nd toe") AnnotationAssertion( "HP:0100935") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205227,7 +205220,7 @@ SubClassOf( ) "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4021922") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the 3rd toe") AnnotationAssertion( "HP:0100936") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205237,7 +205230,7 @@ SubClassOf( (Sclerosis of the middle phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4021921") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the 4th toe") AnnotationAssertion( "HP:0100937") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205247,9 +205240,9 @@ SubClassOf( (Sclerosis of the middle phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4021920") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the middle bone of the pinky toe") AnnotationAssertion( "HP:0100938") AnnotationAssertion(rdfs:label "Sclerosis of the middle phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205259,7 +205252,7 @@ SubClassOf( (Sclerosis of the distal phalanx of the 2nd toe) AnnotationAssertion( "UMLS:C4021919") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the 2nd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the 2nd toe") AnnotationAssertion( "HP:0100939") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 2nd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205271,7 +205264,7 @@ SubClassOf( ) "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4021918") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the 3rd toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the 3rd toe") AnnotationAssertion( "HP:0100940") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 3rd toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205281,7 +205274,7 @@ SubClassOf( (Sclerosis of the distal phalanx of the 4th toe) AnnotationAssertion( "UMLS:C4021917") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the 4th toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the 4th toe") AnnotationAssertion( "HP:0100941") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 4th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205291,9 +205284,9 @@ SubClassOf( (Sclerosis of the distal phalanx of the 5th toe) AnnotationAssertion( "UMLS:C4021916") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the little toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the pinkie toe") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the pinky toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the little toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the pinkie toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the pinky toe") AnnotationAssertion( "HP:0100942") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the 5th toe") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205303,7 +205296,7 @@ SubClassOf( (Sclerosis of the proximal phalanx of the hallux) AnnotationAssertion( "UMLS:C4021915") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the innermost bone of the big toe") AnnotationAssertion( "HP:0100943") AnnotationAssertion(rdfs:label "Sclerosis of the proximal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205313,7 +205306,7 @@ SubClassOf( (Sclerosis of the distal phalanx of the hallux) AnnotationAssertion( "UMLS:C4021914") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the big toe") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the big toe") AnnotationAssertion( "HP:0100944") AnnotationAssertion(rdfs:label "Sclerosis of the distal phalanx of the hallux") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205324,7 +205317,7 @@ SubClassOf( (Sclerosis of the 1st metatarsal) AnnotationAssertion( "UMLS:C4021913") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the 1st long bone of foot") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the 1st long bone of foot") AnnotationAssertion( "HP:0100945") AnnotationAssertion(rdfs:label "Sclerosis of the 1st metatarsal") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -205334,7 +205327,7 @@ SubClassOf( ) "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020925") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in innermost toe bone") AnnotationAssertion( "Sclerosis of the proximal phalanges of the toes") AnnotationAssertion( "HP:0100946") AnnotationAssertion(rdfs:label "Sclerosis of proximal toe phalanx") @@ -205346,7 +205339,7 @@ SubClassOf( ) "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020924") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in middle toe bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in middle toe bone") AnnotationAssertion( "Sclerosis of the middle phalanges of the toes") AnnotationAssertion( "HP:0100947") AnnotationAssertion(rdfs:label "Sclerosis of middle toe phalanx") @@ -205358,7 +205351,7 @@ SubClassOf( ) "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "UMLS:C4020923") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the toes") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased bone density in the outermost bone of the toes") AnnotationAssertion( "Sclerosis of the distal phalanges of the toes") AnnotationAssertion( "HP:0100948") AnnotationAssertion(rdfs:label "Sclerosis of distal toe phalanx") @@ -205511,7 +205504,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-01-18T06:06:28Z") AnnotationAssertion( "MSH:D012792") AnnotationAssertion( "UMLS:C0037020") -AnnotationAssertion(Annotation( ) "Shyness") +AnnotationAssertion(Annotation( ) "Shyness") AnnotationAssertion( "HP:0100962") AnnotationAssertion(rdfs:label "Shyness") SubClassOf( ) @@ -205560,7 +205553,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-05-31T02:19:45Z") AnnotationAssertion( "HP:0004978") AnnotationAssertion( "UMLS:C4021906") -AnnotationAssertion(Annotation( ) Annotation( ) "Splayed end part of bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Splayed end part of bone") AnnotationAssertion( "HP:0200003") AnnotationAssertion(rdfs:label "Splayed epiphyses") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -205573,7 +205566,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-09T07:56:37Z") AnnotationAssertion( "UMLS:C4021905") AnnotationAssertion(Annotation( ) "Abnormal morphology of the palpebral fissure") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of the opening between the eyelids") AnnotationAssertion( "HP:0200005") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Abnormal shape of the palpebral fissure") @@ -205585,7 +205578,7 @@ SubClassOf( ) AnnotationAssertion( "2010-06-09T07:57:10Z") AnnotationAssertion( "UMLS:C2748932") -AnnotationAssertion(Annotation( ) Annotation( ) "Slanting of the opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Slanting of the opening between the eyelids") AnnotationAssertion( "HP:0200006") AnnotationAssertion(rdfs:label "Slanting of the palpebral fissure") SubClassOf( ) @@ -205597,8 +205590,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-09T08:18:52Z") AnnotationAssertion( "UMLS:C4021904") AnnotationAssertion( "UMLS:C4280286") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal size of the opening between the eyelids") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal size of the eyes") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal size of the opening between the eyelids") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal size of the eyes") AnnotationAssertion( "HP:0200007") AnnotationAssertion(rdfs:label "Abnormal size of the palpebral fissures") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -205609,7 +205602,7 @@ SubClassOf( ) "The presence of multiple polyps in the intestine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-09T11:38:54Z") -AnnotationAssertion(Annotation( ) Annotation( ) "Growths in inner lining of intestine") +AnnotationAssertion(Annotation( ) Annotation( ) "Growths in inner lining of intestine") AnnotationAssertion( "MSH:D044483") AnnotationAssertion( "UMLS:C0744333") AnnotationAssertion( "UMLS:C1257915") @@ -205646,7 +205639,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-10T09:37:17Z") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "UMLS:C4021901") -AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of fatty tissue") +AnnotationAssertion(Annotation( ) Annotation( ) "Tumor of fatty tissue") AnnotationAssertion(Annotation( ) "Tumour of fatty tissue") AnnotationAssertion( "HP:0200013") AnnotationAssertion(rdfs:label "Neoplasm of fatty tissue") @@ -205699,7 +205692,7 @@ AnnotationAssertion( "UMLS:C0155015") AnnotationAssertion( "UMLS:C3887980") AnnotationAssertion( "Colorblindness, partial, protan series") -AnnotationAssertion(Annotation( ) Annotation( ) "Red-weak") +AnnotationAssertion(Annotation( ) Annotation( ) "Red-weak") AnnotationAssertion( "HP:0200018") AnnotationAssertion(rdfs:comment "Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green.") AnnotationAssertion(rdfs:label "Protanomaly") @@ -205713,7 +205706,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-16T01:50:48Z") AnnotationAssertion( "SNOMEDCT_US:50792001") AnnotationAssertion( "UMLS:C0392163") -AnnotationAssertion(Annotation( ) Annotation( ) "Damage to outer layer of the cornea of the eye") +AnnotationAssertion(Annotation( ) Annotation( ) "Damage to outer layer of the cornea of the eye") AnnotationAssertion( "HP:0200020") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Corneal erosion") @@ -205727,10 +205720,10 @@ AnnotationAssertion( AnnotationAssertion( "HP:0001556") AnnotationAssertion( "HP:0006663") AnnotationAssertion( "UMLS:C1856872") -AnnotationAssertion(Annotation( ) "Down-sloping shoulders") -AnnotationAssertion(Annotation( ) "Rounded shoulders") -AnnotationAssertion(Annotation( ) "Rounded, sloping shoulders") -AnnotationAssertion(Annotation( ) "Sloping shoulders") +AnnotationAssertion(Annotation( ) "Down-sloping shoulders") +AnnotationAssertion(Annotation( ) "Rounded shoulders") +AnnotationAssertion(Annotation( ) "Rounded, sloping shoulders") +AnnotationAssertion(Annotation( ) "Sloping shoulders") AnnotationAssertion( "HP:0200021") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Down-sloping shoulders") @@ -205784,7 +205777,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-06-16T07:33:14Z") AnnotationAssertion( "SNOMEDCT_US:274667000") AnnotationAssertion( "UMLS:C0236000") -AnnotationAssertion(Annotation( ) Annotation( ) "Lower jaw pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Lower jaw pain") AnnotationAssertion( "HP:0200025") AnnotationAssertion(rdfs:label "Mandibular pain") SubClassOf( ) @@ -205798,7 +205791,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D058447") AnnotationAssertion( "SNOMEDCT_US:41652007") AnnotationAssertion( "UMLS:C0151827") -AnnotationAssertion(Annotation( ) Annotation( ) "Eye pain") +AnnotationAssertion(Annotation( ) Annotation( ) "Eye pain") AnnotationAssertion( "HP:0200026") AnnotationAssertion(rdfs:label "Ocular pain") SubClassOf( ) @@ -205917,7 +205910,7 @@ AnnotationAssertion( "SNOMEDCT_US:47002008") AnnotationAssertion( "UMLS:C0241157") AnnotationAssertion( "UMLS:C0542346") -AnnotationAssertion(Annotation( ) Annotation( ) "Pimple") +AnnotationAssertion(Annotation( ) Annotation( ) "Pimple") AnnotationAssertion( "Pustula") AnnotationAssertion( "Pustular lesion") AnnotationAssertion(Annotation( ) Annotation( ) "Pustules") @@ -205946,7 +205939,7 @@ AnnotationAssertion( "Epidermal inclusion cyst") AnnotationAssertion( "Infundibular cyst") AnnotationAssertion( "Keratin cyst") -AnnotationAssertion(Annotation( ) "Skin cyst") +AnnotationAssertion(Annotation( ) "Skin cyst") AnnotationAssertion(Annotation( ) Annotation( ) "Epidermoid cysts") AnnotationAssertion( "Sebaceous cyst") AnnotationAssertion( "HP:0200040") @@ -205976,7 +205969,7 @@ AnnotationAssertion(Annotation(rdfs:label "Skin ulcer") "MSH:D012883") AnnotationAssertion( "SNOMEDCT_US:46742003") AnnotationAssertion( "UMLS:C0037299") -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Open skin sore") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Open skin sore") AnnotationAssertion( "HP:0200042") AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Skin ulcer") @@ -205991,7 +205984,7 @@ AnnotationAssertion( "SNOMEDCT_US:30285000") AnnotationAssertion( "SNOMEDCT_US:57019003") AnnotationAssertion( "UMLS:C3665596") -AnnotationAssertion(Annotation( ) Annotation( ) "Warts") +AnnotationAssertion(Annotation( ) Annotation( ) "Warts") AnnotationAssertion( "HP:0200043") AnnotationAssertion(rdfs:comment "Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion.") AnnotationAssertion(rdfs:label "Verrucae") @@ -206016,8 +206009,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-02-02T01:56:20Z") AnnotationAssertion( "SNOMEDCT_US:42712003") AnnotationAssertion( "UMLS:C0234861") -AnnotationAssertion(Annotation( ) "Cat cry") -AnnotationAssertion(Annotation( ) Annotation( ) "cat-like cry") +AnnotationAssertion(Annotation( ) "Cat cry") +AnnotationAssertion(Annotation( ) Annotation( ) "cat-like cry") AnnotationAssertion(Annotation( ) "cri de chat-associated cry") AnnotationAssertion( "HP:0200046") AnnotationAssertion(rdfs:comment "This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age.") @@ -206061,7 +206054,7 @@ SubClassOf( ) AnnotationAssertion( "UMLS:C4021897") -AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of long bone of hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Bracket shaped end part of long bone of hand") AnnotationAssertion( "HP:0200050") AnnotationAssertion(rdfs:label "Bracket metacarpal epiphyses") SubClassOf( ) @@ -206095,9 +206088,9 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "SNOMEDCT_US:299032009") AnnotationAssertion( "UMLS:C0575802") -AnnotationAssertion(Annotation( ) "Disproportionately small hands") -AnnotationAssertion(Annotation( ) "Small hand") -AnnotationAssertion(Annotation( ) Annotation( ) "Small hands") +AnnotationAssertion(Annotation( ) "Disproportionately small hands") +AnnotationAssertion(Annotation( ) "Small hand") +AnnotationAssertion(Annotation( ) Annotation( ) "Small hands") AnnotationAssertion( "HP:0200055") AnnotationAssertion(rdfs:label "Small hand") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -206226,7 +206219,7 @@ SubClassOf( ) AnnotationAssertion( "2013-05-31T01:48:09Z") AnnotationAssertion( "UMLS:C3553016") -AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of the outer part of the retina") +AnnotationAssertion(Annotation( ) Annotation( ) "Wasting of the outer part of the retina") AnnotationAssertion( "HP:0200070") AnnotationAssertion(rdfs:label "Peripheral retinal atrophy") SubClassOf( ) @@ -206267,7 +206260,7 @@ SubClassOf( ) AnnotationAssertion( "2013-06-03T04:14:07Z") AnnotationAssertion( "UMLS:C1835446") -AnnotationAssertion(Annotation( ) "Severe limb shortening") +AnnotationAssertion(Annotation( ) "Severe limb shortening") AnnotationAssertion( "HP:0200083") AnnotationAssertion(rdfs:label "Severe limb shortening") SubClassOf( ) @@ -206295,9 +206288,9 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-06-04T02:39:15Z") AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "UMLS:C0235081") -AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary shaking of limb") -AnnotationAssertion(Annotation( ) "Limb tremor") -AnnotationAssertion(Annotation( ) Annotation( ) "Tremor of limbs") +AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary shaking of limb") +AnnotationAssertion(Annotation( ) "Limb tremor") +AnnotationAssertion(Annotation( ) Annotation( ) "Tremor of limbs") AnnotationAssertion( "HP:0200085") AnnotationAssertion(rdfs:label "Limb tremor") SubClassOf( ) @@ -206326,7 +206319,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-06-04T03:06:03Z") AnnotationAssertion( "UMLS:C1859292") -AnnotationAssertion(Annotation( ) "Triangular-shaped open mouth") +AnnotationAssertion(Annotation( ) "Triangular-shaped open mouth") AnnotationAssertion( "HP:0200096") AnnotationAssertion(rdfs:label "Triangular-shaped open mouth") SubClassOf( ) @@ -206339,10 +206332,10 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-06-05T09:59:58Z") AnnotationAssertion( "UMLS:C0853945") AnnotationAssertion(Annotation( ) "Blebs of oral mucosa") -AnnotationAssertion(Annotation( ) Annotation( ) "Blisters of mouth") +AnnotationAssertion(Annotation( ) Annotation( ) "Blisters of mouth") AnnotationAssertion(Annotation( ) "Bullae of oral mucosa") AnnotationAssertion( "Oral blistering") -AnnotationAssertion(Annotation( ) "Oral mucosal blisters") +AnnotationAssertion(Annotation( ) "Oral mucosal blisters") AnnotationAssertion(Annotation( ) "Oral mucosa blisters") AnnotationAssertion( "HP:0200097") AnnotationAssertion(rdfs:label "Oral mucosal blisters") @@ -206355,8 +206348,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-06-05T10:22:18Z") AnnotationAssertion( "UMLS:C2673954") -AnnotationAssertion(Annotation( ) "Absent skin pigmentation") -AnnotationAssertion(Annotation( ) Annotation( ) "Lack of skin coloration") +AnnotationAssertion(Annotation( ) "Absent skin pigmentation") +AnnotationAssertion(Annotation( ) Annotation( ) "Lack of skin coloration") AnnotationAssertion( "HP:0200098") AnnotationAssertion(rdfs:label "Absent skin pigmentation") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -206376,8 +206369,8 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-06-05T11:58:29Z") AnnotationAssertion( "UMLS:C1850816") -AnnotationAssertion(Annotation( ) "Decreased/absent ankle reflexes") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased or absent ankle reflexes") +AnnotationAssertion(Annotation( ) "Decreased/absent ankle reflexes") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased or absent ankle reflexes") AnnotationAssertion( "HP:0200101") AnnotationAssertion(rdfs:label "Decreased/absent ankle reflexes") SubClassOf( ) @@ -206389,9 +206382,9 @@ AnnotationAssertion( AnnotationAssertion( "UMLS:C1835157") AnnotationAssertion( "UMLS:C1862855") AnnotationAssertion( "UMLS:C3551431") -AnnotationAssertion(Annotation( ) "Sparse or absent eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Partial to total absence of eyelashes") -AnnotationAssertion(Annotation( ) Annotation( ) "Sparse to absent eyelashes") +AnnotationAssertion(Annotation( ) "Sparse or absent eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Partial to total absence of eyelashes") +AnnotationAssertion(Annotation( ) Annotation( ) "Sparse to absent eyelashes") AnnotationAssertion( "HP:0200102") AnnotationAssertion(rdfs:label "Sparse or absent eyelashes") EquivalentClasses( ObjectSomeValuesFrom( ObjectUnionOf( ))) @@ -206404,8 +206397,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-06-05T12:11:16Z") AnnotationAssertion( "HP:0011366") AnnotationAssertion( "UMLS:C4020917") -AnnotationAssertion(Annotation( ) "Absent fifth fingernail") -AnnotationAssertion(Annotation( ) "Absent nail of fifth finger") +AnnotationAssertion(Annotation( ) "Absent fifth fingernail") +AnnotationAssertion(Annotation( ) "Absent nail of fifth finger") AnnotationAssertion( "HP:0200104") AnnotationAssertion(rdfs:label "Absent fifth fingernail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -206416,8 +206409,8 @@ SubClassOf( ) AnnotationAssertion( "2013-06-05T12:11:38Z") AnnotationAssertion( "UMLS:C4021892") -AnnotationAssertion(Annotation( ) "Absent fifth toenail") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing fifth toenail") +AnnotationAssertion(Annotation( ) "Absent fifth toenail") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing fifth toenail") AnnotationAssertion( "HP:0200105") AnnotationAssertion(rdfs:label "Absent fifth toenail") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -206531,7 +206524,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-06-11T11:15:57Z") AnnotationAssertion( "SNOMEDCT_US:37871000") AnnotationAssertion( "UMLS:C0267797") -AnnotationAssertion(Annotation( ) Annotation( ) "Acute liver inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Acute liver inflammation") AnnotationAssertion( "HP:0200119") AnnotationAssertion(rdfs:label "Acute hepatitis") SubClassOf( ) @@ -206554,7 +206547,7 @@ SubClassOf( ) AnnotationAssertion( "2013-06-11T11:20:29Z") AnnotationAssertion( "UMLS:C1848456") -AnnotationAssertion(Annotation( ) Annotation( ) "Atypical or prolonged liver inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Atypical or prolonged liver inflammation") AnnotationAssertion( "HP:0200122") AnnotationAssertion(rdfs:label "Atypical or prolonged hepatitis") SubClassOf( ) @@ -206567,7 +206560,7 @@ AnnotationAssertion( AnnotationAssertion( "MSH:D006521") AnnotationAssertion( "SNOMEDCT_US:76783007") AnnotationAssertion( "UMLS:C0019189") -AnnotationAssertion(Annotation( ) Annotation( ) "Chronic liver inflammation") +AnnotationAssertion(Annotation( ) Annotation( ) "Chronic liver inflammation") AnnotationAssertion( "HP:0200123") AnnotationAssertion(rdfs:label "Chronic hepatitis") SubClassOf( ) @@ -206685,9 +206678,9 @@ AnnotationAssertion( "UMLS:C4280284") AnnotationAssertion( "UMLS:C4280285") AnnotationAssertion(Annotation( ) "Conical microdontia") -AnnotationAssertion(Annotation( ) Annotation( ) "Small, cone shaped teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Small, peg shaped teeth") -AnnotationAssertion(Annotation( ) Annotation( ) "Small, pointed teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small, cone shaped teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small, peg shaped teeth") +AnnotationAssertion(Annotation( ) Annotation( ) "Small, pointed teeth") AnnotationAssertion( "HP:0200141") AnnotationAssertion(rdfs:label "Small, conical teeth") SubClassOf( ) @@ -206747,7 +206740,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2013-06-13T01:01:21Z") AnnotationAssertion( "UMLS:C2750654") AnnotationAssertion( "UMLS:C4021883") -AnnotationAssertion(Annotation( ) "Abnormal liver function tests during pregnancy") +AnnotationAssertion(Annotation( ) "Abnormal liver function tests during pregnancy") AnnotationAssertion(Annotation( ) "Abnormal liver function tests during pregnancy, resolves postpartum") AnnotationAssertion( "HP:0200148") AnnotationAssertion(rdfs:label "Abnormal liver function tests during pregnancy") @@ -206796,7 +206789,7 @@ AnnotationAssertion( "UMLS:C4227831") AnnotationAssertion(Annotation( ) "Failure of development of lateral incisor") AnnotationAssertion(Annotation( ) "Absence of lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lateral incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lateral incisor") AnnotationAssertion(rdfs:label "Agenesis of lateral incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -206806,9 +206799,9 @@ SubClassOf( "UMLS:C4021880") AnnotationAssertion( "UMLS:C4280283") AnnotationAssertion(Annotation( ) "Failure of development of mandibular lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower lateral incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower lateral incisor") AnnotationAssertion(Annotation( ) "Absence of mandibular lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower lateral incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower lateral incisor") AnnotationAssertion(Annotation( ) "Missing mandibular lateral incisor") AnnotationAssertion(rdfs:label "Agenesis of mandibular lateral incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -206837,7 +206830,7 @@ AnnotationAssertion(Annotation( ) "Failure of development of deciduous mandibular lateral incisor") AnnotationAssertion(Annotation( ) "Failure of development of primary mandibular lateral incisor") AnnotationAssertion(Annotation( ) "Absence of deciduous mandibular lateral incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower front baby tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower front baby tooth") AnnotationAssertion(Annotation( ) "Absence of primary mandibular lateral incisor") AnnotationAssertion(Annotation( ) "Missing deciduous mandibular lateral incisor") AnnotationAssertion(Annotation( ) "Missing primary mandibular lateral incisor") @@ -206852,10 +206845,10 @@ AnnotationAssertion( "UMLS:C4280279") AnnotationAssertion(Annotation( ) "Failure of development of maxillary incisor") AnnotationAssertion(Annotation( ) "Failure of development of upper incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of upper front tooth") AnnotationAssertion(Annotation( ) "Absence of maxillary incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper front tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing upper incisor") AnnotationAssertion(rdfs:label "Agenesis of maxillary incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -206867,11 +206860,11 @@ AnnotationAssertion( "UMLS:C4280277") AnnotationAssertion(Annotation( ) "Agenesis of lower incisor") AnnotationAssertion(Annotation( ) "Failure of development of mandibular incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower front tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Absence of lower incisor") AnnotationAssertion(Annotation( ) "Absence of mandibular incisor") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower front tooth") -AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower incisor") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower front tooth") +AnnotationAssertion(Annotation( ) Annotation( ) "Missing lower incisor") AnnotationAssertion(rdfs:label "Agenesis of mandibular incisor") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -206882,13 +206875,13 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:471397004") AnnotationAssertion( "UMLS:C3532221") AnnotationAssertion( "UMLS:C4021875") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased height of chin") AnnotationAssertion(Annotation( ) "Increased height of menton region") -AnnotationAssertion(Annotation( ) Annotation( ) "Long chin") -AnnotationAssertion(Annotation( ) "Tall chin") +AnnotationAssertion(Annotation( ) Annotation( ) "Long chin") +AnnotationAssertion(Annotation( ) "Tall chin") AnnotationAssertion(Annotation( ) "Vertical excess of chin") AnnotationAssertion(Annotation( ) "Vertical hyperplasia of chin") -AnnotationAssertion(Annotation( ) Annotation( ) "Long lower third of face") +AnnotationAssertion(Annotation( ) Annotation( ) "Long lower third of face") AnnotationAssertion(rdfs:label "Tall chin") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -206897,12 +206890,12 @@ SubClassOf( "PMID:19125436") Annotation( "eom:8a5493c72e0dd13c") "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.") AnnotationAssertion( "UMLS:C4020916") -AnnotationAssertion(Annotation( ) "Chin with vertical crease") +AnnotationAssertion(Annotation( ) "Chin with vertical crease") AnnotationAssertion(Annotation( ) "Chin with vertical furrow") AnnotationAssertion(Annotation( ) "Chin with vertical groove") AnnotationAssertion(Annotation( ) "Chin with vertical sulcus") AnnotationAssertion( "Chin, vertical crease") -AnnotationAssertion(Annotation( ) "Cleft chin") +AnnotationAssertion(Annotation( ) "Cleft chin") AnnotationAssertion(Annotation( ) "Vertical chin skin cleft") AnnotationAssertion(Annotation( ) "Vertical menton crease") AnnotationAssertion(rdfs:comment "The vertical shape must be distinguished from H-shaped crease of the chin.") @@ -206929,8 +206922,8 @@ SubClassOf( "PMID:19152421") Annotation( "eom:2028381d5c61842a") "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.") AnnotationAssertion( "UMLS:C1848657") -AnnotationAssertion(Annotation( ) "Long ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Long ears") +AnnotationAssertion(Annotation( ) "Long ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Long ears") AnnotationAssertion(rdfs:comment "The commonly used term Macrotia is a bundled term comprising increased length and width (surface area).") AnnotationAssertion(rdfs:label "Long ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -206940,8 +206933,8 @@ SubClassOf( "PMID:19152421") Annotation( "eom:2cff5ac9b681fc73") "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.") AnnotationAssertion( "UMLS:C3551041") -AnnotationAssertion(Annotation( ) "Short ear") -AnnotationAssertion(Annotation( ) Annotation( ) "Short ears") +AnnotationAssertion(Annotation( ) "Short ear") +AnnotationAssertion(Annotation( ) Annotation( ) "Short ears") AnnotationAssertion(rdfs:comment "The commonly used term Microtia is a bundled term comprising decreased length and width (surface area).") AnnotationAssertion(rdfs:label "Short ear") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -207019,7 +207012,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.") AnnotationAssertion( "UMLS:C4073187") -AnnotationAssertion(Annotation( ) "Abnormality of the peripheral nervous system") +AnnotationAssertion(Annotation( ) "Abnormality of the peripheral nervous system") AnnotationAssertion(rdfs:label "Abnormality of the peripheral nervous system") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -207054,8 +207047,8 @@ SubClassOf( ) "Any abnormality of the mouth floor.") AnnotationAssertion( "UMLS:C4073191") -AnnotationAssertion(Annotation( ) "Abnormality of the floor of mouth") -AnnotationAssertion(Annotation( ) "Abnormality of the mouth floor") +AnnotationAssertion(Annotation( ) "Abnormality of the floor of mouth") +AnnotationAssertion(Annotation( ) "Abnormality of the mouth floor") AnnotationAssertion(rdfs:label "Abnormal mouth floor morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -207097,15 +207090,15 @@ SubClassOf( (Otitis externa) AnnotationAssertion(Annotation( ) Annotation( "http://search.medscape.com/search/?q=otitis%20externa") "Inflammation or infection of the external auditory canal (EAC), the auricle, or both.") -AnnotationAssertion(Annotation( ) "Swimmer's ear") +AnnotationAssertion(Annotation( ) "Swimmer's ear") AnnotationAssertion(rdfs:label "Otitis externa") SubClassOf( ) # Class: (Recurrent ear infections) AnnotationAssertion(Annotation( ) "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.") -AnnotationAssertion(Annotation( ) "Frequent ear infections") -AnnotationAssertion(Annotation( ) "Recurrent ear infections") +AnnotationAssertion(Annotation( ) "Frequent ear infections") +AnnotationAssertion(Annotation( ) "Recurrent ear infections") AnnotationAssertion(rdfs:label "Recurrent ear infections") SubClassOf( ) @@ -207119,10 +207112,10 @@ SubClassOf( (Fish odor) AnnotationAssertion(Annotation( "http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm") "Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.") -AnnotationAssertion(Annotation( ) "Fish odour") +AnnotationAssertion(Annotation( ) "Fish odour") AnnotationAssertion(Annotation( ) "Fishy body odor") AnnotationAssertion(Annotation( ) "Fishy body odour") -AnnotationAssertion(Annotation( ) "Fishy odor") +AnnotationAssertion(Annotation( ) "Fishy odor") AnnotationAssertion(Annotation( ) "Fishy odour") AnnotationAssertion(rdfs:label "Fish odor") SubClassOf( ) @@ -207130,16 +207123,16 @@ SubClassOf( (Musty odor) AnnotationAssertion( "Pungent body odor.") -AnnotationAssertion(Annotation( ) "Musty odor") -AnnotationAssertion(Annotation( ) "Musty odour") +AnnotationAssertion(Annotation( ) "Musty odor") +AnnotationAssertion(Annotation( ) "Musty odour") AnnotationAssertion(rdfs:label "Musty odor") SubClassOf( ) # Class: (Vaginal fish odor) AnnotationAssertion(Annotation( "PMID:16086821") "A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).") -AnnotationAssertion(Annotation( ) "Vaginal fish odor") -AnnotationAssertion(Annotation( ) "Vaginal fish odour") +AnnotationAssertion(Annotation( ) "Vaginal fish odor") +AnnotationAssertion(Annotation( ) "Vaginal fish odour") AnnotationAssertion(rdfs:label "Vaginal fish odor") SubClassOf( ) @@ -207185,7 +207178,7 @@ SubClassOf( "A gap in the lip or lips.") AnnotationAssertion(dc:date "2017-06-20T22:17:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Cleft lip") +AnnotationAssertion(Annotation( ) "Cleft lip") AnnotationAssertion( "Cleft of the lip") AnnotationAssertion(rdfs:label "Cleft lip") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -207741,7 +207734,7 @@ SubClassOf( "Any abnormality of the chest muscles.") AnnotationAssertion(dc:date "2018-05-01T17:37:03Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Muscle issues in the chest") +AnnotationAssertion(Annotation( ) "Muscle issues in the chest") AnnotationAssertion( "Abnormality of the chest musculature") AnnotationAssertion(rdfs:label "Abnormal morphology of the chest musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -207752,7 +207745,7 @@ SubClassOf( "Any abnormality of the back muscles.") AnnotationAssertion(dc:date "2018-05-01T17:38:59Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Muscle issues in the back") +AnnotationAssertion(Annotation( ) "Muscle issues in the back") AnnotationAssertion(rdfs:label "Abnormality of the back musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -207763,7 +207756,7 @@ AnnotationAssertion( "2018-05-01T17:39:54Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Abnormality of the shoulder musculature") -AnnotationAssertion(Annotation( ) "Muscle issues in the shoulder") +AnnotationAssertion(Annotation( ) "Muscle issues in the shoulder") AnnotationAssertion(rdfs:label "Abnormal morphology of the shoulder musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -207823,7 +207816,7 @@ AnnotationAssertion(Annotation( "2018-05-21T17:36:23Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Elevated circulating ketone body concentration") -AnnotationAssertion(Annotation( ) "Increased level of ketone bodies in blood") +AnnotationAssertion(Annotation( ) "Increased level of ketone bodies in blood") AnnotationAssertion( "Ketonemia") AnnotationAssertion(rdfs:label "Hyperketonemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -208188,7 +208181,7 @@ SubClassOf( "An abnormally high level of blood oxygen in the cord blood.") AnnotationAssertion(dc:date "2018-09-12T00:44:20Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "High cord blood oxygen level") +AnnotationAssertion(Annotation( ) "High cord blood oxygen level") AnnotationAssertion(rdfs:label "Hyperoxemia in cord blood") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -208198,7 +208191,7 @@ SubClassOf( "An abnormally low level of blood oxygen in the cord blood.") AnnotationAssertion(dc:date "2018-09-12T00:44:25Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Low cord blood oxygen level") +AnnotationAssertion(Annotation( ) "Low cord blood oxygen level") AnnotationAssertion(rdfs:label "Hypoxemia in cord blood") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -208208,7 +208201,7 @@ SubClassOf( "Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.") AnnotationAssertion(dc:date "2018-09-12T00:44:30Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "High cord blood carbon dioxide level") +AnnotationAssertion(Annotation( ) "High cord blood carbon dioxide level") AnnotationAssertion(rdfs:label "Hypercapnia in cord blood") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -208218,7 +208211,7 @@ SubClassOf( "Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.") AnnotationAssertion(dc:date "2018-09-12T00:44:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Low cord blood carbon dioxide level") +AnnotationAssertion(Annotation( ) "Low cord blood carbon dioxide level") AnnotationAssertion(rdfs:label "Hypocapnia in cord blood") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -208801,7 +208794,7 @@ SubClassOf( "PMID:23399526") "A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.") AnnotationAssertion(dc:date "2018-11-06T23:08:26Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Indigestion") +AnnotationAssertion(Annotation( ) Annotation( ) "Indigestion") AnnotationAssertion(rdfs:label "Dyspepsia") SubClassOf( ) @@ -208901,8 +208894,8 @@ SubClassOf( "An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).") AnnotationAssertion(dc:date "2019-01-28T21:28:37Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Abnormal level of natural antibody to blood group agents") -AnnotationAssertion(Annotation( ) "Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)") +AnnotationAssertion(Annotation( ) "Abnormal level of natural antibody to blood group agents") +AnnotationAssertion(Annotation( ) "Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)") AnnotationAssertion(rdfs:label "Abnormal isohemagglutinin level") SubClassOf( ) @@ -209127,7 +209120,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against alpha-gal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to alpha-gal") -AnnotationAssertion(Annotation( ) "Alpha-gal allergy") +AnnotationAssertion(Annotation( ) "Alpha-gal allergy") AnnotationAssertion( "IgE-mediated alpha-gal allergy") AnnotationAssertion( "Immunoglobulin E-mediated alpha-gal allergy") AnnotationAssertion(rdfs:label "Alpha-gal allergy") @@ -209138,7 +209131,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against animal proteins.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to animal proteins") -AnnotationAssertion(Annotation( ) "Animal protein allergy") +AnnotationAssertion(Annotation( ) "Animal protein allergy") AnnotationAssertion( "IgE-mediated animal protein allergy") AnnotationAssertion( "Immunoglobulin E-mediated animal protein allergy") AnnotationAssertion(rdfs:label "Animal protein allergy") @@ -209149,7 +209142,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against animal dander.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to animal dander") -AnnotationAssertion(Annotation( ) "Animal dander allergy") +AnnotationAssertion(Annotation( ) "Animal dander allergy") AnnotationAssertion( "IgE-mediated animal dander allergy") AnnotationAssertion( "Immunoglobulin E-mediated animal dander allergy") AnnotationAssertion(rdfs:label "Animal dander allergy") @@ -209160,7 +209153,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against bacteria.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to bacteria") -AnnotationAssertion(Annotation( ) "Bacteria allergy") +AnnotationAssertion(Annotation( ) "Bacteria allergy") AnnotationAssertion( "IgE-mediated bacteria allergy") AnnotationAssertion( "Immunoglobulin E-mediated bacteria allergy") AnnotationAssertion(rdfs:label "Bacteria allergy") @@ -209171,7 +209164,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against drugs.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to drugs") -AnnotationAssertion(Annotation( ) "Drug allergy") +AnnotationAssertion(Annotation( ) "Drug allergy") AnnotationAssertion( "IgE-mediated drug allergy") AnnotationAssertion( "Immunoglobulin E-mediated drug allergy") AnnotationAssertion(rdfs:label "Drug allergy") @@ -209183,7 +209176,7 @@ AnnotationAssertion( ) AnnotationAssertion( "HP:0410325") AnnotationAssertion( "Allergy to dust mites") -AnnotationAssertion(Annotation( ) "Dust mite allergy") +AnnotationAssertion(Annotation( ) "Dust mite allergy") AnnotationAssertion( "House dust mite allergy") AnnotationAssertion( "IgE-mediated dust mite allergy") AnnotationAssertion( "Immunoglobulin E-mediated dust mite allergy") @@ -209202,7 +209195,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion( "Hypersensitivity in form of an adverse immune reaction against feathers.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to feathers") -AnnotationAssertion(Annotation( ) "Feather allergy") +AnnotationAssertion(Annotation( ) "Feather allergy") AnnotationAssertion( "IgE-mediated feather allergy") AnnotationAssertion( "Immunoglobulin E-mediated feather allergy") AnnotationAssertion(rdfs:label "Feather allergy") @@ -209213,7 +209206,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against dairy.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to dairy") -AnnotationAssertion(Annotation( ) "Dairy allergy") +AnnotationAssertion(Annotation( ) "Dairy allergy") AnnotationAssertion( "IgE-mediated dairy allergy") AnnotationAssertion( "Immunoglobulin E-mediated dairy allergy") AnnotationAssertion(rdfs:label "Dairy allergy") @@ -209224,7 +209217,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against eggs.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to eggs") -AnnotationAssertion(Annotation( ) "Egg allergy") +AnnotationAssertion(Annotation( ) "Egg allergy") AnnotationAssertion( "IgE-mediated egg allergy") AnnotationAssertion( "Immunoglobulin E-mediated egg allergy") AnnotationAssertion(rdfs:label "Egg allergy") @@ -209235,7 +209228,7 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against gluten.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to gluten") -AnnotationAssertion(Annotation( ) "Gluten allergy") +AnnotationAssertion(Annotation( ) "Gluten allergy") AnnotationAssertion( "IgE-mediated gluten allergy") AnnotationAssertion( "Immunoglobulin E-mediated gluten allergy") AnnotationAssertion(rdfs:comment "A gluten allergy is usually distinct from gluten sensitivity or Celiac disease.") @@ -209249,8 +209242,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to meat allergens") AnnotationAssertion( "IgE-mediated meat allergen allergy") AnnotationAssertion( "Immunoglobulin E-mediated meat allergen allergy") -AnnotationAssertion(Annotation( ) "Meat allergen allergy") -AnnotationAssertion(Annotation( ) "Meat allergy") +AnnotationAssertion(Annotation( ) "Meat allergen allergy") +AnnotationAssertion(Annotation( ) "Meat allergy") AnnotationAssertion(rdfs:label "Meat allergen allergy") SubClassOf( ) @@ -209261,8 +209254,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to nut food products") AnnotationAssertion( "IgE-mediated nut food product allergy") AnnotationAssertion( "Immunoglobulin E-mediated nut food product allergy") -AnnotationAssertion(Annotation( ) "Nut allergy") -AnnotationAssertion(Annotation( ) "Nut food product allergy") +AnnotationAssertion(Annotation( ) "Nut allergy") +AnnotationAssertion(Annotation( ) "Nut food product allergy") AnnotationAssertion(rdfs:label "Nut food product allergy") SubClassOf( ) @@ -209273,7 +209266,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to plant based food allergens") AnnotationAssertion( "IgE-mediated plant based food allergen allergy") AnnotationAssertion( "Immunoglobulin E-mediated plant based food allergen allergy") -AnnotationAssertion(Annotation( ) "Plant based food allergy") +AnnotationAssertion(Annotation( ) "Plant based food allergy") AnnotationAssertion(rdfs:label "Plant based food allergy") SubClassOf( ) @@ -209284,7 +209277,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to seafood") AnnotationAssertion( "IgE-mediated seafood allergy") AnnotationAssertion( "Immunoglobulin E-mediated seafood allergy") -AnnotationAssertion(Annotation( ) "Seafood allergy") +AnnotationAssertion(Annotation( ) "Seafood allergy") AnnotationAssertion(rdfs:label "Seafood allergy") SubClassOf( ) @@ -209293,9 +209286,9 @@ SubClassOf( "Hypersensitivity in form of an adverse immune reaction against fungus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Allergy to fungi") -AnnotationAssertion(Annotation( ) "Fungal allergy") -AnnotationAssertion(Annotation( ) "Fungi allergy") -AnnotationAssertion(Annotation( ) "Fungus allergy") +AnnotationAssertion(Annotation( ) "Fungal allergy") +AnnotationAssertion(Annotation( ) "Fungi allergy") +AnnotationAssertion(Annotation( ) "Fungus allergy") AnnotationAssertion( "IgE-mediated fungi allergy") AnnotationAssertion( "Immunoglobulin E-mediated fungi allergy") AnnotationAssertion(rdfs:label "Fungi allergy") @@ -209308,7 +209301,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to insects") AnnotationAssertion( "IgE-mediated insect allergy") AnnotationAssertion( "Immunoglobulin E-mediated insect allergy") -AnnotationAssertion(Annotation( ) "Insect allergy") +AnnotationAssertion(Annotation( ) "Insect allergy") AnnotationAssertion(rdfs:label "Insect allergy") SubClassOf( ) @@ -209319,7 +209312,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to venom") AnnotationAssertion( "IgE-mediated venom allergy") AnnotationAssertion( "Immunoglobulin E-mediated venom allergy") -AnnotationAssertion(Annotation( ) "Venom allergy") +AnnotationAssertion(Annotation( ) "Venom allergy") AnnotationAssertion(rdfs:label "Venom allergy") SubClassOf( ) @@ -209330,7 +209323,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to parasites") AnnotationAssertion( "IgE-mediated parasite allergy") AnnotationAssertion( "Immunoglobulin E-mediated parasite allergy") -AnnotationAssertion(Annotation( ) "Parasite allergy") +AnnotationAssertion(Annotation( ) "Parasite allergy") AnnotationAssertion(rdfs:label "Parasite allergy") SubClassOf( ) @@ -209341,7 +209334,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to plant products") AnnotationAssertion( "IgE-mediated plant product allergy") AnnotationAssertion( "Immunoglobulin E-mediated plant product allergy") -AnnotationAssertion(Annotation( ) "Plant product allergy") +AnnotationAssertion(Annotation( ) "Plant product allergy") AnnotationAssertion(rdfs:label "Plant product allergy") SubClassOf( ) @@ -209352,7 +209345,7 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "Allergy to insect bites") AnnotationAssertion( "IgE-mediated insect bite allergy") AnnotationAssertion( "Immunoglobulin E-mediated insect bite allergy") -AnnotationAssertion(Annotation( ) "Insect bite allergy") +AnnotationAssertion(Annotation( ) "Insect bite allergy") AnnotationAssertion(rdfs:label "Insect bite allergy") SubClassOf( ) @@ -209886,7 +209879,7 @@ SubClassOf( "HPO_CONTRIBUTOR:GOC_MG") "An abnormality of the frontal bone.") AnnotationAssertion( "UMLS:C4021873") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the bone of the forehead") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the bone of the forehead") AnnotationAssertion( "Abnormality of the frontal bone") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal morphology of frontal bone") AnnotationAssertion(Annotation( ) "Anomaly of the frontal bone") @@ -209952,7 +209945,7 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:90216006") AnnotationAssertion( "UMLS:C0152454") AnnotationAssertion(Annotation( ) "Eyelid adhesion to globe of eye") -AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid stuck to eyeball") +AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid stuck to eyeball") AnnotationAssertion(rdfs:label "Symblepharon") SubClassOf( ) @@ -209962,8 +209955,8 @@ AnnotationAssertion(Annotation( "SNOMEDCT_US:24606006") AnnotationAssertion( "UMLS:C0266576") AnnotationAssertion( "UMLS:C4280275") -AnnotationAssertion(Annotation( ) Annotation( ) "Extra eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Double eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Extra eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Double eyelid") AnnotationAssertion(rdfs:label "Accessory eyelid") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -209971,15 +209964,15 @@ SubClassOf( (Hypoplasia of eyelid) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:GOC_MG") "Developmental hypoplasia of the eyelid.") -AnnotationAssertion(Annotation( ) Annotation( ) "Small eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Small eyelid") AnnotationAssertion( "SNOMEDCT_US:204203001") AnnotationAssertion( "UMLS:C0344499") AnnotationAssertion( "UMLS:C4280274") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased size of eyelid") AnnotationAssertion( "Hypoplasia of the eyelid") AnnotationAssertion( "Hypoplastic eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of eyelid") -AnnotationAssertion(Annotation( ) Annotation( ) "Short eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Underdevelopment of eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Short eyelid") AnnotationAssertion(rdfs:label "Hypoplasia of eyelid") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -209989,7 +209982,7 @@ SubClassOf( "http://medical-dictionary.thefreedictionary.com/microblepharia") "Abnormal shortness of the vertical dimensions of the eyelids.") AnnotationAssertion( "SNOMEDCT_US:94684003") AnnotationAssertion( "UMLS:C0685873") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyelid") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally small eyelid") AnnotationAssertion(rdfs:label "Microblepharia") SubClassOf( ) @@ -210066,9 +210059,9 @@ SubClassOf( ) "An abnormality of the muscles of the structure of the nose.") AnnotationAssertion( "UMLS:C4073200") -AnnotationAssertion(Annotation( ) "Abnormality of muscle of nose") -AnnotationAssertion(Annotation( ) "Abnormality of musculature of the nose") -AnnotationAssertion(Annotation( ) "Abnormality of nasal musculature") +AnnotationAssertion(Annotation( ) "Abnormality of muscle of nose") +AnnotationAssertion(Annotation( ) "Abnormality of musculature of the nose") +AnnotationAssertion(Annotation( ) "Abnormality of nasal musculature") AnnotationAssertion(rdfs:label "Abnormality of nasal musculature") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -210077,7 +210070,7 @@ SubClassOf( ) "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.") AnnotationAssertion( "UMLS:C4073201") -AnnotationAssertion(Annotation( ) "Abnormality of muscle of facial expression") +AnnotationAssertion(Annotation( ) "Abnormality of muscle of facial expression") AnnotationAssertion( "Abnormality of musculature of facial expression") AnnotationAssertion(rdfs:label "Abnormality of muscle of facial expression") SubClassOf( ) @@ -210093,7 +210086,7 @@ SubClassOf( ) "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.") AnnotationAssertion( "UMLS:C4073203") -AnnotationAssertion(Annotation( ) "Abnormality of the common carotid artery") +AnnotationAssertion(Annotation( ) "Abnormality of the common carotid artery") AnnotationAssertion(rdfs:label "Abnormal common carotid artery morphology") SubClassOf( ) @@ -210112,7 +210105,7 @@ AnnotationAssertion(Annotation( "UMLS:C4073205") AnnotationAssertion( "Abnormality of the antrum of Highmore") AnnotationAssertion( "Abnormality of the maxillary antrum") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the upper jaw sinus") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of the upper jaw sinus") AnnotationAssertion(rdfs:label "Abnormality of the maxillary sinus") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -210131,8 +210124,8 @@ AnnotationAssertion( ) "Bilateral facial muscle paralysis") AnnotationAssertion(Annotation( ) "Bilateral facial muscle weakness") AnnotationAssertion(Annotation( ) "Bilateral facial paralysis") -AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of both sides of the face") -AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of both sides of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of both sides of the face") +AnnotationAssertion(Annotation( ) Annotation( ) "Weakness of both sides of the face") AnnotationAssertion(rdfs:label "Bilateral facial palsy") SubClassOf( ) @@ -210151,23 +210144,23 @@ AnnotationAssertion( "UMLS:C4073209") AnnotationAssertion( "UMLS:C4280272") AnnotationAssertion( "UMLS:C4280273") -AnnotationAssertion(Annotation( ) Annotation( ) "Big maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Big upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Big maxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Big upper jaw") AnnotationAssertion(Annotation( ) "Hyperplasia of upper jaw") AnnotationAssertion(Annotation( ) "Increased size of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased size of upper jaw") AnnotationAssertion(Annotation( ) "Large maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Large upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Large upper jaw") AnnotationAssertion(Annotation( ) "Maxillary excess") AnnotationAssertion(Annotation( ) "Maxillary hyperplasia") AnnotationAssertion(Annotation( ) "Maxillary macrognathia") AnnotationAssertion(Annotation( ) "Maxillary prominence") AnnotationAssertion(Annotation( ) "Prominent maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Prominent upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Prominent upper jaw") AnnotationAssertion(Annotation( ) "Upper jaw bone excess") -AnnotationAssertion(Annotation( ) Annotation( ) "Upper jaw excess") +AnnotationAssertion(Annotation( ) Annotation( ) "Upper jaw excess") AnnotationAssertion(Annotation( ) "Increased projection of maxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased projection of upper jaw") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased projection of upper jaw") AnnotationAssertion(Annotation( ) "Hypertrophy of maxilla") AnnotationAssertion(Annotation( ) "Hypertrophy of upper jaw") AnnotationAssertion(Annotation( ) "Maxillary prognathia") @@ -210184,10 +210177,10 @@ AnnotationAssertion(Annotation( ) "Hyperplasia of the primary palate bone") AnnotationAssertion(Annotation( ) "Increased size of premaxilla") AnnotationAssertion(Annotation( ) "Increased size of the primary palate bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Large premaxilla") -AnnotationAssertion(Annotation( ) Annotation( ) "Large primary palate bone") -AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary excess") -AnnotationAssertion(Annotation( ) Annotation( ) "Primary palate bone excess") +AnnotationAssertion(Annotation( ) Annotation( ) "Large premaxilla") +AnnotationAssertion(Annotation( ) Annotation( ) "Large primary palate bone") +AnnotationAssertion(Annotation( ) Annotation( ) "Premaxillary excess") +AnnotationAssertion(Annotation( ) Annotation( ) "Primary palate bone excess") AnnotationAssertion(rdfs:label "Hyperplasia of the premaxilla") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -210196,7 +210189,7 @@ SubClassOf( ) "A perceived unpleasant smell given off by the body.") AnnotationAssertion(Annotation( ) "BO") -AnnotationAssertion(Annotation( ) "Body odor") +AnnotationAssertion(Annotation( ) "Body odor") AnnotationAssertion( "Body odour") AnnotationAssertion(Annotation( "http://emedicine.medscape.com/article/1072342-overview") "Bromhidrosis") AnnotationAssertion(Annotation( "http://emedicine.medscape.com/article/1072342-overview") "Bromidrosis") @@ -210207,8 +210200,8 @@ SubClassOf( (Anal pain) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918") "Pain in and around the anus or rectum (perianal region).") -AnnotationAssertion(Annotation( ) "Anal pain") -AnnotationAssertion(Annotation( ) "Rectal pain") +AnnotationAssertion(Annotation( ) "Anal pain") +AnnotationAssertion(Annotation( ) "Rectal pain") AnnotationAssertion(rdfs:label "Anal pain") SubClassOf( ) @@ -210253,8 +210246,8 @@ AnnotationAssertion(owl:deprecated " # Class: (Moon facies) AnnotationAssertion(Annotation( ) "A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.") -AnnotationAssertion(Annotation( ) "Moon face") -AnnotationAssertion(Annotation( ) "Puffy face") +AnnotationAssertion(Annotation( ) "Moon face") +AnnotationAssertion(Annotation( ) "Puffy face") AnnotationAssertion( "Puffy facies") AnnotationAssertion(rdfs:comment "Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease.") AnnotationAssertion(rdfs:label "Moon facies") @@ -210315,9 +210308,9 @@ SubClassOf( "Abnormal results of exercise on heart function.") AnnotationAssertion(dc:date "2017-05-12T16:41:01Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Abnormal exercise test") +AnnotationAssertion(Annotation( ) "Abnormal exercise test") AnnotationAssertion( "Abnormal cardiac exercise test") -AnnotationAssertion(Annotation( ) "Abnormal treadmill test") +AnnotationAssertion(Annotation( ) "Abnormal treadmill test") AnnotationAssertion(rdfs:label "Abnormal cardiac exercise stress test") SubClassOf( ) @@ -210884,7 +210877,7 @@ SubClassOf( "PMID:27069254") Annotation( "PMID:27069841") "Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.") AnnotationAssertion(dc:date "2018-04-27T19:35:00Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Food allergy") +AnnotationAssertion(Annotation( ) "Food allergy") AnnotationAssertion( "IgE-mediated food allergy") AnnotationAssertion( "Immunoglobulin E-mediated food allergy") AnnotationAssertion(rdfs:label "Food allergy") @@ -211015,8 +211008,8 @@ SubClassOf( "Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.") AnnotationAssertion(dc:date "2018-06-25T15:40:37Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Positive urine marijuana test") -AnnotationAssertion(Annotation( ) "Postive urine pot test") +AnnotationAssertion(Annotation( ) "Positive urine marijuana test") +AnnotationAssertion(Annotation( ) "Postive urine pot test") AnnotationAssertion(Annotation( "PMID:21134021") rdfs:comment "Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH).") AnnotationAssertion(rdfs:label "Positive urine cannabinoid test") SubClassOf( ) @@ -211086,7 +211079,7 @@ SubClassOf( ) "A decreased amount of valine in the blood.") AnnotationAssertion(dc:date "2018-10-01T14:47:05Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood valine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood valine concentration") AnnotationAssertion(rdfs:label "Hypovalinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211096,8 +211089,8 @@ SubClassOf( ) "An decreased concentration of tyrosine in the blood.") AnnotationAssertion(dc:date "2018-10-01T15:01:56Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tyrosine in blood") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood tyrosine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tyrosine in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood tyrosine concentration") AnnotationAssertion(rdfs:label "Hypotyrosinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211107,8 +211100,8 @@ SubClassOf( ) "An increased amount of tryptophan in the blood.") AnnotationAssertion(dc:date "2018-10-01T15:09:12Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "High blood tryptophan concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased tryptophan in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood tryptophan concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased tryptophan in blood") AnnotationAssertion(rdfs:label "Hypertryptophanemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211118,8 +211111,8 @@ SubClassOf( ) "A decreased amount of tryptophan in the blood.") AnnotationAssertion(dc:date "2018-10-01T15:10:31Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tryptophan in blood") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood tryptophan concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased tryptophan in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood tryptophan concentration") AnnotationAssertion(rdfs:label "Hypotryptophanemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211130,8 +211123,8 @@ AnnotationAssertion(Annotation( "2018-10-01T16:07:19Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Decreased circulating threonine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased threonine blood levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood threonine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased threonine blood levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood threonine concentration") AnnotationAssertion(rdfs:label "Hypothreoninemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211142,8 +211135,8 @@ AnnotationAssertion( "2018-10-01T16:54:02Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "Elevated circulating serine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood serine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased serine blood concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood serine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased serine blood concentration") AnnotationAssertion(rdfs:label "Hyperserinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211153,8 +211146,8 @@ SubClassOf( ) "A decreased amount of proline in the blood.") AnnotationAssertion(dc:date "2018-10-03T19:35:50Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood proline levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood proline concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood proline levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood proline concentration") AnnotationAssertion(rdfs:label "Hypoprolinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211164,8 +211157,8 @@ SubClassOf( "PMID:4690509") "A decreased amount of hydroxyproline in the blood.") AnnotationAssertion(dc:date "2018-10-03T19:43:23Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( "PMID:4690509") Annotation( ) "Decreased hydroxyproline in the blood") -AnnotationAssertion(Annotation( "PMID:4690509") Annotation( ) "Low level of hydroxyproline in the blood") +AnnotationAssertion(Annotation( "PMID:4690509") Annotation( ) "Decreased hydroxyproline in the blood") +AnnotationAssertion(Annotation( "PMID:4690509") Annotation( ) "Low level of hydroxyproline in the blood") AnnotationAssertion(rdfs:label "Decreased circulating hydroxyproline concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211175,8 +211168,8 @@ SubClassOf( ) "A decreased amount of phenylalanine in the blood.") AnnotationAssertion(dc:date "2018-10-03T19:58:21Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood phenylalanine") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood phenylalanine") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood phenylalanine") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood phenylalanine") AnnotationAssertion(rdfs:label "Hypophenylalaninemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211186,8 +211179,8 @@ SubClassOf( ) "A decreased amount of lysine in the blood.") AnnotationAssertion(dc:date "2018-10-03T20:04:58Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood lysine") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood lysine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood lysine") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood lysine levels") AnnotationAssertion(rdfs:label "Hypolysinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211197,8 +211190,8 @@ SubClassOf( ) "Decreased amount of leucine in the blood.") AnnotationAssertion(dc:date "2018-10-04T13:17:00Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood concentration of leucine") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood leucine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood concentration of leucine") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood leucine levels") AnnotationAssertion(rdfs:label "Hypoleucinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211208,8 +211201,8 @@ SubClassOf( ) "A decreased amount of isoleucine in the blood.") AnnotationAssertion(dc:date "2018-10-04T13:22:24Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood isoleucine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood isoleucine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood isoleucine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood isoleucine levels") AnnotationAssertion(rdfs:label "Hypoisoleucinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211219,8 +211212,8 @@ SubClassOf( ) "A decreased amount of histidine in the blood.") AnnotationAssertion(dc:date "2018-10-04T13:28:34Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood histidine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood histidine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood histidine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood histidine levels") AnnotationAssertion(rdfs:label "Hypohistidinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211230,8 +211223,8 @@ SubClassOf( ) "Decreased amount of glutamine in the blood.") AnnotationAssertion(dc:date "2018-10-04T14:11:16Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood glutamine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood glutamine level") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood glutamine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood glutamine level") AnnotationAssertion(rdfs:label "Hypoglutaminemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211251,8 +211244,8 @@ AnnotationAssertion(Annotation( "2018-10-04T14:29:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "HP:0410068") -AnnotationAssertion(Annotation( ) Annotation( ) "High blood glutamate levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood glutamate concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood glutamate levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood glutamate concentration") AnnotationAssertion( "Increased level of L-glutamic acid in blood") AnnotationAssertion(Annotation( "PMID:22949847") rdfs:comment "Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L.") AnnotationAssertion(rdfs:label "Hyperglutamatemia") @@ -211264,8 +211257,8 @@ SubClassOf( "PMID:22949847") "A decreased amount of glutamate in the blood.") AnnotationAssertion(dc:date "2018-10-04T14:29:47Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood glutamate concentrations") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood glutamate levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood glutamate concentrations") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood glutamate levels") AnnotationAssertion(Annotation( "PMID:22949847") rdfs:comment "Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L.") AnnotationAssertion(rdfs:label "Hypoglutamatemia") SubClassOf( ) @@ -211275,8 +211268,8 @@ SubClassOf( ) "An increased amount of cystine in the blood.") AnnotationAssertion(dc:date "2018-10-04T14:59:26Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "High blood cystine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood cystine concentraions") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood cystine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood cystine concentraions") AnnotationAssertion(rdfs:label "Hypercystinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211286,8 +211279,8 @@ SubClassOf( ) "A decreased amount of cystine in the blood.") AnnotationAssertion(dc:date "2018-10-04T14:59:36Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood cystine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cystine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood cystine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cystine levels") AnnotationAssertion(rdfs:label "Hypocystinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211297,8 +211290,8 @@ SubClassOf( ) "An increased amount of arginine levels in the blood.") AnnotationAssertion(dc:date "2018-10-05T14:45:02Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "High blood arginine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood arginine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood arginine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood arginine concentration") AnnotationAssertion(rdfs:label "Hyperargininemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211308,8 +211301,8 @@ SubClassOf( ) "A decreased amount of alanine in the blood.") AnnotationAssertion(dc:date "2018-10-05T14:55:51Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood alanine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood alanine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood alanine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood alanine levels") AnnotationAssertion(rdfs:label "Hypoalaninemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211330,8 +211323,8 @@ SubClassOf( ) "An increased amount of asparagine in the blood.") AnnotationAssertion(dc:date "2018-10-05T15:12:27Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "High blood asaparagine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood asparagine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood asaparagine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood asparagine concentration") AnnotationAssertion(rdfs:label "Hyperasparaginemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211341,8 +211334,8 @@ SubClassOf( ) "A decreased amount of asparagine in the blood.") AnnotationAssertion(dc:date "2018-10-05T15:12:38Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood asparagine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood asparagine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood asparagine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood asparagine levels") AnnotationAssertion(rdfs:label "Hypoasparaginemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211363,8 +211356,8 @@ SubClassOf( "PMID:7353275") "An increased concentration of aspartic acid in the blood circulation.") AnnotationAssertion(dc:date "2018-10-05T15:38:23Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "High blood aspartic acid levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood aspartic acid") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood aspartic acid levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood aspartic acid") AnnotationAssertion( "Increased level of circulating aspartic acid") AnnotationAssertion(rdfs:label "Increased circulating aspartic acid concentration") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) @@ -211386,8 +211379,8 @@ SubClassOf( ) "An increased amount of carnosine in the blood.") AnnotationAssertion(dc:date "2018-10-05T16:07:32Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "High blood carnosine levels") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood carnosine concenrtation") +AnnotationAssertion(Annotation( ) Annotation( ) "High blood carnosine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood carnosine concenrtation") AnnotationAssertion(rdfs:label "Increased level of carnosine in blood") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211397,8 +211390,8 @@ SubClassOf( ) "A decreased amount of carnosine in bood.") AnnotationAssertion(dc:date "2018-10-05T16:11:06Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood carnosine concentration") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood carnosine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood carnosine concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood carnosine levels") AnnotationAssertion(rdfs:label "Decreased level of carnosine in blood") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211408,8 +211401,8 @@ SubClassOf( ) "An abnormal decrease in ornithine in the blood.") AnnotationAssertion(dc:date "2018-10-12T13:25:49Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood ornithine concentrations") -AnnotationAssertion(Annotation( ) Annotation( ) "Low blood ornithine levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood ornithine concentrations") +AnnotationAssertion(Annotation( ) Annotation( ) "Low blood ornithine levels") AnnotationAssertion(rdfs:label "Hypoornithinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211419,8 +211412,8 @@ SubClassOf( ) "An abnormality of carbon dioxide (CO2) in the arterial blood.") AnnotationAssertion(dc:date "2018-10-17T15:09:16Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal CO2 levels in blood") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood carbon dioxide level") +AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal CO2 levels in blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood carbon dioxide level") AnnotationAssertion(rdfs:label "Abnormal blood carbon dioxide level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211430,9 +211423,9 @@ SubClassOf( ) "An abnormality of the partial pressure of oxygen in the arterial blood.") AnnotationAssertion(dc:date "2018-10-17T15:14:35Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal O2 blood concentration") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal O2 blood concentration") AnnotationAssertion(Annotation( ) "Abnormal blood O2 level") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood oxygen levels") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal blood oxygen levels") AnnotationAssertion(rdfs:label "Abnormal blood oxygen level") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -211452,8 +211445,8 @@ SubClassOf( ) "An elevated amount of gastrin in the blood.") AnnotationAssertion(dc:date "2018-11-05T18:51:20Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) Annotation( ) "Elevated gastrin in the blood") -AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood gastrin") +AnnotationAssertion(Annotation( ) Annotation( ) "Elevated gastrin in the blood") +AnnotationAssertion(Annotation( ) Annotation( ) "Increased blood gastrin") AnnotationAssertion(rdfs:label "Hypergastrinemia") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))) ObjectSomeValuesFrom( )))) SubClassOf( ) @@ -212457,7 +212450,7 @@ SubClassOf( "HPO_CONTRIBUTOR:ucbasharo") "Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.") AnnotationAssertion(dc:date "2017-08-03T19:50:21Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion(Annotation( ) "Flat wart") +AnnotationAssertion(Annotation( ) "Flat wart") AnnotationAssertion(rdfs:label "Verruca plana") SubClassOf( ) @@ -212689,8 +212682,8 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2015-08-07T00:13:17Z") AnnotationAssertion( "UMLS:C4073228") AnnotationAssertion( "Abnormality of buccal mucosa") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cheek mucosa") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of inside lining of cheek") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cheek mucosa") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of inside lining of cheek") AnnotationAssertion( "HP:3000019") AnnotationAssertion(rdfs:label "Abnormal buccal mucosa morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -212870,11 +212863,11 @@ AnnotationAssertion( ) AnnotationAssertion( "2015-08-07T00:27:26Z") AnnotationAssertion( "UMLS:C4073242") -AnnotationAssertion(Annotation( ) "Abnormality of cartilage of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cartilage of septum of nose") +AnnotationAssertion(Annotation( ) "Abnormality of cartilage of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormality of cartilage of septum of nose") AnnotationAssertion(Annotation( ) "Anomaly of cartilage of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of cartilage of nasal septum") -AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of cartilage of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Deformity of cartilage of nasal septum") +AnnotationAssertion(Annotation( ) Annotation( ) "Malformation of cartilage of nasal septum") AnnotationAssertion( "HP:3000034") AnnotationAssertion(rdfs:label "Abnormality nasal septum cartilage morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -212899,8 +212892,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2015-08-07T00:36:02Z") AnnotationAssertion( "UMLS:C4073244") -AnnotationAssertion(Annotation( ) "Abnormality of blood vessel of head") -AnnotationAssertion(Annotation( ) "Abnormality of head blood vessel") +AnnotationAssertion(Annotation( ) "Abnormality of blood vessel of head") +AnnotationAssertion(Annotation( ) "Abnormality of head blood vessel") AnnotationAssertion( "Abnormality of vasculature of head") AnnotationAssertion( "HP:3000036") AnnotationAssertion(rdfs:label "Abnormal head blood vessel morphology") @@ -212914,8 +212907,8 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2015-08-07T00:36:06Z") AnnotationAssertion( "UMLS:C4073245") -AnnotationAssertion(Annotation( ) "Abnormality of blood vessel of neck") -AnnotationAssertion(Annotation( ) "Abnormality of neck blood vessel") +AnnotationAssertion(Annotation( ) "Abnormality of blood vessel of neck") +AnnotationAssertion(Annotation( ) "Abnormality of neck blood vessel") AnnotationAssertion( "Abnormality of the cervical blood vessels") AnnotationAssertion( "Abnormality of the cervical vasculature") AnnotationAssertion( "Abnormality of the vasculature of the neck") @@ -212980,7 +212973,7 @@ AnnotationAssertion( ) AnnotationAssertion( "2015-08-07T01:04:39Z") AnnotationAssertion( "UMLS:C4073250") -AnnotationAssertion(Annotation( ) "Abnormality of jugular vein") +AnnotationAssertion(Annotation( ) "Abnormality of jugular vein") AnnotationAssertion( "HP:3000042") AnnotationAssertion(rdfs:label "Abnormal jugular vein morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -212993,8 +212986,8 @@ AnnotationAssertion( ) AnnotationAssertion( "2015-08-07T01:04:44Z") AnnotationAssertion( "UMLS:C4073251") -AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal vein of face") -AnnotationAssertion(Annotation( ) "Abnormality of facial vein") +AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal vein of face") +AnnotationAssertion(Annotation( ) "Abnormality of facial vein") AnnotationAssertion( "HP:3000043") AnnotationAssertion(rdfs:label "Abnormal facial vein morphology") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) @@ -213120,7 +213113,7 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2015-08-07T01:09:07Z") AnnotationAssertion( "UMLS:C4073261") -AnnotationAssertion(Annotation( ) "Abnormality of hypopharynx") +AnnotationAssertion(Annotation( ) "Abnormality of hypopharynx") AnnotationAssertion(Annotation( ) "Abnormality of lower pharynx") AnnotationAssertion( "HP:3000053") AnnotationAssertion(rdfs:label "Abnormal hypopharynx morphology") @@ -214884,7 +214877,7 @@ SubClassOf( "A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.") AnnotationAssertion(dc:date "2023-02-19T16:40:36Z"^^xsd:dateTime) AnnotationAssertion( "Excessive tooth attrition") -AnnotationAssertion(Annotation( ) "Excessive wear and tear on teeth") +AnnotationAssertion(Annotation( ) "Excessive wear and tear on teeth") AnnotationAssertion(rdfs:label "Excessive dental attrition"@en) SubClassOf( ) diff --git a/src/ontology/imports/omo_terms.txt b/src/ontology/imports/omo_terms.txt new file mode 100644 index 000000000..438b8289a --- /dev/null +++ b/src/ontology/imports/omo_terms.txt @@ -0,0 +1 @@ +OMO:0003003