diff --git a/src/ontology/hp-edit.owl b/src/ontology/hp-edit.owl index 71dfa51bb..aa5a0dcc8 100644 --- a/src/ontology/hp-edit.owl +++ b/src/ontology/hp-edit.owl @@ -10555,6 +10555,7 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -134226,8 +134227,8 @@ AnnotationAssertion(Annotation( "HP:0012434") AnnotationAssertion(rdfs:comment "This term may be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of three months, a child smiles in response to social interaction;. aAt the age of seven months, a child responds to the facial expressions of others;. aAnd at the age of 12 months, a child is shy around strangers.") AnnotationAssertion(rdfs:label "Delayed early-childhood social milestone development") -SubClassOf( ) SubClassOf( ) +SubClassOf( ) # Class: (Ventral shortening of foreskin) @@ -138227,9 +138228,9 @@ AnnotationAssertion(rdfs:comment "Th AnnotationAssertion(rdfs:label "Neurodevelopmental abnormality") SubClassOf( ) -# Class: (Reduced social reciprocity) +# Class: (Reduced social responsiveness) -AnnotationAssertion(Annotation( "PMID:28707360") "A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.") +AnnotationAssertion(Annotation( "PMID:28707360") Annotation( "PMID:34924788") "A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.") AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) @@ -138237,17 +138238,19 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "2014-04-03T12:52:44Z") AnnotationAssertion( "HP:0000735") +AnnotationAssertion( "HP:5200103") AnnotationAssertion( "UMLS:C4022736") AnnotationAssertion( "Impaired social interaction") AnnotationAssertion( "Impaired social interactions") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impaired social reciprocity") AnnotationAssertion(Annotation( ) "Poor social interactions") AnnotationAssertion( "Reduced friendship reciprocity") +AnnotationAssertion( "Reduced social reciprocity") AnnotationAssertion( "HP:0012760") AnnotationAssertion(rdfs:comment "Reciprocity can be assessed by determining the extent to which a child demonstrates activity similar to that of peers or of the examiner (e.g., playing the same game), shows turn-taking behavior, or recognizes the intentions of the other person and contributes to an activity that a peer or the examiner has initiated. In the diagnostic process, it may be difficult to decide whether limitations in social behavior of children with intellectual disability (ID) are due to a co-occurring autism spectrum disorder (ASD) and are often unduly attributed to the ID, a phenomenon also known as diagnostic overshadowing. This term is intended to apply to impaired social reciprocity that is not attributed to ID.") -AnnotationAssertion(rdfs:label "Reduced social reciprocity") +AnnotationAssertion(rdfs:label "Reduced social responsiveness") EquivalentClasses( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))) -SubClassOf( ) +SubClassOf( ) # Class: (Absent mastoid) @@ -148581,6 +148584,15 @@ AnnotationAssertion(Annotation( "Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity") SubClassOf( ) +# Class: (Abnormal social development) + +AnnotationAssertion(Annotation( "PMID:30623038") "A substantial lag in the ahcievement of or divergence from typical milestones in social interaction and communication skills. Social-emotional competencies in young children include helping, sharing, comforting, and exhibiting empathy and compliance.") +AnnotationAssertion(dc:creator ) +AnnotationAssertion(dc:date "2024-05-06T12:28:15Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:comment "Social-emotional delays and behavioral problems at preschool age are associated with increased risk for negative outcomes at school age, including ongoing behavior problems, psychiatric disorders, and poorer academic achievement. The development of social-emotional competencies has important consequences for young children, including the ability to make and maintain quality friendships, and peer acceptance.") +AnnotationAssertion(rdfs:label "Abnormal social development") +SubClassOf( ) + # Class: (EMG: repetitive nerve stimulation abnormality) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:UToronto_htrang") "Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.") @@ -160506,13 +160518,14 @@ SubClassOf( (Alexithymia) -AnnotationAssertion( "A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.") +AnnotationAssertion(Annotation( "PMID:34389125") "Alexithymia is characterized by an impaired ability to be aware of, explicitly identify, and describe one’s feelings.") AnnotationAssertion(dc:date "2017-09-16T12:21:45Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) +AnnotationAssertion( "HP:5200122") AnnotationAssertion(Annotation( ) "Unaware of others' emotions") +AnnotationAssertion(rdfs:comment "Whereas implicit (e.g., physiological arousal) and explicit (e.g., self-reported emotion intensity) indicators of emotional reactivity tend to be highly associated in healthy volunteers, in alexithymia there is a decoupling of implicit and explicit emotional responses Alexithymia may manifest as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.") AnnotationAssertion(rdfs:label "Alexithymia") -SubClassOf( ) -SubClassOf( ) +SubClassOf( ) # Class: (Abnormal prosody) @@ -186582,6 +186595,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) +AnnotationAssertion( "HP:5200128") AnnotationAssertion(rdfs:label "Abnormal communication") SubClassOf( ) @@ -218514,7 +218528,7 @@ AnnotationAssertion( "Reduced desire to interact with peers") AnnotationAssertion( "Reduced interest in other children") AnnotationAssertion(rdfs:label "Lack of interest in peers") -SubClassOf( ) +SubClassOf( ) # Class: (Reduced sharing of interests) @@ -218605,7 +218619,7 @@ AnnotationAssertion(dcterms:contributor ) Annotation( ) Annotation( ) Annotation( ) "Failure of normal back-and-forth conversation") AnnotationAssertion(rdfs:comment "Poor conversational reciprocity may be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable.") AnnotationAssertion(rdfs:label "Poor conversational reciprocity") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) # Class: (Ectopic tooth eruption) @@ -219936,7 +219950,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "Ignores others") AnnotationAssertion(rdfs:label "Reduced response to another's attempt to get direct attention") -SubClassOf( ) +SubClassOf( ) # Class: (Abnormal pitch) @@ -220108,7 +220122,7 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(rdfs:label "Abnormal interest in others") -SubClassOf( ) +SubClassOf( ) # Class: (Reduced social insight) @@ -220202,14 +220216,20 @@ SubClassOf( (Reduced responsiveness to social cues) -AnnotationAssertion( "Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).") +AnnotationAssertion( "A tendency to display responces to social cues that are interpreted (e.g., by family members, peers, or caregivers) as diminished compared to what would be expected based on the developmental stage and cultural context of an individual.") AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) +AnnotationAssertion( "HP:5200036") +AnnotationAssertion( "HP:5200053") +AnnotationAssertion( "HP:5200054") AnnotationAssertion( "Reduced response to social cues") +AnnotationAssertion( "Lack of response to verbal cues") +AnnotationAssertion( "Reduced responsiveness to verbal cues") +AnnotationAssertion(rdfs:comment "This term describes a behavioral abnormality and does not apply if the lack of response is assessed to be due to hearing impairment or intellectual disability.") AnnotationAssertion(rdfs:label "Reduced responsiveness to social cues") -SubClassOf( ) +SubClassOf( ) # Class: (Social disinhibition) @@ -220257,24 +220277,11 @@ AnnotationAssertion(rdfs:label "Redu SubClassOf( ) SubClassOf( ) -# Class: (Reduced responsiveness to verbal cues) - -AnnotationAssertion( "A consistent failure to respond to any verbal cues.") -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "Lack of response to verbal cues") -AnnotationAssertion(rdfs:comment "This term describes a behavioral abnormality and does not apply if the lack of response is assessed to be due to hearing impairment or intellectual disability.") -AnnotationAssertion(rdfs:label "Reduced responsiveness to verbal cues") -SubClassOf( ) +# Class: (obsolete Reduced responsiveness to verbal cues) + +AnnotationAssertion( "HP:5200028") +AnnotationAssertion(rdfs:label "obsolete Reduced responsiveness to verbal cues") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lack of expressed empathy) @@ -220436,29 +220443,17 @@ AnnotationAssertion(rdfs:comment "Ty AnnotationAssertion(rdfs:label "Resistance to trivial environmental changes") SubClassOf( ) -# Class: (Reduced nonverbal responsiveness to verbal cues) - -AnnotationAssertion( "A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue.") -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "Lack of nonverbal response to verbal cues") -AnnotationAssertion(rdfs:comment "This term describes a behavioral abnormality and does not apply if the lack of response is assessed to be due to hearing impairment or intellectual disability.") -AnnotationAssertion(rdfs:label "Reduced nonverbal responsiveness to verbal cues") -SubClassOf( ) - -# Class: (Reduced verbal responsiveness to verbal cues) - -AnnotationAssertion( "A consistent failure to verbally respond to verbal cues which are intended to elicit a verbal response.") -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "Lack of verbal response to verbal cues") -AnnotationAssertion(rdfs:comment "This term describes a behavioral abnormality and does not apply if the lack of response is assessed to be due to hearing impairment or intellectual disability.") -AnnotationAssertion(rdfs:label "Reduced verbal responsiveness to verbal cues") -SubClassOf( ) +# Class: (obsolete Reduced nonverbal responsiveness to verbal cues) + +AnnotationAssertion( "HP:5200028") +AnnotationAssertion(rdfs:label "obsolete Reduced nonverbal responsiveness to verbal cues") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) + +# Class: (obsolete Reduced verbal responsiveness to verbal cues) + +AnnotationAssertion( "HP:5200028") +AnnotationAssertion(rdfs:label "obsolete Reduced verbal responsiveness to verbal cues") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Reduced co-speech gestures) @@ -220681,12 +220676,11 @@ AnnotationAssertion(rdfs:comment "In AnnotationAssertion(rdfs:label "Reduced social smiling") SubClassOf( ) -# Class: (Reduced social responsiveness) +# Class: (obsolete Reduced social responsiveness) -AnnotationAssertion(Annotation( "PMID:34924788") "Atypically low ability to process social information and respond appropriately in interpersonal interactions") -AnnotationAssertion(rdfs:comment "This feature may be inferred based on a parent's perception that a child has difficulties interpreting social cues accurately. Attempts to quantify this feature have included the Social Responsiveness Scale. Individuals with autism spectrum disorder, social anxiety disorder, or other developmental or mental health disorders may display reduced social responsiveness") -AnnotationAssertion(rdfs:label "Reduced social responsiveness") -SubClassOf( ) +AnnotationAssertion( "HP:0012760") +AnnotationAssertion(rdfs:label "obsolete Reduced social responsiveness") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abnormal play) @@ -220759,7 +220753,7 @@ SubClassOf( "Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.") AnnotationAssertion( "Abnormality in emotional social interactions") AnnotationAssertion(rdfs:label "Abnormal social emotional interactions") -SubClassOf( ) +SubClassOf( ) # Class: (Objectification of others) @@ -220768,17 +220762,16 @@ AnnotationAssertion( "Objectification of others") SubClassOf( ) -# Class: (Difficulty communicating emotions) +# Class: (obsolete Difficulty communicating emotions) -AnnotationAssertion( "Inability or difficulty in describing one's emotions because of a lack of emotional awareness or difficulty describing felt emotions in words.") -AnnotationAssertion(rdfs:label "Difficulty communicating emotions") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "HP:0031433") +AnnotationAssertion(rdfs:label "obsolete Difficulty communicating emotions") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abnormal response to social norms) AnnotationAssertion(rdfs:label "Abnormal response to social norms") -SubClassOf( ) +SubClassOf( ) # Class: (Indifference to social norms) @@ -220819,11 +220812,11 @@ AnnotationAssertion(dcterms:contributor "Aggression toward non-caregivers") SubClassOf( ) -# Class: (Deficit applying language skills across context) +# Class: (obsolete Deficit applying language skills across context) -AnnotationAssertion(rdfs:label "Deficit applying language skills across context") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "HP:0034434") +AnnotationAssertion(rdfs:label "obsolete Deficit applying language skills across context") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abnormal rituals) @@ -220839,7 +220832,7 @@ SubClassOf( (Reduced use of language for social purposes) AnnotationAssertion(rdfs:label "Reduced use of language for social purposes") -SubClassOf( ) +SubClassOf( ) # Class: (Atypical sensory examination of objects) @@ -221125,9 +221118,9 @@ AnnotationAssertion(dcterms:contributor "Derealization") SubClassOf( ) -# Class: (Decreased facial expression reciprocity) +# Class: (Decreased facial expression mirroring) -AnnotationAssertion(Annotation( "PMID:20636189") Annotation( "PMID:21264050") Annotation( "PMID:34541953") "Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.") +AnnotationAssertion(Annotation( "PMID:20636189") Annotation( "PMID:21264050") Annotation( "PMID:34541953") "Diminished mirroring or reflection of facial expressions in another person during social interactions.") AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) @@ -221136,8 +221129,9 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "Lack of facial mirroring") +AnnotationAssertion( "Decreased facial expression reciprocity") AnnotationAssertion(rdfs:comment "Automatic mirroring of affective gestures and expressions refers to the unconscious imitation of gestures and expressions of other people during conversation. This term refers to the assessment that the affected person does not imitate gestures and expressions as much as typically expected in age-matched children.") -AnnotationAssertion(rdfs:label "Decreased facial expression reciprocity") +AnnotationAssertion(rdfs:label "Decreased facial expression mirroring") SubClassOf( ) SubClassOf( )