diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 48f8c1eb..18251837 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -1976,6 +1976,7 @@ Declaration(Class(obo:DOID_0060996)) Declaration(Class(obo:DOID_0060997)) Declaration(Class(obo:DOID_0060998)) Declaration(Class(obo:DOID_0060999)) +Declaration(Class(obo:DOID_0061001)) Declaration(Class(obo:DOID_0070000)) Declaration(Class(obo:DOID_0070001)) Declaration(Class(obo:DOID_0070002)) @@ -41761,6 +41762,15 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0060999 "DOID:0060999") AnnotationAssertion(rdfs:label obo:DOID_0060999 "mitochondrial trifunctional protein deficiency 2"@en) SubClassOf(obo:DOID_0060999 obo:DOID_3146) +# Class: obo:DOID_0061001 (glycine encephalopathy 2) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8005589/") obo:IAO_0000115 obo:DOID_0061001 "An amino acid metabolic disorder characterized by accumulation of a large amount of glycine in body fluids that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061001 "MIM:620398") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061001 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0061001 "DOID:0061001") +AnnotationAssertion(rdfs:label obo:DOID_0061001 "glycine encephalopathy 2"@en) +SubClassOf(obo:DOID_0061001 obo:DOID_9252) + # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8) AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."@en) @@ -203731,9 +203741,9 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_9267 doid:NCIthesaurus) AnnotationAssertion(rdfs:label obo:DOID_9267 "urea cycle disorder"@en) SubClassOf(obo:DOID_9267 obo:DOID_9252) -# Class: obo:DOID_9268 (glycine encephalopathy) +# Class: obo:DOID_9268 (glycine encephalopathy 1) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia") obo:IAO_0000115 obo:DOID_9268 "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia") obo:IAO_0000115 obo:DOID_9268 "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9268 "GARD:7219") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9268 "ICD10CM:E72.51") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9268 "MESH:D020158") @@ -203748,7 +203758,7 @@ AnnotationAssertion(oboInOwl:id obo:DOID_9268 "DOID:9268") AnnotationAssertion(oboInOwl:inSubset obo:DOID_9268 doid:DO_rare_slim) AnnotationAssertion(oboInOwl:inSubset obo:DOID_9268 doid:NCIthesaurus) AnnotationAssertion(rdfs:comment obo:DOID_9268 "OMIM mapping confirmed by DO. [SN]."@en) -AnnotationAssertion(rdfs:label obo:DOID_9268 "glycine encephalopathy"@en) +AnnotationAssertion(rdfs:label obo:DOID_9268 "glycine encephalopathy 1"@en) SubClassOf(obo:DOID_9268 obo:DOID_9252) # Class: obo:DOID_9269 (maple syrup urine disease)