Add and update glycine encephalopathy subtypes #1395

#1395
DiseaseOntology · Oct 16, 2024 · 9e168e2 · 9e168e2
1 parent af41245
commit 9e168e2
Showing 1 changed file with 13 additions and 3 deletions.
diff --git 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)