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Add congenital amegakaryocytic thrombocytopenia subtype
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Issue #1396
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csbjohnson committed Oct 22, 2024
1 parent 9e168e2 commit 4c18b17
Showing 1 changed file with 11 additions and 0 deletions.
11 changes: 11 additions & 0 deletions src/ontology/doid-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -1977,6 +1977,7 @@ Declaration(Class(obo:DOID_0060997))
Declaration(Class(obo:DOID_0060998))
Declaration(Class(obo:DOID_0060999))
Declaration(Class(obo:DOID_0061001))
Declaration(Class(obo:DOID_0061002))
Declaration(Class(obo:DOID_0070000))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070002))
Expand Down Expand Up @@ -41771,6 +41772,16 @@ 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_0061002 (congenital amegakaryocytic thrombocytopenia 2)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28559357/") obo:IAO_0000115 obo:DOID_0061002 "A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061002 "MIM:620481")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061002 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0061002 "DOID:0061002")
AnnotationAssertion(rdfs:label obo:DOID_0061002 "congenital amegakaryocytic thrombocytopenia 2"@en)
SubClassOf(obo:DOID_0061002 obo:DOID_1588)
SubClassOf(obo:DOID_0061002 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# 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)
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