Add hereditary pyropoikilocytosis

#1148
DiseaseOntology · Jan 15, 2025 · 1e7c85b · 1e7c85b
1 parent 7d6df61
commit 1e7c85b
Showing 1 changed file with 13 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2015,6 +2015,7 @@ Declaration(Class(obo:DOID_0061022))
 Declaration(Class(obo:DOID_0061023))
 Declaration(Class(obo:DOID_0061024))
 Declaration(Class(obo:DOID_0061025))
+Declaration(Class(obo:DOID_0061026))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -42227,6 +42228,18 @@ AnnotationAssertion(rdfs:label obo:DOID_0061025 "familial restrictive cardiomyop
 SubClassOf(obo:DOID_0061025 obo:DOID_397)
 SubClassOf(obo:DOID_0061025 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061026 (hereditary pyropoikilocytosis)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1191563/") obo:IAO_0000115 obo:DOID_0061026 "A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061026 "MIM:266140")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061026 "ORDO:98867")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061026 "HPP")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061026 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061026 "DOID:0061026")
+AnnotationAssertion(rdfs:label obo:DOID_0061026 "hereditary pyropoikilocytosis"@en)
+SubClassOf(obo:DOID_0061026 obo:DOID_583)
+SubClassOf(obo:DOID_0061026 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.")