adding cerebellar ataxia subtypes

DiseaseOntology · Oct 27, 2023 · fa1656a · fa1656a
1 parent a35a7d9
commit fa1656a
Showing 1 changed file with 35 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -3706,6 +3706,9 @@ Declaration(Class(obo:DOID_0081379))
 Declaration(Class(obo:DOID_0081380))
 Declaration(Class(obo:DOID_0081381))
 Declaration(Class(obo:DOID_0081382))
+Declaration(Class(obo:DOID_0081383))
+Declaration(Class(obo:DOID_0081384))
+Declaration(Class(obo:DOID_0081385))
 Declaration(Class(obo:DOID_0090001))
 Declaration(Class(obo:DOID_0090002))
 Declaration(Class(obo:DOID_0090003))
@@ -61613,6 +61616,38 @@ SubClassOf(obo:DOID_0081382 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 SubClassOf(obo:DOID_0081382 ObjectSomeValuesFrom(obo:IDO_0000664 obo:SO_0002165))
 SubClassOf(obo:DOID_0081382 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
 
+# Class: obo:DOID_0081383 (ataxia-oculomotor apraxia type 4)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25728773/") obo:IAO_0000115 obo:DOID_0081383 "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081383 "GARD:13111")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081383 "OMIM:616267")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081383 "ORDO:459033")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081383 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081383 "DOID:0081383")
+AnnotationAssertion(rdfs:label obo:DOID_0081383 "ataxia-oculomotor apraxia type 4"@en)
+SubClassOf(obo:DOID_0081383 obo:DOID_0050950)
+
+# Class: obo:DOID_0081384 (ataxia-telangiectasia-like disorder-1)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10612394/") obo:IAO_0000115 obo:DOID_0081384 "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081384 "OMIM:604391")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081384 "ORDO:251347")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081384 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081384 "DOID:0081384")
+AnnotationAssertion(rdfs:label obo:DOID_0081384 "ataxia-telangiectasia-like disorder-1"@en)
+SubClassOf(obo:DOID_0081384 obo:DOID_0050950)
+
+# Class: obo:DOID_0081385 (ataxia-telangiectasia-like disorder-2)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24911150/") obo:IAO_0000115 obo:DOID_0081385 "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081385 "OMIM:615919")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081385 "ORDO:438134")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081385 "PCNA-related progressive neurodegenerative photosensitivity syndrome")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081385 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0081385 "DOID:0081385")
+AnnotationAssertion(rdfs:label obo:DOID_0081385 "ataxia-telangiectasia-like disorder-2"@en)
+SubClassOf(obo:DOID_0081385 obo:DOID_0050950)
+
 # Class: obo:DOID_0090001 (Fraser syndrome)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16894541") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445") obo:IAO_0000115 obo:DOID_0090001 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.")