Update aniridia and add aniridia 1

Prompted by similarity to foveal hypoplasia 1 in #1283 & #1290
DiseaseOntology · Jan 31, 2024 · 377f664 · 377f664
1 parent f7cbd7b
commit 377f664
Showing 1 changed file with 25 additions and 3 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2441,6 +2441,7 @@ Declaration(Class(obo:DOID_0070528))
 Declaration(Class(obo:DOID_0070529))
 Declaration(Class(obo:DOID_0070530))
 Declaration(Class(obo:DOID_0070531))
+Declaration(Class(obo:DOID_0070532))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -47758,6 +47759,18 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070531 "UMLS_CUI:C5190596")
 SubClassOf(obo:DOID_0070531 obo:DOID_5679)
 SubClassOf(obo:DOID_0070531 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0070532 (aniridia 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://eyewiki.org/Aniridia") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12721955/") obo:IAO_0000115 obo:DOID_0070532 "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070532 "OMIM:106210")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070532 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070532 "DOID:0070532")
+AnnotationAssertion(rdfs:comment obo:DOID_0070532 "PAX6 gene variation may result in a number of different eye diseases, including foveal hypoplasia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all [JAB, 2024-01-23].")
+AnnotationAssertion(rdfs:label obo:DOID_0070532 "aniridia 1")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070532 "OMIM:106210")
+SubClassOf(obo:DOID_0070532 obo:DOID_12271)
+SubClassOf(obo:DOID_0070532 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # Class: obo:DOID_0080000 (muscular disease)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")
@@ -116310,22 +116323,31 @@ SubClassOf(obo:DOID_12270 obo:DOID_5614)
 
 # Class: obo:DOID_12271 (aniridia)
 
-AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/aniridia") obo:IAO_0000115 obo:DOID_12271 "An iris disease that is characterized by a complete or partial absence of the colored part of the eye.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007640) Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/aniridia/") obo:IAO_0000115 obo:DOID_12271 "An iris disease that is characterized by a complete or partial absence of the colored part of the eye.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "GARD:5816")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "ICD10CM:Q13.1")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "ICD9CM:743.45")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "MESH:D015783")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "NCI:C84563")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "OMIM:106210")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "OMIM:PS106210")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "ORDO:250923")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "SNOMEDCT_US_2023_03_01:69278003")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12271 "UMLS_CUI:C0003076")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12271 "Aplasia of iris"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12271 "isolated aniridia")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_12271 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_12271 "DOID:12271")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_12271 doid:DO_rare_slim)
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_12271 doid:NCIthesaurus)
-AnnotationAssertion(rdfs:comment obo:DOID_12271 "OMIM mapping confirmed by DO. [SN].")
 AnnotationAssertion(rdfs:label obo:DOID_12271 "aniridia")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "GARD:5816")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "ICD10CM:Q13.1")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "ICD9CM:743.45")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "MESH:D015783")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "NCI:C84563")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "OMIM:PS106210")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "ORDO:250923")
+AnnotationAssertion(skos:exactMatch obo:DOID_12271 "UMLS_CUI:C0003076")
 SubClassOf(obo:DOID_12271 obo:DOID_240)
 
 # Class: obo:DOID_12273 (anisometropia)