Skip to content

Commit

Permalink
Review definition of neuronal ceroid lipofuscinosis 4 for corrections
Browse files Browse the repository at this point in the history
  • Loading branch information
@csbjohnson
csbjohnson committed Jan 9, 2025
1 parent 41ec98a commit 659f5e6
Showing 1 changed file with 1 addition and 1 deletion.
2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
View file
Original file line number Diff line number Diff line change
Expand Up @@ -78808,7 +78808,7 @@ SubClassOf(obo:DOID_0110719 obo:DOID_0060237)

# Class: obo:DOID_0110720 (neuronal ceroid lipofuscinosis 4)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21820099") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22073189") obo:IAO_0000115 obo:DOID_0110720 "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21820099") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22073189") obo:IAO_0000115 obo:DOID_0110720 "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110720 "ICD10CM:E75.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110720 "MIM:162350")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110720 "ORDO:228343")
Expand Down

0 comments on commit 659f5e6

Please sign in to comment.