Skip to content

Commit

Permalink
Add info forgotten when creating CONDBA (DOID:0070474)
Browse files Browse the repository at this point in the history
  • Loading branch information
@allenbaron
allenbaron committed Nov 9, 2023
1 parent 7ce0c30 commit fb3c7f0
Showing 1 changed file with 3 additions and 0 deletions.
3 changes: 3 additions & 0 deletions src/ontology/doid-edit.owl
View file
Original file line number Diff line number Diff line change
Expand Up @@ -46465,16 +46465,19 @@ SubClassOf(obo:DOID_0070473 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
# Class: obo:DOID_0070474 (childhood-onset neurodegeneration with brain atrophy)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28777933/") obo:IAO_0000115 obo:DOID_0070474 "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "GARD:13658")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "OMIM:617672")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "ORDO:500180")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "SNOMEDCT_US_2023_03_01:1167373005")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "UMLS_CUI:C4540086")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "UMLS_CUI:C5567227")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070474 "CONDBA")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070474 "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070474 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070474 "DOID:0070474")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070474 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0070474 "childhood-onset neurodegeneration with brain atrophy"@en)
AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "GARD:13658")
AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "OMIM:617672")
AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "ORDO:500180")
AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "SNOMEDCT_US_2023_03_01:1167373005")
Expand Down

0 comments on commit fb3c7f0

Please sign in to comment.