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Fix grammatical error in def of DOID:0112330
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allenbaron committed Oct 4, 2023
1 parent a5e71f8 commit 1621e1f
Showing 1 changed file with 1 addition and 1 deletion.
2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -96016,7 +96016,7 @@ SubClassOf(obo:DOID_0112329 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0112330 (pontocerebellar hypoplasia type 1E)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26168012/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28653766/") obo:IAO_0000115 obo:DOID_0112330 "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within a weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26168012/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28653766/") obo:IAO_0000115 obo:DOID_0112330 "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0112330 "OMIM:619303")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0112330 "PCH1E")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0112330 "disease_ontology")
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