Update definition and xref of pontocerebellar hypoplasia type 2E

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -32425,7 +32425,7 @@ SubClassOf(obo:DOID_0060270 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0060271 (pontocerebellar hypoplasia type 2E)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/615851") obo:IAO_0000115 obo:DOID_0060271 "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/615851") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24577744/") obo:IAO_0000115 obo:DOID_0060271 "A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_incompound heterozygous mutation in the VPS53 gene on chromosome 17p13.")
 AnnotationAssertion(oboInOwl:created_by obo:DOID_0060271 "emitraka")
 AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060271 "2015-02-04T14:28:28Z")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060271 "MIM:615851")