About: pontocerebellar hypoplasia type 13

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease pontocerebellar hypoplasia nodeID://b50946515
label	pontocerebellar hypoplasia type 13
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112332
database_cross_reference	OMIM:618606
has_exact_synonym	PCH13
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in VPS51 on chromosome 11q13.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946516

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