About: pontocerebellar hypoplasia type 11

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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://b50946500
label	pontocerebellar hypoplasia type 11
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112324
database_cross_reference	OMIM:617695 ORDO:611247
has_exact_synonym	PCH11
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D23 on chromosome 3q12.1-q12.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946501

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