About: pontocerebellar hypoplasia type 1E

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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 type 1 nodeID://b50946511
label	pontocerebellar hypoplasia type 1E
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112330
database_cross_reference	OMIM:619303
has_exact_synonym	PCH1E
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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 SLC25A46 on chromosome 5q22.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946512

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