Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.

exactMatch

http://identifiers.org/omim/615851

http://purl.obolibrary.org/obo/DOID_0060271

http://linkedlifedata.com/resource/umls/id/C4014488

has exact synonym

non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53

VPS53 non-syndromic pontocerebellar hypoplasia

has related synonym

pontocerebellar hypoplasia, type 2E

PCH2E

id

MONDO:0014370