Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 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 TSEN34 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060269

http://identifiers.org/omim/612390

http://linkedlifedata.com/resource/umls/id/C2676465

http://identifiers.org/mesh/C567324

has exact synonym

non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34

TSEN34 non-syndromic pontocerebellar hypoplasia

has related synonym

PCH2C

pontocerebellar hypoplasia, type 2C

id

MONDO:0012891