ZFIN Human Disease: pontocerebellar hypoplasia type 12

OBO ID: DOID:0112327

Term Name:	pontocerebellar hypoplasia type 12		Search Ontology:
Synonyms:	COASY-related pontocerebellar hypoplasia PCH12
Definition:	A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/30089828/
References:	OMIM:618266 ORDO:611256
Ontology:	Human Disease ( DOID:0112327 )

Relationships

is a type of:	autosomal recessive disease pontocerebellar hypoplasia autosomal recessive disease pontocerebellar hypoplasia Show first 5 Terms

OTHER pontocerebellar hypoplasia type 12 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COASY	coasy	Pontocerebellar hypoplasia, type 12	618266

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None