ZFIN Human Disease: pontocerebellar hypoplasia type 15

OBO ID: DOID:0112326

OBO ID: DOID:0112326

Term Name:	pontocerebellar hypoplasia type 15	Search Ontology:
Synonyms:	PCH15
Definition:	A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/33220177/
References:	OMIM:619302
Ontology:	Human Disease ( DOID:0112326 )

Relationships

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

OTHER pontocerebellar hypoplasia type 15 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CDC40	cdc40	?Pontocerebellar hypoplasia, type 15	619302

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None