ZFIN Human Disease: combined oxidative phosphorylation deficiency 22

OBO ID: DOID:0111498

Term Name:	combined oxidative phosphorylation deficiency 22		Search Ontology:
Synonyms:	COXPD22
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. https://www.ncbi.nlm.nih.gov/pubmed/23596069
References:	OMIM:616045
Ontology:	Human Disease ( DOID:0111498 )

Relationships

is a type of:	autosomal recessive disease combined oxidative phosphorylation deficiency autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

OTHER combined oxidative phosphorylation deficiency 22 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP5F1A	atp5fa1	?Combined oxidative phosphorylation deficiency 22	616045

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None