ZFIN Human Disease: combined oxidative phosphorylation deficiency 20

OBO ID: DOID:0111478

Term Name:	combined oxidative phosphorylation deficiency 20		Search Ontology:
Synonyms:	COXPD20
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. https://www.ncbi.nlm.nih.gov/pubmed/25058219
References:	OMIM:615917 ORDO:420728
Ontology:	Human Disease ( DOID:0111478 )

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 20 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VARS2	vars2	Combined oxidative phosphorylation deficiency 20	615917

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None