ZFIN Human Disease: combined oxidative phosphorylation deficiency 7

OBO ID: DOID:0111487

Term Name:	combined oxidative phosphorylation deficiency 7		Search Ontology:
Synonyms:	COXPD7 severe C12ORF65-related combined oxidative phosphorylation defect severe C12ORF65-related COXPD
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. https://www.ncbi.nlm.nih.gov/pubmed/20598281
References:	OMIM:613559 ORDO:254930
Ontology:	Human Disease ( DOID:0111487 )

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 7 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C12orf65	mtrfr	Combined oxidative phosphorylation deficiency 7	613559

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None