ZFIN Human Disease: combined oxidative phosphorylation deficiency 17

OBO ID: DOID:0111496

Term Name:	combined oxidative phosphorylation deficiency 17		Search Ontology:
Synonyms:	COXPD17
Definition:	A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/23849775
References:	OMIM:615440 ORDO:369913
Ontology:	Human Disease ( DOID:0111496 )

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 17 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ELAC2	elac2	Combined oxidative phosphorylation deficiency 17	615440

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None