ZFIN Human Disease: combined oxidative phosphorylation deficiency 8

OBO ID: DOID:0111479

Term Name:	combined oxidative phosphorylation deficiency 8		Search Ontology:
Synonyms:	COXPD8
Definition:	A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. https://www.ncbi.nlm.nih.gov/pubmed/21549344
References:	OMIM:614096 ORDO:319504
Ontology:	Human Disease ( DOID:0111479 )

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 8 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AARS2	aars2	Combined oxidative phosphorylation deficiency 8	614096

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None