ZFIN Human Disease: combined oxidative phosphorylation deficiency 14

OBO ID: DOID:0111477

Term Name:	combined oxidative phosphorylation deficiency 14		Search Ontology:
Synonyms:	COXPD14
Definition:	A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (2)
References:	OMIM:614946 ORDO:319519
Ontology:	Human Disease ( DOID:0111477 )

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 14 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FARS2	fars2	Combined oxidative phosphorylation deficiency 14	614946

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None