ZFIN Human Disease: combined oxidative phosphorylation deficiency 42

OBO ID: DOID:0112118

Term Name:	combined oxidative phosphorylation deficiency 42		Search Ontology:
Synonyms:	COXPD42
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/30283131/
References:	OMIM:618839
Ontology:	Human Disease ( DOID:0112118 )

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 42 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GATC	gatc	Combined oxidative phosphorylation deficiency 42	618839

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None