ZFIN Human Disease: combined oxidative phosphorylation deficiency 39

OBO ID: DOID:0111475

Term Name:	combined oxidative phosphorylation deficiency 39		Search Ontology:
Synonyms:	COXPD39
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. https://www.ncbi.nlm.nih.gov/pubmed/22700954
References:	OMIM:618397
Ontology:	Human Disease ( DOID:0111475 )

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 39 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GFM2	gfm2	Combined oxidative phosphorylation deficiency 39	618397

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None