ZFIN Human Disease: combined oxidative phosphorylation deficiency 41

OBO ID: DOID:0112119

Term Name:	combined oxidative phosphorylation deficiency 41		Search Ontology:
Synonyms:	COXPD41
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. https://pubmed.ncbi.nlm.nih.gov/30283131/
References:	OMIM:618838
Ontology:	Human Disease ( DOID:0112119 )

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 41 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GATB	gatb	?Combined oxidative phosphorylation deficiency 41	618838

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None