ZFIN Human Disease: combined oxidative phosphorylation deficiency 23

OBO ID: DOID:0111500

Term Name:	combined oxidative phosphorylation deficiency 23		Search Ontology:
Synonyms:	COXPD23
Definition:	A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. https://www.ncbi.nlm.nih.gov/pubmed/25434004
References:	OMIM:616198 ORDO:444013
Ontology:	Human Disease ( DOID:0111500 )

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 23 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GTPBP3	gtpbp3	Combined oxidative phosphorylation deficiency 23	616198

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None