ZFIN Human Disease: combined oxidative phosphorylation deficiency 13

OBO ID: DOID:0111467

Term Name:	combined oxidative phosphorylation deficiency 13		Search Ontology:
Synonyms:	COXPD13
Definition:	A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. https://www.ncbi.nlm.nih.gov/pubmed/23084291
References:	OMIM:614932
Ontology:	Human Disease ( DOID:0111467 )

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 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PNPT1		Combined oxidative phosphorylation deficiency 13

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None