ZFIN Human Disease: combined oxidative phosphorylation deficiency 25

OBO ID: DOID:0111468

Term Name:	combined oxidative phosphorylation deficiency 25		Search Ontology:
Synonyms:	COXPD25
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. https://www.ncbi.nlm.nih.gov/pubmed/25754315
References:	OMIM:616430 ORDO:447954
Ontology:	Human Disease ( DOID:0111468 )

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 25 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MARS2	mars2	?Combined oxidative phosphorylation deficiency 25	616430

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None