ZFIN Human Disease: combined oxidative phosphorylation deficiency 50

OBO ID: DOID:0112111

Term Name:	combined oxidative phosphorylation deficiency 50		Search Ontology:
Synonyms:	COXPD50
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/31039582/
References:	OMIM:619025
Ontology:	Human Disease ( DOID:0112111 )

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 50 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS25	mrps25	?Combined oxidative phosphorylation deficiency 50	619025

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None