ZFIN Human Disease: combined oxidative phosphorylation deficiency 34

OBO ID: DOID:0111497

Term Name:	combined oxidative phosphorylation deficiency 34		Search Ontology:
Synonyms:	COXPD34 syndromic sensorineural deafness due to combined oxidative phosphorylation defect syndromic sensorineural deafness due to COXPD syndromic sensorineural hearing loss due to COXPD
Definition:	A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/25556185
References:	OMIM:617872 ORDO:457223
Ontology:	Human Disease ( DOID:0111497 )

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 34 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS7	mrps7	?Combined oxidative phosphorylation deficiency 34	617872

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None