ZFIN Human Disease: combined oxidative phosphorylation deficiency 11

OBO ID: DOID:0111481

Term Name:	combined oxidative phosphorylation deficiency 11		Search Ontology:
Synonyms:	COXPD11 infantile encephaloneuromyopathy due to mitochondrial translation defect
Definition:	A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. https://www.ncbi.nlm.nih.gov/pubmed/23022099
References:	OMIM:614922 ORDO:324535
Ontology:	Human Disease ( DOID:0111481 )

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 11 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RMND1	rmnd1	Combined oxidative phosphorylation deficiency 11	614922

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None