ZFIN Human Disease: combined oxidative phosphorylation deficiency 16

OBO ID: DOID:0111469

Term Name:	combined oxidative phosphorylation deficiency 16		Search Ontology:
Synonyms:	COXPD16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. https://www.ncbi.nlm.nih.gov/pubmed/23315540
References:	GARD:12892 OMIM:615395 ORDO:352563
Ontology:	Human Disease ( DOID:0111469 )

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 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPL44	mrpl44	Combined oxidative phosphorylation deficiency 16	615395

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None