ZFIN Human Disease: combined oxidative phosphorylation deficiency 36

OBO ID: DOID:0111482

Term Name:	combined oxidative phosphorylation deficiency 36		Search Ontology:
Synonyms:	COXPD36
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/29576219
References:	OMIM:617950
Ontology:	Human Disease ( DOID:0111482 )

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 36 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS2	mrps2	Combined oxidative phosphorylation deficiency 36	617950

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None