ZFIN Human Disease: combined oxidative phosphorylation deficiency 45

OBO ID: DOID:0112113

Term Name:	combined oxidative phosphorylation deficiency 45		Search Ontology:
Synonyms:	COXPD45
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/23603806/
References:	OMIM:618951
Ontology:	Human Disease ( DOID:0112113 )

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 45 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPL12	mrpl12	?Combined oxidative phosphorylation deficiency 45	618951

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None