ZFIN Human Disease: combined oxidative phosphorylation deficiency 30

OBO ID: DOID:0111471

Term Name:	combined oxidative phosphorylation deficiency 30		Search Ontology:
Synonyms:	COXPD30
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. https://www.ncbi.nlm.nih.gov/pubmed/27132592
References:	OMIM:616974 ORDO:478042
Ontology:	Human Disease ( DOID:0111471 )

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 30 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRMT10C	trmt10c	Combined oxidative phosphorylation deficiency 30	616974

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None