Visualize Submit Comment

Metadata
ID	DOID:0111471
Name	combined oxidative phosphorylation deficiency 30
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
Xrefs	OMIM:616974 ORDO:478042
Subsets	DO_rare_slim
Synonyms	COXPD30 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease