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Metadata
ID DOID:0111491
Name combined oxidative phosphorylation deficiency 15
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.
https://www.ncbi.nlm.nih.gov/pubmed/21907147
Xrefs

OMIM:614947

ORDO:319524

Subsets

DO_rare_slim

Synonyms

COXPD15 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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