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Metadata
ID DOID:0111468
Name combined oxidative phosphorylation deficiency 25
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.
https://www.ncbi.nlm.nih.gov/pubmed/25754315
Xrefs

OMIM:616430

ORDO:447954

Subsets

DO_rare_slim

Synonyms

COXPD25 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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