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Metadata
ID DOID:0112118
Name combined oxidative phosphorylation deficiency 42
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.
https://pubmed.ncbi.nlm.nih.gov/30283131/
Xrefs

MIM:618839

Synonyms

COXPD42 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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