Term Name: | combined oxidative phosphorylation deficiency 42 |
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Synonyms: | COXPD42 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. |
Ontology: | Human Disease [DOID:0112118] ( DOID:0112118 ) |