Term Name: | combined oxidative phosphorylation deficiency 41 |
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Synonyms: | COXPD41 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. |
Ontology: | Human Disease [DOID:0112119] ( DOID:0112119 ) |