Term Name: | combined oxidative phosphorylation deficiency 20 |
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Synonyms: | COXPD20 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. |
Ontology: | Human Disease [DOID:0111478] ( DOID:0111478 ) |