Term Name: | combined oxidative phosphorylation deficiency 51 |
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Synonyms: | COXPD51 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. |
Ontology: | Human Disease [DOID:0112137] ( DOID:0112137 ) |