Term Name: | combined oxidative phosphorylation deficiency 36 |
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Synonyms: | COXPD36 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. |
Ontology: | Human Disease [DOID:0111482] ( DOID:0111482 ) |