Term Name: | combined oxidative phosphorylation deficiency 57 |
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Synonyms: | COXPD57 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. |
Ontology: | Human Disease [DOID:0070430] ( DOID:0070430 ) |