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combined oxidative phosphorylation deficiency 45
Summary
- Synonym
-
- COXPD45
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0112113
- Mondo Disease Ontology
- OMIM
