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combined oxidative phosphorylation deficiency 57
Summary
- Synonym
-
- COXPD57
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0070430
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000863 | Central diabetes insipidus |
| HP:0003593 | Infantile onset |
| HP:0011504 | Bull's eye maculopathy |
| HP:0001522 | Death in infancy |
