Primary Coenzyme Q10 Deficiency 5
Disease ID: disease_node_17019
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| Dbxref | MIM:614654, ORDO:319678 |
|---|---|
| Subclassof | DOID_0050730 |
| Data Source | DOID |
| Synonyms | COQ10D5, coenzyme Q10 deficiency, primary, 5, encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| Doid Label | primary coenzyme Q10 deficiency 5 |
| Doid Description | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. |
| Disease Node Id | disease_node_17019 |
| Doid Id | DOID_0070242 |
| Disease Has Basis In | SO_0001537 |
| Label | Primary Coenzyme Q10 Deficiency 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Coenzyme Q10 Deficiency Disease(ID:disease_node_17014) (Disease)