Primary Coenzyme Q10 Deficiency 9
Disease ID: disease_node_17015
Connections displayed (default: 10).
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| Dbxref | MIM:619028 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050730 |
| Data Source | DOID |
| Synonyms | COQ10D9 |
| Doid Label | primary coenzyme Q10 deficiency 9 |
| Doid Description | A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17015 |
| Doid Id | DOID_0112138 |
| Label | Primary Coenzyme Q10 Deficiency 9 |
- Outgoing r'ship
SUBCLASS_OFto/from Coenzyme Q10 Deficiency Disease(ID:disease_node_17014) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)