1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112138 | primary coenzyme Q10 deficiency 9 | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
