1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111474 | combined oxidative phosphorylation deficiency 1 | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. |
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. |
