1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111494 | combined oxidative phosphorylation deficiency 4 | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
