1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111466 | combined oxidative phosphorylation deficiency 38 | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |