1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080543 | hyperprolinemia type 2 | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
