1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110205 | Charcot-Marie-Tooth disease dominant intermediate E | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
