1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110184 | Charcot-Marie-Tooth disease type 4J | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. |
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. |
