1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111235 | congenital muscular dystrophy-dystroglycanopathy type A12 | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. |
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. |
