1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111237 | congenital muscular dystrophy-dystroglycanopathy type A1 | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0112374 | muscular dystrophy-dystroglycanopathy | A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. |