Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: gmppb (Xtr)
Source: DOID:0110294
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
Genes: gmppb (Xtr)
Source: DOID:0112377
Definition: A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
Genes: gmppb (Xtr)
Source: DOID:0112374
Definition: A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
Genes: gmppb (Xtr)
Source: DOID:0111233
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
Genes: gmppb (Xtr)