FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term muscular dystrophy-dystroglycanopathy type B5 ID (Ontology) DOID:0110635 (Human Disease)
Definition A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Also Known As "congenital muscular dystrophy 1C" ; "FKRP-related congenital muscular dystrophy" ; "MDC1C" (for all, see Synonyms field below)
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 Genes
 muscular dystrophy-dystroglycanopathy type B5       1
 for disease ribbon | muscular dystrophy-dystroglycanopathy type B5       1
 model of | muscular dystrophy-dystroglycanopathy type B5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___________________
muscular dystrophy-dystroglycanopathy             |
 |__muscular dystrophy-dystroglycanopathy type B__|
                                                  muscular dystrophy-dystroglycanopathy type B5  1 rec.
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Is a autosomal recessive disease
muscular dystrophy-dystroglycanopathy type B
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Synonyms
  • "congenital muscular dystrophy 1C" EXACT
    "FKRP-related congenital muscular dystrophy" EXACT
    "MDC1C" EXACT OMO:0003012
    "MDDGB5" EXACT OMO:0003012
    "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5" EXACT
    "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT
Secondary IDs
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ICD10CM:G71.2
MIM:606612
ORDO:52428