FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital muscular dystrophy 1B ID (Ontology) DOID:0110634 (Human Disease)
Definition A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
Also Known As "CMD1B" ; "congenital muscular dystrophy type 1B" ; "MDC1B"
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__congenital muscular dystrophy__|
muscular dystrophy                 |
 |__congenital muscular dystrophy__|
                                   congenital muscular dystrophy 1B
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Is a congenital muscular dystrophy
autosomal recessive disease
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Synonyms
  • "CMD1B" EXACT OMO:0003012
    "congenital muscular dystrophy type 1B" EXACT
    "MDC1B" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G71.2
MIM:604801
ORDO:98893