FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 4A ID (Ontology) DOID:0080102 (Human Disease)
Definition A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
Also Known As "autosomal dominant congenital myopathy 4A" ; "CFTD" ; "congenital fiber-type disproportion"
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Links to External Ontologies
DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 congenital myopathy 4A       1      3
 for disease ribbon | congenital myopathy 4A       --       2
 model of | congenital myopathy 4A       1      2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
myopathy                        |
 |__congenital myopathy_________|
 |__physical disorder___________|
                                congenital myopathy 4A  4 rec.
                                 |__X-linked congenital myopathy with fiber-type disproportion
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Is a autosomal dominant disease
physical disorder
congenital myopathy
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Synonyms
  • "autosomal dominant congenital myopathy 4A" EXACT
    "CFTD" EXACT OMO:0003012
    "congenital fiber-type disproportion" EXACT
Secondary IDs
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MIM:255310