FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term infantile-onset myofibrillar myopathy-2B ID (Ontology) DOID:0080309 (Human Disease)
Definition A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
Also Known As "fatal infantile hypertonic myofibrillar myopathy" ; "MFM2B"
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DO.org
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 Genes
 infantile-onset myofibrillar myopathy-2B       2
 for disease ribbon | infantile-onset myofibrillar myopathy-2B       2
 model of | infantile-onset myofibrillar myopathy-2B       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__myofibrillar myopathy________|
                                 infantile-onset myofibrillar myopathy-2B  2 rec.
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Is a autosomal recessive disease
myofibrillar myopathy
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Synonyms
  • "fatal infantile hypertonic myofibrillar myopathy" EXACT
    "MFM2B" EXACT OMO:0003012
Secondary IDs
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MIM:613869