FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term adult-onset myofibrillar myopathy 2A ID (Ontology) DOID:0080093 (Human Disease)
Definition A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
Also Known As "alpha-b crystallinopathy" ; "myofibrillar myopathy 2"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      10
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 adult-onset myofibrillar myopathy 2A      10      6      1
 ameliorates | adult-onset myofibrillar myopathy 2A       6       --       --
 exacerbates | adult-onset myofibrillar myopathy 2A       1       --       --
 for disease ribbon | adult-onset myofibrillar myopathy 2A       --       2       --
 model of | adult-onset myofibrillar myopathy 2A       3      2       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
myopathy                        |
 |__myofibrillar myopathy_______|
                                adult-onset myofibrillar myopathy 2A  17 rec.
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Is a autosomal dominant disease
myofibrillar myopathy
Part of
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Synonyms
  • "alpha-b crystallinopathy" EXACT
    "myofibrillar myopathy 2" EXACT
Secondary IDs
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MIM:608810
ORDO:399058