FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nemaline myopathy 3 ID (Ontology) DOID:0110927 (Human Disease)
Definition A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
Also Known As "autosomal dominant typical congenital myopathy 2A" ; "congenital myopathy 2A" ; "NEM3" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 nemaline myopathy 3       6      1
 for disease ribbon | nemaline myopathy 3       6       --
 model of | nemaline myopathy 3       6       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
congenital myopathy              |
 |__nemaline myopathy____________|
                                 nemaline myopathy 3  7 rec.
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Is a autosomal recessive disease
nemaline myopathy
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Synonyms
  • "autosomal dominant typical congenital myopathy 2A" EXACT
    "congenital myopathy 2A" EXACT
    "NEM3" EXACT OMO:0003012
    "nemaline myopathy 3, autosomal dominant or recessive" EXACT
Secondary IDs
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MIM:161800