FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nemaline myopathy ID (Ontology) DOID:3191 (Human Disease)
Definition A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
Also Known As "Nemaline body disease" ; "nemaline rod myopathy" ; "rod body disease" (for all, see Synonyms field below)
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DO.org
Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 nemaline myopathy       4      3      1
 model of | nemaline myopathy       4       --       --
Spanning Tree (Parents/Children)
Only view relationship:
  myopathy
   |__congenital myopathy
       |__nemaline myopathy  37 rec.
           |__nemaline myopathy 1 2 rec.
           |__nemaline myopathy 2
           |__nemaline myopathy 3 7 rec.
           |__nemaline myopathy 4 6 rec.
           |__nemaline myopathy 5A 1 rec.
           |__nemaline myopathy 5B 1 rec.
           |__nemaline myopathy 5C 1 rec.
           |__nemaline myopathy 6
           |__nemaline myopathy 7 11 rec.
           |__nemaline myopathy 8 7 rec.
           |__nemaline myopathy 9 7 rec.
           |__nemaline myopathy 10 1 rec.
           |__nemaline myopathy 11
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Is a congenital myopathy
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Synonyms
  • "Nemaline body disease" EXACT
    "nemaline rod myopathy" EXACT
    "rod body disease" EXACT
    "rod myopathy" EXACT
Secondary IDs
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GARD:12033
ICD10CM:G71.21
MESH:D017696
MIM:PS161800
ORDO:607
SNOMEDCT_US_2023_03_01:75072002
UMLS_CUI:C0206157