FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Werdnig-Hoffmann disease ID (Ontology) DOID:13137 (Human Disease)
Definition A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
Also Known As "hereditary motor neuropathy proximal type I" ; "HMN (Hereditary motor Neuropathy) Proximal type I" ; "infantile muscular atrophy" (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
 Werdnig-Hoffmann disease       1      1
 for disease ribbon | Werdnig-Hoffmann disease       1       --
 model of | Werdnig-Hoffmann disease       1       --
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  spinal muscular atrophy
   |__childhood spinal muscular atrophy
       |__Werdnig-Hoffmann disease  2 rec.
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Is a childhood spinal muscular atrophy
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Synonyms
  • "hereditary motor neuropathy proximal type I" EXACT
    "HMN (Hereditary motor Neuropathy) Proximal type I" EXACT
    "infantile muscular atrophy" EXACT
    "progressive muscular atrophy of infancy" EXACT
    "SMA1" EXACT OMO:0003012
    "Spinal muscular atrophy 1" EXACT
Secondary IDs
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GARD:7883
ICD10CM:G12.0
ICD9CM:335.0
MESH:D014897
MIM:253300
NCI:C98670
SNOMEDCT_US_2023_03_01:64383006
UMLS_CUI:C0043116