Search Ontology:
Human Disease

Werdnig-Hoffmann disease

Term ID
DOID:13137
Synonyms
  • hereditary motor neuropathy proximal type I
  • HMN (Hereditary motor Neuropathy) Proximal type I
  • infantile muscular atrophy
  • progressive muscular atrophy of infancy
  • SMA1
  • Spinal muscular atrophy 1
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. https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541
References
  • GARD:7883
  • ICD10CM:G12.0
  • ICD9CM:335.0
  • MESH:D014897
  • MIM:253300
  • NCI:C98670
  • SNOMEDCT_US_2023_03_01:64383006
  • UMLS_CUI:C0043116
Ontology
Human Disease   ( DOID:13137 )
Relationships
is a type of
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Genes Involved
Zebrafish Models