OBO ID: DOID:13137
Term Name: Werdnig-Hoffmann disease Search Ontology:
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
  • NCI:C98670
  • OMIM:253300
  • SNOMEDCT_US_2023_03_01:64383006
  • UMLS_CUI:C0043116
Ontology: Human Disease   ( DOID:13137 )
Relationships
is a type of:
OTHER Werdnig-Hoffmann disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMN1 Spinal muscular atrophy-1 253300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.