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DO Term : Werdnig-Hoffmann disease [DOID:13137] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • hereditary motor neuropathy proximal type I,
  • MESH:D014897,
  • ICD9CM:335.0,
  • 253300,
  • NCI:C98670,
  • infantile muscular atrophy,
  • Spinal muscular atrophy 1,
  • ICD10CM:G12.0,
  • HMN (Hereditary motor Neuropathy) Proximal type I,
  • GARD:7883,
  • SMA1,
  • progressive muscular atrophy of infancy,
  • SNOMEDCT_US_2023_03_01:64383006,
  • UMLS_CUI:C0043116,
  • OMIM:253300
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents