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DO Term : juvenile spinal muscular atrophy [DOID:12376] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
  • synonyms:
  • Spinal Muscular Atrophy Type 3,
  • OMIM:253400,
  • DOID:13161,
  • ICD9CM:335.11,
  • Kugelberg-Welander disease,
  • SNOMEDCT_US_2023_03_01:54280009,
  • Type III Spinal Muscular Atrophy,
  • NCI:C118847,
  • MESH:D014897,
  • SMA3,
  • UMLS_CUI:C0152109,
  • 253400
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents