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DO Term : adult spinal muscular atrophy [DOID:0050529] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
  • synonyms:
  • ICD10CM:G12.1,
  • SMA4,
  • spinal muscular atrophy 4,
  • SPINAL MUSCULAR ATROPHY, ADULT FORM,
  • 271150,
  • MESH:C563948,
  • UMLS_CUI:C1838230,
  • OMIM:271150,
  • SPINAL MUSCULAR ATROPHY, TYPE IV,
  • ORDO:83420
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Ontology

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Ontology Term --> Direct parents