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DO Term : X-linked distal spinal muscular atrophy 3 [DOID:0111196] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
  • synonyms:
  • SMAX3,
  • ATP7A-related distal motor neuropathy,
  • X-linked distal hereditary motor neuropathy type 3,
  • ORDO:139557,
  • X-linked recessive distal spinal muscular atrophy,
  • SNOMEDCT_US_2023_03_01:766764008,
  • MESH:C564506,
  • UMLS_CUI:C1845359,
  • X-linked dHMN3,
  • X-linked dSMA3,
  • OMIM:300489,
  • 300489,
  • DSMAX
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