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DO Term : hereditary sensory and autonomic neuropathy type 2 [DOID:0070161] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.
  • synonyms:
  • GARD:3976,
  • SNOMEDCT_US_2023_03_01:30508001,
  • HSAN2,
  • hereditary sensory and autonomic neuropathy type II,
  • ORDO:970,
  • UMLS_CUI:C0020072,
  • MESH:D009477,
  • UMLS_CUI:C0270914,
  • MESH:D002607
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