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DO Term : hereditary sensory and autonomic neuropathy type 5 [DOID:0070145] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:128206006,
  • OMIM:608654,
  • UMLS_CUI:C0002768,
  • GARD:12328,
  • ORDO:608654,
  • MESH:D009477,
  • hereditary sensory and autonomic neuropathy type V,
  • 608654,
  • MESH:D000699,
  • HSAN5,
  • SNOMEDCT_US_2023_03_01:403605007,
  • UMLS_CUI:C0020075,
  • NCI:C156360
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