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DO Term : hereditary sensory neuropathy type 1B [DOID:0070148] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22.
  • synonyms:
  • MESH:C564296,
  • UMLS_CUI:C1842586,
  • ORDO:139564,
  • HSAN with cough and gastroesophageal reflux,
  • 608088,
  • SNOMEDCT_US_2023_03_01:717825008,
  • hereditary sensory neuropathy type IB,
  • OMIM:608088
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