Search Ontology:
Human Disease

hereditary sensory neuropathy type 1B

Term ID
DOID:0070148
Synonyms
  • hereditary sensory neuropathy type IB
  • HSAN with cough and gastroesophageal reflux
Definition
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. (2)
References
  • MESH:C564296
  • MIM:608088
  • ORDO:139564
  • SNOMEDCT_US_2023_03_01:717825008
  • UMLS_CUI:C1842586
Ontology
Human Disease   ( DOID:0070148 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations