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
• OMIM:608088
• ORDO:139564
• SNOMEDCT_US_2023_03_01:717825008
• UMLS_CUI:C1842586

Ontology

Human Disease   ( DOID:0070148 )