Visualize Submit Comment
Metadata
ID DOID:0070148
Name hereditary sensory neuropathy type 1B
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.
https://www.ncbi.nlm.nih.gov/pubmed/12870133, https://www.ncbi.nlm.nih.gov/pubmed/16311270
Xrefs

MESH:C564296

OMIM:608088

ORDO:139564

SNOMEDCT_US_2023_03_01:717825008

UMLS_CUI:C1842586

Subsets

DO_rare_slim

Synonyms

hereditary sensory neuropathy type IB [EXACT]

HSAN with cough and gastroesophageal reflux [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hereditary sensory neuropathy

Add an item to the term tracker