| 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/16311270, https://www.ncbi.nlm.nih.gov/pubmed/12870133 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717825008 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory neuropathy type IB [EXACT] HSAN with cough and gastroesophageal reflux [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has symptom some cough |