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
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- MESH:C564296
- MIM:608088
- ORDO:139564
- SNOMEDCT_US_2023_03_01:717825008
- UMLS_CUI:C1842586
- Ontology
- Human Disease ( DOID:0070148 )
- is a type of
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Genes Involved
Zebrafish Models