| Metadata | |
|---|---|
| ID | DOID:0050548 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050548 Copy |
| Name | hereditary sensory and autonomic neuropathy |
| Definition | A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom. https://pubmed.ncbi.nlm.nih.gov/31222456/, https://pubmed.ncbi.nlm.nih.gov/23931820/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:128205005 |
| SKOS |
exactMatch MIM:PS162400 exactMatch ORDO:140471 exactMatch UMLS_CUI:C0027889 exactMatch GARD:12688 exactMatch MESH:D009477 broadMatch ICD10CM:G60.8 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
hereditary sensory neuropathy [EXACT] HSAN [EXACT] HSN [EXACT] |
| Parent Relationships |
is_a neuropathy |