| 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. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom. https://pubmed.ncbi.nlm.nih.gov/23931820/, https://pubmed.ncbi.nlm.nih.gov/31222456/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:128205005 |
| SKOS |
exactMatch GARD:12688 exactMatch MESH:D009477 exactMatch MIM:PS162400 exactMatch ORDO:140471 exactMatch UMLS_CUI:C0027889 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 |