| Metadata | |
|---|---|
| ID | DOID:0070161 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070161 Copy |
| Name | hereditary sensory and autonomic neuropathy type 2 |
| Definition | A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis. https://pubmed.ncbi.nlm.nih.gov/31222456/, https://www.ncbi.nlm.nih.gov/books/NBK49247/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:398148000 |
| SKOS |
exactMatch GARD:3976 exactMatch ORDO:970 exactMatch UMLS_CUI:C0020072 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type II [EXACT] hereditary sensory neuropathy type 2 [EXACT] hereditary sensory neuropathy type II [EXACT] HSAN2 [EXACT] HSN2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |