Metadata | |
---|---|
ID | DOID:0070161 |
Name | hereditary sensory and autonomic neuropathy type 2 |
Definition | A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. https://www.ncbi.nlm.nih.gov/pubmed/21089229 |
Xrefs |
SNOMEDCT_US_2023_03_01:30508001 |
Subsets |
DO_rare_slim |
Synonyms |
hereditary sensory and autonomic neuropathy type II [EXACT] HSAN2 [EXACT] |
Parent Relationships |