| Metadata | |
|---|---|
| ID | DOID:0070145 |
| Name | hereditary sensory and autonomic neuropathy type 5 |
| Definition | A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. https://www.ncbi.nlm.nih.gov/pubmed/14976160, https://www.ncbi.nlm.nih.gov/pubmed/77656 |
| Xrefs |
SNOMEDCT_US_2023_03_01:128206006 SNOMEDCT_US_2023_03_01:403605007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hereditary sensory and autonomic neuropathy type V [EXACT] HSAN5 [EXACT] |
| Parent Relationships |