| Metadata | |
|---|---|
| ID | DOID:0070146 |
| Name | hereditary sensory neuropathy type 4 |
| Definition | A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/14272277, https://www.ncbi.nlm.nih.gov/pubmed/8696348 |
| Xrefs |
SNOMEDCT_US_2023_03_01:62985007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hereditary sensory neuropathy type IV [EXACT] insensitivity to pain, congenital, with anhidrosis [EXACT] |
| Parent Relationships |