| Metadata | |
|---|---|
| ID | DOID:0070157 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070157 Copy |
| Name | hereditary sensory and autonomic neuropathy type 1C |
| Definition | A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/20920666 |
| Xrefs |
SNOMEDCT_US_2025_09_01:860814001 |
| SKOS |
exactMatch MIM:613640 exactMatch UMLS_CUI:C3150896 |
| Synonyms |
hereditary sensory and autonomic neuropathy type IC [EXACT] hereditary sensory neuropathy type 1C [EXACT] hereditary sensory neuropathy type IC [EXACT] HSAN1C [EXACT] HSN1C [EXACT] |
| Parent Relationships |