| Metadata | |
|---|---|
| ID | DOID:0070158 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070158 Copy |
| Name | hereditary sensory neuropathy type 1E |
| Definition | A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/21532572 |
| Xrefs |
SNOMEDCT_US_2025_09_01:860812002 |
| SKOS |
exactMatch MIM:614116 exactMatch ORDO:456318 exactMatch NCI:C214873 exactMatch UMLS_CUI:C3279885 exactMatch GARD:11927 exactMatch MESH:C580162 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type 1E [EXACT] hereditary sensory and autonomic neuropathy type IE [EXACT] hereditary sensory neuropathy type IE [EXACT] HSAN1E [EXACT] HSN1E [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |