| Metadata | |
|---|---|
| ID | DOID:0070158 |
| Name | hereditary sensory neuropathy type 1E |
| Definition | A hereditary sensory neuropathy 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory neuropathy type IE [EXACT] HSN1E [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |