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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

GARD:11927

ICD10CM:G60.8

OMIM:614116

ORDO:456318

Subsets

DO_rare_slim

Synonyms

hereditary sensory neuropathy type IE [EXACT]

HSN1E [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hereditary sensory neuropathy

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