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Human Disease
hereditary sensory neuropathy type 1E
- Term ID
- DOID:0070158
- Synonyms
-
- hereditary sensory neuropathy type IE
- HSN1E
- 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
- References
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- GARD:11927
- ICD10CM:G60.8
- MIM:614116
- ORDO:456318
- Ontology
- Human Disease ( DOID:0070158 )
- is a type of
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Zebrafish Models