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DO Term : hereditary sensory neuropathy type 1E [DOID:0070158] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • hereditary sensory neuropathy type IE,
  • GARD:11927,
  • ICD10CM:G60.8,
  • HSN1E,
  • ORDO:456318,
  • OMIM:614116,
  • 614116
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