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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory neuropathy type 1E
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Accession:DOID:0070158 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy;   HSN IE;   HSN1E;   HSNIE;   Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss;   dementia, deafness, and sensory neuropathy;   hereditary sensory and autonomic neuropathy, type IE;   hereditary sensory neuropathy type IE;   hereditary sensory neuropathy with hearing loss and dementia
 primary_id: MESH:C580162
 alt_id: OMIM:614116;   RDO:0015895
 xref: GARD:11927;   ORDO:456318
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hereditary sensory neuropathy type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          hereditary sensory neuropathy 29
            hereditary sensory neuropathy type 1E 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              hereditary sensory neuropathy 29
                hereditary sensory neuropathy type 1E 1
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