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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   dementia, deafness, and sensory neuropathy;   hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:16199547 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Shfl shiftless antiviral inhibitor of ribosomal frameshifting ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA ClinVar PMID:28492532 NCBI chr 8:19,408,298...19,414,084
Ensembl chr 8:19,408,333...19,413,971 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Nervous System Malformations 2383
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 1 25
              hereditary sensory neuropathy type 1E 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 1 25
                  hereditary sensory neuropathy type 1E 2
paths to the root