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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614116
ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy
ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE
OMIM
ClinVar
PMID:7898717 PMID:10210919 PMID:21532572 PMID:22328086 PMID:23365052 PMID:24727570 PMID:25326637 PMID:25678562 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30165906 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        Nervous System Malformations 1050
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 1 13
              hereditary sensory neuropathy type 1E 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 1 13
                  hereditary sensory neuropathy type 1E 1
paths to the root