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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.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
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, PMID:30311386 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Nervous System Malformations 1084
          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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 1 13
                  hereditary sensory neuropathy type 1E 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.