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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 and autonomic neuropathy type 7
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Accession:DOID:0070149 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: HSAN VII;   HSAN7;   congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis;   hereditary sensory and autonomic neuropathy, type VII
 primary_id: OMIM:615548
 alt_id: RDO:9000992
 xref: GARD:12723;   ICD10CM:G60.8;   NCI:C125388;   ORDO:391397
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory and autonomic neuropathy type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VII OMIM
ClinVar
PMID:24036948, PMID:24207120, PMID:24776970, PMID:25118027, PMID:25741868, PMID:25791876, PMID:26423924, PMID:26746779, PMID:28289907, PMID:28298626, PMID:28492532, PMID:29213238, PMID:29419974, PMID:30046661, PMID:30395542, PMID:30533233, PMID:30557356, PMID:32581362 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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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 7 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 7 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.