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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:29389947 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 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        Nervous System Malformations 1101
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 7 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          neurodegenerative disease 3202
            Nervous System Heredodegenerative Disorders 1954
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 7 1
paths to the root