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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
 xref: GARD:12723;   ICD10CM:G60.8;   NCI:C125388;   ORDO:391397


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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 Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 ClinVar PMID:28492532 NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HSAN VII | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VII		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24036948 PMID:24207120 More... NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 ClinVar PMID:28492532 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		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 7 3
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 7 3
paths to the root