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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:391397
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hereditary sensory and autonomic neuropathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          hereditary sensory neuropathy 29
            hereditary sensory and autonomic neuropathy type 7 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              hereditary sensory neuropathy 29
                hereditary sensory and autonomic neuropathy type 7 1
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