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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory and autonomic neuropathy type 6
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Accession:DOID:0070151 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. (DO)
Synonyms:exact_synonym: HSAN VI;   HSAN6;   hereditary sensory and autonomic neuropathy, type VI
 primary_id: OMIM:614653
 alt_id: RDO:9000614
 xref: ORDO:314381
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hereditary sensory and autonomic neuropathy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:7240710
RGD:8554872

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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 6 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 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.