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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 17
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Accession:DOID:0110770 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: SPG17;   Silver spastic paraplegia syndrome;   Silver syndrome;   autosomal dominant spastic paraplegia 17;   autosomal dominant spastic paraplegia type 17;   dHMN5B;   distal hereditary motor neuropathy type 5B;   spastic paraplegia 17;   spastic paraplegia with amyotrophy of hands and feet;   spastic paraplegia-amyotrophy of hands and feet
 primary_id: MESH:C536644
 alt_id: OMIM:270685;   RDO:0002284
 xref: GARD:4219;   ORDO:100998
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hereditary spastic paraplegia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 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
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 17 2
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
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 17 2
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.