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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 7
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Accession:DOID:0110816 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: SPG7;   autosomal recessive spastic paraplegia 7;   hereditary spastic paraplegia, paraplegin type;   spastic paraplegia 7;   spastic paraplegia type 7
 primary_id: MESH:C564599;   MESH:C580457
 alt_id: DOID:9007344;   OMIM:607259;   RDO:0013503;   RDO:0015928
 xref: ORDO:99013
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hereditary spastic paraplegia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          paraplegia 132
            hereditary spastic paraplegia 118
              hereditary spastic paraplegia 7 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 458
                hereditary spastic paraplegia 118
                  hereditary spastic paraplegia 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.