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 Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 7 7
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          neurodegenerative disease 2092
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                hereditary spastic paraplegia 120
                  hereditary spastic paraplegia 7 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.