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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 2
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Accession:DOID:0110773 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)
Synonyms:exact_synonym: SPG2;   SPPX2;   X-linked spastic paraplegia 2;   spastic paraplegia 2;   spastic paraplegia type 2
 primary_id: MESH:C536857
 alt_id: OMIM:312920;   RDO:0002570
 xref: GARD:4923;   ORDO:99015
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:7240710
RGD:8554872
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 2 2
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          neurodegenerative disease 2953
            Nervous System Heredodegenerative Disorders 1738
              motor peripheral neuropathy 462
                hereditary spastic paraplegia 120
                  hereditary spastic paraplegia 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.