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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 4
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Accession:DOID:0110792 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: FSP2;   SPG4;   autosomal dominant spastic paraplegia 4;   autosomal dominant spastic paraplegia type 4;   familial spastic paraplegia autosomal dominant 2;   spastic paraplegia 4;   spastic paraplegia type 4
 related_synonym: SPASTIC PARAPLEGIA 4, MODIFIER OF
 primary_id: MESH:C536865;   MESH:C580456
 alt_id: DOID:9007937;   OMIM:182601;   RDO:0002578;   RDO:0015927
 xref: ORDO:100985
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Birc6 baculoviral IAP repeat-containing 6 JBrowse link 6 21,900,763 22,092,484 RGD:8554872
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit JBrowse link 6 22,296,128 22,316,894 RGD:8554872
G Ltbp1 latent transforming growth factor beta binding protein 1 JBrowse link 6 21,203,502 21,600,441 RGD:8554872
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:8554872
G Slc30a6 solute carrier family 30 member 6 JBrowse link 6 22,197,003 22,226,364 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:7240710
RGD:8554872
G Ttc27 tetratricopeptide repeat domain 27 JBrowse link 6 21,735,833 21,880,008 RGD:8554872
G Yipf4 Yip1 domain family, member 4 JBrowse link 6 22,126,870 22,138,286 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 4 8
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 4 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.