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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 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          paraplegia 130
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 4 8
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1719
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 4 8
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.