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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 23
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Accession:DOID:0110774 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. (DO)
Synonyms:exact_synonym: Abdallat Davis Farrage syndrome;   Abdallat syndrome;   Lison syndrome;   SPG23;   Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome;   spastic paraparesis, vitiligo, premature graying, characteristic facies;   spastic paraplegia 23;   spastic paraplegia and pigmentary abnormalities;   spastic paraplegia with pigmentary abnormalities;   spastic paraplegia, vitiligo, premature graying and characteristic facies
 primary_id: MESH:C536859
 alt_id: OMIM:270750;   RDO:0002572
 xref: GARD:336;   ORDO:101003
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hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dstyk dual serine/threonine and tyrosine protein kinase JBrowse link 13 49,195,325 49,243,327 RGD:7240710

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Path 1
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  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Pathologic Processes 5078
        Disease Attributes 465
          Facies 141
            hereditary spastic paraplegia 23 1
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 23 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.