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;   Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome;   Spastic paraplegia, vitiligo, premature graying and characteristic facies;   spastic paraplegia 23;   spastic paraplegia and pigmentary abnormalities;   spastic paraplegia with pigmentary abnormalities
 primary_id: MESH:C536859;   RDO:0002572
 alt_id: OMIM:270750
 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 14926
    Pathological Conditions, Signs and Symptoms 7745
      Pathologic Processes 4926
        Disease Attributes 446
          Facies 142
            hereditary spastic paraplegia 23 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          neurodegenerative disease 2536
            Nervous System Heredodegenerative Disorders 1610
              motor peripheral neuropathy 417
                hereditary spastic paraplegia 122
                  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.