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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO OMIM NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        autoimmune disease of skin and connective tissue 181
          vitiligo 47
            hereditary spastic paraplegia 23 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Immune & Inflammatory Diseases 3504
        immune system disease 2921
          primary immunodeficiency disease 2340
            autoimmune disease 1661
              autoimmune disease of musculoskeletal system 933
                autoimmune disease of skin and connective tissue 181
                  vitiligo 47
                    hereditary spastic paraplegia 23 1
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.