ONTOLOGY REPORT - ANNOTATIONS


Term:SHORT Syndrome
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Accession:DOID:9000317 term browser browse the term
Synonyms:exact_synonym: LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE;   SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY
 primary_id: MESH:C537327;   RDO:0003147
 alt_id: OMIM:269880
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SHORT Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      SHORT Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        acquired metabolic disease 2671
          mineral metabolism disease 409
            calcium metabolism disease 262
              calcinosis 231
                nephrocalcinosis 19
                  SHORT Syndrome 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.