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ONTOLOGY REPORT - ANNOTATIONS


Term:SHORT syndrome
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Accession:DOID:0111454 term browser browse the term
Definition:An autosomal dominant disease of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has _material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13. (DO)
Synonyms:exact_synonym: Aarskog-Ose-Pande syndrome;   LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE;   Lipodystrophy-Rieger anomaly-diabetes syndrome;   Rieger anomaly-partial lipodystrophy syndrome;   SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY
 primary_id: MESH:C537327
 alt_id: DOID:9000317;   OMIM:269880;   RDO:0003147
 xref: GARD:7633;   ORDO:3163
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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

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  disease 15602
    syndrome 5231
      SHORT syndrome 1
Path 2
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  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        acquired metabolic disease 2713
          mineral metabolism disease 416
            calcium metabolism disease 265
              calcinosis 236
                nephrocalcinosis 19
                  SHORT syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.