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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:SHORT syndrome
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Accession:DOID:0111454 term browser browse the term
Definition:A syndrome 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 the PIK3R1 gene on chromosome 5q13. (DO)
Synonyms:exact_synonym: Aarskog-Ose-Pande syndrome;   Rieger anomaly-partial lipodystrophy syndrome;   lipodystrophy-Rieger anomaly-diabetes syndrome;   partial lipodystrophy with Rieger anomaly and short stature;   short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay
 primary_id: MESH:C537327
 alt_id: OMIM:269880
 xref: GARD:7633;   ORDO:3163


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Path 1
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  disease 18969
    syndrome 10886
      SHORT syndrome 1
Path 2
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  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2479
          mineral metabolism disease 917
            calcium metabolism disease 602
              calcinosis 527
                nephrocalcinosis 22
                  SHORT syndrome 1
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