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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:Medullary Sponge Kidney
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Accession:DOID:9002851 term browser browse the term
Definition:A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.
Synonyms:exact_synonym: Cacchi Ricci Disease;   Cacchi Ricci Syndrome;   Medullary Sponge Kidneys;   Precalyceal Canalicular Ectasia;   Precalyceal Canalicular Ectasias;   Sponge Kidney;   Sponge Kidneys
 primary_id: MESH:D007691;   RDO:0000163


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Medullary Sponge Kidney term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:30600684 RGD:14700919 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        urinary system disease 2833
          kidney disease 2581
            cystic kidney disease 523
              Medullary Sponge Kidney 1
                Cystic Dilatation of Renal Collecting Tubes 0
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