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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:Fused Kidney
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Accession:DOID:9004108 term browser browse the term
Definition:Congenital fusion of two kidneys.
Synonyms:exact_synonym: Cake Kidney;   Cake Kidneys;   Congenital Fusion of Kidneys;   Congenital Lobulation of Kidneys;   Crossed Fused Ectopia;   Crossed Fused Ectopia of Kidneys;   Crossed Fused Ectopias;   Fused Kidneys;   Fusion of Kidney;   Horseshoe Kidney;   Horseshoe Kidneys;   Kidney Fusion;   Kidney Fusions;   Kidney Lobulation;   Kidney Lobulations;   Lobulated Kidney;   Lobulated Kidneys;   Lobulation of Kidney;   Pelvic Cake Kidney;   Pelvic Cake Kidneys;   Renal Fusion;   Renal Fusions
 primary_id: MESH:D000069337;   RDO:0015996


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Fused Kidney term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Horseshoe kidney ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Urogenital Abnormalities 441
          Fused Kidney 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Urogenital Abnormalities 441
            Fused Kidney 1
paths to the root