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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:Balkan nephropathy
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Accession:DOID:3052 term browser browse the term
Definition:An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. (DO)
Synonyms:exact_synonym: Balkan Endemic Nephropathy;   DEFN;   Danubian Endemic Familial Nephropathy;   nephropathia epidemica
 primary_id: MESH:D001449
 alt_id: MIM:124100
 xref: EFO:0007164;   ICD10CM:N15.0
For additional species annotation, visit the Alliance of Genome Resources.


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Balkan nephropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22071594 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5767
        Inflammation 2842
          nephritis 496
            interstitial nephritis 42
              Balkan nephropathy 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        urinary system disease 2833
          kidney disease 2581
            nephritis 496
              interstitial nephritis 42
                Balkan nephropathy 1
paths to the root