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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:Chronic Benign Proteinuria
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Accession:DOID:9005529 term browser browse the term
Definition:An autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities.
Synonyms:exact_synonym: PROCHOB
 primary_id: OMIM:618884


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Chronic Benign Proteinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUBN cubilin ISO ClinVar Annotator: match by term: Proteinuria, chronic benign OMIM
ClinVar		 PMID:9536098 PMID:10080186 PMID:15024727 PMID:16199547 PMID:17576681 More... NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12025
      Signs and Symptoms 9902
        Urological Manifestations 411
          proteinuria 380
            Chronic Benign Proteinuria 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15149
      Urogenital Diseases 4737
        urinary system disease 2406
          kidney disease 2174
            proteinuria 380
              Chronic Benign Proteinuria 1
paths to the root