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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:polycystic kidney disease 6
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Accession:DOID:0060951 term browser browse the term
Definition:An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: PKD6;   Polycystic Kidney Disease 6 with or without Polycystic Liver Disease
 alt_id: DOID:9009199
 xref: MIM:618061;   MONDO:0054842


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polycystic kidney disease 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease OMIM
ClinVar		 PMID:25741868 PMID:29706351 PMID:32631624 PMID:33129895 PMID:34177435 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19060
    Developmental Disease 14527
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        Congenital Abnormalities 7760
          Multiple Abnormalities 3824
            polycystic kidney disease 160
              autosomal dominant polycystic kidney disease 72
                polycystic kidney disease 6 1
Path 2
Term Annotations click to browse term
  disease 19060
    Developmental Disease 14527
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          monogenic disease 10703
            autosomal genetic disease 9875
              autosomal dominant disease 6533
                autosomal dominant polycystic kidney disease 72
                  polycystic kidney disease 6 1
paths to the root