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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 7
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Accession:DOID:9006011 term browser browse the term
Definition:An autosomal dominant nephropathy characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age. Caused by heterozygous mutation in the ALG5 gene on chromosome 13q13.
Synonyms:exact_synonym: PKD7
 primary_id: OMIM:620056


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Polycystic Kidney Disease 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase ISO ClinVar Annotator: match by term: Polycystic kidney disease 7 OMIM
ClinVar		 PMID:25741868 PMID:35896117 NCBI chr25:3,705,521...3,753,987
Ensembl chr25:3,706,423...3,753,947 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12545
        Congenital Abnormalities 7459
          Multiple Abnormalities 3645
            polycystic kidney disease 144
              autosomal dominant polycystic kidney disease 70
                Polycystic Kidney Disease 7 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12545
        genetic disease 12201
          monogenic disease 10183
            autosomal genetic disease 9394
              autosomal dominant disease 6213
                autosomal dominant polycystic kidney disease 70
                  Polycystic Kidney Disease 7 1
paths to the root