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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:0060952 term browser browse the term
Definition:A autosomal dominant polycystic kidney disease 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 that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO)
Synonyms:exact_synonym: PKD7
 alt_id: DOID:9006011
 xref: MIM:620056;   MONDO:0031062

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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 chr 3:15,468,291...15,519,137
Ensembl chr 3:15,468,208...15,518,941 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15337
    Developmental Disease 13372
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12497
        Congenital Abnormalities 7550
          Multiple Abnormalities 3731
            polycystic kidney disease 142
              autosomal dominant polycystic kidney disease 70
                polycystic kidney disease 7 1
Path 2
Term Annotations click to browse term
  disease 15337
    Developmental Disease 13372
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12497
        genetic disease 12196
          monogenic disease 10362
            autosomal genetic disease 9598
              autosomal dominant disease 6360
                autosomal dominant polycystic kidney disease 70
                  polycystic kidney disease 7 1
paths to the root