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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 2
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Accession:DOID:0110859 term browser browse the term
Definition:A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (DO)
Synonyms:exact_synonym: APKD2;   PKD2;   adult polycystic kidney disease type 2;   adult polycystic kidney disease, type II;   polycystic kidney disease, type 2;   polycystic kidney, type 2 autosomal dominant disease
 primary_id: OMIM:613095


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polycystic kidney disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam13a family with sequence similarity 13, member A ISO ClinVar Annotator: match by term: Polycystic kidney disease 2 ClinVar PMID:25741868 NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO
ISS		 ClinVar Annotator: match by term: Polycystic kidney disease 2
OMIM:613095		 OMIM
ClinVar
MouseDO		 PMID:8650545 PMID:9175744 PMID:9326320 PMID:9402976 PMID:9536098 More... NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        Congenital Abnormalities 7431
          Multiple Abnormalities 3609
            polycystic kidney disease 153
              autosomal dominant polycystic kidney disease 70
                polycystic kidney disease 2 2
Path 2
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              autosomal dominant disease 6164
                autosomal dominant polycystic kidney disease 70
                  polycystic kidney disease 2 2
paths to the root