Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 5
go back to main search page
Accession:DOID:0080273 term browser browse the term
Definition:A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: PKD5
 primary_id: OMIM:617610


show annotations for term's descendants           Sort by:
polycystic kidney disease 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1l DAZ interacting zinc finger protein 1-like ISO ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Multiple Abnormalities 3680
            polycystic kidney disease 157
              autosomal recessive polycystic kidney disease 42
                polycystic kidney disease 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                autosomal recessive polycystic kidney disease 42
                  polycystic kidney disease 5 1
paths to the root