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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:CAKUT3
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Accession:DOID:9008581 term browser browse the term
Synonyms:exact_synonym: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3;   NRIP1-RELATED CONDITION
 primary_id: OMIM:618270


show annotations for term's descendants           Sort by:
CAKUT3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558 NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4725
        urinary system disease 2401
          CAKUT 58
            CAKUT3 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4725
        urinary system disease 2401
          ureteral disease 166
            vesicoureteral reflux 70
              CAKUT 58
                CAKUT3 1
paths to the root