Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Autosomal Dominant Tubulointerstitial Kidney Disease 4
go back to main search page
Accession:DOID:9005373 term browser browse the term
Synonyms:exact_synonym: ADTKD4;   HNFJ2;   REN-related kidney disease;   early-onset hyperuricemia, anemia, and progressive kidney failure;   familial juvenile hyperuricemic nephropathy 2
 primary_id: MESH:C567760
 alt_id: OMIM:613092
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Autosomal Dominant Tubulointerstitial Kidney Disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 OMIM
ClinVar
PMID:16116425 PMID:19664745 PMID:25741868 PMID:28492532 PMID:32750457 More... NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      hematopoietic system disease 2848
        anemia 666
          Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5232
                familial juvenile hyperuricemic nephropathy 7
                  Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
paths to the root