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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:Autosomal Dominant Tubulointerstitial Kidney Disease 4
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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.


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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 OMIM:613092
ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 2
OMIM
ClinVar
PMID:16116425 PMID:19664745 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      hematopoietic system disease 1908
        anemia 429
          Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                familial juvenile hyperuricemic nephropathy 6
                  Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
paths to the root