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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


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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 term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16116425 PMID:19664745 PMID:21084044 PMID:21473025 PMID:22095942 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 21122
    disease of anatomical entity 18162
      hematopoietic system disease 3324
        anemia 773
          Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
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
                familial juvenile hyperuricemic nephropathy 8
                  Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
paths to the root