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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 5
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Accession:DOID:9004877 term browser browse the term
Synonyms:exact_synonym: ADTKD5;   HNFJ4;   familial juvenile hyperuricemic nephropathy 4
 primary_id: MIM:617056


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Autosomal Dominant Tubulointerstitial Kidney Disease 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 ClinVar PMID:25741868 PMID:27291889 PMID:28492532 PMID:30270055 PMID:30349881 More... NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 OMIM
ClinVar		 PMID:25741868 PMID:27392076 PMID:28492532 PMID:28782633 PMID:33185949 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Pathologic Processes 8324
        hyperuricemia 35
          familial juvenile hyperuricemic nephropathy 9
            Autosomal Dominant Tubulointerstitial Kidney Disease 5 3
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                familial juvenile hyperuricemic nephropathy 9
                  Autosomal Dominant Tubulointerstitial Kidney Disease 5 3
paths to the root