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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 chrNW_004936508:8,093,804...8,117,467
Ensembl chrNW_004936508:8,093,804...8,116,877 		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 chrNW_004936798:559,706...572,710
Ensembl chrNW_004936798:559,778...572,506 		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 chrNW_004936798:578,090...587,010
Ensembl chrNW_004936798:578,038...587,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14620
    Pathological Conditions, Signs and Symptoms 11549
      Pathologic Processes 7250
        hyperuricemia 28
          familial juvenile hyperuricemic nephropathy 8
            Autosomal Dominant Tubulointerstitial Kidney Disease 5 3
Path 2
Term Annotations click to browse term
  disease 14620
    Developmental Disease 12811
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12015
        genetic disease 11731
          monogenic disease 10074
            autosomal genetic disease 9665
              autosomal dominant disease 6246
                familial juvenile hyperuricemic nephropathy 8
                  Autosomal Dominant Tubulointerstitial Kidney Disease 5 3
paths to the root