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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
 broad_synonym: REN-RELATED CONDITION
 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 LOC107548112 REN promoter and enhancer region IAGP ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
ClinVar Annotator: match by term: REN-related condition
ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE
ClinVar Annotator: match by term: REN-related condition | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4		 ClinVar PMID:19664745 PMID:21084044 PMID:25741868 PMID:28492532 PMID:32750457 More... NCBI chr 1:204,162,166...204,178,479 JBrowse link
G REN renin IAGP
EXP		 ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: REN-related condition | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
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		 ClinVar
CTD
OMIM		 PMID:16116425 PMID:19664745 PMID:21084044 PMID:21473025 PMID:22095942 More... NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      hematopoietic system disease 4992
        anemia 1304
          Autosomal Dominant Tubulointerstitial Kidney Disease 4 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18513
            autosomal genetic disease 16783
              autosomal dominant disease 10885
                familial juvenile hyperuricemic nephropathy 9
                  Autosomal Dominant Tubulointerstitial Kidney Disease 4 2
paths to the root