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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 1
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Accession:DOID:9007051 term browser browse the term
Definition:This disease is an adult-onset, slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported.
Synonyms:exact_synonym: ADMCKD2;   ADTKD1;   Familial Gouty Nephropathy;   Familial Juvenile Hyperuricemic Nephropathy 1;   GOUTY NEPHROPATHY, FAMILIAL JUVENILE;   Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria;   HNFJ1;   Hyperuricemic Nephropathy, Familial Juvenile 1;   Juvenile Gout;   MCKD2;   Medullary Cystic Kidney Disease 2;   Medullary Cystic Kidney Disease Type II;   UMOD-RELATED CONDITION;   UMOD-associated kidney disease;   UMOD-related kidney disease;   familial gout-kidney disease;   familial nephropathy with gout;   medullary cystic kidney disease 2, autosomal dominant;   uromodulin storage disease;   uromodulin-associated kidney disease
 narrow_synonym: FAMILIAL JUVENILE GOUT
 primary_id: MESH:C537696
 alt_id: MESH:C548033;   MESH:C563693;   MIM:162000
 xref: EFO:0008618


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Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO ClinVar Annotator: match by term: Uromodulin-associated kidney disease ClinVar PMID:25741868 NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377 		JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease OMIM
ClinVar
RGD		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302 		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 1 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone inflammation disease 1560
              arthropathy 1539
                arthritis 1108
                  gout 28
                    Autosomal Dominant Tubulointerstitial Kidney Disease 1 2
paths to the root