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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:familial juvenile hyperuricemic nephropathy
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Accession:DOID:0060062 term browser browse the term
Definition:A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (DO)
Synonyms:exact_synonym: FJHN;   HNFJ
 xref: OMIM:PS162000;   ORDO:209886;   ORDO:217330
For additional species annotation, visit the Alliance of Genome Resources.


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familial juvenile hyperuricemic nephropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISS OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Umod uromodulin ISS OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by OMIM:162000
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
OMIM
ClinVar
PMID:12205338, PMID:12471200, PMID:12629136, PMID:12634862, PMID:14531790, PMID:14569098, PMID:15589826, PMID:15983957, PMID:16135773, PMID:16883323, PMID:20172860, PMID:22117067, PMID:22693617, PMID:24670410, PMID:25741868, PMID:26467025, PMID:27729211, PMID:27795632, PMID:28492532, PMID:30376835, PMID:12471200 RGD:737832 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 2
ClinVar Annotator: match by OMIM:613092
OMIM
ClinVar
PMID:19664745, PMID:25741868, PMID:28492532 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 3 ClinVar PMID:25741868 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 4 ClinVar
OMIM
PMID:27392076 NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        hyperuricemia 20
          familial juvenile hyperuricemic nephropathy 4
            Familial Juvenile Hyperuricemic Nephropathy 1 1
            Familial Juvenile Hyperuricemic Nephropathy 2 1
            Familial Juvenile Hyperuricemic Nephropathy 3 1
            Familial Juvenile Hyperuricemic Nephropathy 4 1
Path 2
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          hyperuricemia 20
            familial juvenile hyperuricemic nephropathy 4
              Familial Juvenile Hyperuricemic Nephropathy 1 1
              Familial Juvenile Hyperuricemic Nephropathy 2 1
              Familial Juvenile Hyperuricemic Nephropathy 3 1
              Familial Juvenile Hyperuricemic Nephropathy 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.