Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: ADTKD;   FJHN;   GCKD;   HNFJ;   MCKD;   autosomal dominant tubulointerstitial kidney disease;   glomerulocystic kidney disease;   hereditary interstitial kidney disease;   medullary cystic kidney disease;   tubulointerstitial nephritis
 xref: OMIM:PS162000;   ORDO:209886;   ORDO:217330
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
familial juvenile hyperuricemic nephropathy 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: Autosomal dominant tubulointerstitial kidney disease ClinVar PMID:12161522 PMID:17878605 PMID:25536396 PMID:25700310 PMID:25741868 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Ren renin ISS OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease ClinVar NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
JBrowse link
G Umod uromodulin ISS
ISO
OMIM:162000 | OMIM:613092 | OMIM:614227
ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease
MouseDO
ClinVar
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 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
ClinVar Annotator: match by term: Familial juvenile gout
ClinVar Annotator: match by term: MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT
OMIM
ClinVar
RGD
PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc1 mucin 1, cell surface associated ISO DNA:mutation::
ClinVar Annotator: match by term: Medullary cystic kidney disease 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:174000
ClinVar
CTD
OMIM
RGD
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864 PMID:23396133 RGD:7244289 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 4 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:16116425 PMID:19664745 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 5 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 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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 chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        hyperuricemia 30
          familial juvenile hyperuricemic nephropathy 6
            Autosomal Dominant Tubulointerstitial Kidney Disease 1 1
            Autosomal Dominant Tubulointerstitial Kidney Disease 2 1
            Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
            Autosomal Dominant Tubulointerstitial Kidney Disease 5 1
            Familial Juvenile Hyperuricemic Nephropathy 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                familial juvenile hyperuricemic nephropathy 6
                  Autosomal Dominant Tubulointerstitial Kidney Disease 1 1
                  Autosomal Dominant Tubulointerstitial Kidney Disease 2 1
                  Autosomal Dominant Tubulointerstitial Kidney Disease 4 1
                  Autosomal Dominant Tubulointerstitial Kidney Disease 5 1
                  Familial Juvenile Hyperuricemic Nephropathy 3 1
paths to the root