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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: 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



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:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:17878605 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease ClinVar PMID:25741868 PMID:28492532 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
PMID:20172860 PMID:21868615 PMID:23748428 PMID:25741868 PMID:28492532 More... 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 CTD Direct Evidence: marker/mechanism
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
CTD
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
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::
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MUC1-related condition | ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2
OMIM
CTD
ClinVar
RGD
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864 PMID:23396133 RGD:7244289 NCBI chr 2:174,635,989...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: 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16116425 PMID:19664745 PMID:21084044 PMID:21473025 PMID:22095942 More... 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 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 chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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 chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:27392076 PMID:28492532 PMID:28782633 PMID:33185949 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 type 3 ClinVar PMID:19639018 PMID:24897035 PMID:25536396 PMID:25741167 PMID:25741868 More... 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 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        hyperuricemia 34
          familial juvenile hyperuricemic nephropathy 8
            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 3
            Familial Juvenile Hyperuricemic Nephropathy 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                familial juvenile hyperuricemic nephropathy 8
                  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 3
                  Familial Juvenile Hyperuricemic Nephropathy 3 1
paths to the root