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
Accession: DOID:0060062
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: MIM:PS162000 ; ORDO:209886 ; ORDO:217330
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Umod
uromodulin
ISS
OMIM:162000 | OMIM:613092 | OMIM:614227
MouseDO
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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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
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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 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:15983957 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:17576681 PMID:18004297 PMID:19465746 PMID:20151160 PMID:20172860 PMID:20301530 PMID:20472742 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24670410 PMID:24961278 PMID:25671765 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29100090 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30376835 PMID:30586318 PMID:30773290 PMID:30976393 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:33574344 PMID:34519781 PMID:35368791 PMID:35947615 PMID:37217505 PMID:12471200 More...
RGD:737832
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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Hnf1b
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
ClinVar
PMID:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:17878605 PMID:20378641 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31131422 PMID:33532864 PMID:35846334 More...
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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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
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Sec63
SEC63 homolog, protein translocation regulator
ISO
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
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Umod
uromodulin
ISO
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
ClinVar
PMID:20172860 PMID:21868615 PMID:23748428 PMID:25741868 PMID:28492532 PMID:28509303 PMID:28781372 PMID:29204651 PMID:30473401 PMID:30773290 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 More...
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism 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
OMIM CTD ClinVar
PMID:16116425 PMID:19664745 PMID:21084044 PMID:21473025 PMID:22095942 PMID:25741868 PMID:28492532 PMID:32750457 PMID:33532864 PMID:37283036 More...
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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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 PMID:32702746 PMID:35460704 PMID:36648309 More...
NCBI chr 6:15,717,936...15,743,376
Ensembl chr 6:9,965,118...9,990,563
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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
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
OMIM ClinVar
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
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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 PMID:26340261 PMID:27615128 PMID:28215227 PMID:28492532 PMID:33434175 More...
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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