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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:Dent disease
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Accession:DOID:0050699 term browser browse the term
Definition:A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. (DO)
Synonyms:exact_synonym: Dent's disease;   Dents disease
 primary_id: MESH:D057973
 xref: GARD:13105;   NCI:C123260;   OMIM:PS300009;   ORDO:1652


show annotations for term's descendants           Sort by:
Dent disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride channel, voltage-sensitive 5 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease
OMIM:300009 | OMIM:300555		 CTD
ClinVar
MouseDO		 PMID:10561751 PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 More... NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease ClinVar PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 NCBI chr  X:47,001,289...47,055,305
Ensembl chr  X:47,001,264...47,054,745 		JBrowse link
Dent Disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:7,114,228...7,114,295
Ensembl chr  X:7,114,228...7,114,295 		JBrowse link
G Mir362 microRNA 362 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:7,108,221...7,108,285
Ensembl chr  X:7,108,221...7,108,285 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:7,103,922...7,104,013
Ensembl chr  X:7,103,922...7,104,013 		JBrowse link
G Mir501 microRNA 501 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:7,107,482...7,107,590
Ensembl chr  X:7,107,482...7,107,590 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:7,114,641...7,114,736
Ensembl chr  X:7,114,641...7,114,736 		JBrowse link
Dent Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 4:124,635,620...124,695,304
Ensembl chr 4:124,635,643...124,695,304 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 More... NCBI chr  X:47,001,289...47,055,305
Ensembl chr  X:47,001,264...47,054,745 		JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 More... NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        inherited metabolic disorder 5710
          renal tubular transport disease 139
            Dent disease 8
              Dent Disease 1 6
              Dent Disease 2 2
              low molecular weight proteinuria with hypercalciuric nephrocalcinosis 1
Path 2
Term Annotations click to browse term
  disease 16107
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12830
        genetic disease 12479
          monogenic disease 10415
            X-linked monogenic disease 1356
              X-linked recessive disease 583
                Dent disease 8
                  Dent Disease 1 6
                  Dent Disease 2 2
                  low molecular weight proteinuria with hypercalciuric nephrocalcinosis 1
paths to the root