Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Bartter disease type 3
go back to main search page
Accession:DOID:0110144 term browser browse the term
Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. (DO)
Synonyms:exact_synonym: BARTS3;   Bartter Syndrome, Type 3;   Bartter syndrome, classic
 primary_id: MESH:C537653
 alt_id: OMIM:607364
 xref: GARD:9659


show annotations for term's descendants           Sort by:
Bartter disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO
ISS		 OMIM:607364
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Bartter disease 8
        Bartter disease type 3 3
          Bartter Syndrome Type 3, with Hypocalciuria 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      endocrine system disease 6719
        adrenal gland disease 280
          adrenal cortex disease 97
            adrenal gland hyperfunction 33
              primary hyperaldosteronism 27
                Bartter disease 8
                  Bartter disease type 3 3
                    Bartter Syndrome Type 3, with Hypocalciuria 1
paths to the root