Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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: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;   RDO:0003531
 xref: GARD:9659
For additional species annotation, visit the Alliance of Genome Resources.


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 syndrome type 3 ClinVar PMID:25741868 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar Annotator: match by OMIM:607364
OMIM
ClinVar
PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 PMID:17185149 PMID:21631963 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24830959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28555925 PMID:32576985 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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 null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bartter disease 9
        Bartter disease type 3 2
          Bartter Syndrome Type 3, with Hypocalciuria 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal gland hyperfunction 32
              primary hyperaldosteronism 26
                Bartter disease 9
                  Bartter disease type 3 2
                    Bartter Syndrome Type 3, with Hypocalciuria 1
paths to the root