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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:Bartter disease type 4b
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Accession:DOID:0110146 term browser browse the term
Definition:A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. (DO)
Synonyms:exact_synonym: BARTS4B;   BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS;   Bartter Syndrome, Infantile, with Sensorineural Deafness;   Bartter Syndrome, Type 4B;   Bartter syndrome, type 4b, digenic
 primary_id: MESH:C567762;   RDO:0012031
 alt_id: OMIM:613090
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bartter disease type 4b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter syndrome, type 4b ClinVar
OMIM
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP OMIM NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 4b ClinVar PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,023,929...16,036,205 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18996
    syndrome 7933
      Bartter disease 10
        Bartter disease type 4b 3
Path 2
Term Annotations click to browse term
  disease 18996
    disease of anatomical entity 17481
      nervous system disease 13545
        sensory system disease 5695
          Otorhinolaryngologic Diseases 1262
            auditory system disease 813
              Hearing Disorders 664
                Hearing Loss 659
                  sensorineural hearing loss 544
                    Bartter disease type 4b 3
paths to the root