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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
 alt_id: OMIM:613090


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 ISO ClinVar Annotator: match by term: Bartter disease type 4B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 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 ClinVar Annotator: match by term: Bartter disease type 4B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 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 21109
    syndrome 10708
      Bartter disease 8
        Bartter disease type 4b 2
Path 2
Term Annotations click to browse term
  disease 21109
    disease of anatomical entity 18151
      nervous system disease 13988
        Neurologic Manifestations 9971
          sensory system disease 6869
            Otorhinolaryngologic Diseases 1691
              auditory system disease 946
                Hearing Disorders 777
                  Hearing Loss 773
                    sensorineural hearing loss 589
                      Bartter disease type 4b 2
paths to the root