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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.


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Bartter disease type 4b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride channel protein ClC-Ka ISO OMIM NCBI chr 6:75,178,914...75,192,670 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12715
    syndrome 6163
      Bartter disease 6
        Bartter disease type 4b 1
Path 2
Term Annotations click to browse term
  disease 12715
    disease of anatomical entity 12258
      nervous system disease 9999
        sensory system disease 4752
          Otorhinolaryngologic Diseases 1076
            auditory system disease 680
              Hearing Disorders 554
                Hearing Loss 550
                  sensorineural hearing loss 446
                    Bartter disease type 4b 1
paths to the root