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ONTOLOGY REPORT - ANNOTATIONS


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
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Bartter disease type 4b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
RGD:7240710
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Bartter disease 8
        Bartter disease type 4b 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  sensorineural hearing loss 459
                    Bartter disease type 4b 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.