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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11896
    syndrome 5815
      Bartter disease 6
        Bartter disease type 4b 0
Path 2
Term Annotations click to browse term
  disease 11896
    disease of anatomical entity 11455
      nervous system disease 9375
        sensory system disease 4523
          Otorhinolaryngologic Diseases 1009
            auditory system disease 639
              Hearing Disorders 517
                Hearing Loss 513
                  sensorineural hearing loss 413
                    Bartter disease type 4b 0
paths to the root