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RGD uses the Human Disease Ontology (DO, 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 channel, voltage-sensitive Ka ISO ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:141,384,611...141,398,706
Ensembl chr 4:141,384,610...141,398,724
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO OMIM NCBI chr 4:141,404,357...141,416,055
Ensembl chr 4:141,404,353...141,416,014
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14265
    syndrome 7094
      Bartter disease 8
        Bartter disease type 4b 2
Path 2
Term Annotations click to browse term
  disease 14265
    disease of anatomical entity 13871
      nervous system disease 11380
        sensory system disease 5053
          Otorhinolaryngologic Diseases 1162
            auditory system disease 741
              Hearing Disorders 599
                Hearing Loss 595
                  sensorineural hearing loss 489
                    Bartter disease type 4b 2
paths to the root