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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 4A
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Accession:DOID:0110145 term browser browse the term
Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. (DO)
Synonyms:exact_synonym: BARTS4A;   BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS;   BSND;   Bartter syndrome type 4A
 narrow_synonym: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS;   BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION
 primary_id: MESH:C566530;   RDO:0014862
 alt_id: OMIM:602522
For additional species annotation, visit the Alliance of Genome Resources.



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Bartter disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by OMIM:602522
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Bartter disease type 4a
OMIM
ClinVar
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Bartter disease 8
        Bartter disease type 4A 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  sensorineural hearing loss 609
                    Bartter disease type 4A 1
paths to the root