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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
 alt_id: OMIM:602522


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:602522
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A		 OMIM
CTD
MouseDO
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Bartter disease 9
        Bartter disease type 4A 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    sensorineural hearing loss 626
                      Bartter disease type 4A 1
paths to the root