ONTOLOGY REPORT - ANNOTATIONS


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
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Bartter disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      Bartter disease 9
        Bartter disease type 4A 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  sensorineural hearing loss 438
                    Bartter disease type 4A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.