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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 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:26537508 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bartter disease 9
        Bartter disease type 4A 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          Otorhinolaryngologic Diseases 1154
            auditory system disease 741
              Hearing Disorders 601
                Hearing Loss 597
                  sensorineural hearing loss 488
                    Bartter disease type 4A 1
paths to the root