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ONTOLOGY REPORT - ANNOTATIONS


Term:bronchiectasis 3
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Accession:DOID:0080528 term browser browse the term
Definition:A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. (DO)
Synonyms:exact_synonym: BESC3;   bronchiectasis with or without elevated sweat chloride 3
 related_synonym: cystic fibrosis-like syndrome
 primary_id: MESH:C567772
 alt_id: OMIM:613071;   RDO:0012038
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bronchiectasis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:8554872
G Ltbr lymphotoxin beta receptor JBrowse link 4 157,822,838 157,829,291 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:7240710
RGD:8554872
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      respiratory system disease 2415
        bronchial disease 661
          bronchiectasis 49
            bronchiectasis 3 5
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                bronchiectasis 3 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.