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RGD uses the Human Disease Ontology (DO, 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:bronchiectasis 2
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Accession:DOID:0080527 term browser browse the term
Definition:A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. (DO)
Synonyms:exact_synonym: BESC2;   Bronchiectasis with or without Elevated Sweat Chloride 2;   IDIOPATHIC BRONCHIECTASIS
 primary_id: MESH:C567813
 alt_id: OMIM:613021
For additional species annotation, visit the Alliance of Genome Resources.

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bronchiectasis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 ClinVar PMID:25741868 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2
ClinVar Annotator: match by OMIM:613021
ClinVar Annotator: match by term: Idiopathic bronchiectasis
PMID:1506904 PMID:9654209 PMID:10403853 PMID:10523338 PMID:11978598 PMID:15734793 PMID:16249274 PMID:19462466 PMID:20194130 PMID:21889619 PMID:21917531 PMID:23149595 PMID:23392097 PMID:24033266 PMID:25741868 PMID:26668308 PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      respiratory system disease 2706
        bronchial disease 801
          bronchiectasis 49
            bronchiectasis 2 2
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal dominant disease 3032
                bronchiectasis 2 2
paths to the root