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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
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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 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        bronchial disease 794
          bronchiectasis 49
            bronchiectasis 2 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                bronchiectasis 2 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.