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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: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 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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
OMIM
ClinVar
PMID:1506904 PMID:9654209 PMID:10403853 PMID:10523338 PMID:11978598 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      respiratory system disease 2907
        lower respiratory tract disease 1796
          bronchial disease 863
            bronchiectasis 50
              bronchiectasis 2 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                bronchiectasis 2 2
paths to the root