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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 1
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Accession:DOID:0080526 term browser browse the term
Definition:A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. (DO)
Synonyms:exact_synonym: BESC1;   bronchiectasis with or without elevated sweat chloride 1
 related_synonym: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF;   HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
 primary_id: MESH:C567618
 alt_id: OMIM:211400
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
bronchiectasis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of
ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to
OMIM
ClinVar
PMID:1283148 PMID:1284534 PMID:1284538 PMID:1284639 PMID:1370365 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: CYSTIC FIBROSIS-LIKE SYNDROME
ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1
OMIM
ClinVar
PMID:8589714 PMID:9118951 PMID:9576123 PMID:9674649 PMID:10523338 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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 1 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 1 2
paths to the root