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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 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
 primary_id: MESH:C567772
 alt_id: OMIM:613071
For additional species annotation, visit the Alliance of Genome Resources.


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bronchiectasis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 OMIM
ClinVar
PMID:10391210 PMID:12473862 PMID:17460608 PMID:17560176 PMID:17634077 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      respiratory system disease 2878
        lower respiratory tract disease 1779
          bronchial disease 845
            bronchiectasis 50
              bronchiectasis 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                bronchiectasis 3 1
paths to the root