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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:17634077, PMID:18507830, PMID:19462466, PMID:21956615, PMID:22995991, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      respiratory system disease 2744
        bronchial disease 792
          bronchiectasis 49
            bronchiectasis 3 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                bronchiectasis 3 1
paths to the root

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