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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:Tracheobronchomalacia
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Accession:DOID:9003700 term browser browse the term
Definition:A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain.
Synonyms:exact_synonym: Chondromalacia of Trachea and Bronchi;   Tracheobronchomalacias
 primary_id: MESH:D055089
 xref: GARD:7791

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Bronchomalacia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Bronchomalacia ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 More... NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      musculoskeletal system disease 7418
        Musculoskeletal Abnormalities 3251
          Tracheobronchomalacia 2
            Bronchomalacia + 2
            tracheomalacia + 0
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      respiratory system disease 4554
        lower respiratory tract disease 2031
          bronchial disease 902
            Tracheobronchomalacia 2
              Bronchomalacia + 2
              tracheomalacia + 0
paths to the root