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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:Bronchomalacia
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Accession:DOID:9008965 term browser browse the term
Definition:A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing.
Synonyms:exact_synonym: Williams-Campbell syndrome;   bronchi chondromalacia;   bronchi chondromalacias;   bronchomalacias;   chondromalacia of bronchi
 primary_id: MESH:D055091
 alt_id: MIM:211450
 xref: MONDO:0008888;   ORDO:411501


show annotations for term's descendants           Sort by:
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 chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		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 chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3457
          Tracheobronchomalacia 2
            Bronchomalacia 2
              CHITAYAT SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      respiratory system disease 5245
        lower respiratory tract disease 2354
          bronchial disease 1012
            Tracheobronchomalacia 2
              Bronchomalacia 2
                CHITAYAT SYNDROME 1
paths to the root