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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: Bronchi Chondromalacia;   Bronchi Chondromalacias;   Bronchomalacias;   Chondromalacia of Bronchi
 primary_id: MESH:D055091;   RDO:0007698
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        Musculoskeletal Abnormalities 1777
          Tracheobronchomalacia 1
            Bronchomalacia 1
              CHITAYAT SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        lower respiratory tract disease 1684
          bronchial disease 794
            Tracheobronchomalacia 1
              Bronchomalacia 1
                CHITAYAT SYNDROME 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.