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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:pneumothorax
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Accession:DOID:1673 term browser browse the term
Definition:A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. (DO)
Synonyms:exact_synonym: pressure pneumothorax;   spontaneous pneumothorax;   tension pneumothorax
 primary_id: MESH:D011030
 xref: ICD10CM:J93.1
For additional species annotation, visit the Alliance of Genome Resources.



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pneumothorax term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spontaneous pneumothorax
CTD
ClinVar
PMID:12204536 PMID:25741868 PMID:28492532 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:20526373 RGD:4145332 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
primary spontaneous pneumothorax term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO ClinVar Annotator: match by term: Pneumothorax, primary spontaneous OMIM
ClinVar
PMID:12204536 PMID:12471204 PMID:12843323 PMID:14627671 PMID:15657874 More... NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      respiratory system disease 3410
        lower respiratory tract disease 2242
          pleural disease 114
            pneumothorax 2
              Catamenial Pneumothorax 0
              Pulmonary Bullae Causing Pneumothorax 0
              hemopneumothorax 0
              primary spontaneous pneumothorax 1
              spontaneous tension pneumothorax 0
              tuberculous pneumothorax 0
paths to the root