Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc01df430e9849070cee4449d8ec1d95a> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bc01df430e9849070cee4449d8ec1d95a hasDbXref "Orphanet:2903" @default.
- Bc01df430e9849070cee4449d8ec1d95a type Axiom @default.
- Bc01df430e9849070cee4449d8ec1d95a annotatedProperty IAO_0000115 @default.
- Bc01df430e9849070cee4449d8ec1d95a annotatedSource MONDO_0008259 @default.
- Bc01df430e9849070cee4449d8ec1d95a annotatedTarget "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." @default.