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Items: 4

1.

Pneumothorax

MedGen UID:
19365
Concept ID:
C0032326
Disease or Syndrome
2.

Pneumothorax, primary spontaneous

Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). [from OMIM]

MedGen UID:
357445
Concept ID:
C1868193
Disease or Syndrome
3.

Spontaneous pneumothorax

MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
4.

Hemopneumothorax

Collection of air and blood in the pleural cavity. [from MeSH]

MedGen UID:
9208
Concept ID:
C0019077
Disease or Syndrome
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