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surfactant metabolism dysfunction, pulmonary, 5

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.
Uniprot Description A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
Mondo Term and Equivalent IDs
MONDO:0013712:  surfactant metabolism dysfunction, pulmonary, 5
UMLS:C3280574: