Surfactant metabolism dysfunction, pulmonary, 5

Definition

Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.

Also known as CSF2RB hereditary pulmonary alveolar proteinosis, hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB, surfactant metabolism dysfunction, pulmonary, 5, surfactant metabolism dysfunction, pulmonary, type 5 — per MONDO

Also identified as

• OMIM 614370 per MONDO
• UMLS C3280574 per MONDO