# pulmonary alveolar proteinosis

> lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange

**Wikidata**: [Q448698](https://www.wikidata.org/wiki/Q448698)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis)  
**Source**: https://4ort.xyz/entity/pulmonary-alveolar-proteinosis


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB
6. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
7. ABCA3 gene mutations in newborns with fatal surfactant deficiency
8. A mutation in the surfactant protein C gene associated with familial interstitial lung disease
9. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. Human Phenotype Ontology release 2018-03-08
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)