Details of Disease | DrugMAP

General Information of Disease (ID: DIS5K18R)

Disease Name	Surfactant metabolism dysfunction, pulmonary, 2
Synonyms	SMDP2; pulmonary alveolar proteinosis, congenital, 2; desquamative interstitial pneumonitis due to surfactant Protein C deficiency; surfactant metabolism dysfunction, pulmonary, 2; interstitial lung disease due to surfactant Protein C deficiency
Disease Hierarchy	DISQC53I: Hereditary pulmonary alveolar proteinosis DIS5K18R: Surfactant metabolism dysfunction, pulmonary, 2
Disease Identifiers	MONDO ID MONDO_0024465 MESH ID C567048 UMLS CUI C1970470 OMIM ID 610913 MedGen ID 410078 SNOMED CT ID 1222677008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SFTPC	OTIZJD09	Definitive	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.