Details of Disease

General Information of Disease (ID: DISWB7P1)

Disease Name Chronic respiratory distress with surfactant metabolism deficiency
Disease Hierarchy
DISQC53I: Hereditary pulmonary alveolar proteinosis
DISWB7P1: Chronic respiratory distress with surfactant metabolism deficiency
Disease Identifiers
MONDO ID
MONDO_0016323
UMLS CUI
C5190853
MedGen ID
1679491
Orphanet ID
217566
SNOMED CT ID
783182004

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 Supportive Autosomal dominant [1]
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References

1 Surfactant dysfunction. Paediatr Respir Rev. 2011 Dec;12(4):223-9. doi: 10.1016/j.prrv.2011.01.005. Epub 2011 Mar 5.