Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300770 http://purl.bioontology.org/ontology/OMIM/300770
Preferred Name	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4
Synonyms	CSF2RA DEFICIENCY PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4 SMDP4 PAP DUE TO CSF2RA DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CSF2RA DEFICIENCY PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4 SMDP4 PAP DUE TO CSF2RA DEFICIENCY
prefLabel	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4
Gene Symbol	CSF2RA SMDP4
Scope Statement	Caused by mutation in the colony-stimulating factor-2 receptor, alpha, low-affinity, granulocyte-macrophage gene (CSF2RA, 306250.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU078876 http://purl.bioontology.org/ontology/OMIM/MTHU068811 http://purl.bioontology.org/ontology/OMIM/MTHU038721 http://purl.bioontology.org/ontology/OMIM/MTHU078874 http://purl.bioontology.org/ontology/OMIM/MTHU078873 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU037872 http://purl.bioontology.org/ontology/OMIM/MTHU078875 See more See less
tui	T047
Gene Locus	Xp22.32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300770
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU061500
cui	C2677877
OMIM Entry Type	3
OMIM MimType Value	pound

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