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Summary Literature (0)
DOID:12120 - pulmonary alveolar proteinosis


Disease Ontology Definition:A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.

Synonyms:

Xenbase Genes : csf2rb, sftpb, sftpc, abca3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0001437 - pulmonary alveolar proteinosis

MIM:
MIM:265120 - SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
MIM:300770 - SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4
MIM:610913 - SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
MIM:610921 - SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3
MIM:614370 - SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lung disease (is_a)