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SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
|
DISO:OMIM |
|
|
Interstitial Lung Disease Due To ABCA3 Deficiency
|
DISO:MSH |
|
|
Pulmonary Alveolar Proteinosis, Congenital, 3
|
DISO:MSH |
|
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
DISO:MSH |
|
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
|
DISO:OMIM |
|
|
INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY
|
DISO:OMIM |
|
|
PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3
|
DISO:OMIM |
|
|
Normal stature (+1 SD to +2 SD)
|
DISO:OMIM |
|
|
Intraocular pressure (IOP) reduced by a value less than 15% from the pre-intervention level (EC)
|
DISO:MTH |
|
|
Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, 607840.0001)
|
DISO:OMIM |
|
|
Patient registered GP4 (COMP)S
|
DISO:MTH |
|
|
Normal to increased plasma threonine
|
DISO:OMIM |
|
|
Oculo-Respiratory Syndrome
|
DISO:NCI |
|
