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