Preferred Name |
alpha 1-antitrypsin deficiency |
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Synonyms |
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Definitions |
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. |
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ID |
http://purl.obolibrary.org/obo/DOID_13372 |
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definition |
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. |
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imported from | ||
label |
alpha 1-antitrypsin deficiency |
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prefixIRI |
DOID:13372 |
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prefLabel |
alpha 1-antitrypsin deficiency |
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subClassOf |
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