OBO ID: DOID:13372 |
Term Name: | alpha 1-antitrypsin deficiency | Search Ontology: | |
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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. (4) | ||
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Ontology: | Human Disease ( DOID:13372 ) |
OTHER alpha 1-antitrypsin deficiency PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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mnu102Tg | standard conditions | Yip et al., 2018 |
PHENOTYPE
No data available
CITATIONS (1)
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