| Metadata | |
|---|---|
| ID | DOID:13372 |
| Name | alpha 1-antitrypsin deficiency |
| 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. http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm, https://alpha1.org/what-is-alpha1/, https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:30188007 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
AAT deficiency [EXACT] |
| Parent Relationships |