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. https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency, http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm, http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, https://alpha1.org/what-is-alpha1/ |
Xrefs |
SNOMEDCT_US_2023_03_01:30188007 |
SKOS |
exactMatch MESH:D019896 |
Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
Synonyms |
AAT deficiency [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in exactly 1 (loss_of_function_variant and disease has location exactly 1 (gene)) |