Alpha 1-Antitrypsin Deficiency
Disease ID: disease_node_10038
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| Dbxref | GARD:5784, ICD10CM:E88.01, ICD9CM:273.4, MESH:D019896, MIM:613490, NCI:C84397, SNOMEDCT_US_2023_03_01:30188007, UMLS_CUI:C0221757 |
|---|---|
| Subclassof | DOID_2345 |
| Data Source | DOID, MESH |
| Synonyms | AAT deficiency |
| Mesh Id | D019896 |
| Mesh Label | alpha 1-Antitrypsin Deficiency |
| Mesh Subclassof | D008107, D013352, D008171, D030342 |
| Doid Label | alpha 1-antitrypsin deficiency |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_10038 |
| Doid Id | DOID_13372 |
| Label | Alpha 1-Antitrypsin Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Plasma Protein Metabolism Disease(ID:disease_node_17495) (Disease)