Disease Description

UMLS CUI C0221757
UMLS Term Alpha 1-Antitrypsin Deficiency
MeSH ID D019896
MeSH Term alpha 1-Antitrypsin Deficiency
Disease Classes

Digestive System Diseases

Respiratory Tract Diseases

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Pathological Conditions, Signs and Symptoms

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

SERPINA1

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

5265

P01009

chr14: 94,376,747-94,390,693