has material basis in germline mutation in SERPINA1 syndromic disease plasma protein metabolism disease respiratory system disorder alpha 1-antitrypsin deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency https://www.malacards.org/card/alpha_1_antitrypsin_deficiency_2 DOID:13372 Orphanet:60 alpha 1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1 Antitrypsin Deficiency icd11.foundation:824872160 A1ATD NORD:754 NCIT:C84397 hemorrhagic diathesis due to antithrombin pittsburgh OMIM:613490 MONDO:0013282 emphysema-cirrhosis, due to AAT deficiency Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. deficiency in Alpa-1-proteinase inhibitor NANDO:2100174 ICD9:273.4 NANDO:1200755 AAT deficiency A1AT deficiency MedDRA:10001806 SCTID:30188007 A1AD AATD GARD:0005784 Alpha-1 antitrypsin deficiency UMLS:C0221757 NANDO:2200611 MESH:D019896 emphysema due to AAT deficiency MEDGEN:67461 Alpha 1 antitrypsin deficiency A-1ATD obsolete nephropathy secondary to a storage or other metabolic disease