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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
acute chest syndrome  
adult respiratory distress syndrome  
Alcoholic Liver Diseases +   
alpha 1-antitrypsin deficiency  
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. (DO)
Alpha-2-Macroglobulin Deficiency 
alveolar echinococcosis  
Bacterial Lung Diseases +   
Budd-Chiari syndrome +   
capillariasis 
carboxypeptidase N deficiency  
Carnitine Palmitoyltransferase II Deficiency, Infantile  
CHOPS Syndrome  
clonorchiasis  
COACH syndrome +   
Congenital Pulmonary Lymphangiectasia 
Cyanosis and Hepatic Disease 
Cystic Adenomatoid Malformation of Lung, Congenital 
Cystic Disease of Lung  
cystic echinococcosis  
cystic fibrosis +   
dirofilariasis 
Focal Nodular Hyperplasia  
Fungal Lung Diseases +   
Glycogen Storage Disease 0, Liver  
glycogen storage disease IX +   
glycogen storage disease VI  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
Hemoptysis 
Hepatic Granuloma 
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hyperlucent lung 
immunoglobulin light chain amyloidosis  
INTERSTITIAL LUNG AND LIVER DISEASE  
interstitial lung disease +   
intrahepatic cholestasis +   
Kashani Strom Utley Syndrome 
Liver Abscess +   
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
lung abscess 
Lung Agenesis +   
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lung Injury +   
Lung Neoplasms +   
lymphangioleiomyomatosis  
macroglobulinemia +   
maple bark strippers' lung 
middle lobe syndrome  
mitochondrial DNA depletion syndrome 6  
monoclonal paraproteinemia 
newborn respiratory distress syndrome +   
obstructive lung disease +   
opisthorchiasis  
paracoccidioidomycosis +   
paragonimiasis 
Parasitic Liver Diseases +   
Parasitic Lung Diseases +   
phaeohyphomycosis +  
Phosphoenolpyruvate Carboxykinase Deficiency +   
pneumonia +   
pneumonic plague 
polyclonal hypergammaglobulinemia  
polycystic echinococcosis 
polycystic liver disease +   
Pseudo-TORCH Syndrome 2  
pulmonary alveolar microlithiasis  
pulmonary alveolar proteinosis +   
pulmonary artery disease +   
Pulmonary Atelectasis +   
pulmonary eosinophilia +   
Pulmonary Function 
Pulmonary Hemorrhage +   
pulmonary hemosiderosis 
pulmonary hypertension +   
pulmonary immaturity 
pulmonary plasma cell granuloma  
pulmonary systemic sclerosis 
pulmonary tuberculosis +   
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
respiratory failure +   
Retinohepatoendocrinologic Syndrome 
scimitar syndrome +   
serum amyloid A amyloidosis 
Severe Congenital Liver Disease  
sparganosis 
steatotic liver disease +   
syndromic microphthalmia 9  
toxocariasis +   
Trichohepatoneurodevelopmental Syndrome  
tyrosinemia type II  
visceral leishmaniasis  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: A1ATD ;   AAT deficiency ;   Alpha-1 Related Emphysema ;   Genetic Emphysema ;   Hereditary Pulmonary Emphysema ;   Inherited Emphysema ;   SERPINA1-RELATED CONDITION ;   alpha 1-antitrypsin deficiencies ;   alpha-1 protease inhibitor deficiency ;   alpha-1-antitrypsin deficiency, autosomal recessive
Narrow Synonyms: Emphysema due to AAT deficiency ;   Emphysema-cirrhosis, due to AAT deficiency ;   HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION ;   Hemorrhagic diathesis due to antithrombin Pittsburgh
Related Synonyms: 'ANTITHROMBIN' PITTSBURGH ;   PI M(HEERLEN) ;   PI M(NICHINAN) ;   PI NULL(BELLINGHAM) ;   PI NULL(CARDIFF) ;   PI NULL(DEVON) ;   PI NULL(ISOLA DI PROCIDA) ;   PI NULL(LUDWIGSHAFEN) ;   PI NULL(NEWPORT) ;   PI NULL(PROCIDA)
Primary IDs: MESH:D019896
Alternate IDs: MESH:C566273 ;   MIM:613490
Xrefs: EFO:0002946 ;   GARD:5784 ;   ICD10CM:E88.01 ;   ICD9CM:273.4 ;   MONDO:0013282 ;   NCI:C84397 ;   ORDO:60
Definition Sources: http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm "DO" "DO", https://alpha1.org/what-is-alpha1/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency "DO" "DO"

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