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Last uploaded: January 31, 2024
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Preferred Name

alpha 1-Antitrypsin Deficiency
Synonyms

Deficiency, alpha 1-Antitrypsin
Definitions

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
ID

http://purl.bioontology.org/ontology/MESH/D019896
altLabel

Deficiency, alpha 1-Antitrypsin

Deficiencies, alpha 1-Antitrypsin

alpha 1 Antitrypsin Deficiency

alpha 1-Antitrypsin Deficiencies
AN

Pi or PiZZ goes here + PHENOTYPE
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0221757
DC

1
definition

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
DX

19980101
HN

98
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D000515
Machine permutation

98
Mapped from

http://purl.bioontology.org/ontology/MESH/C566273
MDA

19970620
MMR

20130708
MN

C16.320.060

C08.381.112

C23.550.325.500.500

C06.552.074
notation

D019896
prefLabel

alpha 1-Antitrypsin Deficiency
TERMUI

T059262
TH

NLM (1998)

ORD (2010)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D008171

http://purl.bioontology.org/ontology/MESH/D008107

http://purl.bioontology.org/ontology/MESH/D013352
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http://purl.bioontology.org/ontology/MDRFRE/10083869 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D019896 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1849-1633 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003965 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10001811 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10001806 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10001811 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10001811 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/30188007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10001806 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10083869 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C3762 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-72550 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/30188007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0221757 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICPC2P/T99083 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10083869 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/273.4 ICD9CM CUI
http://purl.bioontology.org/ontology/OMIM/613490 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10001806 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.01 ICD10CM CUI
http://www.orpha.net/ORDO/Orphanet_60 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.060 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_13372 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13372 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13372 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13372 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13372 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13372 FNS-H LOOM
http://www.gamuts.net/entity#alpha_1_antitrypsin_deficiency GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIM_613490 CCO LOOM
http://purl.obolibrary.org/obo/NCIT_C84397 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.552.074 RH-MESH LOOM
http://purl.jp/bio/4/id/200906086448140812 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_2100174 NANDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_194 HRDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Alpha-1-Antitrypsin_Deficiency PEDTERM LOOM
http://purl.bioontology.org/ontology/CSP/1849-1633 CRISP LOOM
http://purl.obolibrary.org/obo/OMIT_0019865 OMIT LOOM
http://id.nlm.nih.gov/mesh/D019896 MDM LOOM
http://purl.bioontology.org/ontology/RCTV2/C376200 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10001806 MEDDRA LOOM
http://www.gamuts.net/entity#alpha1_antitrypsin_deficiency GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_1200755 NANDO LOOM
http://identifiers.org/omim/613490 REXO LOOM
http://identifiers.org/omim/613490 GEXO LOOM
http://identifiers.org/omim/613490 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221757 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083869 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84397 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_60 ORDO LOOM
http://purl.bioontology.org/ontology/RCD/C3762 RCD LOOM
http://purl.bioontology.org/ontology/SNMI/D6-72550 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/30188007 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99083 ICPC2P LOOM
http://nanbyodata.jp/ontology/NANDO_2200611 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039139 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.325.500.500 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13372 NATPRO LOOM
urn:agi-folder:alpha_1-antitrypsin_deficiency BPT LOOM
http://purl.bioontology.org/ontology/ICD9CM/273.4 ICD9CM LOOM
http://purl.bioontology.org/ontology/OMIM/613490 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0013282 KTAO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21473 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/E88.01 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D019896 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C08.381.112 RH-MESH LOOM