Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Alpha-1 Antitrypsin Deficiency
Synonyms
Definitions

A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.
ID

http://purl.obolibrary.org/obo/NCIT_C84397
code

C84397
Contributing_Source

Cellosaurus

CPTAC

GDC

NICHD
definition

A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C177537

http://purl.obolibrary.org/obo/NCIT_C156952

http://purl.obolibrary.org/obo/NCIT_C156953

http://purl.obolibrary.org/obo/NCIT_C157529

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C157711

http://purl.obolibrary.org/obo/NCIT_C99147
Is_Value_For_GDC_Property

http://purl.obolibrary.org/obo/NCIT_C17103

http://purl.obolibrary.org/obo/NCIT_C16457
label

Alpha-1 Antitrypsin Deficiency
Maps_To

Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin
Preferred_Name

Alpha-1 Antitrypsin Deficiency
prefixIRI

NCIT:C84397
prefLabel

Alpha-1 Antitrypsin Deficiency
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0221757
subClassOf

http://purl.obolibrary.org/obo/NCIT_C28193
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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://purl.bioontology.org/ontology/MESH/D019896 MESH 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://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://www.orpha.net/ORDO/Orphanet_60 EFO 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 EFO 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