BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

alpha 1-antitrypsin deficiency

Synonyms

AAT deficiency

Definitions

OMIM mapping confirmed by DO. [SN]. 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.

ID

http://purl.obolibrary.org/obo/DOID_13372

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:30188007

MESH:D019896

ICD9CM:273.4

UMLS_CUI:C0221757

OMIM:613490

ICD10CM:E88.01

GARD:5784

NCI:C84397

has exact match

MESH:D019896

has exact synonym

AAT deficiency

has_obo_namespace

disease_ontology

id

DOID:13372

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

label

alpha 1-antitrypsin deficiency

notation

DOID:13372

prefLabel

alpha 1-antitrypsin deficiency

textual definition

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.

subClassOf

http://purl.obolibrary.org/obo/DOID_2345

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13372 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_13372 FNS-H SAME_URI
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 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

Request New Term