About: alpha 1-antitrypsin deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	plasma protein metabolism disease nodeID://b50948939
label	alpha 1-antitrypsin deficiency
comment	OMIM mapping confirmed by DO. [SN].
has exact match	MESH:D019896
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:13372
database_cross_reference	GARD:5784 ICD10CM:E88.01 ICD9CM:273.4 MESH:D019896 NCI:C84397 OMIM:613490 SNOMEDCT_US_2021_09_01:30188007 UMLS_CUI:C0221757
has_exact_synonym	AAT deficiency (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50948944

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