About: corticosteroid-binding globulin deficiency

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

Attributes	Values
type	Class
subClassOf	monogenic disease adrenal gland disease nodeID://b50942120
label	corticosteroid-binding globulin deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090030
database_cross_reference	GARD:13101 ICD10CM:E27.8 OMIM:611489 ORDO:199247
has_exact_synonym	CBG deficiency (en) transcortin deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942121

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