About: immunodeficiency 62

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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	autosomal recessive disease B cell deficiency nodeID://b50945876
label	immunodeficiency 62
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111991
database_cross_reference	OMIM:618459 UMLS_CUI:C5193109
has_exact_synonym	IMD62
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in ARHGEF1 on chromosome 19q13.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945877

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