About: immunodeficiency 57

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

Attributes	Values
type	Class
subClassOf	autosomal recessive disease primary immunodeficiency disease nodeID://b50945803
label	immunodeficiency 57
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111952
database_cross_reference	OMIM:618108 ORDO:529977
has_exact_synonym	IMD57 immunodeficiency 57 with autoinflammation immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945804

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