About: immunodeficiency 71

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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 combined immunodeficiency nodeID://b50945903
label	immunodeficiency 71
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112004
database_cross_reference	OMIM:617718
has_exact_synonym	IMD71 PLTEID platelet abnormalities with eosinophilia and immune-mediated inflammatory disease immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945904

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