About: immunodeficiency 47

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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	congenital disorder of glycosylation type II X-linked recessive disease primary immunodeficiency disease nodeID://b50945898 nodeID://b50945899
label	immunodeficiency 47
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112002
database_cross_reference	OMIM:300972 UMLS_CUI:C4310819
has_exact_synonym	immunodeficiency and hepatopathy with or without neurologic features CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945900

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