About: Omenn syndrome

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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	severe combined immunodeficiency nodeID://b50938056 nodeID://b50938057
label	Omenn syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060010
database_cross_reference	GARD:8198 ICD10CM:D81.8 OMIM:603554
has_exact_synonym	combined immunodeficiency with hypereosinophilia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938058

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