About: immunodeficiency 24

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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 severe combined immunodeficiency nodeID://b50945775
label	immunodeficiency 24
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111938
database_cross_reference	OMIM:615897 ORDO:420573 UMLS_CUI:C4014617
has_exact_synonym	severe combined immunodeficiency due to CTPS1 deficiency IMD24 SCID due to CTPS1 deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945776

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