About: immunodeficiency 21

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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 dominant disease primary immunodeficiency disease nodeID://b50945793
label	immunodeficiency 21
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111947
database_cross_reference	GARD:10934 MESH:D000077428 NCI:C126349 OMIM:614172 ORDO:228423 SNOMEDCT_US_2020_03_01:778024005
has_exact_synonym	combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections DCML GATA2 deficiency IMD21 MonoMAC monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections monocyte-B-natural killer-dendritic cell deficiency syndrome dendritic cell, monocyte, B and NK lymphoid deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945794

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