About: immunodeficiency 54

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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 NK cell deficiency nodeID://b50945828
label	immunodeficiency 54
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111967
database_cross_reference	MESH:C566492 NCI:C123729 OMIM:609981 ORDO:75391 UMLS_CUI:C1864947
has_exact_synonym	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945829

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