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About:
immunodeficiency 25
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An Entity of Type :
owl:Class
, within Data Space :
demo.openlinksw.com
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
autosomal recessive disease
T cell deficiency
nodeID://b50945783
label
immunodeficiency 25
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111942
database_cross_reference
MESH:C565712
OMIM:610163
UMLS_CUI:C1857798
has_exact_synonym
IMD25
immunodeficiency due to defect in CD3-zeta
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50945784
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