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About:
immunodeficiency 10
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
autosomal recessive disease
T cell and NK cell immunodeficiency
nodeID://b50945834
label
immunodeficiency 10
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111970
database_cross_reference
MESH:C557827
OMIM:612783
ORDO:317430
UMLS_CUI:C2748557
has_exact_synonym
immune dysfunction with T-cell inactivation due to calcium entry defect 2
CID due to STIM1 deficiency
IMD10
STIM1 deficiency
combined immunodeficiency due to STIM1 deficiency
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50945835
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