Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	immunodeficiency 10
Synonyms	combined immunodeficiency due to STIM1 deficiency CID due to STIM1 deficiency STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2 IMD10
Definitions	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 the STIM1 gene on chromosome 11p15.4.
ID	http://purl.obolibrary.org/obo/DOID_0111970
database_cross_reference	OMIM:612783 ORDO:317430 UMLS_CUI:C2748557 MESH:C557827
definition	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 the STIM1 gene on chromosome 11p15.4.
has exact synonym	combined immunodeficiency due to STIM1 deficiency CID due to STIM1 deficiency STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2 IMD10
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0111970
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	immunodeficiency 10
notation	DOID:0111970
prefLabel	immunodeficiency 10
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_0080710

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/612783	Online Mendelian Inheritance in Man	LOOM