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Combined Immunodeficiency Due To Stim1 Deficiency (MONDO:0013008)

Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

Overview

Category

immune system disorder

Ontology ID

MONDO:0013008

Internal:14047

Synonyms

CID due to STIM1 deficiency

immunodeficiency type 10

IMD10

STIM1 deficiency

immune dysfunction with T-cell inactivation due to calcium entry defect 2

immunodeficiency 10

Mapped terms

DOID:0111970

GARD:0010523

MEDGEN:440575

MESH:C557827

OMIM:612783

Orphanet:317430

UMLS:C2748557

icd11.foundation:8644198

Child terms

Unknown children.

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