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Combined Immunodeficiency Due To Orai1 Deficiency (MONDO:0013007)

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

Overview

Category

immune system disorder

Ontology ID

MONDO:0013007

Internal:14046

Synonyms

CID due to ORAI1 deficiency

immunodeficiency type 9

IMD9

immune dysfunction with T-cell inactivation due to calcium entry defect 1

immunodeficiency 9

Mapped terms

DOID:0111976

GARD:0010524

MEDGEN:440578

MESH:C557826

OMIM:612782

Orphanet:317428

UMLS:C2748568

icd11.foundation:677672007

Child terms

Unknown children.

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