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combined immunodeficiency due to CRAC channel dysfunction

Go to external page http://purl.obolibrary.org/obo/MONDO_0015695

A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. [ Orphanet:169090 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: immune dysfunction due to T-cell inactivation due to calcium entry defect

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:169090 (MONDO:equivalentTo)
  • UMLS:C4303571 (MONDO:equivalentTo)
  • icd11.foundation:1641826886 (MONDO:equivalentTo)
  • GARD:17048 (MONDO:GARD)
  • MEDGEN:929240 (MONDO:equivalentTo)
  • SCTID:717811007 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_immune_system_disorder, matrix_included, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, mondo_top_grouping_immune_system_disorder, harrisons_view_member, harrisons_view_hereditary_disease, orphanet_rare

exactMatch

http://identifiers.org/snomedct/717811007

http://linkedlifedata.com/resource/umls/id/C4303571

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1641826886

http://www.orpha.net/ORDO/Orphanet_169090

http://identifiers.org/medgen/929240

id

MONDO:0015695

term tracker item

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6747