JSON

pancytopenia due to IKZF1 mutations

Go to external page http://purl.obolibrary.org/obo/MONDO_0014810

Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. [ MONDO:design_pattern ]

Synonyms: IKZF1 syndrome with combined immunodeficiency CVID13 syndrome with combined immunodeficiency caused by mutation in IKZF1 immunodeficiency, common variable, type 13 combined immunodeficiency due to IKAROS deficiency immunodeficiency, common variable, 13 Cid due to IKAROS deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:616873 (Orphanet:317473/e)
  • DOID:0081155 (MONDO:equivalentTo)
  • UMLS:C4225173 (MONDO:equivalentTo)
  • GARD:17442 (MONDO:GARD)
  • MEDGEN:905078 (MONDO:equivalentTo)
  • Orphanet:317473 (MONDO:equivalentTo)
  • icd11.foundation:1240674590 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, matrix_txgnn_grouping_cancer_or_benign_tumor, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_immune_system_disorder, matrix_included, nord_rare, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, mondo_top_grouping_immune_system_disorder, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_hematologic_disorder, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_hematologic_disorder, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0014810

exactMatch

http://identifiers.org/medgen/905078

http://www.orpha.net/ORDO/Orphanet_317473

http://linkedlifedata.com/resource/umls/id/C4225173

https://omim.org/entry/616873

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1240674590

http://purl.obolibrary.org/obo/DOID_0081155

id

MONDO:0014810