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 immunodeficiency, common variable, 13 combined immunodeficiency due to IKAROS deficiency Cid due to IKAROS deficiency

This is just here as a test because I lose it

Term information

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

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/medgen/905078

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

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

https://omim.org/entry/616873

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

id

MONDO:0014810