Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

2 matching diseasesClear search ×

Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation

Early-onset CID with low Ig due to dominant-negative IKAROS mutation · Early-onset CID with low Ig due to dominant-negative IKZF1 mutation

ORPHA:697414

Combined immunodeficiency due to dimerization defective IKAROS mutation

Combined immunodeficiency due to dimerization defective IKZF1 mutation · CID due to IKAROS dimerization defective mutation

ORPHA:695172