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"

7 matching diseasesClear search ×

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency · CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

ORPHA:699593

Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency · CID-cancer predisposing syndrome due to AIOLOS deficiency

ORPHA:697385

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to IKZF3 deficiency · CID-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

ORPHA:699596

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

ORPHA:101092

Inherited cancer-predisposing lymphoproliferative syndrome

ORPHA:664450

Inherited cancer-predisposing syndrome

ORPHA:140162

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

ORPHA:3008