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"

6 matching diseasesClear search ×

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

ORPHA:404553

Autoinflammatory syndrome with immune deficiency

ORPHA:290839

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

ORPHA:566067

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

ORPHA:217390

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

ORPHA:619948

Immunodeficiency syndrome with autoimmunity

ORPHA:169355