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"

200 matching diseasesClear search ×

Drug-induced autoimmune hemolytic anemia

Drug-induced AIHA

ORPHA:90037

Dysmorphism-pectus carinatum-joint laxity syndrome

Guízar Vázquez-Sánchez-Manzano syndrome

ORPHA:2104

Dyssegmental dysplasia, Rolland-Desbuquois type

ORPHA:156731

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

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

ORPHA:674762

Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency

Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency

ORPHA:658946

Early-onset sarcoidosis

ORPHA:90341

Endometrioid carcinoma of ovary

ORPHA:454723