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"

13 matching diseasesClear search ×

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

ORPHA:238569

ALPI-related inflammatory bowel disease

ORPHA:597887

Brain inflammatory disease

ORPHA:102005

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

ORPHA:1451

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

ORPHA:596759

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

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

ORPHA:674762

IL21-related infantile inflammatory bowel disease

IL21-related infantile IBD

ORPHA:477661

OBSOLETE: Rare inflammatory eye disease

ORPHA:182214

OBSOLETE:Immune dysregulation with inflammatory bowel disease

ORPHA:529974

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

ORPHA:324290

Rare inflammatory bowel disease

ORPHA:104012

STAT3-related early-onset multisystem autoimmune disease

ORPHA:438159

TRIM22-related inflammatory bowel disease

TRIM22-related IBD

ORPHA:597201