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"

11 matching diseasesClear search ×

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

ORPHA:263553

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

IL21-related infantile inflammatory bowel disease

IL21-related infantile IBD

ORPHA:477661

OBSOLETE: Rare inflammatory eye disease

ORPHA:182214

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

ORPHA:817

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

ORPHA:263548

Rare inflammatory bowel disease

ORPHA:104012

TRIM22-related inflammatory bowel disease

TRIM22-related IBD

ORPHA:597201