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"

22 matching diseasesClear search ×

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

ORPHA:263553

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2

ORPHA:263534

Autoinflammatory syndrome

ORPHA:93665

Autoinflammatory syndrome of childhood

ORPHA:319719

Autoinflammatory syndrome with skin involvement

ORPHA:290842

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

Familial cold urticaria

FCAS · FCU

ORPHA:47045

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

ORPHA:263543

Genetic autoinflammatory syndrome with skin involvement

ORPHA:622720

Granulomatous autoinflammatory syndrome

ORPHA:324930

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

ORPHA:500062

Mixed autoinflammatory and autoimmune syndrome

ORPHA:324933

Multisystem inflammatory syndrome in children and adults

MIS-C/A

ORPHA:598363

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

ORPHA:208650

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

ORPHA:263558

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

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

ORPHA:324977

Pyogenic autoinflammatory syndrome

ORPHA:324927

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

ORPHA:619367

Unclassified autoinflammatory syndrome

ORPHA:324936

Unexplained long-lasting fever/inflammatory syndrome

Persistent fever/inflammation of unknown origin

ORPHA:251332