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"

18 matching diseasesClear search ×

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

ORPHA:817

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2

ORPHA:263534

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

ORPHA:96253

Dowling-Degos disease

Reticular pigment anomaly of flexures

ORPHA:79145

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

ORPHA:342

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

ORPHA:100026

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

ORPHA:354

Histoplasmosis

Darling disease

ORPHA:390

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Legg-Calvé-Perthes disease

Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis

ORPHA:2380

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

ORPHA:584

Other acquired skin disease

ORPHA:90077

Peeling skin syndrome type A

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

ORPHA:263548

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

ORPHA:263553

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare skin disease

ORPHA:89826

Skin vascular disease

ORPHA:79379