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"

62 matching diseasesClear search ×

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

ORPHA:678

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

ORPHA:705

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

ORPHA:1662

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

ORPHA:50944

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

ORPHA:293165

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

ORPHA:2815

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

ORPHA:50942

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

ORPHA:42665

Treft-Sanborn-Carey syndrome

Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome · Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome

ORPHA:3349

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686