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"

7 matching diseasesClear search ×

Keratosis follicularis spinulosa decalvans

ORPHA:2340

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

ORPHA:2339

Darier disease

Darier-White disease · Keratosis follicularis

ORPHA:218

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

ORPHA:79141

Lichen planopilaris

Follicular lichen planus · LPP

ORPHA:525

Warty dyskeratoma

Follicular dyskeratoma

ORPHA:69745