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"

3 matching diseasesClear search ×

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

ORPHA:79146

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

ORPHA:64755

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

ORPHA:2222