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 ×

Familial multiple nevi flammei

Familial multiple port-wine stains

ORPHA:624

Autism-facial port-wine stain syndrome

ORPHA:137911

Familial multiple discoid fibromas

Familial multiple trichodiscomas

ORPHA:538756

Familial multiple fibrofolliculoma

ORPHA:338

Familial multiple lipomatosis

ORPHA:199276

Familial multiple meningioma

ORPHA:263662

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

ORPHA:500