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"

10 matching diseasesClear search ×

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

ORPHA:523

Familial cutaneous collagenoma

ORPHA:53296

Familial multiple discoid fibromas

Familial multiple trichodiscomas

ORPHA:538756

Familial multiple fibrofolliculoma

ORPHA:338

Familial multiple lipomatosis

ORPHA:199276

Familial multiple meningioma

ORPHA:263662

Familial multiple nevi flammei

Familial multiple port-wine stains

ORPHA:624

Familial multiple trichoepithelioma

ORPHA:867

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

ORPHA:500

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453