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"

5 matching diseasesClear search ×

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

ORPHA:2398

Benign hereditary chorea

BHC · Benign familial chorea

ORPHA:1429

Familial angiolipomatosis

ORPHA:199279

Familial cylindromatosis

Turban tumor syndrome

ORPHA:211

Familial multiple lipomatosis

ORPHA:199276