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"

9 matching diseasesClear search ×

Whipple disease

Intestinal lipodystrophy

ORPHA:3452

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

ORPHA:79087

Centrifugal lipodystrophy

Lipodystrophia centrifugalis abdominalis infantilis

ORPHA:90156

Drug-induced localized lipodystrophy

Lipoatrophy caused by injected drug

ORPHA:90157

IgG4-related mesenteritis

Isolated mesenteric lipodystrophy · Lipomatous mesenteritis

ORPHA:238593

Laminopathy with lipodystrophy

ORPHA:300763

Localized lipodystrophy

ORPHA:79088

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

ORPHA:1876

Primary lipodystrophy

ORPHA:90970