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"

13 matching diseasesClear search ×

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

ORPHA:2785

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Brain inflammatory disease

ORPHA:102005

Brill-Zinsser disease

Brill disease · Recrudescent typhus

ORPHA:99990

GCGR-related hyperglucagonemia

Mahvash disease

ORPHA:438274

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

ORPHA:368

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

ORPHA:324561

Marburg hemorrhagic fever

Green monkey disease · MHF

ORPHA:99826

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

ORPHA:566943

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

ORPHA:2398

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

ORPHA:666

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005