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"

14 matching diseasesClear search ×

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

Behçet disease

ORPHA:117

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

ORPHA:464336

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Brill-Zinsser disease

Brill disease · Recrudescent typhus

ORPHA:99990

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

ORPHA:412

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

ORPHA:365

IgA Nephropathy

Berger disease · Berger's disease

ORPHA:ORPHA:93567

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

ORPHA:34145

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Multiple osteochondromas

Bessel-Hagen disease · Multiple cartilaginous exostoses

ORPHA:321

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

ORPHA:79306

Pseudo-von Willebrand disease

PT-VWD · Pseudo-von Willebrand disease type 2B

ORPHA:52530

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005