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"

24 matching diseasesClear search ×

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

ORPHA:59181

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

Becker muscular dystrophy

BMD · Becker dystrophinopathy

ORPHA:98895

Benign concentric annular macular dystrophy

ORPHA:251287

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

ORPHA:99001

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Duchenne muscular dystrophy

DMD · Duchenne

ORPHA:98896

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

ORPHA:257

Hereditary bullous dystrophy, macular type

ORPHA:1867

Limb-girdle muscular dystrophy

LGMD

ORPHA:263

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

OBSOLETE: Genetic macular dystrophy

ORPHA:98664

OBSOLETE: Isolated macular dystrophy

ORPHA:519302

OBSOLETE: Syndromic macular dystrophy

ORPHA:519323

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Primary anetoderma

Primary macular atrophy

ORPHA:228272

Progressive muscular dystrophy

ORPHA:206644

Retinal macular dystrophy type 2

MCDR2

ORPHA:319640

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609