Rare Disease Library

Best vitelliform macular dystrophy

BMD · BVMD

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Benign concentric annular macular dystrophy

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

Butterfly-shaped pigment dystrophy

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

BVES-related limb-girdle muscular dystrophy

LGMD2X · Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome

Congenital muscular dystrophy

CMD · MDC

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Distal myopathy

Distal muscular dystrophy

Duchenne and Becker muscular dystrophy

Severe dystrophinopathy, Duchenne and Becker type

Duchenne muscular dystrophy

DMD · Duchenne

Emery-Dreifuss muscular dystrophy

EDMD

Epidermolysis bullosa simplex with muscular dystrophy

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

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Hereditary bullous dystrophy, macular type

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Limb-girdle muscular dystrophy

LGMD

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

Myotonic dystrophy

North Carolina macular dystrophy

CAPE dystrophy · CAPED

OBSOLETE: Genetic macular dystrophy

OBSOLETE: Isolated macular dystrophy

OBSOLETE: Syndromic macular dystrophy

Occult macular dystrophy

OCMD · OMD

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Oculopharyngeal muscular dystrophy

OPMD

Primary anetoderma

Primary macular atrophy

Progressive cone dystrophy

Cone dystrophy

Progressive muscular dystrophy

Retinal macular dystrophy type 2

MCDR2

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy