Rare Disease Library

Duchenne muscular dystrophy

DMD · Duchenne

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

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

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

Hereditary bullous dystrophy, macular type

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

Laminin subunit alpha 2-related muscular dystrophy

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

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

Limb-girdle muscular dystrophy

LGMD

Lower motor neuron syndrome with late-adult onset

Spinal muscular atrophy, Jokela type · SMAJ

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Oculopharyngeal muscular dystrophy

OPMD

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

Progressive muscular dystrophy

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Reis-Bücklers corneal dystrophy

Corneal dystrophy of Bowman layer type 1 · Granular corneal dystrophy type 3

Retinal macular dystrophy type 2

MCDR2

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

Titin-related limb-girdle muscular dystrophy R10

Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD2J

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H