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"

71 matching diseasesClear search ×

Epidermolysis bullosa simplex with muscular dystrophy

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

ORPHA:257

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

ORPHA:280333

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

ORPHA:62

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

ORPHA:206549

Becker muscular dystrophy

BMD · Becker dystrophinopathy

ORPHA:98895

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

ORPHA:119

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

BVES-related limb-girdle muscular dystrophy

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

ORPHA:476084

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

ORPHA:565909

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

ORPHA:267

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

ORPHA:157973

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

ORPHA:98893

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

ORPHA:52428

Congenital muscular dystrophy type 1D

MDC1D

ORPHA:98894

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

ORPHA:370959

Congenital muscular dystrophy with hyperlaxity

CMDH

ORPHA:371007

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

ORPHA:34520

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

ORPHA:370968

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

ORPHA:370980

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

ORPHA:272

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

ORPHA:219

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

ORPHA:399096

Distal myopathy

Distal muscular dystrophy

ORPHA:599

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

ORPHA:34516

Duchenne and Becker muscular dystrophy

Severe dystrophinopathy, Duchenne and Becker type

ORPHA:262

Duchenne muscular dystrophy

DMD · Duchenne

ORPHA:98896

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

ORPHA:268

Emery-Dreifuss muscular dystrophy

EDMD

ORPHA:261

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

ORPHA:269

FKRP-related limb-girdle muscular dystrophy R9

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

ORPHA:34515

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

ORPHA:353

GMPPB-related limb-girdle muscular dystrophy R19

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

ORPHA:363623

Hereditary motor and sensory neuropathy with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

ORPHA:90119

HNRNPDL-related limb-girdle muscular dystrophy D3

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

ORPHA:55596

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

ORPHA:1573

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

ORPHA:52430

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:1145

ISPD-related limb-girdle muscular dystrophy R20

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

ORPHA:352479

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

ORPHA:258

Laminin subunit alpha 2-related muscular dystrophy

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

ORPHA:207094

Limb-girdle muscular dystrophy

LGMD

ORPHA:263

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

ORPHA:280671

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588