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"

36 matching diseasesClear search ×

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

ORPHA:1216

Becker muscular dystrophy

BMD · Becker dystrophinopathy

ORPHA:98895

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

Collagen VI-related congenital muscular dystrophy

COL6-RD

ORPHA:646098

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

ORPHA:370953

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 with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

ORPHA:329178

Congenital muscular dystrophy without intellectual disability

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

ORPHA:370980

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

ORPHA:662184

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

ORPHA:1875

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy, Davignon-Chauveau type

ORPHA:486815

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

ORPHA:272

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

ORPHA:589821

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

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

ORPHA:258

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

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

ORPHA:363629

Oculopharyngeal muscular dystrophy

OPMD

ORPHA:270

Progressive muscular dystrophy

ORPHA:206644

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

ORPHA:97244

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

ORPHA:75840