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"

11 matching diseasesClear search ×

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

ORPHA:280671

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, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

ORPHA:272

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

ORPHA:258

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

ORPHA:97244

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

ORPHA:75840