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"

10 matching diseasesClear search ×

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

4H leukodystrophy

POLR-related leukodystrophy

ORPHA:289494

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

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

ORPHA:280333

Collagen VI-related congenital muscular dystrophy

COL6-RD

ORPHA:646098

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

ORPHA:157973

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

ORPHA:272

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

ORPHA:268

FLNA-related X-linked myxomatous valvular dysplasia

Filamin A-related X-linked myxomatous valvular dysplasia · FLNA-related valvular dystrophy

ORPHA:555877

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

ORPHA:646113

Laminin subunit alpha 2-related muscular dystrophy

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

ORPHA:207094