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"

9 matching diseasesClear search ×

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

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

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

ORPHA:219

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

ORPHA:268

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

ORPHA:353

Primary qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

ORPHA:371040

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

ORPHA:371024