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"

7 matching diseasesClear search ×

Primary qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

ORPHA:371040

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

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

ORPHA:267

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

ORPHA:370953

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

ORPHA:371024

Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy

ORPHA:207113