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"

16 matching diseasesClear search ×

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

ORPHA:207085

Becker muscular dystrophy

BMD · Becker dystrophinopathy

ORPHA:98895

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

ORPHA:370953

Desminopathy

Desmin-related myofibrillar myopathy

ORPHA:98909

Duchenne and Becker muscular dystrophy

Severe dystrophinopathy, Duchenne and Becker type

ORPHA:262

Duchenne muscular dystrophy

DMD · Duchenne

ORPHA:98896

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

ORPHA:269

Laminopathy with lipodystrophy

ORPHA:300763

Non-dystrophic myopathy

ORPHA:206656

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

ORPHA:63454

Primary qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

ORPHA:371040

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

ORPHA:371024

Qualitative or quantitative defects of dysferlin

Dysferlinopathy

ORPHA:207073

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

Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy

ORPHA:207113