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"

15 matching diseasesClear search ×

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

ORPHA:98912

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

ORPHA:482601

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

ORPHA:98910

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

ORPHA:199340

Desminopathy

Desmin-related myofibrillar myopathy

ORPHA:98909

DNAJB4-related distal myopathy

ORPHA:700170

DNAJB6-related distal myopathy

ORPHA:708126

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

ORPHA:178464

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

ORPHA:43115

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

ORPHA:476093

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

ORPHA:171445

Myofibrillar myopathy

MFM

ORPHA:593

OBSOLETE: LIMS2-related myopathy

ORPHA:466801

SMPX-related distal myopathy

ORPHA:700163

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600