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 ×

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

ORPHA:399058

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

ORPHA:482601

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

ORPHA:98910

Autosomal dominant ACTN2-related distal myopathy

ORPHA:708133

Autosomal recessive ACTN2-related distal myopathy

ORPHA:708129

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

ORPHA:399103

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

ORPHA:84132

DNAJB4-related distal myopathy

ORPHA:700170

DNAJB6-related distal myopathy

ORPHA:708126

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

ORPHA:707983

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

KLHL9-related early-onset distal myopathy

ORPHA:399081

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Laminin subunit alpha 2-related late-onset muscular dystrophy · Laminin subunit alpha 2-related LGMD R23

ORPHA:565837

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

ORPHA:98912

SMPX-related distal myopathy

ORPHA:700163

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600