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-B crystallin-related late-onset myopathy

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

ORPHA:399058

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

ORPHA:98910

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

ORPHA:399103

Bietti crystalline dystrophy

BCD · Bietti crystalline corneoretinal dystrophy

ORPHA:41751

Distal myotilinopathy

ORPHA:98911

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

KLHL9-related early-onset distal myopathy

ORPHA:399081

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

ORPHA:98912

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609