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"

52 matching diseasesClear search ×

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

ORPHA:55595

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

ORPHA:369840

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

ORPHA:1878

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

ORPHA:75840