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"

8 matching diseasesClear search ×

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion syndrome

ORPHA:456328

X-linked centronuclear myopathy

XLCNM · XLMTM

ORPHA:596

Myopathy with hexagonally cross-linked tubular arrays

ORPHA:171889

Symptomatic form of X-linked centronuclear myopathy in female carriers

Symptomatic form of X-linked myotubular myopathy in female carriers · Symptomatic form of XLMTM in female carriers

ORPHA:604680

TRIM32-related limb-girdle muscular dystrophy R8

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

ORPHA:1878

Tubular aggregate myopathy

ORPHA:2593

X-linked distal myopathy

ORPHA:700143

X-linked myopathy with excessive autophagy

XMEA

ORPHA:25980