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 ×

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Brody myopathy

ORPHA:53347

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

ORPHA:84132

Hereditary inclusion body myopathy type 4

HIBM4

ORPHA:324381

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

ORPHA:79091

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Inclusion body myositis

IBM · Sporadic inclusion body myositis

ORPHA:611

Inclusion myopathy

ORPHA:206662

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

Myosin storage myopathy

Hyaline body myopathy

ORPHA:53698

Polyglucosan body myopathy type 1

PGBM1

ORPHA:397937

Polyglucosan body myopathy type 2

ORPHA:456369

Reducing body myopathy

ORPHA:97239

Spheroid body myopathy

ORPHA:268129

Zebra body myopathy

ORPHA:97240