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 ×

Oculopharyngodistal myopathy

OPDM · Oculopharyngeal distal myopathy

ORPHA:98897

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal myopathy, Tateyama type

ORPHA:488650

Distal myopathy, Welander type

WDM

ORPHA:603

Distal myotilinopathy

ORPHA:98911

DNAJB4-related distal myopathy

ORPHA:700170

DNAJB6-related distal myopathy

ORPHA:708126

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

Oculopharyngeal muscular dystrophy

OPMD

ORPHA:270

SMPX-related distal myopathy

ORPHA:700163

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600

X-linked distal myopathy

ORPHA:700143