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 ×

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600

Congenital myopathy with cores

ORPHA:172976

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

ORPHA:178400

Distal myopathy, Welander type

WDM

ORPHA:603

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

ORPHA:63273

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135