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"

6 matching diseasesClear search ×

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

ORPHA:178400

Autosomal dominant distal myopathy

ORPHA:206650

Distal myopathy

Distal muscular dystrophy

ORPHA:599

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600