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"

7 matching diseasesClear search ×

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

ORPHA:178400

KLHL9-related early-onset distal myopathy

ORPHA:399081

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

TARDBP-related predominantly upper-limb distal myopathy

ORPHA:700154

X-linked distal myopathy

ORPHA:700143