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 ×

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

ORPHA:63273

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

ORPHA:399096

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal myotilinopathy

ORPHA:98911

Filamin-related bone disorder

Bone filaminopathy

ORPHA:93425

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

ORPHA:171445

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609