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"

13 matching diseasesClear search ×

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

ORPHA:399058

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

ORPHA:399096

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal myopathy, Tateyama type

ORPHA:488650

Distal myopathy, Welander type

WDM

ORPHA:603

Distal myotilinopathy

ORPHA:98911

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

ORPHA:63273

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

ORPHA:178464

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

X-linked distal myopathy

ORPHA:700143