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"

14 matching diseasesClear search ×

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

ORPHA:482601

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

ORPHA:178400

DNAJB4-related distal myopathy

ORPHA:700170

DNAJB6-related distal myopathy

ORPHA:708126

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

ORPHA:476093

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

ORPHA:70474

OBSOLETE: Congenital myopathy with vacuoles

ORPHA:172985

SMPX-related distal myopathy

ORPHA:700163

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600

X-linked distal myopathy

ORPHA:700143