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"

18 matching diseasesClear search ×

Severe dilated cardiomyopathy due to lamin A/C mutation

Severe dilated cardiomyopathy with or without myopathy

ORPHA:83618

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

ORPHA:371176

Dilated cardiomyopathy

ORPHA:217604

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

ORPHA:66634

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

ORPHA:289377

Familial dilated cardiomyopathy

ORPHA:217607

Familial isolated dilated cardiomyopathy

Familial or idiopathic dilated cardiomyopathy

ORPHA:154

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

GSD type 15 · GSD type XV

ORPHA:263297

Intermediate epidermolysis bullosa simplex with cardiomyopathy

Intermediate EBS with cardiomyopathy

ORPHA:508529

Isolated atrial standstill

Isolated atrial cardiomyopathy with heart block

ORPHA:1344

Kidney tubulopathy-dilated cardiomyopathy syndrome

ORPHA:73224

Leigh syndrome with cardiomyopathy

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

ORPHA:70474

Mitochondrial disease with dilated cardiomyopathy

ORPHA:217613

Neuromuscular disease with dilated cardiomyopathy

ORPHA:217610

Non-familial dilated cardiomyopathy

ORPHA:217629

Non-familial rare disease with dilated cardiomyopathy

ORPHA:324767

Sensorineural deafness with dilated cardiomyopathy

Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy

ORPHA:217622

Syndrome associated with dilated cardiomyopathy

ORPHA:217619