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"

12 matching diseasesClear search ×

Intermediate epidermolysis bullosa simplex with cardiomyopathy

Intermediate EBS with cardiomyopathy

ORPHA:508529

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

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

ORPHA:476123

Intermediate nemaline myopathy

ORPHA:171433

Leigh syndrome with cardiomyopathy

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

ORPHA:70474

Rare cardiomyopathy

ORPHA:167848

Severe dilated cardiomyopathy due to lamin A/C mutation

Severe dilated cardiomyopathy with or without myopathy

ORPHA:83618

Syndrome associated with dilated cardiomyopathy

ORPHA:217619