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"

9 matching diseasesClear search ×

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

ORPHA:1349

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

Familial dilated cardiomyopathy

ORPHA:217607

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

ORPHA:63273

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

ORPHA:254788

Sensorineural deafness with dilated cardiomyopathy

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

ORPHA:217622

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

ORPHA:66529