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"

17 matching diseasesClear search ×

Sensorineural deafness with dilated cardiomyopathy

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

ORPHA:217622

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

Familial isolated dilated cardiomyopathy

Familial or idiopathic dilated cardiomyopathy

ORPHA:154

Mitochondrial disease with dilated cardiomyopathy

ORPHA:217613

Mitochondrial DNA-related cardiomyopathy and hearing loss

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

ORPHA:1349

Neuromuscular disease with dilated cardiomyopathy

ORPHA:217610

Non-familial dilated cardiomyopathy

ORPHA:217629

Non-familial rare disease with dilated cardiomyopathy

ORPHA:324767

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome

ORPHA:228012

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

ORPHA:90641

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN

ORPHA:90625

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

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

ORPHA:139583