Rare Disease Library

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal congenital hypertrophic cardiomyopathy due to GSD · Fatal congenital hypertrophic cardiomyopathy due to glycogenosis

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation · Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

Intermediate epidermolysis bullosa simplex with cardiomyopathy

Intermediate EBS with cardiomyopathy

Leigh syndrome with cardiomyopathy

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

Lysosomal disease with hypertrophic cardiomyopathy

Ménétrier disease

Hypoproteinemic hypertrophic gastropathy · Giant hypertrophic gastritis

Mitochondrial disease with hypertrophic cardiomyopathy

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Non-familial hypertrophic cardiomyopathy

Non-hypoproteinemic hypertrophic gastropathy

Hypertrophic gastropathy without hypoproteinemia

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy

Primary hypertrophic osteoarthropathy

Idiopathic hypertrophic osteoarthropathy · PHO

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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

Rare cardiomyopathy

Rare familial disorder with hypertrophic cardiomyopathy

Rare familial disorder with hypertrophic obstructive cardiomyopathy · Rare familial disorder with hypertrophic subaortic stenosis

Rare hypertrophic cardiomyopathy

Syndrome associated with hypertrophic cardiomyopathy