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"

13 matching diseasesClear search ×

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

ORPHA:324525

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

ORPHA:300751

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

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

ORPHA:439854

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

ORPHA:217591

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Gitelman-like kidney tubulopathy due to mtDNA mutation

ORPHA:620371

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

ORPHA:352563

Lysosomal disease with hypertrophic cardiomyopathy

ORPHA:217581

Mitochondrial disease with hypertrophic cardiomyopathy

ORPHA:217587

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

ORPHA:314637

Rare familial disorder with hypertrophic cardiomyopathy

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

ORPHA:99739

Rare hypertrophic cardiomyopathy

ORPHA:217569

Syndrome associated with hypertrophic cardiomyopathy

ORPHA:217595