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"

14 matching diseasesClear search ×

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

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

ORPHA:1369

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

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

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

Non-familial hypertrophic cardiomyopathy

ORPHA:217598

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency · OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency

ORPHA:289527

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

ORPHA:217601

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