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"

20 matching diseasesClear search ×

Rare familial disorder with hypertrophic cardiomyopathy

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

ORPHA:99739

Familial dilated cardiomyopathy

ORPHA:217607

Familial isolated dilated cardiomyopathy

Familial or idiopathic dilated cardiomyopathy

ORPHA:154

Familial isolated restrictive cardiomyopathy

Familial or idiopathic restrictive cardiomyopathy

ORPHA:75249

Familial restrictive cardiomyopathy

ORPHA:217635

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

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

Lysosomal disease with hypertrophic cardiomyopathy

ORPHA:217581

Mitochondrial disease with hypertrophic cardiomyopathy

ORPHA:217587

Non-familial hypertrophic cardiomyopathy

ORPHA:217598

Non-familial rare disease with dilated cardiomyopathy

ORPHA:324767

Non-familial restrictive cardiomyopathy

ORPHA:217720

OBSOLETE: Familial restrictive cardiomyopathy type 1

ORPHA:99985

OBSOLETE: Familial restrictive cardiomyopathy type 2

ORPHA:99986

OBSOLETE: Familial restrictive cardiomyopathy type 3

OBSOLETE: RCM3

ORPHA:218432

Rare disorder with obstructive azoospermia

Rare disorder due to impaired sperm transport

ORPHA:399824

Rare genetic disorder with obstructive azoospermia

Rare genetic disorder due to impaired sperm transport

ORPHA:400003

Rare hypertrophic cardiomyopathy

ORPHA:217569

Syndrome associated with hypertrophic cardiomyopathy

ORPHA:217595