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"

6 matching diseasesClear search ×

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

Non-familial hypertrophic cardiomyopathy

ORPHA:217598

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

ORPHA:217601

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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

ORPHA:228012

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