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"

4 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

Rare disorder with hypergonadotropic hypogonadism

Rare disorder with primary hypogonadism

ORPHA:181441

Rare disorder with hypertrichosis

ORPHA:79365

Rare disorder with ptosis

ORPHA:98578