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"

3 matching diseasesClear search ×

Neurooculocardiogenitourinary syndrome

NOCGUS · Neuro-oculo-cardio-genito-urinary syndrome

ORPHA:684305

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

ORPHA:647811

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

ORPHA:2229