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"

9 matching diseasesClear search ×

Heart-hand syndrome, Slovenian type

Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

ORPHA:168796

Cardiomyopathy-cataract-hip spine disease syndrome

Krasnow-Qazi syndrome

ORPHA:1345

Dilated cardiomyopathy

ORPHA:217604

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

ORPHA:2229

Hirschsprung disease-type D brachydactyly syndrome

ORPHA:2150

Kidney tubulopathy-dilated cardiomyopathy syndrome

ORPHA:73224

Mitochondrial disease with dilated cardiomyopathy

ORPHA:217613

Neuromuscular disease with dilated cardiomyopathy

ORPHA:217610

Syndrome associated with dilated cardiomyopathy

ORPHA:217619