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"

5 matching diseasesClear search ×

Heart-hand syndrome, Slovenian type

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

ORPHA:168796

Heart-hand syndrome

Atriodigital dysplasia

ORPHA:228184

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

ORPHA:1350

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

ORPHA:1342

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

ORPHA:392