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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"
Oculodentodigital dysplasia
Oculo-dento-digital dysplasia · ODOD syndrome
Dentin dysplasia
DD
Heart-hand syndrome
Atriodigital dysplasia
Heart-hand syndrome type 2
Atriodigital dysplasia type 2 · Tabatznik syndrome
Heart-hand syndrome type 3
Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3
Holt-Oram syndrome
Atriodigital dysplasia type 1 · HOS
Oculo-oto-facial dysplasia
Otodental syndrome
Globodontia · Otodental dysplasia