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"

12 matching diseasesClear search ×

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

ORPHA:2710

Dentin dysplasia

DD

ORPHA:1653

Dentin dysplasia type I

DD-I · DTDP1

ORPHA:99789

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

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

ORPHA:2705

Oculo-oto-facial dysplasia

ORPHA:77302

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

ORPHA:2718

Odonto-onycho-dermal dysplasia

OODD

ORPHA:2721

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791