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"

58 matching diseasesClear search ×

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

ORPHA:2749

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

ORPHA:90650

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

ORPHA:90652

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

ORPHA:2888

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

ORPHA:1264

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

Velo-facial-skeletal syndrome

ORPHA:3424