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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"
Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Cleft palate-short stature-vertebral anomalies syndrome
Mathieu-De Broca-Bony syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome
Sparse hair-short stature-skin anomalies syndrome