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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"
Pierre Robin syndrome-faciodigital anomaly syndrome
Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome
Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome
OBSOLETE: Stalker-Chitayat syndrome
Rapp-Hodgkin syndrome
Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type