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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"
Roberts syndrome
Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
PHD syndrome · Polyvalvular heart disease syndrome
Progressive hemifacial atrophy
Hemifacial atrophy · PHA
Robinow syndrome
Acral dysostosis with facial and genital abnormalities · Fetal face syndrome
Von Voss-Cherstvoy syndrome
DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome