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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
Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis
Tetraamelia-multiple malformations syndrome
Zimmer phocomelia · PAPPAS
Von Voss-Cherstvoy syndrome
DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome