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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"
Chondrodysplasia-difference of sex development syndrome
Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome
Trichodysplasia-xeroderma syndrome
Weissenbacher-Zweymuller syndrome
Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome