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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"
Urofacial syndrome
Hydronephrosis-inverted smile syndrome · Ochoa syndrome
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia · AML
Orofaciodigital syndrome type 9
Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities
Robinow syndrome
Acral dysostosis with facial and genital abnormalities · Fetal face syndrome