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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"
WHIM syndrome
WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Denys-Drash syndrome
Wilms tumor-DSD syndrome · Drash syndrome
Nephroblastoma
Renal embryonic tumor · Wilms tumor
WAGR syndrome
Del(11)(p13) · Deletion 11p13
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
GLOW syndrome