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"

51 matching diseasesClear search ×

Syndromic intestinal malformation

ORPHA:108969

Syndromic urogenital tract malformation

ORPHA:165707

Syndromic uterovaginal malformation

ORPHA:180148

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