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"

50 matching diseasesClear search ×

Singleton-Merten dysplasia

Singleton-Merten syndrome

ORPHA:85191

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

ORPHA:3369

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