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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"
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome
Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome