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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"
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Char-Douglas-Dungan syndrome
Thomas syndrome
Potter sequence-cleft lip/palate-cardiopathy syndrome