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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 syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome
Anonychia-onychodystrophy syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Renal cysts and diabetes syndrome · HNF1B-MODY
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
PLAAT3-related lipodystrophy syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome