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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"
Craniosynostosis-dental anomalies
Kreiborg-Pakistani syndrome
Hyperzincemia and hypercalprotectinemia
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome
Pai syndrome
Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
PAPA syndrome
FRA · Familial recurrent arthritis
PARC syndrome
Poikiloderma-alopecia-retrognathism-cleft palate syndrome
PASH syndrome
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
PASS syndrome
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome