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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"
Stüve-Wiedemann syndrome
STWS · Stüve-Wiedemann dysplasia
Neonatal antiphospholipid syndrome
Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome
Neonatal compartment syndrome
Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome
Neonatal Marfan syndrome
Neonatal MFS
OBSOLETE: Neonatal epilepsy syndrome
Schwartz-Jampel syndrome
Aberfeld syndrome · Burton skeletal dysplasia
Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome