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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"
Intellectual disability-short stature-hypertelorism syndrome
Stoll-Géraudel-Chauvin syndrome
Angora hair nevus
Schauder syndrome
CHAND syndrome
Baughman syndrome · CHANDS
Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Curly hair-acral keratoderma-caries syndrome
CHAC syndrome · CHACS
Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome