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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"
Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type
Jackson-Weiss syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
SOFT syndrome