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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"
Syndromic orbital border hypoplasia
Urrets-Zavalia syndrome
Lethal ataxia with deafness and optic atrophy
Arts syndrome · Lethal ataxia with hearing loss and optic atrophy
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Urioste syndrome
Rett syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome