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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"
Anophthalmia-hypothalamo-pituitary insufficiency syndrome
14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome
Fragile X syndrome
FRAXA syndrome · FXS
HARP syndrome
Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome
Walker-Warburg syndrome
HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome