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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"
Susac syndrome
Retinocochleocerebral vasculopathy
Cerebroretinal vasculopathy
CRV · Grand-Kaine-Fulling syndrome
Hereditary vascular retinopathy
HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome
Rare genetic retinal vasculopathy
Rare retinal vasculopathy
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy