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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"
Familial isolated retinal arteriolar tortuosity
Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity
Arterial tortuosity syndrome
ATS
Familial retinal arterial macroaneurysm
FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
HANAC syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome