Rare Disease Library

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"

4 matching diseasesClear search ×

Isolated retinal racemose hemangioma

RRH · Isolated retinal arteriovenous aneurysm 3

ORPHA:674924

Congenital retinal arteriovenous communication

Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina

ORPHA:353334

Familial isolated retinal arteriolar tortuosity

Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity

ORPHA:75326

Familial retinal arterial macroaneurysm

FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

ORPHA:284247