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"

8 matching diseasesClear search ×

Familial cerebral saccular aneurysm

Familial berry aneurysm · Familial intracranial saccular aneurysm

ORPHA:231160

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

ORPHA:190

Familial abdominal aortic aneurysm

ORPHA:86

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

ORPHA:228277

Familial bicuspid aortic valve

Familial BAV

ORPHA:402075

Familial retinal arterial macroaneurysm

FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

ORPHA:284247

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

ORPHA:91387

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

ORPHA:319465