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"

3 matching diseasesClear search ×

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

ORPHA:91387

Rare disease with thoracic aortic aneurysm and aortic dissection

ORPHA:285014

X-linked severe syndromic thoracic aortic aneurysm and dissection

Meester-Loeys syndrome · X-linked severe syndromic TAAD

ORPHA:622925