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"

52 matching diseasesClear search ×

X-linked severe syndromic thoracic aortic aneurysm and dissection

Meester-Loeys syndrome · X-linked severe syndromic TAAD

ORPHA:622925

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

ORPHA:85292

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469