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"

148 matching diseasesClear search ×

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

ORPHA:47

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

ORPHA:653751

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency

ORPHA:317476