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"

5 matching diseasesClear search ×

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

ORPHA:325

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

ORPHA:26348

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

ORPHA:327

Hypoalphalipoproteinemia

ORPHA:31153

Hypobetalipoproteinemia

ORPHA:31154