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"

7 matching diseasesClear search ×

Congenital factor V deficiency

Owren disease · Parahemophilia

ORPHA:326

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

ORPHA:329

Hemophilia

ORPHA:448

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

ORPHA:98878

Hemophilia B

Congenital F9 deficiency · Christmas disease

ORPHA:98879

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

ORPHA:169808

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

ORPHA:169799