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"

15 matching diseasesClear search ×

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

ORPHA:329

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

ORPHA:599480

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

ORPHA:599485

Congenital factor V deficiency

Owren disease · Parahemophilia

ORPHA:326

Hemophilia

ORPHA:448

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

ORPHA:98878

Hemophilia B

Congenital F9 deficiency · Christmas disease

ORPHA:98879

Hemophilia B Leyden

Factor IX deficiency, Leyden type · F9 deficiency, Leyden type

ORPHA:617930

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

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

ORPHA:169805

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

ORPHA:169796

OBSOLETE: Acquired hemophilia

ORPHA:73274

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

ORPHA:169802

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

ORPHA:169793