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"

20 matching diseasesClear search ×

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

ORPHA:331

Acquired factor V deficiency

ORPHA:599490

Acquired factor VII deficiency

ORPHA:599495

Acquired factor X deficiency

aFX

ORPHA:599501

Acquired factor XI deficiency

aFXI

ORPHA:599507

Acquired factor XIII deficiency

aFXIII

ORPHA:599513

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 II deficiency

Dysprothrombinemia · Hypoprothrombinemia

ORPHA:325

Congenital factor V deficiency

Owren disease · Parahemophilia

ORPHA:326

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

ORPHA:327

Congenital factor X deficiency

Congenital Stuart factor deficiency · Stuart-Prower factor deficiency

ORPHA:328

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

ORPHA:329

Congenital factor XII deficiency

Congenital Hageman factor deficiency

ORPHA:330

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

ORPHA:332

Hemophilia B

Congenital F9 deficiency · Christmas disease

ORPHA:98879

Hemophilia B Leyden

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

ORPHA:617930

Immunodeficiency with factor I anomaly

Complete factor I deficiency

ORPHA:200418

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

ORPHA:238670

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

STAT1 deficiency · Predisposition to severe viral infection due to STAT1 deficiency

ORPHA:391311