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"

11 matching diseasesClear search ×

Thrombocytopenia with congenital dyserythropoietic anemia

XDAT · Congenital dyserythropoietic anemia with thombocytopenia

ORPHA:67044

Congenital amegakaryocytic thrombocytopenia

CAMT

ORPHA:3319

Congenital dyserythropoietic anemia

CDA

ORPHA:85

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

ORPHA:98869

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

ORPHA:98873

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

ORPHA:98870

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

ORPHA:293825

Congenital erythropoietic porphyria

CEP · Günther disease

ORPHA:79277

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Constitutional dyserythropoietic anemia

ORPHA:293830

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

ORPHA:363727