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"

14 matching diseasesClear search ×

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

ORPHA:98869

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

ORPHA:260305

Congenital dyserythropoietic anemia

CDA

ORPHA:85

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 muscular dystrophy type 1B

CMD1B · MDC1B

ORPHA:98893

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

ORPHA:52428

Congenital muscular dystrophy type 1D

MDC1D

ORPHA:98894

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

ORPHA:589821

Constitutional dyserythropoietic anemia

ORPHA:293830

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

ORPHA:258

Thrombocytopenia with congenital dyserythropoietic anemia

XDAT · Congenital dyserythropoietic anemia with thombocytopenia

ORPHA:67044