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"

8 matching diseasesClear search ×

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

ORPHA:98870

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ORPHA:79326

COG5-CDG

CDG syndrome type IIi · CDG-IIi

ORPHA:263487

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 IV

CDA IV · CDA due to KLF1 mutation

ORPHA:293825

Familial hyperaldosteronism type III

FH-III · FH3

ORPHA:251274