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"

7 matching diseasesClear search ×

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

ORPHA:255132

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

ORPHA:260305

Mitochondrial myopathy and sideroblastic anemia

MLASA · Myopathy, lactic acidosis and sideroblastic anemia

ORPHA:2598

Sideroblastic anemia

ORPHA:1047

X-linked sideroblastic anemia

XLSA

ORPHA:75563

X-linked sideroblastic anemia and spinocerebellar ataxia

Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia

ORPHA:2802