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"

9 matching diseasesClear search ×

Mitochondrial myopathy and sideroblastic anemia

MLASA · Myopathy, lactic acidosis and sideroblastic anemia

ORPHA:2598

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

ORPHA:255132

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

ORPHA:260305

Cardiomyopathy-hypotonia-lactic acidosis syndrome

ORPHA:91130

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

ORPHA:528091

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

ORPHA:2597

Sideroblastic anemia

ORPHA:1047

X-linked sideroblastic anemia

XLSA

ORPHA:75563