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 ×

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

ORPHA:255132

Myelodysplastic neoplasm with increased blasts

MDS · MDS with excess blasts

ORPHA:86839

Myelodysplastic neoplasm with increased blasts type 1

MDS · MDS-IB1

ORPHA:100019

Myelodysplastic neoplasm with increased blasts type 2

MDS · MDS-IB2

ORPHA:100020

Myelodysplastic neoplasm with low blasts

MDS · MDS-LB

ORPHA:98826

Refractory anemia with excess blasts in transformation

RAEB-t

ORPHA:168960

Severe congenital hypochromic anemia with ringed sideroblasts

Severe congenital hypochromic sideroblastic anemia

ORPHA:300298

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