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"

20 matching diseasesClear search ×

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

ORPHA:369861

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

ORPHA:260305

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

ORPHA:255132

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital analbuminemia

ORPHA:86816

Congenital atransferrinemia

Congenital hypotransferrinemia

ORPHA:1195

Congenital cystic eye

Congenital anophthalmos with cyst

ORPHA:519384

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 III

CDA III · CDA type 3

ORPHA:98870

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

ORPHA:293825

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

ORPHA:332

Congenital mesoblastic nephroma

ORPHA:2665

Mitochondrial myopathy and sideroblastic anemia

MLASA · Myopathy, lactic acidosis and sideroblastic anemia

ORPHA:2598

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