Rare Disease Library

Hypobetalipoproteinemia

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Hypoplasminogenemia

Plasminogen deficiency type 1

Hypotonia with lactic acidemia and hyperammonemia

COXPD5 · Combined oxidative phosphorylation defect type 5

Idiopathic aplastic anemia

Idiopathic bone marrow failure

Intermediate nemaline myopathy

Late-onset citrullinemia type I

Late-onset citrullinemia type 1

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

Methemoglobinemia-related cyanosis

Microcytic anemia with liver iron overload

Mild hyperphenylalaninemia

Mild HPA · Non-PKU HPA

Mitochondrial myopathy and sideroblastic anemia

MLASA · Myopathy, lactic acidosis and sideroblastic anemia

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

Mixed-type autoimmune hemolytic anemia

Mixed AIHA

Neonatal autoimmune hemolytic anemia

Neonatal AHA · Neonatal AIHA

Non-hypoproteinemic hypertrophic gastropathy

Hypertrophic gastropathy without hypoproteinemia

Non-spherocytic hemolytic anemia due to hexokinase deficiency

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

OBSOLETE: Anemia due to adenosine triphosphatase deficiency

OBSOLETE: Aregenerative anemia

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality · OBSOLETE: EDS X

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

OBSOLETE: Heinz body anemia

OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

OBSOLETE: Hereditary iron overload with anemia

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome

OBSOLETE: Recessive hereditary methemoglobinemia type 1

OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 · OBSOLETE: Recessive congenital methemoglobinemia type 1

OBSOLETE: Recessive hereditary methemoglobinemia type 2

OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 · OBSOLETE: Recessive congenital methemoglobinemia type 2

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

Pancreatic insufficiency-anemia-hyperostosis syndrome

Pulmonary arterial hypertension associated with chronic hemolytic anemia

PAH · PAH associated with chronic hemolytic anemia

Rare acquired aplastic anemia

Rare acquired deficiency anemia

Rare acquired hemolytic anemia

Rare anemia

Rare aplastic anemia

Rare constitutional anemia

Rare constitutional aplastic anemia

Rare constitutional hemolytic anemia

Rare deficiency anemia

Refractory anemia with excess blasts in transformation

RAEB-t

Sarcosinemia

Sarcosine dehydrogenase complex deficiency