Rare Disease Library

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Distal renal tubular acidosis with anemia

dRTA with anemia

Drug-induced autoimmune hemolytic anemia

Drug-induced AIHA

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Euthyroid dysprealbuminemic hyperthyroxinemia

Euthyroid dystransthyretinemic hyperthyroxinemia

Familial afibrinogenemia

Familial chylomicronemia syndrome

Familial dysfibrinogenemia

Familial Hyperalphalipoproteinemia

Familial hypercholanemia

Hereditary hypercholanemia

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial hypodysfibrinogenemia

Familial hypofibrinogenemia

Fanconi anemia

Fanconi pancytopenia

GCGR-related hyperglucagonemia

Mahvash disease

Genetic hyperferritinemia without iron overload

Benign hyperferritinemia

Hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hemolytic anemia due to glutathione reductase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Pyruvate kinase deficiency of erythrocytes

Hereditary hypercarotenemia and vitamin A deficiency

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

Hereditary isolated aplastic anemia

Histidinemia

HAL deficiency · HIS deficiency

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Hyper-beta-alaninemia

Hyperalaninemia

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Hyperbiliverdinemia

Green jaundice

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hyperinsulinemic hypoglycaemia

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperlipoproteinemia type 1

HLP type 1

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hyperphenylalaninemia due to DNAJC12 deficiency

Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia due to BH4 deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Hypertryptophanemia

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Hypoalphalipoproteinemia