Rare Disease Library

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Heme oxygenase-1 deficiency

HO-1 deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Müllerian aplasia and hyperandrogenism

Müllerian duct failure and hyperandrogenism · WNT4 deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Myeloperoxidase deficiency

MPO deficiency

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyridoxine-dependent-developmental and epileptic encephalopathy

Antiquitin deficiency · Vitamin B6-dependent seizures

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Rare deficiency anemia

Reticular dysgenesis

AK2 deficiency · De Vaal disease

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia