Rare Disease Library

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

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

Hemophilia B

Congenital F9 deficiency · Christmas disease

Histidinemia

HAL deficiency · HIS deficiency

HSD10 disease

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

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Hypoplasminogenemia

Plasminogen deficiency type 1

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

L-ferritin deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Leukocyte adhesion deficiency type I

LAD-I

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Leukocyte adhesion deficiency type III

LAD-1 variant · LAD-III

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

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 acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

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