Rare Disease Library

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase 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

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Histidinemia

HAL deficiency · HIS deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

HSD10 disease

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

Hyaluronidase deficiency

MPS9 · MPSIX

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

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

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

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Late-onset familial hypoaldosteronism

Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism

Lathosterolosis

Sterol C5-desaturase deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Lipoic acid synthetase deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

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

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

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 short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency