Rare Disease Library

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Combined immunodeficiency due to HELIOS deficiency

CID due to HELIOS deficiency · Combined immunodeficiency due to IKZF2 deficiency

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

GSD due to hepatic glycogen synthase deficiency · GSD type 0a

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Hemolytic anemia due to adenylate kinase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor 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

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 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

Hyperphenylalaninemia due to DNAJC12 deficiency

Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia due to BH4 deficiency

Pancreatic triacylglycerol lipase deficiency

Pancreatic triglyceride lipase deficiency

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency