MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Glutamate-cysteine ligase deficiency

ORPHA:33574Disease
Autosomal recessive

Glutaric acidemia type 3

ORPHA:35706Disease
Autosomal recessive

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25Disease
Autosomal recessive

Glutathione synthetase deficiency

ORPHA:32Disease
Autosomal recessive

Glycine encephalopathy

ORPHA:407Disease
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Disease
Autosomal recessive

Glycogen storage disease due to aldolase A deficiency

ORPHA:57Disease
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364Disease
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency

ORPHA:367Disease
Autosomal recessive

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366Disease
Autosomal recessive

Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089Disease
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA:2364Disease

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240Disease
Autosomal recessive

Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369Disease
Autosomal recessive

Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580Disease
Autosomal recessive, X-linked recessive

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

ORPHA:137625Disease
Autosomal recessive

Glycogen storage disease due to muscle beta-enolase deficiency

ORPHA:99849Disease
Autosomal recessive

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368Disease
Autosomal recessive

Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371Disease
Autosomal recessive

Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715Disease
Autosomal recessive, X-linked recessive

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

ORPHA:713Disease
X-linked recessive

Glycogen storage disease due to phosphoglycerate mutase deficiency

ORPHA:97234Disease
Autosomal recessive

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

ORPHA:263297Disease
Autosomal recessive

Goldmann-Favre syndrome

ORPHA:53540Disease
Autosomal recessive