MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Glutamate-cysteine ligase deficiency

ORPHA:33574Kr.
Autosomal recessive

Glutaric acidemia type 3

ORPHA:35706Kr.
Autosomal recessive

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25Kr.
Autosomal recessive

Glutathione synthetase deficiency

ORPHA:32Kr.
Autosomal recessive

Glycine encephalopathy

ORPHA:407Kr.
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Kr.
Autosomal recessive

Glycogen storage disease due to aldolase A deficiency

ORPHA:57Kr.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364Kr.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency

ORPHA:367Kr.
Autosomal recessive

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366Kr.
Autosomal recessive

Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089Kr.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA:2364Kr.

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240Kr.
Autosomal recessive

Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369Kr.
Autosomal recessive

Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580Kr.
Autosomal recessive, X-linked recessive

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

ORPHA:137625Kr.
Autosomal recessive

Glycogen storage disease due to muscle beta-enolase deficiency

ORPHA:99849Kr.
Autosomal recessive

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368Kr.
Autosomal recessive

Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371Kr.
Autosomal recessive

Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715Kr.
Autosomal recessive, X-linked recessive

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

ORPHA:713Kr.
X-linked recessive

Glycogen storage disease due to phosphoglycerate mutase deficiency

ORPHA:97234Kr.
Autosomal recessive

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

ORPHA:263297Kr.
Autosomal recessive

Goldmann-Favre syndrome

ORPHA:53540Kr.
Autosomal recessive