MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Furuncular myiasis due to Dermatobia hominis

ORPHA:563684Kl. subt.

GM1 gangliosidosis type 1

ORPHA:79255Kl. subt.
Autosomal recessive

GM1 gangliosidosis type 2

ORPHA:79256Kl. subt.
Autosomal recessive

GM1 gangliosidosis type 3

ORPHA:79257Kl. subt.
Autosomal recessive

GTP cyclohydrolase I deficiency

ORPHA:2102Kl. subt.
Autosomal recessive

Gamma-heavy chain disease

ORPHA:100026Kl. subt.

Gaucher disease type 1

ORPHA:77259Kl. subt.
Autosomal recessive

Gaucher disease type 2

ORPHA:77260Kl. subt.
Autosomal recessive

Gaucher disease type 3

ORPHA:77261Kl. subt.
Autosomal recessive

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

ORPHA:2072Kl. subt.
Autosomal recessive

Generalized galactose epimerase deficiency

ORPHA:308487Kl. subt.
Autosomal recessive

Generalized juvenile polyposis/juvenile polyposis coli

ORPHA:329971Kl. subt.
Autosomal dominant

Generalized pseudohypoaldosteronism type 1

ORPHA:171876Kl. subt.
Autosomal recessive

Genetic central precocious puberty in male

ORPHA:650097Kl. subt.

Germinoma of the central nervous system

ORPHA:91352Kl. subt.
Not applicable

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Kl. subt.
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Kl. subt.
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Kl. subt.
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Kl. subt.
X-linked recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Kl. subt.
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency, late-onset

ORPHA:420429Kl. subt.
Autosomal recessive

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

ORPHA:79258Kl. subt.
Autosomal recessive

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

ORPHA:79259Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

ORPHA:308712Kl. subt.
Autosomal recessive