MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

ORPHA:488613Malf.
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Malf.
Unknown

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ORPHA:708178Malf.
Autosomal dominant

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

ORPHA:480898Kr.
Autosomal dominant, Autosomal recessive

Glomus tumor

ORPHA:391651Kr.

Glomuvenous malformation

ORPHA:83454Malf.
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Malf.
Not applicable

Glossopharyngeal neuralgia

ORPHA:221098Kr.

Glucagonoma

ORPHA:97280Kr.
Not applicable

Glucose-galactose malabsorption

ORPHA:35710Kr.
Autosomal recessive

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

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

Glycine encephalopathy

ORPHA:407Kr.
Autosomal recessive

Glycogen storage disease

ORPHA:79201Kat.

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Kr.
Autosomal 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 aldolase A deficiency

ORPHA:57Kr.
Autosomal recessive