MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

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

ORPHA:488613Malform.
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Malform.
Unknown

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

ORPHA:708178Malform.
Autosomal dominant

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

ORPHA:480898Disease
Autosomal dominant, Autosomal recessive

Glomus tumor

ORPHA:391651Disease

Glomuvenous malformation

ORPHA:83454Malform.
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Malform.
Not applicable

Glossopharyngeal neuralgia

ORPHA:221098Disease

Glucagonoma

ORPHA:97280Disease
Not applicable

Glucose-galactose malabsorption

ORPHA:35710Disease
Autosomal recessive

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

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Clin. sub.
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Clin. sub.
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Clin. sub.
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Clin. sub.
X-linked recessive

Glycine encephalopathy

ORPHA:407Disease
Autosomal recessive

Glycogen storage disease

ORPHA:79201Cat.

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Disease
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Clin. sub.
Autosomal recessive

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

ORPHA:420429Clin. sub.
Autosomal recessive

Glycogen storage disease due to aldolase A deficiency

ORPHA:57Disease
Autosomal recessive