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Disease Index

9,486 diseases

global cerebellar malformation

global developmental delay-lung cysts-overgrowth-wilms tumor syndrome

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

global developmental delay-osteopenia-ectodermal defect syndrome

This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies

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

globoszoospermia

male infertility characterized by round-headed spermatozoa lacking an acrosome

glomangiomatosis

ICD: Q27.8MeSH: C536827

disease involving the renal glomerulus

glomerulopathy with fibronectin deposits 1

hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body

ICD: D18MeSH: D005918

glossopalatine ankylosis

glossopharyngeal neuralgia

medical condition

ICD: C25.4MeSH: D005935

Glucocorticoid deficiency 1

glucocorticoid resistance

medical condition

glucocorticoid-remediable aldosteronism

gluconeogenesis disorder

acquired metabolic disease that is has its basis in the disruption of gluconeogenesis

glucose transport disorder

acquired metabolic disease that is has its basis in the disruption of glucose transport

glucose-6-phosphate dehydrogenase deficiency

carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)

glucose-galactose malabsorption

Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period

ICD: E74.3MeSH: C562602

glutaric acidemia type 3

glutaric aciduria type 1

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder

ICD: E72.3MeSH: C536833

glutathione synthetase deficiency

glutathione synthetase deficiency without 5-oxoprolinuria

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine

glycerol kinase deficiency

glycerol kinase deficiency, adult form

Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults

glycerol kinase deficiency, infantile form

glycerol kinase deficiency, juvenile form

Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness

glycine encephalopathy

amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues

Page 127 of 317 (9,486 total)

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