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Genetic disorder
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Health problem caused by one or more abnormalities in the genome
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Instances
10
Alström syndrome
Rare genetic disorder involving childhood obesity and multiple organ dysfunction
Abetalipoproteinemia
Medical condition
Fabry disease
Rare human genetic lysosomal storage disorder
IPEX syndrome
Medical condition
Familial Amyloidosis, Finnish Type
Medical condition
Microcephaly with spastic diplegia
human disease
Overgrowth syndrome
Group of rare genetic disorders involving tissue hypertrophy
LIG4 syndrome
Medical condition
BRCA1 hereditary breast and ovarian cancer syndrome
human disease
BRCA2 hereditary breast and ovarian cancer syndrome
Human disease
Subclasses
72
Tetralogy of Fallot
Type of congenital heart defect
Wolff–Parkinson–White syndrome
Medical condition
Acrodermatitis enteropathica
Medical condition
Cornelia de Lange syndrome
Medical condition
Congenital heart defect
Defect in the structure of the heart that is present at birth
Postural orthostatic tachycardia syndrome
Abnormally high heart rate after a postural change
Central hypoventilation syndrome
Medical condition
Wolfram syndrome
Human disease
respiratory underresponsiveness to hypoxia and hypercapnia
human disease
SIDS
Sudden unexplained death of a child who is less than one year of age
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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either...

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