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monogenic disease
?
TBD
Human disease
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Subclasses
10
ALS
Rare neurodegenerative disease
Cornelia de Lange syndrome
Medical condition
Postural orthostatic tachycardia syndrome
Abnormally high heart rate after a postural change
Catecholaminergic polymorphic ventricular tachycardia
Medical condition
Cataract
Clouding of the lens inside the eye, causing poor vision
Cayman type cerebellar ataxia
human disease
Ciliopathy
Genetic disease resulting in abnormal formation or function of cilia
gene duplication disease
human disease
Alport syndrome
Medical condition
X-linked disease
monogenic disease that has material basis in mutations in genes on the X chromosome
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Instance of
class of disease
Subclass of
Genetic disorder
Wikidata