COL1A1-related Ehlers-Danlos syndrome
MONDO:0100599Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
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Broader categories
Disease
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Hereditary disease
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Syndromic disease
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Ehlers-Danlos syndrome
(20)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
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Disease by body system or component
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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