Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 (EDSARTH2)

Alias:
Eds Viib
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant
Ehlers-Danlos Syndrome Arthrochalasia Type 2
Ehlers-Danlos Syndrome Type 7b
Edsarth2
Eds7b
Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Ehlers-Danlos Syndrome 7b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2, also known as eds viib, is related to ehlers-danlos syndrome, arthrochalasia type, 1 and ehlers-danlos/osteogenesis imperfecta syndrome. An important gene associated with Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Microglia pathogen phagocytosis pathway and Burn wound healing. Affiliated tissues include skin, and related phenotypes are talipes equinovarus and joint hypermobility
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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8
266
24

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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