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C219916Level 6

Arthrochalasia Ehlers-Danlos Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** Variants of Ehlers-Danlos syndrome type VII caused by mutations in either the COL1A1 gene or COL1A2 gene that result in disruptions of the procollagen collagenase cleavage site.

**Synonyms:** - Arthrochalasia EDS - Ehlers-Danlos Syndrome Type Arthrochalasia - Ehlers-Danlos Syndrome, Arthrochalasia Type - Ehlers-Danlos syndrome, procollagen proteinase resistant - aEDS

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