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Metadata
ID DOID:0080728
Name Ehlers-Danlos syndrome arthrochalasia type 2
Definition An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
https://pubmed.ncbi.nlm.nih.gov/18409203/
Xrefs

MIM:617821

Parent Relationships

is_a autosomal dominant disease

is_a Ehlers-Danlos syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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