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Metadata
ID DOID:0080726
Name Ehlers-Danlos syndrome classic type 2
Definition An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.
https://pubmed.ncbi.nlm.nih.gov/22696272/
Xrefs

MIM:130010

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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