Ehlers-Danlos syndrome classic type 2

Term ID

DOID:0080726

Synonyms

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/

References

• OMIM:130010

Ontology

Human Disease   ( DOID:0080726 )