Ehlers-Danlos syndrome dermatosparaxis type

Term ID

DOID:0080733

Synonyms

Definition

An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• OMIM:225410

Ontology

Human Disease   ( DOID:0080733 )