DISEASES

Disease-gene associations mined from literature

Human genes for Ehlers-Danlos syndrome dermatosparaxis type

Ehlers-Danlos syndrome dermatosparaxis type [DOID:0080733]

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.

Synonyms:  Ehlers-Danlos syndrome dermatosparaxis type,  DOID:0080733,  EhlersDanlos syndrome dermatosparaxis type,  Ehlers-Danlos syndrome dermatosparaxis types