Visualize Submit Comment
Metadata
ID DOID:0080733
Name Ehlers-Danlos syndrome dermatosparaxis type
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/
Xrefs

OMIM:225410

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a autosomal recessive disease

Add an item to the term tracker