Ehlers-Danlos syndrome dermatosparaxis type

Summary

DOID:0080733 - Ehlers-Danlos syndrome dermatosparaxis type

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: adamts2

MIM:

MIM:225410 - EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS

MIM:225410 - EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Ehlers-Danlos syndrome (is_a)