Ehlers-Danlos syndrome classic type 1

Summary

DOID:14720 - Ehlers-Danlos syndrome classic type 1

Disease Ontology Definition:An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.

Synonyms: Ehlers-Danlos syndrome, type 1, Ehlers-Danlos syndrome, type 1 (disorder), type I Ehlers-Danlos syndrome

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

: col5a1, col5a2, col1a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019567 - Ehlers-Danlos syndrome, classic type, 1

MONDO:0019567 - Ehlers-Danlos syndrome, classic type, 1

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

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

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