About   Help   FAQ
Disease Ontology Browser
Ehlers-Danlos syndrome classic type 1 (DOID:14720)
Alliance: disease page
Synonyms: Ehlers-Danlos syndrome, type 1; type I Ehlers-Danlos syndrome
Alt IDs: OMIM:130000, MESH:C536194, NCI:C125696, UMLS_CUI:C0268335
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.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory