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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)
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11/12/2024
MGI 6.24 		The Jackson Laboratory