Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: col5a1 (Dre)
Disease
Source: DOID:37
Definition: An integumentary system disease that is located_in skin.
Genes: col5a1 (Dre)
Disease
Source: DOID:13359
Definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Genes: col5a1 (Dre)
Source: DOID:14720
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.
Genes: col5a1 (Dre)