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Entry | Name | Description | Category | Pathway | Gene |
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H00802 | Ehlers-Danlos syndrome | Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other ... | Congenital malformation |
(EDSCL1) COL5A1 [HSA:1289] [KO:K19721] (EDSCL2) COL5A2 [HSA:1290] [KO:K19721] (EDSCLL) TNXB [HSA:7148] [KO:K06252] (EDSCLL2) AEBP1 [HSA:165] [KO:K21392] |
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H02719 | Multifocal fibromuscular dysplasia | ... fibroplasia, and angiographically by multiple arterial stenoses with intervening mural dilations. A mutation in the COL5A1 gene, encoding collagen type V alpha 1 chain, has been reported in patients with FMDMF. | Cardiovascular disease | COL5A1 [HSA:1289] [KO:K19721] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |