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ID | DOID:0080730 |
Name | Ehlers-Danlos syndrome cardiac valvular type |
Definition | An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/16816023/ |
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