Term Name: | Ehlers-Danlos syndrome cardiac valvular type |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080730] ( DOID:0080730 ) |