| Metadata | |
|---|---|
| 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/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |