Ehlers-Danlos syndrome cardiac valvular type

Term ID

DOID:0080730

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. https://pubmed.ncbi.nlm.nih.gov/16816023/

References

• OMIM:225320

Ontology

Human Disease   ( DOID:0080730 )