Term Name: Ehlers-Danlos syndrome cardiac valvular type
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 )

Relationships
is a type of: autosomal recessive disease Ehlers-Danlos syndrome