Ehlers-Danlos syndrome cardiac valvular type Disease Ontology Browser

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Disease Ontology Browser

Ehlers-Danlos syndrome cardiac valvular type (DOID:0080730)
Alliance: disease page
Alt IDs: OMIM:225320
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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