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Human Disease

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
Ontology
Human Disease   ( DOID:0080730 )
Relationships
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Genes Involved
Zebrafish Models