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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

OMIM:225320

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a autosomal recessive disease

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