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DO Term : Ehlers-Danlos syndrome cardiac valvular type [DOID:0080730] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:225320,
  • 225320
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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