Search Ontology:
Human Disease

Loeys-Dietz syndrome 6

Term ID
DOID:0060964
Synonyms
Definition
A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/30157302/
References
Ontology
Human Disease   ( DOID:0060964 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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