Search Ontology:
Human Disease

Loeys-Dietz syndrome 4

Term ID
DOID:0070233
Synonyms
  • Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
  • LDS4
Definition
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. https://www.ncbi.nlm.nih.gov/pubmed/22772368
References
Ontology
Human Disease   ( DOID:0070233 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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