Search Ontology:
Human Disease

Loeys-Dietz syndrome 1

Term ID
DOID:0070235
Synonyms
  • AAT5
  • familial throacic aortic aneurysm 5
  • Furlong syndrome
  • LDS1
Definition
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/15731757
References
Ontology
Human Disease   ( DOID:0070235 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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