OBO ID: DOID:0070235
Term Name: Loeys-Dietz syndrome 1 Search Ontology:
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 Loeys-Dietz syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBR1 Loeys-Dietz syndrome 1 609192
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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