OBO ID: DOID:0070233
Term Name: Loeys-Dietz syndrome 4 Search Ontology:
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 Loeys-Dietz syndrome 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFB2 Loeys-Dietz syndrome 4 614816
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None