OBO ID: DOID:0070234
Term Name: Loeys-Dietz syndrome 2 Search Ontology:
Synonyms:
  • AAT3
  • familial throacic aortic aneurysm 3
  • LDS2
  • Marfan syndrome type II
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (2)
References:
Ontology: Human Disease   ( DOID:0070234 )
Relationships
is a type of:
OTHER Loeys-Dietz syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBR2 Loeys-Dietz syndrome 2 610168
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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