OBO ID: DOID:0070237
Term Name: Loeys-Dietz syndrome 3 Search Ontology:
Synonyms:
  • aneurysms-osteoarthritis syndrome
  • LDS1C
  • LDS3
  • Loeys-Dietz syndrome type 1C
  • Loeys-Dietz syndrome with osteoarthritis
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. https://www.ncbi.nlm.nih.gov/pubmed/21217753
References:
Ontology: Human Disease   ( DOID:0070237 )
Relationships
is a type of:
OTHER Loeys-Dietz syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMAD3 Loeys-Dietz syndrome 3 613795
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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