Search Ontology:
Human Disease

Loeys-Dietz syndrome 3

Term ID
DOID:0070237
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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