OBO ID: DOID:0070236
Term Name: Loeys-Dietz syndrome 5 Search Ontology:
Synonyms:
  • LDS5
  • Reinhoff syndrome
  • RNHF
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (2)
References:
Ontology: Human Disease   ( DOID:0070236 )
OTHER Loeys-Dietz syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFB3 Loeys-Dietz syndrome 5 615582
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None