OBO ID: DOID:0111780
Term Name: TARP syndrome Search Ontology:
Synonyms:
  • Pierre Robin sequence-congenital heart defect-talipes syndrome
  • Pierre Robin syndrome-congenital heart defect-talipes syndrome
  • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
  • TARPS
Definition: A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. (2)
References:
Ontology: Human Disease   ( DOID:0111780 )
OTHER TARP syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RBM10 TARP syndrome 311900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None