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DO Term : TARP syndrome [DOID:0111780] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • TARPS,
  • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome,
  • SNOMEDCT_US_2023_03_01:725911008,
  • MESH:C536942,
  • OMIM:311900,
  • ORDO:2886,
  • UMLS_CUI:C1839463,
  • 311900,
  • Pierre Robin sequence-congenital heart defect-talipes syndrome,
  • Pierre Robin syndrome-congenital heart defect-talipes syndrome,
  • GARD:10089
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