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An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

AttributesValues
type
subClassOf
label
  • TARP syndrome
described by
id
  • DOID:0111780
database_cross_reference
  • GARD:10089
  • MESH:C536942
  • OMIM:311900
  • ORDO:2886
  • SNOMEDCT_US_2021_09_01:725911008
  • UMLS_CUI:C1839463
has_exact_synonym
  • Pierre Robin syndrome-congenital heart defect-talipes syndrome
  • TARPS
  • Pierre Robin sequence-congenital heart defect-talipes syndrome
  • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 RBM10 on chromosome Xp11.3.
is topic of
is annotatedSource of
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