loading...| Preferred Name |
TARP syndrome |
| Synonyms |
Pierre Robin sequence-congenital heart defect-talipes syndrome talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111780 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:725911008 UMLS_CUI:C1839463 GARD:10089 OMIM:311900 MESH:C536942 ORDO:2886 |
| 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. |
| has exact synonym |
Pierre Robin sequence-congenital heart defect-talipes syndrome talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111780 |
| in_subset | |
| label |
TARP syndrome |
| notation |
DOID:0111780 |
| prefLabel |
TARP syndrome |
| subClassOf |