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| Term | TARP syndrome | ID (Ontology) | DOID:0111780 (Human Disease) |
| 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. | ||
| Also Known As | "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" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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monogenic disease |__X-linked monogenic disease__ disease | |__syndrome____________________| TARP syndrome 2 rec. |
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X-linked monogenic disease syndrome |
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GARD:10089 MESH:C536942 MIM:311900 ORDO:2886 SNOMEDCT_US_2023_03_01:725911008 UMLS_CUI:C1839463 |
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