AboutBlogDownloadExploreHelpGet Data

Disease Ontology Term: TARP syndrome

DO ID
DOID:0111780
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 RBM10 on chromosome Xp11.3.
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
View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

Ontology Diagram

Reset

Click on a Disease Ontology term to go to its specific page within SGD; drag any of the Disease Ontology term objects around within the visualization for easier viewing; click “Reset” to automatically redraw the diagram.

Annotations

Manually Curated

Increase the total number of rows showing on this page using the pull-down located below the table, or use the page scroll at the table's top right to browse through the table's pages; use the arrows to the right of a column header to sort by that column; filter the table using the "Filter" box at the top of the table.

Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

High-throughput

Increase the total number of rows showing on this page using the pull-down located below the table, or use the page scroll at the table's top right to browse through the table's pages; use the arrows to the right of a column header to sort by that column; filter the table using the "Filter" box at the top of the table.

Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

Computational

Increase the total number of rows showing on this page using the pull-down located below the table, or use the page scroll at the table's top right to browse through the table's pages; use the arrows to the right of a column header to sort by that column; filter the table using the "Filter" box at the top of the table.

Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference