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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:TARP syndrome
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Accession:DOID:0111780 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Pierre Robin sequence-congenital heart defect-talipes syndrome;   Pierre Robin syndrome with congenital heart malformation and clubfoot;   Pierre Robin syndrome-congenital heart defect-talipes syndrome;   TARPS;   talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left superior vena cava;   talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
 primary_id: MESH:C536942
 alt_id: OMIM:311900
 xref: GARD:10089;   ORDO:2886


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TARP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital heart disease 1349
        TARP syndrome 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Lower Extremity Deformities, Congenital 183
                Congenital Foot Deformities 175
                  Talipes 47
                    clubfoot 34
                      TARP syndrome 1
paths to the root