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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 RBM10 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: DOID:9005152;   OMIM:311900
 xref: GARD:10089;   ORDO:2886
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:311900
ClinVar Annotator: match by term: TARP syndrome
OMIM
ClinVar
PMID:5410571, PMID:20451169, PMID:21910224, PMID:24259342, PMID:25741868 NCBI chr  X:1,754,869...1,786,973
Ensembl chr  X:1,754,861...1,786,978
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Weissenbacher-Zweymuller syndrome 47
        TARP syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Congenital Limb Deformities 503
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  Talipes 94
                    clubfoot 50
                      TARP syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.