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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;   RBM10-RELATED CONDITION;   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: MIM:311900
 xref: GARD:10089;   ORDO:2886


show annotations for term's descendants           Sort by:
TARP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: RBM10-related condition ClinVar PMID:25741868 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RBM10-related condition | ClinVar Annotator: match by term: TARP syndrome		 OMIM
CTD
ClinVar		 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 19137
    Developmental Disease 14663
      congenital heart disease 1408
        TARP syndrome 2
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3457
            Congenital Limb Deformities 1071
              Lower Extremity Deformities, Congenital 200
                Congenital Foot Deformities 192
                  Talipes 50
                    clubfoot 37
                      TARP syndrome 2
paths to the root