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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:tetraamelia syndrome
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Accession:DOID:0112191 term browser browse the term
Definition:A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. (DO)
Synonyms:exact_synonym: TETAMS;   Tetra-Amelia;   Tetra-Amelia Syndrome;   tetraamelia-multiple malformations syndrome
 xref: GARD:386;   ORDO:3301


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tetraamelia syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Tetraamelia syndrome 1 OMIM
ClinVar		 PMID:14872406 NCBI chr10:88,680,248...88,724,170
Ensembl chr10:88,680,248...88,724,099 		JBrowse link
tetraamelia syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo2 R-spondin 2 ISO ClinVar Annotator: match by term: Tetraamelia syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29769720 NCBI chr 7:74,096,378...74,239,398
Ensembl chr 7:74,103,090...74,238,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      tetraamelia syndrome 2
        Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
        Tetraamelia Multiple Malformations 0
        tetraamelia syndrome 1 1
        tetraamelia syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Musculoskeletal Abnormalities 3217
            Congenital Limb Deformities 1027
              Ectromelia 19
                tetraamelia syndrome 2
                  Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                  Tetraamelia Multiple Malformations 0
                  tetraamelia syndrome 1 1
                  tetraamelia syndrome 2 1
paths to the root