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ONTOLOGY REPORT - ANNOTATIONS


Term:Tetraamelia Syndrome 2
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Accession:DOID:9004539 term browser browse the term
Synonyms:exact_synonym: Absence of upper and lower limbs with pulmonary hypoplasia;   Syndrome of tetraamelia with pulmonary hypoplasia;   TETAMS2;   tetra-amelia with pulmonary hypoplasia;   tetraamelia syndrome 2 with pulmonary agenesis
 primary_id: MESH:C536499
 alt_id: OMIM:618021;   RDO:0002101
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Tetraamelia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo2 R-spondin 2 JBrowse link 7 81,919,911 82,059,659 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      respiratory system disease 2409
        lung disease 1403
          Lung Agenesis 7
            Tetraamelia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        Congenital Abnormalities 3810
          Musculoskeletal Abnormalities 1345
            Congenital Limb Deformities 415
              Ectromelia 11
                Tetraamelia Syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.