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ONTOLOGY REPORT - ANNOTATIONS


Term:short-rib thoracic dysplasia 13 with or without polydactyly
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Accession:DOID:0110093 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. (DO)
Synonyms:exact_synonym: SRTD13
 primary_id: OMIM:616300;   RDO:9001552
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short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      asphyxiating thoracic dystrophy 41
        short-rib thoracic dysplasia 13 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        connective tissue disease 3934
          bone disease 3431
            bone development disease 1243
              osteochondrodysplasia 415
                asphyxiating thoracic dystrophy 41
                  short-rib thoracic dysplasia 13 with or without polydactyly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.