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ONTOLOGY REPORT - ANNOTATIONS


Term:Basel-Vanagaite-Smirin-Yosef syndrome
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Accession:DOID:9005442 term browser browse the term
Definition:An autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. (OMIM)
Synonyms:exact_synonym: BVSYS
 primary_id: OMIM:616449
 alt_id: RDO:9001374
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Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Basel-Vanagaite-Smirin-Yosef syndrome 1
Path 2
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  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              dysostosis 319
                synostosis 211
                  craniosynostosis 171
                    Crouzon syndrome 23
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.