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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 15489
    syndrome 5228
      Basel-Vanagaite-Smirin-Yosef syndrome 1
Path 2
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  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                complex cortical dysplasia with other brain malformations 493
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      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.