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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 NW_004955559 1,085,033 1,102,501 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 11252
    syndrome 4494
      Basel-Vanagaite-Smirin-Yosef syndrome 1
Path 2
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  disease 11252
    Developmental Diseases 7825
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6738
        genetic disease 6291
          monogenic disease 4279
            autosomal genetic disease 3390
              autosomal dominant disease 2007
                complex cortical dysplasia with other brain malformations 459
                  Malformations of Cortical Development, Group I 327
                    microcephaly 204
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
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