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ONTOLOGY REPORT - ANNOTATIONS


Term:Shukla-Vernon syndrome
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Accession:DOID:0111841 term browser browse the term
Definition:A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in BCORL1 on chromosome Xq26.1. (DO)
Synonyms:exact_synonym: SHUVER
 primary_id: OMIM:301029
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Shukla-Vernon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcorl1 BCL6 co-repressor-like 1 JBrowse link X 135,187,468 135,233,859 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Shukla-Vernon syndrome 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            X-linked monogenic disease 918
              X-linked recessive disease 246
                Shukla-Vernon 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.