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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the BCORL1 gene on chromosome Xq26.1. (DO)
Synonyms:exact_synonym: SHUVER
 primary_id: MIM:301029
 xref: EFO:0010278


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Shukla-Vernon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Shukla-Vernon syndrome OMIM
ClinVar		 PMID:24047651 PMID:24896186 PMID:25596268 PMID:25741868 PMID:26132940 More... NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Shukla-Vernon syndrome 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            X-linked monogenic disease 1454
              X-linked recessive disease 660
                Shukla-Vernon syndrome 1
paths to the root