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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 BCORL1 on chromosome Xq26.1. (DO)
Synonyms:exact_synonym: SHUVER
 primary_id: OMIM:301029
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:25741868 PMID:30941876 NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Shukla-Vernon syndrome 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            X-linked monogenic disease 1017
              X-linked recessive disease 379
                Shukla-Vernon syndrome 1
paths to the root