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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:long QT syndrome 4
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Accession:DOID:0111701 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)
Synonyms:exact_synonym: LQT4
 related_synonym: ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER;   ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER;   ANK2-RELATED AUTISM
 primary_id: MESH:C563428
 xref: GARD:10432


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long QT syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 ClinVar PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      long QT syndrome 292
        long QT syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                long QT syndrome 4 1
paths to the root