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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:Andersen-Tawil syndrome
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Accession:DOID:0050434 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO)
Synonyms:exact_synonym: ATS;   Andersen cardiodysrhythmic periodic paralysis;   Andersen cardiodysrythmic periodic paralysis;   Andersen syndrome;   LQT7;   long QT syndrome 7;   potassium-sensitive cardiodysrhythmic type;   potassium-sensitive cardiodysrhythmic type periodic paralysis;   potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
 primary_id: MESH:D050030
 alt_id: OMIM:170390
 xref: GARD:9453;   NCI:C84559;   ORDO:37553

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Andersen-Tawil syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features OMIM
ClinVar		 PMID:8078584 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 More... NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25417227 More... NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      long QT syndrome 281
        Andersen-Tawil syndrome 2
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal dominant disease 5744
                Andersen-Tawil syndrome 2
paths to the root