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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 Tawil syndrome
ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by OMIM:170390
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Andersen Syndrome
OMIM
ClinVar
CTD
PMID:8078584 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      long QT syndrome 251
        Andersen-Tawil syndrome 2
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal dominant disease 4485
                Andersen-Tawil syndrome 2
paths to the root