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Disease Ontology Browser
Andersen-Tawil syndrome (DOID:0050434)
Alliance: disease page
Synonyms: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome; Long QT syndrome 7; LQT7; Potassium-Sensitive Cardiodysrhythmic Type
Alt IDs: OMIM:170390, MESH:D050030, NCI:C84559, ORDO:37553, UMLS_CUI:C1563715
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory