Summary Literature (0)

DOID:0050434 - Andersen-Tawil syndrome

Disease Ontology 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.

Synonyms: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS, ATS, Andersen syndrome , LQT7, Long QT syndrome 7, Potassium-Sensitive Cardiodysrhythmic Type,

Echinobase Genes :


OMIM:

MIM:170390 - andersen cardiodysrhythmic periodic paralysis

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee