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Metadata
ID DOID:0050434
Name Andersen-Tawil syndrome
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.
http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome, http://en.wikipedia.org/wiki/Long_QT_syndrome
Xrefs

GARD:9453

MESH:D050030

NCI:C84559

OMIM:170390

ORDO:37553

UMLS_CUI:C1563715

Subsets

NCIthesaurus

Synonyms

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS [EXACT]

Andersen syndrome [EXACT]

Long QT syndrome 7 [EXACT]

LQT7 [EXACT]

Potassium-Sensitive Cardiodysrhythmic Type [EXACT]

Parent Relationships

is_a long QT syndrome

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