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| Term | Andersen-Tawil syndrome | ID (Ontology) | DOID:0050434 (Human Disease) |
| 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. | ||
| Also Known As | "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS" ; "Andersen syndrome" ; "Long QT syndrome 7" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ intrinsic cardiomyopathy | |__long QT syndrome____________| Andersen-Tawil syndrome 1 rec. |
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| Is a |
autosomal dominant disease long QT syndrome |
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External Crossreferences & Linkouts
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GARD:9453 MESH:D050030 MIM:170390 NCI:C84559 ORDO:37553 SNOMEDCT_US_2023_03_01:422348008 UMLS_CUI:C1563715 |
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