| 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 |
SNOMEDCT_US_2023_03_01:422348008 |
| Subsets |
DO_rare_slim 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 |