Search Ontology:
Human Disease
Andersen-Tawil syndrome
- Term ID
- DOID:0050434
- Synonyms
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- ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
- Andersen syndrome
- Long QT syndrome 7
- LQT7
- Potassium-Sensitive Cardiodysrhythmic Type
- 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. (2)
- References
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- GARD:9453
- MESH:D050030
- MIM:170390
- NCI:C84559
- ORDO:37553
- SNOMEDCT_US_2023_03_01:422348008
- UMLS_CUI:C1563715
- Ontology
- Human Disease ( DOID:0050434 )
- is a type of
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Genes Involved
Zebrafish Models