|  Help  |  About  |  Contact Us

DO Term : Andersen-Tawil syndrome [DOID:0050434] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • Potassium-Sensitive Cardiodysrhythmic Type,
  • UMLS_CUI:C1563715,
  • ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS,
  • NCI:C84559,
  • Andersen syndrome,
  • 170390,
  • LQT7,
  • SNOMEDCT_US_2023_03_01:422348008,
  • Long QT syndrome 7,
  • OMIM:170390,
  • ORDO:37553,
  • GARD:9453,
  • MESH:D050030
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents