Terminology Service for NFDI4Health

Andersen-Tawil syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050434


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://purl.obolibrary.org/obo/ECO_0007638 ]

Term info

Label

Andersen-Tawil syndrome

Synonyms
  • ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
  • Andersen syndrome
  • LQT7
  • Long QT syndrome 7
  • Potassium-Sensitive Cardiodysrhythmic Type
database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050434