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Andersen-Tawil syndrome

^ 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. [ url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome url:http://en.wikipedia.org/wiki/Long_QT_syndrome ]

Synonyms: ATS, Andersen syndrome , Long QT syndrome 7, Potassium-Sensitive Cardiodysrhythmic Type, LQT7, ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Term info

database cross reference
  • OMIM:170390
  • SNOMEDCT_US_2016_03_01:422348008
  • ORDO:37553
  • MESH:D050030
  • UMLS_CUI:C1563715
  • NCI:C84559
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050434