About: Andersen-Tawil syndrome

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About: Andersen-Tawil syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease long QT syndrome nodeID://b50936830 nodeID://b50936831
label	Andersen-Tawil syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050434
database_cross_reference	GARD:9453 MESH:D050030 NCI:C84559 OMIM:170390 ORDO:37553 SNOMEDCT_US_2021_09_01:422348008 UMLS_CUI:C1563715
has_exact_synonym	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (en) Andersen syndrome (en) LQT7 (en) Long QT syndrome 7 (en) Potassium-Sensitive Cardiodysrhythmic Type (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936832

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