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Summary Literature (0)
DOID:0111154 - postural orthostatic tachycardia syndrome

Disease Ontology Definition:A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.

Synonyms: familial orthostatic tachycardia due to norepinephrine transporter deficiency, irritable heart, mitral valve prolapse syndrome, neurocirculatory asthenia, orhtostatic intolerance, orthostatic intolerance due to NET deficiency, postural tachycardia syndrome due to NET deficiency, soldiers heart

Xenbase Genes : slc6a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011479 - postural orthostatic tachycardia syndrome

MIM:
MIM:604715 - ORTHOSTATIC INTOLERANCE; ORSTI

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): heart conduction disease (is_a), monogenic disease (is_a)