RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. (DO)
Synonyms:
exact_synonym:
POTS; chronic orthostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; orhtostatic intolerance; orthostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome; postural tachycardia syndrome due to NET deficiency; soldiers heart