has material basis in germline mutation in SLC6A2 heart conduction disease orthostatic intolerance postural orthostatic tachycardia syndrome due to NET deficiency https://github.com/monarch-initiative/mondo/issues/10150 https://github.com/monarch-initiative/mondo/issues/7679 https://github.com/obophenotype/human-phenotype-ontology/issues/7613 https://www.malacards.org/card/postural_orthostatic_tachycardia_syndrome soldiers heart A rare, genetic, primary orthostatic disorder caused by the impaired clearance of neurotransmitters at the synaptic cleft due to the deficiency of norepinephrine transporters (NET), characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. POTS OMIM:604715 NCIT:C85020 icd11.foundation:1533647472 MONDO:0011479 DOID:0111154 orthostatic intolerance due to NET deficiency Orphanet:443236 postural orthostatic tachycardia syndrome due to NET deficiency postural orthostatic tachycardia syndrome irritable heart EFO:1000645 UMLS:C1299624 GARD:0013591 SCTID:371073003 MEDGEN:226970 familial orthostatic tachycardia due to norepinephrine transporter deficiency MESH:D054972 primary orthostatic hypotension hereditary neurological disease cardiogenetic disease