{"_id":"MONDO:0011479","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"66722-44-9","chemical_name":"Bisoprolol","direct_evidence":"therapeutic","mesh_chemical_id":"D017298","pubmed":"11198485","source":"CTD"},{"cas_registry_number":"127-31-1","chemical_name":"Fludrocortisone","direct_evidence":"therapeutic","mesh_chemical_id":"D005438","pubmed":"11198485","source":"CTD"},{"cas_registry_number":"114798-26-4","chemical_name":"Losartan","direct_evidence":"therapeutic","mesh_chemical_id":"D019808","pubmed":"17993594","source":"CTD"},{"cas_registry_number":"53230-10-7","chemical_name":"Mefloquine","direct_evidence":"marker/mechanism","mesh_chemical_id":"D015767","pubmed":"20860911","source":"CTD"},{"cas_registry_number":"525-66-6","chemical_name":"Propranolol","direct_evidence":"therapeutic","mesh_chemical_id":"D011433","pubmed":"20860911","source":"CTD"}],"mesh":"D054972"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:10273","DOID:0050177","DOID:630","DOID:4","DOID:1287","DOID:114","DOID:7","DOID:0060118"],"children":[],"def":"\"A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.\" [url:https\\://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome, url:https\\://www.ncbi.nlm.nih.gov/pubmed/23580201]","descendants":[],"doid":"DOID:0111154","name":"postural orthostatic tachycardia syndrome","parents":["DOID:0050177","DOID:10273"],"synonyms":{"exact":["familial orthostatic tachycardia due to norepinephrine transporter deficiency","irritable heart","mitral valve prolapse syndrome","orhtostatic intolerance","orthostatic intolerance due to NET deficiency","postural tachycardia syndrome due to NET deficiency","soldiers heart"]},"xrefs":{"gard":"9597","icd10":"I95.1","mesh":"D054972","mim":"604715","ordo":"443236"}},"hpo":{"clinical_course":{"biocuration":{"date":"2022-06-15","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":2,"freq_numerator":2,"hpo_id":"HP:0003621","hpo_name":"Juvenile onset","numeric_freq":1.0,"original_disease_id":"OMIM:604715","pmid_refs":"PMID:10684912"},"disease_name":"Orthostatic intolerance","inheritance":{"biocuration":[{"date":"2013-02-24","name":"HPO:probinson"},{"date":"2020-07-24","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:604715","pmid_refs":"PMID:10684912"},"omim":"604715","phenotype_related_to_disease":[{"biocuration":{"date":"2022-06-15","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":2,"freq_numerator":2,"hpo_id":"HP:0003345","numeric_freq":1.0,"original_disease_id":"OMIM:604715","pmid_refs":"PMID:10684912"},{"biocuration":[{"date":"2013-01-09","name":"HPO:probinson"},{"date":"2020-07-24","name":"HPO:probinson"},{"date":"2022-06-15","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":2,"freq_numerator":2,"hpo_id":"HP:0012173","numeric_freq":1.0,"original_disease_id":"OMIM:604715","pmid_refs":"PMID:10684912"}]},"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:0002602","MONDO:0005267","MONDO:0004995","MONDO:0001292","MONDO:0003620","MONDO:7770008","MONDO:0005071","MONDO:7770006","MONDO:0100547","MONDO:0044872","MONDO:0000992","MONDO:0700096","MONDO:0001315","MONDO:0003847","MONDO:0100545"],"definition":"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. [https://orcid.org/0000-0002-7638-4659, Orphanet:443236, PMID:34928881]","excluded_subClassOf":{"mondo":["MONDO:0015914"]},"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/11048"]},"label":"postural orthostatic tachycardia syndrome due to NET deficiency","mondo":"MONDO:0011479","parents":["MONDO:0000992","MONDO:0001315","MONDO:0100545","MONDO:0100547"],"synonym":{"exact":["familial orthostatic tachycardia due to norepinephrine transporter deficiency","orthostatic intolerance due to NET deficiency","postural orthostatic tachycardia syndrome due to NET deficiency"]},"xrefs":{"doid":["DOID:0111154"],"efo":["EFO:1000645"],"gard":["0013591"],"icd11":["foundation:1533647472"],"medgen":["226970"],"mesh":["D054972"],"ncit":["C85020"],"omim":["604715"],"orphanet":["443236"],"sctid":["371073003"],"umls":["C1299624"]}},"original_id":["UMLS:C1299624","UMLS:C2930833"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"non-preferred":"G90.A"},"mesh":{"non-preferred":"D054972","preferred":"D054972"},"nci":{"non-preferred":"C85020","preferred":"C85020"},"snomed":{"non-preferred":"371073003","preferred":"371073003"},"umls":"C1299624"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C531763","preferred":"C531763"},"umls":"C2930833"}]}