| Metadata | |
|---|---|
| ID | DOID:0111154 |
| Name | postural orthostatic tachycardia syndrome |
| Definition | A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23580201 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial orthostatic tachycardia due to norepinephrine transporter deficiency [EXACT] irritable heart [EXACT] mitral valve prolapse syndrome [EXACT] neurocirculatory asthenia [EXACT] orhtostatic intolerance [EXACT] orthostatic intolerance due to NET deficiency [EXACT] postural tachycardia syndrome due to NET deficiency [EXACT] soldiers heart [EXACT] |
| Parent Relationships |
is_a monogenic disease |