Preferred Name |
ORTHOSTATIC INTOLERANCE |
Synonyms |
IRRITABLE HEART |
ID |
http://purl.bioontology.org/ontology/OMIM/604715 |
altLabel |
IRRITABLE HEART NEUROCIRCULATORY ASTHENIA SOLDIERS HEART MITRAL VALVE PROLAPSE SYNDROME |
cui |
C1535893 C0026267 C0027821 C2930833 |
Gene Locus |
16q12.2 |
Gene Symbol |
NET1 NAT1 SLC6A2 |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU074847 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU074848 http://purl.bioontology.org/ontology/OMIM/MTHU005009 http://purl.bioontology.org/ontology/OMIM/MTHU074845 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
604715 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
ORTHOSTATIC INTOLERANCE |
Scope Statement |
Caused by mutation in the solute carrier family 6, member-2 gene (SLC6A2, 163970.0001) [MOLECULAR BASIS] Based on a report of a family [MISCELLANEOUS] |
tui |
T033 T047 |