Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ORTHOSTATIC INTOLERANCE
Synonyms

NEUROCIRCULATORY ASTHENIA

IRRITABLE HEART

MITRAL VALVE PROLAPSE SYNDROME

SOLDIERS HEART
ID

http://purl.bioontology.org/ontology/OMIM/604715
altLabel

NEUROCIRCULATORY ASTHENIA

IRRITABLE HEART

MITRAL VALVE PROLAPSE SYNDROME

SOLDIERS HEART
cui

C0027821

C2930833

C1535893

C0026267
Gene Locus

16q12.2
Gene Symbol

SLC6A2

NET1

NAT1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU074845

http://purl.bioontology.org/ontology/OMIM/MTHU037132

http://purl.bioontology.org/ontology/OMIM/MTHU074848

http://purl.bioontology.org/ontology/OMIM/MTHU074846

http://purl.bioontology.org/ontology/OMIM/MTHU005009

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU074847
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

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10014293 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/C531763 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10063927 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10029334 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10086448 MDRGER CUI
http://purl.bioontology.org/ontology/ICPC2P/P75002 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10014293 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10014293 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10007592 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002168 NDFRT CUI
http://purl.bioontology.org/ontology/CST/NEUROSIS COSTART CUI
http://purl.bioontology.org/ontology/SNMI/D3-10610 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D009449 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10086448 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10007655 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10029262 MDRFRE CUI
http://purl.bioontology.org/ontology/WHOFRE/0189 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10058076 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10029334 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/E262. RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10042803 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/191962000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10007655 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D009449 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10086448 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10042803 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10007592 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10029262 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10029334 MDRFRE CUI
http://purl.bioontology.org/ontology/WHO/0189 WHO-ART CUI
http://purl.bioontology.org/ontology/MEDDRA/10042803 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/306.2 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10029262 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10007592 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/191962000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10058076 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10058076 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10007655 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D9-86100 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10063927 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/870368003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10063927 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/870368003 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D054971 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D054971 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181223 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X200u RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10016786 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10027730 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10036853 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D3-29013 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/I34.1 ICD10 CUI
http://purl.bioontology.org/ontology/SCTSPA/409712001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026267 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10027730 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10016786 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10027717 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002020 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/409712001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10027717 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10036853 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D008945 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D008945 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D3-29014 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/8074002 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1390-4391 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10036853 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/K83005 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10027730 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X200z RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8074002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1393-3757 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10016786 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10027717 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/870368003 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906019644810070 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039970 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84973 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054971 RH-MESH LOOM
http://www.tcmkg.com/ISPO/ISPO_00002013 ISPO LOOM
http://identifiers.org/omim/604715 REXO LOOM
http://identifiers.org/omim/604715 GEXO LOOM
http://identifiers.org/omim/604715 RETO LOOM
http://purl.obolibrary.org/obo/NCIT_C84973 EPIO LOOM
http://purl.obolibrary.org/obo/NCIT_C84973 BERO LOOM
http://www.ebi.ac.uk/efo/EFO_1000645 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_1000645 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_1000645 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.177.575.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_604715 CCO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063927 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D054971 MESH LOOM
http://id.nlm.nih.gov/mesh/D054971 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.888.592.610 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0026091 OMIT LOOM