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

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

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

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

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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_1000645 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D009449 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84973 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/D008945 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/I34.1 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026267 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/ICD10/I34.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/MESH/D054971 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D054971 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/MESH/C531763 Medical Subject Headings / 医学主题词表 CUI