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Preferred Name

CONOTRUNCAL HEART MALFORMATIONS
Synonyms

INTERRUPTED AORTIC ARCH
ID

http://purl.bioontology.org/ontology/OMIM/217095
altLabel

INTERRUPTED AORTIC ARCH

TRUNCUS ARTERIOSUS COMMUNIS

CAFS

CONOTRUNCAL ANOMALY FACE SYNDROME

PERSISTENT TRUNCUS ARTERIOSUS

DOUBLE-OUTLET RIGHT VENTRICLE

CTHM

DORV

PTA
cui

C1857586

C0041207

C0152419

C0013069

C0795907
Gene Locus

8p21
Gene Symbol

CSX2

NKX2-6

CTHM
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

217095
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CONOTRUNCAL HEART MALFORMATIONS
tui

T019

T047
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http://purl.bioontology.org/ontology/ICD10CM/Q25.21 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/C535464 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q20.1 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://www.orpha.net/ORDO/Orphanet_2445 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D014339 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/Q20.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D004062 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/Q20.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.obolibrary.org/obo/MONDO_0016581 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016581 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D004310 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q20.0 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI