Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
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
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q25.21 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C535464 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q20.1 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D014339 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10/Q20.0 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D004062 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10/Q20.1 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/D004310 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q20.0 International Classification of Diseases, 10th Edition, China CUI