Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

NK2 HOMEOBOX 5
Synonyms

ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
ID

http://purl.bioontology.org/ontology/OMIM/600584
altLabel

ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS

INTERRUPTED AORTIC ARCH

TETRALOGY OF FALLOT

NKX2.5, MOUSE, HOMOLOG OF

NKX2E

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

VENTRICULAR SEPTAL DEFECT 3

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS, SOMATIC

ATRIAL SEPTAL DEFECT 7 WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

CSX1

CSX

DOUBLE-OUTLET RIGHT VENTRICLE

CARDIAC-SPECIFIC HOMEOBOX 1

TRUNCUS ARTERIOSUS

HYPOPLASTIC LEFT HEART SYNDROME 2

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5

ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC

NKX2-5

NK2, DROSOPHILA, HOMOLOG OF, E
cui

C1413784

C4015968

C0152419

C0039685

C4016679

C0013069

C0041206

C4016680

C1833590

C3280795

C2673630

C4016678

C3280785
Gene Locus

5q34
Gene Symbol

NKX2E

CHNG5

CSX

VSD3

HLHS2

NKX2-5
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600584.0014

http://purl.bioontology.org/ontology/OMIM/600584.0013

http://purl.bioontology.org/ontology/OMIM/600584.0001

http://purl.bioontology.org/ontology/OMIM/600584.0018

http://purl.bioontology.org/ontology/OMIM/600584.0006

http://purl.bioontology.org/ontology/OMIM/600584.0007

http://purl.bioontology.org/ontology/OMIM/600584.0005

http://purl.bioontology.org/ontology/OMIM/600584.0019

http://purl.bioontology.org/ontology/OMIM/600584.0011

http://purl.bioontology.org/ontology/OMIM/600584.0022

http://purl.bioontology.org/ontology/OMIM/600584.0010

http://purl.bioontology.org/ontology/OMIM/600584.0016

http://purl.bioontology.org/ontology/OMIM/600584.0002

http://purl.bioontology.org/ontology/OMIM/600584.0023

http://purl.bioontology.org/ontology/OMIM/600584.0003

http://purl.bioontology.org/ontology/OMIM/600584.0024

http://purl.bioontology.org/ontology/OMIM/600584.0017

http://purl.bioontology.org/ontology/OMIM/600584.0015

http://purl.bioontology.org/ontology/OMIM/600584.0008

http://purl.bioontology.org/ontology/OMIM/600584.0004

http://purl.bioontology.org/ontology/OMIM/600584.0009

http://purl.bioontology.org/ontology/OMIM/600584.0021

http://purl.bioontology.org/ontology/OMIM/600584.0020

http://purl.bioontology.org/ontology/OMIM/600584.0012
MIMTYPEMEANING

Gene with known sequence
notation

600584
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

NK2 HOMEOBOX 5
tui

T028

T019

T033

T018

T047
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http://purl.bioontology.org/ontology/ICD10CM/Q25.21 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q21.3 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q21.3 International Classification of Diseases, Version 10 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q20.1 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q20.1 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/D013771 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D004310 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D014338 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C567123 Medical Subject Headings CUI