Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

NK2 HOMEOBOX 5
Synonyms

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
ID

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

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5

ATRIAL SEPTAL DEFECT 7 WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

HYPOPLASTIC LEFT HEART SYNDROME 2

VENTRICULAR SEPTAL DEFECT 3

CSX1

TRUNCUS ARTERIOSUS

NKX2-5

NKX2.5, MOUSE, HOMOLOG OF

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

CSX

ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS

ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC

NKX2E

INTERRUPTED AORTIC ARCH

TETRALOGY OF FALLOT

CARDIAC-SPECIFIC HOMEOBOX 1

DOUBLE-OUTLET RIGHT VENTRICLE

NK2, DROSOPHILA, HOMOLOG OF, E
cui

C0152419

C0013069

C0039685

C4016679

C3280785

C1833590

C4016678

C4016680

C1413784

C3280795

C2673630

C0041206
Gene Locus

5q34
Gene Symbol

CHNG5

HLHS2

NKX2E

VSD3

CSX

NKX2-5
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

600584
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

NK2 HOMEOBOX 5
tui

T018

T047

T033

T019

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q25.21 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/C567123 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58140002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/P713. RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-32024 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/747.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10022599 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/218728005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10022599 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10022599 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/218728005 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD9CM/745.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10013611 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/7484005 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000994 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D004310 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D004310 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/P511. RCD CUI
http://purl.bioontology.org/ontology/ICD10/Q20.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10013611 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31030 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10013611 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7484005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10016193 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86299006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/86299006 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10/Q21.3 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/P52.. RCD CUI
http://purl.bioontology.org/ontology/CSP/0724-9541 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016192 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10016193 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10016191 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10043384 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10043384 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10016192 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013771 MESH CUI
http://purl.bioontology.org/ontology/LNC/LA19623-0 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10016191 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10016193 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002917 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10016191 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/TETRAL%20FALLOT COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10043384 MDRFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/K73013 ICPC2P CUI
http://purl.bioontology.org/ontology/ICD9CM/745.2 ICD9CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D013771 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10016192 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.3 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31110 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/T-F6830 SNMI CUI
http://purl.bioontology.org/ontology/RCD/XaBcz RCD CUI
http://purl.bioontology.org/ontology/MESH/D014338 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D014338 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/58140002 SCTSPA CUI
http://www.orpha.net/ORDO/Orphanet_123797 ORDO LOOM