Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

T-BOX TRANSCRIPTION FACTOR 1
Synonyms

CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME

DIGEORGE SYNDROME

T-BOX 1

TETRALOGY OF FALLOT

TBX1

VELOCARDIOFACIAL SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/602054

altLabel

CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME

DIGEORGE SYNDROME

T-BOX 1

TETRALOGY OF FALLOT

TBX1

VELOCARDIOFACIAL SYNDROME

cui

C0795907

C1420603

C0039685

C0220704

C0012236

Gene Locus

22q11.2

Gene Symbol

DORV

VCFS

CAFS

CTHM

TGA

DGS

DGCR

TBX1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602054.0004

http://purl.bioontology.org/ontology/OMIM/602054.0002

http://purl.bioontology.org/ontology/OMIM/602054.0006

http://purl.bioontology.org/ontology/OMIM/602054.0005

http://purl.bioontology.org/ontology/OMIM/602054.0001

http://purl.bioontology.org/ontology/OMIM/602054.0003

MIMTYPEMEANING

Gene with known sequence

notation

602054

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

T-BOX TRANSCRIPTION FACTOR 1

tui

T047

T019

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10066430 MEDDRA 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/ICD9CM/758.32 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10066430 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10066430 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X00mm RCD CUI
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D004062 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/5004-0080 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-00805 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-01532 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/767263007 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10043664 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000971 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10043664 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10084363 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10012979 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/0427-9991 CRISP CUI
http://purl.bioontology.org/ontology/ICD9CM/279.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10012979 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084363 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA26660-3 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D004062 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10043664 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/D82.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10084363 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10012979 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/767263007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/C3911 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/D82.1 ICD10CM CUI
http://www.orpha.net/ORDO/Orphanet_119953 ORDO LOOM