Preferred Name

T-BOX TRANSCRIPTION FACTOR 1

Synonyms

TETRALOGY OF FALLOT

ID

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

altLabel

TETRALOGY OF FALLOT

TBX1

T-BOX 1

DIGEORGE SYNDROME

VELOCARDIOFACIAL SYNDROME

CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME

cui

C0012236

C0039685

C0220704

C1420603

C0795907

Gene Locus

22q11.2

Gene Symbol

DGCR

DGS

TBX1

CAFS

DORV

CTHM

VCFS

TGA

Has allelic variant

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

602054

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

T-BOX TRANSCRIPTION FACTOR 1

tui

T028

T019

T047

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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD10CN/Q21.3 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/LNC/LA19623-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.3 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/ICD10/Q21.3 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/D82.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_119953 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D004062 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D004062 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D004062 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LA26660-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/D013771 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/D82.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bmicc.cn/ontology/ICD10CN/D82.1 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI