Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

T-BOX 1

Synonyms

TETRALOGY OF FALLOT

ID

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

altLabel

TETRALOGY OF FALLOT

TBX1

DIGEORGE SYNDROME

VELOCARDIOFACIAL SYNDROME

CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME

cui

C0012236

C0039685

C0220704

C1420603

C4016770

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 1

tui

T028

T019

T033

T047

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