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 |
|
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 |
Create mapping