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Symbol
Name
ID
Sox18
SRY (sex determining region Y)-box 18
MGI:103559
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Palmar telangiectasia
Pulmonary lymphangiectasia
Facial telangiectasia in butterfly midface distribution
Telangiectasia of extensor surfaces
Disease(s) Associated with SOX18
hypotrichosis-lymphedema-telangiectasia syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Mouse Phenotypes
cardiovascular system phenotype
abnormal blood vessel morphology
increased vascular endothelial cell number
abnormal pericyte morphology
hematoma
hemorrhage
abnormal vascular endothelial cell physiology
Availability Mouse Genotype
Sox18Ra-Op/Sox18Ra-Op *

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory