Homo sapiens
Female
single organism
White
SD BHJXBDQK
not Hispanic or Latino
cancer
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Abnormality of the nervous system
An abnormality of the nervous system.
Laryngomalacia
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is flop...
BS EW74HRQW
A biosample from Kids First produced as part of the SD BHJXBDQK project
BS XCFNEZ8E
Abnormal facial skeleton morphology
An abnormality of one or more of the set of bones that make up the facial skeleton.
Abnormal skull morphology
An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (...
BS 4W1DBAN4
Megalencephaly
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without over...
9fcecd83-591e-406b-9bb2-22906e118564.strelka2 somatic.norm.annot.protected.vcf.gz.tbi
A file from Kids First produced from OBI:0002117 as part of the SD BHJXBDQK project
5540626e-984e-465c-8e51-e725b28edff6.gatk cnv.funcotated.tsv.gene list.txt