Homo sapiens
Male
single organism
White
SD JK4Z4T6V
Hispanic or Latino
visceral heterotaxy
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Abnormal cardiovascular system morphology
Any structural anomaly of the heart and blood vessels.
Anal atresia
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Horseshoe kidney
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous t...
Ambiguous genitalia
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be ev...
Bifid scrotum
Midline indentation or cleft of the scrotum.
BS MDW6QGDX
A biosample from Kids First produced as part of the SD JK4Z4T6V project
b92fe58c-24c9-4fda-a972-a76ed1a48211.variant calling detail metrics
A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V project
b92fe58c-24c9-4fda-a972-a76ed1a48211.CGP.filtered.deNovo.vep.vcf.gz.tbi
b92fe58c-24c9-4fda-a972-a76ed1a48211.peddy.vs.html
b92fe58c-24c9-4fda-a972-a76ed1a48211.CGP.filtered.deNovo.vep.vcf.gz