Homo sapiens
Female
single organism
White
SD JWS3V24D
cancer
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Renal dysplasia
The presence of developmental dysplasia of the kidney.
Bicuspid aortic valve
The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic ...
Renal neoplasm
The presence of a neoplasm of the kidney.
Congenital ptosis
A Phenotype
Aortic regurgitation
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aor...
BS 8616JQEC
A biosample produced as part of the SD JWS3V24D project
Renal cyst
A fluid filled sac in the kidney.
Polycystic kidney dysplasia
The presence of multiple cysts in both kidneys.
addcea62-7d5b-4f6b-8fc7-7b65a4fd4c56.CGP.filtered.deNovo.vep.vcf.gz
A file from Kids First produced from OBI:0002117 as part of the SD JWS3V24D project
dbfb8601-1d3f-4049-ab84-97a94e086e0a.variant calling summary metrics