Homo sapiens
Male
single organism
Asian
SD 54G4WG4R
not Hispanic or Latino
CHARGE syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Abnormal foot morphology
An abnormality of the skeleton of foot.
Macrocephaly
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched,...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through...
Hypothyroidism
Deficiency of thyroid hormone.
BS 34G4AK7K
A biosample from Kids First produced as part of the SD 54G4WG4R project
Pulmonary arterial hypertension
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary cap...
Myopia
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objec...
2212a770-1bba-46d1-a296-19845aa44119.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi
A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
ebfc3d87-2b87-4a85-9d31-71dbc52ec589.peddy.sex check.csv
ebfc3d87-2b87-4a85-9d31-71dbc52ec589.variant calling detail metrics