SAMPLE_ID
Item
De-identified Sample ID
string
C2346787 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte Type
string
C4744818 (UMLS CUI [1,1])
IS_AUTISM
Item
Whether the participant was diagnosed with Autism Spectrum Disorder (ASD)
text
C1510586 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
IS_NEUROBEHAVIORAL
Item
Whether the participant was diagnosed with severe neurobehavioral disorder (typically ASD, intellectual disability, self-injurious behavior)
text
C2986478 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0011900 (UMLS CUI [1,3])
IS_NBU
Item
Whether the participant was seen in the Neurobehavioral Unit (NBU) at Kennedy Krieger Institute
text
C0035172 (UMLS CUI [1,1])
GENOTYPING_CENTER
Item
Name of the center which conducted genotyping
string
C1552456 (UMLS CUI [1,1])
C0796344 (UMLS CUI [1,2])
SEQUENCING_CENTER(WES)
Item
Name of the center which conducted whole exome sequencing (WES)
string
C1552456 (UMLS CUI [1,1])
C3640077 (UMLS CUI [1,2])
SEQUENCING_CENTER(WGS)
Item
Name of the center which conducted whole genome sequencing (WGS)
string
C1552456 (UMLS CUI [1,1])
C3640076 (UMLS CUI [1,2])