SUBJECT_ID
Item
Anonymized Subject ID
text
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
AGE_ONSET
Item
Disease onset age
text
C0206132 (UMLS CUI [1,1])
HEIGHT
Item
Height measured at enrollment
text
C0005890 (UMLS CUI [1,1])
C1516879 (UMLS CUI [1,2])
BIRTHPLACE
Item
Place of subject's birth
string
C0032040 (UMLS CUI [1,1])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
CL Item
Not applicable (NA)
C1272460 (UMLS CUI [1,1])
Item
Race of participant
string
C0034510 (UMLS CUI [1,1])
Code List
Race of participant
CL Item
African American (African American)
CL Item
Caucasian (Caucasian)
CL Item
Hispanic (Hispanic)
CL Item
Non-hispanic (Non-hispanic)
CXCR4
Item
Germline mutation in CXCR4 (Entrez GeneID: 7852)
string
C1332823 (UMLS CUI [1,1])
C3845275 (UMLS CUI [1,2])
C0026882 (UMLS CUI [1,3])
AGE
Item
Subject age
text
C0001779 (UMLS CUI [1,1])
Item
Presence of warts
text
C0343642 (UMLS CUI [1,1])
Code List
Presence of warts
Item
Presence of hypogammaglobulinemia
text
C0086438 (UMLS CUI [1,1])
Code List
Presence of hypogammaglobulinemia
Item
Recurrent infections
text
C0239998 (UMLS CUI [1,1])
Code List
Recurrent infections
Item
Presence of myelokathexis
text
C0272173 (UMLS CUI [1,1])
Code List
Presence of myelokathexis