English

This subject phenotype data table contains disease onset age, height at enrollment, birthplace, sex, race, CXCR4 status, age, and presence of clinical characteristics of WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis).

5 forms  
pht004459
Description

pht004459

Alias
UMLS CUI [1,1]
C3846158
Anonymized Subject ID
Description

SUBJECT_ID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Disease onset age
Description

AGE_ONSET

Data type

text

Measurement units
  • years
Alias
UMLS CUI [1,1]
C0206132
years
Height measured at enrollment
Description

HEIGHT

Data type

text

Measurement units
  • inches
Alias
UMLS CUI [1,1]
C0005890
UMLS CUI [1,2]
C1516879
inches
Place of subject's birth
Description

BIRTHPLACE

Data type

string

Alias
UMLS CUI [1,1]
C0032040
Gender of participant
Description

SEX

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant
Description

RACE

Data type

string

Alias
UMLS CUI [1,1]
C0034510
Germline mutation in CXCR4 (Entrez GeneID: 7852)
Description

CXCR4

Data type

string

Alias
UMLS CUI [1,1]
C1332823
UMLS CUI [1,2]
C3845275
UMLS CUI [1,3]
C0026882
Subject age
Description

AGE

Data type

text

Measurement units
  • years
Alias
UMLS CUI [1,1]
C0001779
years
Presence of warts
Description

WARTS

Data type

text

Alias
UMLS CUI [1,1]
C0343642
Presence of hypogammaglobulinemia
Description

HYPOGAMMAGLOB.

Data type

text

Alias
UMLS CUI [1,1]
C0086438
Recurrent infections
Description

INFECTIONS

Data type

text

Alias
UMLS CUI [1,1]
C0239998
Presence of myelokathexis
Description

MYELOKATHEXIS

Data type

text

Alias
UMLS CUI [1,1]
C0272173
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Similar models

This subject phenotype data table contains disease onset age, height at enrollment, birthplace, sex, race, CXCR4 status, age, and presence of clinical characteristics of WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis).

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht004459
C3846158 (UMLS CUI [1,1])
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])
SEX
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
Other (3)
CL Item
Not applicable (NA)
C1272460 (UMLS CUI [1,1])
CL Item
Unknown (UNK)
Item
Race of participant
string
C0034510 (UMLS CUI [1,1])
RACE
Code List
Race of participant
CL Item
African American (African American)
CL Item
Asian (Asian)
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])
WARTS
Code List
Presence of warts
CL Item
absent (N)
CL Item
present (Y)
Item
Presence of hypogammaglobulinemia
text
C0086438 (UMLS CUI [1,1])
HYPOGAMMAGLOB.
Code List
Presence of hypogammaglobulinemia
CL Item
absent (N)
CL Item
present (Y)
Item
Recurrent infections
text
C0239998 (UMLS CUI [1,1])
INFECTIONS
Code List
Recurrent infections
CL Item
absent (N)
CL Item
present (Y)
Item
Presence of myelokathexis
text
C0272173 (UMLS CUI [1,1])
MYELOKATHEXIS
Code List
Presence of myelokathexis
CL Item
absent (N)
CL Item
present (Y)
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