ID

45374

Beskrivning

Principal Investigator: Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA MeSH: Asthma,Attention Deficit Disorder with Hyperactivity,Dermatitis, Atopic,Gastroesophageal Reflux,Lipoproteins, LDL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490 The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with *asthma*, *ADHD*, *atopic dermatitis*, *GERD* (1000 for each), and 1000 individuals on the upper and lower ranges of *Low-Density Lipoprotein* (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls. Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications. Further details of CAG's research programs and capacity are available at: http://www.caglab.org

Länk

dbGap-study=phs000490

Nyckelord

Versioner (1)
  1. 04-11-22 04-11-22 - Chiara Middel
Rättsinnehavare

Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

Uppladdad den

4 november 2022

DOI

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Licens

Creative Commons BY 4.0
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dbGaP phs000490 A Study of the Genetic Causes of Complex Pediatric Disorders

Engelsk

This dataset includes ICD9 codes of primary/secondary diagnoses of participants diagnosed with high or low Low-Density Lipoprotein levels, lipid procedure codes, data of lipid values and basic demographic data.

10 Formulär  
pht002969
Beskrivning

pht002969

Randomly-generated 6-digit ID code preceded by CHOP ID code (95)
Beskrivning

SUBJID

Datatyp

text

Alias
UMLS CUI [1,1]
C2348585
ID of eMERGE Consortium Site
Beskrivning

ORIGIN_ID

Datatyp

integer

Alias
UMLS CUI [1,1]
C2348585
Year of birth
Beskrivning

Year_of_Birth

Datatyp

integer

Måttenheter
  • Year
Alias
UMLS CUI [1,1]
C2826771
Year
Gender of participant as identified by medical records
Beskrivning

Sex_Med

Datatyp

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C0025102
Gender of participant as identified by survey of patient/patient's parent
Beskrivning

Sex_Survey

Datatyp

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C4042892
Ethnicity of participant as identified by medical records
Beskrivning

Race_Med

Datatyp

text

Alias
UMLS CUI [1,1]
C0025102
UMLS CUI [1,2]
C0015031
Ethnicity of participant as identified by patient/patient's parent
Beskrivning

Race_Survey

Datatyp

text

Alias
UMLS CUI [1,1]
C0015031
UMLS CUI [1,2]
C2700446
Indicates whether participant is a case or control
Beskrivning

Affection_Status

Datatyp

text

Alias
UMLS CUI [1,1]
C3274646
Array on which participants were genotyped
Beskrivning

Chip_Type

Datatyp

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C1285573
Primary diagnosis as defined by ICD9 code(s)
Beskrivning

Primary_Diagnoses

Datatyp

text

Alias
UMLS CUI [1,1]
C0332137
UMLS CUI [1,2]
C2598420
Secondary diagnoses as defined by ICD9 code(s)
Beskrivning

Secondary_Diagnoses

Datatyp

text

Alias
UMLS CUI [1,1]
C4489532
UMLS CUI [1,2]
C2598420
Codes for procedures/tests performed
Beskrivning

Lipid_procedure_codes

Datatyp

text

Alias
UMLS CUI [1,1]
C1550373
Low-density lipoprotein (LDL) values for all procedures/tests.
Beskrivning

LDL_Values

Datatyp

string

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0428474
mg/dL
Most recent LDL visit.
Beskrivning

Recent_LDL

Datatyp

string

Alias
UMLS CUI [1,1]
C1513491
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C0545082
Most recent low-density lipoprotein (LDL) value
Beskrivning

Recent_LDL_value

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C1513491
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C1522609
mg/dL
Most recent low-density lipoprotein (LDL) value.
Beskrivning

Recent_LDL_age_days

Datatyp

integer

Alias
UMLS CUI [1,1]
C1513491
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C1522609
Time of day of most recent visit in which LDL was recorded
Beskrivning

Recent_Time_of_Day

Datatyp

integer

Alias
UMLS CUI [1,1]
C0040223
UMLS CUI [1,2]
C1513491
UMLS CUI [1,3]
C1320303
UMLS CUI [1,4]
C0202117
Very low-density lipoprotein (VLDL) values for all procedures/tests performed
Beskrivning

VLDL_Values

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0523560
mg/dL
Human low-density lipoprotein (HLDL) values for all procedures/tests performed
Beskrivning

HDL_values

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0202117
mg/dL
Triglycerides values for all procedures/tests performed
Beskrivning

Trig_Values

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0202236
mg/dL
Maximum LDL values based on all visits
Beskrivning

LDL_MAX

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0806909
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C0545082
mg/dL
Minimum LDL values based on all visits
Beskrivning

LDL_Min

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C1524031
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C0545082
mg/dL
Number of visits in which LDL was recorded
Beskrivning

Visit_Count

Datatyp

integer

Alias
UMLS CUI [1,1]
C1265611
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C0545082
Mean LDL values based on all visits
Beskrivning

LDL_Mean

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0444504
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C0545082
mg/dL
Median LDL values based on all visits
Beskrivning

LDL_Median

Datatyp

integer

Måttenheter
  • mg/dL
Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C0545082
mg/dL
LDL percentile score
Beskrivning

Percentile

Datatyp

integer

Alias
UMLS CUI [1,1]
C0202117
UMLS CUI [1,2]
C1264641
UMLS CUI [1,3]
C0449820
Indicates whether individual's median LDL value was in the top 17% of all patients in CHOP database
Beskrivning

Top 17%

Datatyp

text

Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C1704458
UMLS CUI [1,4]
C1264641
UMLS CUI [1,5]
C0242356
Indicates whether individual's median LDL value was in the bottom 17% of all patients in CHOP database
Beskrivning

Bottom 17%

Datatyp

text

Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C1511276
UMLS CUI [1,4]
C0202117
UMLS CUI [1,5]
C0242356
Age equivalent LDL threshold for 10th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566). Individuals over 18 years of age were aligned with the threshold value for 18-year-olds.
Beskrivning

10th_Perc_Thresh

Datatyp

integer

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0205163
UMLS CUI [1,3]
C0449864
UMLS CUI [1,4]
C1511276
UMLS CUI [1,5]
C1264641
UMLS CUI [1,6]
C0282420
Age equivalent LDL threshold for 90th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566). Individuals over 18 years of age were aligned with the threshold value for 18-year-olds.
Beskrivning

90th_Perc_Thresh

Datatyp

integer

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0205163
UMLS CUI [1,3]
C0449864
UMLS CUI [1,4]
C1704458
UMLS CUI [1,5]
C1264641
UMLS CUI [1,6]
C0282420
Indicates whether individual's median LDL value was at the 10th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566)
Beskrivning

10th_Perc

Datatyp

text

Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C1511276
UMLS CUI [1,4]
C1264641
UMLS CUI [1,5]
C0282420
Indicates whether individual's median LDL value was at the 90th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566)
Beskrivning

90th_Perc

Datatyp

text

Alias
UMLS CUI [1,1]
C0876920
UMLS CUI [1,2]
C0202117
UMLS CUI [1,3]
C1704458
UMLS CUI [1,4]
C1264641
UMLS CUI [1,5]
C0282420
Tillbaka till toppen

Similar models

This dataset includes ICD9 codes of primary/secondary diagnoses of participants diagnosed with high or low Low-Density Lipoprotein levels, lipid procedure codes, data of lipid values and basic demographic data.

10 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht002969
SUBJID
Item
Randomly-generated 6-digit ID code preceded by CHOP ID code (95)
text
C2348585 (UMLS CUI [1,1])
Item
ID of eMERGE Consortium Site
integer
C2348585 (UMLS CUI [1,1])
ORIGIN_ID
Code List
ID of eMERGE Consortium Site
CL Item
CHOP (95)
Year_of_Birth
Item
Year of birth
integer
C2826771 (UMLS CUI [1,1])
Item
Gender of participant as identified by medical records
text
C0079399 (UMLS CUI [1,1])
C0025102 (UMLS CUI [1,2])
Sex_Med
Code List
Gender of participant as identified by medical records
CL Item
Female (F)
CL Item
Male (M)
Item
Gender of participant as identified by survey of patient/patient's parent
text
C0079399 (UMLS CUI [1,1])
C4042892 (UMLS CUI [1,2])
Sex_Survey
Code List
Gender of participant as identified by survey of patient/patient's parent
CL Item
Female (F)
CL Item
Male (M)
Item
Ethnicity of participant as identified by medical records
text
C0025102 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
Race_Med
Code List
Ethnicity of participant as identified by medical records
CL Item
Black or African American (AA)
CL Item
American Indian or Alaska Native (AI)
CL Item
Asian (AS)
CL Item
European American (EA)
CL Item
Hispanic/Latino (HI)
CL Item
Not Available/Missing (NA)
CL Item
Other (OT)
CL Item
Native Hawaiian/Pacific Islander (PI)
Item
Ethnicity of participant as identified by patient/patient's parent
text
C0015031 (UMLS CUI [1,1])
C2700446 (UMLS CUI [1,2])
Race_Survey
Code List
Ethnicity of participant as identified by patient/patient's parent
CL Item
Black or African American (AA)
CL Item
Black or African American; American Indian or Alaska Native (AA;AI)
CL Item
Black or African American; European American (AA;EA)
CL Item
Black or African American; Hispanic/Latino (AA;HI)
CL Item
Black or African American; Hispanic/Latino; European American (AA;HI;EA)
CL Item
Black or African American; Hispanic/Latino; Other (AA;HI;OT)
CL Item
Black or African American; Other (AA;OT)
CL Item
American Indian or Alaska Native (AI)
CL Item
American Indian or Alaska Native; European American (AI;EA)
CL Item
Asian (AS)
CL Item
European American (EA)
CL Item
European American; Native Hawaiian/Pacific Islander (EA; PI)
CL Item
European American; Black or African American (EA;AA)
CL Item
European American; Black or African American; Hispanic/Latino (EA;AA;HI)
CL Item
European American; American Indian or Alaska Native; Other (EA;AI;OT)
CL Item
European American; Hispanic/Latino (EA;HI)
CL Item
European American; Hispanic/Latino; Black or African American (EA;HI;AA)
CL Item
European American; Hispanic/Latino; Other (EA;HI;OT)
CL Item
European American; Other (EA;OT)
CL Item
European American; Native Hawaiian/Pacific Islander (EA;PI)
CL Item
European American; Native Hawaiian/Pacific Islander; American Indian or Alaska Native; Other (EA;PI;AI;OT)
CL Item
Hispanic/Latino (HI)
CL Item
Hispanic/Latino; Black or African American (HI;AA)
CL Item
Hispanic/Latino; Black or African American; European American (HI;AA;EA)
CL Item
Hispanic/Latino; European American (HI;EA)
CL Item
Hispanic/Latino; Other (HI;OT)
CL Item
Hispanic/Latino; Other; American Indian or Alaska Native (HI;OT;AI)
CL Item
Not Available/Missing (NA)
CL Item
Other (OT)
CL Item
Native Hawaiian/Pacific Islander (PI)
CL Item
Native Hawaiian/Pacific Islander; European American (PI;EA)
Item
Indicates whether participant is a case or control
text
C3274646 (UMLS CUI [1,1])
Affection_Status
Code List
Indicates whether participant is a case or control
CL Item
Control (1)
CL Item
Case (2)
Item
Array on which participants were genotyped
string
C1510941 (UMLS CUI [1,1])
C1285573 (UMLS CUI [1,2])
Chip_Type
Code List
Array on which participants were genotyped
CL Item
Illumina Human610-Quadv1 (QUAD)
CL Item
Illumina HumanHap550v1 (V1)
CL Item
Illumina HumanHap550v2 (V2)
CL Item
Illumina HumanHap550v3 (V3)
Item
Primary diagnosis as defined by ICD9 code(s)
text
C0332137 (UMLS CUI [1,1])
C2598420 (UMLS CUI [1,2])
Primary_Diagnoses
Code List
Primary diagnosis as defined by ICD9 code(s)
CL Item
Screening for lipoid disorders. Screening cholesterol level, screening for hypercholesterolemia, screening for hyperlipidemia (V77.91)
Secondary_Diagnoses
Item
Secondary diagnoses as defined by ICD9 code(s)
text
C4489532 (UMLS CUI [1,1])
C2598420 (UMLS CUI [1,2])
Item
Codes for procedures/tests performed
text
C1550373 (UMLS CUI [1,1])
Lipid_procedure_codes
Code List
Codes for procedures/tests performed
CL Item
weight managing counseling (9004)
CL Item
consult to endocrinology (9007)
CL Item
Consult to nutrition (9020)
CL Item
Consult to weight management (9227)
CL Item
Consult to healthy weight (1002002)
CL Item
Consult to healthy weight; weight managing counseling; consult to endocrinology; Consult to nutrition (1002002; 9004; 9007; 9020)
CL Item
Consult to healthy weight; weight managing counseling; consult to endocrinology; Consult to nutrition; Consult to nutrition (1002002; 9004; 9007; 9020; 9020)
CL Item
Consult to healthy weight; weight managing counseling; Consult to nutrition (1002002; 9004; 9020)
CL Item
Consult to healthy weight; weight managing counseling; Consult to nutrition; Consult to nutrition (1002002; 9004; 9020; 9020)
CL Item
Consult to healthy weight; consult to endocrinology; Consult to nutrition (1002002; 9007; 9020)
CL Item
Consult to healthy weight; consult to endocrinology; Consult to nutrition; Consult to nutrition (1002002; 9007; 9020; 9020)
CL Item
Consult to healthy weight; Consult to nutrition (1002002; 9020)
CL Item
Consult to healthy weight; Consult to nutrition; Consult to nutrition (1002002; 9020; 9020)
CL Item
weight managing counseling; consult to endocrinology (9004; 9007)
CL Item
weight managing counseling; consult to endocrinology; Consult to nutrition (9004; 9007; 9020)
CL Item
weight managing counseling; Consult to nutrition (9004; 9020)
CL Item
weight managing counseling; Consult to nutrition; Consult to nutrition (9004; 9020; 9020)
CL Item
consult to endocrinology; Consult to nutrition (9007; 9020)
CL Item
consult to endocrinology; Consult to nutrition; Consult to nutrition (9007; 9020; 9020)
CL Item
Consult to nutrition; Consult to nutrition (9020; 9020)
LDL_Values
Item
Low-density lipoprotein (LDL) values for all procedures/tests.
string
C0428474 (UMLS CUI [1,1])
Recent_LDL
Item
Most recent LDL visit.
string
C1513491 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C0545082 (UMLS CUI [1,3])
Recent_LDL_value
Item
Most recent low-density lipoprotein (LDL) value
integer
C1513491 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C1522609 (UMLS CUI [1,3])
Recent_LDL_age_days
Item
Most recent low-density lipoprotein (LDL) value.
integer
C1513491 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C1522609 (UMLS CUI [1,3])
Recent_Time_of_Day
Item
Time of day of most recent visit in which LDL was recorded
integer
C0040223 (UMLS CUI [1,1])
C1513491 (UMLS CUI [1,2])
C1320303 (UMLS CUI [1,3])
C0202117 (UMLS CUI [1,4])
VLDL_Values
Item
Very low-density lipoprotein (VLDL) values for all procedures/tests performed
integer
C0523560 (UMLS CUI [1,1])
HDL_values
Item
Human low-density lipoprotein (HLDL) values for all procedures/tests performed
integer
C0202117 (UMLS CUI [1,1])
Trig_Values
Item
Triglycerides values for all procedures/tests performed
integer
C0202236 (UMLS CUI [1,1])
LDL_MAX
Item
Maximum LDL values based on all visits
integer
C0806909 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C0545082 (UMLS CUI [1,3])
LDL_Min
Item
Minimum LDL values based on all visits
integer
C1524031 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C0545082 (UMLS CUI [1,3])
Visit_Count
Item
Number of visits in which LDL was recorded
integer
C1265611 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C0545082 (UMLS CUI [1,3])
LDL_Mean
Item
Mean LDL values based on all visits
integer
C0444504 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C0545082 (UMLS CUI [1,3])
LDL_Median
Item
Median LDL values based on all visits
integer
C0876920 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C0545082 (UMLS CUI [1,3])
Percentile
Item
LDL percentile score
integer
C0202117 (UMLS CUI [1,1])
C1264641 (UMLS CUI [1,2])
C0449820 (UMLS CUI [1,3])
Item
Indicates whether individual's median LDL value was in the top 17% of all patients in CHOP database
text
C0876920 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C1704458 (UMLS CUI [1,3])
C1264641 (UMLS CUI [1,4])
C0242356 (UMLS CUI [1,5])
Top 17%
Code List
Indicates whether individual's median LDL value was in the top 17% of all patients in CHOP database
CL Item
Yes (1)
CL Item
No (2)
Item
Indicates whether individual's median LDL value was in the bottom 17% of all patients in CHOP database
text
C0876920 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C1511276 (UMLS CUI [1,3])
C0202117 (UMLS CUI [1,4])
C0242356 (UMLS CUI [1,5])
Bottom 17%
Code List
Indicates whether individual's median LDL value was in the bottom 17% of all patients in CHOP database
CL Item
Yes (1)
CL Item
No (2)
10th_Perc_Thresh
Item
Age equivalent LDL threshold for 10th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566). Individuals over 18 years of age were aligned with the threshold value for 18-year-olds.
integer
C0001779 (UMLS CUI [1,1])
C0205163 (UMLS CUI [1,2])
C0449864 (UMLS CUI [1,3])
C1511276 (UMLS CUI [1,4])
C1264641 (UMLS CUI [1,5])
C0282420 (UMLS CUI [1,6])
90th_Perc_Thresh
Item
Age equivalent LDL threshold for 90th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566). Individuals over 18 years of age were aligned with the threshold value for 18-year-olds.
integer
C0001779 (UMLS CUI [1,1])
C0205163 (UMLS CUI [1,2])
C0449864 (UMLS CUI [1,3])
C1704458 (UMLS CUI [1,4])
C1264641 (UMLS CUI [1,5])
C0282420 (UMLS CUI [1,6])
Item
Indicates whether individual's median LDL value was at the 10th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566)
text
C0876920 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C1511276 (UMLS CUI [1,3])
C1264641 (UMLS CUI [1,4])
C0282420 (UMLS CUI [1,5])
10th_Perc
Code List
Indicates whether individual's median LDL value was at the 10th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566)
CL Item
Yes (1)
CL Item
No (2)
Item
Indicates whether individual's median LDL value was at the 90th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566)
text
C0876920 (UMLS CUI [1,1])
C0202117 (UMLS CUI [1,2])
C1704458 (UMLS CUI [1,3])
C1264641 (UMLS CUI [1,4])
C0282420 (UMLS CUI [1,5])
90th_Perc
Code List
Indicates whether individual's median LDL value was at the 90th percentile based on "Growth Curves for Cardio-Metabolic Risk Factors in Children and Adolescents" (Cook et al., 2009. PMID: 19732566)
CL Item
Yes (1)
CL Item
No (2)
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