ID

45374

Description

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

Link

dbGap-study=phs000490

Keywords

Versions (1)
  1. 11/4/22 11/4/22 - Chiara Middel
Copyright Holder

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

Uploaded on

November 4, 2022

DOI

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License

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

English

This dataset includes ICD9 codes of participants regarded as control subjects, medication prescribed, and basic demographic data.

10 forms  
pht002966
Description

pht002966

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

SUBJID

Data type

text

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

ORIGIN_ID

Data type

integer

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

Year_of_Birth

Data type

integer

Measurement units
  • Year
Alias
UMLS CUI [1,1]
C2826771
Year
Gender of participant as defined by genotype
Description

Sex_Genotype

Data type

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C0017431
Gender of participant as identified by medical records
Description

Sex_Med

Data type

text

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

Sex_Survey

Data type

text

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

Race_Med

Data type

text

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

Race_Survey

Data type

text

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

Affection_Status

Data type

text

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

Chip_Type

Data type

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C1285573
Endocrine and metabolic drugs that have been prescribed to the patient
Description

Endocrine_and_Metabolic_Drugs

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0356364
UMLS CUI [1,3]
C0311400
UMLS CUI [1,4]
C0013227
Anti-infective agents that have been prescribed to the patient
Description

Anti_Infective_Agents

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0003204
Respiratory agents that have been prescribed to the patient
Description

Respiratory_Agents

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0282686
Analgesics and anesthetics that have been prescribed to the patient
Description

Analgesics_and_Anesthetics

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0002771
UMLS CUI [1,3]
C0002932
Neuromuscular drugs that have been prescribed to the patient
Description

Neuromuscular_Drugs

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0027865
Nutritional products that have been prescribed to the patient
Description

Nutritional_Products

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C4036031
Topical products that have been prescribed to the patient
Description

Topical_Products

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0360289
Miscellaneous products that have been prescribed to the patient
Description

Miscellaneous_Products

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0301555
Gastrointestinal agents that have been prescribed to the patient
Description

Gastrointestinal_Agents

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0017173
Central nervous system drugs that have been prescribed to the patient
Description

Central_Nervous_System_Drugs

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0007680
Hematological agents that have been prescribed to the patient
Description

Hematological_Agents

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0018938
Cardiovascular agents that have been prescribed to the patient
Description

Cardiovascular_Agents

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0007220
Genitourinary products that have been prescribed to the patient
Description

Genitourinary_Products

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C1268853
Anti-neoplastic agents that have been prescribed to the patient
Description

Antineoplastic_Agents

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0003392
Other biological agents/drugs prescribed to the patient
Description

Biological

Data type

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0205394
UMLS CUI [1,3]
C0013227
UMLS CUI [1,4]
C3166216
Primary diagnosis as defined by ICD9 code(s)
Description

Primary_Diagnoses

Data type

text

Alias
UMLS CUI [1,1]
C0332137
UMLS CUI [1,2]
C2598420
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Similar models

This dataset includes ICD9 codes of participants regarded as control subjects, medication prescribed, and basic demographic data.

10 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002966
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 defined by genotype
text
C0079399 (UMLS CUI [1,1])
C0017431 (UMLS CUI [1,2])
Sex_Genotype
Code List
Gender of participant as defined by genotype
CL Item
Female (F)
CL Item
XXY (K1)
CL Item
XXY (X CNVs) (K2)
CL Item
F (X CNVs) (K3)
CL Item
XXY (X CNVs) (K4)
CL Item
Male (M)
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; Other (AA;OT)
CL Item
Black or African American; Native Hawaiian/Pacific Islander (AA;PI)
CL Item
Black or African American; Native Hawaiian/Pacific Islander; American Indian or Alaska Native (AA;PI;AI)
CL Item
Black or African American; Native Hawaiian/Pacific Islander; Other (AA;PI;OT)
CL Item
American Indian or Alaska Native (AI)
CL Item
American Indian or Alaska Native; Black or African American (AI;AA)
CL Item
American Indian or Alaska Native; Black or African American; European American (AI;AA;EA)
CL Item
Asian (AS)
CL Item
European American (EA)
CL Item
European American; Black or African American (EA;AA)
CL Item
European American; Black or African American; American Indian or Alaska Native (EA;AA;AI)
CL Item
European American; Black or African American; Hispanic/Latino (EA;AA;HI)
CL Item
European American; American Indian or Alaska Native (EA;AI)
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; 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 (EA;PI;AI)
CL Item
Hispanic/Latino (HI)
CL Item
Hispanic/Latino; Black or African American (HI;AA)
CL Item
Hispanic/Latino; Black or African American; Other (HI;AA;OT)
CL Item
Hispanic/Latino; American Indian or Alaska Native (HI;AI)
CL Item
Hispanic/Latino; European American (HI;EA)
CL Item
Hispanic/Latino; Other (HI;OT)
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)
CL Item
Native Hawaiian/Pacific Islander; Other (PI;OT)
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)
Endocrine_and_Metabolic_Drugs
Item
Endocrine and metabolic drugs that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0356364 (UMLS CUI [1,2])
C0311400 (UMLS CUI [1,3])
C0013227 (UMLS CUI [1,4])
Anti_Infective_Agents
Item
Anti-infective agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0003204 (UMLS CUI [1,2])
Respiratory_Agents
Item
Respiratory agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0282686 (UMLS CUI [1,2])
Analgesics_and_Anesthetics
Item
Analgesics and anesthetics that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0002771 (UMLS CUI [1,2])
C0002932 (UMLS CUI [1,3])
Neuromuscular_Drugs
Item
Neuromuscular drugs that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0027865 (UMLS CUI [1,2])
Nutritional_Products
Item
Nutritional products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C4036031 (UMLS CUI [1,2])
Topical_Products
Item
Topical products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0360289 (UMLS CUI [1,2])
Miscellaneous_Products
Item
Miscellaneous products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0301555 (UMLS CUI [1,2])
Gastrointestinal_Agents
Item
Gastrointestinal agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0017173 (UMLS CUI [1,2])
Central_Nervous_System_Drugs
Item
Central nervous system drugs that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0007680 (UMLS CUI [1,2])
Hematological_Agents
Item
Hematological agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0018938 (UMLS CUI [1,2])
Cardiovascular_Agents
Item
Cardiovascular agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0007220 (UMLS CUI [1,2])
Genitourinary_Products
Item
Genitourinary products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C1268853 (UMLS CUI [1,2])
Antineoplastic_Agents
Item
Anti-neoplastic agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0003392 (UMLS CUI [1,2])
Biological
Item
Other biological agents/drugs prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0013227 (UMLS CUI [1,3])
C3166216 (UMLS CUI [1,4])
Primary_Diagnoses
Item
Primary diagnosis as defined by ICD9 code(s)
text
C0332137 (UMLS CUI [1,1])
C2598420 (UMLS CUI [1,2])
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