0 Ratings
ID

45855

Description

Principal Investigator: John B. Harley, MD (Cytogenetics-Obesity, FSR, DSR, CLRR), National Institutes of Health, Bethesda, MD, USA MeSH: NA,Arthritis, Juvenile,Child Development Disorders, Pervasive,Cholangitis, Sclerosing,Developmental Disabilities,Eosinophilic Esophagitis,Hernia, Diaphragmatic,Infection,Lupus Erythematosus, Systemic,Neutropenia,Pediatric Obesity,Polymicrogyria,Rheumatic Diseases,Staphylococcus aureus https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001011 This submission includes genotyping or sequencing data from separate cohorts, each is described in separate paragraphs below. **Extreme early onset obesity** Obesity is a serious epidemic condition and on the rise in the United States. Today, nearly one out of three children is overweight or obese in this country. According to the Center for Disease Control, 35.7% of American adults and 17% of American children are obese. The medical costs associated with obesity are estimated to be in the billions. Without a doubt, interplay of additive genetic effects and common environmental effects influence this complex disease. However, despite being exposed to so-called "obesogenic environment", a large proportion of the population remains of normal weight. These observations suggest that innate, non-environmental, factors make some individuals more susceptible to obesity providing support for biological mechanisms, and thus genetic factors, to underlie the individual's response to the obesogenic environment. In young children with severe obesity the relative role of genetics and in utero programming are likely to outweigh the short duration of environmental and lifestyle exposures. This group is therefore an ideal one to study as they are likely enriched for variants that influence the risk of developing obesity. The purpose of this project is to further study and understand obesity in childhood and to develop a repository of samples for future studies into obesity. **Eosinophilic Esophagitis (EoE)** Eosinophilic Esophagitis (EoE) is one of the manifestations of eosinophilic gastrointestinal inflammation which have profound effects on a patient's health and development. Results of epidemiologic studies performed through our center demonstrate that eosinophil-associated gastrointestinal disease is not an uncommon entity. While the epidemiology of eosinophilic esophagitis has not been thoroughly studied until recently, there appears to be a significant increase in the diagnosis of EoE in the last decade. Based on our research, this mainly reflects increased disease recognition, but there is also a bona-fide increase in disease incidence which coincides with the increasing incidence of asthma and allergic diseases in the industrialized world. In addition, many patients with intractable symptoms thought in the past to represent atypical GERD or other disorders are now being recognized as having EoE. Diagnosis of EoE requires endoscopy and biopsies to document the characteristic histologic findings of esophageal eosinophilia. In general, this study proposed to elucidate the mechanisms underlying eosinophil growth, survival, migration, and function, and to investigate and further characterize the pathophysiology of, clinical manifestations of, and spectrum of disease severity of eosinophilic esophagitis in humans. The de-identified genotyping and genome wide association data generated as part of this research will be used for further genome research. **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)** *De novo* mutations could cause many diseases, which has been demonstrated in mental retardation, autism and many rare genetic disorders. Family-based studies have a variety of advantages over case/control studies, including the elimination of analysis artifacts related to population stratification, the detection of genes that act through a recessive mechanism of inheritance and validation that the trait is not transmitted from a parent, something not possible using a case/control design. Additionally, DNA from families can be used to identify *de novo* mutations suggesting strong candidate causal polymorphisms. For this project, samples will be collected from families on an on-going basis. Families may be recruited because the patient either has a disease which is thought to be of genetic origin or from the general patient population to serve as controls or future identified diseases. Some phenotypes under study include fibroblastic rheumatism, diaphragmatic hernia, polymicrogyria, severe congenital neutropenia, primary sclerosing cholangitis and staph infection. **CLRR-Cincinnati Lupus Registry and Repository** Systemic lupus erythematosus (SLE) is a complex, partially understood autoimmune disorder. Genetic origins for SLE are supported by high heritability ( 66%), familial aggregation, increased monozygotic twin concordance, genetic linkages, and candidate gene genetic association, including HLA genes, Fc receptors, and complement components. Relevant environmental factors likely include infections (Epstein-Barr virus), therapeutics, personal habits (smoking), and diet. To continue a research resource facility for collection of well-characterized pedigrees containing a proband with systemic lupus erythematosus we develop this repository. **Juvenile Idiopathic Arthritis (JIA)** Juvenile Idiopathic Arthritis (JIA) is a debilitating complex genetic disorder characterized by inflammation of the joints and other tissues and shares histopathological features with other autoimmune diseases. It is considered complex genetic traits. There are more than 50,000 children with JIA in the USA, approximately 1 per 1000 births, which is about the same incidence as juvenile diabetes. It is believed that genes in the major histocompatibility complex (MHC) play a role in defining genetic risk, and it can be hypothesized that loci in other chromosomal regions are involved in conferring risk in JIA. These candidate chromosomal regions can be identified using genome-wide association analyses. The long-term goal is a comprehensive understanding of the genetic basis of these disabling arthropathies for which the molecular basis is not presently understood. These data will contribute to a national resource for the study of autoimmunity in children. **Better Outcomes for Children-Cytogenetics** Since 2007, more than 4000 samples, enriched with various rare or common genetic diseases as well as specific chromosomal abnormalities such as deletions and duplications have been genotyped for the purpose of subsequent GWAS and Phewas analyses and uncovering main genetic effects.

Link

dbGaP study = phs001011

Keywords

Versions (1)
  1. 10/2/23 10/2/23 - Simon Heim
Copyright Holder

John B. Harley, MD (Cytogenetics-Obesity, FSR, DSR, CLRR), National Institutes of Health, Bethesda, MD, USA

Uploaded on

October 2, 2023

DOI

To request one please log in.

License

Creative Commons BY 4.0
Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Back to model comments
Itemgroup comments for :

Item comments for :

  • Newest
  • Oldest
  • Popular
  • Newest
    • Newest
    • Oldest
    • Popular

    No comments

    In order to download data models you must be logged in. Please log in or register for free.

    dbGaP phs001011 CCHMC-eMERGE-Phase IIIA

    English

    Eligibility Criteria

    6 forms  
    Inclusion and exclusion criteria
    Description

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    **Extreme early onset obesity**
    Description

    **Extreme early onset obesity**

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C4013980
    Using natural language processing we have developed and validated an NLP algorithm to detect cases and controls for extreme childhood obesity. Details of this algorithm can be found on the emerge network page (https://phekb.org), briefly:
    Description

    Using natural language processing we have developed and validated an NLP algorithm to detect cases and controls for extreme childhood obesity. Details of this algorithm can be found on the emerge network page (https://phekb.org), briefly:

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0027489
    UMLS CUI [1,2]
    C1527148
    UMLS CUI [1,3]
    C1519941
    UMLS CUI [1,4]
    C0683473
    UMLS CUI [1,5]
    C1511790
    UMLS CUI [1,6]
    C1706256
    UMLS CUI [1,7]
    C4553389
    UMLS CUI [1,8]
    C4013980
    Case inclusion:Height/Weight measurement is available for same day
    Description

    Case inclusion:Height/Weight measurement is available for same day

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0085973
    UMLS CUI [1,2]
    C1512693
    UMLS CUI [1,3]
    C0005910
    UMLS CUI [1,4]
    C0005890
    UMLS CUI [1,5]
    C1292424
    Age (in days at time of measurement): > 365 days and < 2190 days
    Description

    Age (in days at time of measurement): > 365 days and < 2190 days

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C5239163
    2 or more BMI measurement ≥ 99th percentile
    Description

    2 or more BMI measurement ≥ 99th percentile

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1305855
    UMLS CUI [1,2]
    C0242485
    UMLS CUI [1,3]
    C4696025
    UMLS CUI [1,4]
    C0439547
    More than 50% of BMI Measurements > 76th percentile
    Description

    More than 50% of BMI Measurements > 76th percentile

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1305855
    UMLS CUI [1,2]
    C0242485
    UMLS CUI [1,3]
    C1532337
    UMLS CUI [1,4]
    C4321352
    Control inclusion:Age (in days) at measurement > 1460 and < 2920
    Description

    Control inclusion:Age (in days) at measurement > 1460 and < 2920

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0009932
    UMLS CUI [1,2]
    C1512693
    UMLS CUI [1,3]
    C5239163
    All BMI Measurements are ≥ 5th percentile and ≤ 85th percentile
    Description

    All BMI Measurements are ≥ 5th percentile and ≤ 85th percentile

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1305855
    UMLS CUI [1,2]
    C0242485
    UMLS CUI [1,3]
    C2911064
    The determination of the BMI-for-age percentile is according to CDC criteria or WHO criteria.
    Description

    The determination of the BMI-for-age percentile is according to CDC criteria or WHO criteria.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C5235575
    UMLS CUI [1,2]
    C0679228
    UMLS CUI [1,3]
    C0007670
    UMLS CUI [1,4]
    C0043237
    **Eosinophilic Esophagitis (EoE)**
    Description

    **Eosinophilic Esophagitis (EoE)**

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0341106
    Individuals need to meet at least one criterion from the list below in order to be included in the original study. Background information is required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center
    Description

    Individuals need to meet at least one criterion from the list below in order to be included in the original study. Background information is required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0243161
    UMLS CUI [2,1]
    C2598106
    UMLS CUI [2,2]
    C0262926
    UMLS CUI [2,3]
    C0807321
    UMLS CUI [2,4]
    C0020017
    UMLS CUI [3,1]
    C0497101
    UMLS CUI [3,2]
    C0009378
    UMLS CUI [3,3]
    C0600406
    UMLS CUI [3,4]
    C0392707
    UMLS CUI [3,5]
    C0430022
    UMLS CUI [3,6]
    C0020017
    Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology
    Description

    Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0030705
    UMLS CUI [1,2]
    C0020017
    UMLS CUI [1,3]
    C0002112
    UMLS CUI [1,4]
    C0017163
    Participants will be no younger than one year of age and no older than 65 years of age
    Description

    Participants will be no younger than one year of age and no older than 65 years of age

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C4554048
    UMLS CUI [1,2]
    C0001779
    Family members of patients diagnosed with an eosinophilic disorder
    Description

    Family members of patients diagnosed with an eosinophilic disorder

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0086282
    UMLS CUI [1,2]
    C0030705
    UMLS CUI [1,3]
    C0011900
    UMLS CUI [1,4]
    C1306759
    Healthy human volunteers, including employees recruited from the laboratories at Cincinnati children research foundation and the Cincinnati Genomic Control Cohort.
    Description

    Healthy human volunteers, including employees recruited from the laboratories at Cincinnati children research foundation and the Cincinnati Genomic Control Cohort.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1708335
    UMLS CUI [1,2]
    C0599987
    UMLS CUI [1,3]
    C2949735
    UMLS CUI [1,4]
    C0022879
    UMLS CUI [1,5]
    C0020017
    UMLS CUI [1,6]
    C0016617
    UMLS CUI [1,7]
    C0009932
    **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)**
    Description

    **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)**

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C3847505
    Consistent with the hypothesis described above, this two studies will broadly target CCHMC patients (and their families) with suspected de novo genetic mutations predisposing them to physical developmental abnormalities, mental retardation, seizures, pulmonary dysfunction, and idiopathic inflammatory diseases, and the other disorders evaluated that can be identified with exome sequencing.
    Description

    Consistent with the hypothesis described above, this two studies will broadly target CCHMC patients (and their families) with suspected de novo genetic mutations predisposing them to physical developmental abnormalities, mental retardation, seizures, pulmonary dysfunction, and idiopathic inflammatory diseases, and the other disorders evaluated that can be identified with exome sequencing.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1512571
    UMLS CUI [1,2]
    C0947630
    UMLS CUI [1,3]
    C5708048
    UMLS CUI [1,4]
    C2985439
    UMLS CUI [1,5]
    C0000768
    UMLS CUI [1,6]
    C0205485
    UMLS CUI [1,7]
    C0025362
    UMLS CUI [1,8]
    C0036572
    UMLS CUI [1,9]
    C1709770
    UMLS CUI [1,10]
    C1290884
    UMLS CUI [1,11]
    C0332240
    UMLS CUI [1,12]
    C0205396
    UMLS CUI [1,13]
    C3640077
    **CLRR-Cincinnati Lupus Registry and Repository**
    Description

    **CLRR-Cincinnati Lupus Registry and Repository**

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0409974
    UMLS CUI [1,2]
    C2985664
    UMLS CUI [1,3]
    C5708278
    The recruitment of subjects include Patients with lupus (affected) and non-affected family members enrolled through referrals from physicians and patients. To be enrolled as an affected, an individual is required to have a diagnosis that satisfies the 1982 American College of Rheumatology's criteria for the classification SLE as revised in 1997.
    Description

    The recruitment of subjects include Patients with lupus (affected) and non-affected family members enrolled through referrals from physicians and patients. To be enrolled as an affected, an individual is required to have a diagnosis that satisfies the 1982 American College of Rheumatology's criteria for the classification SLE as revised in 1997.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0376425
    UMLS CUI [1,2]
    C0409974
    UMLS CUI [1,3]
    C0030705
    UMLS CUI [1,4]
    C0086282
    UMLS CUI [1,5]
    C2986417
    UMLS CUI [1,6]
    C0583834
    UMLS CUI [2,1]
    C1516879
    UMLS CUI [2,2]
    C0522476
    UMLS CUI [2,3]
    C4055473
    **Juvenile Idiopathic Arthritis (JIA)**
    Description

    **Juvenile Idiopathic Arthritis (JIA)**

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1444845
    The overriding criteria for selection of all patients is the diagnosis of JIA according to the ACR criteria.
    Description

    The overriding criteria for selection of all patients is the diagnosis of JIA according to the ACR criteria.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0242801
    UMLS CUI [1,2]
    C0011900
    UMLS CUI [1,3]
    C3495559
    UMLS CUI [1,4]
    C3273747
    Inclusion criteria for New Onset disease: No prior disease-remitting treatment
    Description

    Inclusion criteria for New Onset disease: No prior disease-remitting treatment

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0746890
    UMLS CUI [1,3]
    C0012634
    UMLS CUI [1,4]
    C4489231
    Subject and/or parent or legal guardian must be willing to sign consent/assent forms
    Description

    Subject and/or parent or legal guardian must be willing to sign consent/assent forms

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0021430
    UMLS CUI [1,2]
    C0030701
    UMLS CUI [1,3]
    C0030551
    UMLS CUI [1,4]
    C1274041
    Disease onset for less than 10 months (JIA) (If duration exceeds 10 months and the patient is about to start MTX therapy, enroll and contact the coordinating center for an exemption.)
    Description

    Disease onset for less than 10 months (JIA) (If duration exceeds 10 months and the patient is about to start MTX therapy, enroll and contact the coordinating center for an exemption.)

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0277793
    UMLS CUI [1,2]
    C3495559
    UMLS CUI [2,1]
    C0449238
    UMLS CUI [2,2]
    C5446435
    UMLS CUI [2,3]
    C0439659
    UMLS CUI [2,4]
    C0025677
    UMLS CUI [2,5]
    C0013216
    UMLS CUI [2,6]
    C1516879
    UMLS CUI [2,7]
    C2825181
    Patient has an established or probable diagnosis of pauciarticular, polyarticular or systemic onset JIA as determined by ACR criteria.
    Description

    Patient has an established or probable diagnosis of pauciarticular, polyarticular or systemic onset JIA as determined by ACR criteria.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0332139
    UMLS CUI [1,2]
    C0332148
    UMLS CUI [1,3]
    C2931171
    UMLS CUI [1,4]
    C0311221
    UMLS CUI [1,5]
    C0087031
    UMLS CUI [1,6]
    C3273747
    Patient must have joints with active arthritis as defined by ACR or signs/symptoms of systemic JRA.
    Description

    Patient must have joints with active arthritis as defined by ACR or signs/symptoms of systemic JRA.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C4543862
    UMLS CUI [1,2]
    C1709632
    UMLS CUI [1,3]
    C0030705
    UMLS CUI [1,4]
    C3273747
    UMLS CUI [1,5]
    C0037088
    UMLS CUI [1,6]
    C0087031
    Exclusion criteria for New Onset disease:Prior treatment with a DMARD
    Description

    Elig.phs001011.v2.p1.27

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251
    UMLS CUI [1,2]
    C0746890
    UMLS CUI [1,3]
    C1514463
    UMLS CUI [1,4]
    C0242708
    Any uncontrolled, clinically significant pre-existing systemic disease, unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases.
    Description

    Any uncontrolled, clinically significant pre-existing systemic disease, unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0521987
    UMLS CUI [1,2]
    C2985739
    UMLS CUI [1,3]
    C0205318
    UMLS CUI [1,4]
    C0442893
    UMLS CUI [1,5]
    C0023895
    UMLS CUI [1,6]
    C0022658
    UMLS CUI [1,7]
    C0027765
    UMLS CUI [1,8]
    C0014130
    UMLS CUI [1,9]
    C0018799
    UMLS CUI [1,10]
    C0017178
    UMLS CUI [1,11]
    C0018939
    The patient has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
    Description

    The patient has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1444635
    UMLS CUI [1,2]
    C0740858
    UMLS CUI [1,3]
    C0455498
    UMLS CUI [1,4]
    C0021430
    UMLS CUI [1,5]
    C1299582
    UMLS CUI [1,6]
    C3858934
    UMLS CUI [1,7]
    C1710221
    UMLS CUI [1,8]
    C1442085
    Inclusion Criteria for Existing disease: Subject and/or parent or legal guardian must be willing to sign consent/assent forms
    Description

    Inclusion Criteria for Existing disease: Subject and/or parent or legal guardian must be willing to sign consent/assent forms

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0521987
    UMLS CUI [1,3]
    C0021430
    UMLS CUI [1,4]
    C0030551
    UMLS CUI [1,5]
    C0023226
    Exclusion Criteria for Existing disease:Any uncontrolled, clinically significant pre-existent and systemic disease, hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases. Past or current substance abuse or psychiatric history that would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
    Description

    Exclusion Criteria for Existing disease:Any uncontrolled, clinically significant pre-existent and systemic disease, hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases. Past or current substance abuse or psychiatric history that would interfere with the ability to give informed consent or comply with study requirements or physician instructions.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251
    UMLS CUI [1,2]
    C0521987
    UMLS CUI [1,3]
    C2985739
    UMLS CUI [1,4]
    C0205318
    UMLS CUI [1,5]
    C0442893
    UMLS CUI [1,6]
    C0023895
    UMLS CUI [1,7]
    C0022658
    UMLS CUI [1,8]
    C0027765
    UMLS CUI [1,9]
    C0014130
    UMLS CUI [1,10]
    C0018799
    UMLS CUI [1,11]
    C0017178
    UMLS CUI [1,12]
    C0018939
    UMLS CUI [2,1]
    C1444635
    UMLS CUI [2,2]
    C0740858
    UMLS CUI [2,3]
    C0455498
    UMLS CUI [2,4]
    C0021430
    UMLS CUI [2,5]
    C1299582
    UMLS CUI [2,6]
    C3858934
    UMLS CUI [2,7]
    C1710221
    UMLS CUI [2,8]
    C1442085
    **Better Outcomes for Children-Cytogenetics**
    Description

    **Better Outcomes for Children-Cytogenetics**

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C2963499
    UMLS CUI [1,2]
    C2986411
    UMLS CUI [1,3]
    C0200896
    A collection of pediatric samples with diagnoses of various developmental or genetic abnormalities (rare or common diseases) have been selected for high throughput SNP genotyping.
    Description

    A collection of pediatric samples with diagnoses of various developmental or genetic abnormalities (rare or common diseases) have been selected for high throughput SNP genotyping.

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0200345
    UMLS CUI [1,2]
    C1521725
    UMLS CUI [1,3]
    C0000768
    UMLS CUI [1,4]
    C001827
    UMLS CUI [1,5]
    C0205161
    UMLS CUI [1,6]
    C0242801
    UMLS CUI [1,7]
    C5392992
    UMLS CUI [1,8]
    C0752046
    Back to the top of the page

    Similar models

    Eligibility Criteria

    6 forms
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    **Extreme early onset obesity**
    Item
    **Extreme early onset obesity**
    boolean
    C4013980 (UMLS CUI [1,1])
    Using natural language processing we have developed and validated an NLP algorithm to detect cases and controls for extreme childhood obesity. Details of this algorithm can be found on the emerge network page (https://phekb.org), briefly:
    Item
    Using natural language processing we have developed and validated an NLP algorithm to detect cases and controls for extreme childhood obesity. Details of this algorithm can be found on the emerge network page (https://phekb.org), briefly:
    boolean
    C0027489 (UMLS CUI [1,1])
    C1527148 (UMLS CUI [1,2])
    C1519941 (UMLS CUI [1,3])
    C0683473 (UMLS CUI [1,4])
    C1511790 (UMLS CUI [1,5])
    C1706256 (UMLS CUI [1,6])
    C4553389 (UMLS CUI [1,7])
    C4013980 (UMLS CUI [1,8])
    Case inclusion:Height/Weight measurement is available for same day
    Item
    Case inclusion:Height/Weight measurement is available for same day
    boolean
    C0085973 (UMLS CUI [1,1])
    C1512693 (UMLS CUI [1,2])
    C0005910 (UMLS CUI [1,3])
    C0005890 (UMLS CUI [1,4])
    C1292424 (UMLS CUI [1,5])
    Age (in days at time of measurement): > 365 days and < 2190 days
    Item
    Age (in days at time of measurement): > 365 days and < 2190 days
    boolean
    C5239163 (UMLS CUI [1,1])
    2 or more BMI measurement ≥ 99th percentile
    Item
    2 or more BMI measurement ≥ 99th percentile
    boolean
    C1305855 (UMLS CUI [1,1])
    C0242485 (UMLS CUI [1,2])
    C4696025 (UMLS CUI [1,3])
    C0439547 (UMLS CUI [1,4])
    More than 50% of BMI Measurements > 76th percentile
    Item
    More than 50% of BMI Measurements > 76th percentile
    boolean
    C1305855 (UMLS CUI [1,1])
    C0242485 (UMLS CUI [1,2])
    C1532337 (UMLS CUI [1,3])
    C4321352 (UMLS CUI [1,4])
    Control inclusion:Age (in days) at measurement > 1460 and < 2920
    Item
    Control inclusion:Age (in days) at measurement > 1460 and < 2920
    boolean
    C0009932 (UMLS CUI [1,1])
    C1512693 (UMLS CUI [1,2])
    C5239163 (UMLS CUI [1,3])
    All BMI Measurements are ≥ 5th percentile and ≤ 85th percentile
    Item
    All BMI Measurements are ≥ 5th percentile and ≤ 85th percentile
    boolean
    C1305855 (UMLS CUI [1,1])
    C0242485 (UMLS CUI [1,2])
    C2911064 (UMLS CUI [1,3])
    The determination of the BMI-for-age percentile is according to CDC criteria or WHO criteria.
    Item
    The determination of the BMI-for-age percentile is according to CDC criteria or WHO criteria.
    boolean
    C5235575 (UMLS CUI [1,1])
    C0679228 (UMLS CUI [1,2])
    C0007670 (UMLS CUI [1,3])
    C0043237 (UMLS CUI [1,4])
    **Eosinophilic Esophagitis (EoE)**
    Item
    **Eosinophilic Esophagitis (EoE)**
    boolean
    C0341106 (UMLS CUI [1,1])
    Individuals need to meet at least one criterion from the list below in order to be included in the original study. Background information is required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center
    Item
    Individuals need to meet at least one criterion from the list below in order to be included in the original study. Background information is required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center
    boolean
    C1512693 (UMLS CUI [1,1])
    C0243161 (UMLS CUI [1,2])
    C2598106 (UMLS CUI [2,1])
    C0262926 (UMLS CUI [2,2])
    C0807321 (UMLS CUI [2,3])
    C0020017 (UMLS CUI [2,4])
    C0497101 (UMLS CUI [3,1])
    C0009378 (UMLS CUI [3,2])
    C0600406 (UMLS CUI [3,3])
    C0392707 (UMLS CUI [3,4])
    C0430022 (UMLS CUI [3,5])
    C0020017 (UMLS CUI [3,6])
    Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology
    Item
    Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology
    boolean
    C0030705 (UMLS CUI [1,1])
    C0020017 (UMLS CUI [1,2])
    C0002112 (UMLS CUI [1,3])
    C0017163 (UMLS CUI [1,4])
    Participants will be no younger than one year of age and no older than 65 years of age
    Item
    Participants will be no younger than one year of age and no older than 65 years of age
    boolean
    C4554048 (UMLS CUI [1,1])
    C0001779 (UMLS CUI [1,2])
    Family members of patients diagnosed with an eosinophilic disorder
    Item
    Family members of patients diagnosed with an eosinophilic disorder
    boolean
    C0086282 (UMLS CUI [1,1])
    C0030705 (UMLS CUI [1,2])
    C0011900 (UMLS CUI [1,3])
    C1306759 (UMLS CUI [1,4])
    Healthy human volunteers, including employees recruited from the laboratories at Cincinnati children research foundation and the Cincinnati Genomic Control Cohort.
    Item
    Healthy human volunteers, including employees recruited from the laboratories at Cincinnati children research foundation and the Cincinnati Genomic Control Cohort.
    boolean
    C1708335 (UMLS CUI [1,1])
    C0599987 (UMLS CUI [1,2])
    C2949735 (UMLS CUI [1,3])
    C0022879 (UMLS CUI [1,4])
    C0020017 (UMLS CUI [1,5])
    C0016617 (UMLS CUI [1,6])
    C0009932 (UMLS CUI [1,7])
    **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)**
    Item
    **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)**
    boolean
    C2347026 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    Consistent with the hypothesis described above, this two studies will broadly target CCHMC patients (and their families) with suspected de novo genetic mutations predisposing them to physical developmental abnormalities, mental retardation, seizures, pulmonary dysfunction, and idiopathic inflammatory diseases, and the other disorders evaluated that can be identified with exome sequencing.
    Item
    Consistent with the hypothesis described above, this two studies will broadly target CCHMC patients (and their families) with suspected de novo genetic mutations predisposing them to physical developmental abnormalities, mental retardation, seizures, pulmonary dysfunction, and idiopathic inflammatory diseases, and the other disorders evaluated that can be identified with exome sequencing.
    boolean
    C1512571 (UMLS CUI [1,1])
    C0947630 (UMLS CUI [1,2])
    C5708048 (UMLS CUI [1,3])
    C2985439 (UMLS CUI [1,4])
    C0000768 (UMLS CUI [1,5])
    C0205485 (UMLS CUI [1,6])
    C0025362 (UMLS CUI [1,7])
    C0036572 (UMLS CUI [1,8])
    C1709770 (UMLS CUI [1,9])
    C1290884 (UMLS CUI [1,10])
    C0332240 (UMLS CUI [1,11])
    C0205396 (UMLS CUI [1,12])
    C3640077 (UMLS CUI [1,13])
    **CLRR-Cincinnati Lupus Registry and Repository**
    Item
    **CLRR-Cincinnati Lupus Registry and Repository**
    boolean
    C0409974 (UMLS CUI [1,1])
    C2985664 (UMLS CUI [1,2])
    C5708278 (UMLS CUI [1,3])
    The recruitment of subjects include Patients with lupus (affected) and non-affected family members enrolled through referrals from physicians and patients. To be enrolled as an affected, an individual is required to have a diagnosis that satisfies the 1982 American College of Rheumatology's criteria for the classification SLE as revised in 1997.
    Item
    The recruitment of subjects include Patients with lupus (affected) and non-affected family members enrolled through referrals from physicians and patients. To be enrolled as an affected, an individual is required to have a diagnosis that satisfies the 1982 American College of Rheumatology's criteria for the classification SLE as revised in 1997.
    boolean
    C0376425 (UMLS CUI [1,1])
    C0409974 (UMLS CUI [1,2])
    C0030705 (UMLS CUI [1,3])
    C0086282 (UMLS CUI [1,4])
    C2986417 (UMLS CUI [1,5])
    C0583834 (UMLS CUI [1,6])
    C1516879 (UMLS CUI [2,1])
    C0522476 (UMLS CUI [2,2])
    C4055473 (UMLS CUI [2,3])
    **Juvenile Idiopathic Arthritis (JIA)**
    Item
    **Juvenile Idiopathic Arthritis (JIA)**
    boolean
    C1444845 (UMLS CUI [1,1])
    The overriding criteria for selection of all patients is the diagnosis of JIA according to the ACR criteria.
    Item
    The overriding criteria for selection of all patients is the diagnosis of JIA according to the ACR criteria.
    boolean
    C0242801 (UMLS CUI [1,1])
    C0011900 (UMLS CUI [1,2])
    C3495559 (UMLS CUI [1,3])
    C3273747 (UMLS CUI [1,4])
    Inclusion criteria for New Onset disease: No prior disease-remitting treatment
    Item
    Inclusion criteria for New Onset disease: No prior disease-remitting treatment
    boolean
    C1512693 (UMLS CUI [1,1])
    C0746890 (UMLS CUI [1,2])
    C0012634 (UMLS CUI [1,3])
    C4489231 (UMLS CUI [1,4])
    Subject and/or parent or legal guardian must be willing to sign consent/assent forms
    Item
    Subject and/or parent or legal guardian must be willing to sign consent/assent forms
    boolean
    C0021430 (UMLS CUI [1,1])
    C0030701 (UMLS CUI [1,2])
    C0030551 (UMLS CUI [1,3])
    C1274041 (UMLS CUI [1,4])
    Disease onset for less than 10 months (JIA) (If duration exceeds 10 months and the patient is about to start MTX therapy, enroll and contact the coordinating center for an exemption.)
    Item
    Disease onset for less than 10 months (JIA) (If duration exceeds 10 months and the patient is about to start MTX therapy, enroll and contact the coordinating center for an exemption.)
    boolean
    C0277793 (UMLS CUI [1,1])
    C3495559 (UMLS CUI [1,2])
    C0449238 (UMLS CUI [2,1])
    C5446435 (UMLS CUI [2,2])
    C0439659 (UMLS CUI [2,3])
    C0025677 (UMLS CUI [2,4])
    C0013216 (UMLS CUI [2,5])
    C1516879 (UMLS CUI [2,6])
    C2825181 (UMLS CUI [2,7])
    Patient has an established or probable diagnosis of pauciarticular, polyarticular or systemic onset JIA as determined by ACR criteria.
    Item
    Patient has an established or probable diagnosis of pauciarticular, polyarticular or systemic onset JIA as determined by ACR criteria.
    boolean
    C0332139 (UMLS CUI [1,1])
    C0332148 (UMLS CUI [1,2])
    C2931171 (UMLS CUI [1,3])
    C0311221 (UMLS CUI [1,4])
    C0087031 (UMLS CUI [1,5])
    C3273747 (UMLS CUI [1,6])
    Patient must have joints with active arthritis as defined by ACR or signs/symptoms of systemic JRA.
    Item
    Patient must have joints with active arthritis as defined by ACR or signs/symptoms of systemic JRA.
    boolean
    C4543862 (UMLS CUI [1,1])
    C1709632 (UMLS CUI [1,2])
    C0030705 (UMLS CUI [1,3])
    C3273747 (UMLS CUI [1,4])
    C0037088 (UMLS CUI [1,5])
    C0087031 (UMLS CUI [1,6])
    Elig.phs001011.v2.p1.27
    Item
    Exclusion criteria for New Onset disease:Prior treatment with a DMARD
    boolean
    C0680251 (UMLS CUI [1,1])
    C0746890 (UMLS CUI [1,2])
    C1514463 (UMLS CUI [1,3])
    C0242708 (UMLS CUI [1,4])
    Any uncontrolled, clinically significant pre-existing systemic disease, unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases.
    Item
    Any uncontrolled, clinically significant pre-existing systemic disease, unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases.
    boolean
    C0521987 (UMLS CUI [1,1])
    C2985739 (UMLS CUI [1,2])
    C0205318 (UMLS CUI [1,3])
    C0442893 (UMLS CUI [1,4])
    C0023895 (UMLS CUI [1,5])
    C0022658 (UMLS CUI [1,6])
    C0027765 (UMLS CUI [1,7])
    C0014130 (UMLS CUI [1,8])
    C0018799 (UMLS CUI [1,9])
    C0017178 (UMLS CUI [1,10])
    C0018939 (UMLS CUI [1,11])
    The patient has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
    Item
    The patient has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
    boolean
    C1444635 (UMLS CUI [1,1])
    C0740858 (UMLS CUI [1,2])
    C0455498 (UMLS CUI [1,3])
    C0021430 (UMLS CUI [1,4])
    C1299582 (UMLS CUI [1,5])
    C3858934 (UMLS CUI [1,6])
    C1710221 (UMLS CUI [1,7])
    C1442085 (UMLS CUI [1,8])
    Inclusion Criteria for Existing disease: Subject and/or parent or legal guardian must be willing to sign consent/assent forms
    Item
    Inclusion Criteria for Existing disease: Subject and/or parent or legal guardian must be willing to sign consent/assent forms
    boolean
    C1512693 (UMLS CUI [1,1])
    C0521987 (UMLS CUI [1,2])
    C0021430 (UMLS CUI [1,3])
    C0030551 (UMLS CUI [1,4])
    C0023226 (UMLS CUI [1,5])
    Exclusion Criteria for Existing disease:Any uncontrolled, clinically significant pre-existent and systemic disease, hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases. Past or current substance abuse or psychiatric history that would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
    Item
    Exclusion Criteria for Existing disease:Any uncontrolled, clinically significant pre-existent and systemic disease, hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases. Past or current substance abuse or psychiatric history that would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
    boolean
    C0680251 (UMLS CUI [1,1])
    C0521987 (UMLS CUI [1,2])
    C2985739 (UMLS CUI [1,3])
    C0205318 (UMLS CUI [1,4])
    C0442893 (UMLS CUI [1,5])
    C0023895 (UMLS CUI [1,6])
    C0022658 (UMLS CUI [1,7])
    C0027765 (UMLS CUI [1,8])
    C0014130 (UMLS CUI [1,9])
    C0018799 (UMLS CUI [1,10])
    C0017178 (UMLS CUI [1,11])
    C0018939 (UMLS CUI [1,12])
    C1444635 (UMLS CUI [2,1])
    C0740858 (UMLS CUI [2,2])
    C0455498 (UMLS CUI [2,3])
    C0021430 (UMLS CUI [2,4])
    C1299582 (UMLS CUI [2,5])
    C3858934 (UMLS CUI [2,6])
    C1710221 (UMLS CUI [2,7])
    C1442085 (UMLS CUI [2,8])
    **Better Outcomes for Children-Cytogenetics**
    Item
    **Better Outcomes for Children-Cytogenetics**
    boolean
    C2963499 (UMLS CUI [1,1])
    C2986411 (UMLS CUI [1,2])
    C0200896 (UMLS CUI [1,3])
    A collection of pediatric samples with diagnoses of various developmental or genetic abnormalities (rare or common diseases) have been selected for high throughput SNP genotyping.
    Item
    A collection of pediatric samples with diagnoses of various developmental or genetic abnormalities (rare or common diseases) have been selected for high throughput SNP genotyping.
    boolean
    C0200345 (UMLS CUI [1,1])
    C1521725 (UMLS CUI [1,2])
    C0000768 (UMLS CUI [1,3])
    C001827 (UMLS CUI [1,4])
    C0205161 (UMLS CUI [1,5])
    C0242801 (UMLS CUI [1,6])
    C5392992 (UMLS CUI [1,7])
    C0752046 (UMLS CUI [1,8])
    Back to the top of the page 

    Help

    Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

    Watch Tutorial