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ID
45818
Description
Principal Investigator: Joseph Vockley, PhD, Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA MeSH: Preterm Birth,Paternal Age,Maternal Age https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001055 Germline mutations are the source of evolution and contribute substantially to many health-related processes. In this study, we use whole genome deep sequencing data from parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring. We studied correlation between parental ages with de novo mutation rates. This study is published in Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE. New observations on maternal age effect on germline de novo mutations. Nat Commun. 2016 Jan 19;7:10486 (PMID: 26781218. Also, we studied differences in molecular signatures in paternal versus maternal origin of de novo mutations. This study is published in Jakob M. Goldmann, Wendy S.W. Wong, Michele Pinelli, Terry Farrah, Dale Bodian, Anna B. Stittrich, Gustavo Glusman, Lisenka E.L.M. Vissers, Alexander Hoischen, Jared C. Roach, Joseph G. Vockley, Joris A. Veltman, Benjamin D. Solomon, Christian Gilissen, John E. Niederhuber. Parent-of-origin specific signatures of de novo mutations. Nat Genet. 2016 Aug;48(8):935-9, PMID: 27322544.
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Versions (1)
- 29/06/2023 29/06/2023 - Simon Heim
Détendeur de droits
Joseph Vockley, PhD, Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA
Téléchargé le
29 juin 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001055 Whole Genome Study for De Novo Mutation Rates
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent group information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, sex of subjects, and twin IDs for monozygotic twins.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample source and sample use.
- This subject phenotype table includes age of mother and father at proband's conception.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, and sequencing center.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent group information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, sex of subjects, and twin IDs for monozygotic twins.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample source and sample use.
- This subject phenotype table includes age of mother and father at proband's conception.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, and sequencing center.
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
*Inclusion and Exclusion Criteria for Test Group*
Item
*Inclusion and Exclusion Criteria for Test Group*
boolean
C0680251 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,2])
Inclusion Criteria for Mothers
Item
Inclusion Criteria for Mothers
boolean
C0680251 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C0026591 (UMLS CUI [1,2])
Other than being admitted to the hospital for pre-term birth, the mother is in good general health
Item
Other than being admitted to the hospital for pre-term birth, the mother is in good general health
boolean
C0184666 (UMLS CUI [1,1])
C0151526 (UMLS CUI [1,2])
C0026591 (UMLS CUI [2,1])
C1277245 (UMLS CUI [2,2])
C0151526 (UMLS CUI [1,2])
C0026591 (UMLS CUI [2,1])
C1277245 (UMLS CUI [2,2])
Pre-term birth includes pregnancies that end between 23 and 36 weeks
Item
Pre-term birth includes pregnancies that end between 23 and 36 weeks
boolean
C0151526 (UMLS CUI [1,1])
Age: ≥ 18 years
Item
Age: ≥ 18 years
boolean
C0001779 (UMLS CUI [1,1])
The study is not race-restricted
Item
The study is not race-restricted
boolean
C3858706 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,2])
Exclusion Criteria for Mothers
Item
Exclusion Criteria for Mothers
boolean
C0680251 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C0026591 (UMLS CUI [1,2])
Trauma responsible for induction of pre-term labor
Item
Trauma responsible for induction of pre-term labor
boolean
C0151526 (UMLS CUI [1,1])
C0678226 (UMLS CUI [1,2])
C3714660 (UMLS CUI [1,3])
C0678226 (UMLS CUI [1,2])
C3714660 (UMLS CUI [1,3])
Transfusion- in the previous six months
Item
Transfusion- in the previous six months
boolean
C1879316 (UMLS CUI [1,1])
C3828652 (UMLS CUI [1,2])
C3828652 (UMLS CUI [1,2])
Thrombophilia
Item
Thrombophilia
boolean
C0398623 (UMLS CUI [1,1])
Atypical cervix
Item
Atypical cervix
boolean
C0205182 (UMLS CUI [1,1])
C0007874 (UMLS CUI [1,2])
C0007874 (UMLS CUI [1,2])
Previous surgery on the cervix
Item
Previous surgery on the cervix
boolean
C0262926 (UMLS CUI [1,1])
C0543467 (UMLS CUI [1,2])
C0007874 (UMLS CUI [1,3])
C0543467 (UMLS CUI [1,2])
C0007874 (UMLS CUI [1,3])
Exposure to diethylstilbestrol (DES)
Item
Exposure to diethylstilbestrol (DES)
boolean
C0332157 (UMLS CUI [1,1])
C0012203 (UMLS CUI [1,2])
C0012203 (UMLS CUI [1,2])
History of alcohol abuse during pregnancy
Item
History of alcohol abuse during pregnancy
boolean
C2215686 (UMLS CUI [1,1])
History of drug abuse during pregnancy
Item
History of drug abuse during pregnancy
boolean
C5575054 (UMLS CUI [1,1])
Weight extremes (anorexia, morbid obesity) Body Mass Index (BMI) less than 15 or greater than 35
Item
Weight extremes (anorexia, morbid obesity) Body Mass Index (BMI) less than 15 or greater than 35
boolean
C4025357 (UMLS CUI [1,1])
Known exposure to hazardous chemicals (for example: dioxins)
Item
Known exposure to hazardous chemicals (for example: dioxins)
boolean
C0332157 (UMLS CUI [1,1])
C0018624 (UMLS CUI [1,2])
C0018624 (UMLS CUI [1,2])
Known chromosomal disorders or genetic disease
Item
Known chromosomal disorders or genetic disease
boolean
C0008626 (UMLS CUI [1,1])
C0205309 (UMLS CUI [1,2])
C0205309 (UMLS CUI [1,2])
Cancer
Item
Cancer
boolean
C0006826 (UMLS CUI [1,1])
Inclusion Criteria for Fathers
Item
Inclusion Criteria for Fathers
boolean
C1512693 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
C0015671 (UMLS CUI [1,2])
Good general health
Item
Good general health
boolean
C1277245 (UMLS CUI [1,1])
Age: ≥ 18 years
Item
Age: ≥ 18 years
boolean
C0001779 (UMLS CUI [1,1])
The study is not race-restricted
Item
The study is not race-restricted
boolean
C3858706 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,2])
Exclusion Criteria for Fathers
Item
Exclusion Criteria for Fathers
boolean
C0680251 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
C0015671 (UMLS CUI [1,2])
Non-paternity (if discovered through genotyping, family will be silently dropped from the study as described in the informed consent)
Item
Non-paternity (if discovered through genotyping, family will be silently dropped from the study as described in the informed consent)
boolean
C1518422 (UMLS CUI [1,1])
C0337494 (UMLS CUI [1,2])
C0337494 (UMLS CUI [1,2])
Alcohol abuse 3 months prior to date of conception
Item
Alcohol abuse 3 months prior to date of conception
boolean
C0085762 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
Drug abuse 3 months prior to date of conception
Item
Drug abuse 3 months prior to date of conception
boolean
C0013146 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
Exposure to hazardous chemicals 3 months prior to date of conception
Item
Exposure to hazardous chemicals 3 months prior to date of conception
boolean
C0332157 (UMLS CUI [1,1])
C1317261 (UMLS CUI [1,2])
C0018624 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,4])
C1317261 (UMLS CUI [1,2])
C0018624 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,4])
Known chromosomal abnormalities or genetic disease
Item
Known chromosomal abnormalities or genetic disease
boolean
C0008625 (UMLS CUI [1,1])
C0019247 (UMLS CUI [1,2])
C0019247 (UMLS CUI [1,2])
Cancer
Item
Cancer
boolean
C0006826 (UMLS CUI [1,1])
Inclusion Criteria for Neonates
Item
Inclusion Criteria for Neonates
boolean
C1512693 (UMLS CUI [1,1])
C0021289 (UMLS CUI [1,2])
C0021289 (UMLS CUI [1,2])
Babies who are born between 23 and 36 weeks gestation
Item
Babies who are born between 23 and 36 weeks gestation
boolean
C0021289 (UMLS CUI [1,1])
C0151526 (UMLS CUI [1,2])
C0151526 (UMLS CUI [1,2])
Exclusion Criteria for Neonates
Item
Exclusion Criteria for Neonates
boolean
C0680251 (UMLS CUI [1,1])
C0021289 (UMLS CUI [1,2])
C0021289 (UMLS CUI [1,2])
Transfusion
Item
Transfusion
boolean
C0005841 (UMLS CUI [1,1])
Known chromosomal or genetic defect
Item
Known chromosomal or genetic defect
boolean
C0948447 (UMLS CUI [1,1])
C0019247 (UMLS CUI [1,2])
C0019247 (UMLS CUI [1,2])
Gross anatomic defect
Item
Gross anatomic defect
boolean
C4062802 (UMLS CUI [1,1])
Inclusion Criteria for Multigenerational Family Members
Item
Inclusion Criteria for Multigenerational Family Members
boolean
C1512693 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0086282 (UMLS CUI [1,2])
Good general health
Item
Good general health
boolean
C1277245 (UMLS CUI [1,1])
Age: ≥ 18 years
Item
Age: ≥ 18 years
boolean
C0001779 (UMLS CUI [1,1])
The study is not race-restricted
Item
The study is not race-restricted
boolean
C3858706 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,2])
Positive family history of preterm birth
Item
Positive family history of preterm birth
boolean
C0241889 (UMLS CUI [1,1])
C0151526 (UMLS CUI [1,2])
C0151526 (UMLS CUI [1,2])
Exclusion Criteria for Multigenerational Family Members
Item
Exclusion Criteria for Multigenerational Family Members
boolean
C0680251 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0086282 (UMLS CUI [1,2])
Non-paternity (if discovered through genotyping, family will be silently dropped from the study as described in the informed consent)
Item
Non-paternity (if discovered through genotyping, family will be silently dropped from the study as described in the informed consent)
boolean
C1518422 (UMLS CUI [1,1])
C0337494 (UMLS CUI [1,2])
C0337494 (UMLS CUI [1,2])
*Inclusion and Exclusion Criteria for Control Group*
Item
*Inclusion and Exclusion Criteria for Control Group*
boolean
C0680251 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,2])
Inclusion criteria for mothers
Item
Inclusion criteria for mothers
boolean
C1512693 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C0026591 (UMLS CUI [1,2])
Mother is in good general health
Item
Mother is in good general health
boolean
C0026591 (UMLS CUI [1,1])
C1277245 (UMLS CUI [1,2])
C1277245 (UMLS CUI [1,2])
Delivery occurs after 36 weeks gestational age
Item
Delivery occurs after 36 weeks gestational age
boolean
C3650657 (UMLS CUI [1,1])
Age: ≥ 18 years
Item
Age: ≥ 18 years
boolean
C0001779 (UMLS CUI [1,1])
The study is not race-restricted
Item
The study is not race-restricted
boolean
C3858706 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,2])
Exclusion criteria for mothers
Item
Exclusion criteria for mothers
boolean
C0680251 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C0026591 (UMLS CUI [1,2])
Transfusion- in the previous six months
Item
Transfusion- in the previous six months
boolean
C0005841 (UMLS CUI [1,1])
C3828652 (UMLS CUI [1,2])
C3828652 (UMLS CUI [1,2])
Thrombophilia
Item
Thrombophilia
boolean
C0398623 (UMLS CUI [1,1])
Atypical cervix
Item
Atypical cervix
boolean
C0205182 (UMLS CUI [1,1])
C0007874 (UMLS CUI [1,2])
C0007874 (UMLS CUI [1,2])
Previous surgery on the cervix
Item
Previous surgery on the cervix
boolean
C0262926 (UMLS CUI [1,1])
C0543467 (UMLS CUI [1,2])
C0007874 (UMLS CUI [1,3])
C0543467 (UMLS CUI [1,2])
C0007874 (UMLS CUI [1,3])
Exposure to diethylstilbestrol (DES)
Item
Exposure to diethylstilbestrol (DES)
boolean
C0332157 (UMLS CUI [1,1])
C0012203 (UMLS CUI [1,2])
C0012203 (UMLS CUI [1,2])
History of alcohol abuse during pregnancy
Item
History of alcohol abuse during pregnancy
boolean
C2215686 (UMLS CUI [1,1])
History of drug abuse during pregnancy
Item
History of drug abuse during pregnancy
boolean
C5575054 (UMLS CUI [1,1])
Weight extremes (anorexia, morbid obesity) Body Mass Index less than 15 or greater than 35
Item
Weight extremes (anorexia, morbid obesity) Body Mass Index less than 15 or greater than 35
boolean
C4025357 (UMLS CUI [1,1])
Known exposure to hazardous chemicals (for example: dioxins)
Item
Known exposure to hazardous chemicals (for example: dioxins)
boolean
C0332157 (UMLS CUI [1,1])
C0018624 (UMLS CUI [1,2])
C0018624 (UMLS CUI [1,2])
Known chromosomal disorders or genetic disease
Item
Known chromosomal disorders or genetic disease
boolean
C0019247 (UMLS CUI [1,1])
C0948447 (UMLS CUI [1,2])
C0948447 (UMLS CUI [1,2])
Cancer
Item
Cancer
boolean
C0006826 (UMLS CUI [1,1])
Inclusion criteria for fathers
Item
Inclusion criteria for fathers
boolean
C1512693 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
C0015671 (UMLS CUI [1,2])
Good general health
Item
Good general health
boolean
C1277245 (UMLS CUI [1,1])
Age: ≥ 18 years
Item
Age: ≥ 18 years
boolean
C0001779 (UMLS CUI [1,1])
The study is not race-restricted
Item
The study is not race-restricted
boolean
C3858706 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,2])
Exclusion criteria for fathers
Item
Exclusion criteria for fathers
boolean
C0680251 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
C0015671 (UMLS CUI [1,2])
Non-paternity (if discovered through genotyping, family will be silently dropped from the study as described in the informed consent)
Item
Non-paternity (if discovered through genotyping, family will be silently dropped from the study as described in the informed consent)
boolean
C1518422 (UMLS CUI [1,1])
C0337494 (UMLS CUI [1,2])
C0337494 (UMLS CUI [1,2])
Alcohol abuse 3 months prior to date of conception
Item
Alcohol abuse 3 months prior to date of conception
boolean
C0085762 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
Drug abuse 3 months prior to date of conception
Item
Drug abuse 3 months prior to date of conception
boolean
C0013146 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,2])
C1317261 (UMLS CUI [1,3])
Exposure to hazardous chemicals 3 months prior to date of conception
Item
Exposure to hazardous chemicals 3 months prior to date of conception
boolean
C0332157 (UMLS CUI [1,1])
C0018624 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C1317261 (UMLS CUI [1,4])
C0018624 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C1317261 (UMLS CUI [1,4])
Known chromosomal abnormalities or genetic disease
Item
Known chromosomal abnormalities or genetic disease
boolean
C0019247 (UMLS CUI [1,1])
C0948447 (UMLS CUI [1,2])
C0948447 (UMLS CUI [1,2])
Cancer
Item
Cancer
boolean
C0006826 (UMLS CUI [1,1])
Inclusion Criteria for Neonates
Item
Inclusion Criteria for Neonates
boolean
C1512693 (UMLS CUI [1,1])
C0021289 (UMLS CUI [1,2])
C0021289 (UMLS CUI [1,2])
Babies who are born after 36 weeks gestation
Item
Babies who are born after 36 weeks gestation
boolean
C3650657 (UMLS CUI [1,1])
Exclusion Criteria for Neonates
Item
Exclusion Criteria for Neonates
boolean
C0680251 (UMLS CUI [1,1])
C0021289 (UMLS CUI [1,2])
C0021289 (UMLS CUI [1,2])
Transfusion
Item
Transfusion
boolean
C0005841 (UMLS CUI [1,1])
Known chromosomal or genetic defect
Item
Known chromosomal or genetic defect
boolean
C0948447 (UMLS CUI [1,1])
C0019247 (UMLS CUI [1,2])
C0019247 (UMLS CUI [1,2])
Gross anatomic defect
Item
Gross anatomic defect
boolean
C4062802 (UMLS CUI [1,1])
*Vulnerable and Excluded Populations*
Item
*Vulnerable and Excluded Populations*
boolean
C0949366 (UMLS CUI [1,1])
C2828389 (UMLS CUI [1,2])
C1257890 (UMLS CUI [1,3])
C2828389 (UMLS CUI [1,2])
C1257890 (UMLS CUI [1,3])
Vulnerable
Item
Vulnerable
boolean
C0949366 (UMLS CUI [1,1])
Neonates are considered to be a vulnerable population as they do not have the cognitive ability to understand the implications of participating in this study and do not have the ability to communicate their willingness to participate in the study. Thus informed consent is obtained from the mother.
Item
Neonates are considered to be a vulnerable population as they do not have the cognitive ability to understand the implications of participating in this study and do not have the ability to communicate their willingness to participate in the study. Thus informed consent is obtained from the mother.
boolean
C0021289 (UMLS CUI [1,1])
C0949366 (UMLS CUI [1,2])
C0392334 (UMLS CUI [1,3])
C0679823 (UMLS CUI [1,4])
C0566000 (UMLS CUI [1,5])
C0514044 (UMLS CUI [1,6])
C0026591 (UMLS CUI [1,7])
C0949366 (UMLS CUI [1,2])
C0392334 (UMLS CUI [1,3])
C0679823 (UMLS CUI [1,4])
C0566000 (UMLS CUI [1,5])
C0514044 (UMLS CUI [1,6])
C0026591 (UMLS CUI [1,7])
Excluded
Item
Excluded
boolean
C0680251 (UMLS CUI [1,1])
HIV infected populations are excluded because of the use of ARV drugs which could potentially be identified as the cause of pre-term birth.
Item
HIV infected populations are excluded because of the use of ARV drugs which could potentially be identified as the cause of pre-term birth.
boolean
C0019693 (UMLS CUI [1,1])
C2828389 (UMLS CUI [1,2])
C1963724 (UMLS CUI [1,3])
C3245505 (UMLS CUI [1,4])
C0151526 (UMLS CUI [1,5])
C2828389 (UMLS CUI [1,2])
C1963724 (UMLS CUI [1,3])
C3245505 (UMLS CUI [1,4])
C0151526 (UMLS CUI [1,5])
Populations exposed to hazardous chemicals to include environmental exposure, alcohol, illegal drugs, and OTC medications that represent a risk to mother or fetus which could potentially be identified as the cause of pre-term birth.
Item
Populations exposed to hazardous chemicals to include environmental exposure, alcohol, illegal drugs, and OTC medications that represent a risk to mother or fetus which could potentially be identified as the cause of pre-term birth.
boolean
C1257890 (UMLS CUI [1,1])
C0332157 (UMLS CUI [1,2])
C0018624 (UMLS CUI [1,3])
C0014412 (UMLS CUI [1,4])
C0001962 (UMLS CUI [1,5])
C0086190 (UMLS CUI [1,6])
C2054160 (UMLS CUI [1,7])
C0035647 (UMLS CUI [1,8])
C0026591 (UMLS CUI [1,9])
C0015965 (UMLS CUI [1,10])
C0151526 (UMLS CUI [1,11])
C0332157 (UMLS CUI [1,2])
C0018624 (UMLS CUI [1,3])
C0014412 (UMLS CUI [1,4])
C0001962 (UMLS CUI [1,5])
C0086190 (UMLS CUI [1,6])
C2054160 (UMLS CUI [1,7])
C0035647 (UMLS CUI [1,8])
C0026591 (UMLS CUI [1,9])
C0015965 (UMLS CUI [1,10])
C0151526 (UMLS CUI [1,11])
Parents and neonates with chromosomal abnormalities or identifiable gene defects as these conditions could potentially be identified as the cause of pre-term birth.
Item
Parents and neonates with chromosomal abnormalities or identifiable gene defects as these conditions could potentially be identified as the cause of pre-term birth.
boolean
C0030551 (UMLS CUI [1,1])
C0021289 (UMLS CUI [1,2])
C0008625 (UMLS CUI [1,3])
C0151526 (UMLS CUI [1,4])
C0021289 (UMLS CUI [1,2])
C0008625 (UMLS CUI [1,3])
C0151526 (UMLS CUI [1,4])