ID

45538

Description

Principal Investigator: Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA MeSH: Mendelian Conditions,Alstrom Syndrome,Arrhythmogenic Right Ventricular Dysplasia,Syndactyly,Craniofacial Abnormalities,Neurofibromatoses,Ullrich congenital muscular dystrophy,Aortic Aneurysm, Thoracic,Rubinstein-Taybi Syndrome,Acne Inversa,Achondroplasia,Exostoses, Multiple Hereditary,Arthrogryposis, Renal Dysfunction, And Cholestasis,Van Den Ende-Gupta Syndrome,BO Syndrome 3,SMDCRD,Loeys-Dietz Syndrome, Type 1a,Cardiomyopathy, Dilated,OI, Type VI,Sotos Syndrome,Charcot-Marie-Tooth Disease,Microcephaly https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

Link

dbGaP study = phs000711

Keywords

  1. 12/29/22 12/29/22 - Simon Heim
Copyright Holder

Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA

Uploaded on

December 29, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000711 Baylor Hopkins Center for Mendelian Genomics (BH CMG)

This subject phenotype data table includes subject's ancestry and consanguinity relative to parents.

pht003723
Description

pht003723

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Ancestry of the subject
Description

ANCESTRY

Data type

string

Alias
UMLS CUI [1,1]
C0034510
Consanguinity relative to parents
Description

CONSANGUINITY

Data type

text

Alias
UMLS CUI [1,1]
C0009789
UMLS CUI [1,2]
C0030551

Similar models

This subject phenotype data table includes subject's ancestry and consanguinity relative to parents.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003723
C3846158 (UMLS CUI [1,1])
SUBJID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
ANCESTRY
Item
Ancestry of the subject
string
C0034510 (UMLS CUI [1,1])
Item
Consanguinity relative to parents
text
C0009789 (UMLS CUI [1,1])
C0030551 (UMLS CUI [1,2])
Code List
Consanguinity relative to parents
CL Item
Yes (1)
CL Item
No (2)
CL Item
Unknown (3)

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