Inglés

Subject ID, family ID, father, mother, twin ID, and gender of participants with whole genome sequence data and involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.

6 formularios  
pht006793
Descripción

pht006793

Alias
UMLS CUI [1,1]
C3846158
Unique subject ID
Descripción

SUBJECT_ID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2348585
Family ID
Descripción

FAMILY_ID

Tipo de datos

text

Alias
UMLS CUI [1,1]
C3669174
Mother ID
Descripción

MOTHER

Tipo de datos

text

Alias
UMLS CUI [1,1]
C3669352
UMLS CUI [1,2]
C0030761
Father ID
Descripción

FATHER

Tipo de datos

text

Alias
UMLS CUI [1,1]
C3669177
UMLS CUI [1,2]
C0030761
Gender
Descripción

SEX

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399
Twin ID for monozygotic twins or multiples. A TWIN_ID is not provided for dizygotic twins or multiples.
Descripción

MZ_TWIN_ID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0041427
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0030761
UMLS CUI [1,4]
C3661900
UMLS CUI [1,5]
C0041429
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Similar models

Subject ID, family ID, father, mother, twin ID, and gender of participants with whole genome sequence data and involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.

6 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht006793
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Unique subject ID
string
C2348585 (UMLS CUI [1,1])
FAMILY_ID
Item
Family ID
text
C3669174 (UMLS CUI [1,1])
MOTHER
Item
Mother ID
text
C3669352 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
FATHER
Item
Father ID
text
C3669177 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
Item
Gender
text
C0079399 (UMLS CUI [1,1])
SEX
Code List
Gender
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
MZ_TWIN_ID
Item
Twin ID for monozygotic twins or multiples. A TWIN_ID is not provided for dizygotic twins or multiples.
string
C0041427 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,3])
C3661900 (UMLS CUI [1,4])
C0041429 (UMLS CUI [1,5])
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