Inglese

The dataset provides diagnosis information, associated OMIM IDs and general sociodemographic information. Study version 4 makes available exome sequence and/or .vcf data of n=1896 subjects (plus SNP array data of one subject with seven samples, and pedigree data).

5 moduli  
pht003979
Descrizione

pht003979

Alias
UMLS CUI [1,1]
C3846158
Sequence Lab ID number, which is de-identified and unique
Descrizione

SUBJID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2348184
UMLS CUI [1,2]
C4684638
Subject's gender
Descrizione

SEX

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0079399
Ancestry of the subject
Descrizione

ANCESTRY

Tipo di dati

string

Alias
UMLS CUI [1,1]
C3841890
Name of disorder; presumed or confirmed.
Descrizione

CONDITION

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0027365
UMLS CUI [1,3]
C4684849
UMLS CUI [2,1]
C0012634
UMLS CUI [2,2]
C0027365
UMLS CUI [2,3]
C1271091
Case - control status of the subject
Descrizione

AFFECTION_STATUS

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3274646
Consanguinity relative to parents
Descrizione

CONSANGUINITY

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0009789
Phenotype ID from Online Mendelian Inheritance in Man OMIM
Descrizione

OMIM_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0031437
UMLS CUI [1,2]
C2348585
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Similar models

The dataset provides diagnosis information, associated OMIM IDs and general sociodemographic information. Study version 4 makes available exome sequence and/or .vcf data of n=1896 subjects (plus SNP array data of one subject with seven samples, and pedigree data).

5 moduli
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht003979
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Sequence Lab ID number, which is de-identified and unique
string
C2348184 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Subject's gender
text
C0079399 (UMLS CUI [1,1])
SEX
Code List
Subject's gender
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
CL Item
Unknown (U)
CL Item
Unknown (UNK)
Item
Ancestry of the subject
string
C3841890 (UMLS CUI [1,1])
ANCESTRY
Code List
Ancestry of the subject
CL Item
African (African)
CL Item
Asian (Asian)
CL Item
Pacific Islander (Pacific Islander)
CL Item
Native American (Native American)
CL Item
European (European)
CL Item
Other (Other)
CONDITION
Item
Name of disorder; presumed or confirmed.
string
C0012634 (UMLS CUI [1,1])
C0027365 (UMLS CUI [1,2])
C4684849 (UMLS CUI [1,3])
C0012634 (UMLS CUI [2,1])
C0027365 (UMLS CUI [2,2])
C1271091 (UMLS CUI [2,3])
Item
Case - control status of the subject
text
C3274646 (UMLS CUI [1,1])
AFFECTION_STATUS
Code List
Case - control status of the subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Unaffected (2)
C3274648 (UMLS CUI [1,1])
CL Item
Unknown (3)
Item
Consanguinity relative to parents
text
C0009789 (UMLS CUI [1,1])
CONSANGUINITY
Code List
Consanguinity relative to parents
CL Item
Yes (1)
CL Item
No (2)
CL Item
Unknown (3)
Item
Phenotype ID from Online Mendelian Inheritance in Man OMIM
string
C0031437 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
OMIM_ID
Code List
Phenotype ID from Online Mendelian Inheritance in Man OMIM
CL Item
TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 (106700)
CL Item
ATRIAL SEPTAL DEFECT 1 (108800)
CL Item
AORTIC VALVE DISEASE 1 (109730)
CL Item
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (110100)
CL Item
CARDIOMYOPATHY, DILATED, 1A (115200)
CL Item
COARCTATION OF AORTA (120000)
CL Item
PNEUMOTHORAX, PRIMARY SPONTANEOUS (173600)
CL Item
PULMONARY FIBROSIS, IDIOPATHIC (178500)
CL Item
SUPRAVALVULAR AORTIC STENOSIS (185500)
CL Item
TETRALOGY OF FALLOT (187500)
CL Item
CONOTRUNCAL HEART MALFORMATIONS (217095)
CL Item
EBSTEIN ANOMALY (224700)
CL Item
HYPOPLASTIC LEFT HEART SYNDROME 1 (241550)
CL Item
CILIARY DYSKINESIA, PRIMARY, 1 (244400)
CL Item
PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM (265150)
CL Item
PULMONIC STENOSIS (265500)
CL Item
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (308050)
CL Item
RETT SYNDROME (312750)
CL Item
HEMANGIOMA, CAPILLARY INFANTILE (602089)
CL Item
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (605726)
CL Item
ATRIOVENTRICULAR SEPTAL DEFECT (606215)
CL Item
PATENT DUCTUS ARTERIOSUS (607411)
CL Item
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1 (608808)
CL Item
ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE (609165)
CL Item
VENTRICULAR SEPTAL DEFECT 1 (614429)
CL Item
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3 (614954)
CL Item
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (615779)
CL Item
ATRIAL SEPTAL DEFECT 1; PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM (108800;265150)
CL Item
ATRIAL SEPTAL DEFECT 1; VENTRICULAR SEPTAL DEFECT 1 (108800;614429)
CL Item
COARCTATION OF AORTA; ATRIAL SEPTAL DEFECT 1; VENTRICULAR SEPTAL DEFECT 1 (120000;108800;614429)
CL Item
COARCTATION OF AORTA; VENTRICULAR SEPTAL DEFECT 1 (120000;614429)
CL Item
TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT 1 (187500;108800)
CL Item
CONOTRUNCAL HEART MALFORMATIONS; VENTRICULAR SEPTAL DEFECT 1 (217095;614429)
CL Item
PULMONIC STENOSIS; VENTRICULAR SEPTAL DEFECT 1 (265500;614429)
CL Item
PULMONIC STENOSIS; VENTRICULAR SEPTAL DEFECT 1; ATRIAL SEPTAL DEFECT 1 (265500;614429;108800)
CL Item
PATENT DUCTUS ARTERIOSUS; ATRIAL SEPTAL DEFECT 1; VENTRICULAR SEPTAL DEFECT 1 (607411;108800;614429)
CL Item
PATENT DUCTUS ARTERIOSUS; COARCTATION OF AORTA; VENTRICULAR SEPTAL DEFECT 1 (607411;120000;614429)
CL Item
VENTRICULAR SEPTAL DEFECT 1; COARCTATION OF AORTA (614429;120000)
CL Item
Not Applicable (NA)
C1272460 (UMLS CUI [1,1])
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