SUBJECT_ID
Item
De-identified Subject ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
Item
Race of participant
string
C0034510 (UMLS CUI [1,1])
Code List
Race of participant
CL Item
African American (African American)
CL Item
Caucasian (Caucasian)
SOURCE_TISSUE
Item
Type of tissue
string
C2713035 (UMLS CUI [1,1])
Item
Institution or repository from where the cell linewas obtained
string
C1301943 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C1301820 (UMLS CUI [1,3])
C0007600 (UMLS CUI [1,4])
Code List
Institution or repository from where the cell linewas obtained
CL Item
Interntational Skeletal Dysplasia Registry (ISDR)
SOURCE_ID
Item
ID of source line
text
C1300638 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0007600 (UMLS CUI [1,3])
Item
Clinical diagnosis
text
C0332140 (UMLS CUI [1,1])
Code List
Clinical diagnosis
CL Item
amyotrophic lateral sclerosis (ALS)
CL Item
Spinal Muscular Atrophy (SMA)
CL Item
Control (CTR)
C3274648 (UMLS CUI [1,1])
Item
Gene mutated or subtype of disease diagnosis
text
C0017337 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C0449560 (UMLS CUI [1,3])
C0012634 (UMLS CUI [1,4])
C0011900 (UMLS CUI [1,5])
Code List
Gene mutated or subtype of disease diagnosis
CL Item
ALS SOD1 gene mutation (SOD1)
CL Item
ALS C9orf72 mutation (C9)
CL Item
ALS unknown mutation (SPORADIC)
CL Item
SMA Type 1 (TYPE1)
CL Item
Not applicable (NA)
C1272460 (UMLS CUI [1,1])
AGE
Item
Subject age at sampling
text
C0001779 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C0200345 (UMLS CUI [1,3])