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Search results for
hira
Showing 25 of 446 hits for hira
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#
Family
MCID
Name
MIFTS
Score
1
CHR346
Chromosome 22q11.2 Deletion Syndrome, Distal
67
20.611
2
DGR001
Digeorge Syndrome
59
20.184
3
P
TTR001
Tetralogy of Fallot
70
12.612
4
VLC001
Velocardiofacial Syndrome
52
12.508
5
HRT011
Heart Septal Defect
49
8.920
6
P
ATR010
Atrial Heart Septal Defect
58
8.542
7
P
VNT002
Ventricular Septal Defect
58
8.497
8
c
ALP101
Alpha-Thalassemia
63
8.472
9
P
RTN008
Retinitis Pigmentosa
80
7.798
10
CHR659
Chromosome 22q11.2 Duplication Syndrome
47
7.712
11
TCL025
T-Cell Immunodeficiency with Thymic Aplasia
52
7.593
12
P
PTN014
Patent Ductus Arteriosus 1
59
7.593
13
TRC097
Tracheomalacia
52
7.593
14
c
CHR565
Chromosomal Deletion Syndrome
25
7.593
15
P
CHR084
Chromosomal Disease
33
7.593
16
P
ORF002
Orofacial Cleft
42
7.593
17
c
ICH048
Ichthyosis, Congenital, Autosomal Recessive 9
33
7.593
18
P
END033
Endocarditis
57
3.485
19
P
BCT020
Bacteremia 2
48
2.532
20
DRM043
Dermochondrocorneal Dystrophy
30
2.328
21
INF034
Infective Endocarditis
52
2.234
22
c
PRS114
Prostate Cancer, Hereditary, 2
33
2.184
23
P
DRR001
Diarrhea
55
1.940
24
P
PRS040
Prostate Cancer
97
1.864
25
P
PYL005
Pyelonephritis
56
1.861
1
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