Search results for hira

Showing 25 of 446 hits for hira
# 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
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