Search results for tbx5

100 hits were found for tbx5

# Family MCID Name MIFTS Score
1
HLT001 Holt-Oram Syndrome 63 7.395
2
P HRT032 Heart Disease 75 4.382
3
c ART101 Aortic Valve Disease 2 65 3.787
4
P VNT002 Ventricular Septal Defect 60 3.631
5
ULN003 Ulnar-Mammary Syndrome 57 3.111
6
P ATR011 Atrial Fibrillation 66 2.798
7
P ATR001 Atrioventricular Septal Defect 55 2.758
8
c DLT002 Dilated Cardiomyopathy 79 2.736
9
PTN001 Patent Foramen Ovale 60 2.713
10
c ATR062 Atrial Septal Defect 1 39 2.713
11
HRT011 Heart Septal Defect 50 2.438
12
P ATR010 Atrial Heart Septal Defect 60 2.406
13
DNR002 Duane-Radial Ray Syndrome 56 2.292
14
HRT038 Heart, Malformation of 32 2.292
15
P TTR001 Tetralogy of Fallot 70 2.268
16
ATR057 Atrioventricular Block 55 2.243
17
c MTR002 Mitral Valve Insufficiency 48 2.243
18
CLF027 Cleft Palate, Isolated 64 2.183
19
DGR001 Digeorge Syndrome 64 2.183
20
c ART115 Aortic Valve Disease 1 75 2.145
21
APR006 Apert Syndrome 70 2.145
22
P LFT003 Left Ventricular Noncompaction 54 2.145
23
RRC028 Rare Congenital Non-Syndromic Heart Malformation 13 1.689
24
P PTN014 Patent Ductus Arteriosus 1 60 1.636
25
WLF001 Wolff-Parkinson-White Syndrome 66 1.604
26
P HYP055 Hypoplastic Left Heart Syndrome 63 1.604
27
THM005 Thumb Deformity 32 1.604
28
P TWN003 Townes-Brocks Syndrome 55 1.566
29
THR009 Thrombocytopenia-Absent Radius Syndrome 52 1.566
30
MLF005 Malformation Syndrome with Short Stature 6 1.566
31
P BRG001 Brugada Syndrome 71 1.517
32
CHR103 Charge Syndrome 67 1.517
33
c FML001 Familial Atrial Fibrillation 65 1.517
34
c DPH024 Diaphragmatic Hernia, Congenital 63 1.517
35
NNN026 Noonan Syndrome with Multiple Lentigines 62 1.517
36
RGH009 Right Atrial Isomerism 60 1.517
37
MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58 1.517
38
TTL012 Total Anomalous Pulmonary Venous Return 1 57 1.517
39
DBL002 Double Outlet Right Ventricle 56 1.517
40
EBS001 Ebstein Anomaly 55 1.517
41
CHR101 Char Syndrome 55 1.517
42
ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 54 1.517
43
P DXT004 Dextro-Looped Transposition of the Great Arteries 54 1.517
44
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.517
45
TRC062 Tricuspid Atresia 54 1.517
46
CLB010 Coloboma of Macula 52 1.517
47
JCB001 Jacobsen Syndrome 52 1.517
48
SNT005 Sinoatrial Node Disease 49 1.517
49
PLM041 Pulmonary Valve Stenosis 49 1.517
50
c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 47 1.517
51
P TRC087 Tricuspid Valve Disease 44 1.517
52
PLL008 Pallister-Killian Syndrome 43 1.517
53
FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 43 1.517
54
P PLM040 Pulmonary Valve Disease 39 1.517
55
c EXD012 Exudative Vitreoretinopathy 7 35 1.517
56
HYP223 Hypoplastic Right Heart Syndrome 34 1.517
57
LMB003 Lumbosacral Lipoma 33 1.517
58
c CHR565 Chromosomal Deletion Syndrome 25 1.517
59
c ATR087 Atrial Standstill 1 75 0.119
60
c PRG042 Progressive Familial Heart Block, Type Ia 69 0.103
61
INT276 Interatrial Communication 42 0.103
63
BRR014 Barrett Esophagus 65 0.084
64
CRD223 Cardiac Arrhythmia 60 0.084
65
OST016 Osteochondrosis 53 0.084
66
LFT001 Left Bundle Branch Hemiblock 49 0.084
67
P CRC039 Coarctation of Aorta 47 0.084
68
TCH005 Tièche-Jadassohn Nevus 28 0.084
69
RDL037 Radial Ray Deficiency, X-Linked 15 0.084
70
P CLR023 Colorectal Cancer 99 0.059
71
DWN001 Down Syndrome 70 0.059
72
CNG034 Congestive Heart Failure 69 0.059
73
OST159 Osteogenic Sarcoma 66 0.059
74
P ADN016 Adenocarcinoma 64 0.059
75
P ESP024 Esophagitis 62 0.059
76
HYP066 Hyperglycemia 61 0.059
77
ORL011 Oral Cancer 60 0.059
78
P PLY006 Polydactyly 59 0.059
79
P MTR012 Mitral Valve Disease 58 0.059
80
c ACT075 Acute Myocardial Infarction 57 0.059
81
EMB004 Embryonal Carcinoma 56 0.059
82
P SCK002 Sick Sinus Syndrome 55 0.059
83
c PRG043 Progressive Familial Heart Block, Type Ib 54 0.059
84
P BRC006 Brachydactyly 53 0.059
85
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.059
86
HYP080 Hypogonadism 50 0.059
87
P ART018 Aortic Valve Insufficiency 49 0.059
88
RGH001 Right Bundle Branch Block 48 0.059
89
STS002 Situs Inversus 45 0.059
90
SYN005 Synostosis 45 0.059
91
P RDL002 Radioulnar Synostosis 45 0.059
92
CYT002 Cytokine Deficiency 42 0.059
93
P ATR066 Atrial Septal Defect 2 40 0.059
94
CHR178 Chromosomal Triplication 35 0.059
95
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.059
96
SNG003 Single Ventricular Heart 30 0.059
97
ATR055 Atrial Septal Aneurysm 25 0.059
98
ULN023 Ulnar Hypoplasia 25 0.059
99
P PHC014 Phocomelia 24 0.059
100
QDR002 Quadricuspid Aortic Valve 20 0.059
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