Search results for macrothrombocytopenia

66 hits were found for macrothrombocytopenia

# Family MCID Name MIFTS Score
1
MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 15 4.492
2
MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 20 4.022
3
MYH001 May-Hegglin Anomaly 45 3.576
4
FCH003 Fechtner Syndrome 38 3.556
5
c BLD121 Bleeding Disorder, Platelet-Type, 15 20 3.464
6
TKN001 Takenouchi-Kosaki Syndrome 30 3.407
7
P BRN019 Bernard-Soulier Syndrome 60 2.935
8
EPS006 Epstein Syndrome 33 2.886
9
c BLD127 Bleeding Disorder, Platelet-Type, 19 19 2.829
10
MCR041 Macrothrombocytopenia Progressive Deafness 5 2.829
11
DYS127 Dyserythropoietic Anemia and Thrombocytopenia 20 2.753
12
ATS208 Autosomal Dominant Macrothrombocytopenia 27 2.317
13
SBS006 Sebastian Syndrome 30 2.133
14
MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4 2.041
15
c BLD125 Bleeding Disorder, Platelet-Type, 17 24 2.000
16
c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 22 1.947
17
MYH004 Myh9 Related Thrombocytopenia 20 1.947
18
MDC003 Medich Giant Platelet Syndrome 5 1.947
19
c BRN108 Branchiootic Syndrome 1 47 0.193
20
c BLD152 Bleeding Disorder, Platelet-Type, 16 34 0.158
21
P THR014 Thrombocytopenia 65 0.144
22
STS003 Sitosterolemia 58 0.144
23
GLN010 Glanzmann Thrombasthenia 66 0.129
24
PRP030 Purpura 61 0.129
25
THR035 Thrombasthenia 46 0.129
26
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.129
27
SNS001 Sensorineural Hearing Loss 59 0.111
28
c PRM225 Primary Thrombocytopenia 37 0.111
29
P WSK001 Wiskott-Aldrich Syndrome 76 0.091
30
ALP046 Alport Syndrome, X-Linked 74 0.091
31
VLC001 Velocardiofacial Syndrome 64 0.091
32
GRY002 Gray Platelet Syndrome 56 0.091
33
P ALP074 Alport Syndrome, Autosomal Dominant 47 0.091
34
BLD053 Blood Platelet Disease 45 0.091
35
P PRV002 Periventricular Nodular Heterotopia 44 0.091
36
c BLD140 Blood Group, I System 37 0.091
37
THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 22 0.091
38
STR067 Stroke, Ischemic 84 0.064
39
P ANR048 Aniridia 1 68 0.064
40
P HML002 Hemolytic Anemia 62 0.064
41
THR024 Thrombosis 61 0.064
42
P CTR002 Cataract 60 0.064
43
P NTR004 Neutropenia 60 0.064
44
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.064
45
THR100 Thrombocytopenic Purpura, Autoimmune 57 0.064
46
INF034 Infective Endocarditis 56 0.064
47
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.064
48
HPT082 Hepatic Adenomas, Familial 52 0.064
49
ISC002 Ischemic Optic Neuropathy 48 0.064
50
CRN017 Coronary Thrombosis 48 0.064
51
c MTR002 Mitral Valve Insufficiency 46 0.064
52
EXS017 Exstrophy of Bladder 45 0.064
53
SPL018 Splenomegaly 45 0.064
54
CRB009 Cerebritis 41 0.064
55
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.064
56
P BLD051 Blood Coagulation Disease 38 0.064
57
FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 36 0.064
58
ATM012 Autoimmune Disease of Blood 31 0.064
59
ART110 Arteritic Anterior Ischemic Optic Neuropathy 31 0.064
60
ALR002 Al-Raqad Syndrome 30 0.064
61
c INH004 Inherited Blood Coagulation Disease 29 0.064
62
PLT004 Platelet Glycoprotein Iv Deficiency 29 0.064
63
MYH015 Myh-9 Related Disease 24 0.064
64
ANR038 Anorexia Nervosa 1 21 0.064
65
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.064
66
BLD137 Blood Group--Ahonen 17 0.064
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