Search results for macrothrombocytopenia

63 hits were found for macrothrombocytopenia

# Family MCID Name MIFTS Score
1
c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 13 4.505
2
MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 19 4.070
3
c BLD121 Bleeding Disorder, Platelet-Type, 15 21 3.506
4
MYH001 May-Hegglin Anomaly 43 2.970
5
EPS006 Epstein Syndrome 38 2.893
6
BRN082 Bernard-Soulier Syndrome, Type C 50 2.862
7
MCR041 Macrothrombocytopenia Progressive Deafness 5 2.862
8
c BLD127 Bleeding Disorder, Platelet-Type, 19 19 2.827
9
DYS127 Dyserythropoietic Anemia and Thrombocytopenia 17 2.786
10
P ATS208 Autosomal Dominant Macrothrombocytopenia 27 2.309
11
FCH003 Fechtner Syndrome 37 2.208
12
MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4 2.065
13
c BLD125 Bleeding Disorder, Platelet-Type, 17 24 2.024
14
TKN001 Takenouchi-Kosaki Syndrome 14 2.024
15
c MYH004 Myh9 Related Thrombocytopenia 22 1.970
16
P BRN111 Bernard-Soulier Syndrome, Type A2 19 1.970
17
MDC003 Medich Giant Platelet Syndrome 5 1.970
18
SBS006 Sebastian Syndrome 35 0.146
19
c BLD122 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 33 0.130
20
P THR014 Thrombocytopenia 64 0.113
21
GLN010 Glanzmann Thrombasthenia 63 0.113
22
PRP030 Purpura 58 0.113
23
SNS001 Sensorineural Hearing Loss 57 0.113
24
STS003 Sitosterolemia 55 0.113
25
THR035 Thrombasthenia 39 0.113
26
P WSK001 Wiskott-Aldrich Syndrome 73 0.092
27
P ALP004 Alport Syndrome 69 0.092
28
GRY002 Gray Platelet Syndrome 55 0.092
29
c PRM225 Primary Thrombocytopenia 39 0.092
30
c BRN108 Branchiootic Syndrome 1 34 0.092
31
P HML002 Hemolytic Anemia 62 0.065
32
P VLC001 Velocardiofacial Syndrome 62 0.065
33
P NTR004 Neutropenia 59 0.065
34
P CTR002 Cataract 58 0.065
35
THR024 Thrombosis 57 0.065
36
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.065
37
c MTR002 Mitral Valve Insufficiency 44 0.065
38
SPL018 Splenomegaly 44 0.065
39
c ALP074 Alport Syndrome, Autosomal Dominant 43 0.065
40
c NNS007 Nonsyndromic Deafness 42 0.065
41
BLD130 Bladder Exstrophy 42 0.065
42
c DFN196 Deafness, Autosomal Dominant 22 41 0.065
43
c DFN250 Deafness, Autosomal Recessive 2 40 0.065
44
c DFN203 Deafness, Autosomal Recessive 30 40 0.065
45
c DFN197 Deafness, Autosomal Recessive 37 39 0.065
46
CRB009 Cerebritis 39 0.065
47
c DFN251 Deafness, Autosomal Dominant 11 38 0.065
48
c DFN202 Deafness, Autosomal Dominant 48 38 0.065
49
c DFN131 Deafness, Autosomal Dominant 1 38 0.065
50
c DFN200 Deafness, Autosomal Dominant 17 37 0.065
51
ALR002 Al-Raqad Syndrome 36 0.065
52
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.065
53
c DFN112 Deafness, Autosomal Recessive 63 35 0.065
54
c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31 0.065
55
c DFN183 Deafness, Autosomal Recessive 83 30 0.065
56
c DFN184 Deafness, Autosomal Recessive 85 30 0.065
57
NNS014 Nonsyndromic Hearing Loss and Deafness 28 0.065
58
c ATS342 Autosomal Dominant Nonsyndromic Deafness 6 28 0.065
59
c ATS006 Autosomal Recessive Nonsyndromic Deafness 28 0.065
60
c DFN150 Deafness, Autosomal Dominant 21 26 0.065
61
PLT004 Platelet Glycoprotein Iv Deficiency 21 0.065
62
AND005 Androgen Insensitivity Syndrome, Mild 16 0.065
63
NNS015 Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 16 0.065
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