Search results for "macrothrombocytopenia"

The MalaCard for "macrothrombocytopenia" has been retired.
Searching MalaCards for entries containing "macrothrombocytopenia"

43 hits were found for 'macrothrombocytopenia'

# Family MCID Name MIFTS Score
1
c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 13 4.464
2
MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 19 4.036
3
MYH001 May-Hegglin Anomaly 43 2.974
4
STS003 Sitosterolemia 57 2.888
5
EPS006 Epstein Syndrome 40 2.888
6
BRN082 Bernard-Soulier Syndrome, Type C 50 2.854
7
c BLD121 Bleeding Disorder, Platelet-Type, 15 20 2.854
8
MCR041 Macrothrombocytopenia Progressive Deafness 5 2.854
9
DYS127 Dyserythropoietic Anemia and Thrombocytopenia 17 2.769
10
P ATS208 Autosomal Dominant Macrothrombocytopenia 26 2.335
11
FCH003 Fechtner Syndrome 37 2.223
12
MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4 2.064
13
c BLD125 Bleeding Disorder, Platelet-Type, 17 22 2.018
14
c MYH004 Myh9 Related Thrombocytopenia 21 2.018
15
TKN001 Takenouchi-Kosaki Syndrome 15 2.018
16
P BRN111 Bernard-Soulier Syndrome, Type A2 18 1.958
17
c BLD127 Bleeding Disorder, Platelet-Type, 19 18 1.958
18
MDC003 Medich Giant Platelet Syndrome 4 1.958
19
SBS006 Sebastian Syndrome 37 0.162
20
P THR014 Thrombocytopenia 64 0.125
21
GLN010 Glanzmann Thrombasthenia 63 0.125
22
PRP030 Purpura 59 0.125
23
SNS001 Sensorineural Hearing Loss 57 0.125
24
THR035 Thrombasthenia 42 0.125
25
c BLD122 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 32 0.125
26
P WSK001 Wiskott-Aldrich Syndrome 72 0.102
27
P ALP004 Alport Syndrome 68 0.102
28
c PRM225 Primary Thrombocytopenia 42 0.102
29
c BRN108 Branchiootic Syndrome 1 36 0.102
30
P VLC001 Velocardiofacial Syndrome 62 0.072
31
P HML002 Hemolytic Anemia 60 0.072
32
P NTR004 Neutropenia 59 0.072
33
P CTR002 Cataract 57 0.072
34
GRY002 Gray Platelet Syndrome 55 0.072
35
c MTR002 Mitral Valve Insufficiency 44 0.072
36
SPL018 Splenomegaly 44 0.072
37
GLM011 Glomerulosclerosis 44 0.072
38
CRB009 Cerebritis 38 0.072
39
c ALP074 Alport Syndrome, Autosomal Dominant 38 0.072
40
ALR002 Al-Raqad Syndrome 36 0.072
41
PLT004 Platelet Glycoprotein Iv Deficiency 21 0.072
42
AND005 Androgen Insensitivity Syndrome, Mild 16 0.072
43
c DST092 Distal Hereditary Motor Neuropathy Type 7 11 0.072