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

36 hits were found for 'macrothrombocytopenia'

# ++ Fam MCID Name MIFTS Score
1
MCR041 Macrothrombocytopenia Progressive Deafness 5 4.028
2
MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 17 3.952
3
STS003 Sitosterolemia 51 3.382
4
DYS127 Dyserythropoietic Anemia and Thrombocytopenia 17 3.227
5
MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 6 3.227
6
MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 1 3.227
7
MYH004 Myh9 Related Thrombocytopenia 31 2.344
8
MDC003 Medich Giant Platelet Syndrome 1 2.282
9
SBS006 Sebastian Syndrome 25 0.183
10
NSY001 N Syndrome 57 0.149
11
ALP004 Alport Syndrome 55 0.149
12
SNS001 Sensorineural Hearing Loss 55 0.129
13
THR013 Thoracic Outlet Syndrome 53 0.129
14
P ATS015 Autosomal Dominant Alport Syndrome 43 0.129
15
P BRN019 Bernard-Soulier Syndrome 56 0.106
16
NPH051 Nephritis 55 0.106
17
GLN003 Glanzmann's Thrombasthenia 68 0.075
18
WST001 West Syndrome 64 0.075
19
PRP030 Purpura 60 0.075
20
HML002 Hemolytic Anemia 60 0.075
21
c NTR004 Neutropenia 59 0.075
22
P VLC001 Velocardiofacial Syndrome 57 0.075
23
P PRT039 Proteinuria 51 0.075
24
GRY002 Gray Platelet Syndrome 51 0.075
25
SPL018 Splenomegaly 50 0.075
26
THR035 Thrombasthenia 49 0.075
27
c CTR002 Cataract 48 0.075
28
P PRV012 Periventricular Heterotopia 41 0.075
29
P MTR002 Mitral Valve Insufficiency 39 0.075
30
P PRV002 Periventricular Nodular Heterotopia 37 0.075
31
c CHR235 Chromosome 22q Deletion 24 0.075
32
BLD122 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 23 0.075
33
c BRN064 Bernard-Soulier Syndrome Type B 14 0.075
34
c RRD005 Rare Deafness 10 0.075
35
c BRN063 Bernard-Soulier Syndrome Type a 10 0.075
36
c BLD121 Bleeding Disorder, Platelet-Type, 15 4 0.075