Search results for "macrothrombocytopenia"

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

61 hits were found for 'macrothrombocytopenia'

# Family MCID Name MIFTS Score
1
MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 20 4.063
2
c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 13 3.519
3
MDT002 Mediterranean Macrothrombocytopenia 10 3.005
4
MYH001 May-Hegglin Anomaly 43 2.958
5
EPS006 Epstein Syndrome 36 2.904
6
MCR041 Macrothrombocytopenia Progressive Deafness 5 2.873
7
P DYS127 Dyserythropoietic Anemia and Thrombocytopenia 22 2.796
8
P ATS208 Autosomal Dominant Macrothrombocytopenia 24 2.302
9
FCH003 Fechtner Syndrome 36 2.194
10
c BLD121 Bleeding Disorder, Platelet-Type, 15 19 2.073
11
MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4 2.073
12
c SVR084 Severe Autosomal Recessive Macrothrombocytopenia 4 2.073
13
BRN082 Bernard-Soulier Syndrome, Type C 51 2.031
14
c MYH004 Myh9 Related Thrombocytopenia 22 2.031
15
c BLD125 Bleeding Disorder, Platelet-Type, 17 20 2.031
16
P BRN111 Bernard-Soulier Syndrome, Type A2 20 1.977
17
MDC003 Medich Giant Platelet Syndrome 5 1.977
18
SBS006 Sebastian Syndrome 34 0.147
19
STS003 Sitosterolemia 54 0.132
20
SNS001 Sensorineural Hearing Loss 49 0.132
21
PRP030 Purpura 47 0.132
22
P TRC086 Trichohepatoenteric Syndrome 1 42 0.132
23
GLN010 Glanzmann Thrombasthenia 65 0.114
24
P THR014 Thrombocytopenia 50 0.114
25
THR035 Thrombasthenia 36 0.114
26
ANR002 Aniridia 72 0.093
27
P ALP004 Alport Syndrome 66 0.093
28
P HRM001 Hermansky-Pudlak Syndrome 62 0.093
29
c PNC108 Pancreatitis, Hereditary 59 0.093
30
P HMP002 Hemophagocytic Lymphohistiocytosis 59 0.093
31
ACN002 Acanthosis Nigricans 53 0.093
32
HNT002 Hantavirus Pulmonary Syndrome 52 0.093
33
EVN001 Evans' Syndrome 46 0.093
34
ADT003 Auditory System Disease 42 0.093
35
SPL018 Splenomegaly 34 0.093
36
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 34 0.093
37
P ATX010 Ataxia Neuropathy Spectrum 31 0.093
38
c BLD122 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 27 0.093
39
P WSK001 Wiskott-Aldrich Syndrome 68 0.066
40
P VLC001 Velocardiofacial Syndrome 61 0.066
41
GRY002 Gray Platelet Syndrome 53 0.066
42
P HML002 Hemolytic Anemia 52 0.066
43
SCH016 Schimke Immunoosseous Dysplasia 51 0.066
44
P NTR004 Neutropenia 50 0.066
45
TMP001 Temporal Lobe Epilepsy 48 0.066
46
P CTR002 Cataract 48 0.066
47
THR013 Thoracic Outlet Syndrome 47 0.066
48
FCL014 Focal Epilepsy 47 0.066
49
MYC002 Mycobacterium Avium Complex Disease 46 0.066
50
FCT013 Factor V Leiden Thrombophilia 43 0.066
51
P PRV002 Periventricular Nodular Heterotopia 43 0.066
52
TTR016 Tetra-Amelia Syndrome 38 0.066
53
GLM011 Glomerulosclerosis 38 0.066
54
CRB009 Cerebritis 37 0.066
55
c ALP074 Alport Syndrome, Autosomal Dominant 36 0.066
56
c MTR002 Mitral Valve Insufficiency 32 0.066
57
QLT001 Qualitative Platelet Defect 30 0.066
58
PLT004 Platelet Glycoprotein Iv Deficiency 24 0.066
59
ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 20 0.066
60
AND005 Androgen Insensitivity Syndrome, Mild 19 0.066
61
ATS301 Autosomal Dominant Epilepsy with Auditory Features 18 0.066