Search results for dsp

94 hits were found for dsp

# Family MCID Name MIFTS Score
1
ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 35 5.096
2
SKN024 Skin Fragility-Woolly Hair Syndrome 22 4.937
3
CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 19 4.416
4
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 41 4.378
5
EPD033 Epidermolysis Bullosa, Lethal Acantholytic 38 4.055
6
P PMP001 Pemphigus 55 3.823
7
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 57 3.734
8
P DLT002 Dilated Cardiomyopathy 76 3.639
9
DLY008 Delayed Sleep Phase Disorder 38 3.599
10
P WLL010 Woolly Hair Syndrome 36 3.539
11
EPD016 Epidermolysis Bullosa 57 3.515
12
P HRT032 Heart Disease 80 3.489
13
P ALP008 Alopecia 56 3.150
14
BLL006 Bullous Pemphigoid 64 3.121
15
ERY003 Erythema Multiforme 60 3.121
16
P MYC008 Myocarditis 58 3.121
17
P PMP005 Pemphigus Vulgaris 56 3.121
18
TTH002 Tooth Agenesis 54 3.121
19
FLL013 Follicular Dendritic Cell Sarcoma 43 3.121
20
PRN022 Perineurioma 38 3.121
21
c KRT017 Keratosis Palmoplantaris Striata Ii 15 2.877
22
ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7 2.764
23
STR096 Striate Palmoplantar Keratoderma 33 2.736
24
DRR014 Darier-White Disease 60 2.703
25
P HRD018 Hair Disease 53 2.703
26
c BNG091 Benign Chronic Pemphigus 52 2.703
27
NXS001 Naxos Disease 47 2.703
28
PRN049 Paraneoplastic Pemphigus 45 2.703
29
PLM029 Palmoplantar Keratosis 41 2.703
30
PMP009 Pemphigus Erythematosus 31 2.703
31
SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11 2.537
32
c ATR087 Atrial Standstill 1 59 2.379
33
c MNN043 Meningioma, Familial 69 2.207
34
c CRD099 Cardiomyopathy, Dilated, 1e 53 2.207
35
LYM008 Lymphangiosarcoma 51 2.207
36
ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 44 2.207
37
BLL007 Bullous Skin Disease 42 2.207
38
CLL001 Cellular Schwannoma 38 2.207
39
ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 38 2.207
40
ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 37 2.207
41
PLM137 Palmoplantar Keratoderma and Woolly Hair 35 2.207
42
PLX001 Plexiform Schwannoma 34 2.207
43
GRV012 Grover's Disease 33 2.207
44
ATM016 Autoimmune Disease of Skin and Connective Tissue 24 2.207
45
EPT006 Epithelioid Neurofibroma 10 2.207
46
c ART101 Aortic Valve Disease 2 65 1.682
47
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 54 1.682
48
P CRD132 Cardiac Conduction Defect 53 1.682
49
c ART115 Aortic Valve Disease 1 51 1.682
50
PLM134 Pulmonary Fibrosis, Idiopathic 73 1.611
51
ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 34 1.611
52
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 26 1.611
53
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 25 1.611
54
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 25 1.611
55
INT084 Intrinsic Cardiomyopathy 29 1.561
56
P NRV007 Nervous System Disease 75 0.106
57
SLP005 Sleep Disorder 59 0.106
58
P ATX030 Ataxia-Telangiectasia 80 0.086
59
ACR006 Aceruloplasminemia 65 0.086
60
P LNG028 Long Qt Syndrome 63 0.086
61
CRD119 Cardiac Arrest 63 0.086
62
P INF032 Infertility 59 0.086
63
TLN003 Telangiectasis 52 0.086
64
CRB027 Cerebellar Disease 48 0.086
65
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.086
66
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 47 0.086
67
SPN050 Spinocerebellar Degeneration 41 0.086
68
c FML250 Familial Progressive Cardiac Conduction Defect 33 0.086
69
SPN187 Spinocerebellar Atrophy 23 0.086
70
P LNG032 Lung Cancer 99 0.061
71
P PRS040 Prostate Cancer 88 0.061
72
P NRB001 Neuroblastoma 73 0.061
73
P AMY004 Amyloidosis 69 0.061
74
ACQ007 Acquired Immunodeficiency Syndrome 65 0.061
75
P NRP001 Neuropathy 63 0.061
76
P UVT001 Uveitis 61 0.061
77
NRM005 Neuromuscular Disease 60 0.061
78
NRT004 Neuritis 55 0.061
79
PRP019 Peripheral Nervous System Disease 53 0.061
80
c ANT034 Anterior Uveitis 53 0.061
81
P PNV001 Panuveitis 52 0.061
82
P PRK001 Porokeratosis 49 0.061
83
RTR008 Root Resorption 44 0.061
84
IRD001 Iridocyclitis 44 0.061
85
HPT070 Hepatosplenic T-Cell Lymphoma 43 0.061
86
c BLD140 Blood Group, I System 37 0.061
87
P ADV001 Advanced Sleep Phase Syndrome 36 0.061
88
c TRC078 Trichohepatoenteric Syndrome 2 34 0.061
89
LCH014 Lichen Amyloidosis 33 0.061
90
IRS003 Iris Disease 31 0.061
91
UVL003 Uveal Diseases 23 0.061
92
c PRK080 Porokeratosis 3, Multiple Types 22 0.061
93
c PRK075 Porokeratosis 7, Multiple Types 18 0.061
94
c PRK074 Porokeratosis 9, Multiple Types 14 0.061
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