Search results for dsp

115 hits were found for dsp

# Family MCID Name MIFTS Score
1
c DSP002 Dsp-Related Ectodermal Dysplasia/skin Fragility Syndrome 6 8.629
2
SKN024 Skin Fragility-Woolly Hair Syndrome 19 5.147
3
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 36 4.325
4
ARR029 Arrhythmogenic Right Ventricular Dysplasia 8 37 4.227
5
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 4.056
6
EPD033 Epidermolysis Bullosa, Lethal Acantholytic 34 4.030
7
P CRD011 Cardiomyopathy 68 3.930
8
PMP001 Pemphigus 50 3.795
9
DLT011 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 17 3.750
10
c DLT002 Dilated Cardiomyopathy 76 3.607
11
c KRT017 Keratosis Palmoplantaris Striata Ii 19 3.607
12
EPD016 Epidermolysis Bullosa 57 3.489
13
P WLL010 Woolly Hair Syndrome 34 3.489
14
DRR010 Darier Disease 60 3.465
15
BLL006 Bullous Pemphigoid 59 3.465
16
ERY003 Erythema Multiforme 55 3.465
17
P MYC008 Myocarditis 54 3.465
18
HLY001 Hailey-Hailey Disease 53 3.465
19
P PMP005 Pemphigus Vulgaris 51 3.465
20
FLL013 Follicular Dendritic Cell Sarcoma 41 3.465
21
DLY005 Delayed Sleep Phase Syndrome 37 3.428
22
ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7 3.151
23
ALP008 Alopecia 57 3.126
24
TTH002 Tooth Agenesis 54 3.099
25
P HRD018 Hair Disease 51 3.099
26
NXS001 Naxos Disease 46 3.099
27
PLM029 Palmoplantar Keratosis 43 3.099
28
PRN049 Paraneoplastic Pemphigus 40 3.099
29
PMP009 Pemphigus Erythematosus 30 3.099
30
P ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 42 2.715
31
ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 36 2.715
32
P KRT059 Keratosis Palmoplantaris Striata 27 2.715
33
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 25 2.715
34
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 24 2.715
35
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 24 2.715
36
ARR011 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 8 8 2.715
37
c MNN043 Meningioma, Familial 59 2.684
38
LYM008 Lymphangiosarcoma 47 2.684
39
CLL001 Cellular Schwannoma 43 2.684
40
PMP004 Pemphigus Foliaceus 42 2.684
41
BLL007 Bullous Skin Disease 38 2.684
42
GRV012 Grover's Disease 36 2.684
43
PLX001 Plexiform Schwannoma 35 2.684
44
PLM137 Palmoplantar Keratoderma and Woolly Hair 34 2.684
45
INT084 Intrinsic Cardiomyopathy 34 2.684
46
ATM016 Autoimmune Disease of Skin and Connective Tissue 29 2.684
47
MNN004 Meningothelial Meningioma 26 2.684
48
EPT006 Epithelioid Neurofibroma 15 2.684
49
SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11 2.462
50
ATR060 Atrial Standstill, Digenic 51 2.312
51
ARR026 Arrhythmogenic Right Ventricular Dysplasia 1 41 2.259
52
PLM134 Pulmonary Fibrosis, Idiopathic 61 2.228
53
c CRD099 Cardiomyopathy, Dilated, 1e 52 2.191
54
c HRD026 Hereditary Ataxia 44 2.191
55
c FML191 Familial Long Qt Syndrome 42 2.191
56
ARR035 Arrhythmogenic Right Ventricular Dysplasia 9 40 2.191
57
P ATR081 Atrial Standstill 37 2.191
58
LNT008 Lentiginosis, Inherited Patterned 34 2.191
59
c LNG044 Long Qt Syndrome 1 62 1.549
60
SLP005 Sleep Disorder 53 0.101
61
c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 24 0.101
62
P LNG028 Long Qt Syndrome 64 0.082
63
CRD119 Cardiac Arrest 61 0.082
64
EXF001 Exfoliation Syndrome 57 0.082
65
c ART101 Aortic Valve Disease 2 53 0.082
66
c ART115 Aortic Valve Disease 1 50 0.082
67
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 48 0.082
68
SDD007 Sudden Cardiac Death 47 0.082
69
P PLN008 Peeling Skin Syndrome 45 0.082
70
LFT009 Left Ventricular Outflow Tract Obstruction 43 0.082
71
P CRD132 Cardiac Conduction Defect 43 0.082
72
VNT011 Ventricular Fibrillation, Familial, 1 41 0.082
73
c KRT056 Keratosis Palmoplantaris Striata I, Ad 20 0.082
74
P LNG032 Lung Cancer 95 0.058
75
P PRS040 Prostate Cancer 90 0.058
76
P NRV007 Nervous System Disease 71 0.058
77
P NRB001 Neuroblastoma 70 0.058
78
P AMY004 Amyloidosis 65 0.058
79
CHR066 Chronic Fatigue Syndrome 64 0.058
80
MDD011 Mood Disorder 61 0.058
81
EYD002 Eye Disease 61 0.058
82
ACQ007 Acquired Immunodeficiency Syndrome 60 0.058
83
PRM097 Primary Immunodeficiency Disease 60 0.058
84
P NRP001 Neuropathy 59 0.058
85
P SHR029 Short Syndrome 58 0.058
86
P UVT001 Uveitis 58 0.058
87
ETH011 Ethylmalonic Encephalopathy 56 0.058
88
NRM005 Neuromuscular Disease 56 0.058
89
PHR003 Pharyngitis 56 0.058
90
PRP019 Peripheral Nervous System Disease 55 0.058
91
RTN018 Retinal Disease 53 0.058
92
ADL002 Adult Syndrome 52 0.058
93
ECT006 Ectodermal Dysplasia 52 0.058
94
INT007 Intermediate Coronary Syndrome 50 0.058
95
HMN014 Human Immunodeficiency Virus Infectious Disease 50 0.058
96
P PNV001 Panuveitis 50 0.058
97
CSY001 C Syndrome 50 0.058
98
NSD001 Nose Disease 48 0.058
99
c ANT034 Anterior Uveitis 48 0.058
100
P PRK001 Porokeratosis 45 0.058
101
RTR008 Root Resorption 42 0.058
102
IRD001 Iridocyclitis 41 0.058
103
ADT003 Auditory System Disease 40 0.058
104
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.058
105
P ADV001 Advanced Sleep Phase Syndrome 37 0.058
106
GLB003 Globe Disease 32 0.058
107
IRS003 Iris Disease 31 0.058
108
c PLN021 Peeling Skin Syndrome 3 29 0.058
109
LCH014 Lichen Amyloidosis 29 0.058
110
EYC003 Eye Accommodation Disease 24 0.058
111
P GNR027 Generalized Peeling Skin Syndrome 19 0.058
112
UVL003 Uveal Diseases 18 0.058
113
c ADV002 Advanced Sleep-Phase Syndrome, Familial, 2 17 0.058
114
c ADV005 Advanced Sleep Phase Syndrome 3 15 0.058
115
BNJ001 Benjamin Syndrome 9 0.058
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