Search results for dsp

136 hits were found for dsp

# Family MCID Name MIFTS Score
1
c DSP002 Dsp-Related Ectodermal Dysplasia/skin Fragility Syndrome 6 6.965
2
SKN024 Skin Fragility-Woolly Hair Syndrome 21 5.104
3
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 39 4.299
4
EPD033 Epidermolysis Bullosa, Lethal Acantholytic 36 3.995
5
P CRD011 Cardiomyopathy 67 3.899
6
ARR029 Arrhythmogenic Right Ventricular Dysplasia 8 38 3.867
7
PMP001 Pemphigus 49 3.772
8
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 3.664
9
c DLT002 Dilated Cardiomyopathy 74 3.578
10
P WLL010 Woolly Hair Syndrome 35 3.488
11
EPD016 Epidermolysis Bullosa 55 3.467
12
P HRT032 Heart Disease 75 3.443
13
DLY008 Delayed Sleep Phase Disorder 37 3.238
14
ALP008 Alopecia 54 3.106
15
DRR010 Darier Disease 59 3.080
16
BLL006 Bullous Pemphigoid 59 3.080
17
P MYC008 Myocarditis 53 3.080
18
HLY001 Hailey-Hailey Disease 53 3.080
19
ERY003 Erythema Multiforme 53 3.080
20
TTH002 Tooth Agenesis 52 3.080
21
P PMP005 Pemphigus Vulgaris 51 3.080
22
FLL013 Follicular Dendritic Cell Sarcoma 39 3.080
23
P PRN022 Perineurioma 36 3.080
24
DLT011 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 19 2.969
25
c KRT017 Keratosis Palmoplantaris Striata Ii 18 2.825
26
ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7 2.723
27
STR096 Striate Palmoplantar Keratoderma 30 2.697
28
P HRD018 Hair Disease 50 2.667
29
NXS001 Naxos Disease 48 2.667
30
PLM029 Palmoplantar Keratosis 42 2.667
31
PRN049 Paraneoplastic Pemphigus 41 2.667
32
PMP009 Pemphigus Erythematosus 31 2.667
33
SDD007 Sudden Cardiac Death 45 2.268
34
P ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 43 2.213
35
c MNN043 Meningioma, Familial 56 2.178
36
c CRD099 Cardiomyopathy, Dilated, 1e 53 2.178
37
LYM008 Lymphangiosarcoma 46 2.178
38
PMP004 Pemphigus Foliaceus 42 2.178
39
CLL001 Cellular Schwannoma 42 2.178
40
ARR026 Arrhythmogenic Right Ventricular Dysplasia 1 41 2.178
41
ARR035 Arrhythmogenic Right Ventricular Dysplasia 9 40 2.178
42
BLL007 Bullous Skin Disease 39 2.178
43
GRV012 Grover's Disease 35 2.178
44
PLX001 Plexiform Schwannoma 35 2.178
45
PLM137 Palmoplantar Keratoderma and Woolly Hair 35 2.178
46
ATM016 Autoimmune Disease of Skin and Connective Tissue 30 2.178
47
EPT006 Epithelioid Neurofibroma 15 2.178
48
SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11 1.842
49
c ART115 Aortic Valve Disease 1 55 1.650
50
c ART101 Aortic Valve Disease 2 54 1.650
51
LFT009 Left Ventricular Outflow Tract Obstruction 42 1.650
52
VNT011 Ventricular Fibrillation, Familial, 1 37 1.650
53
P CRD132 Cardiac Conduction Defect 36 1.650
54
PLM134 Pulmonary Fibrosis, Idiopathic 62 1.585
55
ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 32 1.585
56
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24 1.585
57
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23 1.585
58
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23 1.585
59
ARR011 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 8 6 1.585
60
INT084 Intrinsic Cardiomyopathy 35 1.540
61
P PLN008 Peeling Skin Syndrome 49 0.110
62
ATR060 Atrial Standstill, Digenic 43 0.110
63
P NRV007 Nervous System Disease 70 0.096
64
EXF001 Exfoliation Syndrome 57 0.096
65
ADL002 Adult Syndrome 57 0.096
66
SLP005 Sleep Disorder 54 0.096
67
PRP019 Peripheral Nervous System Disease 53 0.096
68
CSY001 C Syndrome 53 0.096
69
P GNR027 Generalized Peeling Skin Syndrome 22 0.096
70
P ATX030 Ataxia-Telangiectasia 78 0.078
71
P CRB042 Cerebellar Ataxia 69 0.078
72
P LNG028 Long Qt Syndrome 64 0.078
73
c CNT035 Central Nervous System Disease 60 0.078
74
CHL071 Child Syndrome 59 0.078
75
CRD119 Cardiac Arrest 59 0.078
76
P INF032 Infertility 57 0.078
77
KDS001 Kid Syndrome 57 0.078
78
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 53 0.078
79
IMM136 Immune System Disease 53 0.078
80
DSS008 Disease of Mental Health 53 0.078
81
P ATX004 Ataxia 52 0.078
82
TLN003 Telangiectasis 50 0.078
83
c SPN314 Spinocerebellar Ataxia 10 50 0.078
84
PRL032 Perlman Syndrome 50 0.078
85
c SPN312 Spinocerebellar Ataxia 14 49 0.078
86
ATN002 Autonomic Nervous System Disease 48 0.078
87
CRB027 Cerebellar Disease 46 0.078
88
c PLN018 Peeling Skin Syndrome 2 43 0.078
89
c SPN106 Spinocerebellar Ataxia 5 40 0.078
90
c PLN017 Peeling Skin Syndrome 1 38 0.078
91
IMM065 Immunodeficiency 10 36 0.078
92
SPN050 Spinocerebellar Degeneration 35 0.078
93
IMM102 Immunodeficiency 14 34 0.078
94
c PLN021 Peeling Skin Syndrome 3 32 0.078
95
c FML250 Familial Progressive Cardiac Conduction Defect 29 0.078
96
IMM075 Immunodeficiency 22 29 0.078
97
c SPN098 Spinocerebellar Ataxia 25 28 0.078
98
NLL002 Null Syndrome 26 0.078
99
c PLN025 Peeling Skin Syndrome 5 25 0.078
100
SPN187 Spinocerebellar Atrophy 20 0.078
101
IMM123 Immunodeficiency 39 19 0.078
102
P LNG032 Lung Cancer 94 0.055
103
P PRS040 Prostate Cancer 88 0.055
104
P NRB001 Neuroblastoma 71 0.055
105
P AMY004 Amyloidosis 64 0.055
106
P SHR029 Short Syndrome 61 0.055
107
ACQ007 Acquired Immunodeficiency Syndrome 60 0.055
108
MDD011 Mood Disorder 59 0.055
109
P UVT001 Uveitis 57 0.055
110
P NRP001 Neuropathy 57 0.055
111
EYD002 Eye Disease 57 0.055
112
NRM005 Neuromuscular Disease 55 0.055
113
c PND001 Pain Disorder 55 0.055
114
ECT006 Ectodermal Dysplasia 52 0.055
115
P PNV001 Panuveitis 48 0.055
116
c ANT034 Anterior Uveitis 47 0.055
117
P PRK001 Porokeratosis 47 0.055
118
HMN014 Human Immunodeficiency Virus Infectious Disease 45 0.055
119
DRG001 Drug Psychosis 41 0.055
120
RTR008 Root Resorption 41 0.055
121
IRD001 Iridocyclitis 40 0.055
122
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.055
123
c TRC078 Trichohepatoenteric Syndrome 2 34 0.055
124
c PLN024 Peeling Skin Syndrome 4 32 0.055
125
IRS003 Iris Disease 32 0.055
126
P ADV001 Advanced Sleep Phase Syndrome 32 0.055
127
LCH014 Lichen Amyloidosis 30 0.055
128
EYC003 Eye Accommodation Disease 25 0.055
129
c PRK080 Porokeratosis 3, Multiple Types 23 0.055
130
UVL003 Uveal Diseases 20 0.055
131
c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20 0.055
132
c ADV002 Advanced Sleep-Phase Syndrome, Familial, 2 17 0.055
133
c PRK075 Porokeratosis 7, Multiple Types 16 0.055
134
c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 15 0.055
135
c PRK074 Porokeratosis 9, Multiple Types 13 0.055
136
BNJ001 Benjamin Syndrome 11 0.055
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