Search results for dsp

176 hits were found for dsp

# Family MCID Name MIFTS Score
1
c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 45 7.545
2
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 52 7.348
3
SKN024 Skin Fragility-Woolly Hair Syndrome 30 5.951
4
P RRC004 Rare Cardiomyopathy 44 5.196
5
EPD033 Epidermolysis Bullosa, Lethal Acantholytic 41 4.967
6
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 62 4.617
7
c DLT002 Dilated Cardiomyopathy 79 4.299
8
c ATR087 Atrial Standstill 1 75 4.155
9
CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 23 3.793
10
DLY008 Delayed Sleep Phase Disorder 46 3.660
11
P HRT032 Heart Disease 75 3.392
12
P EPD016 Epidermolysis Bullosa 53 3.157
13
P KRT017 Keratosis Palmoplantaris Striata Ii 21 3.081
14
P PMP001 Pemphigus 54 3.078
15
ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 47 2.996
16
P HYP061 Hypertrophic Cardiomyopathy 70 2.654
17
P CRD119 Cardiac Arrest 67 2.562
18
P ALP008 Alopecia 54 2.478
19
c LNG044 Long Qt Syndrome 1 66 2.458
20
P MYC008 Myocarditis 59 2.412
21
P THY023 Thymoma 65 2.384
22
BLL006 Bullous Pemphigoid 62 2.384
23
TTH002 Tooth Agenesis 60 2.384
24
ERY003 Erythema Multiforme 58 2.384
25
NXS001 Naxos Disease 53 2.384
26
FLL013 Follicular Dendritic Cell Sarcoma 43 2.384
27
PRN022 Perineurioma 37 2.384
28
P LNG028 Long Qt Syndrome 66 2.185
29
P RST002 Restrictive Cardiomyopathy 56 2.092
30
P BRG001 Brugada Syndrome 71 2.073
31
PLM029 Palmoplantar Keratosis 47 2.073
32
c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 45 2.073
33
PLM134 Pulmonary Fibrosis, Idiopathic 77 2.053
34
c ART115 Aortic Valve Disease 1 75 2.031
35
P ECT006 Ectodermal Dysplasia 62 2.007
36
P EPD003 Epidermolysis Bullosa Simplex 58 2.007
37
c PRG126 Progressive Familial Heart Block 55 2.007
38
P LFT003 Left Ventricular Noncompaction 54 2.007
39
STR096 Striate Palmoplantar Keratoderma 29 2.007
40
ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 8 2.007
41
KRT009 Keratosis 51 1.979
42
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63 1.947
43
SKN016 Skin Disease 63 1.947
44
DRR014 Darier-White Disease 60 1.947
45
c BNG091 Benign Chronic Pemphigus 58 1.947
46
PMP006 Pemphigus Vulgaris, Familial 57 1.947
47
CST005 Castleman Disease 57 1.947
48
EPD002 Epidermolytic Hyperkeratosis 56 1.947
49
P CRN025 Corneal Dystrophy 49 1.947
50
P HRD018 Hair Disease 43 1.947
51
PRN049 Paraneoplastic Pemphigus 42 1.947
52
PMP009 Pemphigus Erythematosus 30 1.947
53
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 63 1.709
54
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 1.598
55
c CRD099 Cardiomyopathy, Dilated, 1e 51 1.582
56
CRD132 Cardiac Conduction Defect 58 1.503
57
P FML361 Familial Woolly Hair Syndrome 46 1.479
58
ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 39 1.479
59
HMP005 Hemiplegia 55 1.452
60
SBV001 Subvalvular Aortic Stenosis 33 1.452
61
c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 23 1.419
62
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 22 1.419
63
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 22 1.419
64
c PCH015 Pachyonychia Congenita 1 59 1.377
65
CLL003 Cellulitis 54 1.377
66
PLM136 Palmoplantar Keratoderma, Nonepidermolytic 53 1.377
67
LFT001 Left Bundle Branch Hemiblock 49 1.377
68
c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 46 1.377
69
c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 45 1.377
70
CRD003 Cardiac Sarcoidosis 44 1.377
71
c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 44 1.377
72
SBC012 Subcorneal Pustular Dermatosis 43 1.377
73
EPT021 Epithelial Recurrent Erosion Dystrophy 42 1.377
74
EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 42 1.377
75
c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 41 1.377
76
P BLL007 Bullous Skin Disease 41 1.377
77
VSC012 Vesiculobullous Skin Disease 38 1.377
78
c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 34 1.377
79
PLM137 Palmoplantar Keratoderma and Woolly Hair 34 1.377
80
c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 34 1.377
81
c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 33 1.377
82
DFF038 Diffuse Palmoplantar Keratoderma 31 1.377
83
GRV012 Grover's Disease 30 1.377
84
PLX001 Plexiform Schwannoma 29 1.377
85
INT084 Intrinsic Cardiomyopathy 28 1.377
86
MCR001 Microcystic Meningioma 27 1.377
87
ATM016 Autoimmune Disease of Skin and Connective Tissue 26 1.377
88
PSD004 Pseudomembranous Conjunctivitis 26 1.377
89
MNN004 Meningothelial Meningioma 25 1.377
90
EPT006 Epithelioid Neurofibroma 20 1.377
91
EPT023 Epithelial and Subepithelial Dystrophy 15 1.377
92
c CRD233 Cardiomyopathy, Dilated, 1b 45 0.217
93
P SLP005 Sleep Disorder 59 0.115
94
WLF001 Wolff-Parkinson-White Syndrome 66 0.103
95
c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 41 0.103
96
P AMY004 Amyloidosis 70 0.089
97
P NRV007 Nervous System Disease 66 0.089
98
P PLM036 Pulmonary Fibrosis 65 0.089
99
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.089
100
P ATX030 Ataxia-Telangiectasia 82 0.072
101
P RHM011 Rheumatoid Arthritis 80 0.072
102
OST012 Osteoarthritis 78 0.072
103
P ART022 Arthritis 69 0.072
104
c MGR028 Migraine with or Without Aura 1 67 0.072
105
GT001 Gout 64 0.072
106
ALV005 Alveolar Soft Part Sarcoma 61 0.072
107
CNS004 Constipation 58 0.072
108
NRT001 Neurotic Disorder 53 0.072
109
TLN003 Telangiectasis 52 0.072
110
SYS003 Systolic Heart Failure 49 0.072
111
OST062 Osteoarthritis with Mild Chondrodysplasia 47 0.072
112
SYN036 Syncope 45 0.072
113
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.072
114
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.072
115
P HYP087 Hypotrichosis 42 0.072
116
P ADV001 Advanced Sleep Phase Syndrome 40 0.072
117
P PRX010 Paroxysmal Ventricular Fibrillation 25 0.072
118
P LNG032 Lung Cancer 98 0.051
119
P PRS040 Prostate Cancer 97 0.051
120
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 0.051
121
P PRK057 Parkinson Disease, Late-Onset 78 0.051
122
P SCH015 Schizophrenia 74 0.051
123
P NRB001 Neuroblastoma 72 0.051
124
HMN044 Human Immunodeficiency Virus Type 1 71 0.051
125
ADL002 Adult Syndrome 70 0.051
126
P MJR001 Major Depressive Disorder 68 0.051
127
P CNJ013 Conjunctivitis 65 0.051
128
KRT019 Keratitis, Hereditary 65 0.051
129
P HRP006 Herpes Simplex 65 0.051
130
c DBT099 Diabetes Mellitus, Type I 65 0.051
131
P DBT009 Diabetes Mellitus 64 0.051
132
P CRN300 Coronary Heart Disease 1 63 0.051
133
DPR016 Depression 63 0.051
134
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 0.051
135
P PSR002 Psoriasis 62 0.051
136
P VNT002 Ventricular Septal Defect 60 0.051
137
ACQ007 Acquired Immunodeficiency Syndrome 60 0.051
138
ORL011 Oral Cancer 60 0.051
139
c HPT016 Hepatitis B 59 0.051
140
P DNG005 Dengue Virus 59 0.051
141
PST028 Post-Traumatic Stress Disorder 58 0.051
142
MNT002 Mental Depression 58 0.051
143
P PRP019 Peripheral Nervous System Disease 58 0.051
144
P UVT001 Uveitis 57 0.051
145
P SLV026 Salivary Gland Carcinoma 57 0.051
146
P NRP001 Neuropathy 56 0.051
147
P PLY019 Polyneuropathy 56 0.051
148
P SCK002 Sick Sinus Syndrome 55 0.051
149
P DRR001 Diarrhea 55 0.051
150
P PRK001 Porokeratosis 55 0.051
151
END040 Endogenous Depression 55 0.051
152
AMN003 Amnestic Disorder 54 0.051
153
P ICH004 Ichthyosis 54 0.051
154
HRT012 Heart Valve Disease 53 0.051
155
IRD001 Iridocyclitis 53 0.051
156
PST011 Pustulosis of Palm and Sole 52 0.051
157
PRN009 Paranoid Schizophrenia 50 0.051
158
HRT011 Heart Septal Defect 50 0.051
159
c PSR021 Psoriasis 14, Pustular 50 0.051
160
ATS010 Autosomal Recessive Disease 48 0.051
161
HYP016 Hypochondriasis 47 0.051
162
ACT084 Acute Stress Disorder 47 0.051
163
RTR008 Root Resorption 45 0.051
164
c ERL020 Early-Onset Schizophrenia 44 0.051
165
c PRM038 Primary Agammaglobulinemia 44 0.051
166
DPR002 Depersonalization Disorder 43 0.051
167
49X006 49, Xxxxy Syndrome 41 0.051
168
48X005 48,xyyy 39 0.051
169
HPT070 Hepatosplenic T-Cell Lymphoma 38 0.051
170
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 37 0.051
171
P PST059 Pustular Psoriasis 37 0.051
172
c PRK080 Porokeratosis 3, Multiple Types 32 0.051
173
LCH014 Lichen Amyloidosis 31 0.051
174
c PRK075 Porokeratosis 7, Multiple Types 27 0.051
175
ERL052 Early Repolarization Associated with Ventricular Fibrillation 22 0.051
176
c PRK074 Porokeratosis 9, Multiple Types 20 0.051
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