Search results for "T"

4978 hits were found for 'T'

# Family MCID Name MIFTS Score
1
NRL016 Neural Tube Defects 78 7.314
2
c ACT020 Acute T Cell Leukemia 28 4.721
3
c ADL017 Adult T-Cell Leukemia 40 4.542
4
TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 18 4.280
5
CHR072 Chordoma 54 4.220
6
BLS007 Blastic Plasmacytoid Dendritic Cell 45 4.053
7
GMM002 Gamma Chain Deficiency 33 4.053
8
P CTN015 Cutaneous T Cell Lymphoma 45 4.047
9
TLY001 T Lymphocyte Deficiency 20 3.857
10
c PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 40 3.847
11
P TCL004 T-Cell Leukemia 43 3.799
12
ENT008 Enteropathy-Associated T-Cell Lymphoma 31 3.725
13
SCR035 Sacral Agenesis with Vertebral Anomalies 8 3.651
14
EXT048 Extranodal Nasal Nk/t Cell Lymphoma 20 3.585
15
ANG046 Angioimmunoblastic T-Cell Lymphoma 34 3.578
16
PRP036 Peripheral T-Cell Lymphoma 42 3.450
17
c LKM005 Leukemia, T-Cell, Chronic 15 3.337
18
SVR029 Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive 27 3.311
19
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 8 3.305
20
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 33 3.191
21
c ATM010 Autoimmune Hemolytic Anemia 57 3.047
22
GNT003 Genital Herpes 57 3.038
23
ECT032 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 17 3.019
24
SCD002 Scid, Autosomal Recessive, T-Negative/b-Positive Type 15 3.016
25
SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 7 3.013
26
PRC011 Parachordoma 30 2.973
27
TCL003 T Cell Deficiency 37 2.874
28
LRG008 Large Granular Lymphocyte Leukemia 35 2.863
29
TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 20 2.771
30
SVR016 Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive 15 2.732
31
EMN001 Emanuel Syndrome 36 2.723
32
c IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 16 2.718
33
c HMN021 Human T-Cell Leukemia Virus Type 1 37 2.716
34
TCL014 T-Cell Immunodeficiency, Recurrent Infections, Autoimmunity, and Cardiac Malformations 17 2.707
35
PSL001 Pasli Disease 30 2.703
36
CMB058 Combined Immunodeficiency T+ B+ Due to Partial Rag1 Deficiency 14 2.703
37
TCL001 T-Cell Adult Acute Lymphocytic Leukemia 6 2.696
38
TCL006 T Cell Immunodeficiency Primary 4 2.696
39
P LNG028 Long Qt Syndrome 62 2.604
40
HPT070 Hepatosplenic T-Cell Lymphoma 22 2.480
41
TCL002 T-Cell Large Granular Lymphocyte Leukemia 36 2.465
42
c HMN022 Human T-Cell Leukemia Virus Type 2 36 2.429
43
PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13 2.357
44
c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 11 2.354
45
c TCL008 T-Cell Lymphoma 1a 10 2.351
46
SLC008 Selective T-Cell Defect 15 2.348
47
c HMN023 Human T-Cell Leukemia Virus Type 3 6 2.348
48
PDT026 Pediatric T-Cell Leukemia 3 2.345
49
TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7 2.337
50
TBS008 T-B+ Severe Combined Immunodeficiency Due to Jak3 Deficiency 7 2.337
51
TCR005 Tcr-Alpha-Beta-Positive T-Cell Deficiency 5 2.337
52
TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 14 2.333
53
TBS004 T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency 7 2.333
54
TBS006 T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency 7 2.333
55
CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 4 2.333
56
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 28 2.328
57
TRP002 Tropical Spastic Paraparesis 46 2.133
58
CRV062 Cervical Spina Bifida Cystica 22 2.103
59
CRV063 Cervical Spina Bifida Aperta 22 2.103
60
LMB056 Lumbosacral Spina Bifida Cystica 22 2.103
61
CRV061 Cervicothoracic Spina Bifida Cystica 21 2.103
62
CRV064 Cervicothoracic Spina Bifida Aperta 21 2.103
63
LMB057 Lumbosacral Spina Bifida Aperta 21 2.103
64
THR084 Thoracolumbosacral Spina Bifida Cystica 21 2.103
65
THR085 Thoracolumbosacral Spina Bifida Aperta 21 2.103
66
TTL008 Total Spina Bifida Cystica 21 2.103
67
c TTL009 Total Spina Bifida Aperta 21 2.103
68
UPP007 Upper Thoracic Spina Bifida Cystica 21 2.103
69
UPP008 Upper Thoracic Spina Bifida Aperta 21 2.103
70
SCR038 Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 5 2.103
71
P ATX030 Ataxia-Telangiectasia 76 2.021
72
LYM052 Lymphomatoid Papulosis 43 2.021
73
ADN001 Adenosine Deaminase Deficiency 52 1.991
74
CMB003 Combined T Cell and B Cell Immunodeficiency 17 1.948
75
TBR006 Tuberculoid Leprosy 32 1.938
76
PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 12 1.930
77
PRM159 Primary Cutaneous Unspecified Peripheral T-Cell Lymphoma 7 1.920
78
c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7 1.920
79
LKM065 Leukemia, Acute Promyelocytic 47 1.916
80
c ACT203 'acute Myeloid Leukemia with T(9;11)(p22;q23)' 17 1.916
81
IMM065 Immunodeficiency 10 13 1.916
82
IMM066 Immunodeficiency 9 12 1.916
83
c ACT208 'acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation' 27 1.912
84
P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 17 1.912
85
IMM015 Immune Defect Due to Absence of Thymus 17 1.912
86
NZL001 Nezelof Syndrome 16 1.912
87
INF127 Infective Dermatitis Associated with Htlv-1 16 1.912
88
c ACT205 'acute Myeloid Leukemia with T(6;9)(p23;q34)' 11 1.912
89
SVR022 Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related 6 1.912
90
SVR036 Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Il7r-Related 6 1.912
91
SVR037 Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, Jak3-Related 6 1.912
92
SVR038 Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Cd3d-Related 6 1.912
93
SVR039 Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Cd3e-Related 6 1.912
94
ALP030 Alopecia and T-Cell Immunodeficiency 4 1.912
95
BND002 B- and T-Cell Mixed Leukemia 4 1.912
96
ACT207 'acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)' 27 1.907
97
MGK006 'megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13)' 9 1.907
98
ACT204 'acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2)' 7 1.907
99
TBS007 T+b+ Severe Combined Deficiency of Adaptive Immunity Due to Mutation in the Ctps1 Gene 4 1.907
100
PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 3 1.907
101
SVR004 Severe Combined Immunodeficiency 68 1.534
102
c MLG054 Malignant Histiocytosis 55 1.431
103
HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 18 1.399
104
SVR033 Severe Combined Immunodeficiency, B Cell-Negative 28 1.392
105
SVR006 Severe Combined Immunodeficiency Due to Ada Deficiency 26 1.387
106
c LKM062 Leukemia, Acute Lymphoblastic 58 1.384
107
SVR031 Severe Combined Immunodeficiency, Athabascan Type 25 1.367
108
CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 20 1.362
109
RFR007 Refractory Anemia with Excess Blasts in Transformation 15 1.362
110
ZP7001 Zap70-Related Severe Combined Immunodeficiency 12 1.358
111
NSY001 N Syndrome 30 1.352
112
P PPL026 Papular Mucinosis 23 1.352
113
LYM044 Lymphocytic Infiltrate of Jessner 17 1.352
114
IMM067 Immunodeficiency 7, Tcr-Alpha/beta Deficient 13 1.352
115
TNG001 Tungiasis 24 1.344
116
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 5 1.344
117
P LKM002 Leukemia 66 0.597
118
P LYM026 Lymphoblastic Leukemia 55 0.231
119
HV1006 Hiv-1 83 0.210
120
P HPT021 Hepatitis 55 0.204
121
P ART022 Arthritis 65 0.202
122
P BRS047 Breast Cancer 90 0.192
123
MLN008 Melanoma 55 0.182
124
P RHM011 Rheumatoid Arthritis 94 0.172
125
P MYL006 Myeloid Leukemia 64 0.170
126
END072 Endotheliitis 44 0.167
127
P LPS004 Lupus Erythematosus 67 0.156
128
c FML108 Familial Breast Cancer 29 0.151
129
c HRD117 Hereditary Breast Cancer 51 0.151
130
P HRD004 Hereditary Breast Ovarian Cancer 48 0.149
131
c SYS001 Systemic Lupus Erythematosus 91 0.148
132
LYM040 Lymphoblastic Lymphoma 49 0.148
133
P AST005 Asthma 84 0.145
134
TBR010 Tuberculosis 73 0.145
135
P BCL006 B-Cell Lymphomas 47 0.142
136
DRM006 Dermatitis 58 0.133
137
SPS057 Spasticity 32 0.133
138
P THY032 Thyroiditis 56 0.132
139
SPS019 Spastic Paraparesis 35 0.131
140
P LYN001 Lynch Syndrome 66 0.128
141
PRL017 Prolymphocytic Leukemia 36 0.128
142
c BRS071 Breast-Ovarian Cancer, Familial, 1 32 0.122
143
c HPT001 Hepatitis C 57 0.121
144
c HPT016 Hepatitis B 60 0.120
145
LYM027 Lymphopenia 43 0.119
146
PNN001 Panniculitis 38 0.117
147
MYC006 Mycosis Fungoides 62 0.112
148
LYM009 Lymphocytic Choriomeningitis 54 0.109
149
P CHR090 Chronic Lymphocytic Leukemia 74 0.109
150
c BRS072 Breast-Ovarian Cancer, Familial, 2 20 0.108
151
BRC055 Brca2 Hereditary Breast and Ovarian Cancer 31 0.107
152
P MYL007 Myeloma 53 0.106
153
P PSR002 Psoriasis 54 0.104
154
PRS047 Prostatitis 51 0.104
155
P ATP001 Atopic Dermatitis 56 0.102
156
SRC014 Sarcoma 61 0.101
157
HDG012 Hodgkin Lymphoma 79 0.101
158
P MYC007 Myocardial Infarction 81 0.100
159
c HPT073 Hepatitis C Virus 51 0.100
160
HMT018 Hematopoietic Stem Cell Transplantation 36 0.099
161
P ALP004 Alport Syndrome 60 0.096
162
CLT003 Colitis 54 0.094
163
c ACT073 Acute Leukemia 48 0.093
164
P RNL014 Renal Cell Carcinoma 83 0.093
165
P CLR023 Colorectal Cancer 96 0.092
166
P ANP001 Anaplastic Large Cell Lymphoma 53 0.092
167
c EHL057 Ehlers-Danlos Syndrome, Type Iv 48 0.092
168
CYS001 Cystic Fibrosis 92 0.090
169
P ACT135 Acute Graft Versus Host Disease 44 0.090
170
P RTN008 Retinitis Pigmentosa 72 0.087
171
c MLT019 Multiple Myeloma 75 0.086
172
P INF038 Influenza 67 0.086
173
FLL037 Follicular Lymphoma 50 0.086
174
HPT023 Hepatocellular Carcinoma 95 0.085
175
MLR004 Malaria 81 0.085
176
P ESN007 Eosinophilia 54 0.085
177
P LPR003 Leprosy 71 0.083
178
ALL014 Allergic Encephalomyelitis 35 0.083
179
MYL009 Myelodysplastic Syndrome 67 0.082
180
P ADN016 Adenocarcinoma 49 0.082
181
CMM004 Common Variable Immunodeficiency 67 0.082
182
P PNC044 Pancreatitis 59 0.082
183
P MYC008 Myocarditis 50 0.081
184
c ATM003 Autoimmune Thyroiditis 58 0.081
185
DFF005 Diffuse Large B-Cell Lymphoma 50 0.080
186
P PRS040 Prostate Cancer 84 0.080
187
P HRP006 Herpes Simplex 63 0.080
188
c HMP029 Hemophilia a 66 0.079
189
LSH001 Leishmaniasis 63 0.079
190
CRB009 Cerebritis 33 0.079
191
ATH003 Atherosclerosis 56 0.078
192
ALL006 Allergic Asthma 46 0.078
193
P OBS005 Obesity 94 0.078
194
P LNG032 Lung Cancer 94 0.076
195
P UVT001 Uveitis 57 0.076
196
ART111 Artery Disease 55 0.076
197
GRV001 Graves' Disease 54 0.076
198
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 28 0.076
199
CRH001 Crohn's Disease 71 0.075
200
P CRV039 Cervicitis 49 0.075
201
P CRN211 Coronary Artery Disease 73 0.074
202
GLC006 Galactosemia 75 0.074
203
P HYP061 Hypertrophic Cardiomyopathy 59 0.074
204
P BRG001 Brugada Syndrome 56 0.074
205
P PNM007 Pneumonia 64 0.073
206
P RTN024 Retinoblastoma 75 0.072
207
P APL001 Aplastic Anemia 76 0.072
208
c CHR417 Chronic Graft Versus Host Disease 37 0.072
209
NRN002 Neuronitis 36 0.072
210
RTN023 Retinitis 44 0.071
211
c ACT075 Acute Myocardial Infarction 57 0.071
212
VCC001 Vaccinia 41 0.071
213
P ESP024 Esophagitis 54 0.070
214
P WSK001 Wiskott-Aldrich Syndrome 69 0.069
215
P INF037 Inflammatory Bowel Disease 39 0.068
216
P USH001 Usher Syndrome 55 0.067
217
MLT022 Malt Lymphoma 54 0.067
218
P HMP002 Hemophagocytic Lymphohistiocytosis 54 0.067
219
PLM001 Pulmonary Tuberculosis 60 0.067
220
P CLC005 Celiac Disease 69 0.066
221
P PRD008 Periodontitis 59 0.066
222
P PRM006 Primary Biliary Cirrhosis 56 0.066
223
PRP030 Purpura 54 0.066
224
c BRG005 Brugada Syndrome 1 28 0.066
225
VSC011 Vasculitis 57 0.065
226
P ENC004 Encephalitis 56 0.065
227
P ATX004 Ataxia 50 0.065
228
P MTR004 Maturity-Onset Diabetes of the Young 54 0.064
229
CYT008 Cytomegalovirus Infection 39 0.064
230
ULC004 Ulcerative Colitis 63 0.062
231
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 47 0.062
232
P THY023 Thymoma 57 0.062
233
P DLT002 Dilated Cardiomyopathy 77 0.061
234
MRF001 Marfan Syndrome 75 0.061
235
DCH001 Duchenne Muscular Dystrophy 78 0.061
236
P HST010 Histiocytosis 55 0.061
237
PMP001 Pemphigus 51 0.061
238
P WLM002 Wilms Tumor 70 0.060
239
PRT036 Peritonitis 61 0.060
240
TXC005 Toxic Shock Syndrome 51 0.060
241
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.060
242
c ATM022 Autoimmune Myocarditis 32 0.060
243
P MNC007 Monocytic Leukemia 49 0.059
244
PRR002 Pure Red-Cell Aplasia 46 0.059
245
LPR001 Lepromatous Leprosy 42 0.059
246
P MYS005 Myositis 63 0.058
247
BRK010 Burkitt Lymphoma 63 0.058
248
P GLM007 Glomerulonephritis 59 0.058
249
PLM012 Pulmonary Sarcoidosis 45 0.058
250
c USH033 Usher Syndrome, Type 3a 43 0.058
251
KRT004 Keratitis 60 0.057
252
P RHN004 Rhinitis 54 0.057
253
RHB003 Rhabdomyosarcoma 49 0.057
254
P PNC035 Pancreatic Cancer 82 0.057
255
P MYS003 Myasthenia Gravis 64 0.057
256
c ATM011 Autoimmune Hepatitis 51 0.057
257
NPH051 Nephritis 46 0.057
258
P DYS007 Dyskeratosis Congenita 60 0.056
259
MNT001 Mantle Cell Lymphoma 55 0.056
260
HYP266 Hypoxia 49 0.056
261
THR013 Thoracic Outlet Syndrome 45 0.056
262
RLP002 Relapsing-Remitting Multiple Sclerosis 39 0.056
263
P THL005 Thalassemia 64 0.055
264
P MNN013 Meningitis 58 0.055
265
P HYP098 Hypereosinophilic Syndrome 55 0.055
266
ALL003 Allergic Rhinitis 63 0.054
267
P HML002 Hemolytic Anemia 56 0.054
268
DPH001 Diphtheria 47 0.054
269
P TRC086 Trichohepatoenteric Syndrome 1 39 0.054
270
P SCH015 Schizophrenia 79 0.054
271
c CHR285 Chronic Myelomonocytic Leukemia 48 0.054
272
P OST005 Osteogenesis Imperfecta 77 0.053
273
c HMP004 Hemophilia B 72 0.053
274
BTN003 Biotinidase Deficiency 56 0.053
275
ISC004 Ischemia 53 0.053
276
c MCR208 Microcephaly, Primary Autosomal Recessive 34 0.053
277
CNG116 Congenital Nephrotic Syndrome Finnish Type 27 0.053
278
c NPH055 Nephrotic Syndrome, Type 1 22 0.053
279
SKN016 Skin Disease 64 0.052
280
P GLB002 Glioblastoma 59 0.052
281
CHG001 Chagas Disease 54 0.052
282
P ACT117 Acute Myelomonocytic Leukemia 54 0.052
283
CTN007 Cutaneous Leishmaniasis 57 0.052
284
P GLY010 Glycine Encephalopathy 47 0.052
285
PRG009 Progressive Multifocal Leukoencephalopathy 45 0.052
286
P NRB001 Neuroblastoma 68 0.051
287
MSL001 Measles 58 0.051
288
P CND004 Candidiasis 54 0.051
289
PRT037 Pertussis 54 0.051
290
P CNG001 Congenital Myasthenic Syndrome 53 0.051
291
ALP008 Alopecia 51 0.051
292
LYM019 Lymphosarcoma 50 0.051
293
c ACT009 Acute Monocytic Leukemia 50 0.051
294
IPX001 Ipex Syndrome 32 0.051
295
c AMY091 Amyotrophic Lateral Sclerosis 1 82 0.050
296
P END044 Endometriosis 59 0.050
297
LCH002 Lichen Planus 52 0.050
298
PLY041 Polymyositis 51 0.050
299
VSC003 Visceral Leishmaniasis 50 0.050
300
STR072 Stromal Keratitis 37 0.050
301
P NRF002 Neurofibromatosis 69 0.050
302
c FML058 Familial Dilated Cardiomyopathy 59 0.050
303
BRN002 Bronchiolitis 52 0.050
304
PHN003 Phenylketonuria 73 0.049
305
INC002 Inclusion Body Myositis 71 0.049
306
P HYP004 Hypercalcemia 57 0.049
307
P NTR004 Neutropenia 56 0.049
308
TTN003 Tetanus 54 0.049
309
P NRP001 Neuropathy 52 0.049
310
LST001 Listeriosis 49 0.049
311
SPN051 Spondylitis 48 0.049
312
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 43 0.049
313
NRT004 Neuritis 40 0.049
314
CHR276 Chronic Active Epstein-Barr Virus Infection 37 0.049
315
ANR040 Aneurysm 35 0.049
316
DFN003 Deafness and Hereditary Hearing Loss 25 0.049
317
CHR063 Chronic Mucocutaneous Candidiasis 63 0.048
318
P THR014 Thrombocytopenia 56 0.048
319
ATP002 Atopy 55 0.048
320
P MST018 Mesothelioma 51 0.048
321
P PMP005 Pemphigus Vulgaris 47 0.048
322
ACQ007 Acquired Immunodeficiency Syndrome 46 0.048
323
CNR007 Cone-Rod Dystrophy 6 43 0.048
324
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 28 0.048
325
OMN001 Omenn Syndrome 58 0.047
326
RCT015 Reactive Arthritis 50 0.047
327
STM007 Stomatitis 43 0.047
328
BRN018 Borna Disease 42 0.047
329
NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 26 0.047
330
P GST044 Gastritis 56 0.046
331
P ALP009 Alopecia Areata 56 0.046
332
P ACR001 Aicardi-Goutieres Syndrome 54 0.046
333
CNN005 Connective Tissue Disease 50 0.046
334
DDN006 Duodenitis 48 0.046
335
CNT047 Contact Dermatitis 46 0.046
336
ORC001 Orchitis 43 0.046
337
P KBK002 Kabuki Syndrome 1 42 0.046
338
c RTN164 Retinitis Pigmentosa Autosomal Recessive 34 0.046
339
P MYL005 Myelofibrosis 68 0.045
340
CRB011 Cerebrotendinous Xanthomatosis 66 0.045
341
PRC002 Paracoccidioidomycosis 56 0.045
342
P MCK022 Meckel Syndrome 1 52 0.045
343
DWN001 Down Syndrome 51 0.045
344
P INF032 Infertility 46 0.045
345
NSP002 Nasopharyngitis 40 0.045
346
P NNN008 Noonan Syndrome 1 66 0.044
347
P ATM006 Autoimmune Lymphoproliferative Syndrome 66 0.044
348
KWS002 Kawasaki Disease 66 0.044
349
P DRM010 Dermatomyositis 62 0.044
350
P HRM001 Hermansky-Pudlak Syndrome 60 0.044
351
WLK001 Walker-Warburg Syndrome 59 0.044
352
GNG013 Gingivitis 52 0.044
353
P DGR001 Digeorge Syndrome 49 0.044
354
HYP458 Hyper Ige Syndrome 47 0.044
355
SCH016 Schimke Immunoosseous Dysplasia 46 0.044
356
PLR008 Pleurisy 41 0.044
357
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 40 0.044
358
MDS022 Mediastinitis 39 0.044
359
NNS034 Non-Syndromic Congenital Cataract 22 0.044
360
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 20 0.044
361
ESP021 Esophageal Cancer 67 0.043
362
P PLY019 Polyneuropathy 52 0.043
363
MRG003 Marginal Zone B-Cell Lymphoma 51 0.043
364
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 45 0.043
365
PRP005 Parapsoriasis 28 0.043
366
P HYD015 Hydroa Vacciniforme 21 0.043
367
c BNG076 Benign Exophthalmos Syndrome 19 0.043
368
ASP006 Aspergillosis 63 0.042
369
P HMP007 Hemophilia 59 0.042
370
STR008 Strongyloidiasis 58 0.042
371
P CNJ013 Conjunctivitis 53 0.042
372
P HMR012 Hemorrhagic Fever 52 0.042
373
CYT005 Cytomegalovirus Retinitis 48 0.042
374
P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 41 0.042
375
MDY003 Mody, Type Ii 41 0.042
376
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 39 0.042
377
HTL002 Htlv-1 Associated Myelopathy 36 0.042
378
PTY004 Pityriasis Lichenoides 33 0.042
379
P PLY011 Polycystic Ovary Syndrome 59 0.041
380
P LPS002 Liposarcoma 56 0.041
381
CNG008 Congenital Ichthyosiform Erythroderma 55 0.041
382
P NPH005 Nephronophthisis 54 0.041
383
BRN012 Bronchiolitis Obliterans 50 0.041
384
P MNT147 Mental Retardation 46 0.041
385
ALL010 Allergic Contact Dermatitis 46 0.041
386
ORL013 Oral Lichen Planus 35 0.041
387
ATY013 Atypical Rett Syndrome 34 0.041
388
LTH001 Lethal Midline Granuloma 21 0.041
389
c FNC027 Fanconi Anemia, Complementation Group a 68 0.040
390
CHR012 Chronic Granulomatous Disease 64 0.040
391
P LBR001 Leber Congenital Amaurosis 58 0.040
392
ART021 Arteriosclerosis 58 0.040
393
P CHN012 Chondrosarcoma 56 0.040
394
VGT001 Vogt-Koyanagi-Harada Disease 53 0.040
395
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 51 0.040
396
MRK001 Merkel Cell Carcinoma 48 0.040
397
PRD007 Periodontal Disease 47 0.040
398
P MLT028 Multiminicore Disease 34 0.040
399
P ATX010 Ataxia Neuropathy Spectrum 29 0.040
400
ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 20 0.040
401
FBR012 Fabry Disease 76 0.039
402
AND015 Androgen Insensitivity 69 0.039
403
c LKM061 Leukemia, Acute Myeloid 69 0.039
404
P NPH012 Nephrotic Syndrome 60 0.039
405
LYS003 Lysinuric Protein Intolerance 60 0.039
406
P PLM036 Pulmonary Fibrosis 64 0.039
407
P DRM007 Dermatitis Herpetiformis 56 0.039
408
CHL014 Cholera 56 0.039
409
ADN018 Adenoma 55 0.039
410
ACN002 Acanthosis Nigricans 55 0.039
411
SCB001 Scabies 50 0.039
412
YLL002 Yellow Fever 50 0.039
413
SLD003 Sialadenitis 50 0.039
414
c NNN013 Noonan Syndrome 6 49 0.039
415
EPD001 Epidermodysplasia Verruciformis 49 0.039
416
HMG002 Hemoglobinuria 43 0.039
417
P BNG026 Benign Neonatal Seizures 43 0.039
418
FDL002 Food Allergy 41 0.039
419
CMP001 Composite Lymphoma 33 0.039
420
c PSD047 Pseudo-Turner Syndrome 31 0.039
421
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 25 0.039
422
ADN021 Adenomatous Polyposis Coli 75 0.038
423
P RTT002 Rett Syndrome 73 0.038
424
P OST012 Osteoarthritis 80 0.038
425
ACR007 Acromegaly 69 0.038
426
P KLL001 Kallmann Syndrome 60 0.038
427
BLL006 Bullous Pemphigoid 60 0.038
428
MGL001 Megaloblastic Anemia 56 0.038
429
P AND016 Andersen Syndrome 54 0.038
430
P AGM001 Agammaglobulinemia 59 0.038
431
P NRM001 Neuromyelitis Optica 52 0.038
432
c MCP026 Mucopolysaccharidosis Type Iiib 50 0.038
433
SLP001 Sleeping Sickness 49 0.038
434
TNS005 Tonsillitis 48 0.038
435
P BLN003 Blindness 47 0.038
436
RHM027 Rheumatic Disease 42 0.038
437
RFR010 Refractory Anemia 42 0.038
438
PLS016 Plasma Cell Leukemia 42 0.038
439
CHN016 Cohen Syndrome 40 0.038
440
WST005 West Nile Virus 40 0.038
441
P DMY001 Demyelinating Polyneuropathy 39 0.038
442
c MCL062 Mucolipidosis Ii Alpha/beta 39 0.038
443
P PTT050 Pituitary Adenoma, Growth Hormone-Secreting 37 0.038
444
c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 36 0.038
445
c SPS092 Spastic Paraplegia 11 31 0.038
446
SPG001 Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 4 0.038
447
P PHC003 Pheochromocytoma 79 0.037
448
P LVR013 Liver Disease 62 0.037
449
DMN002 Dementia 58 0.037
450
P TXP001 Toxoplasmosis 56 0.037
451
P LRY019 Laryngitis 56 0.037
452
P MSC005 Muscular Dystrophy 54 0.037
453
c JBR020 Joubert Syndrome 1 54 0.037
454
c SVR001 Severe Acute Respiratory Syndrome 50 0.037
455
P PSR001 Psoriatic Arthritis 50 0.037
456
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.037
457
GLC037 Glucocorticoid Resistance 48 0.037
458
LPS007 Lupus Nephritis 44 0.037
459
NSP012 Nasopharyngeal Carcinoma 44 0.037
460
BRN106 Burns 42 0.037
461
c PSD092 Pseudohypoaldosteronism, Type Iie 42 0.037
462
P PNC001 Pancytopenia 41 0.037
463
MYX005 Myxoid Liposarcoma 40 0.037
464
LYM067 Lymphoid Leukemia 37 0.037
465
c SZR008 Seizures, Benign Neonatal, 1 28 0.037
466
c DFN133 Deafness, Autosomal Recessive 9 19 0.037
467
P GCH001 Gaucher's Disease 70 0.036
468
P SCL016 Scleroderma 76 0.036
469
P ANG001 Angelman Syndrome 66 0.036
470
LVR012 Liver Cirrhosis 66 0.036
471
P HLP001 Holoprosencephaly 65 0.036
472
P AMY004 Amyloidosis 63 0.036
473
CNT098 Central Core Disease 62 0.036
474
c MLG068 Malignant Glioma 58 0.036
475
MXD005 Mixed Connective Tissue Disease 56 0.036
476
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 53 0.036
477
SYN007 Synovitis 51 0.036
478
c PST005 Posterior Uveitis 50 0.036
479
ALC006 Alcoholic Hepatitis 58 0.036
480
P SNS014 Sinusitis 56 0.036
481
PRM042 Primary Effusion Lymphoma 46 0.036
482
c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 46 0.036
483
P CHL066 Cholangitis 45 0.036
484
GST027 Gastric Lymphoma 42 0.036
485
P SJG001 Sjogren's Syndrome 42 0.036
486
ALL009 Allergic Conjunctivitis 40 0.036
487
FLL019 Follicular Mucinosis 33 0.036
488
BRC016 Brca1 and Brca2 Hereditary Breast and Ovarian Cancer 30 0.036
489
YNG005 Young Adult-Onset Parkinsonism 27 0.036
490
DMD003 Dmd-Associated Dilated Cardiomyopathy 17 0.036
491
c OTF001 Otof-Related Deafness 12 0.036
492
P PRM002 Primary Hyperoxaluria 68 0.034
493
CHD001 Chediak-Higashi Syndrome 66 0.034
494
ADD001 Addison's Disease 65 0.034
495
P PRM019 Premature Ovarian Failure 63 0.034
496
P NJM001 Nijmegen Breakage Syndrome 61 0.034
497
P MST009 Mastocytosis 61 0.034
498
SCH014 Schistosomiasis 60 0.034
499
LMY002 Leiomyoma 59 0.034
500
c JVN010 Juvenile Rheumatoid Arthritis 59 0.034
501
CRY005 Cryptococcosis 58 0.034
502
P CRN015 Cornelia De Lange Syndrome 57 0.034
503
INS024 Insulin-Like Growth Factor I 58 0.034
504
MTC007 Mitochondrial Complex I Deficiency 57 0.034
505
P HRD011 Hereditary Spherocytosis 56 0.034
506
P HYP076 Hyperthyroidism 54 0.034
507
P MYP004 Myopathy 53 0.034
508
ASP005 Asphyxiating Thoracic Dystrophy 50 0.034
509
c OST080 Osteogenesis Imperfecta, Type Ii 50 0.034
510
THR004 Thrombocytosis 50 0.034
511
CLL003 Cellulitis 50 0.034
512
ECT006 Ectodermal Dysplasia 48 0.034
513
ART001 Arterial Tortuosity Syndrome 48 0.034
514
MSC077 Muscle Eye Brain Disease 47 0.034
515
LCH009 Lichen Sclerosus 42 0.034
516
c ACT076 Acute Myocarditis 40 0.034
517
SPL018 Splenomegaly 40 0.034
518
PLM035 Pulmonary Eosinophilia 38 0.034
519
P TRC005 Tracheal Stenosis 37 0.034
520
GYR003 Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 35 0.034
521
c ART101 Aortic Valve Disease 2 32 0.034
522
P CRB059 Cerebellar Degeneration 29 0.034
523
TFT003 Tufting Enteropathy 26 0.034
524
P MYX008 Myxoid Chondrosarcoma 24 0.034
525
P PLM037 Pulmonary Hypertension 85 0.033
526
P DMN001 Diamond-Blackfan Anemia 66 0.033
527
c NRF019 Neurofibromatosis, Type 2 59 0.033
528
c PRC016 Pre-Eclampsia 58 0.033
529
FLT001 Felty's Syndrome 55 0.033
530
P CRB042 Cerebellar Ataxia 54 0.033
531
ADL030 Adult-Onset Still's Disease 54 0.033
532
P ART023 Arthropathy 54 0.033
533
P ECL001 Eclampsia 53 0.033
534
P CFF001 Coffin-Siris Syndrome 53 0.033
535
P FBR017 Fibrosarcoma 52 0.033
536
BLR001 Biliary Atresia 51 0.033
537
HRP004 Herpes Zoster 49 0.033
538
P NML001 Nemaline Myopathy 49 0.033
539
PYD001 Pyoderma Gangrenosum 48 0.033
540
KRT006 Keratoconjunctivitis 48 0.033
541
PLY020 Polyradiculoneuropathy 46 0.033
542
P DRR001 Diarrhea 44 0.033
543
P CNG010 Congenital Stationary Night Blindness 44 0.033
544
EGG001 Egg Allergy 43 0.033
545
PYD002 Pyoderma 43 0.033
546
LYM051 Lymphomatoid Granulomatosis 43 0.033
547
DNG002 Dengue Hemorrhagic Fever 50 0.033
548
P CTN003 Cutaneous Lupus Erythematosus 41 0.033
549
JBR006 Joubert Syndrome with Oculorenal Anomalies 36 0.033
550
TTR016 Tetra-Amelia Syndrome 36 0.033
551
c 3MT015 3-Methylglutaconic Aciduria, Type I 36 0.033
552
BCL002 B Cell Deficiency 35 0.033
553
ORL015 Oral Squamous Cell Carcinoma 33 0.033
554
c MYT012 Myotonia Congenita, Recessive 31 0.033
555
CCC002 Coccidiosis 28 0.033
556
MDY004 Mody, Type Iii 26 0.033
557
PRN032 Paraneoplastic Cerebellar Degeneration 23 0.033
558
P LFR001 Li-Fraumeni Syndrome 81 0.032
559
SCK003 Sickle Cell Anemia 70 0.032
560
P HYP035 Hypophosphatasia 64 0.032
561
c NRF018 Neurofibromatosis, Type 1 65 0.032
562
BLM001 Bloom Syndrome 64 0.032
563
GTL001 Gitelman Syndrome 64 0.032
564
c MCP003 Mucopolysaccharidosis Vii 64 0.032
565
MLG056 Malignant Hyperthermia 62 0.032
566
GLN010 Glanzmann Thrombasthenia 63 0.032
567
P ATR011 Atrial Fibrillation 62 0.032
568
P KDN018 Kidney Disease 57 0.032
569
CNR002 Cone-Rod Dystrophy 56 0.032
570
P ANT006 Antiphospholipid Syndrome 55 0.032
571
PLY056 Polyposis, Juvenile Intestinal 53 0.032
572
MCR004 Macroglobulinemia 48 0.032
573
c SPN225 Spondyloarthropathy 1 48 0.032
574
ORL011 Oral Cancer 47 0.032
575
CRT002 Cartilage-Hair Hypoplasia 45 0.032
576
c GCH015 Gaucher Disease, Type I 46 0.032
577
P ORF001 Orofaciodigital Syndrome 44 0.032
578
c ATM024 Autoimmune Pancreatitis 44 0.032
579
DRM011 Dermatophytosis 40 0.032
580
P CLR017 Clear Cell Sarcoma 37 0.032
581
P MYT013 Myotonia Congenita, Dominant 34 0.032
582
c ORF037 Orofaciodigital Syndrome I 33 0.032
583
c ERL026 Early-Onset Autosomal Dominant Alzheimer Disease 31 0.032
584
NNS032 Non-Syndromic X-Linked Intellectual Disability 27 0.032
585
P MTC003 Metachromatic Leukodystrophy 76 0.031
586
PLY001 Polycythemia Vera 75 0.031
587
SMT004 Smith-Lemli-Opitz Syndrome 74 0.031
588
WLS001 Wilson Disease 74 0.031
589
P RBN001 Rubinstein-Taybi Syndrome 67 0.031
590
P PSD087 Pseudoxanthoma Elasticum 66 0.031
591
THY028 Thyroid Cancer 63 0.031
592
P AST007 Astrocytoma 63 0.031
593
P PND002 Pendred Syndrome 62 0.031
594
ANR002 Aniridia 61 0.031
595
c SYS004 Systemic Mastocytosis 60 0.031
596
P PLY018 Polycythemia 58 0.031
597
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 58 0.031
598
ALL008 Allergic Bronchopulmonary Aspergillosis 57 0.031
599
IRR002 Irritable Bowel Syndrome 56 0.031
600
PRT011 Protein C Deficiency 54 0.031
601
c GLY060 Glycogen Storage Disease Ia 53 0.031
602
HMR004 Hemorrhagic Fever with Renal Syndrome 51 0.031
603
LNG024 Langerhans-Cell Histiocytosis 51 0.031
604
P DBT083 Diabetes Mellitus, Permanent Neonatal 52 0.031
605
NRC020 Neuroectodermal Tumor 51 0.031
606
P CTR002 Cataract 50 0.031
607
WLF002 Wolf-Hirschhorn Syndrome 49 0.031
608
P LFT003 Left Ventricular Noncompaction 46 0.031
609
MLN007 Male Infertility 46 0.031
610
EXT033 Extrapulmonary Tuberculosis 46 0.031
611
HST009 Histiocytoma 46 0.031
612
P STR022 Stargardt Disease 45 0.031
613
P AML002 Amelogenesis Imperfecta 45 0.031
614
c ANT034 Anterior Uveitis 45 0.031
615
DSC009 Discoid Lupus Erythematosus 44 0.031
616
P AGM005 Agammaglobulinemia, X-Linked 1 44 0.031
617
OPT009 Optic Neuritis 42 0.031
618
c CNT035 Central Nervous System Disease 42 0.031
619
P SNR012 Senior-Loken Syndrome-1 43 0.031
620
DND018 Dendritic Cell Tumor 41 0.031
621
EVN001 Evans' Syndrome 39 0.031
622
FSC004 Fasciitis 39 0.031
623
CRN239 Carnitine Deficiency, Systemic Primary 39 0.031
624
ILS001 Ileus 38 0.031
625
THR104 Thrombophilia Due to Antithrombin Iii Deficiency 38 0.031
626
CRS001 Crescentic Glomerulonephritis 35 0.031
627
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 34 0.031
628
c FML297 Familial Thyroid Dyshormonogenesis 35 0.031
629
GST040 Gastric Adenocarcinoma 34 0.031
630
ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 32 0.031
631
P DND019 Dend Syndrome 31 0.031
632
SZR001 Sezary's Disease 31 0.031
633
DYS164 Dyskeratosis Congenita, X-Linked 30 0.031
634
c ACT115 Acute Myeloid Leukemia, Adult 27 0.031
635
MGL016 Megaloblastic Anemia-1, Finnish Type 24 0.031
636
c RTN092 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 24 0.031
637
RFR013 Refractory Celiac Disease 21 0.031
638
ISL085 Isolated Agammaglobulinemia 14 0.031
639
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 82 0.029
640
CDS001 Cadasil 73 0.029
641
P MDL005 Medulloblastoma 71 0.029
642
END057 Endometrial Cancer 71 0.029
643
P TBR001 Tuberous Sclerosis 68 0.029
644
BHC002 Behcet's Disease 68 0.029
645
P ESS003 Essential Thrombocythemia 66 0.029
646
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.029
647
P RFS001 Refsum Disease 63 0.029
648
P VLC001 Velocardiofacial Syndrome 60 0.029
649
P HYP086 Hypothyroidism 59 0.029
650
PLM033 Pulmonary Embolism 56 0.029
651
c BSL007 Basal Cell Carcinoma 56 0.029
652
PPL022 Papilloma 55 0.029
653
c LNG044 Long Qt Syndrome 1 55 0.029
654
c ACT027 Acute Pancreatitis 55 0.029
655
URT039 Urticaria 55 0.029
656
c PNC108 Pancreatitis, Hereditary 54 0.029
657
P THR005 Thrombotic Thrombocytopenic Purpura 53 0.029
658
ESN015 Eosinophilic Fasciitis 52 0.029
659
STF001 Stiff-Person Syndrome 52 0.029
660
APH001 Aphthous Stomatitis 52 0.029
661
c HPT003 Hepatitis a 51 0.029
662
MLR002 Miliary Tuberculosis 50 0.029
663
P RNL101 Renal Cell Carcinoma, Papillary 59 0.029
664
EPD016 Epidermolysis Bullosa 49 0.029
665
CHY002 Chylomicron Retention Disease 48 0.029
666
PLS007 Plasmodium Falciparum Malaria 48 0.029
667
c ACT134 Acute Liver Failure 48 0.029
668
DSM007 Desmoplastic Small Round Cell Tumor 47 0.029
669
c USH032 Usher Syndrome, Type 2a 47 0.029
670
FBR003 Fibrous Histiocytoma 46 0.029
671
HPY002 H. Pylori Infection 46 0.029
672
PRS115 Prosthetic Joint Infection 43 0.029
673
c STR084 Stargardt Disease 1 43 0.029
674
RTN001 Retinal Vasculitis 42 0.029
675
c LBR014 Leber Congenital Amaurosis 4 42 0.029
676
TRY001 Trypanosomiasis 42 0.029
677
P SCL009 Sclerosing Cholangitis 41 0.029
678
STP004 Staphylococcal Toxic Shock Syndrome 41 0.029
679
OHT001 Ohtahara Syndrome 40 0.029
680
c CHR527 Charcot-Marie-Tooth Disease, Type 1b 41 0.029
681
DMY004 Demyelinating Disease 39 0.029
682
CRV045 Cervical Intraepithelial Neoplasia 39 0.029
683
INT067 Interstitial Nephritis 38 0.029
684
LKP004 Leukopenia 38 0.029
685
CLR030 Clear Cell Renal Cell Carcinoma 38 0.029
686
THY043 Thymic Hyperplasia 36 0.029
687
MNG001 Mongolian Spot 36 0.029
688
SML019 Smallpox 36 0.029
689
c MCL016 Mucolipidosis Iii Gamma 35 0.029
690
c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 34 0.029
691
VRL011 Viral Infectious Disease 31 0.029
692
JBR005 Joubert Syndrome with Ocular Anomalies 31 0.029
693
ADN002 Adenoiditis 31 0.029
694
P NCL005 Nuclear Cataract 32 0.029
695
NRW001 Norwegian Scabies 30 0.029
696
BTT001 Bietti Crystalline Corneoretinal Dystrophy 30 0.029
697
CPT003 Cpt Deficiency, Hepatic, Type Ia 29 0.029
698
SST001 Sost-Related Sclerosing Bone Dysplasia 29 0.029
699
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 29 0.029
700
P ATM020 Autoimmune Enteropathy 26 0.029
701
GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 23 0.029
702
CRN057 Carnitine Palmitoyltransferase I Deficiency , Muscle 21 0.029
703
DRR008 Diarrhea 1, Secretory Chloride, Congenital 19 0.029
704
c KRT029 Keratoconus 1 17 0.029
705
ADR007 Adrenoleukodystrophy 76 0.028
706
P TYS001 Tay-Sachs Disease 73 0.028
707
CNG034 Congestive Heart Failure 69 0.028
708
LKC001 Leukocyte Adhesion Deficiency 65 0.028
709
P BPL003 Bipolar Disorder 65 0.028
710
ORN006 Ornithine Transcarbamylase Deficiency 64 0.028
711
ART016 Aortic Aneurysm 62 0.028
712
P CNG401 Congenital Heart Disease 62 0.028
713
HYP042 Hypochondroplasia 61 0.028
714
P HRS035 Hirschsprung Disease 1 58 0.028
715
c ALM001 Al Amyloidosis 56 0.028
716
P HRP009 Herpes Simplex Encephalitis 56 0.028
717
c TYR012 Tyrosinemia, Type I 56 0.028
718
c VRL010 Viral Hepatitis 54 0.028
719
BLL003 Bell's Palsy 54 0.028
720
P FTL001 Fetal Alcohol Syndrome 54 0.028
721
CHR103 Charge Syndrome 54 0.028
722
P PTT014 Pitt-Hopkins Syndrome 54 0.028
723
P RBL001 Rubella 53 0.028
724
MLD001 Melioidosis 62 0.028
725
MYC002 Mycobacterium Avium Complex Disease 51 0.028
726
OST024 Osteoporosis-Pseudoglioma Syndrome 51 0.028
727
CLF001 Cleft Lip 51 0.028
728
FLR002 Filariasis 50 0.028
729
PLS011 Plasmacytoma 49 0.028
730
FRN031 Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 48 0.028
731
VND002 Van Der Woude Syndrome 48 0.028
732
P HML033 Hemolytic Uremic Syndrome, Atypical 1 47 0.028
733
c JVN016 Juvenile Hyaline Fibromatosis 47 0.028
734
PST062 Pustulosis Palmaris Et Plantaris 47 0.028
735
PRP082 Porphyria, Congenital Erythropoietic 48 0.028
736
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 47 0.028
737
P ESN008 Eosinophilic Pneumonia 46 0.028
738
P DMN033 Dementia, Frontotemporal 47 0.028
739
HYP037 Hyperhomocysteinemia 45 0.028
740
AND010 Androgen Insensitivity, Partial, with or Without Breast Cancer 45 0.028
741
MYC005 Myocardial Stunning 43 0.028
742
MTH009 Mouth Disease 43 0.028
743
P NRV007 Nervous System Disease 42 0.028
744
c GLY016 Glycogen Storage Disease Ib 43 0.028
745
FML063 Familial Glucocorticoid Deficiency 42 0.028
746
LPD011 Lipoid Adrenal Hyperplasia 41 0.028
747
PRN039 Paraneoplastic Syndromes 40 0.028
748
LYM021 Lymphadenitis 39 0.028
749
P SPN052 Spondyloarthropathy 39 0.028
750
P NRL007 Neurologic Diseases 39 0.028
751
RSS002 Roussy-Levy Syndrome 38 0.028
752
P FML068 Familial Hypocalciuric Hypercalcemia 37 0.028
753
RNL051 Renal Cysts and Diabetes Syndrome 36 0.028
754
ADS004 Aids Dementia Complex 33 0.028
755
P 8P1002 8p11 Myeloproliferative Syndrome 32 0.028
756
c ALZ036 Alzheimer Disease, Type 3 30 0.028
757
c DYS039 Dyskeratosis Congenita Autosomal Dominant 30 0.028
758
CTR026 Cataract, Zonular 27 0.028
759
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.028
760
c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 26 0.028
761
IMM001 Immune-Complex Glomerulonephritis 23 0.028
762
c PSD090 Pseudohypoaldosteronism, Type Iia 21 0.028
763
c NRF011 Neurofibromatosis Type 3a 21 0.028
764
c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 20 0.028
765
MTC062 Mitochondrial Dna Depletion Syndrome 2 20 0.028
766
FLL042 Folliculotropic Mycosis Fungoides 19 0.028
767
CHR463 Chronic Actinic Dermatitis 19 0.028
768
c MYP011 Myopathy Congenital 19 0.028
769
BTH004 Bathing Suit Ichthyosis 12 0.028
770
TK2001 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form 9 0.028
771
MTC035 Mitochondrial Dna Depletion Syndrome, Myopathic Form 9 0.028
772
P ALZ034 Alzheimer Disease 100 0.026
773
P HYP607 Hypercholesterolemia, Familial 81 0.026
774
P HMC003 Hemochromatosis 75 0.026
775
P ALG002 Alagille Syndrome 73 0.026
776
P OST002 Osteoporosis 71 0.026
777
LSC001 Lesch-Nyhan Syndrome 69 0.026
778
KPS004 Kaposi Sarcoma 68 0.026
779
PRP083 Porphyria, Acute Intermittent 67 0.026
780
P CRD013 Cardiofaciocutaneous Syndrome 65 0.026
781
MGR002 Migraine 64 0.026
782
ABT001 Abetalipoproteinemia 63 0.026
783
CCC001 Coccidioidomycosis 63 0.026
784
NLP001 Nail-Patella Syndrome 61 0.026
785
P ABD003 Abdominal Aortic Aneurysm 58 0.026
786
LYM017 Lyme Disease 56 0.026
787
P HLT001 Holt-Oram Syndrome 56 0.026
788
RHM001 Rheumatic Fever 55 0.026
789
c MCP004 Mucopolysaccharidosis Iv 54 0.026
790
DFC004 Deficiency Anemia 54 0.026
791
DST005 Diastrophic Dysplasia 53 0.026
792
GTR002 Goiter 53 0.026
793
P DDN001 Duodenal Ulcer 53 0.026
794
TTR011 Tetraploidy 52 0.026
795
P CHL002 Childhood Absence Epilepsy 51 0.026
796
MTY001 Mutyh-Associated Polyposis 50 0.026
797
c USH006 Usher Syndrome, Type 1b 49 0.026
798
SLC006 Silicosis 49 0.026
799
BRN071 Brain Injury 49 0.026
800
CHR001 Churg-Strauss Syndrome 49 0.026
801
c ACT078 Acute Porphyria 49 0.026
802
CRY004 Cryoglobulinemia 49 0.026
803
VLV044 Vulvar Intraepithelial Neoplasia 48 0.026
804
HYP024 Hypoparathyroidism 48 0.026
805
URT001 Urethritis 48 0.026
806
GST063 Gastric Cancer Risk After H. Pylori Infection 47 0.026
807
JPN002 Japanese Encephalitis 46 0.026
808
INT221 Intravascular Large B-Cell Lymphoma 46 0.026
809
END031 Endometrial Stromal Sarcoma 46 0.026
810
PTT037 Pituitary Tumors 46 0.026
811
PST046 Post-Transplant Lymphoproliferative Disease 46 0.026
812
TLR001 Tularemia 45 0.026
813
INT066 Interstitial Lung Disease 44 0.026
814
GRN007 Granuloma Annulare 44 0.026
815
PRP023 Peripheral Neuropathy 44 0.026
816
ERY003 Erythema Multiforme 44 0.026
817
PRN049 Paraneoplastic Pemphigus 44 0.026
818
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 43 0.026
819
ART035 Arterial Calcification of Infancy 43 0.026
820
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 43 0.026
821
P CST002 Castleman's Disease 42 0.026
822
PMP004 Pemphigus Foliaceus 40 0.026
823
SPL004 Splenic Marginal Zone Lymphoma 40 0.026
824
SPN060 Spondylocarpotarsal Synostosis Syndrome 40 0.026
825
PRT038 Protein-Energy Malnutrition 40 0.026
826
XLN005 X-Linked Hyper Igm Syndrome 39 0.026
827
c CNG415 Congenital Disorder of Glycosylation, Type Ia 40 0.026
828
c MLG079 Malignant Pleural Mesothelioma 38 0.026
829
EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 37 0.026
830
NPH017 Nephrosis 36 0.026
831
PGM009 Pigmentary Retinopathy 35 0.026
832
P RNL017 Renal Oncocytoma 43 0.026
833
NCL006 Nicolaides-Baraitser Syndrome 35 0.026
834
RHY001 Rhyns Syndrome 34 0.026
835
INF013 Inferior Myocardial Infarction 33 0.026
836
VCS001 Vici Syndrome 33 0.026
837
c MLG132 Malignant Hyperthermia Susceptibility 1 33 0.026
838
EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 33 0.026
839
GRS011 Gerstmann-Straussler Disease 29 0.026
840
JNC002 Junctional Epidermolysis Bullosa Inversa 29 0.026
841
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 29 0.026
842
RCH001 Richter's Syndrome 29 0.026
843
c NPH054 Nephrotic Syndrome, Type 3 29 0.026
844
P CHR154 Charcot-Marie-Tooth Disease X-Linked 1 27 0.026
845
ADR040 Adrenal Gland Pheochromocytoma 28 0.026
846
CTR009 Cataract Congenital Dominant Non Nuclear 27 0.026
847
FTD003 Ftdals1 25 0.026
848
LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 23 0.026
849
c CNG119 Congenital Porphyria 21 0.026
850
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 19 0.026
851
HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 20 0.026
852
AND005 Androgen Insensitivity Syndrome, Mild 17 0.026
853
ISL011 Isolated Aniridia 15 0.026
854
c DFN201 Deafness, Autosomal Recessive 3 14 0.026
855
P CWD001 Cowden Disease 69 0.024
856
P NRC002 Narcolepsy 67 0.024
857
P ALX003 Alexander Disease 66 0.024
858
VNH007 Von Hippel-Lindau Syndrome 65 0.024
859
GLL008 Gilles De La Tourette Syndrome 64 0.024
860
BRN024 Bronchitis 62 0.024
861
P SDD001 Sudden Infant Death Syndrome 62 0.024
862
P FRD001 Friedreich Ataxia 61 0.024
863
P WLF004 Wolfram Syndrome 61 0.024
864
PLL001 Pallister-Hall Syndrome 61 0.024
865
TKY001 Takayasu's Arteritis 60 0.024
866
PLY017 Polyarteritis Nodosa 60 0.024
867
END030 End Stage Renal Failure 56 0.024
868
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 64 0.024
869
SMT008 Smith-Magenis Syndrome 56 0.024
870
CHR066 Chronic Fatigue Syndrome 55 0.024
871
P HYP040 Hypospadias 54 0.024
872
BRN022 Bronchiectasis 54 0.024
873
BCK001 Becker Muscular Dystrophy 61 0.024
874
ELL001 Ellis-Van Creveld Syndrome 53 0.024
875
HYP066 Hyperglycemia 52 0.024
876
DSS009 Disseminated Intravascular Coagulation 52 0.024
877
GLS001 Gliosarcoma 52 0.024
878
P RNL028 Renal Tubular Dysgenesis 52 0.024
879
ISC006 Ischemic Heart Disease 51 0.024
880
MLG108 Malignant Melanoma, Somatic 52 0.024
881
ECH003 Echinococcosis 51 0.024
882
VGN023 Vaginitis 51 0.024
883
VNZ002 Venezuelan Equine Encephalitis 50 0.024
884
P HMP006 Hemiplegic Migraine 50 0.024
885
HYP063 Hypersplenism 50 0.024
886
INS001 Insulinoma 49 0.024
887
TTH002 Tooth Agenesis 49 0.024
888
OST003 Osteonecrosis 49 0.024
889
P CNG046 Congenital Fiber-Type Disproportion 49 0.024
890
c MLT024 Multiple Endocrine Neoplasia Iia 49 0.024
891
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 47 0.024
892
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 47 0.024
893
PRP084 Propionicacidemia 48 0.024
894
KLN001 Klinefelter's Syndrome 47 0.024
895
PLR001 Pleural Tuberculosis 47 0.024
896
FLL013 Follicular Dendritic Cell Sarcoma 47 0.024
897
THY009 Thyroid Lymphoma 46 0.024
898
SWY002 Swyer Syndrome 46 0.024
899
c LPR012 Leopard Syndrome 1 46 0.024
900
PLY013 Polymyalgia Rheumatica 45 0.024
901
TCK001 Tick-Borne Encephalitis 45 0.024
902
P RST002 Restrictive Cardiomyopathy 45 0.024
903
P CNT005 Central Nervous System Lymphoma 45 0.024
904
c HPT007 Hepatitis E 45 0.024
905
HST016 Histiocytic Sarcoma 44 0.024
906
AVN001 Avian Influenza 43 0.024
907
CLN015 Colon Adenocarcinoma 43 0.024
908
LPD004 Lipoid Nephrosis 43 0.024
909
OBS001 Obstructive Jaundice 42 0.024
910
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 42 0.024
911
PLR009 Pol Iii-Related Leukodystrophies 42 0.024
912
PRN029 Parainfluenza Virus Type 3 41 0.024
913
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 41 0.024
914
XNT003 Xanthomatosis 41 0.024
915
P PRV002 Periventricular Nodular Heterotopia 41 0.024
916
P CLR108 Colorectal Adenoma 49 0.024
917
c CHR037 Chronic Eosinophilic Pneumonia 40 0.024
918
P BRS044 Breast Adenocarcinoma 39 0.024
919
MCP006 Mucoepidermoid Carcinoma 39 0.024
920
ANG054 Angina Pectoris 43 0.024
921
c SBC007 Subacute Thyroiditis 38 0.024
922
c ATM075 Autoimmune Encephalitis 38 0.024
923
FML290 Familial Gastric Cancer 39 0.024
924
DBT087 Diabetes Insipidus, Neurohypophyseal 38 0.024
925
PLR005 Pleuropneumonia 36 0.024
926
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 36 0.024
927
MYC017 Mycobacterium Kansasii 35 0.024
928
P KLF001 Kleefstra Syndrome 35 0.024
929
CD4003 Cd40 Ligand Deficiency 35 0.024
930
MYS040 Myasthenic Syndrome, Slow-Channel Congenital 35 0.024
931
P CRN038 Carney Complex Variant 34 0.024
932
OCL025 Ocular Toxoplasmosis 34 0.024
933
FNT004 Fainting 33 0.024
934
GRF001 Graft-Versus-Host Disease, Protection Against 32 0.024
935
ALP016 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 32 0.024
936
RHM028 Rheumatic Heart Disease 32 0.024
937
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 32 0.024
938
ATX015 Ataxia-Ocular Apraxia-2 32 0.024
939
ACT113 Acute Myeloblastic Leukemia with Maturation 31 0.024
940
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 31 0.024
941
c SYS043 Systemic Lupus Erythematosus 1 30 0.024
942
c PRK024 Parkinson Disease, Juvenile, Type 2 29 0.024
943
c GRN014 Grn-Related Frontotemporal Dementia 29 0.024
944
OBS067 Obesity Due to Melanocortin 4 Receptor Deficiency 29 0.024
945
c HRD020 Hereditary Renal Cell Carcinoma 27 0.024
946
P PST016 Posterior Polar Cataract 27 0.024
947
JBR007 Joubert Syndrome with Renal Anomalies 27 0.024
948
c CRN139 Cornelia De Lange Syndrome 1 26 0.024
949
P PLV017 Pulverulent Cataract 27 0.024
950
c CHR357 Charcot-Marie-Tooth Disease, Type 2a2 26 0.024
951
c HYP314 Hypocalciuric Hypercalcemia, Type I 24 0.024
952
FRN030 Frontotemporal Dementia with Parkinsonism-17 23 0.024
953
c MYH004 Myh9 Related Thrombocytopenia 22 0.024
954
c ACR092 Aicardi-Goutieres Syndrome 5 23 0.024
955
PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 22 0.024
956
c HLP012 Holoprosencephaly-3 22 0.024
957
c ATM030 Autoimmune Lymphoproliferative Syndrome, Type Ii 21 0.024
958
PTT045 Pituitary Hormone Deficiency, Combined, 1 22 0.024
959
c CRN243 Carney Complex, Type 1 21 0.024
960
HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 21 0.024
961
IMM110 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 20 0.024
962
HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 19 0.024
963
ADR026 Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 18 0.024
964
CHR271 Chromosome 9q Deletion 18 0.024
965
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 17 0.024
966
LYS014 Loeys-Dietz Syndrome, Type 2 17 0.024
967
c ELL008 Elliptocytosis-2 17 0.024
968
c CLR041 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 13 0.024
969
c HRD156 Hereditary Central Diabetes Insipidus 14 0.024
970
LYS006 Loeys-Dietz Syndrome Type 1b 12 0.024
971
P HRD008 Hereditary Hemorrhagic Telangiectasia 75 0.023
972
P CLD001 Cleidocranial Dysplasia 70 0.023
973
OVR078 Ovarian Cancer, Somatic 65 0.023
974
P LGH007 Leigh Syndrome 65 0.023
975
P DRV001 Dravet Syndrome 64 0.023
976
P PRD006 Prader-Willi Syndrome 64 0.023
977
PCK002 Pick Disease 64 0.023
978
c MCL042 Macular Degeneration, Age-Related, 1 72 0.023
979
P NMN002 Niemann-Pick Disease 63 0.023
980
WRN001 Werner Syndrome 62 0.023
981
ATT013 Attention Deficit-Hyperactivity Disorder 63 0.023
982
P BCK002 Beckwith-Wiedemann Syndrome 61 0.023
983
P THN009 Thanatophoric Dysplasia, Type I 62 0.023
984
P CHR071 Charcot-Marie-Tooth Disease 60 0.023
985
P CTR001 Citrullinemia 59 0.023
986
CST001 Costello Syndrome 59 0.023
987
CRB039 Cerebrovascular Disease 59 0.023
988
ACN011 Acne 58 0.023
989
EWN003 Ewing Sarcoma 59 0.023
990
TRC008 Trachoma 58 0.023
991
c SYS005 Systemic Scleroderma 58 0.023
992
GLL018 Gallbladder Cancer 58 0.023
993
ACT049 Acute Disseminated Encephalomyelitis 57 0.023
994
P WRD001 Waardenburg's Syndrome 57 0.023
995
P HYD006 Hydrocephalus 56 0.023
996
STS003 Sitosterolemia 56 0.023
997
LPM004 Lipoma 56 0.023
998
OTT002 Otitis Media 56 0.023
999
c VRL007 Viral Encephalitis 55 0.023
1000
DBT088 Diabetes Insipidus, Nephrogenic 56 0.023
1001
P SCH018 Schizencephaly 55 0.023
1002
ACR006 Aceruloplasminemia 55 0.023
1003
EPD006 Epidermolysis Bullosa Acquisita 55 0.023
1004
SPN186 Spinal Cord Injury 54 0.023
1005
TRN018 Transitional Cell Carcinoma 54 0.023
1006
WST001 West Syndrome 54 0.023
1007
P EHL049 Ehlers-Danlos Syndrome Classical Type 53 0.023
1008
P FRS003 Fraser Syndrome 53 0.023
1009
P SCK004 Seckel Syndrome 52 0.023
1010
ASP003 Aseptic Meningitis 52 0.023
1011
P FML043 Familial Idiopathic Basal Ganglia Calcification 52 0.023
1012
c ACT210 Acute Respiratory Distress Syndrome 52 0.023
1013
P STC001 Stickler Syndrome 51 0.023
1014
CTS003 Coats Disease 51 0.023
1015
TBR011 Tuberculous Meningitis 50 0.023
1016
GLC003 Glucose Intolerance 50 0.023
1017
c NMN015 Niemann-Pick Disease, Type C1 51 0.023
1018
MSM014 Mismatch Repair Cancer Syndrome 51 0.023
1019
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 50 0.023
1020
INT054 Intraocular Lymphoma 50 0.023
1021
LKN001 Leukoencephalopathy with Vanishing White Matter 51 0.023
1022
ACT095 Acute Biphenotypic Leukemia 49 0.023
1023
GRG001 Greig Cephalopolysyndactyly Syndrome 49 0.023
1024
MCR191 Microscopic Colitis 48 0.023
1025
c PSD095 Pseudohypoaldosteronism, Type I 49 0.023
1026
THL016 Thalassemias, Alpha- 48 0.023
1027
MLG077 Malignant Peripheral Nerve Sheath Tumor 48 0.023
1028
NRM003 Norum Disease 48 0.023
1029
MYL003 Myeloid Sarcoma 48 0.023
1030
P LSS002 Lissencephaly 47 0.023
1031
P MDL022 Medullary Thyroid Carcinoma, Familial 48 0.023
1032
SBC001 Subacute Sclerosing Panencephalitis 47 0.023
1033
PLG002 Plague 47 0.023
1034
URM002 Uremia 47 0.023
1035
c TBR024 Tuberous Sclerosis-1 47 0.023
1036
XLN010 X-Linked Adrenal Hypoplasia Congenita 46 0.023
1037
RTC002 Reticular Dysgenesis 46 0.023
1038
NWC001 Newcastle Disease 46 0.023
1039
HNT002 Hantavirus Pulmonary Syndrome 46 0.023
1040
KRT009 Keratosis 45 0.023
1041
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 45 0.023
1042
EHR002 Ehrlichiosis 45 0.023
1043
PRC013 Pericarditis 45 0.023
1044
PPT005 Peptic Ulcer Disease 45 0.023
1045
P CPL003 Capillary Leak Syndrome 45 0.023
1046
PRT103 Protoporphyria, Erythropoietic, Autosomal Recessive 45 0.023
1047
FCT005 Factor Xiii Deficiency 44 0.023