Search results for pnp

723 hits were found for pnp

# Family MCID Name MIFTS Score
1
PRN001 Purine Nucleoside Phosphorylase Deficiency 53 89.456
2
CMB007 Combined Immunodeficiency 57 18.899
3
SVR004 Severe Combined Immunodeficiency 72 18.310
4
ATM095 Autoimmune Disease 61 16.485
5
P LKM071 Leukemia, Chronic Lymphocytic 75 16.268
6
ADN001 Adenosine Deaminase Deficiency 59 15.553
7
P HML002 Hemolytic Anemia 62 14.850
8
PRN049 Paraneoplastic Pemphigus 44 14.350
9
IMM167 Immune Deficiency Disease 78 14.186
10
P LKM062 Leukemia, Acute Lymphoblastic 69 14.043
11
LSC001 Lesch-Nyhan Syndrome 62 13.919
12
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 13.494
13
P PMP001 Pemphigus 55 13.425
14
CMM004 Common Variable Immunodeficiency 72 11.598
15
HMT002 Hematologic Cancer 61 11.365
16
P PLY019 Polyneuropathy 52 11.300
17
MLY001 Molybdenum Cofactor Deficiency 40 10.751
18
P NRP001 Neuropathy 60 8.211
19
OMN001 Omenn Syndrome 63 8.036
20
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 47 7.726
21
RTC002 Reticular Dysgenesis 52 7.726
22
P PRP019 Peripheral Nervous System Disease 58 7.651
23
P BRL012 Bare Lymphocyte Syndrome, Type Ii 65 7.302
24
P PRN020 Paranasal Sinus Cancer 40 7.302
25
IMM081 Immunodeficiency 19 44 7.302
26
c OST125 Osteopetrosis, Autosomal Dominant 1 34 7.302
27
PRG009 Progressive Multifocal Leukoencephalopathy 58 7.302
28
PRN024 Purine-Pyrimidine Metabolic Disorder 25 7.302
29
MXL008 Maxillary Sinus Cancer 26 7.302
30
PMP006 Pemphigus Vulgaris, Familial 58 6.551
31
PMP014 Pemphigoid 51 5.795
32
BLL006 Bullous Pemphigoid 61 5.701
33
BRN002 Bronchiolitis 57 5.207
34
BRN012 Bronchiolitis Obliterans 56 4.960
35
PMP004 Pemphigus Foliaceus 43 4.832
36
P LKM002 Leukemia 67 4.691
37
GLM045 Glioma 63 4.428
38
STM007 Stomatitis 54 4.424
39
P RSP003 Respiratory Failure 74 4.322
40
GLL048 Glial Tumor 52 4.297
41
P ATR011 Atrial Fibrillation 66 4.216
42
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 4.076
43
CST005 Castleman Disease 56 3.998
44
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 3.915
45
LYM027 Lymphopenia 56 3.887
46
DBT004 Diabetic Polyneuropathy 50 3.670
47
P PNM007 Pneumonia 67 3.579
48
NRL016 Neural Tube Defects 81 3.545
49
P LCH002 Lichen Planus 54 3.494
50
ERY003 Erythema Multiforme 56 3.469
51
HRW001 Hair Whorl 35 3.425
52
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 3.306
53
P NRB001 Neuroblastoma 66 3.306
54
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 3.202
55
PRT037 Pertussis 65 3.143
56
RPD005 Rapidly Involuting Congenital Hemangioma 46 3.135
57
SKN016 Skin Disease 63 3.085
58
c PLM127 Pulmonary Hypertension, Primary, 3 34 3.067
59
CYS001 Cystic Fibrosis 78 3.057
60
P CRP001 Carpal Tunnel Syndrome 66 3.056
61
VCC001 Vaccinia 47 3.052
62
SPS057 Spasticity 42 3.019
63
P DMY001 Demyelinating Polyneuropathy 41 2.966
64
c LKM005 Leukemia, T-Cell, Chronic 34 2.902
65
SPN035 Spindle Cell Sarcoma 54 2.874
66
P CHR071 Charcot-Marie-Tooth Disease 64 2.874
67
SRC014 Sarcoma 65 2.874
68
P LYM118 Lymphoma 67 2.862
69
P HRP006 Herpes Simplex 65 2.862
70
P GLL022 Guillain-Barre Syndrome 60 2.843
71
ATS010 Autosomal Recessive Disease 42 2.828
72
FLL013 Follicular Dendritic Cell Sarcoma 44 2.779
73
c THY107 Thymoma, Familial 42 2.746
74
P THY023 Thymoma 64 2.746
75
P AMY004 Amyloidosis 70 2.713
76
SWN001 Swine Influenza 46 2.692
77
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 2.680
78
HLX001 Helix Syndrome 48 2.647
79
P PNC035 Pancreatic Cancer 86 2.646
80
P BCL017 B-Cell Lymphoma 59 2.646
81
DBT002 Diabetic Autonomic Neuropathy 41 2.620
82
P CTN015 Cutaneous T Cell Lymphoma 48 2.602
83
GT001 Gout 64 2.602
84
MYL069 Myeloma, Multiple 77 2.578
85
P CNJ013 Conjunctivitis 66 2.578
86
P FLL037 Follicular Lymphoma 74 2.543
87
DBT010 Diabetic Neuropathy 54 2.516
88
P MYS003 Myasthenia Gravis 68 2.507
89
CRT084 Creatinine Clearance Quantitative Trait Locus 25 2.461
90
ATN004 Autonomic Neuropathy 42 2.458
91
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 2.407
92
P PHC003 Pheochromocytoma 69 2.355
93
ADR040 Adrenal Gland Pheochromocytoma 46 2.355
94
c PLM128 Pulmonary Hypertension, Primary, 2 28 2.341
95
ERY029 Erythermalgia, Primary 58 2.321
96
TCL003 T Cell Deficiency 44 2.321
97
P BLD134 Bladder Cancer 79 2.282
98
P DBT009 Diabetes Mellitus 67 2.282
99
P ALC033 Alcohol Use Disorder 61 2.282
100
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 2.273
101
SCH014 Schistosomiasis 56 2.273
102
TTH006 Tooth Disease 51 2.242
103
P EXN002 Exanthem 58 2.202
104
P AGM001 Agammaglobulinemia 68 2.202
105
c ALM001 Al Amyloidosis 54 2.202
106
VTM002 Vitamin B12 Deficiency 48 2.161
107
P VSC011 Vasculitis 61 2.161
108
47X002 47,xyy 48 2.161
109
CHL014 Cholera 62 2.161
110
CHC001 Chickenpox 57 2.128
111
LYM143 Lymphoma, Non-Hodgkin, Familial 75 2.119
112
P NTR004 Neutropenia 63 2.119
113
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57 2.119
114
P CHR345 Chronic Pain 50 2.119
115
LYM133 Lymphoma, Hodgkin, Classic 74 2.076
116
GLB002 Glioblastoma 67 2.076
117
P HPT023 Hepatocellular Carcinoma 96 2.065
118
HYP014 Hyperuricemia 51 2.065
119
P NRF002 Neurofibromatosis 57 2.065
120
MTH047 Methanol Poisoning 37 2.032
121
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 2.032
122
c MCR115 Microvascular Complications of Diabetes 5 65 2.032
123
c DNT047 Dentinogenesis Imperfecta Type 2 35 2.000
124
P MYL006 Myeloid Leukemia 61 1.988
125
TRC003 Trichomoniasis 53 1.988
126
SNS003 Sensory Peripheral Neuropathy 52 1.988
127
PRP030 Purpura 54 1.988
128
CYT002 Cytokine Deficiency 43 1.988
129
c ANM038 Anemia, Autoimmune Hemolytic 64 1.942
130
CLN015 Colon Adenocarcinoma 65 1.942
131
P NRV007 Nervous System Disease 67 1.915
132
SPN186 Spinal Cord Injury 61 1.895
133
DSS008 Disease of Mental Health 74 1.895
134
TLN003 Telangiectasis 51 1.895
135
P MCR129 Microvascular Complications of Diabetes 1 68 1.892
136
P FBR017 Fibrosarcoma 56 1.881
137
MYC006 Mycosis Fungoides 65 1.858
138
PLM010 Pulmonary Edema 55 1.858
139
P MYC084 Mycobacterium Tuberculosis 1 68 1.798
140
P LYM033 Lymphoproliferative Syndrome 59 1.798
141
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 1.798
142
c PCH010 Pachyonychia Congenita 3 43 1.798
143
CMP010 Complex Regional Pain Syndrome 60 1.798
144
MCS002 Mucositis 56 1.798
145
PST053 Postherpetic Neuralgia 40 1.798
146
P TXP001 Toxoplasmosis 60 1.781
147
P RRT020 Rare Tumor 39 1.747
148
P ATX030 Ataxia-Telangiectasia 80 1.747
149
MLR004 Malaria 80 1.747
150
LNG099 Lung Disease 62 1.747
151
ALL029 Allergic Disease 59 1.747
152
ESP021 Esophageal Cancer 83 1.698
153
HRT012 Heart Valve Disease 53 1.695
154
DPH001 Diphtheria 59 1.695
155
TTN003 Tetanus 65 1.695
156
P MTR014 Motor Neuron Disease 65 1.695
157
MNN017 Mononeuropathy 41 1.695
158
P LNG032 Lung Cancer 98 1.641
159
c LKM063 Leukemia, Chronic Myeloid 71 1.641
160
P SLP006 Sleep Apnea 69 1.641
161
PRT251 Proteinuria, Chronic Benign 57 1.641
162
THY029 Thyroid Carcinoma 51 1.641
163
P LPS004 Lupus Erythematosus 61 1.641
164
c BCT013 Bacterial Pneumonia 48 1.641
165
HYP066 Hyperglycemia 61 1.641
166
FBR047 Fibromyalgia 58 1.641
167
P MLN008 Melanoma 76 1.641
168
ALC007 Alcohol Dependence 66 1.607
169
c LKM061 Leukemia, Acute Myeloid 83 1.586
170
THY111 Thyroid Carcinoma, Familial Medullary 67 1.586
171
THY125 Thyroid Gland Medullary Carcinoma 48 1.586
172
MNC006 Monoclonal Gammopathy of Uncertain Significance 47 1.586
173
P ART022 Arthritis 71 1.586
174
RCK004 Rickets 68 1.586
175
NRV004 Nerve Compression Syndrome 44 1.586
176
P AXN001 Axonal Neuropathy 35 1.586
177
c SYS001 Systemic Lupus Erythematosus 87 1.528
178
THR100 Thrombocytopenic Purpura, Autoimmune 61 1.528
179
c TYP009 Type 2 Diabetes Mellitus 92 1.528
180
INF058 Inflammatory Myofibroblastic Tumor 45 1.528
181
P BLL007 Bullous Skin Disease 35 1.528
182
P GRF003 Graft-Versus-Host Disease 71 1.528
183
P GCH001 Gaucher's Disease 70 1.528
184
P ADN016 Adenocarcinoma 63 1.528
185
HMP009 Haemophilus Influenzae 41 1.528
186
PPL052 Papillomatosis, Confluent and Reticulated 34 1.507
187
P CHL066 Cholangitis 52 1.507
188
P SCL009 Sclerosing Cholangitis 48 1.507
189
HYP266 Hypoxia 57 1.507
190
c LKM056 Leukemia, Chronic Lymphocytic 2 48 1.477
191
P RHM011 Rheumatoid Arthritis 82 1.468
192
P RST001 Restless Legs Syndrome 52 1.468
193
P INF037 Inflammatory Bowel Disease 53 1.468
194
IGP001 Iga Pemphigus 28 1.468
195
P SKN015 Skin Carcinoma 71 1.468
196
ART016 Aortic Aneurysm 68 1.468
197
ACQ007 Acquired Immunodeficiency Syndrome 59 1.468
198
CNN005 Connective Tissue Disease 67 1.468
199
RDC002 Radiculopathy 52 1.468
200
LYM040 Lymphoblastic Lymphoma 53 1.468
201
ALC011 Alcoholic Neuropathy 34 1.468
202
P MYT002 Myotonic Dystrophy 51 1.468
203
CRV035 Cervical Cancer 73 1.405
204
c MYT021 Myotonic Dystrophy 1 68 1.405
205
P CLR023 Colorectal Cancer 100 1.405
206
GLC003 Glucose Intolerance 54 1.405
207
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 1.405
208
P PRD008 Periodontitis 64 1.405
209
P SLP005 Sleep Disorder 61 1.405
210
TCL027 T-Cell Acute Lymphoblastic Leukemia 51 1.405
211
HML018 Homologous Wasting Disease 21 1.405
212
BCK006 Back Pain 47 1.405
213
UNC014 Unicentric Castleman Disease 21 1.405
214
MLT075 Multifocal Motor Neuropathy 45 1.405
215
ATH013 Atherosclerosis Susceptibility 63 1.340
216
STR067 Stroke, Ischemic 80 1.340
217
PRP027 Peripheral Vascular Disease 71 1.340
218
P URN019 Urinary Tract Infection 49 1.340
219
CLT003 Colitis 63 1.340
220
MLD018 Mild Cognitive Impairment 48 1.340
221
PLM129 Pulmonary Disease, Chronic Obstructive 74 1.340
222
PNG002 Pain Agnosia 51 1.340
223
CRH001 Crohn's Disease 80 1.340
224
c CHR684 Chronic Kidney Disease 69 1.340
225
ULC004 Ulcerative Colitis 74 1.340
226
CHR074 Choriocarcinoma 46 1.340
227
P LNG064 Lung Cancer Susceptibility 3 70 1.340
228
HRY003 Hairy Cell Leukemia 61 1.340
229
CCT002 Cicatricial Pemphigoid 53 1.340
230
BRN024 Bronchitis 67 1.340
231
PLR005 Pleuropneumonia 33 1.340
232
SQM006 Squamous Cell Carcinoma 60 1.340
233
P BRN022 Bronchiectasis 60 1.340
234
MSL001 Measles 61 1.340
235
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 1.271
236
P SLM003 Salmonellosis 54 1.271
237
SVR097 Severe Cutaneous Adverse Reaction 69 1.271
238
c SML038 Small Cell Cancer of the Lung 69 1.271
240
ERY066 Erythema Multiforme Major 29 1.271
241
SVR002 Severe Nonproliferative Diabetic Retinopathy 36 1.271
242
P PSR002 Psoriasis 63 1.271
243
P ANT006 Antiphospholipid Syndrome 55 1.271
244
PST011 Pustulosis of Palm and Sole 52 1.271
245
P THY032 Thyroiditis 57 1.271
246
c MCR112 Microvascular Complications of Diabetes 2 42 1.271
247
MCL006 Macular Retinal Edema 57 1.271
248
P HRD207 Hereditary Transthyretin Amyloidosis 25 1.271
249
SPL018 Splenomegaly 49 1.271
250
WLL004 Wallerian Degeneration 38 1.271
251
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 46 1.271
252
P LVR013 Liver Disease 69 1.259
253
SQM013 Squamous Cell Carcinoma, Head and Neck 73 1.241
254
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 1.220
255
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 1.220
256
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 1.220
257
P BRS047 Breast Cancer 98 1.220
258
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 1.220
259
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 1.220
260
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 1.220
261
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 1.220
262
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 1.220
263
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 1.220
264
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 1.220
265
FNG017 Fungal Infectious Disease 54 1.220
266
c AXN013 Axonal Hereditary Motor and Sensory Neuropathy 13 1.199
267
PLY150 Polykaryocytosis Inducer 29 1.199
268
P APL001 Aplastic Anemia 73 1.199
269
MNT001 Mantle Cell Lymphoma 67 1.199
270
MYL009 Myelodysplastic Syndrome 67 1.199
271
GLB001 Gilbert Syndrome 53 1.199
272
P PLY041 Polymyositis 59 1.199
273
c ACT073 Acute Leukemia 58 1.199
274
ULN001 Ulnar Neuropathy 28 1.199
275
P RHB003 Rhabdomyosarcoma 66 1.199
276
P TRM003 Tremor 48 1.199
277
P ALP008 Alopecia 54 1.199
278
P BRS044 Breast Adenocarcinoma 58 1.199
280
P HMN010 Hemangioma 62 1.199
281
IMP005 Impotence 52 1.199
282
CNT016 Central Retinal Vein Occlusion 54 1.199
283
P RTN022 Retinal Vein Occlusion 54 1.199
284
ATN005 Autonomic Dysfunction 46 1.199
285
PRN039 Paraneoplastic Syndromes 37 1.199
286
PMP008 Pemphigus Vegetans 27 1.121
287
BRN032 Brain Glioma 45 1.121
288
BNR002 Bone Resorption Disease 47 1.121
289
TRG002 Trigeminal Neuralgia 61 1.121
290
P GLM040 Glioma Susceptibility 1 71 1.121
291
MCR004 Macroglobulinemia 49 1.121
292
URM002 Uremia 47 1.121
293
P KDN018 Kidney Disease 72 1.121
294
P THR014 Thrombocytopenia 66 1.121
295
P DMN002 Dementia 66 1.121
296
SKN005 Skin Atrophy 41 1.121
297
PRM003 Premature Ejaculation 44 1.121
298
P VSC007 Vascular Disease 63 1.121
299
MLG169 Malignant Astrocytoma 57 1.121
300
MNN009 Meningoencephalitis 48 1.121
301
HDR002 Hidradenitis Suppurativa 54 1.121
302
HDR003 Hidradenitis 50 1.121
303
P LMY004 Leiomyosarcoma 62 1.121
304
P HYP265 Hypotonia 42 1.121
305
OVR094 Ovarian Epithelial Cancer 39 1.121
306
P SZR006 Seizure Disorder 70 1.084
307
P SBS003 Substance Abuse 54 1.084
308
c ACT027 Acute Pancreatitis 60 1.044
309
P PNC044 Pancreatitis 61 1.044
310
ACN002 Acanthosis Nigricans 56 1.038
311
c AMY091 Amyotrophic Lateral Sclerosis 1 88 1.038
312
GST092 Gastroesophageal Reflux 61 1.038
313
LNG095 Lung Abscess 51 1.038
314
NTR042 Neutrophilic Dermatosis, Acute Febrile 55 1.038
315
c HYP836 Hypercholesterolemia, Familial, 1 73 1.038
316
BCT022 Bacterial Infectious Disease 56 1.038
317
P CHR285 Chronic Myelomonocytic Leukemia 60 1.038
318
SRC009 Sarcomatosis 31 1.038
319
P MYP004 Myopathy 67 1.038
320
APP009 Appendix Adenocarcinoma 45 1.038
321
MCN001 Mucinous Adenocarcinoma 49 1.038
322
EPD006 Epidermolysis Bullosa Acquisita 48 1.038
323
P PLY020 Polyradiculoneuropathy 46 1.038
324
P MNC007 Monocytic Leukemia 47 1.038
325
P DRM010 Dermatomyositis 61 1.038
326
DNT012 Dental Caries 53 1.038
327
P LTR001 Lateral Sclerosis 58 1.038
328
P BRB001 Beriberi 44 1.038
329
BRC012 Brucellosis 66 1.038
330
P PYL005 Pyelonephritis 57 1.038
331
HYP008 Hypertensive Retinopathy 39 1.038
332
ADJ001 Adjustment Disorder 47 1.038
333
ISC004 Ischemia 61 1.038
334
P EPD016 Epidermolysis Bullosa 53 1.038
335
QDR001 Quadriplegia 50 1.038
336
48X005 48,xyyy 39 1.038
337
c HRD088 Hereditary Neuropathies 33 1.038
338
LNR006 Linear Iga Disease 40 1.038
339
c TYP008 Type 1 Diabetes Mellitus 70 0.948
340
P SPN237 Spina Bifida Aperta 19 0.948
341
ANX004 Anoxia 40 0.948
342
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.948
343
HRL003 Hurler Syndrome 66 0.948
344
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.948
345
MSC157 Muscular Dystrophy, Duchenne Type 79 0.948
346
END057 Endometrial Cancer 72 0.948
347
c ATR087 Atrial Standstill 1 74 0.948
348
BRK010 Burkitt Lymphoma 66 0.948
349
PRP080 Peripheral Artery Disease 54 0.948
350
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.948
351
IMM003 Immunoglobulin Alpha Deficiency 44 0.948
352
P HNT016 Huntington Disease 73 0.948
353
SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 47 0.948
354
APN008 Apnea, Obstructive Sleep 67 0.948
355
P MVM001 Movement Disease 61 0.948
356
CMP052 Complication in Hemodialysis 16 0.948
357
P MSC005 Muscular Dystrophy 67 0.948
358
P HYP098 Hypereosinophilic Syndrome 66 0.948
359
P PRS038 Personality Disorder 65 0.948
360
AVD001 Avoidant Personality Disorder 49 0.948
361
CLL014 Cll/sll 45 0.948
362
END086 End Stage Renal Disease 52 0.948
363
NPH009 Nephrolithiasis 54 0.948
364
CRB004 Cerebral Artery Occlusion 45 0.948
365
PLR008 Pleurisy 50 0.948
366
BRN028 Brain Cancer 74 0.948
367
P PLM006 Pulmonary Alveolar Proteinosis 53 0.948
368
P GRV001 Graves' Disease 55 0.948
369
MLL002 Miller Fisher Syndrome 40 0.948
370
P HYP086 Hypothyroidism 69 0.948
371
HGH043 High Grade Glioma 45 0.948
372
MLT010 Multiple Personality Disorder 29 0.948
373
DSS010 Dissociative Disorder 39 0.948
374
BRD004 Borderline Personality Disorder 53 0.948
375
GLM004 Gliomatosis Cerebri 52 0.948
376
P HYP076 Hyperthyroidism 53 0.948
377
c GM2006 Gm2 Gangliosidosis 46 0.948
378
GST045 Gastroenteritis 58 0.948
379
PMS001 Poems Syndrome 60 0.948
380
SPS003 Spastic Diplegia 53 0.948
381
c HPT016 Hepatitis B 62 0.948
382
STT001 Status Epilepticus 59 0.948
383
PST028 Post-Traumatic Stress Disorder 59 0.948
384
HRP004 Herpes Zoster 61 0.948
385
P DYS021 Dysautonomia 38 0.948
386
AMY005 Amyloid Neuropathy 31 0.948
387
P GNG009 Gangliosidosis 44 0.948
388
CMB095 Combined T and B Cell Immunodeficiency 17 0.897
389
c PNS012 Paine Syndrome 60 0.877
390
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 38 0.877
391
c EPS039 Episodic Pain Syndrome, Familial, 1 42 0.877
392
P TRN020 Turner Syndrome 67 0.877
393
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 0.848
394
P THL005 Thalassemia 56 0.848
395
PRC051 Paracetamol Poisoning 29 0.848
396
c ART115 Aortic Valve Disease 1 74 0.848
397
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.848
398
c DRM040 Dermatitis Herpetiformis, Familial 35 0.848
399
P DRM053 Dermatitis, Atopic 65 0.848
400
OTT002 Otitis Media 71 0.848
401
SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 35 0.848
402
c PRG021 Paragangliomas 4 37 0.848
403
CHD004 Chudley-Mccullough Syndrome 48 0.848
404
c GCH016 Gaucher Disease, Type Ii 53 0.848
405
RTC009 Reticulum Cell Sarcoma 44 0.848
406
URT049 Urate Oxidase, Pseudogene 24 0.848
407
NPH091 Nephrolithiasis, Calcium Oxalate 61 0.848
408
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 51 0.848
409
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 53 0.848
410
P PRS062 Persistent Hyperplastic Primary Vitreous 48 0.848
411
PSD004 Pseudomembranous Conjunctivitis 26 0.848
412
P PRK039 Parkinsonism 55 0.848
413
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 43 0.848
414
PLM001 Pulmonary Tuberculosis 69 0.848
415
P LPM005 Lipomatosis 47 0.848
416
P PLM036 Pulmonary Fibrosis 66 0.848
417
PYD002 Pyoderma 50 0.848
418
P INF038 Influenza 68 0.848
419
P CRN028 Corneal Ulcer 47 0.848
420
P DRM007 Dermatitis Herpetiformis 54 0.848
421
c NNN034 Noonan Syndrome 12 27 0.848
422
LMB002 Lambert-Eaton Myasthenic Syndrome 52 0.848
423
PRL017 Prolymphocytic Leukemia 47 0.848
424
c BSL007 Basal Cell Carcinoma 68 0.848
425
FCL012 Facial Paralysis 49 0.848
426
GLC009 Glucosephosphate Dehydrogenase Deficiency 53 0.848
427
P HRT032 Heart Disease 81 0.848
428
CRD001 Cardiac Tamponade 43 0.848
429
P NNT058 Neonatal Diabetes 52 0.848
430
c INH020 Inherited Metabolic Disorder 48 0.848
431
LVR012 Liver Cirrhosis 63 0.848
432
P OVR046 Ovarian Cyst 46 0.848
433
P CTS001 Cutis Laxa 65 0.848
434
P LPS002 Liposarcoma 64 0.848
435
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 0.848
436
LYM021 Lymphadenitis 56 0.848
437
HYP060 Hyperinsulinism 54 0.848
438
PLM033 Pulmonary Embolism 58 0.848
439
P ENC004 Encephalitis 61 0.848
440
P HMP007 Hemophilia 52 0.848
441
P ENC018 Encephalopathy 62 0.848
442
DYS073 Dysphagia 53 0.848
443
MYC014 Mycobacterium Chelonae 29 0.848
444
HRP026 Herpetiform Pemphigus 18 0.734
445
INH031 Inherited Epidermolysis Bullosa 29 0.734
446
CMP102 Complications After Hematopoietic Stem Cell Transplantation 21 0.734
447
ATM109 Autoimmune Bullous Skin Disease 12 0.734
448
P LPR021 Leprosy 3 71 0.734
449
ANR007 Anorexia Nervosa 60 0.734
450
AGN016 Aging 54 0.734
451
CD4008 Cd4/cd8 T-Cell Ratio 19 0.734
452
P AST005 Asthma 76 0.734
453
ANX010 Anxiety 70 0.734
454
P MYS005 Myositis 56 0.734
455
OCL020 Ocular Cicatricial Pemphigoid 52 0.734
456
P PLM037 Pulmonary Hypertension 72 0.734
457
TRC010 Trichotillomania 50 0.734
458
SXL003 Sexual Disorder 49 0.734
459
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.734
460
WLS001 Wilson Disease 70 0.734
461
c HYP794 Hyperoxaluria, Primary, Type I 63 0.734
462
SPN019 Spondylolisthesis 52 0.734
463
RFL001 Reflex Sympathetic Dystrophy 51 0.734
464
KWS002 Kawasaki Disease 65 0.734
465
c BRS111 Breast-Ovarian Cancer, Familial 2 53 0.734
466
LGN006 Legionnaire Disease 52 0.734
467
PHN003 Phenylketonuria 76 0.734
468
RNL114 Renal Cell Carcinoma, Nonpapillary 80 0.734
469
c FML116 Familial Cold Autoinflammatory Syndrome 1 55 0.734
470
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 50 0.734
471
DSS032 Disease by Infectious Agent 55 0.734
472
OST017 Osteomyelitis 63 0.734
473
ARG004 Argyria 26 0.734
474
P GLL020 Gallbladder Disease 56 0.734
475
P HRD008 Hereditary Hemorrhagic Telangiectasia 65 0.734
476
P DYS154 Dystonia 64 0.734
477
DRM011 Dermatophytosis 52 0.734
478
INT075 Intracranial Hypertension 53 0.734
479
P PLY017 Polyarteritis Nodosa 60 0.734
480
P ALP009 Alopecia Areata 59 0.734
481
PNC129 Pancreatic Adenocarcinoma 65 0.734
482
P CND004 Candidiasis 58 0.734
483
PNM008 Pneumothorax 54 0.734
484
NRM005 Neuromuscular Disease 63 0.734
485
TNC002 Tinea Capitis 42 0.734
486
c DLT002 Dilated Cardiomyopathy 78 0.734
487
ALG001 Algoneurodystrophy 38 0.734
488
BCL002 B Cell Deficiency 41 0.734
489
P END044 Endometriosis 62 0.734
490
GST033 Gestational Diabetes 61 0.734
491
P BND020 Bone Disease 59 0.734
492
SPS004 Spastic Quadriplegia 40 0.734
493
EPT011 Epithelioid Leiomyosarcoma 29 0.734
494
PRT029 Parathyroid Adenoma 51 0.734
495
P PRM002 Primary Hyperoxaluria 65 0.734
496
ACN001 Acinar Cell Carcinoma 45 0.734
497
LPD008 Lipid Metabolism Disorder 62 0.734
498
P ART021 Arteriosclerosis 54 0.734
499
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.734
500
P GLM007 Glomerulonephritis 60 0.734
501
P PTS002 Ptosis 52 0.734
502
GNR004 Generalized Anxiety Disorder 55 0.734
503
IRN002 Iron Metabolism Disease 57 0.734
504
HYP056 Hypoglycemia 65 0.734
505
TNS014 Tenosynovitis 46 0.734
506
HNS001 Hansen's Disease 32 0.734
507
P SCK005 Sickle Cell Disease 56 0.734
508
PRS063 Paresthesia 39 0.734
509
HYP264 Hypertonia 36 0.734
510
DND018 Dendritic Cell Tumor 41 0.734
511
ANC002 Anca-Associated Vasculitis 44 0.734
512
LCH013 Lichen Planus Pemphigoides 33 0.734
513
LYM052 Lymphomatoid Papulosis 38 0.734
514
SDD001 Sudden Infant Death Syndrome 60 0.660
515
c PLM121 Pulmonary Hypertension, Primary, 4 28 0.660
516
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.660
517
CRD137 Cardiogenic Shock 56 0.660
518
P ART018 Aortic Valve Insufficiency 52 0.660
519
P FBR031 Febrile Seizures 52 0.660
520
c ART101 Aortic Valve Disease 2 66 0.620
521
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 0.620
522
NTR005 Nutritional Deficiency Disease 61 0.620
523
GRV012 Grover's Disease 29 0.599
524
NRM022 Neurometabolic Disease 24 0.599
525
P ALZ034 Alzheimer Disease 87 0.599
526
CRD132 Cardiac Conduction Defect 60 0.599
527
FBR012 Fabry Disease 70 0.599
528
P KLZ004 Kala-Azar 1 41 0.599
529
P SCH015 Schizophrenia 74 0.599
530
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 54 0.599
531
P OVR042 Ovarian Cancer 88 0.599
532
c THR082 Thrombophilia Due to Activated Protein C Resistance 59 0.599
533
PMP013 Pemphigus Gestationis 19 0.599
534
KPS004 Kaposi Sarcoma 77 0.599
535
HSH003 Hashimoto Thyroiditis 60 0.599
536
INT323 Intraocular Pressure Quantitative Trait Locus 64 0.599
537
WST005 West Nile Virus 57 0.599
538
ORT008 Orotic Aciduria 57 0.599
539
LPM010 Lipomatosis, Multiple Symmetric 41 0.599
540
ADN024 Adenine Phosphoribosyltransferase Deficiency 53 0.599
541
NRR001 Neuroretinitis 42 0.599
542
XLN228 X-Linked Recessive Disease 24 0.599
543
MXL004 Maxillary Sinus Squamous Cell Carcinoma 29 0.599
544
URM001 Uremic Neuropathy 19 0.599
545
SRC002 Sarcomatoid Renal Cell Carcinoma 41 0.599
546
AVN001 Avian Influenza 61 0.599
547
P HYP077 Hypertrichosis 46 0.599
548
LCN001 Lice Infestation 41 0.599
549
GST012 Gastroesophageal Junction Adenocarcinoma 45 0.599
550
RTN023 Retinitis 46 0.599
551
DGN001 Degenerative Disc Disease 49 0.599
552
LSH001 Leishmaniasis 64 0.599
553
PRN008 Peroneal Nerve Paralysis 24 0.599
554
c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 33 0.599
555
SYN036 Syncope 45 0.599
556
P RRH023 Rare Hereditary Hemochromatosis 54 0.599
557
PRC013 Pericarditis 53 0.599
558
P OPT006 Optic Nerve Disease 58 0.599
559
INS001 Insulinoma 59 0.599
560
P GST044 Gastritis 55 0.599
561
PRN016 Peroneal Neuropathy 31 0.599
562
PLX004 Plexopathy 29 0.599
563
OST012 Osteoarthritis 77 0.599
564
ANT007 Anterior Horn Cell Disease 31 0.599
565
SBC012 Subcorneal Pustular Dermatosis 45 0.599
566
ASP007 Aspiration Pneumonia 49 0.599
567
P HMP002 Hemophagocytic Lymphohistiocytosis 61 0.599
568
TCK001 Tick-Borne Encephalitis 59 0.599
569
HMS001 Hemosiderosis 48 0.599
570
CHG001 Chagas Disease 66 0.599
571
RTN003 Retinal Ischemia 49 0.599
572
P HYP061 Hypertrophic Cardiomyopathy 69 0.599
573
PRM236 Primary Biliary Cholangitis 60 0.599
574
ACT029 Acute Interstitial Pneumonia 59 0.599
575
TXC005 Toxic Shock Syndrome 62 0.599
576
PSY004 Psychotic Disorder 66 0.599
577
PMP002 Pemphigoid Gestationis 38 0.599
578
P THR005 Thrombotic Thrombocytopenic Purpura 64 0.599
579
P HYD006 Hydrocephalus 61 0.599
580
CYT005 Cytomegalovirus Retinitis 50 0.599
581
LYM017 Lyme Disease 62 0.599
582
P INF032 Infertility 57 0.599
583
MDN002 Median Neuropathy 24 0.599
584
MDD011 Mood Disorder 62 0.599
585
P OBS001 Obstructive Jaundice 48 0.599
586
ORL005 Oral Candidiasis 56 0.599
587
TYP007 Typhoid Fever 64 0.599
588
GST037 Gastroparesis 52 0.599
589
TXC008 Toxic Optic Neuropathy 27 0.599
590
CHL068 Cholestasis 61 0.599
591
PRM024 Primary Angle-Closure Glaucoma 39 0.599
592
P NRM002 Normal Pressure Hydrocephalus 49 0.599
593
SPN027 Spinal Stenosis 59 0.599
594
c JVN010 Juvenile Rheumatoid Arthritis 66 0.599
595
P MYC008 Myocarditis 59 0.599
596
PTH003 Pathologic Nystagmus 52 0.599
597
HRP011 Herpes Zoster Ophthalmicus 24 0.599
598
P HDC001 Headache 57 0.599
599
PTT037 Pituitary Tumors 44 0.599
600
UTR043 Uterine Sarcoma 40 0.599
602
MCR225 Macrophage Activation Syndrome 45 0.599
603
PRM050 Primary Orthostatic Tremor 24 0.599
604
DHY008 Dihydroxyadeninuria 24 0.599
605
PRN018 Paraneoplastic Polyneuropathy 23 0.599
606
P ATS364 Autism 69 0.424
607
MTC005 Mitochondrial Metabolism Disease 45 0.424
608
PMP009 Pemphigus Erythematosus 29 0.424
609
P ACT236 Acute Motor and Sensory Axonal Neuropathy 18 0.424
610
c ACT134 Acute Liver Failure 59 0.424
611
RDC006 Red Cell Aplasia 44 0.424
612
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 0.424
613
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 50 0.424
614
P WSK001 Wiskott-Aldrich Syndrome 72 0.424
615
LPD012 Lipoid Congenital Adrenal Hyperplasia 70 0.424
616
ART002 Arts Syndrome 66 0.424
617
HRL004 Hurler-Scheie Syndrome 57 0.424
618
ALL003 Allergic Rhinitis 67 0.424
619
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 60 0.424
620
P SPR120 Supranuclear Palsy, Progressive, 1 69 0.424
621
GRW026 Growth Hormone Insensitivity, Partial 26 0.424
622
c OPT053 Optic Atrophy 1 62 0.424
623
c MGR028 Migraine with or Without Aura 1 64 0.424
624
P PRK057 Parkinson Disease, Late-Onset 80 0.424
625
IMM169 Immunoerythromyeloid Hypoplasia 22 0.424
626
P ERL057 Early Infantile Epileptic Encephalopathy 60 0.424
627
P ANP001 Anaplastic Large Cell Lymphoma 61 0.424
628
PRP036 Peripheral T-Cell Lymphoma 53 0.424
629
CRB150 Cerebral Creatine Deficiency Syndrome 2 54 0.424
630
PRT129 Prothrombin Deficiency, Congenital 49 0.424
631
CMP090 Complement Component 3 Deficiency, Autosomal Recessive 45 0.424
632
c BTT014 Beta-Thalassemia 72 0.424
633
DFC004 Deficiency Anemia 74 0.424
634
P LTH003 Lethal Congenital Contracture Syndrome 41 0.424
635
THR024 Thrombosis 56 0.424
636
CLS016 Clostridium Difficile Colitis 49 0.424
637
c CNG006 Congenital Hypothyroidism 63 0.424
638
KRN002 Kearns-Sayre Syndrome 63 0.424
639
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56 0.424
640
c BRN108 Branchiootic Syndrome 1 62 0.424
641
PRP001 Propionic Acidemia 65 0.424
642
LGH019 Light Fixation Seizure Syndrome 27 0.424
643
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.424
644
SFR001 Sifrim-Hitz-Weiss Syndrome 29 0.424
645
c SPH014 Spherocytosis, Type 2 38 0.424
646
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.424
647
P NJM001 Nijmegen Breakage Syndrome 76 0.424
648
c GRS012 Griscelli Syndrome, Type 3 36 0.424
649
CHD001 Chediak-Higashi Syndrome 67 0.424
650
c GLY008 Glycogen Storage Disease Ii 72 0.424
651
EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36 0.424
652
PTR032 Peters-Plus Syndrome 63 0.424
653
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.424
654
GLT007 Glutathione Synthetase Deficiency 48 0.424
655
c HYP595 Hypertension, Essential 85 0.424
656
SCH036 Scheie Syndrome 73 0.424
657
CLR109 Colorectal Adenocarcinoma 50 0.424
658
MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 47 0.424
660
P GRS003 Griscelli Syndrome 53 0.424
661
P MSC003 Muscular Atrophy 52 0.424
662
SPC005 Speech Disorder 45 0.424
663
c PRG011 Progressive Myoclonus Epilepsy 41 0.424
664
PST092 Posttransplant Acute Limbic Encephalitis 28 0.424
665
NNT008 Neonatal Abstinence Syndrome 40 0.424
666
P MTH008 Methylmalonic Acidemia 52 0.424
667
P CRN035 Cranial Nerve Palsy 42 0.424
668
TXC001 Toxic Megacolon 37 0.424
669
P EPL164 Epilepsy 68 0.424
670
P CHR012 Chronic Granulomatous Disease 69 0.424
671
P SYP003 Syphilis 59 0.424
672
LNG039 Lung Squamous Cell Carcinoma 57 0.424
673
CMP064 Complement Component 3 Deficiency 35 0.424
674
c SBC007 Subacute Thyroiditis 43 0.424
675
PRP016 Paraplegia 52 0.424
676
CMP009 Complement Deficiency 40 0.424
677
c LCL006 Localized Scleroderma 65 0.424
678
INT071 Intestinal Perforation 49 0.424
679
SPP007 Suppression Amblyopia 38 0.424
680
AMB002 Amblyopia 50 0.424
681
CHL147 Chlamydia Pneumonia 47 0.424
682
THY006 Thymus Lymphoma 27 0.424
683
AMY003 Amyotrophic Neuralgia 41 0.424
684
DNG003 Dengue Disease 65 0.424
685
GTR002 Goiter 53 0.424
686
P SPN046 Spinal Muscular Atrophy 63 0.424
687
CNS004 Constipation 56 0.424
688
P WST004 West Nile Encephalitis 44 0.424
689
P HYP069 Hyperparathyroidism 62 0.424
690
P NPH012 Nephrotic Syndrome 60 0.424
691
P ANG015 Angioedema 56 0.424
692
P HMR003 Hemorrhagic Disease 59 0.424
693
PRT012 Prothrombin Deficiency 49 0.424
694
P HPT021 Hepatitis 69 0.424
695
P PRR002 Pure Red-Cell Aplasia 47 0.424
696
OPT003 Opiate Dependence 49 0.424
697
CHL123 Chlamydia 58 0.424
698
GRD001 Giardiasis 46 0.424
699
STL001 St. Louis Encephalitis 38 0.424
700
c PRM005 Primary Hyperparathyroidism 59 0.424
701
P RHN004 Rhinitis 57 0.424
702
c CNT035 Central Nervous System Disease 54 0.424
703
P THR015 Thrombophilia 51 0.424
704
DRM006 Dermatitis 62 0.424
705
DMY004 Demyelinating Disease 50 0.424
706
MGC001 Megacolon 48 0.424
707
LCH001 Leech Infestation 38 0.424
708
P HRD011 Hereditary Spherocytosis 64 0.424
709
LPT001 Leptospirosis 66 0.424
710
P CMP008 Compartment Syndrome 50 0.424
711
ISL099 Isolated Methylmalonic Acidemia 36 0.424
714
c ACQ012 Acquired Angioedema 38 0.424
715
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39 0.424
716
P MTC069 Mitochondrial Disorders 57 0.424
717
MYT011 Myotonia 39 0.424
718
WST009 West Nile Virus Encephalitis 16 0.424
719
P MYC033 Myoclonus 47 0.424
720
CHR178 Chromosomal Triplication 34 0.424
721
LYM019 Lymphosarcoma 46 0.424
722
P MYC026 Myoclonus Epilepsy 35 0.424
723
CLD007 Cold Agglutinin Disease 42 0.424
Content
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