Search results for c1s

873 hits were found for c1s

# Family MCID Name MIFTS Score
1
CMP091 Complement Component C1s Deficiency 23 15.915
2
c HRD002 Hereditary Angioedema 60 13.432
3
C1N001 C1 Inhibitor Deficiency 39 9.441
4
P HRD209 Hereditary Angioedema with Normal C1inh 31 8.348
5
c NMN015 Niemann-Pick Disease, Type C1 68 8.054
6
c ACQ012 Acquired Angioedema 38 6.430
7
c ANG045 Angioedema, Hereditary, Type Iii 31 6.236
8
IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 20 5.945
9
c ANG068 Angioedema, Hereditary, Type I 57 4.894
10
P ANG015 Angioedema 57 4.676
11
c SYS001 Systemic Lupus Erythematosus 86 4.483
12
c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33 4.454
13
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49 4.403
14
P LPS004 Lupus Erythematosus 61 3.697
15
P EHL001 Ehlers-Danlos Syndrome 58 3.585
16
P URT039 Urticaria 58 3.249
17
TXC005 Toxic Shock Syndrome 62 3.219
18
ANG049 Angioedema Induced by Ace Inhibitors 40 3.194
19
P GLM007 Glomerulonephritis 57 3.185
20
P VSC011 Vasculitis 62 3.154
21
P MYC007 Myocardial Infarction 70 3.136
22
HRD208 Hereditary Angioedema with C1inh Deficiency 8 3.122
23
CMP040 Complement Component 4, Partial Deficiency of 33 2.974
24
CPL003 Capillary Leak Syndrome 55 2.618
25
c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39 2.610
26
MRG003 Marginal Zone B-Cell Lymphoma 52 2.592
27
P PRD037 Periodontal Ehlers-Danlos Syndrome 45 2.592
29
GNG003 Gingival Recession 44 2.501
30
ACQ052 Acquired Angioedema with C1inh Deficiency 5 2.195
33
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 1.979
34
CMP009 Complement Deficiency 41 1.839
35
c ANM038 Anemia, Autoimmune Hemolytic 62 1.826
36
3MC003 3mc Syndrome 46 1.792
37
MCR037 Macroglossia 45 1.792
38
CMP007 Complement Component 5 Deficiency 42 1.792
39
CNG016 Congenital Intrinsic Factor Deficiency 34 1.792
40
CMP064 Complement Component 3 Deficiency 34 1.792
41
P HML033 Hemolytic Uremic Syndrome, Atypical 1 68 1.769
42
OSS012 Osseous Heteroplasia, Progressive 61 1.769
43
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 59 1.769
44
P DXT004 Dextro-Looped Transposition of the Great Arteries 54 1.769
45
INT258 Interstitial Nephritis, Karyomegalic 44 1.769
46
FML345 Familial Expansile Osteolysis 43 1.769
47
CRL004 Caroli Disease 39 1.769
48
STR077 Streptococcal Toxic-Shock Syndrome 37 1.769
49
VLV018 Vulvar Angiokeratoma 26 1.769
50
P NMN002 Niemann-Pick Disease 59 0.282
51
c NMN014 Niemann-Pick Disease, Type C2 51 0.178
52
LYS002 Lysosomal Storage Disease 52 0.145
53
OCC008 Occipital Neuralgia 25 0.130
54
ISC004 Ischemia 58 0.117
55
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.110
56
c PRM038 Primary Agammaglobulinemia 44 0.106
57
P LYM118 Lymphoma 68 0.099
58
ATM095 Autoimmune Disease 62 0.099
59
DYS073 Dysphagia 50 0.099
60
P ALZ034 Alzheimer Disease 88 0.094
61
P HRP006 Herpes Simplex 65 0.094
62
FDB001 Foodborne Botulism 55 0.094
63
P KDN018 Kidney Disease 72 0.090
64
ADL002 Adult Syndrome 70 0.090
65
P TRN020 Turner Syndrome 67 0.090
66
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.090
67
c NMN013 Niemann-Pick Disease, Type a 62 0.090
68
P LYM033 Lymphoproliferative Syndrome 59 0.090
69
HLX001 Helix Syndrome 47 0.090
70
P HPT021 Hepatitis 67 0.085
71
TTN003 Tetanus 65 0.085
72
P HMP007 Hemophilia 51 0.085
73
ACD003 Acid Sphingomyelinase Deficiency 32 0.085
74
CRH001 Crohn's Disease 74 0.080
75
c HYP836 Hypercholesterolemia, Familial, 1 73 0.080
76
P NRB001 Neuroblastoma 72 0.080
77
P ART022 Arthritis 69 0.080
78
LYM133 Lymphoma, Hodgkin, Classic 69 0.080
79
c HMP029 Hemophilia a 67 0.080
80
PRT037 Pertussis 65 0.080
81
c HPT016 Hepatitis B 59 0.080
82
c NMN016 Niemann-Pick Disease, Type B 58 0.080
83
END086 End Stage Renal Disease 51 0.080
84
BNR002 Bone Resorption Disease 48 0.080
85
ATS010 Autosomal Recessive Disease 48 0.080
86
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.075
87
P RHM011 Rheumatoid Arthritis 80 0.075
88
PCK003 Pick Disease of Brain 68 0.075
89
P FRN006 Frontotemporal Dementia 68 0.075
90
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.075
91
P HML002 Hemolytic Anemia 63 0.075
92
SPN186 Spinal Cord Injury 60 0.075
93
CHL014 Cholera 59 0.075
94
SPL018 Splenomegaly 48 0.075
95
P SYR001 Syringomyelia 44 0.075
96
SYR010 Syringomyelia, Noncommunicating Isolated 37 0.075
97
NNH013 Non-Histaminic Angioedema 29 0.075
98
CRV035 Cervical Cancer 76 0.070
99
P HRT032 Heart Disease 75 0.070
100
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.070
101
HMN044 Human Immunodeficiency Virus Type 1 71 0.070
102
P HYP061 Hypertrophic Cardiomyopathy 70 0.070
103
CNG034 Congestive Heart Failure 69 0.070
104
SPN027 Spinal Stenosis 59 0.070
105
P BCL017 B-Cell Lymphoma 58 0.070
106
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 54 0.070
107
PLM010 Pulmonary Edema 54 0.070
108
SPL004 Splenic Marginal Zone Lymphoma 51 0.070
109
P TRT019 Torticollis 48 0.070
110
CLD007 Cold Agglutinin Disease 45 0.070
111
CYT002 Cytokine Deficiency 42 0.070
112
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.070
113
MYL069 Myeloma, Multiple 85 0.064
114
P LKM071 Leukemia, Chronic Lymphocytic 79 0.064
115
IMM167 Immune Deficiency Disease 78 0.064
116
OST012 Osteoarthritis 78 0.064
117
P MLT020 Multiple Sclerosis 72 0.064
118
c CHR684 Chronic Kidney Disease 70 0.064
119
P MLN008 Melanoma 69 0.064
120
P LVR013 Liver Disease 68 0.064
121
P DMN002 Dementia 66 0.064
122
HYP056 Hypoglycemia 66 0.064
123
P HYD006 Hydrocephalus 66 0.064
124
P DRM053 Dermatitis, Atopic 66 0.064
125
ATH013 Atherosclerosis Susceptibility 65 0.064
126
c SVR001 Severe Acute Respiratory Syndrome 62 0.064
127
SQM006 Squamous Cell Carcinoma 60 0.064
128
P DRR001 Diarrhea 55 0.064
129
LPD009 Lipid Storage Disease 46 0.064
130
HSD004 Hsd10 Mitochondrial Disease 44 0.064
131
ANR009 Aneurysmal Bone Cysts 43 0.064
132
C1Q001 C1q Deficiency 42 0.064
133
48X005 48,xyyy 39 0.064
134
P HPT023 Hepatocellular Carcinoma 100 0.057
135
P CLR023 Colorectal Cancer 99 0.057
136
P LNG032 Lung Cancer 98 0.057
137
P PRS040 Prostate Cancer 97 0.057
138
CYS001 Cystic Fibrosis 81 0.057
139
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.057
140
c HPT073 Hepatitis C Virus 72 0.057
141
P SLP006 Sleep Apnea 69 0.057
142
P LKM062 Leukemia, Acute Lymphoblastic 69 0.057
143
P PNM007 Pneumonia 68 0.057
144
KHL003 Kohlschutter-Tonz Syndrome 65 0.057
145
P DYS154 Dystonia 65 0.057
146
P ADL010 Adult Respiratory Distress Syndrome 65 0.057
147
P PRD008 Periodontitis 64 0.057
148
LVR012 Liver Cirrhosis 62 0.057
149
DRM006 Dermatitis 61 0.057
150
c ACT027 Acute Pancreatitis 60 0.057
151
c ACT071 Acute Kidney Failure 60 0.057
152
P AXN002 Axenfeld-Rieger Syndrome 59 0.057
153
ANR040 Aneurysm 59 0.057
154
NWB001 Newborn Respiratory Distress Syndrome 58 0.057
155
NNT012 Neonatal Jaundice 53 0.057
156
MYL001 Myelitis 51 0.057
157
STM007 Stomatitis 50 0.057
158
QDR001 Quadriplegia 48 0.057
159
CRY004 Cryoglobulinemia 48 0.057
160
LYM019 Lymphosarcoma 46 0.057
161
P OST028 Osteochondroma 45 0.057
162
CVD001 Covid-19 44 0.057
163
P CHR342 Chiari Malformation 41 0.057
164
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.057
165
PLY150 Polykaryocytosis Inducer 31 0.057
166
VRT001 Vertebral Artery Occlusion 30 0.057
167
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.057
168
P BRS047 Breast Cancer 97 0.049
169
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 0.049
170
P BLD134 Bladder Cancer 79 0.049
171
AST005 Asthma 76 0.049
172
P RSP003 Respiratory Failure 74 0.049
173
P OST002 Osteoporosis 74 0.049
174
c MNN043 Meningioma, Familial 74 0.049
175
c SPN225 Spondyloarthropathy 1 73 0.049
176
P RTN024 Retinoblastoma 73 0.049
177
OTT002 Otitis Media 72 0.049
178
WLS001 Wilson Disease 71 0.049
179
P ANG001 Angelman Syndrome 69 0.049
180
CMM004 Common Variable Immunodeficiency 68 0.049
181
P THR014 Thrombocytopenia 67 0.049
182
c RHB024 Rhabdomyosarcoma 2 67 0.049
183
P MSC005 Muscular Dystrophy 66 0.049
184
P NRV007 Nervous System Disease 66 0.049
185
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 65 0.049
186
PRT036 Peritonitis 64 0.049
187
KRN002 Kearns-Sayre Syndrome 63 0.049
188
c HPT001 Hepatitis C 62 0.049
189
P PSR002 Psoriasis 62 0.049
190
P TRC086 Trichohepatoenteric Syndrome 1 62 0.049
191
ALL026 Allergic Hypersensitivity Disease 62 0.049
192
MNN042 Meningioma, Radiation-Induced 62 0.049
193
CHL068 Cholestasis 61 0.049
194
NRM001 Neuromyelitis Optica 61 0.049
195
HYP066 Hyperglycemia 61 0.049
196
P PNC044 Pancreatitis 61 0.049
197
P SJG008 Sjogren Syndrome 61 0.049
198
NRL005 Neurilemmoma 60 0.049
199
P NPH012 Nephrotic Syndrome 60 0.049
200
GST045 Gastroenteritis 59 0.049
201
CHR072 Chordoma 58 0.049
202
c DWL002 Dowling-Degos Disease 1 58 0.049
203
P OPT009 Optic Neuritis 57 0.049
204
P EXN002 Exanthem 57 0.049
205
DSS009 Disseminated Intravascular Coagulation 57 0.049
206
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 57 0.049
207
P PRN023 Prion Disease 57 0.049
208
APH002 Aphasia 57 0.049
209
HYP266 Hypoxia 57 0.049
210
P CHN012 Chondrosarcoma 56 0.049
211
c LKM060 Leukemia, Acute Lymphoblastic 3 56 0.049
212
c ACT134 Acute Liver Failure 56 0.049
213
P NRP001 Neuropathy 56 0.049
214
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.049
216
HMP005 Hemiplegia 55 0.049
217
SYN007 Synovitis 54 0.049
218
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.049
219
THR013 Thoracic Outlet Syndrome 54 0.049
220
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 0.049
221
GSG001 Gas Gangrene 53 0.049
222
c FML008 Familial Retinoblastoma 53 0.049
223
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.049
224
DMY004 Demyelinating Disease 52 0.049
225
NRT004 Neuritis 52 0.049
226
PST011 Pustulosis of Palm and Sole 52 0.049
227
SPN021 Spinal Meningioma 50 0.049
228
P MYT002 Myotonic Dystrophy 49 0.049
229
BRN071 Brain Injury 49 0.049
230
EXS001 Exostosis 46 0.049
231
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 46 0.049
232
P KLP003 Klippel-Feil Syndrome 46 0.049
233
P TRN034 Transverse Myelitis 45 0.049
234
MLK003 Melkersson-Rosenthal Syndrome 45 0.049
235
SPS057 Spasticity 45 0.049
236
SCR001 Secretory Meningioma 41 0.049
237
HRW001 Hair Whorl 36 0.049
238
PLC002 Plica Syndrome 36 0.049
239
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.049
240
CRB079 Cerebrospinal Fluid Leak 35 0.049
241
ARG004 Argyria 27 0.049
242
FRN030 Frontotemporal Dementia with Parkinsonism-17 24 0.049
243
P RRN010 Rare Neurodegenerative Disease 20 0.049
244
CMP086 Complement Component C1r/c1s Deficiency 15 0.049
245
P PRK057 Parkinson Disease, Late-Onset 78 0.040
246
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.040
247
GLB015 Glioblastoma Multiforme 75 0.040
248
END057 Endometrial Cancer 74 0.040
249
c THR092 Thrombophilia Due to Thrombin Defect 73 0.040
250
ANX010 Anxiety 73 0.040
251
P EPL164 Epilepsy 71 0.040
252
DFC004 Deficiency Anemia 70 0.040
253
DWN001 Down Syndrome 70 0.040
254
c GCH015 Gaucher Disease, Type I 70 0.040
255
CRB037 Cerebral Palsy 69 0.040
256
P MYC084 Mycobacterium Tuberculosis 1 68 0.040
257
P LKM002 Leukemia 68 0.040
258
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68 0.040
259
P FLL037 Follicular Lymphoma 67 0.040
260
c MGR028 Migraine with or Without Aura 1 67 0.040
261
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.040
262
OST159 Osteogenic Sarcoma 66 0.040
263
c FML021 Familial Hypercholesterolemia 66 0.040
264
P NSP012 Nasopharyngeal Carcinoma 66 0.040
265
P EPD009 Epidermolysis Bullosa Dystrophica 66 0.040
266
AND002 Androgen Insensitivity Syndrome 66 0.040
267
P PLM036 Pulmonary Fibrosis 65 0.040
268
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.040
269
ACR006 Aceruloplasminemia 65 0.040
270
BRR014 Barrett Esophagus 65 0.040
271
LYS012 Lysosomal Acid Lipase Deficiency 65 0.040
272
OST017 Osteomyelitis 64 0.040
273
P GLM045 Glioma 63 0.040
274
P GCH001 Gaucher's Disease 63 0.040
275
P ANR048 Aniridia 1 63 0.040
276
P BLD124 Bleeding Disorder, Platelet-Type, 11 63 0.040
277
c MLG084 Malignant Fibrous Histiocytoma 63 0.040
278
P CRN300 Coronary Heart Disease 1 63 0.040
279
SKN016 Skin Disease 63 0.040
280
P MVM001 Movement Disease 63 0.040
281
ANR007 Anorexia Nervosa 63 0.040
282
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.040
283
LPD008 Lipid Metabolism Disorder 62 0.040
284
P ACR001 Aicardi-Goutieres Syndrome 62 0.040
285
P PRM006 Primary Biliary Cirrhosis 62 0.040
286
P DRM010 Dermatomyositis 61 0.040
287
P SCL018 Scoliosis 60 0.040
288
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.040
289
ACN002 Acanthosis Nigricans 60 0.040
290
ACQ007 Acquired Immunodeficiency Syndrome 60 0.040
291
LNG099 Lung Disease 60 0.040
292
P SNS001 Sensorineural Hearing Loss 60 0.040
293
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.040
294
VSL002 Visual Epilepsy 59 0.040
295
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.040
296
FBR047 Fibromyalgia 58 0.040
297
P ALC033 Alcohol Use Disorder 58 0.040
298
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.040
299
CRV038 Cervical Squamous Cell Carcinoma 58 0.040
300
MCR013 Microphthalmia 57 0.040
301
P HDC001 Headache 57 0.040
302
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.040
303
FCT006 Factor V Deficiency 57 0.040
304
CHR177 Chromophobe Renal Cell Carcinoma 57 0.040
305
PLS011 Plasmacytoma 56 0.040
306
P SZR006 Seizure Disorder 56 0.040
307
MTH009 Mouth Disease 56 0.040
308
EMB004 Embryonal Carcinoma 56 0.040
309
AGN016 Aging 56 0.040
310
c FML035 Familial Hyperlipidemia 55 0.040
311
LMB062 Limb Ischemia 55 0.040
312
P ANT006 Antiphospholipid Syndrome 55 0.040
313
HMZ003 Homozygous Familial Hypercholesterolemia 55 0.040
314
P SLM003 Salmonellosis 55 0.040
315
P STS003 Sitosterolemia 54 0.040
316
P INF037 Inflammatory Bowel Disease 54 0.040
317
P TRM003 Tremor 54 0.040
318
RCS002 Recessive Dystrophic Epidermolysis Bullosa 54 0.040
319
P EPD016 Epidermolysis Bullosa 53 0.040
320
P RNL017 Renal Oncocytoma 53 0.040
321
ECH003 Echinococcosis 53 0.040
322
P PLM006 Pulmonary Alveolar Proteinosis 53 0.040
323
INT075 Intracranial Hypertension 53 0.040
324
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.040
325
P THY032 Thyroiditis 52 0.040
326
OCL069 Ocular Motor Apraxia 51 0.040
327
FDL002 Food Allergy 51 0.040
328
KRT009 Keratosis 51 0.040
329
ANK001 Ankylosis 51 0.040
330
CLR109 Colorectal Adenocarcinoma 51 0.040
331
P PRC012 Pericardial Effusion 51 0.040
332
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.040
333
HYP081 Hypolipoproteinemia 51 0.040
334
HMG002 Hemoglobinuria 50 0.040
335
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.040
336
47X002 47,xyy 49 0.040
337
MCR004 Macroglobulinemia 49 0.040
338
OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 49 0.040
339
EBL001 Ebola Hemorrhagic Fever 49 0.040
340
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.040
341
CYS002 Cystic Lymphangioma 48 0.040
342
P MCL001 Mucolipidosis 48 0.040
343
HMP001 Hemopericardium 48 0.040
344
ART004 Aortic Atherosclerosis 47 0.040
345
c SPN105 Spinocerebellar Ataxia 4 47 0.040
346
c INH020 Inherited Metabolic Disorder 47 0.040
347
RTN023 Retinitis 46 0.040
348
LCK001 Locked-in Syndrome 46 0.040
349
FCL012 Facial Paralysis 46 0.040
350
c CHR320 Chiari Malformation Type I 46 0.040
351
HDN002 Head Injury 46 0.040
352
GLL048 Glial Tumor 45 0.040
353
TRT001 Teratocarcinoma 45 0.040
354
IMM003 Immunoglobulin Alpha Deficiency 45 0.040
355
P CHR345 Chronic Pain 44 0.040
356
P PRL003 Proliferative Glomerulonephritis 44 0.040
357
P ATX024 Ataxia-Oculomotor Apraxia 3 44 0.040
358
HPT082 Hepatic Adenomas, Familial 44 0.040
359
FBR054 Fibroma 44 0.040
360
ORL015 Oral Squamous Cell Carcinoma 43 0.040
361
P HYP265 Hypotonia 43 0.040
362
P CRN035 Cranial Nerve Palsy 42 0.040
363
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 42 0.040
364
NRR001 Neuroretinitis 42 0.040
365
PRS063 Paresthesia 41 0.040
366
PCD001 Pica Disease 41 0.040
367
WLL004 Wallerian Degeneration 39 0.040
368
ADP007 Adie Pupil 39 0.040
369
c CHR682 Chronic Bilirubin Encephalopathy 39 0.040
370
P DVL012 Developmental Dysplasia of the Hip 1 38 0.040
371
c SYS043 Systemic Lupus Erythematosus 1 38 0.040
372
ATM052 Autoimmune Disease 1 37 0.040
373
SPN331 Spondyloocular Syndrome 36 0.040
374
END072 Endotheliitis 35 0.040
375
ATX010 Ataxia Neuropathy Spectrum 34 0.040
376
ALR002 Al-Raqad Syndrome 33 0.040
377
ACT064 Acute Necrotizing Encephalitis 33 0.040
378
c BLD140 Blood Group, I System 32 0.040
379
MTY003 Mutyh Polyposis 30 0.040
380
BSL004 Basilar Artery Occlusion 29 0.040
381
MYC088 Mycobacterium Avium Complex Infections 29 0.040
382
MNC004 Monoclonal Paraproteinemia 28 0.040
383
LYS029 Lysosomal Disease 28 0.040
384
P FRM004 Foramen Magnum Meningioma 28 0.040
385
FSH003 Fish Allergy 28 0.040
386
HNM002 Hinman Syndrome 27 0.040
387
BLD163 Blood Group, Dombrock System 24 0.040
388
BLD165 Blood Group, Colton System 20 0.040
389
AND005 Androgen Insensitivity Syndrome, Mild 19 0.040
390
OBN001 Ouabain Resistance 18 0.040
391
BLD137 Blood Group--Ahonen 16 0.040
392
ATL006 Atlanto-Axial Fusion 13 0.040
393
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.028
394
c LKM061 Leukemia, Acute Myeloid 84 0.028
395
P PNC035 Pancreatic Cancer 84 0.028
396
P GST053 Gastric Cancer 83 0.028
397
NRL016 Neural Tube Defects 82 0.028
398
P ATX030 Ataxia-Telangiectasia 82 0.028
399
P RTT002 Rett Syndrome 80 0.028
400
c TBR025 Tuberous Sclerosis 1 77 0.028
401
PLM134 Pulmonary Fibrosis, Idiopathic 77 0.028
402
P NNN008 Noonan Syndrome 1 76 0.028
403
c ATR087 Atrial Standstill 1 75 0.028
404
BRN028 Brain Cancer 74 0.028
405
P SCH015 Schizophrenia 74 0.028
406
c HMC039 Hemochromatosis, Type 1 74 0.028
407
ULC004 Ulcerative Colitis 73 0.028
408
P CNR004 Cone-Rod Dystrophy 2 73 0.028
409
P FML018 Familial Mediterranean Fever 73 0.028
410
P HYP724 Hyperlipoproteinemia, Type Iii 73 0.028
411
MSC157 Muscular Dystrophy, Duchenne Type 72 0.028
412
P FML011 Familial Adenomatous Polyposis 72 0.028
413
P GRF003 Graft-Versus-Host Disease 72 0.028
414
FBR012 Fabry Disease 72 0.028
415
c LKM063 Leukemia, Chronic Myeloid 72 0.028
416
P SRC025 Sarcoidosis 1 70 0.028
417
MYL009 Myelodysplastic Syndrome 70 0.028
418
APR006 Apert Syndrome 70 0.028
419
MYL005 Myelofibrosis 70 0.028
420
LGH007 Leigh Syndrome 70 0.028
421
P OST001 Osteopetrosis 70 0.028
422
c PNC108 Pancreatitis, Hereditary 70 0.028
423
P MYP004 Myopathy 70 0.028
424
P TBR001 Tuberous Sclerosis 70 0.028
425
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.028
426
P KRB001 Krabbe Disease 69 0.028
427
P RTH006 Rothmund-Thomson Syndrome, Type 2 69 0.028
428
ACR008 Acrocallosal Syndrome 69 0.028
429
P MCP040 Mucopolysaccharidosis-Plus Syndrome 69 0.028
430
P TYS001 Tay-Sachs Disease 69 0.028
431
ART016 Aortic Aneurysm 69 0.028
432
MNT001 Mantle Cell Lymphoma 69 0.028
433
c MYT021 Myotonic Dystrophy 1 69 0.028
434
P SPR120 Supranuclear Palsy, Progressive, 1 68 0.028
435
P SYS005 Systemic Scleroderma 68 0.028
436
CHL065 Cholangiocarcinoma 68 0.028
437
SND001 Sandhoff Disease 68 0.028
438
BRN024 Bronchitis 68 0.028
439
CNN005 Connective Tissue Disease 68 0.028
440
MLD001 Melioidosis 68 0.028
441
PNC129 Pancreatic Adenocarcinoma 68 0.028
442
c MCL062 Mucolipidosis Ii Alpha/beta 68 0.028
443
CHR103 Charge Syndrome 67 0.028
444
c PRD013 Periodic Fever, Familial, Autosomal Dominant 67 0.028
445
P HYP098 Hypereosinophilic Syndrome 67 0.028
446
LPT001 Leptospirosis 66 0.028
447
P CLC063 Celiac Disease 1 66 0.028
448
ART001 Arterial Tortuosity Syndrome 66 0.028
449
c FML346 Familial Adenomatous Polyposis 1 66 0.028
450
ACH004 Achondroplasia 66 0.028
451
c DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.028
453
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 66 0.028
454
CHG001 Chagas Disease 66 0.028
455
P MNN013 Meningitis 66 0.028
456
c MCL013 Mucolipidosis Iv 66 0.028
457
c SML038 Small Cell Cancer of the Lung 65 0.028
458
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.028
459
P ART005 Arteriovenous Malformation 65 0.028
460
DMN031 Dementia, Lewy Body 65 0.028
461
PPL049 Papillon-Lefevre Syndrome 65 0.028
462
TNG002 Tangier Disease 65 0.028
463
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 65 0.028
464
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.028
465
IRR002 Irritable Bowel Syndrome 65 0.028
466
P PRS038 Personality Disorder 65 0.028
467
c DBT099 Diabetes Mellitus, Type I 65 0.028
468
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.028
469
P DBT009 Diabetes Mellitus 64 0.028
470
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.028
471
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 0.028
472
PLL001 Pallister-Hall Syndrome 64 0.028
473
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.028
474
P HRM001 Hermansky-Pudlak Syndrome 64 0.028
475
c JVN010 Juvenile Rheumatoid Arthritis 64 0.028
476
GT001 Gout 64 0.028
477
BRC012 Brucellosis 64 0.028
478
ART002 Arts Syndrome 64 0.028
479
DGR001 Digeorge Syndrome 64 0.028
480
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.028
481
P ADN016 Adenocarcinoma 64 0.028
482
LYM017 Lyme Disease 64 0.028
483
INC021 Incontinentia Pigmenti 63 0.028
484
P NTR004 Neutropenia 63 0.028
485
TYP007 Typhoid Fever 63 0.028
486
P VSC007 Vascular Disease 63 0.028
487
P DST002 Distal Arthrogryposis 63 0.028
488
ACT119 Acute Promyelocytic Leukemia 63 0.028
489
P SHR029 Short Syndrome 63 0.028
490
P PTT014 Pitt-Hopkins Syndrome 63 0.028
491
c ACT068 Acute Cystitis 63 0.028
492
P END044 Endometriosis 63 0.028
493
c ATM011 Autoimmune Hepatitis 63 0.028
494
c FNC043 Fanconi Anemia, Complementation Group E 62 0.028
495
P PLY014 Polycystic Kidney Disease 62 0.028
496
c GM1007 Gm1 Gangliosidosis 62 0.028
497
c BRN108 Branchiootic Syndrome 1 62 0.028
498
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.028
499
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 62 0.028
500
LPP008 Lipoprotein Quantitative Trait Locus 62 0.028
501
P HYP750 Hypertriglyceridemia, Familial 62 0.028
502
P ESP024 Esophagitis 62 0.028
503
P ART023 Arthropathy 62 0.028
504
HYD038 Hydrops Fetalis, Nonimmune 62 0.028
505
NRM019 Neuraminidase Deficiency 62 0.028
506
ASP002 Aspartylglucosaminuria 62 0.028
507
NTR005 Nutritional Deficiency Disease 62 0.028
508
PSR001 Psoriatic Arthritis 61 0.028
509
OST003 Osteonecrosis 61 0.028
510
c PNS012 Paine Syndrome 61 0.028
511
c SCL052 Scleroderma, Familial Progressive 61 0.028
512
P ENC018 Encephalopathy 61 0.028
513
WLD007 Waldenstroem's Macroglobulinemia 61 0.028
514
GST033 Gestational Diabetes 61 0.028
515
VRL011 Viral Infectious Disease 61 0.028
516
APP008 Appendicitis 61 0.028
517
P HMN010 Hemangioma 61 0.028
518
P MYL006 Myeloid Leukemia 60 0.028
519
c LPM012 Lipomatosis, Multiple 60 0.028
520
P BNG030 Benign Ependymoma 60 0.028
521
INT066 Interstitial Lung Disease 60 0.028
522
P VNT002 Ventricular Septal Defect 60 0.028
523
VRC005 Varicose Veins 60 0.028
524
INS001 Insulinoma 60 0.028
525
STT001 Status Epilepticus 60 0.028
526
P THL005 Thalassemia 60 0.028
527
FCT002 Factor Xi Deficiency 60 0.028
528
NLP001 Nail-Patella Syndrome 60 0.028
529
P MYC008 Myocarditis 59 0.028
530
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.028
531
P BND020 Bone Disease 59 0.028
532
P SLP005 Sleep Disorder 59 0.028
533
PLM033 Pulmonary Embolism 59 0.028
534
DCT002 Ductal Carcinoma in Situ 59 0.028
535
FRB001 Farber Lipogranulomatosis 59 0.028
536
c MCP044 Mucopolysaccharidosis, Type Iiib 59 0.028
537
CSY001 C Syndrome 58 0.028
538
ANT024 Anthrax Disease 58 0.028
539
RBS001 Rabies 58 0.028
540
SPT004 Septic Arthritis 58 0.028
541
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.028
542
P CND004 Candidiasis 58 0.028
543
EXT034 Extrinsic Allergic Alveolitis 58 0.028
544
P PRP019 Peripheral Nervous System Disease 58 0.028
545
P VND007 Van Der Woude Syndrome 1 58 0.028
546
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 0.028
547
IRN002 Iron Metabolism Disease 57 0.028
548
MNR012 Meniere Disease 57 0.028
549
APH001 Aphthous Stomatitis 57 0.028
550
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.028
551
P PRV006 Pervasive Developmental Disorder 57 0.028
552
INT303 Intracranial Hypertension, Idiopathic 57 0.028
553
PHR003 Pharyngitis 57 0.028
554
PGM001 Pigmented Villonodular Synovitis 56 0.028
555
P BPL003 Bipolar Disorder 56 0.028
556
P MYS005 Myositis 56 0.028
557
P FBR017 Fibrosarcoma 56 0.028
558
ALL006 Allergic Asthma 56 0.028
559
ERY051 Erythroleukemia, Familial 56 0.028
560
BCT022 Bacterial Infectious Disease 56 0.028
561
ACS001 Acoustic Neuroma 56 0.028
562
CYS008 Cystic Echinococcosis 56 0.028
563
MLT135 Multiple Sulfatase Deficiency 56 0.028
564
P NRF002 Neurofibromatosis 56 0.028
565
c GLY005 Glycogen Storage Disease Vi 56 0.028
566
BRN004 Brain Edema 56 0.028
567
AND020 Androgen Insensitivity, Partial 56 0.028
568
P GST044 Gastritis 56 0.028
569
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 55 0.028
570
MMB001 Membranoproliferative Glomerulonephritis 55 0.028
571
P MLN007 Male Infertility 55 0.028
572
DFF005 Diffuse Large B-Cell Lymphoma 55 0.028
573
P DYS193 Dystonia 11, Myoclonic 55 0.028
574
P ALP106 Alport Syndrome 1, X-Linked 55 0.028
575
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 55 0.028
576
P DBT005 Diabetes Insipidus 55 0.028
577
P FNG006 Feingold Syndrome 1 55 0.028
578
FCT004 Factor Xii Deficiency 55 0.028
579
FLT006 Floating-Harbor Syndrome 55 0.028
580
PRP030 Purpura 54 0.028
581
VGN023 Vaginitis 54 0.028
582
P EPS030 Episodic Kinesigenic Dyskinesia 1 54 0.028
583
RFL001 Reflex Sympathetic Dystrophy 54 0.028
584
P HMP002 Hemophagocytic Lymphohistiocytosis 54 0.028
585
CRY003 Cryptosporidiosis 54 0.028
586
CLL010 Cellular Ependymoma 54 0.028
587
HMS001 Hemosiderosis 54 0.028
588
PPL022 Papilloma 54 0.028
589
CLL003 Cellulitis 54 0.028
590
PNC001 Pancytopenia 54 0.028
591
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.028
592
P INS002 in Situ Carcinoma 53 0.028
593
CRH005 Crohn's Colitis 53 0.028
594
P RTN016 Retinal Degeneration 53 0.028
595
MST005 Mastitis 53 0.028
596
P HML001 Hemolytic-Uremic Syndrome 53 0.028
597
c GCH016 Gaucher Disease, Type Ii 53 0.028
598
P ACT008 Actinic Keratosis 53 0.028
599
IRD001 Iridocyclitis 53 0.028
600
INT051 Intussusception 53 0.028
601
P LMB006 Limb-Girdle Muscular Dystrophy 53 0.028
602
c HPT007 Hepatitis E 53 0.028
603
c GLL024 Gallbladder Disease 1 53 0.028
604
c CNT035 Central Nervous System Disease 52 0.028
605
ANG046 Angioimmunoblastic T-Cell Lymphoma 52 0.028
606
P LRY019 Laryngitis 52 0.028
607
MCN017 Meconium Ileus 52 0.028
608
PRP016 Paraplegia 52 0.028
609
P CHN059 Chondrocalcinosis 52 0.028
610
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.028
611
SCH002 Schnitzler Syndrome 52 0.028
612
ART140 Arteries, Anomalies of 52 0.028
613
P MSC003 Muscular Atrophy 52 0.028
614
P NRC002 Narcolepsy 52 0.028
615
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.028
616
c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 52 0.028
617
THR009 Thrombocytopenia-Absent Radius Syndrome 52 0.028
618
c ACT135 Acute Graft Versus Host Disease 52 0.028
619
P TRT010 Teratoma 52 0.028
620
PNG002 Pain Agnosia 51 0.028
621
SPN051 Spondylitis 51 0.028
622
SPS003 Spastic Diplegia 51 0.028
623
P SPP010 Suppressor of Tumorigenicity 3 51 0.028
624
FCT001 Factor Viii Deficiency 51 0.028
625
c SCN036 Secondary Progressive Multiple Sclerosis 51 0.028
626
ALK024 Alkuraya-Kucinskas Syndrome 51 0.028
627
PLS009 Plasma Cell Neoplasm 51 0.028
628
MLL018 Miller-Dieker Lissencephaly Syndrome 51 0.028
629
ILS001 Ileus 51 0.028
630
P LCT001 Lactic Acidosis 51 0.028
631
THR016 Thrombophlebitis 51 0.028
632
INT079 Intrahepatic Cholangiocarcinoma 51 0.028
633
LNG031 Lung Benign Neoplasm 51 0.028
634
TRM010 Traumatic Brain Injury 51 0.028
635
CLB002 Clubfoot 51 0.028
636
SPN019 Spondylolisthesis 51 0.028
637
c BRS049 Breast Carcinoma in Situ 51 0.028
638
HND002 Hand, Foot and Mouth Disease 51 0.028
639
PNN001 Panniculitis 51 0.028
640
HYP074 Hypersensitivity Vasculitis 51 0.028
641
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.028
642
RLP003 Relapsing Fever 51 0.028
643
LPD016 Lipoid Proteinosis of Urbach and Wiethe 50 0.028
644
SMT006 Somatoform Disorder 50 0.028
645
HNT002 Hantavirus Pulmonary Syndrome 50 0.028
646
P SCK005 Sickle Cell Disease 50 0.028
647
c INF145 Infantile Liver Failure Syndrome 1 50 0.028
648
PLC008 Placenta Disease 50 0.028
649
MTB004 Metabolic Acidosis 50 0.028
650
BLR001 Biliary Atresia 50 0.028
651
HYP748 Hypertelorism 50 0.028
652
c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 50 0.028
653
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 50 0.028
654
P CRY007 Cryoglobulinemia, Familial Mixed 50 0.028
655
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 49 0.028
656
MNN009 Meningoencephalitis 49 0.028
657
P CMP008 Compartment Syndrome 49 0.028
658
RDD003 Riddle Syndrome 49 0.028
659
BCT004 Bacteriuria 49 0.028
660
P CTN015 Cutaneous T Cell Lymphoma 49 0.028
661
VCC001 Vaccinia 49 0.028
662
MLR002 Miliary Tuberculosis 49 0.028
663
HST010 Histiocytosis 48 0.028
664
HYP043 Hyperandrogenism 48 0.028
665
CMB020 Combined Saposin Deficiency 48 0.028
666
DFF006 Diffuse Idiopathic Skeletal Hyperostosis 48 0.028
667
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 48 0.028
668
HYP068 Hyperostosis 48 0.028
669
IGG001 Iga Glomerulonephritis 48 0.028
670
P SLL003 Salla Disease 48 0.028
671
P GND004 Gonadal Dysgenesis 48 0.028
672
FBR009 Fibrous Dysplasia 48 0.028
673
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 48 0.028
674
MLK006 Milk Allergy 48 0.028
675
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.028
676
ADN009 Adenosquamous Carcinoma 47 0.028
677
SPH010 Sphingolipidosis 47 0.028
678
P RNL015 Renal Hypertension 47 0.028
679
NRN001 Neuroendocrine Carcinoma 47 0.028
680
RNL077 Renal Fibrosis 47 0.028
681
P CLL015 Collagen Disease 47 0.028
682
c SPN312 Spinocerebellar Ataxia 14 47 0.028
683
c CNG216 Congenital Hydrocephalus 47 0.028
684
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.028
685
OST062 Osteoarthritis with Mild Chondrodysplasia 47 0.028
686
MYP151 Myopathy, Congenital, Bailey-Bloch 47 0.028
687
NSS002 Neisseria Meningitidis Infection 47 0.028
688
ATN005 Autonomic Dysfunction 46 0.028
689
c CRV002 Cervix Uteri Carcinoma in Situ 46 0.028
690
SPN020 Spondylosis 46 0.028
691
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.028
692
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.028
693
KRT013 Keratolytic Winter Erythema 46 0.028
694
c GM1006 Gm1-Gangliosidosis, Type Iii 46 0.028
695
OBS004 Obstructive Hydrocephalus 46 0.028
696
P MYC033 Myoclonus 46 0.028
697
SQM002 Squamous Cell Papilloma 46 0.028
698
SVN002 Sveinsson Chorioretinal Atrophy 46 0.028
699
GLY031 Glycoproteinosis 45 0.028
700
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.028
701
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.028
702
CRB004 Cerebral Artery Occlusion 45 0.028
703
C3G002 C3 Glomerulopathy 45 0.028
704
c GM2006 Gm2 Gangliosidosis 45 0.028
705
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 45 0.028
706
CRT015 Carotid Artery Occlusion 45 0.028
707
c ACQ014 Acquired Hemophilia 45 0.028
708
c JVN003 Juvenile Xanthogranuloma 44 0.028
709
ASP026 Asplenia, Isolated Congenital 44 0.028
710
c NPH102 Nephrotic Syndrome, Type 14 44 0.028
711
DWR001 Dwarfism 44 0.028
712
P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 44 0.028
713
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.028
714
CRB008 Cerebral Atherosclerosis 44 0.028
715
P GNG009 Gangliosidosis 44 0.028
716
P FBR003 Fibrous Histiocytoma 44 0.028
717
CRB027 Cerebellar Disease 44 0.028
718
SYR002 Syringocystadenoma Papilliferum 44 0.028
719
c HYP272 Hypercholesterolemia, Familial, 3 44 0.028
720
PKL001 Poikiloderma with Neutropenia 44 0.028
721
PRT014 Protein S Deficiency 44 0.028
722
BCT021 Bacterial Sepsis 44 0.028
723
P BCL004 B-Cell Non-Hodgkin Lymphoma 44 0.028
724
CHL109 Childhood Apraxia of Speech 44 0.028
725
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.028
726
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.028
727
P RPD001 Rapidly Progressive Glomerulonephritis 44 0.028
728
SPN369 Spinal Disease 43 0.028
729
MST019 Mastoiditis 43 0.028
730
DVR002 Diverticulitis 43 0.028
731
KPS002 Kaposiform Hemangioendothelioma 43 0.028
732
NSP002 Nasopharyngitis 43 0.028
733
SBL008 Sea-Blue Histiocyte Disease 43 0.028
734
DSC009 Discoid Lupus Erythematosus 42 0.028
735
MST004 Mast Cell Neoplasm 42 0.028
736
PNM013 Pneumococcal Meningitis 42 0.028
737
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 42 0.028
738
CRV043 Cervical Dystonia 42 0.028
739
c EPS039 Episodic Pain Syndrome, Familial, 1 42 0.028
740
BCK006 Back Pain 42 0.028
741
ATX019 Ataxia with Vitamin E Deficiency 42 0.028
742
VLL003 Villonodular Synovitis 42 0.028
743
ARC002 Arachnoiditis 42 0.028
744
HGH020 High Molecular Weight Kininogen Deficiency 41 0.028
745
NRN005 Neuronal Ceroid-Lipofuscinoses 41 0.028
746
MNN002 Mononeuritis Multiplex 41 0.028
747
LTX001 Latex Allergy 41 0.028
748
P HYP263 Hypersomnia 41 0.028
749
DFF003 Diffuse Scleroderma 41 0.028
750
VLV010 Vulvovaginitis 41 0.028
751
P RRH023 Rare Hereditary Hemochromatosis 41 0.028
752
P RRT020 Rare Tumor 41 0.028
753
OST115 Osteonecrosis of the Jaw 40 0.028
754
ANX004 Anoxia 40 0.028
755
c HYP072 Hypersensitivity Reaction Type Iii Disease 40 0.028
756
c LYM150 Lymphatic Malformation 7 40 0.028
757
PLM005 Pleomorphic Lipoma 40 0.028
758
ICH020 Ichthyosis Prematurity Syndrome 40 0.028
759
TNS001 Tenosynovial Giant Cell Tumor 40 0.028
760
IMM001 Immune-Complex Glomerulonephritis 40 0.028
761
SPN221 Spina Bifida Occulta 39 0.028
762
P ARC016 Auriculocondylar Syndrome 1 39 0.028
763
P FML156 Familial Hyperaldosteronism 39 0.028
764
NVS015 Nevus Comedonicus 39 0.028
765
ALG001 Algoneurodystrophy 39 0.028
766
CRV045 Cervical Intraepithelial Neoplasia 39 0.028
767
EXT007 Extracutaneous Mastocytoma 38 0.028
768
ANG016 Angiokeratoma 38 0.028
769
CHL073 Cholestasis-Lymphedema Syndrome 38 0.028
770
HPT070 Hepatosplenic T-Cell Lymphoma 38 0.028
771
OST006 Osteoblastoma 38 0.028
772
CRB009 Cerebritis 37 0.028
773
c LKD023 Leukodystrophy, Hypomyelinating, 12 37 0.028
774
P CRB088 Cerebral Atrophy 37 0.028
775
P CRB059 Cerebellar Degeneration 37 0.028
776
c CHR020 Chronic Interstitial Cystitis 37 0.028
777
c ACQ042 Acquired Hemophilia a 37 0.028
778
DNS007 Dense Deposit Disease 37 0.028
779
SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 36 0.028
780
P ADT009 Auditory Neuropathy Spectrum Disorder 36 0.028
781
WHP002 Whiplash 36 0.028
782
SPN354 Spinal Arachnoiditis 36 0.028
783
FCH002 Fuchs' Heterochromic Uveitis 35 0.028
784
TCK003 Tick-Borne Relapsing Fever 35 0.028
785
EPD005 Epidural Abscess 35 0.028
786
CNG017 Congenital Nonspherocytic Hemolytic Anemia 35 0.028
787
c ART060 Arthrogryposis, Distal, Type 1b 35 0.028
788
PRM329 Premature Aging 35 0.028
789
P MSC002 Muscular Dystrophy-Dystroglycanopathy 35 0.028
790
NRX001 Neuroaxonal Dystrophy 35 0.028
791
P MYC026 Myoclonus Epilepsy 35 0.028
792
CLD011 Cold Urticaria 35 0.028
793
HMC038 Hemochromatosis, Neonatal 35 0.028
794
DVL001 Developmental Coordination Disorder 34 0.028
795
PHY008 Physical Urticaria 34 0.028
796
c PLM127 Pulmonary Hypertension, Primary, 3 34 0.028
797
PST010 Pasteurellosis 34 0.028
799
CRT008 Carotid Artery Dissection 33 0.028
800
c PRG106 Progressive Muscular Dystrophy 33 0.028
801
PPL052 Papillomatosis, Confluent and Reticulated 33 0.028
802
SPN029 Spondylolysis 33 0.028
803
c PRS136 Prostate Cancer, Hereditary, 6 33 0.028
804
NNN007 Non-Involuting Congenital Hemangioma 33 0.028
805
LSB001 Louse-Borne Relapsing Fever 33 0.028
806
VRS001 Virus Associated Hemophagocytic Syndrome 32 0.028
807
c PRS130 Prostate Cancer, Hereditary, 8 32 0.028
808
PRN033 Paraneoplastic Neurologic Disorders 32 0.028
809
TRG019 Trigonocephaly with Short Stature and Developmental Delay 32 0.028
810
NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 32 0.028
811
NRN002 Neuronitis 32 0.028
812
ALL007 Allergic Urticaria 31 0.028
813
INF009 Inflammatory Spondylopathy 31 0.028
814
STT009 Sutton Disease 2 30 0.028
815
CHL035 Cholinergic Urticaria 30 0.028
816
c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 30 0.028
817
VRT003 Vertebrobasilar Insufficiency 30 0.028
818
ALK023 Al Kaissi Syndrome 30 0.028
819
3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 30 0.028
820
SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 30 0.028
821
INT042 Internuclear Ophthalmoplegia 30 0.028
822
SPN392 Spondylosis, Cervical 30 0.028
823
MTC008 Mitochondrial Complex Iii Deficiency 30 0.028
824
CLF051 Cleft Larynx, Posterior 30 0.028
825
DGT009 Digitotalar Dysmorphism 29 0.028
826
CNJ001 Conjugate Gaze Palsy 29 0.028
827
SPL007 Splenic Abscess 28 0.028
828
PHS025 Phosphatase, Acid, of Tissues 28 0.028
829
DSR031 Disorder of Copper Metabolism 27 0.028
830
CNG506 Congenital Amyoplasia 27 0.028
831
CNG065 Congenital Contractures 27 0.028
832
c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 27 0.028
833
LRY026 Laryngeal Cleft 27 0.028
834
ACR099 Acrofacial Dysostosis, Catania Type 27 0.028
835
CHL079 Children's Interstitial Lung Disease 26 0.028
836
BNG077 Benign Idiopathic Neonatal Seizures 26 0.028
837
NCR009 Necrobiotic Xanthogranuloma 26 0.028
838
SPC030 Specific Language Disorder 26 0.028
839
MTH071 Methane Production 26 0.028
840
STC018 Stac3 Disorder 25 0.028
841
CRB018 Cerebral Lipidosis 25 0.028
842
NRM022 Neurometabolic Disease 25 0.028
843
MNN004 Meningothelial Meningioma 25 0.028
844
HMP028 Hemophagocytic Syndrome Associated with an Infection 24 0.028
845
c PRM243 Primary Bone Cancer 24 0.028
846
c RRH015 Rare Hemorrhagic Disorder 23 0.028
847
c CNG129 Congenital Torticollis 23 0.028
848
HDG004 Hodgkin's Granuloma 23 0.028
849
HDG006 Hodgkin's Paragranuloma 22 0.028
850
HML018 Homologous Wasting Disease 22 0.028
851
c SYS069 Systemic Lupus Erythematosus 6 21 0.028
852
c PSD047 Pseudo-Turner Syndrome 21 0.028
853
P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 21 0.028
854
OXR001 Oxirane Allergy 20 0.028
855
GNT182 Genetic Nephrotic Syndrome 20 0.028
856
MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 20 0.028
857
LYS024 Lysosomal and Lipase Deficiency 19 0.028
858
ODN022 Odontoid Hypoplasia 18 0.028
859
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17 0.028
860
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16 0.028
861
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16 0.028
862
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16 0.028
863
NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16 0.028
864
RRC033 Rare Coagulation Disorder 16 0.028
865
SYR007 Syringohydromyelia 16 0.028
866
c EST011 Esterase C 15 0.028
867
BWH001 Bow Hunter's Stroke 12 0.028
868
c LWD007 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 12 0.028
870
c ACQ036 Acquired Angioedema Type 2 11 0.028
871
SRP007 Serpinopathy 11 0.028
872
NRD075 Neurodegenerative Disease with Dementia 8 0.028
873
CNZ002 Coenzyme Q Cytochrome C Reductase Deficiency of 1 0.028
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