Search results for "nystagmus"

The MalaCard for "nystagmus" has been retired.
Searching MalaCards for entries containing "nystagmus"

1456 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
c NYS017 Nystagmus 1, Congenital, X-Linked 23 5.642
2
P XLN065 X-Linked Infantile Nystagmus 22 4.630
3
SPN033 Spontaneous Ocular Nystagmus 29 4.006
4
c NYS013 Nystagmus 6, Congenital, X-Linked 23 4.006
5
P CNG024 Congenital Nystagmus 33 3.697
6
c FRM005 Frmd7-Related Infantile Nystagmus 9 3.624
7
c EPS035 Episodic Ataxia, Type 2 48 3.301
8
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 14 3.287
9
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 15 3.282
10
SPL021 Split Hand Split Foot Nystagmus 18 3.277
11
NHS001 Neuhauser Daly Magnelli Syndrome 11 3.253
12
P BMN001 Biemond Syndrome 17 3.240
13
NYS007 Nystagmus, Hereditary Vertical 5 3.240
14
VST003 Vestibular Nystagmus 28 3.232
15
PTH003 Pathologic Nystagmus 24 2.871
16
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 12 2.856
17
NYS008 Nystagmus, Myoclonic 4 2.812
18
DSS005 Dissociated Nystagmus 11 2.804
19
c NYS012 Nystagmus 5, Congenital, X-Linked 12 2.346
20
CHR165 Chorea, Remitting with Nystagmus and Cataracts 5 2.321
21
LWR008 Lowry Wood Syndrome 21 2.305
22
BNG018 Benign Paroxysmal Positional Nystagmus 26 2.296
23
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 7 2.296
24
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 11 1.691
25
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 28 1.646
26
MTN006 Mietens-Weber Syndrome 16 1.646
27
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 3 1.646
28
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 3 1.646
29
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4 1.636
30
FGS004 Fg Syndrome 4 22 1.623
31
ODN003 O Donnell Pappas Syndrome 18 1.623
32
MNZ002 Manz Syndrome 7 1.608
33
MMN001 Maumenee Syndrome 3 1.608
34
SLN003 Silengo Lerone Pelizza Syndrome 3 1.608
35
SNG001 Singh Chhaparwal Dhanda Syndrome 3 1.608
36
P LKM002 Leukemia 63 0.077
37
OCL011 Ocular Motility Disease 27 0.066
38
P BRS047 Breast Cancer 100 0.064
39
P PNC044 Pancreatitis 53 0.064
40
P HPT021 Hepatitis 63 0.061
41
P LYM118 Lymphoma 57 0.061
42
P STR020 Strabismus 42 0.061
43
P ART022 Arthritis 63 0.058
44
END072 Endotheliitis 41 0.058
45
P CRV039 Cervicitis 41 0.058
46
EYD002 Eye Disease 38 0.058
47
P SPR013 Spiradenoma 35 0.058
48
OPT006 Optic Nerve Disease 35 0.058
49
AST006 Astigmatism 33 0.058
50
HPT074 Hepatic Adenoma, Somatic 31 0.058
51
CRN031 Cranial Nerve Disease 31 0.058
52
P CRN035 Cranial Nerve Palsy 30 0.058
53
FST001 Foster-Kennedy Syndrome 28 0.058
54
AND005 Androgen Insensitivity Syndrome, Mild 17 0.058
55
MTR031 Motor Neuro-Ophthalmic Disorders 9 0.058
56
P RHM011 Rheumatoid Arthritis 87 0.054
57
P ESP024 Esophagitis 54 0.054
58
PRS047 Prostatitis 53 0.054
59
P THY032 Thyroiditis 49 0.054
60
RTN023 Retinitis 42 0.054
61
c ALB021 Albinism, Oculocutaneous, Type Ii 39 0.054
62
c BNG076 Benign Exophthalmos Syndrome 17 0.054
63
P OBS005 Obesity 87 0.051
64
ANR002 Aniridia 62 0.051
65
CRB009 Cerebritis 44 0.051
66
c ALB009 Albinism, Oculocutaneous, Type Ia 40 0.051
67
NRN002 Neuronitis 36 0.051
68
GLB003 Globe Disease 21 0.051
69
MCH006 Mechanical Strabismus 21 0.051
70
P LNG032 Lung Cancer 91 0.047
71
HPT023 Hepatocellular Carcinoma 87 0.047
72
HV1006 Hiv-1 78 0.047
73
P AST005 Asthma 77 0.047
74
P RTN008 Retinitis Pigmentosa 75 0.047
75
SRC014 Sarcoma 61 0.047
76
P PLZ001 Pelizaeus-Merzbacher Disease 59 0.047
77
PTR006 Peters Anomaly 58 0.047
78
BLC001 Blue Cone Monochromacy 44 0.047
79
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 31 0.047
80
MVM001 Movement Disease 26 0.047
81
P PRS040 Prostate Cancer 87 0.043
82
CYS001 Cystic Fibrosis 84 0.043
83
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 72 0.043
84
P MYL006 Myeloid Leukemia 61 0.043
85
P BPL003 Bipolar Disorder 59 0.043
86
ATH003 Atherosclerosis 56 0.043
87
DRM006 Dermatitis 55 0.043
88
MLN008 Melanoma 55 0.043
89
P LBR001 Leber Congenital Amaurosis 50 0.043
90
ART111 Artery Disease 49 0.043
91
ANR040 Aneurysm 46 0.043
92
P ATX004 Ataxia 43 0.043
93
P NRL007 Neurologic Diseases 30 0.043
94
c LBR004 Leber Congenital Amaurosis 1 29 0.043
95
OCL016 Ocular Albinism, X-Linked 23 0.043
96
P CLR023 Colorectal Cancer 91 0.038
97
P PNC035 Pancreatic Cancer 82 0.038
98
P ATX030 Ataxia-Telangiectasia 74 0.038
99
P OVR042 Ovarian Cancer 69 0.038
100
P CRN211 Coronary Artery Disease 69 0.038
101
c HPT001 Hepatitis C 65 0.038
102
c HPT016 Hepatitis B 57 0.038
103
ADN018 Adenoma 53 0.038
104
RBS001 Rabies 52 0.038
105
CCH002 Coach Syndrome 50 0.038
106
P OCL002 Oculocutaneous Albinism 49 0.038
107
P HYP098 Hypereosinophilic Syndrome 49 0.038
108
P CTR002 Cataract 47 0.038
109
P NRP001 Neuropathy 47 0.038
110
NNC002 Nance-Horan Syndrome 41 0.038
111
LPM005 Lipomatosis 40 0.038
112
P MRN003 Marinesco-Sjogren Syndrome 39 0.038
113
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 34 0.038
114
c ALB010 Albinism, Oculocutaneous, Type Ib 34 0.038
115
BDY001 Body Dysmorphic Disorder 33 0.038
116
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 32 0.038
117
c ALB019 Albinism, Oculocutaneous, Type Iv 31 0.038
118
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 29 0.038
119
c ALB020 Albinism, Oculocutaneous, Type Iii 28 0.038
120
c LBR017 Leber Congenital Amaurosis 7 27 0.038
121
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 26 0.038
122
c LBR016 Leber Congenital Amaurosis 6 24 0.038
123
c LBR018 Leber Congenital Amaurosis 8 22 0.038
124
c LBR006 Leber Congenital Amaurosis 11 22 0.038
125
FVL006 Foveal Hypoplasia 1 17 0.038
126
CHR167 Chorioretinal Atrophy, Progressive Bifocal 16 0.038
127
P SCH015 Schizophrenia 76 0.033
128
c MLT019 Multiple Myeloma 71 0.033
129
P CRD013 Cardiofaciocutaneous Syndrome 65 0.033
130
SVR004 Severe Combined Immunodeficiency 65 0.033
131
TBR010 Tuberculosis 65 0.033
132
SMT004 Smith-Lemli-Opitz Syndrome 65 0.033
133
P OST001 Osteopetrosis 61 0.033
134
CHD001 Chediak-Higashi Syndrome 60 0.033
135
P CRN015 Cornelia De Lange Syndrome 60 0.033
136
P AMY004 Amyloidosis 59 0.033
137
P CRD011 Cardiomyopathy 59 0.033
138
P WLF004 Wolfram Syndrome 59 0.033
139
P ADN016 Adenocarcinoma 59 0.033
140
P HRT032 Heart Disease 58 0.033
141
c JBR020 Joubert Syndrome 1 57 0.033
142
P RFS001 Refsum Disease 57 0.033
143
PRC002 Paracoccidioidomycosis 56 0.033
144
P HLL001 Hallermann-Streiff Syndrome 54 0.033
145
P HRM001 Hermansky-Pudlak Syndrome 54 0.033
146
P CFF001 Coffin-Siris Syndrome 53 0.033
147
c ACT027 Acute Pancreatitis 53 0.033
148
P ALT001 Alternating Hemiplegia of Childhood 53 0.033
149
P CRB042 Cerebellar Ataxia 52 0.033
150
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.033
151
MLG056 Malignant Hyperthermia 52 0.033
152
P ESN007 Eosinophilia 52 0.033
153
PPL022 Papilloma 52 0.033
154
ALS001 Alstrom Syndrome 51 0.033
155
FDL002 Food Allergy 51 0.033
156
P MYL007 Myeloma 50 0.033
157
CLT003 Colitis 49 0.033
158
c CNG206 Congenital Disorder of Glycosylation, Type Ie 49 0.033
159
P CRN108 Cranioectodermal Dysplasia 1 49 0.033
160
P PRS038 Personality Disorder 49 0.033
161
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 47 0.033
162
VCS001 Vici Syndrome 47 0.033
163
SYN007 Synovitis 46 0.033
164
CHN055 Chanarin-Dorfman Syndrome 46 0.033
165
P GLM045 Glioma 46 0.033
166
GST053 Gastric Cancer 44 0.033
167
ACR012 Aicardi Syndrome 44 0.033
168
P ENC018 Encephalopathy 43 0.033
169
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 43 0.033
170
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 43 0.033
171
CHR222 Chromosome 1p36 Deletion Syndrome 43 0.033
172
P SLD010 Sialidosis, Type I 43 0.033
173
CHR285 Chronic Myelomonocytic Leukemia 42 0.033
174
OCL001 Ocular Albinism 42 0.033
175
c CNG021 Congenital Toxoplasmosis 42 0.033
176
P BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 42 0.033
177
c SPN309 Spinocerebellar Ataxia 6 41 0.033
178
HMG002 Hemoglobinuria 40 0.033
179
GPS001 Gapo Syndrome 40 0.033
180
SCB001 Scabies 40 0.033
181
DDN006 Duodenitis 39 0.033
182
JLL001 Jalili Syndrome 38 0.033
183
FRN002 Frontal Lobe Epilepsy 38 0.033
184
P HYP071 Hypersensitivity Reaction Type Ii Disease 38 0.033
185
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 37 0.033
186
c MCR263 Microphthalmia, Syndromic 1 37 0.033
187
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 36 0.033
188
LRN001 Laurence-Moon Syndrome 36 0.033
189
MYX004 Myxedema 35 0.033
190
DSM002 Desmosterolosis 33 0.033
191
KFM001 Kaufman Oculocerebrofacial Syndrome 33 0.033
192
ERY001 Erysipeloid 33 0.033
193
ALN001 Aland Island Eye Disease 32 0.033
194
P INT063 Intellectual Disability 31 0.033
195
c SCH069 Schindler Disease, Type I 30 0.033
196
OCL034 Oculocerebrocutaneous Syndrome 29 0.033
197
PCW002 Pcwh Syndrome 29 0.033
198
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.033
199
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28 0.033
200
SPN331 Spondyloocular Syndrome 28 0.033
201
c ACH034 Achromatopsia-2 28 0.033
202
c SPN104 Spinocerebellar Ataxia 34 27 0.033
203
BHR001 Behr Syndrome 27 0.033
204
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 26 0.033
205
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 26 0.033
206
c LBR012 Leber Congenital Amaurosis 2 26 0.033
207
P XLN012 X-Linked Congenital Stationary Night Blindness 26 0.033
208
OCL033 Oculocerebral Syndrome with Hypopigmentation 24 0.033
209
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 24 0.033
210
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 24 0.033
211
ALR002 Al-Raqad Syndrome 24 0.033
212
c ALB017 Albinism, Oculocutaneous, Type Vi 24 0.033
213
HRD052 Hereditary Mucoepithelial Dysplasia 24 0.033
214
c SPN284 Spinocerebellar Ataxia 38 24 0.033
215
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 23 0.033
216
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 22 0.033
217
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 21 0.033
218
c ACH025 Achromatopsia-4 21 0.033
219
P OCL012 Ocular Albinism with Sensorineural Deafness 20 0.033
220
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 20 0.033
221
NRC016 Neuroectodermal Melanolysosomal Disease 20 0.033
222
P SPS133 Spastic Paraplegia 2, X-Linked 19 0.033
223
c LKD016 Leukodystrophy, Hypomyelinating, 9 19 0.033
224
CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 16 0.033
225
MYL017 Myelocerebellar Disorder 13 0.033
226
c MLT093 Multiple Sclerosis 2 10 0.033
227
ATM053 Autoimmune Disease 2 8 0.033
228
P ALZ034 Alzheimer Disease 91 0.027
229
P RNL014 Renal Cell Carcinoma 81 0.027
230
P MYC007 Myocardial Infarction 77 0.027
231
MLR004 Malaria 75 0.027
232
P RTN024 Retinoblastoma 73 0.027
233
P OST012 Osteoarthritis 72 0.027
234
c CHR090 Chronic Lymphocytic Leukemia 69 0.027
235
P NRB001 Neuroblastoma 69 0.027
236
P APL001 Aplastic Anemia 68 0.027
237
P ALG002 Alagille Syndrome 67 0.027
238
P MTC003 Metachromatic Leukodystrophy 67 0.027
239
P LPR003 Leprosy 66 0.027
240
CDS001 Cadasil 66 0.027
241
c FNC027 Fanconi Anemia, Complementation Group a 66 0.027
242
P LGH007 Leigh Syndrome 66 0.027
243
VNH007 Von Hippel-Lindau Syndrome 65 0.027
244
THY028 Thyroid Cancer 65 0.027
245
ALL003 Allergic Rhinitis 64 0.027
246
P NNN008 Noonan Syndrome 1 63 0.027
247
P CLC005 Celiac Disease 63 0.027
248
BSL036 Basal Cell Nevus Syndrome 62 0.027
249
P CRN037 Craniosynostosis 61 0.027
250
P ANG001 Angelman Syndrome 60 0.027
251
ART016 Aortic Aneurysm 60 0.027
252
CTN007 Cutaneous Leishmaniasis 59 0.027
253
P HRP006 Herpes Simplex 59 0.027
254
PRP027 Peripheral Vascular Disease 59 0.027
255
P BCL006 B-Cell Lymphomas 59 0.027
256
NRR002 Norrie Disease 59 0.027
257
P TRN020 Turner Syndrome 59 0.027
258
P KLL001 Kallmann Syndrome 58 0.027
259
P PRD008 Periodontitis 57 0.027
260
SCH014 Schistosomiasis 57 0.027
261
MSL001 Measles 57 0.027
262
P OCL013 Oculodentodigital Dysplasia 56 0.027
263
P PNM007 Pneumonia 56 0.027
264
P FRD001 Friedreich Ataxia 56 0.027
265
P USH001 Usher Syndrome 56 0.027
266
P MNN013 Meningitis 55 0.027
267
VSC007 Vascular Disease 55 0.027
268
EPD016 Epidermolysis Bullosa 55 0.027
269
P ALX003 Alexander Disease 55 0.027
270
P SNS014 Sinusitis 55 0.027
271
P LYM026 Lymphoblastic Leukemia 55 0.027
272
P CHN012 Chondrosarcoma 54 0.027
273
P TMP003 Temporal Arteritis 54 0.027
274
LWS003 Lowe Syndrome 54 0.027
275
P ATP001 Atopic Dermatitis 54 0.027
276
P MSC005 Muscular Dystrophy 54 0.027
277
P THR014 Thrombocytopenia 54 0.027
278
BLL001 Baller-Gerold Syndrome 53 0.027
279
P ABD003 Abdominal Aortic Aneurysm 53 0.027
280
ALL006 Allergic Asthma 53 0.027
281
P UVT001 Uveitis 53 0.027
282
LMY002 Leiomyoma 53 0.027
283
SDC002 Sed Congenita 53 0.027
284
P BRD002 Bardet-Biedl Syndrome 52 0.027
285
P RHN004 Rhinitis 52 0.027
286
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.027
287
ERD001 Erdheim-Chester Disease 52 0.027
288
FRB001 Farber Lipogranulomatosis 52 0.027
289
c GNG001 Gangliosidosis Gm1 51 0.027
290
P HYP086 Hypothyroidism 51 0.027
291
PLS011 Plasmacytoma 51 0.027
292
STT001 Status Epilepticus 51 0.027
293
P DYS154 Dystonia 51 0.027
294
P HRD011 Hereditary Spherocytosis 51 0.027
295
RBR001 Roberts Syndrome 51 0.027
296
URT039 Urticaria 51 0.027
297
P ADL010 Adult Respiratory Distress Syndrome 51 0.027
298
WLF002 Wolf-Hirschhorn Syndrome 51 0.027
299
LYM021 Lymphadenitis 51 0.027
300
P GLM007 Glomerulonephritis 50 0.027
301
P ENC004 Encephalitis 50 0.027
302
P LRY019 Laryngitis 50 0.027
303
MLK003 Melkersson-Rosenthal Syndrome 50 0.027
304
P ACH003 Achromatopsia 50 0.027
305
ISC004 Ischemia 49 0.027
306
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 49 0.027
307
P MWT001 Mowat-Wilson Syndrome 49 0.027
308
c SPN294 Spinocerebellar Ataxia 1 49 0.027
309
WGR001 Wagr Syndrome 48 0.027
310
PHR003 Pharyngitis 48 0.027
311
P OPN001 Open-Angle Glaucoma 48 0.027
312
PTN001 Patent Foramen Ovale 48 0.027
313
VGN023 Vaginitis 47 0.027
314
PLM014 Pleomorphic Adenoma 47 0.027
315
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 47 0.027
316
P KBK002 Kabuki Syndrome 1 47 0.027
317
c TYR013 Tyrosinemia, Type Ii 47 0.027
318
HRT031 Hartnup Disorder 47 0.027
319
c PRX045 Peroxisome Biogenesis Disorder 1b 46 0.027
320
GST045 Gastroenteritis 46 0.027
321
CNG048 Congenital Hepatic Fibrosis 46 0.027
322
P SYP003 Syphilis 46 0.027
323
CHL071 Child Syndrome 45 0.027
324
HYP080 Hypogonadism 45 0.027
325
DYS014 Dyspepsia 45 0.027
326
P MTH007 Methemoglobinemia 45 0.027
327
MRS002 Marshall Syndrome 45 0.027
328
CHR105 Choreoacanthocytosis 45 0.027
329
P OVR049 Ovarian Disease 45 0.027
330
HYP299 Hyperostosis, Endosteal 45 0.027
331
SCR002 Scurvy 45 0.027
332
P PYL005 Pyelonephritis 44 0.027
333
KDS001 Kid Syndrome 44 0.027
334
NRM005 Neuromuscular Disease 44 0.027
335
P PNC001 Pancytopenia 44 0.027
336
P TRM003 Tremor 44 0.027
337
ALL001 Allan-Herndon-Dudley Syndrome 44 0.027
338
TRN044 Transposition of the Great Arteries 43 0.027
339
c CNG412 Congenital Disorder of Glycosylation, Type Ii 43 0.027
340
P PRR025 Perrault Syndrome 43 0.027
341
c CNG124 Congenital Rubella 43 0.027
342
DVR002 Diverticulitis 43 0.027
343
P GRS003 Griscelli Syndrome 42 0.027
344
c USH003 Usher Syndrome Type Ii 42 0.027
345
ADL002 Adult Syndrome 42 0.027
346
ALB002 Albinism 42 0.027
347
c SPN311 Spinocerebellar Ataxia 13 41 0.027
348
DMY004 Demyelinating Disease 41 0.027
349
ARC002 Arachnoiditis 41 0.027
350
THR013 Thoracic Outlet Syndrome 41 0.027
351
DXT001 Dextrocardia 41 0.027
352
NNT017 Neonatal Adrenoleukodystrophy 41 0.027
353
P SCL009 Sclerosing Cholangitis 41 0.027
354
ISC002 Ischemic Optic Neuropathy 40 0.027
355
PRS055 Pierson Syndrome 40 0.027
356
P CHL066 Cholangitis 40 0.027
357
CRN241 Corneal Dystrophy, Congenital Stromal 40 0.027
358
URT010 Ureteral Obstruction 40 0.027
359
c SPN304 Spinocerebellar Ataxia 8 40 0.027
360
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 39 0.027
361
P PRM108 Primary Progressive Multiple Sclerosis 39 0.027
362
c INF069 Infantile Neuroaxonal Dystrophy 1 39 0.027
363
CHR008 Choroiditis 39 0.027
364
BRC084 Brca1 Hereditary Breast and Ovarian Cancer Syndrome 39 0.027
365
INT017 Intestinal Schistosomiasis 39 0.027
366
P DNR001 Duane Retraction Syndrome 39 0.027
367
CHN005 Choanal Atresia 39 0.027
368
c SPN308 Spinocerebellar Ataxia 28 39 0.027
369
c ATS004 Autosomal Dominant Microcephaly 39 0.027
370
P TCL004 T-Cell Leukemia 39 0.027
371
APR001 Apraxia 38 0.027
372
PPL048 Papillorenal Syndrome 38 0.027
373
NRN008 Neuronal Intranuclear Inclusion Disease 38 0.027
374
MCL003 Macular Holes 38 0.027
375
LKP003 Leukoplakia 36 0.027
376
CRB045 Cerebellar Hypoplasia 36 0.027
377
MYP002 Myoepithelial Carcinoma 36 0.027
378
ESN005 Eosinophilic Gastroenteritis 36 0.027
379
JBR034 Joubert Syndrome with Orofaciodigital Defect 36 0.027
380
MSN002 Mesenteric Lymphadenitis 36 0.027
381
TTR016 Tetra-Amelia Syndrome 36 0.027
382
P CRT033 Corticobasal Degeneration 35 0.027
383
YNS002 Yunis-Varon Syndrome 35 0.027
384
CGN006 Cogan Syndrome 35 0.027
385
SPT006 Septooptic Dysplasia 34 0.027
386
c SPN305 Spinocerebellar Ataxia 11 34 0.027
387
c LBR014 Leber Congenital Amaurosis 4 34 0.027
388
c CHR098 Chronic Pyelonephritis 34 0.027
389
c ATS282 Autosomal Recessive Malignant Osteopetrosis 34 0.027
390
c GRS013 Griscelli Syndrome, Type 1 32 0.027
391
c KNB004 Knobloch Syndrome, Type 1 31 0.027
392
MLN012 Melanoma and Neural System Tumor Syndrome 31 0.027
393
BLP004 Blepharophimosis 30 0.027
394
c ACT066 Acute Cervicitis 30 0.027
395
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 30 0.027
396
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 29 0.027
397
DNC004 Diencephalic Syndrome 29 0.027
398
AYM001 Ayme-Gripp Syndrome 29 0.027
399
JBR005 Joubert Syndrome with Ocular Anomalies 29 0.027
400
c MCR251 Microphthalmia, Syndromic 6 29 0.027
401
P SCH017 Schindler Disease 29 0.027
402
48X003 48,xxyy Syndrome 28 0.027
403
c LBR009 Leber Congenital Amaurosis 14 28 0.027
404
OLV004 Oliver-Mcfarlane Syndrome 28 0.027
405
PRD011 Proud Syndrome 28 0.027
406
c LBR015 Leber Congenital Amaurosis 5 28 0.027
407
FRS004 Free Sialic Acid Storage Disorders 28 0.027
408
c ACH038 Achromatopsia 7 27 0.027
409
RDN001 Reading Disorder 27 0.027
410
GZP002 Gaze Palsy, Horizontal, with Progressive Scoliosis 27 0.027
411
CTR014 Cataract Microcornea Syndrome 27 0.027
412
CDS002 Codas Syndrome 27 0.027
413
NRC003 Narcissistic Personality Disorder 26 0.027
414
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 26 0.027
415
c LBR013 Leber Congenital Amaurosis 3 26 0.027
416
ACT095 Acute Biphenotypic Leukemia 26 0.027
417
c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 25 0.027
418
LNS003 Lens Disease 25 0.027
419
JBR006 Joubert Syndrome with Oculorenal Anomalies 25 0.027
420
CHR518 Chromosome 9p Deletion Syndrome 25 0.027
421
c ALB016 Albinism, Oculocutaneous, Type Vii 25 0.027
422
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 25 0.027
423
c ACH036 Achromatopsia-3 25 0.027
424
JBR007 Joubert Syndrome with Renal Anomalies 24 0.027
425
SPN156 Spontaneous Coronary Artery Dissection 24 0.027
426
c LBR007 Leber Congenital Amaurosis 12 24 0.027
427
c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 24 0.027
428
DYS045 Dysosteosclerosis 23 0.027
429
P LKD010 Leukodystrophy, Hypomyelinating, 2 23 0.027
430
c LBR019 Leber Congenital Amaurosis 9 23 0.027
431
c LBR010 Leber Congenital Amaurosis 15 23 0.027
432
16Q001 16q24.3 Microdeletion Syndrome 23 0.027
433
SPS087 Spasmus Nutans 23 0.027
434
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 22 0.027
435
c STR085 Striatonigral Degeneration, Infantile 22 0.027
436
ACT216 Acute Leukemia of Ambiguous Lineage 22 0.027
437
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 21 0.027
438
ATM052 Autoimmune Disease 1 21 0.027
439
c LKD008 Leukodystrophy, Hypomyelinating, 4 21 0.027
440
CMB018 Combined Oxidative Phosphorylation Deficiency 7 21 0.027
441
c LBR011 Leber Congenital Amaurosis 16 21 0.027
442
ATX018 Ataxia, Cerebellar, Cayman Type 21 0.027
443
c EPS034 Episodic Ataxia, Type 5 20 0.027
444
c FML306 Familial or Sporadic Hemiplegic Migraine 20 0.027
445
HSH001 Hashimoto-Pritzker Syndrome 19 0.027
446
P DFN296 Deafness-Onychodystrophy Syndrome 18 0.027
447
INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 18 0.027
448
CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 18 0.027
449
ESN022 Eosinophilic Colitis 17 0.027
450
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 17 0.027
451
PRT101 Poretti-Boltshauser Syndrome 16 0.027
452
19P001 19p13.12 Microdeletion Syndrome 15 0.027
453
CDL001 Caudal Appendage Deafness 15 0.027
454
NRD013 Neurodegeneration with Optic Atrophy, Childhood Onset 15 0.027
455
c INF044 Infantile Axonal Neuropathy 15 0.027
456
c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 14 0.027
457
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 14 0.027
458
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.027
459
DST045 Distal Trisomy 6p 14 0.027
460
SHR092 Short Stature-Intellectual Disability-Eye Anomalies-Cleft Lip/palate Syndrome 14 0.027
461
8P1001 8p11.2 Deletion Syndrome 14 0.027
462
CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 13 0.027
463
CRB129 Cerebro-Reno-Digital Syndrome 13 0.027
464
6Q1001 6q16 Deletion Syndrome 13 0.027
465
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 13 0.027
466
HMC036 Homocystinuria Without Methylmalonic Aciduria 13 0.027
467
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 13 0.027
468
CTR007 Cataract Ataxia Deafness 13 0.027
469
XLN077 X-Linked Immunoneurologic Disorder 13 0.027
470
WLL007 Wells-Jankovic Syndrome 12 0.027
471
VND003 Van Den Bosch Syndrome 12 0.027
472
CHR171 Choroideremia Hypopituitarism 11 0.027
473
CRM007 Crome Syndrome 11 0.027
474
c SYN028 Syngnathia Multiple Anomalies 11 0.027
475
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 11 0.027
476
OLV003 Olivopontocerebellar Atrophy Deafness 10 0.027
477
BNG068 Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia 10 0.027
478
FTL019 Fetal Iodine Syndrome 10 0.027
479
TRC107 Trichodermal Syndrome-Intellectual Disability Syndrome 9 0.027
480
DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 9 0.027
481
ARC021 Auriculoocular Anomalies-Cleft Lip Syndrome 9 0.027
482
BRC043 Brachymetapody Anodontia Hypotrichosis Albinoidism 8 0.027
483
P OST002 Osteoporosis 76 0.019
484
c DLT002 Dilated Cardiomyopathy 72 0.019
485
NRL016 Neural Tube Defects 72 0.019
486
CRH001 Crohn's Disease 71 0.019
487
P RTT002 Rett Syndrome 71 0.019
488
P MRF001 Marfan Syndrome 70 0.019
489
P FLL037 Follicular Lymphoma 70 0.019
490
P LYN001 Lynch Syndrome 69 0.019
491
P HMC003 Hemochromatosis 69 0.019
492
GST019 Gastrointestinal Stromal Tumor 68 0.019
493
WLS001 Wilson Disease 68 0.019
494
P TYS001 Tay-Sachs Disease 68 0.019
495
P FML011 Familial Adenomatous Polyposis 67 0.019
496
P INF038 Influenza 67 0.019
497
c LKM061 Leukemia, Acute Myeloid 66 0.019
498
P KRB001 Krabbe Disease 66 0.019
499
TTR001 Tetralogy of Fallot 66 0.019
500
KPS004 Kaposi Sarcoma 66 0.019
501
P KRT004 Keratitis 66 0.019
502
ACH004 Achondroplasia 65 0.019
503
MYL009 Myelodysplastic Syndrome 65 0.019
504
c JVN010 Juvenile Rheumatoid Arthritis 65 0.019
505
P FRG001 Fragile X Syndrome 64 0.019
506
c CNG401 Congenital Heart Disease 64 0.019
507
MLT021 Multiple System Atrophy 64 0.019
508
KWS002 Kawasaki Disease 63 0.019
509
P LKM068 Leukemia, Chronic Myeloid, Somatic 63 0.019
510
PLM001 Pulmonary Tuberculosis 63 0.019
511
BRK010 Burkitt Lymphoma 63 0.019
512
CHL065 Cholangiocarcinoma 62 0.019
513
CHR012 Chronic Granulomatous Disease 62 0.019
514
TNG009 Tongue Squamous Cell Carcinoma 62 0.019
515
c HPT073 Hepatitis C Virus 62 0.019
516
P MYL005 Myelofibrosis 62 0.019
517
OBS002 Obsessive-Compulsive Disorder 62 0.019
518
BRN024 Bronchitis 62 0.019
519
LDD001 Ladd Syndrome 61 0.019
520
LSC001 Lesch-Nyhan Syndrome 61 0.019
521
ESP021 Esophageal Cancer 61 0.019
522
OST085 Osteosarcoma, Somatic 61 0.019
523
LSH001 Leishmaniasis 61 0.019
524
OTT002 Otitis Media 60 0.019
525
ALC007 Alcohol Dependence 60 0.019
526
MYC006 Mycosis Fungoides 60 0.019
527
P TBR001 Tuberous Sclerosis 60 0.019
528
P LVR013 Liver Disease 60 0.019
529
PRT036 Peritonitis 59 0.019
530
P ATR011 Atrial Fibrillation 59 0.019
531
MTC007 Mitochondrial Complex I Deficiency 59 0.019
532
P NRF002 Neurofibromatosis 59 0.019
533
P LPS004 Lupus Erythematosus 59 0.019
534
c BSL007 Basal Cell Carcinoma 59 0.019
535
CHR103 Charge Syndrome 59 0.019
536
P ATS007 Autism Spectrum Disorder 59 0.019
537
THR006 Thromboangiitis Obliterans 59 0.019
538
P ASP006 Aspergillosis 58 0.019
539
ATP002 Atopy 58 0.019
540
LPT001 Leptospirosis 58 0.019
541
P PSR002 Psoriasis 58 0.019
542
SKN016 Skin Disease 58 0.019
543
P MCH002 Machado-Joseph Disease 58 0.019
544
ATS001 Autistic Disorder 58 0.019
545
P TXP001 Toxoplasmosis 57 0.019
546
P WLD002 Waldenstrom Macroglobulinemia 57 0.019
547
P GNG009 Gangliosidosis 57 0.019
548
INC021 Incontinentia Pigmenti 57 0.019
549
P CNG015 Congenital Diaphragmatic Hernia 57 0.019
550
HMT002 Hematologic Cancer 57 0.019
551
ART005 Arteriovenous Malformation 57 0.019
552
BLL006 Bullous Pemphigoid 57 0.019
553
c HMP004 Hemophilia B 57 0.019
554
c CNG006 Congenital Hypothyroidism 56 0.019
555
FCL009 Focal Dermal Hypoplasia 56 0.019
556
TTN003 Tetanus 56 0.019
557
P EHL001 Ehlers-Danlos Syndrome 56 0.019
558
c LKM062 Leukemia, Acute Lymphoblastic 56 0.019
559
P FCL005 Focal Segmental Glomerulosclerosis 55 0.019
560
P NPH012 Nephrotic Syndrome 55 0.019
561
OVR029 Ovarian Hyperstimulation Syndrome 55 0.019
562
ACQ007 Acquired Immunodeficiency Syndrome 55 0.019
563
P HYP061 Hypertrophic Cardiomyopathy 55 0.019
564
P ADD001 Addison's Disease 55 0.019
565
P THL005 Thalassemia 55 0.019
566
P GST044 Gastritis 55 0.019
567
PLS007 Plasmodium Falciparum Malaria 55 0.019
568
P LCH002 Lichen Planus 55 0.019
569
P STC001 Stickler Syndrome 55 0.019
570
CRB039 Cerebrovascular Disease 55 0.019
571
P THR015 Thrombophilia 54 0.019
572
P CNV004 Canavan Disease 54 0.019
573
HMR004 Hemorrhagic Fever with Renal Syndrome 54 0.019
574
CHL123 Chlamydia 54 0.019
575
APP008 Appendicitis 54 0.019
576
P MYP004 Myopathy 54 0.019
577
P HYP020 Hyperprolactinemia 54 0.019
578
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 54 0.019
579
MGR028 Migraine with or Without Aura 1 54 0.019
580
P BCK002 Beckwith-Wiedemann Syndrome 54 0.019
581
P MCP010 Mucopolysaccharidosis 54 0.019
582
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 53 0.019
583
PSD014 Pseudopseudohypoparathyroidism 53 0.019
584
P ANT006 Antiphospholipid Syndrome 53 0.019
585
RHB003 Rhabdomyosarcoma 53 0.019
586
P SJG001 Sjogren's Syndrome 53 0.019
587
P GT001 Gout 53 0.019
588
P HRD004 Hereditary Breast Ovarian Cancer 53 0.019
589
TNG003 Tongue Cancer 53 0.019
590
P CNG001 Congenital Myasthenic Syndrome 53 0.019
591
P GRV001 Graves' Disease 53 0.019
592
MCR013 Microphthalmia 53 0.019
593
SPT005 Spotted Fever 53 0.019
594
c LCL006 Localized Scleroderma 53 0.019
595
CHR003 Cherubism 53 0.019
596
VSC011 Vasculitis 53 0.019
597
GNG013 Gingivitis 52 0.019
598
ACR008 Acrocallosal Syndrome 52 0.019
599
GLB001 Gilbert Syndrome 52 0.019
600
PRD007 Periodontal Disease 52 0.019
601
CLB001 Coloboma 52 0.019
602
ETN001 Eating Disorder 52 0.019
603
HRY003 Hairy Cell Leukemia 52 0.019
604
P EPD002 Epidermolytic Hyperkeratosis 52 0.019
605
HSH003 Hashimoto Thyroiditis 52 0.019
606
P RST002 Restrictive Cardiomyopathy 52 0.019
607
c BRD010 Bardet-Biedl Syndrome 1 52 0.019
608
P PRM011 Primary Ciliary Dyskinesia 52 0.019
609
IRR002 Irritable Bowel Syndrome 52 0.019
610
CMM005 Common Cold 52 0.019
611
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 52 0.019
612
MVL001 Mevalonic Aciduria 51 0.019
613
c ACT075 Acute Myocardial Infarction 51 0.019
614
P PLY018 Polycythemia 51 0.019
615
P SPN052 Spondyloarthropathy 51 0.019
616
c ADL017 Adult T-Cell Leukemia 51 0.019
617
P DRM007 Dermatitis Herpetiformis 51 0.019
618
c THR092 Thrombophilia Due to Thrombin Defect 51 0.019
619
GLL032 Galloway-Mowat Syndrome 51 0.019
620
BRN003 Branchiooculofacial Syndrome 51 0.019
621
BRN002 Bronchiolitis 51 0.019
622
BLD087 Bladder Cancer, Somatic 51 0.019
623
P ACT074 Acute Lymphocytic Leukemia 51 0.019
624
P NRV007 Nervous System Disease 51 0.019
625
P EPD009 Epidermolysis Bullosa Dystrophica 51 0.019
626
CRD119 Cardiac Arrest 51 0.019
627
RHM027 Rheumatic Disease 51 0.019
628
P INT001 Intrahepatic Cholestasis 50 0.019
629
P MMP001 Mumps 50 0.019
630
SPT004 Septic Arthritis 50 0.019
631
P LMY004 Leiomyosarcoma 50 0.019
632
ACH005 Achalasia 50 0.019
633
ALL008 Allergic Bronchopulmonary Aspergillosis 50 0.019
634
VGT001 Vogt-Koyanagi-Harada Disease 50 0.019
635
P LRY016 Laryngeal Carcinoma 50 0.019
636
EMB004 Embryonal Carcinoma 50 0.019
637
P HMP007 Hemophilia 50 0.019
638
P SPN301 Spinocerebellar Ataxia 2 50 0.019
639
P PRM006 Primary Biliary Cirrhosis 50 0.019
640
TRN018 Transitional Cell Carcinoma 50 0.019
641
OCL008 Oculopharyngeal Muscular Dystrophy 50 0.019
642
DJR004 Dejerine-Sottas Disease 50 0.019
643
EPD001 Epidermodysplasia Verruciformis 50 0.019
644
CHR029 Choroid Plexus Papilloma 50 0.019
645
DBT062 Diabetic Foot Ulcers 50 0.019
646
OCL022 Ocular Melanoma 50 0.019
647
P ANP001 Anaplastic Large Cell Lymphoma 50 0.019
648
BRT005 Barth Syndrome 49 0.019
649
DFF005 Diffuse Large B-Cell Lymphoma 49 0.019
650
INS001 Insulinoma 49 0.019
651
c ATX006 Ataxia-Telangiectasia-Like Disorder 49 0.019
652
P AVS004 Avascular Necrosis of the Femoral Head 49 0.019
653
P APL006 Aplasia Cutis Congenita 49 0.019
654
P DGR001 Digeorge Syndrome 49 0.019
655
CMP002 Campylobacteriosis 49 0.019
656
GNT003 Genital Herpes 49 0.019
657
P HYP040 Hypospadias 49 0.019
658
PLM034 Pulmonary Emphysema 49 0.019
659
c MNN025 Mannosidosis, Alpha-, Types I and Ii 49 0.019
660
c ACT073 Acute Leukemia 49 0.019
661
P CYS018 Cystitis 49 0.019
662
MSC077 Muscle Eye Brain Disease 49 0.019
663
PSD002 Pseudotumor Cerebri 49 0.019
664
RSP006 Respiratory System Disease 49 0.019
665
c BCT007 Bacterial Meningitis 48 0.019
666
MGK001 Megakaryocytic Leukemia 48 0.019
667
P MST009 Mastocytosis 48 0.019
668
DFC004 Deficiency Anemia 48 0.019
669
ENT003 Enterobiasis 48 0.019
670
NSP002 Nasopharyngitis 48 0.019
671
HDR002 Hidradenitis Suppurativa 48 0.019
672
P OTS001 Otosclerosis 48 0.019
673
P NRV006 Nervous System Cancer 48 0.019
674
CNN005 Connective Tissue Disease 48 0.019
675
INT079 Intrahepatic Cholangiocarcinoma 48 0.019
676
ALL009 Allergic Conjunctivitis 48 0.019
677
CRN248 Craniofrontonasal Dysplasia 48 0.019
678
BRN038 Bronchial Disease 48 0.019
679
CLN015 Colon Adenocarcinoma 48 0.019
680
ANG020 Angiosarcoma 48 0.019
681
SFT003 Soft Tissue Sarcoma 48 0.019
682
BLM002 Bulimia Nervosa 48 0.019
683
CHC001 Chickenpox 48 0.019
684
BRX001 Bruxism 48 0.019
685
P STS008 Sotos Syndrome 1 47 0.019
686
c MLG077 Malignant Peripheral Nerve Sheath Tumor 47 0.019
687
PGM001 Pigmented Villonodular Synovitis 47 0.019
688
ONC002 Onchocerciasis 47 0.019
689
P ANG015 Angioedema 47 0.019
690
DBW001 Dubowitz Syndrome 47 0.019
691
CYT008 Cytomegalovirus Infection 47 0.019
692
GST033 Gestational Diabetes 47 0.019
693
ESP020 Esophageal Atresia 47 0.019
694
DPH001 Diphtheria 47 0.019
695
PRP030 Purpura 47 0.019
696
ACT049 Acute Disseminated Encephalomyelitis 47 0.019
697
c HPT003 Hepatitis a 47 0.019
698
P CNG010 Congenital Stationary Night Blindness 47 0.019
699
P HMR012 Hemorrhagic Fever 47 0.019
700
KRT006 Keratoconjunctivitis 47 0.019
701
LMB002 Lambert-Eaton Myasthenic Syndrome 47 0.019
702
PTN002 Patent Ductus Arteriosus 47 0.019
703
GRF001 Graft-Versus-Host Disease, Protection Against 47 0.019
704
P HRP009 Herpes Simplex Encephalitis 47 0.019
705
P SLP006 Sleep Apnea 47 0.019
706
DBF001 D-Bifunctional Protein Deficiency 47 0.019
707
c PST041 Posterior Urethral Valves 47 0.019
708
FCS012 Facioscapulohumeral Muscular Dystrophy 1 47 0.019
709
P RTN025 Retinoschisis 46 0.019
710
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 46 0.019
711
RNL007 Renal Tubular Acidosis 46 0.019
712
END021 Endomyocardial Fibrosis 46 0.019
713
PTT006 Pituitary Adenoma 46 0.019
714
BNM001 Bone Marrow Cancer 46 0.019
715
RTN017 Retinal Detachment 46 0.019
716
SZR001 Sezary's Disease 46 0.019
717
TRC010 Trichotillomania 46 0.019
718
GRS011 Gerstmann-Straussler Disease 46 0.019
719
EPD006 Epidermolysis Bullosa Acquisita 46 0.019
720
BBS001 Babesiosis 46 0.019
721
BRS051 Breast Disease 46 0.019
722
c ORF040 Orofaciodigital Syndrome Viii 46 0.019
723
PLG002 Plague 46 0.019
724
c SPR009 Sporadic Breast Cancer 46 0.019
725
SPN019 Spondylolisthesis 46 0.019
726
MTC020 Mitochondrial Complex Ii Deficiency 46 0.019
727
HYP266 Hypoxia 46 0.019
728
P DBT005 Diabetes Insipidus 46 0.019
729
GST037 Gastroparesis 46 0.019
730
ORL013 Oral Lichen Planus 45 0.019
731
c SPN314 Spinocerebellar Ataxia 10 45 0.019
732
P LTR001 Lateral Sclerosis 45 0.019
733
P DRR001 Diarrhea 45 0.019
734
P AGN002 Agnosia 45 0.019
735
P ATR002 Atransferrinemia 45 0.019
736
PLM017 Pulmonary Alveolar Microlithiasis 45 0.019
737
c SPN312 Spinocerebellar Ataxia 14 45 0.019
738
OCL009 Ocular Cancer 45 0.019
739
TRM010 Traumatic Brain Injury 45 0.019
740
PRT011 Protein C Deficiency 45 0.019
741
c ANT034 Anterior Uveitis 45 0.019
742
c ATS308 Autosomal Dominant Cerebellar Ataxia 45 0.019
743
ART002 Arts Syndrome 45 0.019
744
WST005 West Nile Virus 45 0.019
745
CRY004 Cryoglobulinemia 45 0.019
746
MCR004 Macroglobulinemia 45 0.019
747
c XRD015 Xeroderma Pigmentosum, Group F 45 0.019
748
CHN016 Cohen Syndrome 45 0.019
749
INT075 Intracranial Hypertension 45 0.019
750
DRG011 Drug Addiction 45 0.019
751
P SCL015 Scleritis 45 0.019
752
EPS004 Episodic Ataxia/myokymia Syndrome 45 0.019
753
CHL068 Cholestasis 45 0.019
754
HMM003 Hemimegalencephaly 44 0.019
755
P SLL003 Salla Disease 44 0.019
756
LYM040 Lymphoblastic Lymphoma 44 0.019
757
RYS001 Reye Syndrome 44 0.019
758
SNS001 Sensorineural Hearing Loss 44 0.019
759
PRR002 Pure Red-Cell Aplasia 44 0.019
760
SLT008 Solitary Fibrous Tumor 44 0.019
761
FVS001 Favism 44 0.019
762
URN003 Urinary Schistosomiasis 44 0.019
763
INC001 Incontinentia Pigmenti Achromians 44 0.019
764
P INT143 Interstitial Cystitis 44 0.019
765
HPR003 Heparin-Induced Thrombocytopenia 44 0.019
766
c SPN291 Spinocerebellar Ataxia 7 44 0.019
767
P CLL015 Collagen Disease 44 0.019
768
c CRD167 Cardiofaciocutaneous Syndrome 4 44 0.019
769
ALL026 Allergic Hypersensitivity Disease 44 0.019
770
PRD019 Periodic Fever, Familial 44 0.019
771
WRN002 Wernicke-Korsakoff Syndrome 44 0.019
772
P NGH001 Night Blindness 44 0.019
773
P PNL012 Penile Cancer 44 0.019
774
P INT070 Intestinal Obstruction 44 0.019
775
RTN018 Retinal Disease 44 0.019
776
TRC023 Trichinosis 44 0.019
777
SPN051 Spondylitis 43 0.019
778
P MLT074 Multiple Endocrine Neoplasia 43 0.019
779
ESP023 Esophageal Disease 43 0.019
780
CHR005 Chorioamnionitis 43 0.019
781
ORL011 Oral Cancer 43 0.019
782
TBR006 Tuberculoid Leprosy 43 0.019
783
CRC001 Cercarial Dermatitis 43 0.019
784
c CNG415 Congenital Disorder of Glycosylation, Type Ia 43 0.019
785
P END046 Endometritis 43 0.019
786
c HRM005 Hermansky-Pudlak Syndrome 1 43 0.019
787
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.019
788
BRN071 Brain Injury 43 0.019
789
PPL021 Papilledema 43 0.019
790
HMN009 Hemangioblastoma 43 0.019
791
P PRN026 Porencephaly 43 0.019
792
PNM013 Pneumococcal Meningitis 43 0.019
793
CRV040 Cervix Carcinoma 43 0.019
794
P CRN028 Corneal Ulcer 43 0.019
795
PRN023 Prion Disease 42 0.019
796
c ACT009 Acute Monocytic Leukemia 42 0.019
797
BRN080 Brain Ischemia 42 0.019
798
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 42 0.019
799
LFT009 Left Ventricular Outflow Tract Obstruction 42 0.019
800
SPN035 Spindle Cell Sarcoma 42 0.019
801
FRZ001 Frozen Shoulder 42 0.019
802
P ESN008 Eosinophilic Pneumonia 42 0.019
803
DNR002 Duane-Radial Ray Syndrome 42 0.019
804
P PLM006 Pulmonary Alveolar Proteinosis 42 0.019
805
c GRV008 Graves Disease 1 42 0.019
806
c SCN036 Secondary Progressive Multiple Sclerosis 42 0.019
807
MYL003 Myeloid Sarcoma 42 0.019
808
ANG054 Angina Pectoris 42 0.019
809
CHR001 Churg-Strauss Syndrome 42 0.019
810
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 42 0.019
811
BCT004 Bacteriuria 42 0.019
812
SPP008 Suppurative Otitis Media 42 0.019
813
HMG005 Hemoglobinopathy 42 0.019
814
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 42 0.019
815
c INV001 Invasive Aspergillosis 42 0.019
816
HLL004 Hellp Syndrome 42 0.019
817
c CHR086 Chronic Conjunctivitis 42 0.019
818
MMB002 Membranous Glomerulonephritis 41 0.019
819
BRD004 Borderline Personality Disorder 41 0.019
820
SBS004 Substance Dependence 41 0.019
821
c SPN286 Spinocerebellar Ataxia 40 41 0.019
822
ESN011 Eisenmenger Syndrome 41 0.019
823
DNT016 Dentatorubro-Pallidoluysian Atrophy 41 0.019
824
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 41 0.019
825
ANG002 Angiostrongyliasis 41 0.019
826
c SPN296 Spinocerebellar Ataxia 17 41 0.019
827
TRC040 Tracheoesophageal Fistula 41 0.019
828
FLL008 Folliculitis 41 0.019
829
DYS022 Dyschromatosis Symmetrica Hereditaria 41 0.019
830
EXT033 Extrapulmonary Tuberculosis 41 0.019
831
RNL011 Renal Osteodystrophy 41 0.019
832
c INT064 Intermediate Uveitis 41 0.019
833
AZS001 Azoospermia 41 0.019
834
c WRD020 Waardenburg Syndrome, Type 4a 41 0.019
835
CHR031 Chromoblastomycosis 41 0.019
836
BCT015 Bacteremia 41 0.019
837
PPL018 Papillary Adenocarcinoma 41 0.019
838
CHN004 Chondroblastoma 41 0.019
839
STS002 Situs Inversus 41 0.019
840
GND002 Gender Identity Disorder 41 0.019
841
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 40 0.019
842
INT054 Intraocular Lymphoma 40 0.019
843
P PRC048 Precursor B-Cell Acute Lymphoblastic Leukemia 40 0.019
844
PYM001 Pyomyositis 40 0.019
845
VLL003 Villonodular Synovitis 40 0.019
846
VLV044 Vulvar Intraepithelial Neoplasia 40 0.019
847
SLD003 Sialadenitis 40 0.019
848
c HRM012 Hermansky-Pudlak Syndrome 9 40 0.019
849
HYP017 Hypophosphatemia 40 0.019
850
AML001 Amelanotic Melanoma 40 0.019
851
PRP080 Peripheral Artery Disease 40 0.019
852
PNM008 Pneumothorax 40 0.019
853
c OPT055 Optic Atrophy Plus Syndrome 40 0.019
854
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 40 0.019
855
RCR004 Recurrent Respiratory Papillomatosis 40 0.019
856
TRP008 Tropical Calcific Pancreatitis 40 0.019
857
CHL061 Childhood Leukemia 40 0.019
858
DPM001 Dopamine Beta-Hydroxylase Deficiency 40 0.019
859
VRN004 Vernal Keratoconjunctivitis 40 0.019
860
PRC003 Proctitis 40 0.019
861
DSC009 Discoid Lupus Erythematosus 40 0.019
862
DND001 Dandy-Walker Syndrome 40 0.019
863
KMR001 Kimura Disease 40 0.019
864
PLM035 Pulmonary Eosinophilia 40 0.019
865
P MSC033 Muscle Disorders 39 0.019
866
CHL004 Cholelithiasis 39 0.019
867
MLK006 Milk Allergy 39 0.019
868
ANG011 Angiodysplasia 39 0.019
869
c CNG027 Congenital Hemolytic Anemia 39 0.019
870
HYP043 Hyperandrogenism 39 0.019
871
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39 0.019
872
c HRD026 Hereditary Ataxia 39 0.019
873
ASC002 Ascariasis 39 0.019
874
INV006 Inverted Papilloma 39 0.019
875
PRT019 Protein-Losing Enteropathy 39 0.019
876
HDR003 Hidradenitis 39 0.019
877
P PRS062 Persistent Hyperplastic Primary Vitreous 39 0.019
878
PRS115 Prosthetic Joint Infection 39 0.019
879
P SDR002 Siderosis 39 0.019
880
c BPL002 Bipolar I Disorder 39 0.019
881
GRW007 Growth Hormone Deficiency 39 0.019
882
MTC057 Mitochondrial Recessive Ataxia Syndrome 39 0.019
883
DRF001 Dirofilariasis 39 0.019
884
LTX001 Latex Allergy 39 0.019
885
SPL018 Splenomegaly 39 0.019
886
P EPT012 Epithelioid Sarcoma 39 0.019
887
UPP004 Upper Respiratory Tract Disease 39 0.019
888
ADN022 Adenylosuccinase Deficiency 39 0.019
889
P AFB001 Afibrinogenemia 39 0.019
890
ARC007 Arachnoid Cysts 39 0.019
891
P LSS027 Lissencephaly, X-Linked 39 0.019
892
CHN010 Chondroma 39 0.019
893
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 39 0.019
894
P RPD001 Rapidly Progressive Glomerulonephritis 39 0.019
895
MRP001 Morphine Dependence 38 0.019
896
HMC006 Homocystinuria Due to Mthfr Deficiency 38 0.019
897
PRV004 Periventricular Leukomalacia 38 0.019
898
INT221 Intravascular Large B-Cell Lymphoma 38 0.019
899
HRT007 Heart Cancer 38 0.019
900
STT002 Status Asthmaticus 38 0.019
901
MCR018 Microcytic Anemia 38 0.019
902
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 38 0.019
903
RGH001 Right Bundle Branch Block 38 0.019
904
BCK006 Back Pain 38 0.019
905
c CCK006 Cockayne Syndrome, Type B 38 0.019
906
PLR006 Pleural Cancer 38 0.019
907
MCR020 Microsporidiosis 38 0.019
908
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 38 0.019
909
ESN006 Eosinophilic Meningitis 38 0.019
910
BRN106 Burns 38 0.019
911
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 38 0.019
912
PRS034 Parasitic Helminthiasis Infectious Disease 38 0.019
913
PRM004 Primary Amebic Meningoencephalitis 38 0.019
914
MNC006 Monoclonal Gammopathy of Uncertain Significance 38 0.019
915
SKL001 Skeletal Tuberculosis 38 0.019
916
SPL006 Splenic Infarction 38 0.019
917
TRN012 Transient Global Amnesia 38 0.019
918
c SPN290 Spinocerebellar Ataxia 15 38 0.019
919
ANV001 Anovulation 38 0.019
920
VLV020 Vulvar Melanoma 38 0.019
921
P SYR001 Syringomyelia 38 0.019
922
c SCN005 Secondary Hypertrophic Osteoarthropathy 38 0.019
923
VTR005 Vitreous Disease 38 0.019
924
MTC054 Mitochondrial Dna Depletion Syndrome 7 38 0.019
925
ESN004 Eosinophilic Gastritis 38 0.019
926
P ESP035 Esophagitis, Eosinophilic, 1 38 0.019
927
c OPT053 Optic Atrophy 1 37 0.019
928
P INT191 Intestinal Lymphangiectasia 37 0.019
929
LKM001 Leukemoid Reaction 37 0.019
930
URT001 Urethritis 37 0.019
931
FBR009 Fibrous Dysplasia 37 0.019
932
LMB050 Limbal Stem Cell Deficiency 37 0.019
933
OCC001 Occupational Dermatitis 37 0.019
934
c CHR037 Chronic Eosinophilic Pneumonia 37 0.019
935
MYL001 Myelitis 37 0.019
936
PNC085 Penicillin Allergy 37 0.019
937
P HRD018 Hair Disease 37 0.019
938
PLC001 Placenta Accreta 37 0.019
939
c MCL013 Mucolipidosis Iv 37 0.019
940
CHR056 Chronic Tic Disorder 37 0.019
941
P CHR345 Chronic Pain 37 0.019
942
PLS025 Plasmablastic Lymphoma 37 0.019
943
CRY001 Cryptogenic Organizing Pneumonia 36 0.019
944
LYM011 Lymphogranuloma Venereum 36 0.019
945
OST006 Osteoblastoma 36 0.019
946
SYS003 Systolic Heart Failure 36 0.019
947
c CTR130 Cataract 9, Multiple Types 36 0.019
948
INT042 Internuclear Ophthalmoplegia 36 0.019
949
GLM011 Glomerulosclerosis 36 0.019
950
VRN001 Vernal Conjunctivitis 36 0.019
951
LBM003 Lobomycosis 36 0.019
952
c SPN106 Spinocerebellar Ataxia 5 36 0.019
953
c JVN003 Juvenile Xanthogranuloma 36 0.019
954
CNJ012 Conjunctival Disease 36 0.019
955
RMS001 Rem Sleep Behavior Disorder 36 0.019
956
CMB003 Combined T Cell and B Cell Immunodeficiency 36 0.019
957
CTN013 Cutaneous Anthrax 36 0.019
958
AMB002 Amblyopia 36 0.019
959
P CHR562 Chronic Myelocytic Leukemia 36 0.019
960
c EST002 Estrogen-Receptor Negative Breast Cancer 36 0.019
961
CWM001 Cow Milk Allergy 36 0.019
962
c LBR029 Leber Congenital Amaurosis 17 36 0.019
963
c CRB101 Cerebrooculofacioskeletal Syndrome 1 36 0.019
964
MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 36 0.019
965
EST005 Esotropia 36 0.019
966
FLL031 Follicular Adenoma 35 0.019
967
EXF003 Exfoliative Dermatitis 35 0.019
968
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 35 0.019
969
DRG002 Drug-Induced Hepatitis 35 0.019
970
ATP013 Atopic Keratoconjunctivitis 35 0.019
971
c SPN100 Spinocerebellar Ataxia 27 35 0.019
972
c ADL052 Adult Acute Lymphocytic Leukemia 35 0.019
973
FNC007 Functioning Pituitary Adenoma 35 0.019
974
DMP001 Dumping Syndrome 35 0.019
975
PLL012 Pollen Allergy 35 0.019
976
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 35 0.019
977
HMP009 Haemophilus Influenzae 35 0.019
978
EGG001 Egg Allergy 35 0.019
979
CRV045 Cervical Intraepithelial Neoplasia 35 0.019
980
c PRR026 Perrault Syndrome 5 35 0.019
981
LKC003 Leukocyte Disease 35 0.019
982
CLP006 Clopidogrel Resistance 35 0.019
983
GLC009 Glucosephosphate Dehydrogenase Deficiency 35 0.019
984
RCH001 Richter's Syndrome 35 0.019
985
ANL022 Anal Fistula 35 0.019
986
ANN005 Annular Pancreas 35 0.019
987
CRB027 Cerebellar Disease 35 0.019
988
WST002 Western Equine Encephalitis 34 0.019
989
P STR021 Struma Ovarii 34 0.019
990
INT040 Intrinsic Asthma 34 0.019
991
ANS006 Anosognosia 34 0.019
992
P SPL037 Split Hand Foot Malformation 34 0.019
993
c PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 34 0.019
994
ANT061 Antenatal Bartter Syndrome 34 0.019
995
RTC005 Reticulosarcoma 34 0.019
996
P 3MT007 3-Methylglutaconic Aciduria 34 0.019
997
HYP015 Hyperlucent Lung 34 0.019
998
HDR004 Hidradenoma 34 0.019
999
BLR008 Bilirubin Metabolic Disorder 34 0.019
1000
WRT003 Warthin Tumor 34 0.019
1001
c SPN103 Spinocerebellar Ataxia 31 34 0.019
1002
NSY001 N Syndrome 34 0.019
1003
c HRM006 Hermansky-Pudlak Syndrome 3 34 0.019
1004
SPL007 Splenic Abscess 34 0.019
1005
c CCK005 Cockayne Syndrome, Type a 34 0.019
1006
NSD001 Nose Disease 34 0.019
1007
c CNG033 Congenital Syphilis 34 0.019
1008
CLB003 Coloboma of Optic Nerve 34 0.019
1009
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 34 0.019
1010
c CRN139 Cornelia De Lange Syndrome 1 34 0.019
1011
LTR003 Lateral Medullary Syndrome 34 0.019
1012
GRN007 Granuloma Annulare 33 0.019
1013
LYM067 Lymphoid Leukemia 33 0.019
1014
STM006 Stomach Disease 33 0.019
1015
c SPS079 Spastic Paraplegia 2 33 0.019
1016
RTN175 Retinitis Pigmentosa 7 and Digenic 33 0.019
1017
DRM013 Dermoid Cyst 33 0.019
1018
P LBY004 Labyrinthitis 33 0.019
1019
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 33 0.019
1020
ECT003 Ectopic Thymus 33 0.019
1021
WLL004 Wallerian Degeneration 33 0.019
1022
CHL040 Cholangiolocellular Carcinoma 33 0.019
1023
LND001 Landau-Kleffner Syndrome 33 0.019
1024
XRP001 Xerophthalmia 33 0.019
1025
UTR043 Uterine Sarcoma 33 0.019
1026
GNG002 Ganglioneuroma 33 0.019
1027
CHR174 Christianson Syndrome 33 0.019
1028
ACT058 Active Peptic Ulcer Disease 33 0.019
1029
HPT070 Hepatosplenic T-Cell Lymphoma 33 0.019
1030
CNT060 Central Serous Chorioretinopathy 33 0.019
1031
GNT006 Giant Papillary Conjunctivitis 33 0.019
1032
HYP007 Hypermobility Syndrome 33 0.019
1033
HYP016 Hypochondriasis 33 0.019
1034
P TRN034 Transverse Myelitis 33 0.019
1035
NSL022 Nasal Cavity Disease 33 0.019
1036
XLN003 X-Linked Sideroblastic Anemia with Ataxia 33 0.019
1037
NCT001 Necatoriasis 33 0.019
1038
URT020 Ureterocele 32 0.019
1039
HMN016 Hemangioendothelioma 32 0.019
1040
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 32 0.019
1041
c ACR088 Aicardi-Goutieres Syndrome 3 32 0.019
1042
P TRS004 Torsion Dystonia 32 0.019
1043
P HYP265 Hypotonia 32 0.019
1044
GRN017 Granulocytopenia 32 0.019