Search results for "nystagmus"

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

1193 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
c NYS017 Nystagmus 1, Congenital, X-Linked 28 5.417
2
P XLN065 X-Linked Infantile Nystagmus 23 4.650
3
P CNG024 Congenital Nystagmus 37 4.224
4
VST003 Vestibular Nystagmus 29 3.668
5
c NYS013 Nystagmus 6, Congenital, X-Linked 23 3.658
6
c FRM005 Frmd7-Related Infantile Nystagmus 12 3.658
7
SPN033 Spontaneous Ocular Nystagmus 25 3.610
8
DSS005 Dissociated Nystagmus 13 3.319
9
c EPS035 Episodic Ataxia, Type 2 51 3.310
10
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 15 3.280
11
SPL021 Split Hand Split Foot Nystagmus 19 3.274
12
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 15 3.274
13
NHS001 Neuhauser Daly Magnelli Syndrome 13 3.243
14
NYS007 Nystagmus, Hereditary Vertical 5 3.228
15
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 13 2.851
16
NYS008 Nystagmus, Myoclonic 4 2.802
17
PTH003 Pathologic Nystagmus 24 2.383
18
BNG018 Benign Paroxysmal Positional Nystagmus 29 2.373
19
c NYS012 Nystagmus 5, Congenital, X-Linked 13 2.344
20
CHR165 Chorea, Remitting with Nystagmus and Cataracts 5 2.315
21
LWR008 Lowry Wood Syndrome 20 2.298
22
P BMN001 Biemond Syndrome 19 2.298
23
CTR020 Cataract, Microphthalmia and Nystagmus 4 2.298
24
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 9 2.288
25
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 12 1.692
26
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 5 1.662
27
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 31 1.643
28
MTN006 Mietens-Weber Syndrome 18 1.643
29
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 3 1.643
30
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4 1.631
31
FGS004 Fg Syndrome 4 24 1.618
32
ODN003 O Donnell Pappas Syndrome 18 1.618
33
MNZ002 Manz Syndrome 7 1.600
34
SLN003 Silengo Lerone Pelizza Syndrome 4 1.600
35
MMN001 Maumenee Syndrome 4 1.600
36
SNG001 Singh Chhaparwal Dhanda Syndrome 3 1.600
37
NRN002 Neuronitis 40 0.123
38
P ATX004 Ataxia 43 0.121
39
P OPH004 Ophthalmoplegia 43 0.115
40
P STR020 Strabismus 47 0.111
41
INT042 Internuclear Ophthalmoplegia 34 0.107
42
ALB002 Albinism 40 0.102
43
SPS087 Spasmus Nutans 21 0.093
44
P TRC086 Trichohepatoenteric Syndrome 1 42 0.088
45
P HRM001 Hermansky-Pudlak Syndrome 62 0.085
46
ANR002 Aniridia 72 0.083
47
P HMP002 Hemophagocytic Lymphohistiocytosis 59 0.080
48
HNT002 Hantavirus Pulmonary Syndrome 52 0.080
49
c PNC108 Pancreatitis, Hereditary 59 0.077
50
EYD002 Eye Disease 54 0.077
51
P SPR013 Spiradenoma 46 0.077
52
RTN023 Retinitis 43 0.077
53
AST006 Astigmatism 34 0.077
54
HYP047 Hypertropia 31 0.077
55
P ANG001 Angelman Syndrome 66 0.071
56
EST005 Esotropia 38 0.071
57
OCL011 Ocular Motility Disease 26 0.071
58
c SPN225 Spondyloarthropathy 1 66 0.067
59
c ART101 Aortic Valve Disease 2 46 0.067
60
VST001 Vestibular Neuronitis 28 0.067
61
P ATX030 Ataxia-Telangiectasia 76 0.064
62
P CTR002 Cataract 48 0.064
63
MYC002 Mycobacterium Avium Complex Disease 46 0.064
64
OPT006 Optic Nerve Disease 39 0.064
65
CRN031 Cranial Nerve Disease 30 0.064
66
FST001 Foster-Kennedy Syndrome 28 0.064
67
AND005 Androgen Insensitivity Syndrome, Mild 19 0.064
68
MTR031 Motor Neuro-Ophthalmic Disorders 6 0.064
69
OCL001 Ocular Albinism 47 0.060
70
THR013 Thoracic Outlet Syndrome 47 0.060
71
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 46 0.060
72
MTN003 Motion Sickness 45 0.060
73
c ALB009 Albinism, Oculocutaneous, Type Ia 45 0.060
74
ADS002 Adie Syndrome 34 0.060
75
HPT074 Hepatic Adenoma, Somatic 30 0.060
76
HNM002 Hinman Syndrome 27 0.060
77
GLB003 Globe Disease 22 0.060
78
c BNG076 Benign Exophthalmos Syndrome 21 0.060
79
c AMY091 Amyotrophic Lateral Sclerosis 1 83 0.056
80
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 75 0.056
81
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.056
82
P CRB042 Cerebellar Ataxia 56 0.056
83
P SPN049 Spinocerebellar Ataxia 54 0.056
84
P OCL002 Oculocutaneous Albinism 48 0.056
85
c ALB021 Albinism, Oculocutaneous, Type Ii 44 0.056
86
P HYP265 Hypotonia 35 0.056
87
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 28 0.056
88
PTR006 Peters Anomaly 63 0.052
89
ACN002 Acanthosis Nigricans 53 0.052
90
BLC001 Blue Cone Monochromacy 43 0.052
91
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 34 0.052
92
MVM001 Movement Disease 31 0.052
93
P ATX010 Ataxia Neuropathy Spectrum 31 0.052
94
ART001 Arterial Tortuosity Syndrome 59 0.048
95
P AND016 Andersen Syndrome 58 0.048
96
P LBR001 Leber Congenital Amaurosis 56 0.048
97
P EPS003 Episodic Ataxia 44 0.048
98
c CTR130 Cataract 9, Multiple Types 39 0.048
99
RFR003 Refractive Error 37 0.048
100
P NRL007 Neurologic Diseases 35 0.048
101
c LBR004 Leber Congenital Amaurosis 1 35 0.048
102
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 31 0.048
103
OCL016 Ocular Albinism, X-Linked 28 0.048
104
P BRD002 Bardet-Biedl Syndrome 68 0.043
105
DWN001 Down Syndrome 62 0.043
106
P EPL002 Epilepsy Syndrome 54 0.043
107
P CNG001 Congenital Myasthenic Syndrome 53 0.043
108
MCR013 Microphthalmia 53 0.043
109
P HYP086 Hypothyroidism 52 0.043
110
MGR028 Migraine with or Without Aura 1 49 0.043
111
P ACH003 Achromatopsia 48 0.043
112
EVN001 Evans' Syndrome 46 0.043
113
LMB002 Lambert-Eaton Myasthenic Syndrome 44 0.043
114
NNC002 Nance-Horan Syndrome 42 0.043
115
P MRN003 Marinesco-Sjogren Syndrome 40 0.043
116
EXT022 Exotropia 38 0.043
117
NRR001 Neuroretinitis 38 0.043
118
c ALB010 Albinism, Oculocutaneous, Type Ib 38 0.043
119
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 33 0.043
120
P CRB059 Cerebellar Degeneration 32 0.043
121
LTR003 Lateral Medullary Syndrome 32 0.043
122
c ALB019 Albinism, Oculocutaneous, Type Iv 31 0.043
123
c LBR017 Leber Congenital Amaurosis 7 29 0.043
124
c ALB020 Albinism, Oculocutaneous, Type Iii 29 0.043
125
c LBR018 Leber Congenital Amaurosis 8 26 0.043
126
P XLN012 X-Linked Congenital Stationary Night Blindness 26 0.043
127
c LBR016 Leber Congenital Amaurosis 6 25 0.043
128
c LBR006 Leber Congenital Amaurosis 11 24 0.043
129
CHR167 Chorioretinal Atrophy, Progressive Bifocal 19 0.043
130
FVL006 Foveal Hypoplasia 1 19 0.043
131
CNT017 Central Nervous System Origin Vertigo 17 0.043
132
P RTN008 Retinitis Pigmentosa 75 0.037
133
MLR004 Malaria 72 0.037
134
SMT004 Smith-Lemli-Opitz Syndrome 67 0.037
135
P RFS001 Refsum Disease 65 0.037
136
P CRD013 Cardiofaciocutaneous Syndrome 65 0.037
137
CNR002 Cone-Rod Dystrophy 64 0.037
138
P WLF004 Wolfram Syndrome 62 0.037
139
CHD001 Chediak-Higashi Syndrome 61 0.037
140
c JBR020 Joubert Syndrome 1 60 0.037
141
P AST007 Astrocytoma 55 0.037
142
P CFF001 Coffin-Siris Syndrome 54 0.037
143
P HLL001 Hallermann-Streiff Syndrome 53 0.037
144
BRJ001 Borjeson-Forssman-Lehmann Syndrome 53 0.037
145
CCH002 Coach Syndrome 53 0.037
146
P TMP003 Temporal Arteritis 53 0.037
147
P ALT001 Alternating Hemiplegia of Childhood 52 0.037
148
CHN055 Chanarin-Dorfman Syndrome 51 0.037
149
ALS001 Alstrom Syndrome 51 0.037
150
SCH016 Schimke Immunoosseous Dysplasia 51 0.037
151
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 50 0.037
152
SNS001 Sensorineural Hearing Loss 49 0.037
153
P ENC004 Encephalitis 48 0.037
154
P FNG005 Feingold Syndrome 48 0.037
155
P CRN108 Cranioectodermal Dysplasia 1 48 0.037
156
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 48 0.037
157
P BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 47 0.037
158
P SLD010 Sialidosis, Type I 46 0.037
159
ACR012 Aicardi Syndrome 46 0.037
160
P MYP006 Myopia 46 0.037
161
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 45 0.037
162
NRL005 Neurilemmoma 45 0.037
163
CTN014 Cutaneous Mastocytosis 45 0.037
164
c SPN309 Spinocerebellar Ataxia 6 45 0.037
165
P NGH001 Night Blindness 43 0.037
166
P DNR001 Duane Retraction Syndrome 43 0.037
167
NRT004 Neuritis 43 0.037
168
DMY004 Demyelinating Disease 43 0.037
169
P TRM003 Tremor 43 0.037
170
P CRV039 Cervicitis 42 0.037
171
P ENC018 Encephalopathy 42 0.037
172
P CNG010 Congenital Stationary Night Blindness 41 0.037
173
LRN001 Laurence-Moon Syndrome 40 0.037
174
JLL001 Jalili Syndrome 40 0.037
175
c HRD026 Hereditary Ataxia 40 0.037
176
MNR002 Meniere's Disease 39 0.037
177
MNN014 Mononeuritis 39 0.037
178
P HMP006 Hemiplegic Migraine 39 0.037
179
P HYP071 Hypersensitivity Reaction Type Ii Disease 38 0.037
180
TTR016 Tetra-Amelia Syndrome 38 0.037
181
CRB009 Cerebritis 37 0.037
182
ALN001 Aland Island Eye Disease 37 0.037
183
FND002 Fundus Dystrophy 37 0.037
184
c MCR263 Microphthalmia, Syndromic 1 36 0.037
185
GPS001 Gapo Syndrome 36 0.037
186
KFM001 Kaufman Oculocerebrofacial Syndrome 36 0.037
187
VCS001 Vici Syndrome 35 0.037
188
MYC033 Myoclonus 35 0.037
189
AMB002 Amblyopia 35 0.037
190
CND005 Cone Dystrophy 34 0.037
191
c SCH069 Schindler Disease, Type I 34 0.037
192
HRD052 Hereditary Mucoepithelial Dysplasia 33 0.037
193
DSM002 Desmosterolosis 33 0.037
194
VST004 Vestibular Disease 32 0.037
195
SPL039 Split Foot 31 0.037
196
c ACH034 Achromatopsia-2 30 0.037
197
SPN331 Spondyloocular Syndrome 30 0.037
198
OCL034 Oculocerebrocutaneous Syndrome 30 0.037
199
PCW002 Pcwh Syndrome 30 0.037
200
SPL040 Split Hand 30 0.037
201
c LBR012 Leber Congenital Amaurosis 2 30 0.037
202
c ACH036 Achromatopsia-3 28 0.037
203
BHR001 Behr Syndrome 28 0.037
204
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 27 0.037
205
TFT003 Tufting Enteropathy 27 0.037
206
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 27 0.037
207
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 26 0.037
208
c SPN104 Spinocerebellar Ataxia 34 26 0.037
209
c ATM017 Autoimmune Disease of the Nervous System 26 0.037
210
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 26 0.037
211
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.037
212
VSL005 Visual Pathway Disease 25 0.037
213
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 25 0.037
214
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 24 0.037
215
c ALB017 Albinism, Oculocutaneous, Type Vi 24 0.037
216
c SPN284 Spinocerebellar Ataxia 38 24 0.037
217
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 24 0.037
218
P SPS133 Spastic Paraplegia 2, X-Linked 24 0.037
219
P OCL012 Ocular Albinism with Sensorineural Deafness 24 0.037
220
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 23 0.037
221
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 22 0.037
222
c ACH025 Achromatopsia-4 22 0.037
223
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 21 0.037
224
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 20 0.037
225
CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 19 0.037
226
NRC016 Neuroectodermal Melanolysosomal Disease 19 0.037
227
c LKD016 Leukodystrophy, Hypomyelinating, 9 18 0.037
228
MYL017 Myelocerebellar Disorder 16 0.037
229
MNC001 Monocular Esotropia 15 0.037
230
c MLT093 Multiple Sclerosis 2 9 0.037
231
P MTC003 Metachromatic Leukodystrophy 72 0.030
232
c FNC027 Fanconi Anemia, Complementation Group a 71 0.030
233
VNH007 Von Hippel-Lindau Syndrome 68 0.030
234
P LGH007 Leigh Syndrome 67 0.030
235
P FRG001 Fragile X Syndrome 66 0.030
236
BSL036 Basal Cell Nevus Syndrome 64 0.030
237
MLT021 Multiple System Atrophy 63 0.030
238
NRR002 Norrie Disease 63 0.030
239
P NNN008 Noonan Syndrome 1 62 0.030
240
P FRD001 Friedreich Ataxia 61 0.030
241
P ALX003 Alexander Disease 61 0.030
242
P MCH002 Machado-Joseph Disease 59 0.030
243
ACR008 Acrocallosal Syndrome 58 0.030
244
P USH001 Usher Syndrome 58 0.030
245
P CRN015 Cornelia De Lange Syndrome 58 0.030
246
P KLL001 Kallmann Syndrome 58 0.030
247
P OCL013 Oculodentodigital Dysplasia 57 0.030
248
WGR001 Wagr Syndrome 55 0.030
249
P HYD006 Hydrocephalus 54 0.030
250
RBR001 Roberts Syndrome 54 0.030
251
BLL001 Baller-Gerold Syndrome 54 0.030
252
FRB001 Farber Lipogranulomatosis 53 0.030
253
KLP010 Klippel-Trenaunay-Weber Syndrome 53 0.030
254
MLK003 Melkersson-Rosenthal Syndrome 53 0.030
255
c SPN294 Spinocerebellar Ataxia 1 52 0.030
256
WLF002 Wolf-Hirschhorn Syndrome 52 0.030
257
DJR004 Dejerine-Sottas Disease 52 0.030
258
CHR105 Choreoacanthocytosis 51 0.030
259
CHL071 Child Syndrome 51 0.030
260
c PRX045 Peroxisome Biogenesis Disorder 1b 50 0.030
261
SPT006 Septooptic Dysplasia 49 0.030
262
c TYR013 Tyrosinemia, Type Ii 49 0.030
263
ERD001 Erdheim-Chester Disease 48 0.030
264
P NRP001 Neuropathy 48 0.030
265
P KBK002 Kabuki Syndrome 1 47 0.030
266
c GNG001 Gangliosidosis Gm1 47 0.030
267
c CNG124 Congenital Rubella 47 0.030
268
P MWT001 Mowat-Wilson Syndrome 47 0.030
269
CGN006 Cogan Syndrome 46 0.030
270
HRT031 Hartnup Disorder 46 0.030
271
RTN018 Retinal Disease 46 0.030
272
c MCL013 Mucolipidosis Iv 46 0.030
273
HYP299 Hyperostosis, Endosteal 46 0.030
274
c INF069 Infantile Neuroaxonal Dystrophy 1 46 0.030
275
SDC002 Sed Congenita 46 0.030
276
ALL001 Allan-Herndon-Dudley Syndrome 46 0.030
277
c LBR014 Leber Congenital Amaurosis 4 46 0.030
278
P GRS003 Griscelli Syndrome 44 0.030
279
c FML023 Familial Hemiplegic Migraine 44 0.030
280
KDS001 Kid Syndrome 44 0.030
281
P PRR025 Perrault Syndrome 44 0.030
282
MRS002 Marshall Syndrome 43 0.030
283
P CNG206 Congenital Disorder of Glycosylation, Type Ie 43 0.030
284
c CNG021 Congenital Toxoplasmosis 43 0.030
285
PPL048 Papillorenal Syndrome 43 0.030
286
P OTS001 Otosclerosis 43 0.030
287
ARC002 Arachnoiditis 43 0.030
288
ADL002 Adult Syndrome 43 0.030
289
DYS018 Dysostosis 43 0.030
290
c USH003 Usher Syndrome Type Ii 42 0.030
291
HDC001 Headache 42 0.030
292
NNT017 Neonatal Adrenoleukodystrophy 42 0.030
293
c CNG412 Congenital Disorder of Glycosylation, Type Ii 42 0.030
294
CRB045 Cerebellar Hypoplasia 40 0.030
295
JBR006 Joubert Syndrome with Oculorenal Anomalies 40 0.030
296
PRS055 Pierson Syndrome 39 0.030
297
c SPN311 Spinocerebellar Ataxia 13 39 0.030
298
ARC007 Arachnoid Cysts 39 0.030
299
P DND001 Dandy-Walker Syndrome 39 0.030
300
HMM003 Hemimegalencephaly 39 0.030
301
NRN008 Neuronal Intranuclear Inclusion Disease 38 0.030
302
WRN003 Wernicke Encephalopathy 38 0.030
303
P CLR019 Color Blindness 37 0.030
304
c SPN304 Spinocerebellar Ataxia 8 37 0.030
305
ALX001 Alexia 36 0.030
306
SPN050 Spinocerebellar Degeneration 35 0.030
307
P PRM108 Primary Progressive Multiple Sclerosis 35 0.030
308
LPD001 Lipid Pneumonia 34 0.030
309
WBR001 Weber Syndrome 33 0.030
310
FRS004 Free Sialic Acid Storage Disorders 33 0.030
311
c GRS013 Griscelli Syndrome, Type 1 33 0.030
312
YNS002 Yunis-Varon Syndrome 33 0.030
313
c ATS282 Autosomal Recessive Malignant Osteopetrosis 32 0.030
314
DVL002 Developmental Disabilities 32 0.030
315
P LBY004 Labyrinthitis 32 0.030
316
OLV004 Oliver-Mcfarlane Syndrome 31 0.030
317
JBR005 Joubert Syndrome with Ocular Anomalies 31 0.030
318
c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 31 0.030
319
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 31 0.030
320
CTR014 Cataract Microcornea Syndrome 31 0.030
321
c SPN305 Spinocerebellar Ataxia 11 30 0.030
322
c LBR009 Leber Congenital Amaurosis 14 30 0.030
323
PRD011 Proud Syndrome 30 0.030
324
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 30 0.030
325
c JVN024 Juvenile Hereditary Hemochromatosis 30 0.030
326
P SCH017 Schindler Disease 30 0.030
327
CHR222 Chromosome 1p36 Deletion Syndrome 30 0.030
328
48X003 48,xxyy Syndrome 30 0.030
329
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 30 0.030
330
JBR034 Joubert Syndrome with Orofaciodigital Defect 29 0.030
331
GZP002 Gaze Palsy, Horizontal, with Progressive Scoliosis 29 0.030
332
c MCR251 Microphthalmia, Syndromic 6 29 0.030
333
CDS002 Codas Syndrome 28 0.030
334
SPP007 Suppression Amblyopia 28 0.030
335
CRN241 Corneal Dystrophy, Congenital Stromal 28 0.030
336
c LBR015 Leber Congenital Amaurosis 5 28 0.030
337
c LBR013 Leber Congenital Amaurosis 3 28 0.030
338
CRB029 Cerebellopontine Angle Tumor 27 0.030
339
CHR518 Chromosome 9p Deletion Syndrome 27 0.030
340
JBR007 Joubert Syndrome with Renal Anomalies 27 0.030
341
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 27 0.030
342
c ATS004 Autosomal Dominant Microcephaly 26 0.030
343
CRB026 Cerebellar Astrocytoma 26 0.030
344
LNS003 Lens Disease 26 0.030
345
RDN001 Reading Disorder 25 0.030
346
c LBR019 Leber Congenital Amaurosis 9 25 0.030
347
P LKD010 Leukodystrophy, Hypomyelinating, 2 25 0.030
348
c LBR010 Leber Congenital Amaurosis 15 25 0.030
349
DNC004 Diencephalic Syndrome 25 0.030
350
c LBR007 Leber Congenital Amaurosis 12 25 0.030
351
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 25 0.030
352
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 25 0.030
353
c KNB004 Knobloch Syndrome, Type 1 24 0.030
354
c FML306 Familial or Sporadic Hemiplegic Migraine 24 0.030
355
c STR085 Striatonigral Degeneration, Infantile 23 0.030
356
c LBR011 Leber Congenital Amaurosis 16 23 0.030
357
c LKD008 Leukodystrophy, Hypomyelinating, 4 23 0.030
358
HMC036 Homocystinuria Without Methylmalonic Aciduria 23 0.030
359
CMB018 Combined Oxidative Phosphorylation Deficiency 7 22 0.030
360
DYS045 Dysosteosclerosis 22 0.030
361
c ALB016 Albinism, Oculocutaneous, Type Vii 22 0.030
362
ATX018 Ataxia, Cerebellar, Cayman Type 22 0.030
363
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 22 0.030
364
16Q001 16q24.3 Microdeletion Syndrome 22 0.030
365
c EPS034 Episodic Ataxia, Type 5 22 0.030
366
c ATS283 Autosomal Recessive Chorioretinopathy-Microcephaly 21 0.030
367
HSH001 Hashimoto-Pritzker Syndrome 20 0.030
368
P DFN296 Deafness-Onychodystrophy Syndrome 20 0.030
369
CNG230 Congenital Cataract - Hypertrophic Cardiomyopathy - Mitochondrial Myopathy 19 0.030
370
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 19 0.030
371
INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 18 0.030
372
NRD013 Neurodegeneration with Optic Atrophy, Childhood Onset 17 0.030
373
19P001 19p13.12 Microdeletion Syndrome 16 0.030
374
c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 16 0.030
375
CDL001 Caudal Appendage Deafness 16 0.030
376
c INF044 Infantile Axonal Neuropathy 16 0.030
377
DST045 Distal Trisomy 6p 16 0.030
378
6Q1001 6q16 Deletion Syndrome 15 0.030
379
c ACH038 Achromatopsia 7 15 0.030
380
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 15 0.030
381
ATM052 Autoimmune Disease 1 15 0.030
382
8P1001 8p11.2 Deletion Syndrome 15 0.030
383
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 0.030
384
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 15 0.030
385
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 15 0.030
386
CTR138 Cataract - Intellectual Disability - Anal Atresia - Urinary Defects 15 0.030
387
CHR171 Choroideremia Hypopituitarism 14 0.030
388
CTR007 Cataract Ataxia Deafness 14 0.030
389
PRT101 Poretti-Boltshauser Syndrome 14 0.030
390
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 13 0.030
391
XLN077 X-Linked Immunoneurologic Disorder 13 0.030
392
VND003 Van Den Bosch Syndrome 13 0.030
393
WLL007 Wells-Jankovic Syndrome 13 0.030
394
CRB129 Cerebro-Reno-Digital Syndrome 12 0.030
395
c SYN028 Syngnathia Multiple Anomalies 12 0.030
396
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 11 0.030
397
OLV003 Olivopontocerebellar Atrophy Deafness 11 0.030
398
TRC089 Trichodermal Syndrome - Intellectual Disability 11 0.030
399
FTL019 Fetal Iodine Syndrome 10 0.030
400
DNN006 Duane Anomaly - Myopathy - Scoliosis 10 0.030
401
BNG068 Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia 10 0.030
402
ARC014 Auriculoocular Anomalies - Cleft Lip 10 0.030
403
CRM007 Crome Syndrome 9 0.030
404
BRC043 Brachymetapody Anodontia Hypotrichosis Albinoidism 8 0.030
405
ATM053 Autoimmune Disease 2 5 0.030
406
CYS001 Cystic Fibrosis 90 0.021
407
c SYS001 Systemic Lupus Erythematosus 90 0.021
408
ULC004 Ulcerative Colitis 75 0.021
409
P KRB001 Krabbe Disease 68 0.021
410
P FML161 Familial Mediterranean Fever, Ar 67 0.021
411
GLL008 Gilles De La Tourette Syndrome 67 0.021
412
P FCL005 Focal Segmental Glomerulosclerosis 65 0.021
413
AND015 Androgen Insensitivity 65 0.021
414
GLN010 Glanzmann Thrombasthenia 65 0.021
415
c JVN010 Juvenile Rheumatoid Arthritis 64 0.021
416
P OST001 Osteopetrosis 63 0.021
417
P KRT004 Keratitis 63 0.021
418
BHC002 Behcet's Disease 63 0.021
419
CHR103 Charge Syndrome 62 0.021
420
ATS001 Autistic Disorder 62 0.021
421
KWS002 Kawasaki Disease 62 0.021
422
MLD001 Melioidosis 61 0.021
423
ALL003 Allergic Rhinitis 61 0.021
424
P LPS004 Lupus Erythematosus 61 0.021
425
P ART022 Arthritis 61 0.021
426
P EHL033 Ehlers-Danlos Syndrome, Classic Type 60 0.021
427
P AXN010 Axenfeld-Rieger Syndrome, Type 3 60 0.021
428
PLM001 Pulmonary Tuberculosis 60 0.021
429
c BRD010 Bardet-Biedl Syndrome 1 59 0.021
430
P MYS003 Myasthenia Gravis 59 0.021
431
WGN006 Wegener Granulomatosis 59 0.021
432
c HPT016 Hepatitis B 59 0.021
433
TYP007 Typhoid Fever 59 0.021
434
PRT036 Peritonitis 58 0.021
435
FCL009 Focal Dermal Hypoplasia 58 0.021
436
LSH001 Leishmaniasis 58 0.021
437
OTT002 Otitis Media 57 0.021
438
BLS001 Blau Syndrome 57 0.021
439
c ATM003 Autoimmune Thyroiditis 57 0.021
440
MTC007 Mitochondrial Complex I Deficiency 57 0.021
441
TKY001 Takayasu's Arteritis 57 0.021
442
P PSR001 Psoriatic Arthritis 57 0.021
443
P ASP006 Aspergillosis 56 0.021
444
LWS003 Lowe Syndrome 56 0.021
445
LYM017 Lyme Disease 56 0.021
446
P PNM007 Pneumonia 56 0.021
447
BRN024 Bronchitis 56 0.021
448
P CNV004 Canavan Disease 56 0.021
449
IMG001 Image Syndrome 56 0.021
450
P RCK004 Rickets 55 0.021
451
P ADL010 Adult Respiratory Distress Syndrome 55 0.021
452
RCT015 Reactive Arthritis 55 0.021
453
ART016 Aortic Aneurysm 55 0.021
454
DNG002 Dengue Hemorrhagic Fever 55 0.021
455
LPT001 Leptospirosis 55 0.021
456
ACQ007 Acquired Immunodeficiency Syndrome 55 0.021
457
BRC012 Brucellosis 55 0.021
458
SCH014 Schistosomiasis 55 0.021
459
ALP007 Alpha 1-Antitrypsin Deficiency 55 0.021
460
MVL001 Mevalonic Aciduria 54 0.021
461
P TXP001 Toxoplasmosis 54 0.021
462
P PRM011 Primary Ciliary Dyskinesia 54 0.021
463
P NRM001 Neuromyelitis Optica 54 0.021
464
P LDD002 Liddle Syndrome 54 0.021
465
ADN018 Adenoma 54 0.021
466
RHM001 Rheumatic Fever 53 0.021
467
CNT047 Contact Dermatitis 53 0.021
468
BRN003 Branchiooculofacial Syndrome 53 0.021
469
P DYS154 Dystonia 53 0.021
470
HMR004 Hemorrhagic Fever with Renal Syndrome 53 0.021
471
CHG001 Chagas Disease 53 0.021
472
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 53 0.021
473
ADL030 Adult-Onset Still's Disease 53 0.021
474
QFV001 Q Fever 53 0.021
475
ALC006 Alcoholic Hepatitis 53 0.021
476
c MNN025 Mannosidosis, Alpha-, Types I and Ii 53 0.021
477
APP015 Apparent Mineralocorticoid Excess 52 0.021
478
VSC003 Visceral Leishmaniasis 52 0.021
479
c ACT210 Acute Respiratory Distress Syndrome 52 0.021
480
P PRD008 Periodontitis 52 0.021
481
APH001 Aphthous Stomatitis 52 0.021
482
c SPN301 Spinocerebellar Ataxia 2 52 0.021
483
P ALP009 Alopecia Areata 52 0.021
484
CRY002 Cryptorchidism 52 0.021
485
c SVR001 Severe Acute Respiratory Syndrome 52 0.021
486
CRN248 Craniofrontonasal Dysplasia 52 0.021
487
RLP001 Relapsing Polychondritis 52 0.021
488
APP008 Appendicitis 52 0.021
489
END030 End Stage Renal Failure 51 0.021
490
P EHL001 Ehlers-Danlos Syndrome 51 0.021
491
STT001 Status Epilepticus 51 0.021
492
PMS001 Poems Syndrome 51 0.021
493
ECH003 Echinococcosis 51 0.021
494
P RTN025 Retinoschisis 51 0.021
495
VLV011 Vulvovaginal Candidiasis 51 0.021
496
LST001 Listeriosis 51 0.021
497
TRP002 Tropical Spastic Paraparesis 51 0.021
498
PLM129 Pulmonary Disease, Chronic Obstructive 51 0.021
499
P MNN013 Meningitis 51 0.021
500
P CMP010 Complex Regional Pain Syndrome 51 0.021
501
HST011 Histoplasmosis 51 0.021
502
ALV002 Alveolar Echinococcosis 50 0.021
503
VSC011 Vasculitis 50 0.021
504
P MYP004 Myopathy 50 0.021
505
RSC001 Rosacea 50 0.021
506
P STS008 Sotos Syndrome 1 50 0.021
507
PRS047 Prostatitis 50 0.021
508
PSD014 Pseudopseudohypoparathyroidism 50 0.021
509
PLS006 Plasmodium Vivax Malaria 50 0.021
510
P CNJ013 Conjunctivitis 50 0.021
511
P ABD003 Abdominal Aortic Aneurysm 50 0.021
512
BBS001 Babesiosis 50 0.021
513
CHN016 Cohen Syndrome 49 0.021
514
P SNS014 Sinusitis 49 0.021
515
MSC077 Muscle Eye Brain Disease 49 0.021
516
BRN022 Bronchiectasis 49 0.021
517
P MCR010 Microcephaly 49 0.021
518
MCR088 Microscopic Polyangiitis 49 0.021
519
c OPT053 Optic Atrophy 1 49 0.021
520
P SHR029 Short Syndrome 49 0.021
521
BRN012 Bronchiolitis Obliterans 49 0.021
522
P NRV007 Nervous System Disease 49 0.021
523
P SPN052 Spondyloarthropathy 49 0.021
524
ATX019 Ataxia with Vitamin E Deficiency 49 0.021
525
PLM034 Pulmonary Emphysema 49 0.021
526
PRD007 Periodontal Disease 49 0.021
527
c SPN296 Spinocerebellar Ataxia 17 49 0.021
528
P PLY017 Polyarteritis Nodosa 49 0.021
529
KRT002 Keratomalacia 49 0.021
530
CYS005 Cysticercosis 49 0.021
531
TXC005 Toxic Shock Syndrome 49 0.021
532
P SYN001 Syndactyly 49 0.021
533
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 49 0.021
534
c ATX006 Ataxia-Telangiectasia-Like Disorder 48 0.021
535
VGT001 Vogt-Koyanagi-Harada Disease 48 0.021
536
P SZR006 Seizure Disorder 48 0.021
537
OST017 Osteomyelitis 48 0.021
538
CRM001 Crimean-Congo Hemorrhagic Fever 48 0.021
539
c SPN291 Spinocerebellar Ataxia 7 48 0.021
540
PHR003 Pharyngitis 48 0.021
541
P THR005 Thrombotic Thrombocytopenic Purpura 48 0.021
542
BRN002 Bronchiolitis 48 0.021
543
c GLY019 Glycogen Storage Disease Iiia 48 0.021
544
INT146 Intervertebral Disc Disease 48 0.021
545
KRT006 Keratoconjunctivitis 48 0.021
546
c SCN006 Secondary Syphilis 48 0.021
547
WLL006 Wells Syndrome 48 0.021
548
LYM021 Lymphadenitis 48 0.021
549
CLT003 Colitis 47 0.021
550
P MYC008 Myocarditis 47 0.021
551
c VRL007 Viral Encephalitis 47 0.021
552
GNG013 Gingivitis 47 0.021
553
SPT004 Septic Arthritis 47 0.021
554
ISC004 Ischemia 47 0.021
555
c ACT027 Acute Pancreatitis 47 0.021
556
P THR003 Thoracic Aortic Aneurysm 47 0.021
557
c PSD095 Pseudohypoaldosteronism, Type I 47 0.021
558
CYT008 Cytomegalovirus Infection 47 0.021
559
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 47 0.021
560
ALP008 Alopecia 47 0.021
561
DBF001 D-Bifunctional Protein Deficiency 47 0.021
562
LPR001 Lepromatous Leprosy 47 0.021
563
TNS005 Tonsillitis 47 0.021
564
BCT002 Bacterial Vaginosis 47 0.021
565
P CYS018 Cystitis 47 0.021
566
PLV003 Pelvic Inflammatory Disease 47 0.021
567
ALL009 Allergic Conjunctivitis 46 0.021
568
DBW001 Dubowitz Syndrome 46 0.021
569
P SLP006 Sleep Apnea 46 0.021
570
P STR022 Stargardt Disease 46 0.021
571
OBS061 Obstructive Sleep Apnea 46 0.021
572
P SLL003 Salla Disease 46 0.021
573
STS002 Situs Inversus 46 0.021
574
P LRY019 Laryngitis 46 0.021
575
IDP011 Idiopathic Interstitial Pneumonia 46 0.021
576
DNT016 Dentatorubro-Pallidoluysian Atrophy 46 0.021
577
SRS007 Sorsby Fundus Dystrophy 46 0.021
578
c XRD015 Xeroderma Pigmentosum, Group F 46 0.021
579
LYS002 Lysosomal Storage Disease 46 0.021
580
SPN020 Spondylosis 46 0.021
581
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 46 0.021
582
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 46 0.021
583
FLR002 Filariasis 46 0.021
584
c L2H001 L-2-Hydroxyglutaric Aciduria 46 0.021
585
P AGN002 Agnosia 46 0.021
586
OBS006 Obstructive Lung Disease 45 0.021
587
CLF001 Cleft Lip 45 0.021
588
P MNC007 Monocytic Leukemia 45 0.021
589
NRM005 Neuromuscular Disease 45 0.021
590
OCL005 Oculocerebrorenal Syndrome 45 0.021
591
GST045 Gastroenteritis 45 0.021
592
HMT018 Hematopoietic Stem Cell Transplantation 45 0.021
593
OPT037 Optic Nerve Hypoplasia 45 0.021
594
P PNM006 Pneumoconiosis 45 0.021
595
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 45 0.021
596
P SCL015 Scleritis 45 0.021
597
MTC020 Mitochondrial Complex Ii Deficiency 45 0.021
598
PTT006 Pituitary Adenoma 45 0.021
599
c BCT007 Bacterial Meningitis 45 0.021
600
P LKD001 Leukodystrophy 45 0.021
601
TRY001 Trypanosomiasis 45 0.021
602
DNR002 Duane-Radial Ray Syndrome 45 0.021
603
PLM010 Pulmonary Edema 45 0.021
604
ING001 Inguinal Hernia 44 0.021
605
MTC057 Mitochondrial Recessive Ataxia Syndrome 44 0.021
606
P UTR038 Uterine Disease 44 0.021
607
EXT034 Extrinsic Allergic Alveolitis 44 0.021
608
CLN003 Clonorchiasis 44 0.021
609
ART002 Arts Syndrome 44 0.021
610
GRS011 Gerstmann-Straussler Disease 44 0.021
611
CRN036 Craniopharyngioma 44 0.021
612
STT002 Status Asthmaticus 44 0.021
613
SYN007 Synovitis 44 0.021
614
ASP003 Aseptic Meningitis 44 0.021
615
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 44 0.021
616
GLL032 Galloway-Mowat Syndrome 44 0.021
617
P NRV006 Nervous System Cancer 44 0.021
618
c ANT034 Anterior Uveitis 44 0.021
619
P SCL018 Scoliosis 44 0.021
620
MST005 Mastitis 44 0.021
621
PRC013 Pericarditis 44 0.021
622
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 44 0.021
623
P HMR012 Hemorrhagic Fever 44 0.021
624
ECT006 Ectodermal Dysplasia 44 0.021
625
PLY013 Polymyalgia Rheumatica 44 0.021
626
c OPT055 Optic Atrophy Plus Syndrome 43 0.021
627
c CCK005 Cockayne Syndrome, Type a 43 0.021
628
c CNG415 Congenital Disorder of Glycosylation, Type Ia 43 0.021
629
ASP001 Asperger Syndrome 43 0.021
630
c SPN106 Spinocerebellar Ataxia 5 43 0.021
631
SRT004 Serotonin Syndrome 43 0.021
632
BRN106 Burns 43 0.021
633
P END033 Endocarditis 43 0.021
634
INC001 Incontinentia Pigmenti Achromians 43 0.021
635
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 43 0.021
636
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 43 0.021
637
PLR001 Pleural Tuberculosis 43 0.021
638
BRN056 Bronchopulmonary Dysplasia 43 0.021
639
c RTN164 Retinitis Pigmentosa Autosomal Recessive 43 0.021
640
P GNG009 Gangliosidosis 43 0.021
641
MTC054 Mitochondrial Dna Depletion Syndrome 7 43 0.021
642
PNV001 Panuveitis 43 0.021
643
P LSS027 Lissencephaly, X-Linked 43 0.021
644
MCN007 Meconium Aspiration Syndrome 43 0.021
645
P AGG001 Aggressive Periodontitis 43 0.021
646
ELS001 Eales Disease 43 0.021
647
FSC002 Fascioliasis 42 0.021
648
c HRM005 Hermansky-Pudlak Syndrome 1 42 0.021
649
P PYL005 Pyelonephritis 42 0.021
650
P PTS002 Ptosis 42 0.021
651
CRN017 Coronary Thrombosis 42 0.021
652
P RTN016 Retinal Degeneration 42 0.021
653
CRN027 Corneal Neovascularization 42 0.021
654
c HPT007 Hepatitis E 42 0.021
655
BRD003 Bird Fancier's Lung 42 0.021
656
INF034 Infective Endocarditis 42 0.021
657
SLD003 Sialadenitis 42 0.021
658
CHR031 Chromoblastomycosis 42 0.021
659
P BRN009 Burning Mouth Syndrome 42 0.021
660
P SCL009 Sclerosing Cholangitis 42 0.021
661
c VRL012 Viral Meningitis 42 0.021
662
P BRY001 Berylliosis 42 0.021
663
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 42 0.021
664
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42 0.021
665
ADT003 Auditory System Disease 42 0.021
666
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41 0.021
667
ILT001 Ileitis 41 0.021
668
INT051 Intussusception 41 0.021
669
P EXN002 Exanthem 41 0.021
670
INT067 Interstitial Nephritis 41 0.021
671
DXT001 Dextrocardia 41 0.021
672
CLL003 Cellulitis 41 0.021
673
EPS004 Episodic Ataxia/myokymia Syndrome 41 0.021
674
PLR008 Pleurisy 41 0.021
675
PYD002 Pyoderma 41 0.021
676
MCR191 Microscopic Colitis 41 0.021
677
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 41 0.021
678
c INV001 Invasive Aspergillosis 40 0.021
679
APR001 Apraxia 40 0.021
680
CYT005 Cytomegalovirus Retinitis 40 0.021
681
PLN005 Palindromic Rheumatism 40 0.021
682
FSC004 Fasciitis 40 0.021
683
OBS001 Obstructive Jaundice 40 0.021
684
P PSD003 Pseudohypoaldosteronism 40 0.021
685
P VSC013 Visceral Heterotaxy 40 0.021
686
DVR002 Diverticulitis 40 0.021
687
P PRP023 Peripheral Neuropathy 40 0.021
688
CRK001 Cork-Handlers' Disease 40 0.021
689
P CRN028 Corneal Ulcer 40 0.021
690
CHL073 Cholestasis-Lymphedema Syndrome 40 0.021
691
P END046 Endometritis 40 0.021
692
CHR005 Chorioamnionitis 40 0.021
693
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 40 0.021
694
NPH004 Nephropathia Epidemica 40 0.021
695
BCT015 Bacteremia 40 0.021
696
TBR011 Tuberculous Meningitis 40 0.021
697
c CRN139 Cornelia De Lange Syndrome 1 39 0.021
698
KRT010 Kartagener Syndrome 39 0.021
699
SPN051 Spondylitis 39 0.021
700
c SCN036 Secondary Progressive Multiple Sclerosis 39 0.021
701
TBR008 Tuberculous Peritonitis 39 0.021
702
P RPD001 Rapidly Progressive Glomerulonephritis 39 0.021
703
c CCK006 Cockayne Syndrome, Type B 39 0.021
704
MDD010 Middle Ear Disease 39 0.021
705
BCT004 Bacteriuria 39 0.021
706
ADN022 Adenylosuccinase Deficiency 39 0.021
707
PRT082 Preterm Premature Rupture of the Membranes 39 0.021
708
P CHL066 Cholangitis 39 0.021
709
NCR007 Necrotizing Fasciitis 39 0.021
710
GGR001 Geographic Tongue 38 0.021
711
P MSC033 Muscle Disorders 38 0.021
712
ACT100 Acute Febrile Neutrophilic Dermatosis 38 0.021
713
LGH004 Light Chain Deposition Disease 38 0.021
714
PTY001 Pityriasis Rosea 38 0.021
715
1P3001 1p36 Deletion Syndrome 38 0.021
716
BLR006 Biliary Tract Disease 38 0.021
717
WRN002 Wernicke-Korsakoff Syndrome 38 0.021
718
P SPL050 Split Hand-Split Foot Malformation 38 0.021
719
HYP458 Hyper Ige Syndrome 38 0.021
720
CRS001 Crescentic Glomerulonephritis 38 0.021
721
PRN049 Paraneoplastic Pemphigus 38 0.021
722
c ACT042 Acute Pyelonephritis 38 0.021
723
RTN175 Retinitis Pigmentosa 7 and Digenic 38 0.021
724
c EYC002 Eye Carcinoma 38 0.021
725
c SPN314 Spinocerebellar Ataxia 10 38 0.021
726
PTT004 Pituitary Apoplexy 38 0.021
727
PLP001 Pulpitis 38 0.021
728
NCR001 Necrotizing Ulcerative Gingivitis 38 0.021
729
CLR096 Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 37 0.021
730
HPT008 Hepatic Tuberculosis 37 0.021
731
SCT002 Scotoma 37 0.021
732
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 37 0.021
733
TXC011 Toxocariasis 37 0.021
734
ASP007 Aspiration Pneumonia 37 0.021
735
CHR008 Choroiditis 37 0.021
736
DNG001 Dengue Shock Syndrome 37 0.021
737
MLL002 Miller Fisher Syndrome 37 0.021
738
ABL002 Ablepharon-Macrostomia Syndrome 37 0.021
739
CRB027 Cerebellar Disease 37 0.021
740
SYS003 Systolic Heart Failure 37 0.021
741
PCH002 Pachygyria 37 0.021
742
c HRM006 Hermansky-Pudlak Syndrome 3 36 0.021
743
PRC003 Proctitis 36 0.021
744
STP004 Staphylococcal Toxic Shock Syndrome 36 0.021
745
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36 0.021
746
HMP009 Haemophilus Influenzae 36 0.021
747
PLS002 Peliosis Hepatis 36 0.021
748
P INT063 Intellectual Disability 36 0.021
749
FRN002 Frontal Lobe Epilepsy 36 0.021
750
RGH009 Right Atrial Isomerism 36 0.021
751
BGS001 Bagassosis 36 0.021
752
P CMM008 Communicating Hydrocephalus 36 0.021
753
PST010 Pasteurellosis 36 0.021
754
P CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.021
755
PRS115 Prosthetic Joint Infection 35 0.021
756
P SPL037 Split Hand Foot Malformation 35 0.021
757
MYC013 Mycobacterium Abscessus 35 0.021
758
CRH005 Crohn's Colitis 35 0.021
759
OBS004 Obstructive Hydrocephalus 35 0.021
760
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 35 0.021
761
ERY004 Erysipelas 35 0.021
762
P CHR342 Chiari Malformation 35 0.021
763
HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 35 0.021
764
PHL003 Phlebotomus Fever 35 0.021
765
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 35 0.021
766
HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 35 0.021
767
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 35 0.021
768
PRD003 Periodontosis 35 0.021
769
XLN003 X-Linked Sideroblastic Anemia with Ataxia 34 0.021
770
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 34 0.021
771
P NRX001 Neuroaxonal Dystrophy 34 0.021
772
CLB003 Coloboma of Optic Nerve 34 0.021
773
CRY001 Cryptogenic Organizing Pneumonia 34 0.021
774
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 34 0.021
775
OCC001 Occupational Dermatitis 34 0.021
776
NSY001 N Syndrome 34 0.021
777
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 34 0.021
778
c SPS079 Spastic Paraplegia 2 34 0.021
779
LSB001 Louse-Borne Relapsing Fever 34 0.021
780
VLV042 Vulvar Vestibulitis Syndrome 34 0.021
781
LNG017 Lung Giant Cell Carcinoma 34 0.021
782
ELP001 Elephantiasis 34 0.021
783
HMN032 Human Herpesvirus 8 34 0.021
784
FRG010 Fragile X Tremor/ataxia Syndrome 34 0.021
785
c ACT081 Acute Salpingitis 33 0.021
786
BLD036 Bile Duct Disease 33 0.021
787
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 33 0.021
788
c HRM017 Hermansky-Pudlak Syndrome 2 33 0.021
789
CHR174 Christianson Syndrome 33 0.021
790
MLY006 Molybdenum Cofactor Deficiency a 33 0.021
791
VRT001 Vertebral Artery Occlusion 33 0.021
792
c OST126 Osteopetrosis, Autosomal Recessive 1 33 0.021
793
P CPL003 Capillary Leak Syndrome 33 0.021
794
NTR001 Neutral Lipid Storage Disease 33 0.021
795
c PSD067 Pseudohypoparathyroidism Ia 33 0.021
796
BNN003 Bone Inflammation Disease 33 0.021
797
MNN021 Meningococcemia 33 0.021
798
ATP013 Atopic Keratoconjunctivitis 33 0.021
799
ATR073 Atrophic Glossitis 33 0.021
800
VTR005 Vitreous Disease 33 0.021
801
GRN009 Granulomatous Hepatitis 33 0.021
802
STR077 Streptococcal Toxic-Shock Syndrome 33 0.021
803
CNN013 Cenani-Lenz Syndrome 33 0.021
804
ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 33 0.021
805
c MGR032 Migraine, Familial Hemiplegic, 1 33 0.021
806
c SPN312 Spinocerebellar Ataxia 14 33 0.021
807
c ACQ005 Acquired Thrombocytopenia 33 0.021
808
c ORF034 Orofaciodigital Syndrome Vi 33 0.021
809
PLC008 Placenta Disease 33 0.021
810
JPN001 Japanese Spotted Fever 33 0.021
811
ARS002 Arsacs 33 0.021
812
RVS001 Revesz Syndrome 33 0.021
813
c PRX059 Peroxisome Biogenesis Disorder 1a 32 0.021
814
ATX003 Ataxia with Isolated Vitamin E Deficiency 32 0.021
815
CRT012 Cortical Blindness 32 0.021
816
P MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 32 0.021
817
MYX013 Myxofibrosarcoma 32 0.021
818
c CTS008 Cutis Laxa, Autosomal Dominant 32 0.021
819
c CTR102 Cataract 2, Multiple Types 32 0.021
820
CHR463 Chronic Actinic Dermatitis 32 0.021
821
BLV001 Bolivian Hemorrhagic Fever 32 0.021
822
LMB010 Lambert Syndrome 32 0.021
823
VGN020 Vaginal Disease 32 0.021
824
c ACR088 Aicardi-Goutieres Syndrome 3 32 0.021
825
CRB086 Cerebral Aneurysms 32 0.021
826
JBR033 Joubert Syndrome with Hepatic Defect 32 0.021
827
SRC011 Sarcocystosis 32 0.021
828
c CHR038 Chronic Maxillary Sinusitis 32 0.021
829
SNG007 Sengers Syndrome 31 0.021
830
BRY005 Beryllium Disease 31 0.021
831
LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 31 0.021
832
THY001 Thyroid Crisis 31 0.021
833
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 31 0.021
834
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 31 0.021
835
CHR100 Chronic Ulcer of Skin 31 0.021
836
EXT035 Extrinsic Cardiomyopathy 31 0.021
837
GNG011 Gingival Disease 31 0.021
838
c JBR004 Joubert Syndrome 2 31 0.021
839
ETH004 Euthyroid Sick Syndrome 31 0.021
840
BSL004 Basilar Artery Occlusion 31 0.021
841
IDP074 Idiopathic Bronchiectasis 31 0.021
842
c FRN033 Frontonasal Dysplasia 2 31 0.021
843
PRP019 Peripheral Nervous System Disease 31 0.021
844
c SPN290 Spinocerebellar Ataxia 15 31 0.021
845
PRP028 Peripheral Vertigo 31 0.021
846
UND005 Undifferentiated Pleomorphic Sarcoma 31 0.021
847
VSL002 Visual Epilepsy 31 0.021
848
CRS012 Carasil Syndrome 31 0.021
849
SPS057 Spasticity 30 0.021
850
RTN035 Retinal Cone Dystrophy 3b 30 0.021
851
PRN019 Perinatal Necrotizing Enterocolitis 30 0.021
852
NNT049 Nontuberculous Mycobacterial Lung Disease 30 0.021
853
c CHL119 Cholangitis, Primary Sclerosing 30 0.021
854
MCR110 Microphthalmia with Coloboma 6, Digenic 30 0.021
855
PLY117 Polymicrogyria, Bilateral Frontoparietal 30 0.021
856
P KNB001 Knobloch Syndrome 30 0.021
857
P PST059 Pustular Psoriasis 30 0.021
858
c SPN096 Spinocerebellar Ataxia 21 30 0.021
859
TXC007 Toxic Pneumonitis 30 0.021
860
RDG001 Red-Green Color Blindness 30 0.021
861
OPT054 Opitz-Kaveggia Syndrome 30 0.021
862
ACR059 Acro-Renal-Ocular Syndrome 30 0.021
863
c WRD020 Waardenburg Syndrome, Type 4a 30 0.021
864
c ACT036 Acute Cholangitis 29 0.021
865
INF129 Infantile Cerebellar-Retinal Degeneration 29 0.021
866
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 29 0.021
867
ANM008 Anemia, Sideroblastic, with Ataxia 29 0.021
868
P VTR010 Vitreoretinochoroidopathy 29 0.021
869
c CNG205 Congenital Disorder of Glycosylation, Type Ij 29 0.021
870
PST053 Postherpetic Neuralgia 29 0.021
871
PYR004 Pyuria 29 0.021
872
FNS001 Funisitis 29 0.021
873
c INT059 Internal Hemorrhoid 29 0.021
874
c SPN308 Spinocerebellar Ataxia 28 29 0.021
875
RCR001 Recurrent Corneal Erosion 29 0.021
876
CNN011 Cenani-Lenz Syndactyly Syndrome 29 0.021
877
c ALT007 Alternating Hemiplegia of Childhood 2 29 0.021
878
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 29 0.021
879
c CHR099 Chronic Salpingitis 29 0.021
880
PRN032 Paraneoplastic Cerebellar Degeneration 29 0.021
881
c SPN100 Spinocerebellar Ataxia 27 29 0.021
882
MLL018 Miller-Dieker Lissencephaly Syndrome 29 0.021
883
MYC014 Mycobacterium Chelonae 29 0.021
884
ENC023 Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 29 0.021
885
MST019 Mastoiditis 29 0.021
886
NRP003 Neuropathy Ataxia Retinitis Pigmentosa Syndrome 29 0.021
887
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 29 0.021
888
CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 29 0.021
889
PST055 Postural Hypotension 29 0.021
890
MDD015 Mid-Dermal Elastolysis 29 0.021
891
ODN005 Odontogenic Myxoma 29 0.021
892
RMS007 Ramsay Hunt Syndrome 29 0.021
893
c PRX043 Peroxisome Biogenesis Disorder 6b 28 0.021
894
IMM027 Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome 28 0.021
895
c HRM010 Hermansky-Pudlak Syndrome 7 28 0.021
896
c JBR012 Joubert Syndrome 5 28 0.021
897
PST011 Pustulosis of Palm and Sole 28 0.021
898
ALT002 Aleutian Mink Disease 28 0.021
899
c GNT027 Giant Axonal Neuropathy-1 28 0.021
900
OPT008 Optic Nerve Neoplasm 28 0.021
901
c EXD004 Exudative Vitreoretinopathy 4 28 0.021
902
PHS021 Phosphoglycerate Dehydrogenase Deficiency 28 0.021
903
CMB012 Combined Oxidative Phosphorylation Deficiency 1 28 0.021
904
BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 28 0.021
905
DVL001 Developmental Coordination Disorder 28 0.021
906
CPS001 Capos Syndrome 28 0.021
907
BLD019 Bile Duct Cystadenocarcinoma 28 0.021
908
c SPN095 Spinocerebellar Ataxia 19 28 0.021
909
c ACQ027 Acquired Cutis Laxa 28 0.021
910
P NRD009 Neurodegeneration with Brain Iron Accumulation 2b 28 0.021
911
c JVN011 Juvenile Dermatitis Herpetiformis 28 0.021
912
LNG095 Lung Abscess 28 0.021
913
c SCL045 Sclerosteosis 1 28 0.021
914
PLM007 Pulmonary Aspergilloma 28 0.021
915
c PNT018 Pontocerebellar Hypoplasia, Type 1b 28 0.021
916
c OST136 Osteopetrosis, Autosomal Recessive 7 28 0.021
917
NRM006 Neuromuscular Junction Disease 28 0.021
918
c PRX047 Peroxisome Biogenesis Disorder 5b 28 0.021
919
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 28 0.021
920
c NGH020 Night Blindness, Congenital Stationary , 2a, X-Linked 28 0.021
921
c LBR005 Leber Congenital Amaurosis 10 28 0.021
922
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 28 0.021
923
c CNG188 Congenital Disorder of Glycosylation, Type if 28 0.021
924
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 28 0.021
925
c CTS019 Cutis Laxa, Ad 27 0.021
926
P JBR017 Joubert Syndrome-3 27 0.021
927
P BRN035 Brain Stem Glioma 27 0.021
928
SPP003 Suppurative Periapical Periodontitis 27 0.021
929
PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 27 0.021
930
CLR057 Ciliary Dyskinesia, Primary, 3, with or Without Situs Inversus 27 0.021
931
c SPN299 Spinocerebellar Ataxia 20 27 0.021
932
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 27 0.021
933
c LBR008 Leber Congenital Amaurosis 13 27 0.021
934
INF001 Infarct of Liver 27 0.021
935
c LBR029 Leber Congenital Amaurosis 17 27 0.021
936
24D001 2,4-Dienoyl-Coa Reductase Deficiency 27 0.021
937
P HYP534 Hypomagnesemia 3, Renal 27 0.021
938
PRN039 Paraneoplastic Syndromes 27 0.021
939
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 27 0.021
940
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.021
941
GLC001 Glaucomatocyclitic Crisis 27 0.021
942
c CHR160 Chiari Malformation Type 2 27 0.021
943
BLC005 Blue Color Blindness 27 0.021
944
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 27 0.021
945
CNR001 Coenurosis 27 0.021
946
PRT032 Partial Central Choroid Dystrophy 27 0.021
947
PRP026 Peripheral Retinal Degeneration 26 0.021
948
MRN009 Morning Glory Syndrome 26 0.021
949
MTC063 Mitochondrial Dna Depletion Syndrome 3 26 0.021
950
c HRM012 Hermansky-Pudlak Syndrome 9 26 0.021
951
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 26 0.021
952
HTR001 Heterophyiasis 26 0.021
953
c SPN094 Spinocerebellar Ataxia 18 26 0.021
954
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 26 0.021
955
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 26 0.021
956
ALC003 Alcoholic Psychosis 26 0.021
957
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 26 0.021
958
RHM007 Rheumatic Congestive Heart Failure 26 0.021
959
c NPH053 Nephronophthisis 11 26 0.021
960
c CNG389 Congenital Disorder of Glycosylation, Type Iim 26 0.021
961
SBC017 Sebaceous Gland Disease 26 0.021
962
PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 26 0.021
963
CRN033 Cranial Nerve Malignant Neoplasm 26 0.021
964
c ACR081 Aicardi-Goutieres Syndrome 6 26 0.021
965
c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 26 0.021
966
c PSD058 Pseudohypoparathyroidism Ic 26 0.021
967
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 26 0.021
968
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 25 0.021
969
SPS002 Spastic Entropion 25 0.021
970
CNR014 Cone-Rod Dystrophy 16 25 0.021
971
c SPN103 Spinocerebellar Ataxia 31 25 0.021
972
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25 0.021
973
CRD016 Cardiac Rupture 25 0.021
974
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 25 0.021
975
CHR073 Choreatic Disease 25 0.021
976
c JBR024 Joubert Syndrome 14 25 0.021
977
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 25 0.021
978
MTC058 Mitochondrial Dna Depletion Syndrome 6 25 0.021
979
c MYS052 Myasthenic Syndrome, Congenital, 10 25 0.021
980
GRN036 Granulomatous Myositis 25 0.021
981
P EXD009 Exudative Vitreoretinopathy 2, X-Linked 25 0.021
982
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 25 0.021
983
STR046 Stargardt Macular Degeneration 25 0.021
984
SPC003 Specific Developmental Disorder 25 0.021
985
TXC010 Toxic Myocarditis 25 0.021
986
c USH026 Usher Syndrome Type 3b 25 0.021
987
c JBR018 Joubert Syndrome 4 25 0.021
988
CRL001 Cerulean Cataract 25 0.021
989
c LKD019 Leukodystrophy, Hypomyelinating, 6 25 0.021
990
CNR016 Cone-Rod Dystrophy 7 25 0.021
991
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 25 0.021
992
WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 25 0.021
993
c SPN099 Spinocerebellar Ataxia 26 25 0.021
994
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 25 0.021
995
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.021
996
DCR001 Dicrocoeliasis 24 0.021
997
c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 24 0.021
998
c CNG200 Congenital Disorder of Glycosylation, Type Iq 24 0.021
999
CHR080 Choroidal Sclerosis 24 0.021
1000
c ORF012 Orofaciodigital Syndrome 8 24 0.021
1001
c OPT057 Optic Atrophy 7 24 0.021
1002
c JBR011 Joubert Syndrome 7 24 0.021
1003
15Q002 15q24 Microdeletion Syndrome 24 0.021
1004
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24 0.021
1005
c JBR014 Joubert Syndrome 9 24 0.021
1006
SLC020 Sialic Acid Storage Disorder, Infantile 24 0.021
1007
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 24 0.021
1008
c CRD167 Cardiofaciocutaneous Syndrome 4 24 0.021
1009
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 24 0.021
1010
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 24 0.021
1011
c PNT030 Pontocerebellar Hypoplasia, Type 8 24 0.021
1012
c CRD164 Cardiofaciocutaneous Syndrome 3 24 0.021
1013
c GCH013 Gaucher Disease, Type Iiic 24 0.021
1014
c CRB100 Cerebrooculofacioskeletal Syndrome 4 24 0.021
1015
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24 0.021
1016
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 24 0.021
1017
CND012 Cone Dystrophy 4 24 0.021
1018
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 24 0.021
1019
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 24 0.021
1020
c SNR004 Senior-Loken Syndrome 4 24 0.021
1021
c EPL141 Epilepsy, Progressive Myoclonic 5 24 0.021
1022
SPR101 Superior Semicircular Canal Dehiscence Syndrome 24 0.021
1023
PRN033 Paraneoplastic Neurologic Disorders 23 0.021
1024
BRN036 Brain Stem Infarction 23 0.021
1025
c NGH018 Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 23 0.021
1026
c PNT033 Pontocerebellar Hypoplasia, Type 10 23 0.021
1027
ALR002 Al-Raqad Syndrome 23 0.021
1028
c PRR020 Perrault Syndrome 1 23 0.021
1029
ULC006 Ulceroglandular Tularemia 23 0.021
1030
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 23 0.021
1031
MSC004 Muscle Tissue Disease 23 0.021
1032
RTN084 Retinal Cone Dystrophy 3 23 0.021
1033
DNT014 Dental Pulp Disease 23 0.021
1034
c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 23 0.021