Search results for "nystagmus"

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

1388 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
c NYS017 Nystagmus 1, Congenital, X-Linked 22 5.536
2
P XLN065 X-Linked Infantile Nystagmus 21 4.558
3
P CNG024 Congenital Nystagmus 40 4.448
4
SPN033 Spontaneous Ocular Nystagmus 38 3.940
5
c NYS013 Nystagmus 6, Congenital, X-Linked 20 3.927
6
VST003 Vestibular Nystagmus 33 3.584
7
c FRM005 Frmd7-Related Infantile Nystagmus 9 3.561
8
c EPS035 Episodic Ataxia, Type 2 55 3.245
9
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 14 3.226
10
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 15 3.221
11
TRM021 Tremor, Nystagmus, and Duodenal Ulcer 12 3.198
12
NYS007 Nystagmus, Hereditary Vertical 5 3.178
13
PTH003 Pathologic Nystagmus 33 2.872
14
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 13 2.803
15
DSS005 Dissociated Nystagmus 11 2.792
16
SPL021 Split Hand Split Foot Nystagmus 8 2.786
17
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 18 2.780
18
SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 13 2.780
19
BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 12 2.766
20
NYS008 Nystagmus, Myoclonic 4 2.758
21
P BMN001 Biemond Syndrome 11 2.741
22
BNG018 Benign Paroxysmal Positional Nystagmus 31 2.320
23
c NYS012 Nystagmus 5, Congenital, X-Linked 12 2.303
24
CHR165 Chorea, Remitting with Nystagmus and Cataracts 5 2.277
25
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 7 2.252
26
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 12 1.660
27
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 5 1.633
28
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 31 1.624
29
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 3 1.615
30
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 17 1.605
31
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4 1.605
32
FGS004 Fg Syndrome 4 27 1.593
33
NHS001 Neuhauser Daly Magnelli Syndrome 3 1.593
34
ODN003 O Donnell Pappas Syndrome 11 1.577
35
MMN001 Maumenee Syndrome 4 1.577
36
SLN003 Silengo Lerone Pelizza Syndrome 3 1.577
37
SNG001 Singh Chhaparwal Dhanda Syndrome 3 1.577
38
P ATX004 Ataxia 53 0.106
39
INT042 Internuclear Ophthalmoplegia 36 0.099
40
ALB002 Albinism 43 0.097
41
P STR020 Strabismus 53 0.095
42
NRN002 Neuronitis 42 0.093
43
SPS087 Spasmus Nutans 19 0.084
44
EYD002 Eye Disease 63 0.073
45
ETH011 Ethylmalonic Encephalopathy 59 0.073
46
AST006 Astigmatism 44 0.067
47
RTN023 Retinitis 49 0.064
48
OCL011 Ocular Motility Disease 38 0.064
49
ANR002 Aniridia 60 0.061
50
OPT006 Optic Nerve Disease 51 0.058
51
P CRN035 Cranial Nerve Palsy 43 0.058
52
EST005 Esotropia 41 0.058
53
CRN031 Cranial Nerve Disease 40 0.058
54
VST001 Vestibular Neuronitis 36 0.058
55
FST001 Foster-Kennedy Syndrome 34 0.058
56
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 32 0.058
57
MTR031 Motor Neuro-Ophthalmic Disorders 23 0.058
58
P CRB042 Cerebellar Ataxia 64 0.055
59
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.055
60
MTN003 Motion Sickness 48 0.055
61
OCL001 Ocular Albinism 43 0.055
62
AND005 Androgen Insensitivity Syndrome, Mild 16 0.055
63
P CTR002 Cataract 57 0.051
64
HPT074 Hepatic Adenoma, Somatic 51 0.051
65
c ALB009 Albinism, Oculocutaneous, Type Ia 41 0.051
66
BLC001 Blue Cone Monochromacy 40 0.051
67
P HYP265 Hypotonia 39 0.051
68
HNM002 Hinman Syndrome 25 0.051
69
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.047
70
MVM001 Movement Disease 54 0.047
71
c ALB021 Albinism, Oculocutaneous, Type Ii 46 0.047
72
PTR006 Peters Anomaly 64 0.043
73
P ACH003 Achromatopsia 53 0.043
74
P CNG010 Congenital Stationary Night Blindness 50 0.043
75
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.043
76
ALN001 Aland Island Eye Disease 45 0.043
77
RFR003 Refractive Error 42 0.043
78
c LBR004 Leber Congenital Amaurosis 1 34 0.043
79
FVL006 Foveal Hypoplasia 1 22 0.043
80
P ATX030 Ataxia-Telangiectasia 76 0.039
81
P AST007 Astrocytoma 65 0.039
82
DWN001 Down Syndrome 65 0.039
83
P HYP086 Hypothyroidism 65 0.039
84
P RFS001 Refsum Disease 62 0.039
85
P BRD002 Bardet-Biedl Syndrome 62 0.039
86
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.039
87
P LBR001 Leber Congenital Amaurosis 60 0.039
88
P TRM003 Tremor 54 0.039
89
CCH002 Coach Syndrome 54 0.039
90
NRT004 Neuritis 52 0.039
91
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.039
92
P OCL002 Oculocutaneous Albinism 51 0.039
93
CHN055 Chanarin-Dorfman Syndrome 49 0.039
94
P HMP006 Hemiplegic Migraine 44 0.039
95
P BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 42 0.039
96
EXT022 Exotropia 39 0.039
97
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.039
98
CRB009 Cerebritis 38 0.039
99
SPL040 Split Hand 37 0.039
100
NNC002 Nance-Horan Syndrome 36 0.039
101
LTR003 Lateral Medullary Syndrome 35 0.039
102
GLB003 Globe Disease 35 0.039
103
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 35 0.039
104
SPL039 Split Foot 33 0.039
105
c ALB019 Albinism, Oculocutaneous, Type Iv 32 0.039
106
c ALB010 Albinism, Oculocutaneous, Type Ib 31 0.039
107
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 30 0.039
108
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.039
109
c ALB020 Albinism, Oculocutaneous, Type Iii 27 0.039
110
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 26 0.039
111
c LBR017 Leber Congenital Amaurosis 7 26 0.039
112
c LBR016 Leber Congenital Amaurosis 6 26 0.039
113
c LBR018 Leber Congenital Amaurosis 8 25 0.039
114
c LBR006 Leber Congenital Amaurosis 11 25 0.039
115
P SPS133 Spastic Paraplegia 2, X-Linked 23 0.039
116
c LKD016 Leukodystrophy, Hypomyelinating, 9 21 0.039
117
CHR167 Chorioretinal Atrophy, Progressive Bifocal 17 0.039
118
P RTN008 Retinitis Pigmentosa 79 0.034
119
P NRV007 Nervous System Disease 71 0.034
120
P LGH007 Leigh Syndrome 70 0.034
121
CNR002 Cone-Rod Dystrophy 68 0.034
122
SMT004 Smith-Lemli-Opitz Syndrome 67 0.034
123
CHD001 Chediak-Higashi Syndrome 64 0.034
124
P CRD013 Cardiofaciocutaneous Syndrome 63 0.034
125
NRR002 Norrie Disease 61 0.034
126
P ENC004 Encephalitis 61 0.034
127
LWS003 Lowe Syndrome 61 0.034
128
P WLF004 Wolfram Syndrome 61 0.034
129
P TMP003 Temporal Arteritis 60 0.034
130
P CRN139 Cornelia De Lange Syndrome 1 60 0.034
131
c JBR020 Joubert Syndrome 1 59 0.034
132
SNS001 Sensorineural Hearing Loss 57 0.034
133
P EPS003 Episodic Ataxia 56 0.034
134
DMY004 Demyelinating Disease 55 0.034
135
c FML023 Familial Hemiplegic Migraine 55 0.034
136
P SLD010 Sialidosis, Type I 54 0.034
137
P HLL001 Hallermann-Streiff Syndrome 53 0.034
138
ALS001 Alstrom Syndrome 52 0.034
139
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.034
140
WGR001 Wagr Syndrome 52 0.034
141
P ALT001 Alternating Hemiplegia of Childhood 52 0.034
142
c SPN309 Spinocerebellar Ataxia 6 51 0.034
143
MNR002 Meniere's Disease 50 0.034
144
P CFF001 Coffin-Siris Syndrome 50 0.034
145
P NGH001 Night Blindness 49 0.034
146
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 49 0.034
147
CRB045 Cerebellar Hypoplasia 48 0.034
148
P PRM108 Primary Progressive Multiple Sclerosis 47 0.034
149
c LBR014 Leber Congenital Amaurosis 4 47 0.034
150
VST004 Vestibular Disease 47 0.034
151
P CRN108 Cranioectodermal Dysplasia 1 47 0.034
152
c HRD026 Hereditary Ataxia 47 0.034
153
c CNG206 Congenital Disorder of Glycosylation, Type Ie 46 0.034
154
c CNG412 Congenital Disorder of Glycosylation, Type Ii 45 0.034
155
ACR012 Aicardi Syndrome 45 0.034
156
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 45 0.034
157
AYM001 Ayme-Gripp Syndrome 45 0.034
158
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.034
159
BHR001 Behr Syndrome 44 0.034
160
P CRV039 Cervicitis 44 0.034
161
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 44 0.034
162
VCS001 Vici Syndrome 44 0.034
163
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 44 0.034
164
JLL001 Jalili Syndrome 43 0.034
165
PRD011 Proud Syndrome 42 0.034
166
CHR222 Chromosome 1p36 Deletion Syndrome 41 0.034
167
P LBY004 Labyrinthitis 40 0.034
168
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 39 0.034
169
LRN001 Laurence-Moon Syndrome 38 0.034
170
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 37 0.034
171
c ACH034 Achromatopsia-2 37 0.034
172
P MRN003 Marinesco-Sjogren Syndrome 35 0.034
173
CRB029 Cerebellopontine Angle Tumor 35 0.034
174
c MCR263 Microphthalmia, Syndromic 1 34 0.034
175
VSL005 Visual Pathway Disease 34 0.034
176
P CRB059 Cerebellar Degeneration 32 0.034
177
c SCH069 Schindler Disease, Type I 32 0.034
178
c LBR012 Leber Congenital Amaurosis 2 31 0.034
179
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.034
180
GPS001 Gapo Syndrome 31 0.034
181
c LBR015 Leber Congenital Amaurosis 5 30 0.034
182
WDS002 Woods Syndrome 30 0.034
183
c MCR251 Microphthalmia, Syndromic 6 28 0.034
184
c SPN104 Spinocerebellar Ataxia 34 28 0.034
185
PCW002 Pcwh Syndrome 28 0.034
186
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 28 0.034
187
OCL034 Oculocerebrocutaneous Syndrome 28 0.034
188
c KNB004 Knobloch Syndrome, Type 1 27 0.034
189
SPN331 Spondyloocular Syndrome 27 0.034
190
c ALB017 Albinism, Oculocutaneous, Type Vi 27 0.034
191
P XLN012 X-Linked Congenital Stationary Night Blindness 26 0.034
192
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 26 0.034
193
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 25 0.034
194
OCL012 Ocular Albinism with Sensorineural Deafness 25 0.034
195
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 24 0.034
196
c LKD010 Leukodystrophy, Hypomyelinating, 2 24 0.034
197
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 24 0.034
198
OCL033 Oculocerebral Syndrome with Hypopigmentation 24 0.034
199
c LKD008 Leukodystrophy, Hypomyelinating, 4 23 0.034
200
RCH002 Richards-Rundle Syndrome 23 0.034
201
ATX018 Ataxia, Cerebellar, Cayman Type 23 0.034
202
c SPN284 Spinocerebellar Ataxia 38 23 0.034
203
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 22 0.034
204
c ACH025 Achromatopsia-4 22 0.034
205
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 21 0.034
206
c MLT093 Multiple Sclerosis 2 20 0.034
207
MYL017 Myelocerebellar Disorder 19 0.034
208
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 18 0.034
209
MCP039 Mucoepithelial Dysplasia, Hereditary 17 0.034
210
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 17 0.034
211
CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 16 0.034
212
APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 15 0.034
213
CRM007 Crome Syndrome 15 0.034
214
c SPS191 Spastic Ataxia 7, Autosomal Dominant 15 0.034
215
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 0.034
216
BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 13 0.034
217
c SYS001 Systemic Lupus Erythematosus 87 0.027
218
c FNC027 Fanconi Anemia, Complementation Group a 73 0.027
219
MLT021 Multiple System Atrophy 71 0.027
220
P MTC003 Metachromatic Leukodystrophy 71 0.027
221
VNH007 Von Hippel-Lindau Syndrome 69 0.027
222
P FRG001 Fragile X Syndrome 68 0.027
223
P NNN008 Noonan Syndrome 1 67 0.027
224
c PNC108 Pancreatitis, Hereditary 67 0.027
225
P HYD006 Hydrocephalus 67 0.027
226
OTT002 Otitis Media 66 0.027
227
P MYS003 Myasthenia Gravis 65 0.027
228
P ALX003 Alexander Disease 64 0.027
229
P HMP002 Hemophagocytic Lymphohistiocytosis 63 0.027
230
P MCL013 Mucolipidosis Iv 63 0.027
231
DNG002 Dengue Hemorrhagic Fever 62 0.027
232
P MCH002 Machado-Joseph Disease 62 0.027
233
P FRD001 Friedreich Ataxia 62 0.027
234
CRY002 Cryptorchidism 62 0.027
235
c ATM010 Autoimmune Hemolytic Anemia 60 0.027
236
P NRP001 Neuropathy 60 0.027
237
P KLL001 Kallmann Syndrome 60 0.027
238
RBR001 Roberts Syndrome 59 0.027
239
P MYP006 Myopia 59 0.027
240
P ENC018 Encephalopathy 59 0.027
241
PRP030 Purpura 59 0.027
242
P OCL013 Oculodentodigital Dysplasia 59 0.027
243
CHL071 Child Syndrome 58 0.027
244
P MCR010 Microcephaly 58 0.027
245
P GLM045 Glioma 58 0.027
246
RTN018 Retinal Disease 56 0.027
247
P GRS014 Griscelli Syndrome, Type 2 55 0.027
248
c SPN294 Spinocerebellar Ataxia 1 55 0.027
249
PTT006 Pituitary Adenoma 55 0.027
250
P HMR012 Hemorrhagic Fever 55 0.027
251
SCR008 Scrub Typhus 54 0.027
252
HDC001 Headache 54 0.027
253
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.027
254
c HPT007 Hepatitis E 54 0.027
255
P RTN016 Retinal Degeneration 54 0.027
256
KDS001 Kid Syndrome 53 0.027
257
CRN036 Craniopharyngioma 52 0.027
258
P USH001 Usher Syndrome 52 0.027
259
CYS005 Cysticercosis 52 0.027
260
FRB001 Farber Lipogranulomatosis 51 0.027
261
ERD001 Erdheim-Chester Disease 51 0.027
262
P MLT007 Multiple Epiphyseal Dysplasia 51 0.027
263
ACR008 Acrocallosal Syndrome 51 0.027
264
BLL001 Baller-Gerold Syndrome 51 0.027
265
c PRX045 Peroxisome Biogenesis Disorder 1b 51 0.027
266
MLK003 Melkersson-Rosenthal Syndrome 50 0.027
267
c SCN036 Secondary Progressive Multiple Sclerosis 50 0.027
268
MRS002 Marshall Syndrome 50 0.027
269
CYS008 Cystic Echinococcosis 50 0.027
270
c SPN304 Spinocerebellar Ataxia 8 50 0.027
271
P KBK002 Kabuki Syndrome 1 49 0.027
272
c GNG001 Gangliosidosis Gm1 49 0.027
273
HYP299 Hyperostosis, Endosteal 49 0.027
274
P CLR019 Color Blindness 47 0.027
275
ALL001 Allan-Herndon-Dudley Syndrome 47 0.027
276
DJR004 Dejerine-Sottas Disease 47 0.027
277
MLT113 Multicentric Castleman Disease 47 0.027
278
DBW001 Dubowitz Syndrome 46 0.027
279
c CNG021 Congenital Toxoplasmosis 46 0.027
280
P MWT001 Mowat-Wilson Syndrome 46 0.027
281
NNT017 Neonatal Adrenoleukodystrophy 46 0.027
282
HPR003 Heparin-Induced Thrombocytopenia 46 0.027
283
c SVR056 Severe Hemophilia a 46 0.027
284
SDC002 Sed Congenita 45 0.027
285
c SPN311 Spinocerebellar Ataxia 13 45 0.027
286
WLF002 Wolf-Hirschhorn Syndrome 45 0.027
287
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.027
288
HMM003 Hemimegalencephaly 45 0.027
289
CHR105 Choreoacanthocytosis 45 0.027
290
DYS018 Dysostosis 44 0.027
291
DND001 Dandy-Walker Syndrome 44 0.027
292
WRN003 Wernicke Encephalopathy 44 0.027
293
ATX003 Ataxia with Isolated Vitamin E Deficiency 44 0.027
294
HRT031 Hartnup Disorder 44 0.027
295
CHR008 Choroiditis 43 0.027
296
c SPN308 Spinocerebellar Ataxia 28 43 0.027
297
DNR002 Duane-Radial Ray Syndrome 43 0.027
298
MLL002 Miller Fisher Syndrome 43 0.027
299
HYP691 Hypomelanosis of Ito 42 0.027
300
c INF069 Infantile Neuroaxonal Dystrophy 1 42 0.027
301
CRN241 Corneal Dystrophy, Congenital Stromal 42 0.027
302
c USH003 Usher Syndrome Type Ii 42 0.027
303
PRP028 Peripheral Vertigo 41 0.027
304
c SPN305 Spinocerebellar Ataxia 11 41 0.027
305
MYC033 Myoclonus 41 0.027
306
c CNG124 Congenital Rubella 40 0.027
307
CDS002 Codas Syndrome 40 0.027
308
c ORF034 Orofaciodigital Syndrome Vi 39 0.027
309
RDN001 Reading Disorder 39 0.027
310
CRB026 Cerebellar Astrocytoma 39 0.027
311
NRN008 Neuronal Intranuclear Inclusion Disease 39 0.027
312
PTT004 Pituitary Apoplexy 39 0.027
313
JBR006 Joubert Syndrome with Oculorenal Anomalies 39 0.027
314
P DNR003 Duane Retraction Syndrome 1 39 0.027
315
LNS003 Lens Disease 38 0.027
316
ARC007 Arachnoid Cysts 38 0.027
317
ARC002 Arachnoiditis 38 0.027
318
CND005 Cone Dystrophy 38 0.027
319
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.027
320
WBR001 Weber Syndrome 37 0.027
321
DRF001 Dirofilariasis 37 0.027
322
SPN050 Spinocerebellar Degeneration 37 0.027
323
VRT001 Vertebral Artery Occlusion 37 0.027
324
ALR002 Al-Raqad Syndrome 36 0.027
325
TTR016 Tetra-Amelia Syndrome 36 0.027
326
CLB003 Coloboma of Optic Nerve 36 0.027
327
P OTS001 Otosclerosis 35 0.027
328
PPL048 Papillorenal Syndrome 35 0.027
329
c ATS282 Autosomal Recessive Malignant Osteopetrosis 35 0.027
330
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 35 0.027
331
c GRS013 Griscelli Syndrome, Type 1 34 0.027
332
MLN003 Melancholia 34 0.027
333
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33 0.027
334
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32 0.027
335
DSM002 Desmosterolosis 32 0.027
336
JBR005 Joubert Syndrome with Ocular Anomalies 32 0.027
337
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32 0.027
338
KFM001 Kaufman Oculocerebrofacial Syndrome 31 0.027
339
P SCH017 Schindler Disease 31 0.027
340
OLV004 Oliver-Mcfarlane Syndrome 31 0.027
341
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 30 0.027
342
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.027
343
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 29 0.027
344
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 29 0.027
345
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.027
346
c LBR013 Leber Congenital Amaurosis 3 29 0.027
347
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 29 0.027
348
CNT017 Central Nervous System Origin Vertigo 28 0.027
349
c LBR009 Leber Congenital Amaurosis 14 28 0.027
350
DNC004 Diencephalic Syndrome 28 0.027
351
JBR007 Joubert Syndrome with Renal Anomalies 27 0.027
352
c SPL024 Split-Hand/foot Malformation 3 27 0.027
353
CTR014 Cataract Microcornea Syndrome 26 0.027
354
FRS004 Free Sialic Acid Storage Disorders 26 0.027
355
CHR518 Chromosome 9p Deletion Syndrome 26 0.027
356
c LBR007 Leber Congenital Amaurosis 12 26 0.027
357
c LBR019 Leber Congenital Amaurosis 9 26 0.027
358
c FRN033 Frontonasal Dysplasia 2 25 0.027
359
c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 25 0.027
360
c ACH036 Achromatopsia-3 25 0.027
361
48X003 48,xxyy Syndrome 25 0.027
362
GZP002 Gaze Palsy, Horizontal, with Progressive Scoliosis 24 0.027
363
c LBR010 Leber Congenital Amaurosis 15 24 0.027
364
c ALB016 Albinism, Oculocutaneous, Type Vii 24 0.027
365
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 24 0.027
366
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.027
367
c LBR011 Leber Congenital Amaurosis 16 23 0.027
368
c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 23 0.027
369
GRL004 Gorlin-Chaudhry-Moss Syndrome 22 0.027
370
c FML306 Familial or Sporadic Hemiplegic Migraine 22 0.027
371
DYS045 Dysosteosclerosis 22 0.027
372
c STR085 Striatonigral Degeneration, Infantile 22 0.027
373
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22 0.027
374
MMS001 Momo Syndrome 22 0.027
375
MGL033 Megalocornea-Mental Retardation Syndrome 22 0.027
376
c EPS034 Episodic Ataxia, Type 5 21 0.027
377
ELJ001 Elejalde Disease 21 0.027
378
HYP213 Hypomelanotic Disorder 21 0.027
379
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 21 0.027
380
FTL062 Fetal Iodine Deficiency Disorder 21 0.027
381
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 21 0.027
382
c ATS004 Autosomal Dominant Microcephaly 20 0.027
383
CMB018 Combined Oxidative Phosphorylation Deficiency 7 20 0.027
384
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 20 0.027
385
PRT101 Poretti-Boltshauser Syndrome 19 0.027
386
16Q001 16q24.3 Microdeletion Syndrome 19 0.027
387
ATM053 Autoimmune Disease 2 19 0.027
388
SPN113 Spinocerebellar Ataxia with Dysmorphism 18 0.027
389
HMC036 Homocystinuria Without Methylmalonic Aciduria 18 0.027
390
LKN007 Leukonychia Totalis 18 0.027
391
NRD013 Neurodegeneration with Optic Atrophy, Childhood Onset 18 0.027
392
ATX037 Ataxia-Deafness-Retardation Syndrome 18 0.027
393
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 18 0.027
394
c ACH038 Achromatopsia 7 18 0.027
395
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 18 0.027
396
c PLL014 Pellagra-Like Syndrome 17 0.027
397
CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 16 0.027
398
RTN185 Retinal Dysplasia, Primary 16 0.027
399
OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 16 0.027
400
HSH001 Hashimoto-Pritzker Syndrome 16 0.027
401
CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 16 0.027
402
c INF044 Infantile Axonal Neuropathy 16 0.027
403
c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 16 0.027
404
SPS192 Spastic Paraparesis and Deafness 15 0.027
405
ERM001 Ermine Phenotype 15 0.027
406
PRT055 Prieto X-Linked Mental Retardation Syndrome 15 0.027
407
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.027
408
SBR011 Subaortic Stenosis--Short Stature Syndrome 14 0.027
409
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.027
410
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 14 0.027
411
6Q1001 6q16 Deletion Syndrome 14 0.027
412
CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 14 0.027
413
DST045 Distal Trisomy 6p 13 0.027
414
19P001 19p13.12 Microdeletion Syndrome 13 0.027
415
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 0.027
416
AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 13 0.027
417
8P1001 8p11.2 Deletion Syndrome 13 0.027
418
CHR171 Choroideremia Hypopituitarism 13 0.027
419
PRX084 Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 12 0.027
420
CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 12 0.027
421
CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 12 0.027
422
OLV003 Olivopontocerebellar Atrophy Deafness 11 0.027
423
TPT004 Tapetoretinal Degeneration with Ataxia 11 0.027
424
ARC021 Auriculoocular Anomalies-Cleft Lip Syndrome 9 0.027
425
TRC107 Trichodermal Syndrome-Intellectual Disability Syndrome 9 0.027
426
DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 7 0.027
427
P RHM011 Rheumatoid Arthritis 88 0.019
428
MLR004 Malaria 79 0.019
429
ULC004 Ulcerative Colitis 75 0.019
430
MYL009 Myelodysplastic Syndrome 74 0.019
431
GST019 Gastrointestinal Stromal Tumor 72 0.019
432
ADR007 Adrenoleukodystrophy 71 0.019
433
c LKM061 Leukemia, Acute Myeloid 71 0.019
434
c MCL042 Macular Degeneration, Age-Related, 1 71 0.019
435
KRT004 Keratitis 70 0.019
436
P LKM002 Leukemia 70 0.019
437
KWS002 Kawasaki Disease 70 0.019
438
P KRB001 Krabbe Disease 69 0.019
439
PRP027 Peripheral Vascular Disease 69 0.019
440
TBR010 Tuberculosis 69 0.019
441
SCK003 Sickle Cell Anemia 68 0.019
442
P LPR003 Leprosy 68 0.019
443
ISC006 Ischemic Heart Disease 68 0.019
444
PLM001 Pulmonary Tuberculosis 68 0.019
445
P MYL006 Myeloid Leukemia 67 0.019
446
P MYP004 Myopathy 67 0.019
447
MLD001 Melioidosis 67 0.019
448
P PNM007 Pneumonia 66 0.019
449
OBS061 Obstructive Sleep Apnea 66 0.019
450
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.019
451
P PLY011 Polycystic Ovary Syndrome 66 0.019
452
P EPL164 Epilepsy 66 0.019
453
P LKM068 Leukemia, Chronic Myeloid, Somatic 66 0.019
454
BRK010 Burkitt Lymphoma 66 0.019
455
P MNN013 Meningitis 65 0.019
456
ACR007 Acromegaly 65 0.019
457
DFC004 Deficiency Anemia 65 0.019
458
P CNJ013 Conjunctivitis 65 0.019
459
BSL036 Basal Cell Nevus Syndrome 65 0.019
460
BRC012 Brucellosis 65 0.019
461
PRT037 Pertussis 64 0.019
462
P PRM019 Premature Ovarian Failure 64 0.019
463
ALL003 Allergic Rhinitis 64 0.019
464
c LKM062 Leukemia, Acute Lymphoblastic 64 0.019
465
PSR001 Psoriatic Arthritis 64 0.019
466
c HMP029 Hemophilia a 64 0.019
467
HMT002 Hematologic Cancer 64 0.019
468
CHR103 Charge Syndrome 64 0.019
469
CHR066 Chronic Fatigue Syndrome 64 0.019
470
P DYS154 Dystonia 64 0.019
471
AND015 Androgen Insensitivity 63 0.019
472
MTH009 Mouth Disease 63 0.019
473
P LPS004 Lupus Erythematosus 63 0.019
474
P CRT072 Creutzfeldt-Jakob Disease 63 0.019
475
GLN010 Glanzmann Thrombasthenia 63 0.019
476
P ANR007 Anorexia Nervosa 63 0.019
477
LPT001 Leptospirosis 63 0.019
478
c SPN225 Spondyloarthropathy 1 63 0.019
479
LYM017 Lyme Disease 63 0.019
480
P SPN301 Spinocerebellar Ataxia 2 63 0.019
481
c HMP004 Hemophilia B 62 0.019
482
P NRV006 Nervous System Cancer 62 0.019
483
RSP006 Respiratory System Disease 62 0.019
484
c KNN009 Kenny-Caffey Syndrome, Type 1 62 0.019
485
RCT015 Reactive Arthritis 62 0.019
486
LKM066 Leukemia, Acute Myelomonocytic, Somatic, Somatic 62 0.019
487
LSH001 Leishmaniasis 62 0.019
488
CNT047 Contact Dermatitis 62 0.019
489
APH001 Aphthous Stomatitis 62 0.019
490
PLM129 Pulmonary Disease, Chronic Obstructive 62 0.019
491
CTN007 Cutaneous Leishmaniasis 62 0.019
492
PRT036 Peritonitis 62 0.019
493
FCT003 Factor X Deficiency 62 0.019
494
WGN006 Wegener Granulomatosis 62 0.019
495
P OST001 Osteopetrosis 62 0.019
496
CHG001 Chagas Disease 62 0.019
497
FCT007 Factor Vii Deficiency 62 0.019
498
VSC011 Vasculitis 62 0.019
499
c ACT073 Acute Leukemia 62 0.019
500
OCL009 Ocular Cancer 62 0.019
501
TTN003 Tetanus 61 0.019
502
PRM097 Primary Immunodeficiency Disease 61 0.019
503
OMN001 Omenn Syndrome 61 0.019
504
TXC005 Toxic Shock Syndrome 61 0.019
505
P DNT015 Dent Disease 61 0.019
506
HSH003 Hashimoto Thyroiditis 61 0.019
507
CHR063 Chronic Mucocutaneous Candidiasis 61 0.019
508
MTC007 Mitochondrial Complex I Deficiency 61 0.019
509
c ESS001 Essential Tremor 61 0.019
510
WLL001 Williams-Beuren Syndrome 61 0.019
511
P INT068 Intestinal Disease 61 0.019
512
P ALP009 Alopecia Areata 61 0.019
513
P ANG001 Angelman Syndrome 61 0.019
514
P GRV001 Graves' Disease 61 0.019
515
TYP007 Typhoid Fever 61 0.019
516
VNW001 Von Willebrand's Disease 61 0.019
517
CNN005 Connective Tissue Disease 61 0.019
518
P INF032 Infertility 61 0.019
519
P SLP006 Sleep Apnea 61 0.019
520
MSL001 Measles 61 0.019
521
P ASP006 Aspergillosis 60 0.019
522
P TXP001 Toxoplasmosis 60 0.019
523
P LYM026 Lymphoblastic Leukemia 60 0.019
524
P ADL010 Adult Respiratory Distress Syndrome 60 0.019
525
P SPN052 Spondyloarthropathy 60 0.019
526
TKY002 Takayasu Arteritis 60 0.019
527
APP008 Appendicitis 60 0.019
528
c EXD008 Exudative Vitreoretinopathy 1 60 0.019
529
GST045 Gastroenteritis 60 0.019
530
FCT006 Factor V Deficiency 60 0.019
531
QFV001 Q Fever 60 0.019
532
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.019
533
P RTN025 Retinoschisis 59 0.019
534
PLM033 Pulmonary Embolism 59 0.019
535
c CNT035 Central Nervous System Disease 59 0.019
536
PLM031 Poliomyelitis 59 0.019
537
c LCL006 Localized Scleroderma 59 0.019
538
CHL123 Chlamydia 59 0.019
539
P UVT001 Uveitis 59 0.019
540
VRL011 Viral Infectious Disease 59 0.019
541
OST017 Osteomyelitis 59 0.019
542
CHY002 Chylomicron Retention Disease 59 0.019
543
ADM013 Adamantinoma of Long Bones 59 0.019
544
ALC006 Alcoholic Hepatitis 59 0.019
545
CLT003 Colitis 59 0.019
546
c HPT003 Hepatitis a 59 0.019
547
P THR015 Thrombophilia 59 0.019
548
ISC004 Ischemia 59 0.019
549
ADN018 Adenoma 59 0.019
550
P NTR004 Neutropenia 59 0.019
551
STT001 Status Epilepticus 59 0.019
552
P NRM001 Neuromyelitis Optica 59 0.019
553
DBT087 Diabetes Insipidus, Neurohypophyseal 59 0.019
554
P ANT006 Antiphospholipid Syndrome 58 0.019
555
P SYS005 Systemic Scleroderma 58 0.019
556
c ATM011 Autoimmune Hepatitis 58 0.019
557
c RHM021 Rheumatoid Arthritis, Systemic Juvenile 58 0.019
558
c SRC025 Sarcoidosis 1 58 0.019
559
ALL006 Allergic Asthma 58 0.019
560
SCH014 Schistosomiasis 58 0.019
561
LYM021 Lymphadenitis 58 0.019
562
DNG003 Dengue Disease 58 0.019
563
P LKD001 Leukodystrophy 58 0.019
564
BRN012 Bronchiolitis Obliterans 58 0.019
565
TNS005 Tonsillitis 58 0.019
566
ALP001 Alopecia Universalis 57 0.019
567
RTN017 Retinal Detachment 57 0.019
568
ACS001 Acoustic Neuroma 57 0.019
569
RHM027 Rheumatic Disease 57 0.019
570
HYP020 Hyperprolactinemia 57 0.019
571
ALL010 Allergic Contact Dermatitis 57 0.019
572
HMR004 Hemorrhagic Fever with Renal Syndrome 57 0.019
573
CTS003 Coats Disease 57 0.019
574
NRM005 Neuromuscular Disease 57 0.019
575
P HMR003 Hemorrhagic Disease 57 0.019
576
c THR082 Thrombophilia Due to Activated Protein C Resistance 57 0.019
577
ABL002 Ablepharon-Macrostomia Syndrome 57 0.019
578
ADL030 Adult-Onset Still's Disease 57 0.019
579
ERY003 Erythema Multiforme 57 0.019
580
c SVR001 Severe Acute Respiratory Syndrome 57 0.019
581
IDP011 Idiopathic Interstitial Pneumonia 57 0.019
582
LGG001 Legg-Calve-Perthes Disease 57 0.019
583
TRP002 Tropical Spastic Paraparesis 57 0.019
584
ADR005 Adrenal Carcinoma 56 0.019
585
P MMP001 Mumps 56 0.019
586
P RBL001 Rubella 56 0.019
587
SPT005 Spotted Fever 56 0.019
588
P SCL018 Scoliosis 56 0.019
589
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.019
590
GLL022 Guillain-Barre Syndrome 56 0.019
591
c THR092 Thrombophilia Due to Thrombin Defect 56 0.019
592
P PTS002 Ptosis 56 0.019
593
BRN002 Bronchiolitis 56 0.019
594
P BDD001 Budd-Chiari Syndrome 56 0.019
595
PLM010 Pulmonary Edema 56 0.019
596
c ACT027 Acute Pancreatitis 56 0.019
597
P HYP076 Hyperthyroidism 56 0.019
598
FCT022 Factor Xi Deficiency, Autosomal Recessive 56 0.019
599
P HMP007 Hemophilia 56 0.019
600
PRS047 Prostatitis 56 0.019
601
MSC077 Muscle Eye Brain Disease 56 0.019
602
VSC003 Visceral Leishmaniasis 55 0.019
603
ALP008 Alopecia 55 0.019
604
PRC002 Paracoccidioidomycosis 55 0.019
605
P OVR049 Ovarian Disease 55 0.019
606
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.019
607
KLN001 Klinefelter's Syndrome 55 0.019
608
CHN016 Cohen Syndrome 55 0.019
609
P PLY017 Polyarteritis Nodosa 55 0.019
610
FLR002 Filariasis 55 0.019
611
P CNV004 Canavan Disease 55 0.019
612
CHR285 Chronic Myelomonocytic Leukemia 55 0.019
613
P MNC007 Monocytic Leukemia 55 0.019
614
P ACT074 Acute Lymphocytic Leukemia 55 0.019
615
P FND001 Fundus Albipunctatus 55 0.019
616
GNT003 Genital Herpes 54 0.019
617
c BCT007 Bacterial Meningitis 54 0.019
618
OST024 Osteoporosis-Pseudoglioma Syndrome 54 0.019
619
LST001 Listeriosis 54 0.019
620
HYP080 Hypogonadism 54 0.019
621
P PRP019 Peripheral Nervous System Disease 54 0.019
622
PLS007 Plasmodium Falciparum Malaria 54 0.019
623
P HYP620 Hypoprothrombinemia 54 0.019
624
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.019
625
c VRL007 Viral Encephalitis 54 0.019
626
MVL001 Mevalonic Aciduria 54 0.019
627
c OPT055 Optic Atrophy Plus Syndrome 54 0.019
628
FCL009 Focal Dermal Hypoplasia 54 0.019
629
GRF001 Graft-Versus-Host Disease, Protection Against 54 0.019
630
P STR022 Stargardt Disease 54 0.019
631
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.019
632
LYM040 Lymphoblastic Lymphoma 54 0.019
633
c BRD010 Bardet-Biedl Syndrome 1 54 0.019
634
c AFB002 Afibrinogenemia, Congenital 54 0.019
635
PLM012 Pulmonary Sarcoidosis 54 0.019
636
FDL002 Food Allergy 54 0.019
637
P MYC008 Myocarditis 54 0.019
638
KRT002 Keratomalacia 54 0.019
639
P CNG001 Congenital Myasthenic Syndrome 53 0.019
640
c CNT075 Central Precocious Puberty 53 0.019
641
P LCH002 Lichen Planus 53 0.019
642
PST046 Post-Transplant Lymphoproliferative Disease 53 0.019
643
P ACT135 Acute Graft Versus Host Disease 53 0.019
644
P INT063 Intellectual Disability 53 0.019
645
c TCL005 T-Cell Prolymphocytic Leukemia 53 0.019
646
ART002 Arts Syndrome 53 0.019
647
ALL026 Allergic Hypersensitivity Disease 53 0.019
648
CFF003 Caffey Disease 53 0.019
649
SML019 Smallpox 53 0.019
650
ECH003 Echinococcosis 53 0.019
651
PLV003 Pelvic Inflammatory Disease 53 0.019
652
P DBT005 Diabetes Insipidus 53 0.019
653
PLS006 Plasmodium Vivax Malaria 53 0.019
654
INT075 Intracranial Hypertension 53 0.019
655
MGK001 Megakaryocytic Leukemia 53 0.019
656
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.019
657
P CYS018 Cystitis 53 0.019
658
P GND004 Gonadal Dysgenesis 53 0.019
659
CRV040 Cervix Carcinoma 53 0.019
660
PTT049 Pituitary Adenoma, Acth-Secreting 53 0.019
661
INT007 Intermediate Coronary Syndrome 52 0.019
662
P PYL005 Pyelonephritis 52 0.019
663
BNM001 Bone Marrow Cancer 52 0.019
664
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.019
665
LYS002 Lysosomal Storage Disease 52 0.019
666
P BRC006 Brachydactyly 52 0.019
667
c HPT015 Hepatitis D 52 0.019
668
END030 End Stage Renal Failure 52 0.019
669
HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 52 0.019
670
c STR084 Stargardt Disease 1 52 0.019
671
c LKM060 Leukemia, Acute Lymphoblastic 3 52 0.019
672
P MSC033 Muscle Disorders 52 0.019
673
PRT014 Protein S Deficiency 52 0.019
674
KRT006 Keratoconjunctivitis 52 0.019
675
c PSD067 Pseudohypoparathyroidism Ia 52 0.019
676
P END033 Endocarditis 52 0.019
677
OPT037 Optic Nerve Hypoplasia 52 0.019
678
c ACT009 Acute Monocytic Leukemia 52 0.019
679
APP015 Apparent Mineralocorticoid Excess 52 0.019
680
c INT064 Intermediate Uveitis 52 0.019
681
TRY001 Trypanosomiasis 52 0.019
682
VND001 Vein Disease 52 0.019
683
PRC013 Pericarditis 52 0.019
684
MCN007 Meconium Aspiration Syndrome 51 0.019
685
IRN001 Iron Deficiency Anemia 51 0.019
686
THY030 Thyroid Gland Disease 51 0.019
687
ALL009 Allergic Conjunctivitis 51 0.019
688
PRT011 Protein C Deficiency 51 0.019
689
P FNC026 Fanconi Renotubular Syndrome 1 51 0.019
690
DSS009 Disseminated Intravascular Coagulation 51 0.019
691
P DDN001 Duodenal Ulcer 51 0.019
692
HNT002 Hantavirus Pulmonary Syndrome 51 0.019
693
CYT008 Cytomegalovirus Infection 51 0.019
694
ASP003 Aseptic Meningitis 51 0.019
695
CRT049 Critical Limb Ischemia 51 0.019
696
c INF067 Inflammatory Bowel Disease 10 51 0.019
697
P PRC019 Precocious Puberty 51 0.019
698
MYC002 Mycobacterium Avium Complex Disease 51 0.019
699
AMN001 Amenorrhea 51 0.019
700
PTH002 Pathological Gambling 51 0.019
701
CMB023 Combined Immunodeficiency, X-Linked, Moderate 51 0.019
702
FCT004 Factor Xii Deficiency 51 0.019
703
RHM028 Rheumatic Heart Disease 51 0.019
704
CRN030 Coronary Stenosis 50 0.019
705
PSD014 Pseudopseudohypoparathyroidism 50 0.019
706
c CHR417 Chronic Graft Versus Host Disease 50 0.019
707
P OVR046 Ovarian Cyst 50 0.019
708
NTR040 Neutropenia, Cyclic 50 0.019
709
c VRL012 Viral Meningitis 50 0.019
710
SPN051 Spondylitis 50 0.019
711
INT051 Intussusception 50 0.019
712
VRC001 Varicocele 50 0.019
713
PTT048 Pituitary Adenoma, Prolactin-Secreting 50 0.019
714
c ACT068 Acute Cystitis 50 0.019
715
GLL032 Galloway-Mowat Syndrome 50 0.019
716
MTC020 Mitochondrial Complex Ii Deficiency 50 0.019
717
PRN021 Paranasal Sinus Disease 50 0.019
718
c ATX006 Ataxia-Telangiectasia-Like Disorder 50 0.019
719
PLR008 Pleurisy 50 0.019
720
INF034 Infective Endocarditis 50 0.019
721
RTN020 Retinal Vascular Disease 50 0.019
722
PLC005 Placental Insufficiency 50 0.019
723
P CTN003 Cutaneous Lupus Erythematosus 50 0.019
724
VNB005 Van Buchem Disease 50 0.019
725
P WRD020 Waardenburg Syndrome, Type 4a 50 0.019
726
VNW005 Von Willebrand Disease, Type 1 50 0.019
727
RHM001 Rheumatic Fever 50 0.019
728
OVR063 Overnutrition 49 0.019
729
SCH002 Schnitzler Syndrome 49 0.019
730
ASP001 Asperger Syndrome 49 0.019
731
CLF001 Cleft Lip 49 0.019
732
LPR001 Lepromatous Leprosy 49 0.019
733
CYT005 Cytomegalovirus Retinitis 49 0.019
734
SRT004 Serotonin Syndrome 49 0.019
735
CCC002 Coccidiosis 49 0.019
736
ADR012 Adrenal Gland Disease 49 0.019
737
P SCL015 Scleritis 49 0.019
738
c SPN314 Spinocerebellar Ataxia 10 49 0.019
739
RLP001 Relapsing Polychondritis 49 0.019
740
c SPN291 Spinocerebellar Ataxia 7 49 0.019
741
CHR001 Churg-Strauss Syndrome 49 0.019
742
c ATS308 Autosomal Dominant Cerebellar Ataxia 49 0.019
743
SPN020 Spondylosis 49 0.019
744
HMG002 Hemoglobinuria 49 0.019
745
PRT038 Protein-Energy Malnutrition 49 0.019
746
P PNV001 Panuveitis 49 0.019
747
DBF001 D-Bifunctional Protein Deficiency 49 0.019
748
GYN001 Gynecomastia 49 0.019
749
P CHL066 Cholangitis 49 0.019
750
HND002 Hand, Foot and Mouth Disease 48 0.019
751
PTT009 Pituitary Gland Disease 48 0.019
752
FML039 Female Reproductive System Disease 48 0.019
753
APR001 Apraxia 48 0.019
754
P CMP008 Compartment Syndrome 48 0.019
755
CRN027 Corneal Neovascularization 48 0.019
756
P TRN034 Transverse Myelitis 48 0.019
757
c HRM005 Hermansky-Pudlak Syndrome 1 48 0.019
758
SLP001 Sleeping Sickness 48 0.019
759
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 48 0.019
760
MYL003 Myeloid Sarcoma 48 0.019
761
c 46X001 46 Xy Gonadal Dysgenesis 48 0.019
762
c ORF040 Orofaciodigital Syndrome Viii 48 0.019
763
HYP043 Hyperandrogenism 48 0.019
764
UPP004 Upper Respiratory Tract Disease 48 0.019
765
CGN006 Cogan Syndrome 48 0.019
766
c SPN296 Spinocerebellar Ataxia 17 48 0.019
767
CHL061 Childhood Leukemia 48 0.019
768
CRN017 Coronary Thrombosis 48 0.019
769
LMB002 Lambert-Eaton Myasthenic Syndrome 48 0.019
770
DNT016 Dentatorubro-Pallidoluysian Atrophy 48 0.019
771
CHR005 Chorioamnionitis 48 0.019
772
SPL012 Splenic Disease 47 0.019
773
BRL010 Buruli Ulcer 47 0.019
774
URN003 Urinary Schistosomiasis 47 0.019
775
ADR013 Adrenal Gland Hyperfunction 47 0.019
776
PST062 Pustulosis Palmaris Et Plantaris 47 0.019
777
P STS008 Sotos Syndrome 1 47 0.019
778
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 47 0.019
779
PLP001 Pulpitis 47 0.019
780
46X003 46,xx Testicular Disorder of Sex Development 47 0.019
781
CHR563 Chronic Eosinophilic Leukemia 47 0.019
782
ECT006 Ectodermal Dysplasia 47 0.019
783
THY009 Thyroid Lymphoma 47 0.019
784
CRB027 Cerebellar Disease 47 0.019
785
FRM003 Farmer's Lung 47 0.019
786
GLC008 Glucose Metabolism Disease 47 0.019
787
PLR001 Pleural Tuberculosis 47 0.019
788
P MCL066 Macular Dystrophy, Vitelliform, 2 47 0.019
789
ANT011 Antisocial Personality Disorder 47 0.019
790
MCR191 Microscopic Colitis 47 0.019
791
VTR005 Vitreous Disease 47 0.019
792
CNT046 Central Nervous System Vasculitis 47 0.019
793
NTR003 Natural Killer Cell Leukemia 47 0.019
794
c SPN312 Spinocerebellar Ataxia 14 46 0.019
795
P EXD001 Exudative Vitreoretinopathy 46 0.019
796
PRM020 Premenstrual Tension 46 0.019
797
BNN003 Bone Inflammation Disease 46 0.019
798
RPR002 Reproductive System Disease 46 0.019
799
OBS015 Obesity, Hyperphagia, and Developmental Delay 46 0.019
800
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 46 0.019
801
CLF004 Cleft Lip/palate 46 0.019
802
c OPT053 Optic Atrophy 1 46 0.019
803
EPS004 Episodic Ataxia/myokymia Syndrome 46 0.019
804
PLR006 Pleural Cancer 46 0.019
805
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 46 0.019
806
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 46 0.019
807
MST001 Mast-Cell Sarcoma 46 0.019
808
MCC002 Mucocutaneous Leishmaniasis 46 0.019
809
FSC004 Fasciitis 46 0.019
810
P AFB001 Afibrinogenemia 46 0.019
811
ELS001 Eales Disease 46 0.019
812
CRD137 Cardiogenic Shock 46 0.019
813
P ANL018 Analbuminemia 46 0.019
814
c ACT042 Acute Pyelonephritis 46 0.019
815
AMB002 Amblyopia 46 0.019
816
SPP008 Suppurative Otitis Media 45 0.019
817
ANV001 Anovulation 45 0.019
818
c HRM006 Hermansky-Pudlak Syndrome 3 45 0.019
819
P BLD051 Blood Coagulation Disease 45 0.019
820
NTR018 Neutrophilia, Hereditary 45 0.019
821
CRN248 Craniofrontonasal Dysplasia 45 0.019
822
TRC012 Trichuriasis 45 0.019
823
EWN002 Ewing's Family of Tumors 45 0.019
824
P SCL048 Sclerosteosis 45 0.019
825
MTC057 Mitochondrial Recessive Ataxia Syndrome 45 0.019
826
BBS001 Babesiosis 45 0.019
827
c RTN172 Retinitis Pigmentosa 1 45 0.019
828
IDP064 Idiopathic Neutropenia 45 0.019
829
PRS036 Parasitic Protozoa Infectious Disease 45 0.019
830
c PRM196 Premature Ovarian Failure 1 44 0.019
831
CLN003 Clonorchiasis 44 0.019
832
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 44 0.019
833
SHH001 Sheehan Syndrome 44 0.019
834
UTR043 Uterine Sarcoma 44 0.019
835
c TYR013 Tyrosinemia, Type Ii 44 0.019
836
PTT008 Pituitary Carcinoma 44 0.019
837
MNC006 Monoclonal Gammopathy of Uncertain Significance 44 0.019
838
P ART084 Arteriovenous Fistula 44 0.019
839
DDN006 Duodenitis 44 0.019
840
LYM116 Lymph Node Disease 44 0.019
841
PRN019 Perinatal Necrotizing Enterocolitis 44 0.019
842
CHR286 Chronic Neutrophilic Leukemia 44 0.019
843
CRD001 Cardiac Tamponade 44 0.019
844
OCL069 Ocular Motor Apraxia 44 0.019
845
HYP085 Hypothalamic Disease 44 0.019
846
c XRD015 Xeroderma Pigmentosum, Group F 44 0.019
847
P SLL003 Salla Disease 43 0.019
848
WRN002 Wernicke-Korsakoff Syndrome 43 0.019
849
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 43 0.019
850
P PRL003 Proliferative Glomerulonephritis 43 0.019
851
CHR276 Chronic Active Epstein-Barr Virus Infection 43 0.019
852
STP004 Staphylococcal Toxic Shock Syndrome 43 0.019
853
NLS001 Nelson Syndrome 43 0.019
854
LYM067 Lymphoid Leukemia 43 0.019
855
PRM025 Primary Bacterial Infectious Disease 43 0.019
856
c RTN087 Retinal Degeneration, Late-Onset, Autosomal Dominant 43 0.019
857
RHM014 Rheumatoid Vasculitis 43 0.019
858
TRC023 Trichinosis 43 0.019
859
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.019
860
CLD007 Cold Agglutinin Disease 43 0.019
861
ACT087 Acth Deficiency 43 0.019
862
GND003 Gonadal Disease 43 0.019
863
EVN001 Evans' Syndrome 43 0.019
864
AMN006 Aminoaciduria 42 0.019
865
PRS034 Parasitic Helminthiasis Infectious Disease 42 0.019
866
OPP002 Opportunistic Mycosis 42 0.019
867
URM005 Uremic Pruritus 42 0.019
868
c SPN290 Spinocerebellar Ataxia 15 42 0.019
869
LKM006 Leukomalacia 42 0.019
870
P RSM001 Rasmussen Encephalitis 42 0.019
871
SPS057 Spasticity 42 0.019
872
IMM127 Immune System Cancer 42 0.019
873
P PRP034 Purpura Fulminans 42 0.019
874
c VRL005 Viral Pneumonia 42 0.019
875
GRS011 Gerstmann-Straussler Disease 42 0.019
876
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 42 0.019
877
GRN017 Granulocytopenia 42 0.019
878
TNS007 Taeniasis 42 0.019
879
c ACQ014 Acquired Hemophilia 42 0.019
880
P LSS027 Lissencephaly, X-Linked 42 0.019
881
HYP099 Hyperferritinemia-Cataract Syndrome 42 0.019
882
THR035 Thrombasthenia 42 0.019
883
ACT103 Acute Lymphoblastic Leukemia, Childhood 42 0.019
884
LSB001 Louse-Borne Relapsing Fever 42 0.019
885
NSL022 Nasal Cavity Disease 42 0.019
886
SML008 Small Intestine Lymphoma 41 0.019
887
CRB138 Core Binding Factor Acute Myeloid Leukemia 41 0.019
888
PRS021 Prostatic Adenoma 41 0.019
889
HYP458 Hyper Ige Syndrome 41 0.019
890
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 41 0.019
891
c CHR576 Chronic Beryllium Disease 41 0.019
892
SQM002 Squamous Cell Papilloma 41 0.019
893
DYS015 Dysentery 41 0.019
894
c ATM022 Autoimmune Myocarditis 41 0.019
895
P PRR025 Perrault Syndrome 41 0.019
896
HPT070 Hepatosplenic T-Cell Lymphoma 41 0.019
897
CTS005 Catastrophic Antiphospholipid Syndrome 41 0.019
898
TBR008 Tuberculous Peritonitis 41 0.019
899
PNC085 Penicillin Allergy 41 0.019
900
P CHR562 Chronic Myelocytic Leukemia 41 0.019
901
SPN369 Spinal Disease 41 0.019
902
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 41 0.019
903
P ACQ009 Acquired Metabolic Disease 41 0.019
904
FNC007 Functioning Pituitary Adenoma 41 0.019
905
ADR009 Adrenal Cortex Disease 41 0.019
906
c SPN100 Spinocerebellar Ataxia 27 41 0.019
907
c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 41 0.019
908
c HYP072 Hypersensitivity Reaction Type Iii Disease 41 0.019
909
ANP009 Anaplastic Oligodendroglioma 41 0.019
910
PRM026 Primary Systemic Mycosis 41 0.019
911
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 0.019
912
CHR034 Chromophobe Adenoma 41 0.019
913
c SPN106 Spinocerebellar Ataxia 5 41 0.019
914
EMP001 Empty Sella Syndrome 40 0.019
915
HYP070 Hyperpituitarism 40 0.019
916
PRC030 Precocious Puberty, Male 40 0.019
917
P HRM017 Hermansky-Pudlak Syndrome 2 40 0.019
918
SXD001 Sex Differentiation Disease 40 0.019
919
OPT008 Optic Nerve Neoplasm 40 0.019
920
NPH004 Nephropathia Epidemica 40 0.019
921
PRS055 Pierson Syndrome 40 0.019
922
BRN003 Branchiooculofacial Syndrome 40 0.019
923
LNG013 Lung Lymphoma 40 0.019
924
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 40 0.019
925
KRN001 Korean Hemorrhagic Fever 40 0.019
926
HYP189 Hypoadrenalism 40 0.019
927
SPC003 Specific Developmental Disorder 40 0.019
928
CHR073 Choreatic Disease 40 0.019
929
PDT001 Pediatric Lymphoma 40 0.019
930
PTT003 Pituitary-Dependent Cushing's Disease 40 0.019
931
c SBC007 Subacute Thyroiditis 39 0.019
932
SCK001 Sick Building Syndrome 39 0.019
933
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.019
934
SCT002 Scotoma 39 0.019
935
c INH004 Inherited Blood Coagulation Disease 39 0.019
936
CRT009 Critical Illness Polyneuropathy 39 0.019
937
c ACQ042 Acquired Hemophilia a 39 0.019
938
BRN026 Branch Retinal Artery Occlusion 39 0.019
939
EXT035 Extrinsic Cardiomyopathy 39 0.019
940
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 39 0.019
941
SNG007 Sengers Syndrome 39 0.019
942
SLC005 Selective Iga Deficiency Disease 39 0.019
943
P NRX001 Neuroaxonal Dystrophy 39 0.019
944
VRN001 Vernal Conjunctivitis 39 0.019
945
P BRN035 Brain Stem Glioma 39 0.019
946
CNT018 Central Nervous System Leukemia 39 0.019
947
c CCK005 Cockayne Syndrome, Type a 39 0.019
948
HRM002 Hermaphroditism 38 0.019
949
GRN009 Granulomatous Hepatitis 38 0.019
950
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 38 0.019
951
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 38 0.019
952
PLM011 Plummer's Disease 38 0.019
953
ART006 Arthus Reaction 38 0.019
954
HYP064 Hypogonadotropism 38 0.019
955
CST005 Castleman Disease 38 0.019
956
ANM008 Anemia, Sideroblastic, with Ataxia 38 0.019
957
FNS001 Funisitis 38 0.019
958
STR002 Streptococcal Meningitis 38 0.019
959
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 38 0.019
960
NRM006 Neuromuscular Junction Disease 38 0.019
961
c CHR579 Chiari Malformation Type Ii 38 0.019
962
c ACT059 Acute Maxillary Sinusitis 38 0.019
963
EST004 Estrogen Excess 38 0.019
964
RVS001 Revesz Syndrome 38 0.019
965
MTC054 Mitochondrial Dna Depletion Syndrome 7 38 0.019
966
c CHR320 Chiari Malformation Type I 38 0.019
967
LTX001 Latex Allergy 38 0.019
968
CYC007 Cyclic Thrombocytopenia 37 0.019
969
DVL001 Developmental Coordination Disorder 37 0.019
970
ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 37 0.019
971
CVR010 Cavernous Malformation 37 0.019
972
P CHR342 Chiari Malformation 37 0.019
973
P PRS062 Persistent Hyperplastic Primary Vitreous 37 0.019
974
ADR001 Adrenal Rest Tumor 37 0.019
975
ALX002 Alexithymia 37 0.019
976
GNT006 Giant Papillary Conjunctivitis 37 0.019
977
FRG010 Fragile X Tremor/ataxia Syndrome 37 0.019
978
BRD009 Bradyopsia 37 0.019
979
STC004 Stachybotrys Chartarum 37 0.019
980
CLN005 Colon Lymphoma 37 0.019
981
c CTR130 Cataract 9, Multiple Types 37 0.019
982
END036 Endocrine Organ Benign Neoplasm 37 0.019
983
c CCK006 Cockayne Syndrome, Type B 37 0.019
984
LCH001 Leech Infestation 37 0.019
985
PST055 Postural Hypotension 37 0.019
986
P CMM008 Communicating Hydrocephalus 37 0.019
987
LKC002 Leukocoria 37 0.019
988
c TRN009 Transient Hypogammaglobulinemia of Infancy 37 0.019
989
ACT216 Acute Leukemia of Ambiguous Lineage 36 0.019
990
MSC004 Muscle Tissue Disease 36 0.019
991
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 36 0.019
992
INT221 Intravascular Large B-Cell Lymphoma 36 0.019
993
BTL002 Beta-Lactam Allergy 36 0.019
994
PCH002 Pachygyria 36 0.019
995
TNG001 Tungiasis 36 0.019
996
ORF044 Orofacial Granulomatosis 36 0.019
997
c SPN103 Spinocerebellar Ataxia 31 36 0.019
998
LCH004 Lichen Disease 36 0.019
999
ACL001 Acalculous Cholecystitis 36 0.019
1000
ANR018 Anorchia 36 0.019
1001
CRT012 Cortical Blindness 36 0.019
1002
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.019
1003
OST008 Osteosclerotic Myeloma 36 0.019
1004
MRN002 Mooren's Ulcer 36 0.019
1005
PTC001 Potocki-Shaffer Syndrome 36 0.019
1006
c SPN096 Spinocerebellar Ataxia 21 35 0.019
1007
TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 35 0.019
1008
LMB010 Lambert Syndrome 35 0.019
1009
RNL021 Renal Tubular Transport Disease 35 0.019
1010
P 8P1002 8p11 Myeloproliferative Syndrome 35 0.019
1011
OBS004 Obstructive Hydrocephalus 35 0.019
1012
ENG004 Engraftment Syndrome 35 0.019
1013
END045 Endometriosis of Uterus 35 0.019
1014
CLR064 Colorblindness, Tritan 35 0.019
1015
BRN036 Brain Stem Infarction 35 0.019
1016
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.019
1017
c SPN094 Spinocerebellar Ataxia 18 35 0.019
1018
BSL004 Basilar Artery Occlusion 35 0.019
1019
ATY001 Atypical Depressive Disorder 35 0.019
1020
BLD028 Bladder Lymphoma 35 0.019
1021
THY003 Thymic Dysplasia 35 0.019
1022
c ATM093 Autoimmune Disease of Peripheral Nervous System 35 0.019
1023
ADN022 Adenylosuccinase Deficiency 35 0.019
1024
BLT003 Blue Toe Syndrome 35 0.019
1025
NCR001 Necrotizing Ulcerative Gingivitis 35 0.019
1026
CHS002 Chiasmal Syndrome 35 0.019
1027
PPL019 Papillary Conjunctivitis 34 0.019
1028
CND006 Candida Glabrata 34 0.019
1029
HYP015 Hyperlucent Lung 34 0.019
1030
VRS001 Virus Associated Hemophagocytic Syndrome 34 0.019
1031
c ACQ012 Acquired Angioedema 34 0.019
1032
CHR079 Choroid Disease 34 0.019
1033
CLR063 Colorblindness, Deutan 34 0.019
1034
FMR003 Femoral Neuropathy 34 0.019
1035
FLC001 Folic Acid Deficiency Anemia 34 0.019
1036
CRY008 Cryopyrin-Associated Periodic Syndrome 34 0.019
1037
NNT007 Neonatal Leukemia 34 0.019
1038
46X012 46,xy Partial Gonadal Dysgenesis 34 0.019
1039
ACT177 Acute Basophilic Leukemia 34 0.019
1040
SPT006 Septooptic Dysplasia 34 0.019
1041
FLL029 Fallopian Tube Disease 34 0.019
1042
PDT021 Pediatric Osteosarcoma 34 0.019
1043
FRN014 Fournier Gangrene 34 0.019
1044
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 34 0.019
1045