Search results for corpus callosum

1132 hits were found for corpus callosum

# Family MCID Name MIFTS Score
1
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 44 10.300
2
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 26 6.331
3
VCS001 Vici Syndrome 46 5.492
4
CRP010 Corpus Callosum Agenesis 37 5.232
5
PRD011 Proud Syndrome 36 5.191
6
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38 4.844
7
MSS001 Masa Syndrome 53 4.532
8
CRP025 Corpus Callosum, Partial Agenesis of 29 4.506
9
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 24 4.484
10
TMT003 Temtamy Syndrome 29 4.145
11
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 24 4.138
12
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 18 4.110
13
c SPS092 Spastic Paraplegia 11 25 4.066
14
ACR012 Aicardi Syndrome 49 3.743
15
CRP003 Corpus Callosum Lipoma 15 3.710
16
CRP011 Corpus Callosum Agenesis Double Urinary Collecting 15 3.681
17
XLN220 X-Linked Complicated Corpus Callosum Agenesis 12 3.652
18
ACR008 Acrocallosal Syndrome 55 3.279
19
DNN002 Donnai-Barrow Syndrome 38 3.261
20
WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 17 3.247
21
CHD004 Chudley-Mccullough Syndrome 32 3.225
22
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 19 3.225
23
XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 11 3.217
24
ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 17 3.200
25
CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 21 3.171
26
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 28 2.643
27
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 13 2.633
28
CRR015 Curry-Jones Syndrome, Somatic Mosaic 28 2.624
29
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 29 2.613
30
CMB013 Combined Oxidative Phosphorylation Deficiency 2 22 2.602
31
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 33 2.589
32
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 31 2.589
33
P FCL005 Focal Segmental Glomerulosclerosis 60 2.575
34
SHP003 Shapiro Syndrome 30 1.916
35
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 17 1.897
36
c LSS012 Lissencephaly, X-Linked 2 27 1.886
37
MRR014 Mirror Movements 1 and/or Agenesis of the Corpus Callosum 27 1.875
38
P LSS027 Lissencephaly, X-Linked 42 1.862
39
c MCR217 Microphthalmia, Syndromic 11 23 1.862
40
c MNT213 Mental Retardation, Autosomal Recessive 40 22 1.862
41
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.862
42
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 5 1.862
43
CRP024 Corpus Callosum Oligodendroglioma 4 1.862
44
BND006 Bone Dysplasia Corpus Callosum Agenesis 3 1.862
45
STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 2 1.862
46
FCL018 Facial Clefting Corpus Callosum Agenesis 2 1.862
47
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 2 1.862
48
PLY047 Polysyndactyly Trigonocephaly Agenesis of Corpus Callosum 2 1.862
49
CRP012 Corpus Callosum Agenesis of Blepharophimosis Robin Type 2 1.856
50
CRP013 Corpus Callosum Dysgenesis Cleft Spasm 2 1.856
51
CRP014 Corpus Callosum Dysgenesis Hypopituitarism 2 1.856
52
CRP015 Corpus Callosum Dysgenesis X-Linked Recessive 2 1.856
53
c MNT245 Mental Retardation, Autosomal Dominant 36 20 1.848
54
MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 8 1.848
55
PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5 1.848
56
SPG001 Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 3 1.848
57
THR039 Thrombocytopenia Robin Sequence 11 1.831
58
BNR003 Ben Ari Shuper Mimouni Syndrome 4 1.831
59
PLR009 Pol Iii-Related Leukodystrophies 38 1.809
60
CLL019 Calloso-Genital Dysplasia 5 1.809
61
SKD001 Sakoda Complex 4 1.809
62
SLB001 Saal Bulas Syndrome 4 1.809
63
DKR001 Duker Weiss Siber Syndrome 3 1.809
64
KZL003 Kozlowski Ouvrier Syndrome 3 1.809
65
SPS057 Spasticity 42 0.232
66
PRP016 Paraplegia 48 0.199
67
c HRD010 Hereditary Spastic Paraplegia 66 0.182
68
P MCR010 Microcephaly 58 0.147
69
P INT063 Intellectual Disability 58 0.117
70
P EPL164 Epilepsy 65 0.107
71
PLY024 Polymicrogyria 36 0.100
72
P LSS002 Lissencephaly 48 0.097
73
MRC001 Marchiafava Bignami Disease 21 0.097
74
CRB009 Cerebritis 39 0.093
75
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.089
76
P HYD006 Hydrocephalus 66 0.086
77
P TRC086 Trichohepatoenteric Syndrome 1 51 0.085
78
P MWT001 Mowat-Wilson Syndrome 48 0.085
79
NRN002 Neuronitis 39 0.082
80
P NRP001 Neuropathy 57 0.081
81
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33 0.080
82
P HLP001 Holoprosencephaly 65 0.076
83
P SCH018 Schizencephaly 52 0.076
84
P CFF008 Coffin-Siris Syndrome 1 51 0.076
85
CLF001 Cleft Lip 49 0.076
86
DND001 Dandy-Walker Syndrome 44 0.076
87
P MCR241 Microphthalmia, Syndromic 3 34 0.076
88
SPS019 Spastic Paraparesis 34 0.076
89
OCL034 Oculocerebrocutaneous Syndrome 30 0.076
90
CLP002 Colpocephaly 15 0.076
91
END072 Endotheliitis 41 0.074
92
P SCH015 Schizophrenia 71 0.073
93
P ENC008 Encephalocele 48 0.073
94
CLB001 Coloboma 54 0.071
95
c WRB002 Warburg Micro Syndrome 1 41 0.071
96
LNN001 Lennox-Gastaut Syndrome 57 0.070
97
RLP002 Relapsing-Remitting Multiple Sclerosis 54 0.070
98
P MNN013 Meningitis 65 0.068
99
PTR032 Peters-Plus Syndrome 59 0.066
100
SPT006 Septooptic Dysplasia 48 0.066
101
BHR002 Bohring-Opitz Syndrome 39 0.066
102
P HYP265 Hypotonia 39 0.066
103
P FRN036 Frontonasal Dysplasia 1 33 0.066
104
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 27 0.066
105
P MNT158 Mental Retardation, Autosomal Dominant 22 26 0.066
106
LSS026 Lissencephaly 6, with Microcephaly 19 0.066
107
ARC002 Arachnoiditis 41 0.062
108
ARC007 Arachnoid Cysts 38 0.062
109
ALR002 Al-Raqad Syndrome 29 0.062
110
AND005 Androgen Insensitivity Syndrome, Mild 16 0.062
111
APR006 Apert Syndrome 68 0.060
112
MGL013 Megalencephaly 53 0.060
113
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.060
114
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47 0.060
115
CHR222 Chromosome 1p36 Deletion Syndrome 46 0.060
116
HPT074 Hepatic Adenoma, Somatic 44 0.060
117
GNT031 Genitopatellar Syndrome 43 0.060
118
FRY002 Fryns Syndrome 40 0.060
119
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 0.060
120
ACR041 Acromelic Frontonasal Dysostosis 37 0.060
121
DSM002 Desmosterolosis 33 0.060
122
ALG027 Al-Gazali-Bakalinova Syndrome 29 0.060
123
CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 28 0.060
124
c LSS009 Lissencephaly 3 25 0.060
125
BRN127 Brain Malformations and Urinary Tract Defects 24 0.060
126
CRN266 Craniofacial Dyssynostosis with Short Stature 17 0.060
127
P ENC018 Encephalopathy 52 0.056
128
P NRV007 Nervous System Disease 70 0.054
129
SMT004 Smith-Lemli-Opitz Syndrome 69 0.054
130
OBS002 Obsessive-Compulsive Disorder 64 0.054
131
MCR013 Microphthalmia 59 0.054
132
CFF002 Coffin-Lowry Syndrome 58 0.054
133
P CTR002 Cataract 57 0.054
134
FCL009 Focal Dermal Hypoplasia 56 0.054
135
P MCK022 Meckel Syndrome 1 54 0.054
136
P PLY006 Polydactyly 54 0.054
137
P STS008 Sotos Syndrome 1 54 0.054
138
HMF006 Hemifacial Microsomia 54 0.054
139
P GLY010 Glycine Encephalopathy 53 0.054
140
P LTR001 Lateral Sclerosis 53 0.054
141
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 52 0.054
142
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51 0.054
143
WLF002 Wolf-Hirschhorn Syndrome 50 0.054
144
CRB045 Cerebellar Hypoplasia 50 0.054
145
c ORF037 Orofaciodigital Syndrome I 48 0.054
146
MLL018 Miller-Dieker Lissencephaly Syndrome 48 0.054
147
AGN012 Agnathia-Otocephaly Complex 48 0.054
148
SKN023 Skin Tag 46 0.054
149
CRN248 Craniofrontonasal Dysplasia 46 0.054
150
ALB002 Albinism 45 0.054
151
BRT030 Birth Defects 44 0.054
152
HRT030 Hartsfield Syndrome 43 0.054
153
ENC010 Encephalocraniocutaneous Lipomatosis 42 0.054
154
EMN001 Emanuel Syndrome 41 0.054
155
NLX004 Neu-Laxova Syndrome 1 40 0.054
156
FMR004 Fumarase Deficiency 40 0.054
157
c LSS005 Lissencephaly 1 40 0.054
158
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 39 0.054
159
CHR492 Chromosome 13q14 Deletion Syndrome 38 0.054
160
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38 0.054
161
PCH002 Pachygyria 37 0.054
162
CHR078 Chorioretinitis 37 0.054
163
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36 0.054
164
c WRB005 Warburg Micro Syndrome 4 36 0.054
165
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36 0.054
166
BLP004 Blepharophimosis 36 0.054
167
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34 0.054
168
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34 0.054
169
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.054
170
SDD003 Saddan 32 0.054
171
GLD002 Goldberg-Shprintzen Megacolon Syndrome 32 0.054
172
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 31 0.054
173
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30 0.054
174
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29 0.054
175
PSD046 Pseudotrisomy 13 Syndrome 27 0.054
176
CMB026 Combined Oxidative Phosphorylation Deficiency 12 27 0.054
177
MCR257 Microcephaly, Amish Type 27 0.054
178
HNM002 Hinman Syndrome 27 0.054
179
c PNT032 Pontocerebellar Hypoplasia, Type 9 26 0.054
180
c FRN033 Frontonasal Dysplasia 2 26 0.054
181
c PNT030 Pontocerebellar Hypoplasia, Type 8 25 0.054
182
c WRB004 Warburg Micro Syndrome 3 25 0.054
183
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24 0.054
184
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24 0.054
185
c PNT035 Pontocerebellar Hypoplasia, Type 1c 23 0.054
186
c MNT296 Mental Retardation, X-Linked, Syndromic 34 22 0.054
187
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 22 0.054
188
c FRN037 Frontal Encephalocele 21 0.054
189
CHR483 Chromosome 3q13.31 Deletion Syndrome 21 0.054
190
CRN104 Craniotelencephalic Dysplasia 20 0.054
191
GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19 0.054
192
LSS034 Lissencephaly Type Iii and Bone Dysplasia 17 0.054
193
CYT008 Cytomegalovirus Infection 51 0.052
194
CHL078 Childhood-Onset Schizophrenia 31 0.049
195
SRC014 Sarcoma 66 0.049
196
P ANR002 Aniridia 66 0.046
197
P NRM001 Neuromyelitis Optica 61 0.046
198
c JBR020 Joubert Syndrome 1 61 0.046
199
ADR016 Adrenal Cortical Carcinoma 60 0.046
200
DBF001 D-Bifunctional Protein Deficiency 57 0.046
201
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 56 0.046
202
CHN016 Cohen Syndrome 54 0.046
203
CRB037 Cerebral Palsy 54 0.046
204
P ATX004 Ataxia 52 0.046
205
QDR001 Quadriplegia 51 0.046
206
c LPM012 Lipomatosis, Multiple 50 0.046
207
P MGR003 Migraine with Aura 49 0.046
208
SNG010 Single Median Maxillary Central Incisor 45 0.046
209
CLF004 Cleft Lip/palate 45 0.046
210
P MRD002 Marden-Walker Syndrome 43 0.046
211
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42 0.046
212
MST006 Mast Syndrome 42 0.046
213
c CNG031 Congenital Nervous System Abnormality 39 0.046
214
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 39 0.046
215
c HLP023 Holoprosencephaly 1 38 0.046
216
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38 0.046
217
TTR016 Tetra-Amelia Syndrome 38 0.046
218
SPS004 Spastic Quadriplegia 37 0.046
219
PTC002 Potocki-Lupski Syndrome 36 0.046
220
OPT054 Opitz-Kaveggia Syndrome 35 0.046
221
c BRT038 Baraitser-Winter Syndrome 1 32 0.046
222
c MCR251 Microphthalmia, Syndromic 6 31 0.046
223
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31 0.046
224
c PNT037 Pontocerebellar Hypoplasia, Type 3 30 0.046
225
MCR025 Microhydranencephaly 30 0.046
226
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 29 0.046
227
c CRN256 Craniosynostosis 6 29 0.046
228
c MCR252 Microphthalmia, Syndromic 5 29 0.046
229
FCL064 Facial Dysmorphism with Multiple Malformations 27 0.046
230
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 26 0.046
231
HRT037 Heart and Brain Malformation Syndrome 26 0.046
232
c FBR049 Fibrosis of Extraocular Muscles, Congenital, 3a 26 0.046
233
c MNT248 Mental Retardation, X-Linked 102 25 0.046
234
P TRS029 Trisomy 1q 25 0.046
235
HYP717 Hypotonia, Infantile, with Psychomotor Retardation 24 0.046
236
CHR487 Chromosome 8q21.11 Deletion Syndrome 23 0.046
237
c WRB003 Warburg Micro Syndrome 2 23 0.046
238
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 22 0.046
239
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 0.046
240
c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22 0.046
241
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 22 0.046
242
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 21 0.046
243
CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 21 0.046
244
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21 0.046
245
c LKD023 Leukodystrophy, Hypomyelinating, 12 20 0.046
246
XGB001 Xia-Gibbs Syndrome 19 0.046
247
c LSS035 Lissencephaly 8 17 0.046
248
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 17 0.046
249
FXG001 Foxg1 Syndrome 15 0.046
250
NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 15 0.046
251
MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 14 0.046
252
ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 13 0.046
253
AGN009 Agenesis and Aplasia of Uterine Body 6 0.046
254
P TRT010 Teratoma 51 0.045
255
HRS011 Horseshoe Kidney 33 0.044
256
P CRD013 Cardiofaciocutaneous Syndrome 65 0.041
257
P MCL013 Mucolipidosis Iv 64 0.041
258
STT001 Status Epilepticus 58 0.041
259
ALP001 Alopecia Universalis 57 0.041
260
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 55 0.041
261
NRT004 Neuritis 51 0.041
262
PRV004 Periventricular Leukomalacia 48 0.041
263
LKM006 Leukomalacia 42 0.041
264
NRN016 Neuronal Migration Disorders 42 0.041
265
ART008 Arteriosclerosis Obliterans 42 0.041
266
WLL004 Wallerian Degeneration 36 0.041
267
PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 28 0.041
268
P LYM118 Lymphoma 69 0.040
269
P THY032 Thyroiditis 53 0.040
270
P ART022 Arthritis 72 0.038
271
ACR007 Acromegaly 66 0.038
272
ALX003 Alexander Disease 65 0.038
273
P THR014 Thrombocytopenia 63 0.038
274
P OST001 Osteopetrosis 63 0.038
275
GST092 Gastroesophageal Reflux 62 0.038
276
P PRS038 Personality Disorder 61 0.038
277
P HYP086 Hypothyroidism 60 0.038
278
CHL071 Child Syndrome 59 0.038
279
MSM014 Mismatch Repair Cancer Syndrome 59 0.038
280
KDS001 Kid Syndrome 57 0.038
281
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 0.038
282
CCH002 Coach Syndrome 56 0.038
283
P OLG002 Oligodendroglioma 55 0.038
284
SMT008 Smith-Magenis Syndrome 55 0.038
285
c TBR024 Tuberous Sclerosis-1 55 0.038
286
P TWN003 Townes-Brocks Syndrome 54 0.038
287
CND002 Conduct Disorder 53 0.038
288
P TRM003 Tremor 53 0.038
289
DMY004 Demyelinating Disease 53 0.038
290
CSY001 C Syndrome 53 0.038
291
P HYD011 Hydrolethalus Syndrome 53 0.038
292
ECT006 Ectodermal Dysplasia 52 0.038
293
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 52 0.038
294
P SPS003 Spastic Diplegia 52 0.038
295
P LFT003 Left Ventricular Noncompaction 52 0.038
296
PHL006 Phelan-Mcdermid Syndrome 51 0.038
297
P PTT014 Pitt-Hopkins Syndrome 51 0.038
298
BLL001 Baller-Gerold Syndrome 51 0.038
299
BRN071 Brain Injury 50 0.038
300
JCB001 Jacobsen Syndrome 50 0.038
301
EXP004 Exophthalmos 50 0.038
302
MYL020 Myelomeningocele 50 0.038
303
PRL032 Perlman Syndrome 50 0.038
304
c VRL012 Viral Meningitis 49 0.038
305
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 49 0.038
306
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49 0.038
307
HYP077 Hypertrichosis 48 0.038
308
OST022 Osteopathia Striata with Cranial Sclerosis 47 0.038
309
NSH001 Nasu-Hakola Disease 47 0.038
310
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 0.038
311
TBR011 Tuberculous Meningitis 46 0.038
312
YNS002 Yunis-Varon Syndrome 45 0.038
313
GLL032 Galloway-Mowat Syndrome 45 0.038
314
BNN003 Bone Inflammation Disease 45 0.038
315
c HLP024 Holoprosencephaly 2 45 0.038
316
DBW001 Dubowitz Syndrome 44 0.038
317
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44 0.038
318
c L2H001 L-2-Hydroxyglutaric Aciduria 44 0.038
319
HDN002 Head Injury 44 0.038
320
P MSC022 Mosaic Variegated Aneuploidy Syndrome 44 0.038
321
c ORF040 Orofaciodigital Syndrome Viii 43 0.038
322
c LKD015 Leukodystrophy, Hypomyelinating, 3 43 0.038
323
DXT001 Dextrocardia 43 0.038
324
SPS007 Spastic Cerebral Palsy 43 0.038
325
OCL001 Ocular Albinism 43 0.038
326
c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 42 0.038
327
c PSD106 Pseudo-Torch Syndrome 1 42 0.038
328
MNN032 Meningococcal Meningitis 42 0.038
329
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.038
330
CRN025 Corneal Dystrophy 41 0.038
331
CRT015 Carotid Artery Occlusion 41 0.038
332
TRP014 Triploidy 41 0.038
333
MRS004 Marshall-Smith Syndrome 41 0.038
334
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 41 0.038
335
LCK001 Locked-in Syndrome 40 0.038
336
P ORF002 Orofacial Cleft 40 0.038
337
NRL004 Neuroleptic Malignant Syndrome 40 0.038
338
c CHR579 Chiari Malformation Type Ii 40 0.038
339
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40 0.038
340
ATS010 Autosomal Recessive Disease 39 0.038
341
KRT008 Keratopathy 39 0.038
342
DLS001 Delusional Disorder 39 0.038
343
P KLN006 Koolen-De Vries Syndrome 39 0.038
344
c CRB101 Cerebrooculofacioskeletal Syndrome 1 39 0.038
345
TRN012 Transient Global Amnesia 39 0.038
346
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38 0.038
347
c MCR261 Microphthalmia, Syndromic 2 38 0.038
348
P CHR342 Chiari Malformation 38 0.038
349
c SPN097 Spinocerebellar Ataxia 23 38 0.038
350
BHR001 Behr Syndrome 38 0.038
351
c MCR263 Microphthalmia, Syndromic 1 37 0.038
352
c OPT050 Opitz Gbbb Syndrome, Type Ii 37 0.038
353
CDS002 Codas Syndrome 37 0.038
354
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36 0.038
355
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 36 0.038
356
P BND018 Band Heterotopia 36 0.038
357
INF129 Infantile Cerebellar-Retinal Degeneration 36 0.038
358
P DYS005 Dyslexia 36 0.038
359
c PNT029 Pontocerebellar Hypoplasia Type 2d 36 0.038
360
NPH004 Nephropathia Epidemica 36 0.038
361
c PNT034 Pontocerebellar Hypoplasia, Type 2e 36 0.038
362
PRM056 Primrose Syndrome 36 0.038
363
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35 0.038
364
JBR006 Joubert Syndrome with Oculorenal Anomalies 35 0.038
365
VNM003 Van Maldergem Syndrome 1 35 0.038
366
JBR005 Joubert Syndrome with Ocular Anomalies 35 0.038
367
c JBR004 Joubert Syndrome 2 35 0.038
368
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35 0.038
369
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35 0.038
370
TRP006 Tarp Syndrome 34 0.038
371
LJN003 Lujan-Fryns Syndrome 34 0.038
372
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34 0.038
373
LBR025 Lobar Holoprosencephaly 34 0.038
374
c RNG008 Ring Chromosome 13 34 0.038
375
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.038
376
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 33 0.038
377
CNG069 Congenital Cytomegalovirus 33 0.038
378
PHC004 Phace Syndrome 33 0.038
379
LRN006 Laurin-Sandrow Syndrome 33 0.038
380
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 33 0.038
381
P WRB001 Warburg Micro Syndrome 33 0.038
382
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33 0.038
383
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 33 0.038
384
MLY006 Molybdenum Cofactor Deficiency a 33 0.038
385
CHR518 Chromosome 9p Deletion Syndrome 32 0.038
386
c OPT051 Opitz Gbbb Syndrome, Type I 32 0.038
387
c RBN021 Rubinstein-Taybi Syndrome 1 32 0.038
388
AYM001 Ayme-Gripp Syndrome 32 0.038
389
c HLP027 Holoprosencephaly 7 32 0.038
390
KR001 Koro 32 0.038
391
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32 0.038
392
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 32 0.038
393
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31 0.038
394
ENT001 Enterocele 31 0.038
395
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31 0.038
396
JBR007 Joubert Syndrome with Renal Anomalies 31 0.038
397
END059 Endocrine-Cerebroosteodysplasia 31 0.038
398
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 30 0.038
399
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30 0.038
400
MCR064 Microcephaly, Seizures, and Developmental Delay 30 0.038
401
CPT005 Cpt Ii Deficiency, Lethal Neonatal 30 0.038
402
ASP024 Asparagine Synthetase Deficiency 30 0.038
403
FMR018 Femoral-Facial Syndrome 30 0.038
404
MSC020 Mosaic Trisomy 8 30 0.038
405
c ADM005 Adams-Oliver Syndrome 1 30 0.038
406
CHR387 Chromosome Xp21 Deletion Syndrome 30 0.038
407
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30 0.038
408
LCT005 Lacticacidemia Due to Pdx1 Deficiency 30 0.038
409
MCR183 Microcephaly-Capillary Malformation Syndrome 30 0.038
410
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29 0.038
411
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29 0.038
412
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 29 0.038
413
c LSS010 Lissencephaly 4 29 0.038
414
49X002 49,xxxxy Syndrome 29 0.038
415
GBT001 Gaba-Transaminase Deficiency 29 0.038
416
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29 0.038
417
c MNT198 Mental Retardation, X-Linked 98 29 0.038
418
CMB012 Combined Oxidative Phosphorylation Deficiency 1 29 0.038
419
c RTT008 Rett Syndrome, Congenital Variant 28 0.038
420
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28 0.038
421
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 28 0.038
422
c CNG416 Congenital Disorder of Glycosylation, Type Iy 28 0.038
423
c CNG389 Congenital Disorder of Glycosylation, Type Iim 28 0.038
424
MTC088 Mitochondrial Dna Depletion Syndrome 13 28 0.038
425
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28 0.038
426
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27 0.038
427
SWY001 Swayback 27 0.038
428
STR046 Stargardt Macular Degeneration 27 0.038
429
PNT009 Pontine Tegmental Cap Dysplasia 27 0.038
430
c HLP016 Holoprosencephaly 11 27 0.038
431
CMB009 Combined Sap Deficiency 27 0.038
432
FRN022 Frontofacionasal Dysplasia 27 0.038
433
c CNG190 Congenital Disorder of Glycosylation, Type Iib 27 0.038
434
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 27 0.038
435
c JBR031 Joubert Syndrome 21 26 0.038
436
P SYN064 Syndromic X-Linked Intellectual Disability 26 0.038
437
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26 0.038
438
c PNT033 Pontocerebellar Hypoplasia, Type 10 26 0.038
439
c PNT020 Pontocerebellar Hypoplasia Type 2b 26 0.038
440
BND001 Band Keratopathy 26 0.038
441
CHR366 Chromosome 5p13 Duplication Syndrome 26 0.038
442
c CNG201 Congenital Disorder of Glycosylation, Type Iij 26 0.038
443
IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 25 0.038
444
CHR225 Chromosome 1q21.1 Duplication Syndrome 25 0.038
445
c MNT143 Mental Retardation, Autosomal Dominant 13 25 0.038
446
WTT002 Witteveen-Kolk Syndrome 25 0.038
447
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25 0.038
448
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25 0.038
449
CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 25 0.038
450
HRL006 Harel-Yoon Syndrome 25 0.038
451
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25 0.038
452
GLT011 Glutamine Deficiency, Congenital 25 0.038
453
PLY110 Polymicrogyria, Bilateral Temporooccipital 24 0.038
454
c ORF036 Orofaciodigital Syndrome Xiv 24 0.038
455
c MNT295 Mental Retardation, X-Linked, Syndromic 33 24 0.038
456
c ORF033 Orofaciodigital Syndrome V 24 0.038
457
CHR399 Chromosome 4q21 Deletion Syndrome 24 0.038
458
MLY005 Molybdenum Cofactor Deficiency B 24 0.038
459
c BRT039 Baraitser-Winter Syndrome 2 24 0.038
460
PRV007 Periventricular Heterotopia with Microcephaly 24 0.038
461
MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24 0.038
462
c CFF007 Coffin-Siris Syndrome 2 24 0.038
463
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24 0.038
464
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24 0.038
465
c SPS135 Spastic Paraplegia 63 24 0.038
466
CMB046 Combined Oxidative Phosphorylation Deficiency 11 24 0.038
467
c MCR314 Microcephaly 16, Primary, Autosomal Recessive 23 0.038
468
16Q001 16q24.3 Microdeletion Syndrome 23 0.038
469
c PNT039 Pontocerebellar Hypoplasia, Type 7 23 0.038
470
c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 23 0.038
471
c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23 0.038
472
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 23 0.038
473
3HY001 3-Hydroxyisobutyric Aciduria 23 0.038
474
c MCK026 Meckel Syndrome 12 23 0.038
475
CMB064 Combined Oxidative Phosphorylation Deficiency 24 23 0.038
476
c JBR042 Joubert Syndrome 23 23 0.038
477
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 23 0.038
478
CMB016 Combined Oxidative Phosphorylation Deficiency 5 23 0.038
479
CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23 0.038
480
VNM002 Van Maldergem Syndrome 2 23 0.038
481
MCR325 Microcephaly, Short Stature, and Polymicrogyria with Seizures 23 0.038
482
P SYM025 Symmetric Circumferential Skin Creases, Congenital, 1 23 0.038
483
c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23 0.038
484
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22 0.038
485
MNT014 Mental Retardation Epilepsy 22 0.038
486
BRK011 Brooks-Wisniewski-Brown Syndrome 22 0.038
487
SCH037 Schinzel-Giedion Midface Retraction Syndrome 22 0.038
488
LVY002 Levy-Shanske Syndrome 22 0.038
489
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22 0.038
490
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22 0.038
491
c MNT159 Mental Retardation, Autosomal Dominant 19 22 0.038
492
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 22 0.038
493
EVN003 Even-Plus Syndrome 22 0.038
494
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21 0.038
495
MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 21 0.038
496
c CFF006 Coffin-Siris Syndrome 5 21 0.038
497
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 21 0.038
498
c LKD016 Leukodystrophy, Hypomyelinating, 9 21 0.038
499
TTR019 Tetrasomy 5p 21 0.038
500
P ALP068 Alopecia-Intellectual Disability Syndrome 21 0.038
501
CMB048 Combined Oxidative Phosphorylation Deficiency 15 21 0.038
502
c LKD021 Leukodystrophy, Hypomyelinating, 11 21 0.038
503
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 21 0.038
504
c HYD040 Hydrolethalus Syndrome 2 21 0.038
505
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 21 0.038
506
DPL009 Duplication of the Pituitary Gland 21 0.038
507
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21 0.038
508
CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21 0.038
509
c LKD020 Leukodystrophy, Hypomyelinating, 10 20 0.038
510
PRX085 Preaxial Hallucal Polydactyly 20 0.038
511
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 20 0.038
512
WBB001 Webb-Dattani Syndrome 20 0.038
513
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20 0.038
514
c MNT270 Mental Retardation, Autosomal Recessive 53 20 0.038
515
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 20 0.038
516
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 20 0.038
517
SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 20 0.038
518
HLZ001 Holzgreve Syndrome 20 0.038
519
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 19 0.038
520
6QT002 6q Terminal Deletion Syndrome 19 0.038
521
c ORF045 Orofaciodigital Syndrome Xv 19 0.038
522
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19 0.038
523
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 0.038
524
MNT256 Mental Retardation, Buenos Aires Type 19 0.038
525
CRN083 Craniofacial Dyssynostosis 18 0.038
526
HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 18 0.038
527
1Q4001 1q44 Microdeletion Syndrome 18 0.038
528
CRN076 Crane-Heise Syndrome 18 0.038
529
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 18 0.038
530
MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 18 0.038
531
SZR021 Seizures, Cortical Blindness, Microcephaly Syndrome 17 0.038
532
DST044 Distal Trisomy 14q 17 0.038
533
HDZ001 Hadziselimovic Syndrome 17 0.038
534
MCR310 Microgastria-Limb Reduction Defects Association 17 0.038
535
11Q001 11q22.2q22.3 Microdeletion Syndrome 17 0.038
536
19P001 19p13.12 Microdeletion Syndrome 17 0.038
537
NRD029 Neurodevelopmental Disorder with Involuntary Movements 17 0.038
538
8PN001 8p Inverted Duplication/deletion Syndrome 16 0.038
539
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16 0.038
540
NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 16 0.038
541
MYC060 Mycophenolate Mofetil Embryopathy 16 0.038
542
CMB051 Combined Oxidative Phosphorylation Deficiency 21 16 0.038
543
14Q001 14q12 Microdeletion Syndrome 16 0.038
544
AMN013 Aminopterin/methotrexate Embryofetopathy 16 0.038
545
16P003 16p13.11 Microdeletion Syndrome 16 0.038
546
MNS013 Monosomy 13q34 16 0.038
547
CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 15 0.038
548
INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15 0.038
549
TYS007 Tyshchenko Syndrome 15 0.038
550
INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15 0.038
551
ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 15 0.038
552
CRB164 Cerebrooculonasal Syndrome 15 0.038
553
LNR012 Linear Verrucous Nevus Syndrome 15 0.038
554
20Q001 20q13.33 Microdeletion Syndrome 15 0.038
555
P MTR057 Maternal Uniparental Disomy of Chromosome X 15 0.038
556
ABS003 Absence of Septum Pellucidum 14 0.038
557
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 14 0.038
558
MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 14 0.038
559
CNS012 Cono-Spondylar Dysplasia 14 0.038
560
INF053 Infantile Spasms Broad Thumbs 13 0.038
561
STR095 Structural Heart Defects and Renal Anomalies Syndrome 13 0.038
562
NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 13 0.038
563
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 13 0.038
564
ZTT001 Zttk Syndrome 13 0.038
565
XQ1001 Xq12-Q13.3 Duplication Syndrome 13 0.038
566
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 10 0.038
567
XQ2003 Xq25 Duplication Syndrome 9 0.038
568
MCR275 Microcephaly with Polymicrogyria 7 0.038
569
P ENC004 Encephalitis 61 0.038
570
APP008 Appendicitis 59 0.038
571
ADN018 Adenoma 58 0.038
572
MTR010 Mature Teratoma 42 0.038
573
OTT002 Otitis Media 65 0.035
574
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63 0.035
575
RSP006 Respiratory System Disease 60 0.035
576
WST001 West Syndrome 58 0.035
577
ART021 Arteriosclerosis 57 0.035
578
P DBT005 Diabetes Insipidus 52 0.035
579
NCR007 Necrotizing Fasciitis 45 0.035
580
DRM013 Dermoid Cyst 44 0.035
581
c PLY146 Polycystic Liver Disease 1 42 0.035
582
P NRF018 Neurofibromatosis, Type 1 78 0.031
583
PCK002 Pick Disease 68 0.031
584
P TBR001 Tuberous Sclerosis 67 0.031
585
CHG001 Chagas Disease 66 0.031
586
P NMN002 Niemann-Pick Disease 66 0.031
587
LSH001 Leishmaniasis 66 0.031
588
VSC007 Vascular Disease 65 0.031
589
MLD001 Melioidosis 65 0.031
590
P CNJ013 Conjunctivitis 63 0.031
591
P INF037 Inflammatory Bowel Disease 62 0.031
592
BRC012 Brucellosis 61 0.031
593
P SRC025 Sarcoidosis 1 61 0.031
594
TYP007 Typhoid Fever 61 0.031
595
GNG013 Gingivitis 61 0.031
596
HPY002 H. Pylori Infection 60 0.031
597
P TXP001 Toxoplasmosis 60 0.031
598
c CNT035 Central Nervous System Disease 60 0.031
599
ACQ007 Acquired Immunodeficiency Syndrome 60 0.031
600
P ANR007 Anorexia Nervosa 60 0.031
601
ADL030 Adult-Onset Still's Disease 60 0.031
602
SCR008 Scrub Typhus 59 0.031
603
CNT047 Contact Dermatitis 59 0.031
604
P HMN010 Hemangioma 59 0.031
605
KRT001 Keratoconjunctivitis Sicca 59 0.031
606
FTT001 Fatty Liver Disease 59 0.031
607
OST017 Osteomyelitis 58 0.031
608
APH001 Aphthous Stomatitis 58 0.031
609
CHL123 Chlamydia 58 0.031
610
GST045 Gastroenteritis 57 0.031
611
P UVT001 Uveitis 57 0.031
612
LYM021 Lymphadenitis 57 0.031
613
LPT001 Leptospirosis 57 0.031
614
TNS005 Tonsillitis 56 0.031
615
FCL014 Focal Epilepsy 55 0.031
616
TXC005 Toxic Shock Syndrome 55 0.031
617
PRS047 Prostatitis 55 0.031
618
P ANT006 Antiphospholipid Syndrome 54 0.031
619
P HYP083 Hypopituitarism 54 0.031
620
FLR002 Filariasis 54 0.031
621
PLM012 Pulmonary Sarcoidosis 53 0.031
622
c SVR001 Severe Acute Respiratory Syndrome 53 0.031
623
P HMR012 Hemorrhagic Fever 52 0.031
624
EXT034 Extrinsic Allergic Alveolitis 52 0.031
625
P BRN009 Burning Mouth Syndrome 52 0.031
626
PLS006 Plasmodium Vivax Malaria 52 0.031
627
BRN002 Bronchiolitis 52 0.031
628
P PYL005 Pyelonephritis 52 0.031
629
c INT064 Intermediate Uveitis 51 0.031
630
MYC002 Mycobacterium Avium Complex Disease 51 0.031
631
CRH005 Crohn's Colitis 50 0.031
632
CRT049 Critical Limb Ischemia 50 0.031
633
TRY001 Trypanosomiasis 50 0.031
634
c MLG054 Malignant Histiocytosis 50 0.031
635
ASP003 Aseptic Meningitis 50 0.031
636
TMP001 Temporal Lobe Epilepsy 50 0.031
637
P AGG001 Aggressive Periodontitis 49 0.031
638
SPT005 Spotted Fever 49 0.031
639
PST095 Post-Thrombotic Syndrome 48 0.031
640
CCN001 Cocaine Dependence 48 0.031
641
STR072 Stromal Keratitis 47 0.031
642
INT054 Intraocular Lymphoma 47 0.031
643
IDP064 Idiopathic Neutropenia 46 0.031
644
MCR191 Microscopic Colitis 46 0.031
645
DBT006 Diabetic Macular Edema 46 0.031
646
ELS001 Eales Disease 46 0.031
647
c SCN036 Secondary Progressive Multiple Sclerosis 46 0.031
648
PLR001 Pleural Tuberculosis 46 0.031
649
PRN019 Perinatal Necrotizing Enterocolitis 45 0.031
650
c INH020 Inherited Metabolic Disorder 45 0.031
651
HMN014 Human Immunodeficiency Virus Infectious Disease 45 0.031
652
PLP001 Pulpitis 44 0.031
653
HMM003 Hemimegalencephaly 44 0.031
654
FSC004 Fasciitis 44 0.031
655
EXT033 Extrapulmonary Tuberculosis 43 0.031
656
THR024 Thrombosis 43 0.031
657
P PRL003 Proliferative Glomerulonephritis 43 0.031
658
HYP085 Hypothalamic Disease 42 0.031
659
c CHR431 Chronic Venous Insufficiency 42 0.031
660
P RSM001 Rasmussen Encephalitis 42 0.031
661
MCL006 Macular Retinal Edema 42 0.031
662
STT002 Status Asthmaticus 42 0.031
663
STP004 Staphylococcal Toxic Shock Syndrome 42 0.031
664
BRN014 Bronchopneumonia 40 0.031
665
CRT046 Corticosteroid-Binding Globulin Deficiency 39 0.031
666
STR077 Streptococcal Toxic-Shock Syndrome 39 0.031
667
URM005 Uremic Pruritus 38 0.031
668
DNT008 Denture Stomatitis 38 0.031
669
EXT035 Extrinsic Cardiomyopathy 37 0.031
670
ORF044 Orofacial Granulomatosis 37 0.031
671
DNT014 Dental Pulp Disease 36 0.031
672
FNS001 Funisitis 36 0.031
673
c PRX059 Peroxisome Biogenesis Disorder 1a 36 0.031
674
MLN003 Melancholia 35 0.031
675
OST008 Osteosclerotic Myeloma 35 0.031
676
RCR001 Recurrent Corneal Erosion 35 0.031
677
MLT002 Multiple Symmetrical Lipomatosis 34 0.031
678
VRS001 Virus Associated Hemophagocytic Syndrome 34 0.031
679
BGS001 Bagassosis 34 0.031
680
OBS004 Obstructive Hydrocephalus 33 0.031
681
c ACT079 Acute Proliferative Glomerulonephritis 32 0.031
682
CMM006 Commensal Bacterial Infectious Disease 30 0.031
683
P CLR023 Colorectal Cancer 95 0.027
684
P RHM011 Rheumatoid Arthritis 87 0.027
685
P OST012 Osteoarthritis 79 0.027
686
NRL016 Neural Tube Defects 76 0.027
687
P HNT016 Huntington Disease 76 0.027
688
WLS001 Wilson Disease 73 0.027
689
P HMC003 Hemochromatosis 72 0.027
690
PHN003 Phenylketonuria 72 0.027
691
P INF038 Influenza 71 0.027
692
FBR012 Fabry Disease 71 0.027
693
KRT004 Keratitis 70 0.027
694
TTR001 Tetralogy of Fallot 69 0.027
695
P CRB042 Cerebellar Ataxia 69 0.027
696
P NJM001 Nijmegen Breakage Syndrome 68 0.027
697
KWS002 Kawasaki Disease 67 0.027
698
P PNM007 Pneumonia 66 0.027
699
P GLB002 Glioblastoma 66 0.027
700
P KDN018 Kidney Disease 65 0.027
701
P MSC005 Muscular Dystrophy 65 0.027
702
P ATS007 Autism Spectrum Disorder 65 0.027
703
P PRP003 Porphyria Cutanea Tarda 64 0.027
704
P VLC001 Velocardiofacial Syndrome 64 0.027
705
P AST007 Astrocytoma 63 0.027
706
ART005 Arteriovenous Malformation 63 0.027
707
PRT037 Pertussis 63 0.027
708
P MCH002 Machado-Joseph Disease 62 0.027
709
LYM017 Lyme Disease 62 0.027
710
P NRC002 Narcolepsy 62 0.027
711
P FRD001 Friedreich Ataxia 62 0.027
712
P HRP006 Herpes Simplex 62 0.027
713
P THL005 Thalassemia 61 0.027
714
GLB015 Glioblastoma Multiforme 61 0.027
715
CHR066 Chronic Fatigue Syndrome 61 0.027
716
BLS001 Blau Syndrome 61 0.027
717
P TMP003 Temporal Arteritis 61 0.027
718
P FML161 Familial Mediterranean Fever, Ar 61 0.027
719
P LYM025 Lymphedema 60 0.027
720
c LCL006 Localized Scleroderma 60 0.027
721
DFC004 Deficiency Anemia 60 0.027
722
PRT036 Peritonitis 60 0.027
723
P BPL003 Bipolar Disorder 60 0.027
724
P CNG015 Congenital Diaphragmatic Hernia 60 0.027
725
P INT068 Intestinal Disease 59 0.027
726
P DRM010 Dermatomyositis 59 0.027
727
P PRP029 Porphyria 59 0.027
728
P MYP006 Myopia 59 0.027
729
INT146 Intervertebral Disc Disease 59 0.027
730
P PNC025 Panic Disorder 58 0.027
731
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58 0.027
732
MRB003 Morbid Obesity 58 0.027
733
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.027
734
ALC006 Alcoholic Hepatitis 58 0.027
735
EXF001 Exfoliation Syndrome 57 0.027
736
MLG108 Malignant Melanoma, Somatic 57 0.027
737
INT066 Interstitial Lung Disease 57 0.027
738
ADL002 Adult Syndrome 57 0.027
739
MLG056 Malignant Hyperthermia 57 0.027
740
TRG002 Trigeminal Neuralgia 56 0.027
741
P ACR001 Aicardi-Goutieres Syndrome 56 0.027
742
P SCL018 Scoliosis 56 0.027
743
P MYS005 Myositis 56 0.027
744
ACN002 Acanthosis Nigricans 56 0.027
745
LTT002 Letterer-Siwe Disease 56 0.027
746
P EPD009 Epidermolysis Bullosa Dystrophica 56 0.027
747
JNT002 Joint Disorders 55 0.027
748
GST033 Gestational Diabetes 55 0.027
749
CRM001 Crimean-Congo Hemorrhagic Fever 55 0.027
750
P CRP007 Carpenter Syndrome 55 0.027
751
c RHM021 Rheumatoid Arthritis, Systemic Juvenile 55 0.027
752
APH002 Aphasia 55 0.027
753
P CNV004 Canavan Disease 55 0.027
754
P HLL001 Hallermann-Streiff Syndrome 55 0.027
755
GLC003 Glucose Intolerance 54 0.027
756
ERD001 Erdheim-Chester Disease 54 0.027
757
P LPR002 Leopard Syndrome 54 0.027
758
P PLY019 Polyneuropathy 54 0.027
759
P MNC007 Monocytic Leukemia 54 0.027
760
SNS001 Sensorineural Hearing Loss 54 0.027
761
P FTL001 Fetal Alcohol Syndrome 53 0.027
762
PRP019 Peripheral Nervous System Disease 53 0.027
763
CMP010 Complex Regional Pain Syndrome 53 0.027
764
c BCT007 Bacterial Meningitis 53 0.027
765
CHK001 Chikungunya 53 0.027
766
P RTN016 Retinal Degeneration 53 0.027
767
P LRY019 Laryngitis 53 0.027
768
P SMP003 Simpson-Golabi-Behmel Syndrome 53 0.027
769
RSC001 Rosacea 53 0.027
770
THL018 Thalassemia Major 52 0.027
771
PST046 Post-Transplant Lymphoproliferative Disease 52 0.027
772
P STR020 Strabismus 52 0.027
773
P PLY041 Polymyositis 52 0.027
774
P HYP024 Hypoparathyroidism 52 0.027
775
P PTS002 Ptosis 52 0.027
776
P MLT007 Multiple Epiphyseal Dysplasia 52 0.027
777
MNT002 Mental Depression 52 0.027
778
BRN106 Burns 52 0.027
779
P OST009 Osteochondritis Dissecans 52 0.027
780
IMP002 Imperforate Anus 52 0.027
781
CYS005 Cysticercosis 52 0.027
782
SLC006 Silicosis 52 0.027
783
DMN002 Dementia 52 0.027
784
MVM001 Movement Disease 52 0.027
785
c NMN015 Niemann-Pick Disease, Type C1 51 0.027
786
c VRL007 Viral Encephalitis 51 0.027
787
GNT003 Genital Herpes 51 0.027
788
BCT002 Bacterial Vaginosis 51 0.027
789
OPT037 Optic Nerve Hypoplasia 51 0.027
790
P FNC043 Fanconi Anemia, Complementation Group E 51 0.027
791
HMG005 Hemoglobinopathy 51 0.027
792
MCN007 Meconium Aspiration Syndrome 51 0.027
793
PMS001 Poems Syndrome 51 0.027
794
IRN001 Iron Deficiency Anemia 51 0.027
795
P GND004 Gonadal Dysgenesis 51 0.027
796
P ESN008 Eosinophilic Pneumonia 51 0.027
797
CDL003 Caudal Regression Syndrome 50 0.027
798
P FML052 Familial Cold Autoinflammatory Syndrome 50 0.027
799
RDC002 Radiculopathy 50 0.027
800
JPN002 Japanese Encephalitis 50 0.027
801
P PNM006 Pneumoconiosis 50 0.027
802
SCH002 Schnitzler Syndrome 50 0.027
803
URB001 Urbach-Wiethe Disease 50 0.027
804
MLL012 Miller Syndrome 50 0.027
805
NNL002 Nonalcoholic Steatohepatitis 50 0.027
806
PRC013 Pericarditis 50 0.027
807
NRG002 Neurogenic Bladder 50 0.027
808
STT041 Stuttering 49 0.027
809
MBS002 Moebius Syndrome 49 0.027
810
P PLN008 Peeling Skin Syndrome 49 0.027
811
ATR002 Atransferrinemia 49 0.027
812
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49 0.027
813
c ANM036 Anemia, Sideroblastic, 1 49 0.027
814
LGN001 Legionnaires' Disease 49 0.027
815
APR001 Apraxia 49 0.027
816
SRS007 Sorsby Fundus Dystrophy 49 0.027
817
PRT029 Parathyroid Adenoma 49 0.027
818
RTN023 Retinitis 49 0.027
819
ONC002 Onchocerciasis 48 0.027
820
PRT038 Protein-Energy Malnutrition 48 0.027
821
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 48 0.027
822
SPN019 Spondylolisthesis 48 0.027
823
c SVR005 Severe Pre-Eclampsia 48 0.027
824
PRT002 Paratyphoid Fever 48 0.027
825
OPT009 Optic Neuritis 48 0.027
826
P CNG411 Congenital Disorder of Glycosylation, Type in 48 0.027
827
RGH009 Right Atrial Isomerism 48 0.027
828
c CNG415 Congenital Disorder of Glycosylation, Type Ia 48 0.027
829
P GLM040 Glioma Susceptibility 1 48 0.027
830
OVR063 Overnutrition 48 0.027
831
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 48 0.027
832
P LPM005 Lipomatosis 48 0.027
833
MYL001 Myelitis 48 0.027
834
c ANT034 Anterior Uveitis 47 0.027
835
MYL003 Myeloid Sarcoma 47 0.027
836
TRN022 Transcobalamin Ii Deficiency 47 0.027
837
MST002 Mast-Cell Leukemia 47 0.027
838
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.027
839
DYS073 Dysphagia 47 0.027
840
P CTN003 Cutaneous Lupus Erythematosus 47 0.027
841
NTR005 Nutritional Deficiency Disease 47 0.027
842
CHR005 Chorioamnionitis 47 0.027
843
P PLM006 Pulmonary Alveolar Proteinosis 46 0.027
844
GSG001 Gas Gangrene 46 0.027
845
TRC040 Tracheoesophageal Fistula 46 0.027
846
ORL013 Oral Lichen Planus 46 0.027
847
c RTN160 Retinitis Pigmentosa 60 46 0.027
848
P CRT033 Corticobasal Degeneration 46 0.027
849
c ATS275 Autosomal Recessive Primary Microcephaly 46 0.027
850
P SCL015 Scleritis 46 0.027
851
P D2H001 D-2-Hydroxyglutaric Aciduria 46 0.027
852
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46 0.027
853
c PST041 Posterior Urethral Valves 46 0.027
854
c BPL002 Bipolar I Disorder 46 0.027
855
ILT001 Ileitis 46 0.027
856
c ACT068 Acute Cystitis 45 0.027
857
CNT046 Central Nervous System Vasculitis 45 0.027
858
RFR010 Refractory Anemia 45 0.027
859
SYN005 Synostosis 45 0.027
860
PYL006 Pyloric Stenosis 45 0.027
861
HMN009 Hemangioblastoma 45 0.027
862
RSP002 Respiratory Syncytial Virus Infectious Disease 45 0.027
863
P ORF001 Orofaciodigital Syndrome 45 0.027
864
PLM035 Pulmonary Eosinophilia 45 0.027
865
DWR001 Dwarfism 45 0.027
866
ANR004 Anuria 44 0.027
867
HMS001 Hemosiderosis 44 0.027
868
RNS001 Raine Syndrome 44 0.027
869
c ACT078 Acute Porphyria 44 0.027
870
MLT006 Multidrug-Resistant Tuberculosis 44 0.027
871
P CRN074 Coronary Artery Aneurysm 44 0.027
872
P SDR002 Siderosis 44 0.027
873
P INF016 Infantile Epileptic Encephalopathy 44 0.027
874
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44 0.027
875
P CMP008 Compartment Syndrome 44 0.027
876
MCR018 Microcytic Anemia 44 0.027
877
SKN027 Skin Conditions 44 0.027
878
SYS003 Systolic Heart Failure 43 0.027
879
IRR003 Irritant Dermatitis 43 0.027
880
GLS007 Glossitis 43 0.027
881
HYP099 Hyperferritinemia-Cataract Syndrome 43 0.027
882
c FTL006 Fetal Alcohol Spectrum Disorder 43 0.027
883
P MTC004 Mitochondrial Encephalomyopathy 43 0.027
884
IRN002 Iron Metabolism Disease 42 0.027
885
LGH004 Light Chain Deposition Disease 42 0.027
886
CRB004 Cerebral Artery Occlusion 42 0.027
887
ANC002 Anca-Associated Vasculitis 42 0.027
888
P ACQ022 Acquired Generalized Lipodystrophy 42 0.027
889
ANT039 Antisynthetase Syndrome 42 0.027
890
c HRD169 Hereditary Colorectal Cancer 41 0.027
891
c INF086 Inflammatory Bowel Disease 3 41 0.027
892
P HYP009 Hypertrophic Pyloric Stenosis 41 0.027
893
MSN001 Mesangial Proliferative Glomerulonephritis 41 0.027
894
c HMC010 Hemochromatosis, Type 3 41 0.027
895
LRY029 Laryngomalacia 41 0.027
896
MTS001 Mutism 41 0.027
897
P MNN018 Mannosidosis 41 0.027
898
ESN004 Eosinophilic Gastritis 41 0.027
899
TST018 Testicular Yolk Sac Tumor 41 0.027
900
RTR008 Root Resorption 41 0.027
901
P ATX024 Ataxia-Oculomotor Apraxia 3 41 0.027
902
c HMC009 Hemochromatosis Type 2 40 0.027
903
TND004 Tendinopathy 40 0.027
904
P FNG006 Feingold Syndrome 1 40 0.027
905
DNG001 Dengue Shock Syndrome 40 0.027
906
LCR008 Lacrimal Apparatus Disease 40 0.027
907
P SDR003 Sideroblastic Anemia 40 0.027
908
VLV042 Vulvar Vestibulitis Syndrome 40 0.027
909
NSP002 Nasopharyngitis 40 0.027
910
THL017 Thalassemia Intermedia 40 0.027
911
ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 40 0.027
912
TLP001 Talipes Equinovarus 40 0.027
913
NRM002 Normal Pressure Hydrocephalus 39 0.027
914
P SYN012 Synpolydactyly 39 0.027
915
P CRN026 Corneal Edema 39 0.027
916
P OPT048 Opitz-Gbbb Syndrome 39 0.027
917
P CNG024 Congenital Nystagmus 39 0.027
918
LYM009 Lymphocytic Choriomeningitis 39 0.027
919
P CRB088 Cerebral Atrophy 39 0.027
920
c HMC035 Hemochromatosis, Type 4 38 0.027
921
c RTN177 Retinitis Pigmentosa 73 38 0.027
922
MNN021 Meningococcemia 38 0.027
923
c PLN017 Peeling Skin Syndrome 1 38 0.027
924
NRP016 Neuropathy, Recurrent, with Pressure Palsies 38 0.027
925
RCT017 Rectal Disease 38 0.027
926
MTR007 Motor Peripheral Neuropathy 37 0.027
927
MTL002 Metal Metabolism Disorder 37 0.027
928
JWC001 Jaw Cancer 37 0.027
929
ADL053 Adult Astrocytic Tumour 37 0.027
930
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37 0.027
931
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37 0.027
932
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 37 0.027
933
P ENC011 Encephalomyopathy 37 0.027
934
P AXN001 Axonal Neuropathy 36 0.027
935
ETH004 Euthyroid Sick Syndrome 36 0.027
936
c MNT109 Mental Retardation, X-Linked, Syndromic 15 36 0.027
937
WBR001 Weber Syndrome 36 0.027
938
STC004 Stachybotrys Chartarum 36 0.027
939
CHL122 Cholesteatoma of Middle Ear 36 0.027
940
c INT059 Internal Hemorrhoid 36 0.027
941
XLN003 X-Linked Sideroblastic Anemia with Ataxia 36 0.027
942
CRT045 Creatine Phosphokinase, Elevated Serum 36 0.027
943
c RTN090 Retinitis Pigmentosa 55 35 0.027
944
ANT018 Anthracosis 35 0.027
945
CNJ007 Conjunctivochalasis 35 0.027
946
TRS002 Tarsal-Carpal Coalition Syndrome 35 0.027
947
WHP002 Whiplash 35 0.027
948
ADP007 Adie Pupil 35 0.027
949
ACT060 Acute Vascular Insufficiency of Intestine 35 0.027
950
FLC001 Folic Acid Deficiency Anemia 35 0.027
951
P PHS005 Peho Syndrome 35 0.027
952
P MYG005 Myoglobinuria 34 0.027
953
P CLB027 Coloboma, Ocular 34 0.027
954
SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34 0.027
955
KSH004 Kashin-Beck Disease 34 0.027
956
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 34 0.027
957
P NNN014 Noonan-Like Syndrome with Loose Anagen Hair 34 0.027
958
P LSS024 Lissencephaly with Cerebellar Hypoplasia 34 0.027
959
CHN065 Choanal Atresia, Posterior 33 0.027
960
CRN247 Corneal Dystrophy, Thiel-Behnke Type 33 0.027
961
KFM001 Kaufman Oculocerebrofacial Syndrome 33 0.027
962
GLC055 Glucocorticoid Deficiency, Due to Acth Unresponsiveness 33 0.027
963
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 33 0.027
964
HYP001 Hypochromic Microcytic Anemia 33 0.027
965
SGT001 Sagittal Sinus Thrombosis 33 0.027
966
SRN002 Sirenomelia 33 0.027
967
CRB001 Cerebral Lymphoma 32 0.027
968
c PST001 Posterior Myocardial Infarction 32 0.027
969
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32 0.027
970
SCH011 Schizotypal Personality Disorder 32 0.027
971
WDS002 Woods Syndrome 32 0.027
972
c CNG439 Congenital Lymphedema 32 0.027
973
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32 0.027
974
MLD002 Mild Pre-Eclampsia 32 0.027
975
HRD005 Hard Palate Cancer 32 0.027
976
c KNB004 Knobloch Syndrome, Type 1 32 0.027
977
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32 0.027
978
LGN006 Legionnaire Disease 32 0.027
979
STR094 Stromme Syndrome 31 0.027
980
BLC004 Blackwater Fever 31 0.027
981
c TRN014 Transient Arthritis 31 0.027
982
c STS007 Sotos Syndrome 2 31 0.027
983
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 31 0.027
984
LST003 Listeria Meningitis 31 0.027
985
CHR068 Chronic Nk-Cell Lymphocytosis 31 0.027
986
IRN008 Iron Overload in Africa 31 0.027
987
SCR039 Scorpion Envenomation 31 0.027
988
NTM001 Nutmeg Liver 31 0.027
989
SPR034 Superior Limbic Keratoconjunctivitis 30 0.027
990
NCT001 Necatoriasis 30 0.027
991
PST086 Posterior Cortical Atrophy 30 0.027
992
IDP041 Idiopathic Recurrent Pericarditis 30 0.027
993
PRS043 Prostate Rhabdomyosarcoma 30 0.027
994
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30 0.027
995
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30 0.027
996
NLL001 Null-Cell Leukemia 30 0.027
997
MTH047 Methanol Poisoning 30 0.027
998
ECH002 Echolalia 30 0.027
999
RFM001 Roifman Syndrome 29 0.027
1000
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29 0.027
1001
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29 0.027
1002
SYN057 Syndromic Intellectual Disability 29 0.027
1003
c MCR248 Microcephaly 3, Primary, Autosomal Recessive 29 0.027
1004
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 29 0.027
1005
c ACT066 Acute Cervicitis 29 0.027
1006
c FNC029 Fanconi Anemia, Complementation Group I 29 0.027
1007
SPT016 Septopreoptic Holoprosencephaly 29 0.027
1008
FRS007 Frias Syndrome 28 0.027
1009
GLY094 Glycine Encephalopathy with Normal Serum Glycine 28 0.027
1010
P ATS049 Autism Susceptibility, X-Linked 2 28 0.027
1011
c CRN217 Craniosynostosis 3 28 0.027
1012
P ACR093 Acrofrontofacionasal Dysostosis 28 0.027
1013
ORB007 Orbital Cyst 28 0.027
1014
c PNT014 Pontocerebellar Hypoplasia Type 5 28 0.027
1015
c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28 0.027
1016
c HLP025 Holoprosencephaly 9 28 0.027
1017
MDD015 Mid-Dermal Elastolysis 28 0.027
1018
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.027
1019
P PLT008 Pili Torti 27 0.027
1020
P ATX010 Ataxia Neuropathy Spectrum 27 0.027
1021
OMS001 Omsk Hemorrhagic Fever 27 0.027
1022
c TRS012 Trisomy 22 27 0.027
1023
CHL109 Childhood Apraxia of Speech 27 0.027
1024
ANT019 Anterograde Amnesia 27 0.027
1025
ATM052 Autoimmune Disease 1 27 0.027
1026
c MCK017 Meckel Syndrome 4 27 0.027
1027
HFS001 Hfe-Associated Hereditary Hemochromatosis 27 0.027
1028
c JBR011 Joubert Syndrome 7 27 0.027
1029
SPS002 Spastic Entropion 27 0.027
1030
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 26 0.027
1031
BFD001 Bifid Nose 26 0.027
1032
ANT007 Anterior Horn Cell Disease 26 0.027
1033
MRN009 Morning Glory Syndrome 26 0.027
1034
MND023 Mend Syndrome 26 0.027
1035
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 26 0.027
1036
PRL001 Purulent Labyrinthitis 26 0.027
1037
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 26 0.027
1038
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25 0.027
1039
SPT019 Septo-Optic Dysplasia Spectrum 25 0.027
1040
CHR053 Chronic Follicular Conjunctivitis 25 0.027
1041
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.027
1042
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25 0.027
1043
c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25 0.027
1044
SMT020 Smith-Kingsmore Syndrome 25 0.027
1045
LKN007 Leukonychia Totalis 25 0.027
1046
CRB147 Cerebellofaciodental Syndrome 25 0.027
1047
c CFF010 Coffin-Siris Syndrome 3 25 0.027
1048
NLX003 Neu-Laxova Syndrome 2 24 0.027
1049
c RNG022 Ring Chromosome 6 24 0.027
1050
SSR001 Ssr4-Cdg 24 0.027
1051
CHR566 Chromosome 1q21.1 Deletion Syndrome 24 0.027
1052
c CFF009 Coffin-Siris Syndrome 4 24 0.027
1053
c CRD167 Cardiofaciocutaneous Syndrome 4 24 0.027
1054
c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 23 0.027
1055
c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23 0.027
1056
c MNT210 Mental Retardation, Autosomal Recessive 42 23 0.027
1057
ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 23 0.027
1058
OCC011 Occipital Encephalocele 23 0.027
1059
SCH024 Schinzel Giedion Syndrome 23 0.027
1060
KPR002 Kapur-Toriello Syndrome 23 0.027
1061
IMM141 Immunodeficiency 49 23 0.027
1062
BRN007 Brain Oligodendroglioma 22 0.027
1063
c MNT176 Mental Retardation, Autosomal Recessive 38 22 0.027
1064
SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 22 0.027
1065
c PRX062 Peroxisome Biogenesis Disorder 8b 22 0.027
1066
WLL012 Williams-Beuren Region Duplication Syndrome 22 0.027
1067
CHR502 Chromosome 17q12 Duplication Syndrome 22 0.027
1068
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 21 0.027
1069
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 21 0.027
1070
SPN379 Spondyloepimetaphyseal Dysplasia, Camera-Genevieve Type 21 0.027
1071
c EPL154 Epilepsy, Progressive Myoclonic, 9 21 0.027
1072
ACC001 Accessory Nerve Disease 21 0.027
1073
INT062 Interstitial Myocarditis 21 0.027
1074
WHT019 White-Sutton Syndrome 21 0.027
1075
LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 20 0.027
1076
MNN022 Meningoencephalocele 20 0.027
1077
c SPS028 Spastic Paraplegia 18 20 0.027
1078
SKT001 Sakati Syndrome 20 0.027
1079
c FML302 Familial Schizencephaly, Shh-Related 20 0.027
1080
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 20 0.027
1081
DSN002 Desanto-Shinawi Syndrome 20 0.027
1082
c RNG018 Ring Chromosome 22 20 0.027
1083
PTC006 Potocki-Luspski Syndrome 20 0.027
1084
c MNT280 Mental Retardation, Autosomal Dominant 43 20 0.027
1085
CRN264 Craniosynostosis with Fibular Aplasia 20 0.027
1086
c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19 0.027
1087
c SYM026 Symmetric Circumferential Skin Creases, Congenital, 2 19 0.027
1088
c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19 0.027
1089
c 3MT021 3-Methylglutaconic Aciduria, Type Viii 19 0.027
1090
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 18 0.027