Search results for "heterotopia"

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

427 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 43 7.552
2
c HTR007 Heterotopia, Periventricular, Ed Variant 31 6.626
3
c FLN007 Flna-Related Periventricular Nodular Heterotopia 22 6.142
4
PRV007 Periventricular Heterotopia with Microcephaly 27 5.783
5
P HTR015 Heterotopia, Periventricular 29 4.564
6
P SBC028 Subcortical Band Heterotopia 33 4.429
7
c LSS005 Lissencephaly 1 49 3.736
8
c PRV016 Periventricular Nodular Heterotopia 6 23 3.706
9
P LSS027 Lissencephaly, X-Linked 43 3.683
10
c PRV013 Periventricular Nodular Heterotopia 3 16 3.657
11
c PRV014 Periventricular Nodular Heterotopia 5 16 3.657
12
SBP003 Subependymal Nodular Heterotopia 12 3.258
13
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.203
14
NSL020 Nasal Glial Heterotopia 15 2.731
15
HRD055 Hereditary Nodular Heterotopia 3 1.912
16
NDL022 Nodular Neuronal Heterotopia 18 1.881
17
FML049 Familial Band Heterotopia 2 1.881
18
MRG004 Marginal Glioneuronal Heterotopia 1 1.881
19
SBC038 Sub-Cortical Nodular Heterotopia 5 1.863
20
c DCX003 Dcx-Related Subcortical Band Heterotopia 5 1.863
21
17L003 17-Linked Subcortical Band Heterotopia 3 1.863
22
DCX001 Dcx-Related Disorders 9 1.841
23
NRN002 Neuronitis 40 0.189
24
P LSS002 Lissencephaly 45 0.170
25
CRB009 Cerebritis 37 0.136
26
P PLY024 Polymicrogyria 33 0.118
27
P ENC008 Encephalocele 46 0.113
28
P TRC086 Trichohepatoenteric Syndrome 1 42 0.113
29
P SZR006 Seizure Disorder 48 0.107
30
NRN016 Neuronal Migration Disorders 32 0.107
31
P EHL001 Ehlers-Danlos Syndrome 51 0.102
32
VSL002 Visual Epilepsy 31 0.096
33
ANR002 Aniridia 72 0.090
34
P EPL002 Epilepsy Syndrome 54 0.090
35
ACN002 Acanthosis Nigricans 53 0.090
36
PCH002 Pachygyria 37 0.090
37
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 34 0.090
38
P ATX010 Ataxia Neuropathy Spectrum 31 0.090
39
AND015 Androgen Insensitivity 65 0.083
40
P AXN010 Axenfeld-Rieger Syndrome, Type 3 60 0.083
41
P MCR010 Microcephaly 49 0.083
42
THR013 Thoracic Outlet Syndrome 47 0.083
43
ALR002 Al-Raqad Syndrome 23 0.083
44
P HRM001 Hermansky-Pudlak Syndrome 62 0.076
45
c PNC108 Pancreatitis, Hereditary 59 0.076
46
P HMP002 Hemophagocytic Lymphohistiocytosis 59 0.076
47
WST001 West Syndrome 54 0.076
48
HNT002 Hantavirus Pulmonary Syndrome 52 0.076
49
P SYN001 Syndactyly 49 0.076
50
P INT063 Intellectual Disability 36 0.076
51
c SPN225 Spondyloarthropathy 1 66 0.068
52
P ANG001 Angelman Syndrome 66 0.068
53
P AST007 Astrocytoma 55 0.068
54
P HYD006 Hydrocephalus 54 0.068
55
P CHL002 Childhood Absence Epilepsy 51 0.068
56
P PNC044 Pancreatitis 51 0.068
57
c ART101 Aortic Valve Disease 2 46 0.068
58
MGL013 Megalencephaly 44 0.068
59
P HLP001 Holoprosencephaly 62 0.059
60
P EHL033 Ehlers-Danlos Syndrome, Classic Type 60 0.059
61
P CRN037 Craniosynostosis 57 0.059
62
SMT008 Smith-Magenis Syndrome 54 0.059
63
CHL067 Cholecystitis 51 0.059
64
TMP001 Temporal Lobe Epilepsy 48 0.059
65
LRN003 Learning Disability 47 0.059
66
MYC002 Mycobacterium Avium Complex Disease 46 0.059
67
MLN014 Melnick-Needles Syndrome 44 0.059
68
FRN012 Frontometaphyseal Dysplasia 41 0.059
69
P MNN007 Meningocele 36 0.059
70
P BRT040 Baraitser-Winter Syndrome 32 0.059
71
CHD004 Chudley-Mccullough Syndrome 31 0.059
72
c LSS025 Lissencephaly 5 19 0.059
73
AND005 Androgen Insensitivity Syndrome, Mild 19 0.059
74
CDS001 Cadasil 70 0.048
75
STR067 Stroke, Ischemic 68 0.048
76
P FRG001 Fragile X Syndrome 66 0.048
77
P TBR001 Tuberous Sclerosis 65 0.048
78
P THN009 Thanatophoric Dysplasia, Type I 61 0.048
79
SKN016 Skin Disease 61 0.048
80
CRB039 Cerebrovascular Disease 58 0.048
81
MBS002 Moebius Syndrome 57 0.048
82
P ADN016 Adenocarcinoma 56 0.048
83
IMG001 Image Syndrome 56 0.048
84
P DYS154 Dystonia 53 0.048
85
CLF027 Cleft Palate, Isolated 52 0.048
86
STT001 Status Epilepticus 51 0.048
87
SCH016 Schimke Immunoosseous Dysplasia 51 0.048
88
P ESP024 Esophagitis 51 0.048
89
KBG001 Kbg Syndrome 50 0.048
90
JCB001 Jacobsen Syndrome 49 0.048
91
P HYP076 Hyperthyroidism 48 0.048
92
c SCN006 Secondary Syphilis 48 0.048
93
PTN002 Patent Ductus Arteriosus 46 0.048
94
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 46 0.048
95
CNS004 Constipation 44 0.048
96
P LFT003 Left Ventricular Noncompaction 44 0.048
97
FCT013 Factor V Leiden Thrombophilia 43 0.048
98
ANR040 Aneurysm 43 0.048
99
ARC002 Arachnoiditis 43 0.048
100
HMP005 Hemiplegia 43 0.048
101
P PLC011 Pilocytic Astrocytoma 42 0.048
102
P CRV039 Cervicitis 42 0.048
103
HDC001 Headache 42 0.048
104
CRB045 Cerebellar Hypoplasia 40 0.048
105
DDN006 Duodenitis 40 0.048
106
ARC007 Arachnoid Cysts 39 0.048
107
TTR016 Tetra-Amelia Syndrome 38 0.048
108
SKL014 Skeletal Dysplasia 38 0.048
109
P CMM008 Communicating Hydrocephalus 36 0.048
110
OBS004 Obstructive Hydrocephalus 35 0.048
111
MSN003 Mesenteric Vascular Occlusion 35 0.048
112
ALB014 Alobar Holoprosencephaly 34 0.048
113
HYP047 Hypertropia 31 0.048
114
PTN008 Patent Arterial Duct 29 0.048
115
CHR469 Choristoma 26 0.048
116
AMN009 Amniotic Band Syndrome 25 0.048
117
c LSS009 Lissencephaly 3 25 0.048
118
VNM003 Van Maldergem Syndrome 1 24 0.048
119
c BNG076 Benign Exophthalmos Syndrome 21 0.048
120
VNM002 Van Maldergem Syndrome 2 20 0.048
121
15Q007 15q11.2 Microdeletion 17 0.048
122
LMB013 Limb Reduction Defect 11 0.048
123
c AMY091 Amyotrophic Lateral Sclerosis 1 83 0.034
124
P ATX030 Ataxia-Telangiectasia 76 0.034
125
P RTN008 Retinitis Pigmentosa 75 0.034
126
P PFF001 Pfeiffer Syndrome 71 0.034
127
P CLC005 Celiac Disease 69 0.034
128
SMT004 Smith-Lemli-Opitz Syndrome 67 0.034
129
CRZ001 Crouzon Syndrome 67 0.034
130
FCT007 Factor Vii Deficiency 66 0.034
131
P STH001 Saethre-Chotzen Syndrome 65 0.034
132
c HMP004 Hemophilia B 65 0.034
133
ACH004 Achondroplasia 65 0.034
134
GLN010 Glanzmann Thrombasthenia 65 0.034
135
c HMP029 Hemophilia a 64 0.034
136
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.034
137
VNW001 Von Willebrand's Disease 63 0.034
138
CMP005 Campomelic Dysplasia 63 0.034
139
APR006 Apert Syndrome 63 0.034
140
PRP027 Peripheral Vascular Disease 62 0.034
141
LDD001 Ladd Syndrome 60 0.034
142
WLL001 Williams-Beuren Syndrome 59 0.034
143
P CHR071 Charcot-Marie-Tooth Disease 59 0.034
144
ART001 Arterial Tortuosity Syndrome 59 0.034
145
GST092 Gastroesophageal Reflux 58 0.034
146
P HPT021 Hepatitis 58 0.034
147
FCL009 Focal Dermal Hypoplasia 58 0.034
148
P CNG015 Congenital Diaphragmatic Hernia 58 0.034
149
P AND016 Andersen Syndrome 58 0.034
150
P BCK002 Beckwith-Wiedemann Syndrome 58 0.034
151
INC021 Incontinentia Pigmenti 58 0.034
152
FCT003 Factor X Deficiency 58 0.034
153
c BSL007 Basal Cell Carcinoma 57 0.034
154
P HYD011 Hydrolethalus Syndrome 57 0.034
155
MLG068 Malignant Glioma 57 0.034
156
HYP042 Hypochondroplasia 56 0.034
157
c CHR536 Charcot-Marie-Tooth Disease, Type 1a 56 0.034
158
P ANT006 Antiphospholipid Syndrome 55 0.034
159
VSC007 Vascular Disease 55 0.034
160
FCT006 Factor V Deficiency 54 0.034
161
P HMN010 Hemangioma 54 0.034
162
GLL022 Guillain-Barre Syndrome 54 0.034
163
MND007 Mandibuloacral Dysplasia 54 0.034
164
MNK003 Muenke Syndrome 54 0.034
165
P SCH018 Schizencephaly 54 0.034
166
P ESC003 Escobar Syndrome 53 0.034
167
MCR013 Microphthalmia 53 0.034
168
PLM033 Pulmonary Embolism 53 0.034
169
DBT010 Diabetic Neuropathy 53 0.034
170
P HYP620 Hypoprothrombinemia 52 0.034
171
P THR015 Thrombophilia 52 0.034
172
DJR004 Dejerine-Sottas Disease 52 0.034
173
c MTB001 Metabolic Syndrome X 52 0.034
174
CHN055 Chanarin-Dorfman Syndrome 51 0.034
175
P HMP007 Hemophilia 51 0.034
176
P GRV001 Graves' Disease 51 0.034
177
PTS001 Patau Syndrome 51 0.034
178
FRS002 Frasier Syndrome 50 0.034
179
P HYP040 Hypospadias 50 0.034
180
ANT003 Antley-Bixler Syndrome 50 0.034
181
c THR082 Thrombophilia Due to Activated Protein C Resistance 50 0.034
182
PPL049 Papillon-Lefevre Syndrome 50 0.034
183
P SNS014 Sinusitis 49 0.034
184
JCK001 Jackson-Weiss Syndrome 49 0.034
185
CRD002 Cri-Du-Chat Syndrome 49 0.034
186
CNN005 Connective Tissue Disease 49 0.034
187
P APL006 Aplasia Cutis Congenita 49 0.034
188
c THR092 Thrombophilia Due to Thrombin Defect 49 0.034
189
P GST044 Gastritis 49 0.034
190
c LPD037 Lipodystrophy, Familial Partial, 2 49 0.034
191
SPT006 Septooptic Dysplasia 49 0.034
192
FCT004 Factor Xii Deficiency 48 0.034
193
P CNG046 Congenital Fiber-Type Disproportion 48 0.034
194
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 48 0.034
195
DSS009 Disseminated Intravascular Coagulation 48 0.034
196
46X003 46,xx Testicular Disorder of Sex Development 48 0.034
197
ERD001 Erdheim-Chester Disease 48 0.034
198
P THR005 Thrombotic Thrombocytopenic Purpura 48 0.034
199
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 48 0.034
200
THR016 Thrombophlebitis 48 0.034
201
P NRP001 Neuropathy 48 0.034
202
P CTR002 Cataract 48 0.034
203
OST044 Osteoglophonic Dysplasia 47 0.034
204
P PLG001 Pelger-Huet Anomaly 47 0.034
205
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.034
206
PRP030 Purpura 47 0.034
207
FCT022 Factor Xi Deficiency, Autosomal Recessive 47 0.034
208
TTH006 Tooth Disease 47 0.034
209
SND002 Sneddon Syndrome 47 0.034
210
P STR020 Strabismus 47 0.034
211
RSS002 Roussy-Levy Syndrome 46 0.034
212
c AFB002 Afibrinogenemia, Congenital 46 0.034
213
INT075 Intracranial Hypertension 46 0.034
214
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 46 0.034
215
ACR012 Aicardi Syndrome 46 0.034
216
ACH005 Achalasia 46 0.034
217
P PLY019 Polyneuropathy 46 0.034
218
SPN020 Spondylosis 46 0.034
219
ZLL002 Zollinger-Ellison Syndrome 46 0.034
220
PRT011 Protein C Deficiency 46 0.034
221
PRT014 Protein S Deficiency 46 0.034
222
NRM005 Neuromuscular Disease 45 0.034
223
GLS001 Gliosarcoma 45 0.034
224
c ORF037 Orofaciodigital Syndrome I 45 0.034
225
P ZLL001 Zellweger Syndrome 45 0.034
226
c OTP007 Otopalatodigital Syndrome, Type Ii 45 0.034
227
P LPD010 Lipodystrophy 45 0.034
228
P ATR001 Atrioventricular Septal Defect 45 0.034
229
PRK001 Porokeratosis 44 0.034
230
P SCL018 Scoliosis 44 0.034
231
P EXP004 Exophthalmos 44 0.034
232
ECT006 Ectodermal Dysplasia 44 0.034
233
PRT012 Prothrombin Deficiency 43 0.034
234
SCT005 Scott Syndrome 43 0.034
235
c SPN106 Spinocerebellar Ataxia 5 43 0.034
236
INC001 Incontinentia Pigmenti Achromians 43 0.034
237
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 43 0.034
238
NRT004 Neuritis 43 0.034
239
P GLM040 Glioma Susceptibility 1 43 0.034
240
GRD001 Giardiasis 43 0.034
241
NRC020 Neuroectodermal Tumor 43 0.034
242
c ART115 Aortic Valve Disease 1 43 0.034
243
c TBR024 Tuberous Sclerosis-1 43 0.034
244
GNT002 Giant Cell Glioblastoma 43 0.034
245
DYS018 Dysostosis 43 0.034
246
RTN023 Retinitis 43 0.034
247
RTC005 Reticulosarcoma 42 0.034
248
FCT001 Factor Viii Deficiency 42 0.034
249
CRN017 Coronary Thrombosis 42 0.034
250
GNT031 Genitopatellar Syndrome 42 0.034
251
P FML012 Familial Partial Lipodystrophy 42 0.034
252
P SHR001 Short Bowel Syndrome 42 0.034
253
NRP015 Neuropathy, Congenital Hypomyelinating 42 0.034
254
SYN005 Synostosis 41 0.034
255
P AFB001 Afibrinogenemia 41 0.034
256
ICH054 Ichthyosis, X-Linked 41 0.034
257
SWY002 Swyer Syndrome 41 0.034
258
ILT001 Ileitis 41 0.034
259
VNW005 Von Willebrand Disease, Type 1 41 0.034
260
P GND004 Gonadal Dysgenesis 41 0.034
261
PRT018 Portal Vein Thrombosis 41 0.034
262
LFT009 Left Ventricular Outflow Tract Obstruction 41 0.034
263
LNG039 Lung Squamous Cell Carcinoma 41 0.034
264
ANG054 Angina Pectoris 41 0.034
265
c CHR537 Charcot-Marie-Tooth Disease, Type 1e 41 0.034
266
c OTP006 Otopalatodigital Syndrome, Type I 40 0.034
267
LYM052 Lymphomatoid Papulosis 40 0.034
268
P PRP023 Peripheral Neuropathy 40 0.034
269
LCH009 Lichen Sclerosus 40 0.034
270
CRK001 Cork-Handlers' Disease 40 0.034
271
P JVN007 Juvenile Absence Epilepsy 40 0.034
272
P OST028 Osteochondroma 40 0.034
273
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 39 0.034
274
QBC001 Quebec Platelet Disorder 39 0.034
275
P INT191 Intestinal Lymphangiectasia 39 0.034
276
HPR003 Heparin-Induced Thrombocytopenia 39 0.034
277
LYM051 Lymphomatoid Granulomatosis 39 0.034
278
CRD001 Cardiac Tamponade 39 0.034
279
HMR002 Hemarthrosis 39 0.034
280
MNN014 Mononeuritis 39 0.034
281
FCT005 Factor Xiii Deficiency 39 0.034
282
LPM005 Lipomatosis 39 0.034
283
SKL017 Skeletal Dysplasias 39 0.034
284
HMM003 Hemimegalencephaly 39 0.034
285
ANN002 Anencephaly 38 0.034
286
SYN031 Synovial Chondromatosis 38 0.034
287
EBL001 Ebola Hemorrhagic Fever 38 0.034
288
EXT022 Exotropia 38 0.034
289
P ICH004 Ichthyosis 38 0.034
290
BRR012 Berardinelli-Seip Congenital Lipodystrophy 38 0.034
291
HTS001 Hiatus Hernia 38 0.034
292
HYP458 Hyper Ige Syndrome 38 0.034
293
NTR003 Natural Killer Cell Leukemia 38 0.034
294
P CHN014 Chondrodysplasia Punctata 38 0.034
295
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 38 0.034
296
PLY020 Polyradiculoneuropathy 38 0.034
297
HRM002 Hermaphroditism 37 0.034
298
c ACQ014 Acquired Hemophilia 37 0.034
299
PYL006 Pyloric Stenosis 37 0.034
300
PNN001 Panniculitis 37 0.034
301
PRP036 Peripheral T-Cell Lymphoma 37 0.034
302
CHL056 Cheilitis 37 0.034
303
GMS001 Gemistocytic Astrocytoma 37 0.034
304
TST015 Testicular Disease 37 0.034
305
HPT070 Hepatosplenic T-Cell Lymphoma 37 0.034
306
TRM011 Terminal Osseous Dysplasia 37 0.034
307
CHR008 Choroiditis 37 0.034
308
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 37 0.034
309
c SVR056 Severe Hemophilia a 37 0.034
310
GND001 Gonadoblastoma 36 0.034
311
TCL002 T-Cell Large Granular Lymphocyte Leukemia 36 0.034
312
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 36 0.034
313
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 36 0.034
314
CHR276 Chronic Active Epstein-Barr Virus Infection 35 0.034
315
P NRL007 Neurologic Diseases 35 0.034
316
VCS001 Vici Syndrome 35 0.034
317
VSC047 Vascular Malformation 35 0.034
318
46X012 46,xy Partial Gonadal Dysgenesis 35 0.034
319
P HYP265 Hypotonia 35 0.034
320
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 35 0.034
321
NCR003 Necrotizing Sialometaplasia 35 0.034
322
MCK002 Meckel's Diverticulum 35 0.034
323
c PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 35 0.034
324
BHR002 Bohring-Opitz Syndrome 35 0.034
325
RDL002 Radioulnar Synostosis 35 0.034
326
CRT015 Carotid Artery Occlusion 35 0.034
327
P FRN036 Frontonasal Dysplasia 1 34 0.034
328
ENT001 Enterocele 34 0.034
329
CTS005 Catastrophic Antiphospholipid Syndrome 34 0.034
330
MLN001 Melanotic Neuroectodermal Tumor 34 0.034
331
c HRD088 Hereditary Neuropathies 34 0.034
332
BLR005 Biliary Papillomatosis 34 0.034
333
c CNG012 Congenital Generalized Lipodystrophy 33 0.034
334
PLG004 Plagiocephaly 33 0.034
335
RHN003 Rhinosporidiosis 33 0.034
336
P MXD016 Mixed Gonadal Dysgenesis 33 0.034
337
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 33 0.034
338
c ACQ042 Acquired Hemophilia a 33 0.034
339
P CHR102 Charcot-Marie-Tooth Neuropathy 33 0.034
340
ACQ017 Acquired Von Willebrand Syndrome 33 0.034
341
TYP015 Type 2b Von Willebrand Disease 33 0.034
342
INT111 Intestinal Pseudoobstruction, Neuronal 33 0.034
343
c CNG413 Congenital Short Bowel Syndrome 32 0.034
344
BLD053 Blood Platelet Disease 32 0.034
345
P DYS005 Dyslexia 32 0.034
346
c PRX059 Peroxisome Biogenesis Disorder 1a 32 0.034
347
P CRB059 Cerebellar Degeneration 32 0.034
348
ILL001 Ileal Neoplasm 32 0.034
349
SGT001 Sagittal Sinus Thrombosis 32 0.034
350
PHC004 Phace Syndrome 32 0.034
351
CRT004 Carotid Artery Thrombosis 32 0.034
352
FCT016 Factor V and Factor Viii, Combined Deficiency of 31 0.034
353
ACR015 Acrocephalosyndactylia 31 0.034
354
SNS003 Sensory Peripheral Neuropathy 31 0.034
355
ATS008 Autosomal Dominant Disease 31 0.034
356
PRP019 Peripheral Nervous System Disease 31 0.034
357
c 46X001 46 Xy Gonadal Dysgenesis 30 0.034
358
P BLD051 Blood Coagulation Disease 30 0.034
359
c PFF007 Pfeiffer Syndrome Type 1 30 0.034
360
OCL034 Oculocerebrocutaneous Syndrome 30 0.034
361
c JVN024 Juvenile Hereditary Hemochromatosis 30 0.034
362
DND005 Dandy-Walker Complex 30 0.034
363
CMP001 Composite Lymphoma 30 0.034
364
BRC011 Brachial Plexus Neuropathy 30 0.034
365
ACT093 Actinic Cheilitis 30 0.034
366
SPS005 Spastic Hemiplegia 30 0.034
367
LTM002 Luteoma 30 0.034
368
QLT001 Qualitative Platelet Defect 30 0.034
369
OPT054 Opitz-Kaveggia Syndrome 30 0.034
370
LTH001 Lethal Midline Granuloma 30 0.034
371
CRB132 Cerebral Sinovenous Thrombosis 30 0.034
372
FRN014 Fournier Gangrene 29 0.034
373
INT078 Intracranial Thrombosis 29 0.034
374
46X033 46,xx Ovotesticular Disorder of Sex Development 29 0.034
375
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 29 0.034
376
MLL018 Miller-Dieker Lissencephaly Syndrome 29 0.034
377
PLY119 Polymicrogyria, Bilateral Perisylvian 29 0.034
378
MTR007 Motor Peripheral Neuropathy 29 0.034
379
MST019 Mastoiditis 29 0.034
380
AMY003 Amyotrophic Neuralgia 29 0.034
381
P CRD017 Cardiac Valvular Dysplasia, X-Linked 29 0.034
382
GND003 Gonadal Disease 28 0.034
383
BND014 Bone Development Disease 28 0.034
384
c CNG031 Congenital Nervous System Abnormality 28 0.034
385
LYM015 Lymphocytic Gastritis 28 0.034
386
CRB029 Cerebellopontine Angle Tumor 27 0.034
387
c BRT038 Baraitser-Winter Syndrome 1 27 0.034
388
c CHR117 Charcot-Marie-Tooth Neuropathy Type 4 27 0.034
389
c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 27 0.034
390
c CHR160 Chiari Malformation Type 2 27 0.034
391
INF005 Infiltrating Lipoma 27 0.034
392
FNT004 Fainting 27 0.034
393
PRN016 Peroneal Neuropathy 26 0.034
394
PLC006 Placental Choriocarcinoma 26 0.034
395
TYP017 Type 2n Von Willebrand Disease 26 0.034
396
c SVR057 Severe Hemophilia B 25 0.034
397
NRN022 Neurenteric Cyst 25 0.034
398
c RNG022 Ring Chromosome 6 25 0.034
399
CHR076 Choriocarcinoma of the Testis 25 0.034
400
c INH004 Inherited Blood Coagulation Disease 25 0.034
401
FTD001 Foot Drop 25 0.034
402
P ANT022 Anterior Cranial Fossa Meningioma 25 0.034
403
P MLD013 Mild Hemophilia a 24 0.034
404
TYP016 Type 2m Von Willebrand Disease 24 0.034
405
FGF001 Fgfr-Related Craniosynostosis Syndromes 24 0.034
406
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 24 0.034
407
FGS002 Fg Syndrome 2 24 0.034
408
MTR013 Motor Neuritis 23 0.034
409
ORB009 Orbit Lymphoma 23 0.034
410
c WGN005 Wagner Syndrome 1 23 0.034
411
CHR178 Chromosomal Triplication 23 0.034
412
c FRN037 Frontal Encephalocele 22 0.034
413
HPD003 Hip Dysplasia, Beukes Type 21 0.034
414
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 21 0.034
415
c VRL006 Viral Esophagitis 21 0.034
416
c ACQ043 Acquired Lipodystrophy 20 0.034
417
LYM023 Lymphatic System Cancer 20 0.034
418
INT076 Intracranial Sinus Thrombosis 20 0.034
419
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 19 0.034
420
MYL044 Myelocystocele 18 0.034
421
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 18 0.034
422
CNG102 Congenital Hypomyelination Neuropathy 18 0.034
423
PRT006 Partial Motor Epilepsy 17 0.034
424
PRS035 Parasitic Ichthyosporea Infectious Disease 17 0.034
425
SLT007 Solitary Rectal Ulcer Syndrome 16 0.034
426
EMR002 Emerinopathy 14 0.034
427
6QT002 6q Terminal Deletion Syndrome 9 0.034