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

677 hits were found for 'scoliosis'

# ++ Fam MCID Name MIFTS Score
1
P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 23 5.604
2
IDP013 Idiopathic Adolescent Scoliosis 20 4.560
3
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 16 4.078
4
SYN049 Synostosis - Microcephaly - Scoliosis 17 3.538
5
PRT084 Prata Libéral Gonçalves Syndrome 10 3.411
6
c RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 7 3.395
7
c FML126 Familial Horizontal Gaze Palsy with Progressive Scoliosis 8 3.343
8
ART092 Arthrogryposis - Severe Scoliosis 11 2.899
9
BLN015 Blindness - Scoliosis - Arachnodactyly 4 2.899
10
ACR027 Acrodysplasia Scoliosis 1 2.899
11
TLL004 Tall Stature - Scoliosis - Macrodactyly of the Great Toes 3 2.884
12
INF052 Infantile Scoliosis 8 2.576
13
c SCL030 Scoliosis, Idiopathic 1 6 2.423
14
SPN060 Spondylocarpotarsal Synostosis Syndrome 36 2.387
15
P SCL034 Scoliosis, Idiopathic 3 5 2.387
16
DNN006 Duane Anomaly - Myopathy - Scoliosis 9 2.372
17
OPT021 Opthalmoplegia Progressive External Scoliosis 0 2.372
18
RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0 2.372
19
SYN014 Syncamptodactyly Scoliosis 0 2.372
20
SCL028 Scoliosis with Unilateral Unsegmented Bar 5 2.355
21
c SCL031 Scoliosis, Idiopathic 2 4 2.355
22
c SCL039 Scoliosis, Idiopathic 4 3 2.355
23
HYP461 Hypocomplementemic Urticarial Vasculitis Syndrome 27 1.846
24
MCD001 Mac Dermot Winter Syndrome 16 1.810
25
HYP182 Hypertrichosis, Anterior Cervical 12 1.810
26
ISL037 Isolated Anterior Cervical Hypertrichosis 15 1.757
27
PLT011 Pilotto Syndrome 10 1.706
28
TSK001 Tsukahara Azuno Kajii Syndrome 4 1.706
29
CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 15 1.688
30
ESC002 Escobar Syndrome, Type B 3 1.665
31
IDK001 Iida Kannari Syndrome 1 1.665
32
P SYR001 Syringomyelia 52 0.158
33
SPN019 Spondylolisthesis 45 0.131
34
EVN001 Evans' Syndrome 50 0.128
35
OST006 Osteoblastoma 35 0.121
36
DST008 Diastematomyelia 27 0.118
37
ANK002 Ankylosing Spondylitis 75 0.108
38
PLM074 Pulmonary Function 38 0.108
39
MRF001 Marfan Syndrome 78 0.096
40
P PRD006 Prader-Willi Syndrome 69 0.096
41
SCN006 Secondary Syphilis 53 0.096
42
THR013 Thoracic Outlet Syndrome 53 0.096
43
SPR007 Superior Mesenteric Artery Syndrome 35 0.096
44
P ACR067 Acrodysostosis 2, with or Without Hormone Resistance 30 0.096
45
P RTT002 Rett Syndrome 75 0.092
46
c MSC005 Muscular Dystrophy 54 0.092
47
c CHR455 Chiari Malformations 38 0.092
48
HMH002 Hemihypertrophy 57 0.088
49
SPN027 Spinal Stenosis 53 0.088
50
P DST010 Distal Arthrogryposis Type 5 33 0.088
51
CNR017 Cone-Rod Dystrophy 9 19 0.088
52
GNG002 Ganglioneuroma 51 0.084
53
MYL020 Myelomeningocele 51 0.084
54
P ART087 Arthrogryposis with Oculomotor Limitation and Electroretinal Anomalies 21 0.084
55
ACN002 Acanthosis Nigricans 70 0.079
56
DCH001 Duchenne Muscular Dystrophy 70 0.079
57
c SPN046 Spinal Muscular Atrophy 60 0.079
58
P MSC003 Muscular Atrophy 51 0.079
59
RHY001 Rhyns Syndrome 45 0.079
60
NNT039 Neonatal Marfan Syndrome 27 0.079
61
c ART102 Arterial Calcification, Generalized, of Infancy, 2 13 0.079
62
c BRC049 Brachydactyly Type A1, B 7 0.079
63
P SHR002 Short Stature 64 0.074
64
c MCR010 Microcephaly 54 0.074
65
c MNT147 Mental Retardation 51 0.074
66
c RDL002 Radioulnar Synostosis 39 0.074
67
TRS007 Trismus-Pseudocamptodactyly Syndrome 34 0.074
68
SPN029 Spondylolysis 29 0.074
69
LRG009 Large-Related Muscle Diseases 11 0.074
70
P NRF002 Neurofibromatosis 86 0.068
71
P FRD001 Friedreich Ataxia 64 0.068
72
P RSP003 Respiratory Failure 60 0.068
73
P CNG030 Congenital Muscular Dystrophy 59 0.068
74
NRF007 Neurofibroma 51 0.068
75
P AML002 Amelogenesis Imperfecta 47 0.068
76
CNG043 Congenital Contractural Arachnodactyly 47 0.068
77
c MSC050 Muscular Dystrophy, Congenital, 1b 18 0.068
78
WST001 West Syndrome 64 0.062
79
c SYN005 Synostosis 51 0.062
80
c BRC006 Brachydactyly 48 0.062
81
HNM001 Hinman's Syndrome 28 0.062
82
CRK001 Cork-Handlers' Disease 28 0.062
83
P SCH009 Scheuermann's Disease 26 0.062
84
TFT003 Tufting Enteropathy 26 0.062
85
PCT001 Pectus Carinatum 22 0.062
86
ATX002 Ataxia Telangiectasia 81 0.056
87
PSY004 Psychotic Disorder 62 0.056
88
CRB037 Cerebral Palsy 58 0.056
89
NSY001 N Syndrome 57 0.056
90
P SHR029 Short Syndrome 55 0.056
91
P PRT008 Proteus Syndrome 55 0.056
92
P KLP003 Klippel-Feil Syndrome 48 0.056
93
CNR004 Cone-Rod Dystrophy 2 47 0.056
94
c ACR001 Aicardi-Goutieres Syndrome 46 0.056
95
c ATX010 Ataxia Neuropathy Spectrum 33 0.056
96
BDS002 Bod Syndrome 32 0.056
97
c MLG049 Malignant Syringoma 24 0.056
98
c CNG112 Congenital Muscular Dystrophy Type 1a 24 0.056
99
AND002 Androgen Insensitivity Syndrome 75 0.048
100
P OST012 Osteoarthritis 72 0.048
101
P TRN020 Turner Syndrome 71 0.048
102
P ANG001 Angelman Syndrome 67 0.048
103
P ALX003 Alexander Disease 64 0.048
104
ART019 Aortic Valve Stenosis 64 0.048
105
P MLT007 Multiple Epiphyseal Dysplasia 63 0.048
106
SPN038 Spina Bifida 63 0.048
107
P DWR001 Dwarfism 59 0.048
108
P CTS001 Cutis Laxa 59 0.048
109
CNT009 Central Core Myopathy 58 0.048
110
c BLN003 Blindness 54 0.048
111
SPN020 Spondylosis 53 0.048
112
c SYN001 Syndactyly 52 0.048
113
ANK001 Ankylosis 51 0.048
114
EXS001 Exostosis 49 0.048
115
P LRS001 Larsen Syndrome 49 0.048
116
P NRM005 Neuromuscular Disease 48 0.048
117
RDC002 Radiculopathy 46 0.048
118
P STS001 Sotos Syndrome 46 0.048
119
HYP265 Hypotonia 43 0.048
120
c PSD020 Pseudohypoaldosteronism Type Ii 43 0.048
121
FRM007 Freeman Sheldon Syndrome 43 0.048
122
QDR001 Quadriplegia 42 0.048
123
SPS007 Spastic Cerebral Palsy 41 0.048
124
P BRC031 Brachydactyly Type A1 33 0.048
125
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 31 0.048
126
MCR029 Micro Syndrome 31 0.048
127
P MCR044 Microcephalic Osteodysplastic Primordial Dwarfism Type 2 30 0.048
128
SCR033 Scar Contracture 27 0.048
129
SLH001 Salih Myopathy 26 0.048
130
MTP005 Metaphyseal Anadysplasia 25 0.048
131
SYR007 Syringohydromyelia 16 0.048
132
IDP062 Idiopathic Syringomyelia 7 0.048
133
P RFS001 Refsum Disease 73 0.039
134
P OST002 Osteoporosis 73 0.039
135
CST001 Costello Syndrome 71 0.039
136
P AST007 Astrocytoma 70 0.039
137
P RBN001 Rubinstein-Taybi Syndrome 68 0.039
138
P CNG026 Congenital Heart Defect 65 0.039
139
PTN002 Patent Ductus Arteriosus 61 0.039
140
KLP002 Klippel-Trenaunay Syndrome 60 0.039
141
ALP008 Alopecia 59 0.039
142
DST005 Diastrophic Dysplasia 58 0.039
143
SMT015 Smith Magenis Syndrome 58 0.039
144
GLD001 Goldenhar Syndrome 57 0.039
145
c AXN002 Axenfeld-Rieger Syndrome 57 0.039
146
P CMR001 Camurati-Engelmann Disease 57 0.039
147
c ATX004 Ataxia 56 0.039
148
MYC002 Mycobacterium Avium Complex Disease 56 0.039
149
ART031 Aortic Coarctation 56 0.039
150
THR009 Thrombocytopenia-Absent Radius Syndrome 55 0.039
151
LRN003 Learning Disability 54 0.039
152
P MTR005 Mitral Valve Prolapse 54 0.039
153
P CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 54 0.039
154
c VNT002 Ventricular Septal Defect 54 0.039
155
P PLY019 Polyneuropathy 54 0.039
156
DGN001 Degenerative Disc Disease 54 0.039
157
OST017 Osteomyelitis 53 0.039
158
c DST002 Distal Arthrogryposis 52 0.039
159
c MYP004 Myopathy 52 0.039
160
ART001 Arterial Tortuosity Syndrome 52 0.039
161
CNG046 Congenital Fiber-Type Disproportion 52 0.039
162
ARC002 Arachnoiditis 51 0.039
163
FBR009 Fibrous Dysplasia 51 0.039
164
SNG010 Single Median Maxillary Central Incisor 50 0.039
165
HYP068 Hyperostosis 50 0.039
166
P PND001 Pain Disorder 49 0.039
167
TLP001 Talipes Equinovarus 49 0.039
168
c SPN016 Spondylocostal Dysostosis 49 0.039
169
P THR090 Thrombocythemia 1 48 0.039
170
P SPN008 Spondyloepiphyseal Dysplasia Congenita 47 0.039
171
CNR002 Cone-Rod Dystrophy 46 0.039
172
CHY002 Chylomicron Retention Disease 46 0.039
173
AMB002 Amblyopia 46 0.039
174
c OPH004 Ophthalmoplegia 46 0.039
175
c DMY001 Demyelinating Polyneuropathy 45 0.039
176
c TYP003 Type I Ehlers-Danlos Syndrome 45 0.039
177
PRN038 Prune Belly Syndrome 44 0.039
178
P CRV043 Cervical Dystonia 44 0.039
179
ALX002 Alexithymia 43 0.039
180
DBW001 Dubowitz Syndrome 42 0.039
181
DNR001 Duane Retraction Syndrome 41 0.039
182
c TYP002 Type Vi Ehlers-Danlos Syndrome 40 0.039
183
SCH016 Schimke Immunoosseous Dysplasia 40 0.039
184
INC001 Incontinentia Pigmenti Achromians 39 0.039
185
HTS001 Hiatus Hernia 39 0.039
186
MSS002 Mass Syndrome 37 0.039
187
TTR016 Tetra-Amelia Syndrome 36 0.039
188
P CHR288 Chronic Recurrent Multifocal Osteomyelitis 36 0.039
189
SPS004 Spastic Quadriplegia 36 0.039
190
GLD002 Goldberg-Shprintzen Megacolon Syndrome 35 0.039
191
OCL014 Oculofaciocardiodental Syndrome 35 0.039
192
PST020 Postpoliomyelitis Syndrome 35 0.039
193
SCH024 Schinzel Giedion Syndrome 35 0.039
194
P ART045 Arthrogryposis Multiplex Congenita Distal Type 1 34 0.039
195
FRN012 Frontometaphyseal Dysplasia 32 0.039
196
STV003 Stuve-Wiedemann Syndrome 31 0.039
197
c MCP012 Mucopolysaccharidosis Ih 28 0.039
198
ALN001 Aland Island Eye Disease 27 0.039
199
LMB014 Limb-Body Wall Complex 27 0.039
200
ZMM001 Zimmermann-Laband Syndrome 27 0.039
201
DSB001 Desbuquois Syndrome 27 0.039
202
SPN147 Spondylometaphyseal Dysplasia Kozlowski Type 27 0.039
203
P KBK002 Kabuki Syndrome 1 27 0.039
204
PRX014 Proximal Spinal Muscular Atrophy 27 0.039
205
P BRC048 Bruck Syndrome 2 26 0.039
206
INS008 Insulin-Like Growth Factor I Deficiency 25 0.039
207
SPN221 Spina Bifida Occulta 25 0.039
208
PRS051 Parastremmatic Dwarfism 24 0.039
209
P BRC045 Brachyolmia Type 3 23 0.039
210
P DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 23 0.039
211
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 21 0.039
212
ATM021 Autoimmune Inner Ear Disease 20 0.039
213
P SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 19 0.039
214
c CHR094 Chronic Polyneuropathy 18 0.039
215
NVS012 Nevus Comedonicus Syndrome 17 0.039
216
P CNG123 Congenital Radio-Ulnar Synostosis 16 0.039
217
WCK003 Wieacker-Wolf Syndrome 16 0.039
218
OPT032 Optic Pathway Glioma 16 0.039
219
EHL014 Ehlers-Danlos Syndrome Kyphoscoliotic Type 14 0.039
220
SPR038 Supranuclear Ocular Palsy 12 0.039
221
SCN048 Secondary Syringomyelia 11 0.039
222
c DST050 Distal Arthrogryposis Type 10 11 0.039
223
ATS129 Autosomal Dominant Multiple Pterygium Syndrome 8 0.039
224
CYS001 Cystic Fibrosis 91 0.028
225
P AMY001 Amyotrophic Lateral Sclerosis 87 0.028
226
P RTN008 Retinitis Pigmentosa 76 0.028
227
P LBR001 Leber Congenital Amaurosis 74 0.028
228
P SMT004 Smith-Lemli-Opitz Syndrome 72 0.028
229
NRL016 Neural Tube Defects 69 0.028
230
P OST005 Osteogenesis Imperfecta 69 0.028
231
RNL002 Renal Agenesis 68 0.028
232
THY014 Thyroid Medullary Carcinoma 68 0.028
233
CLD001 Cleidocranial Dysplasia 68 0.028
234
FBR011 Fibrodysplasia Ossificans Progressiva 66 0.028
235
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.028
236
P PLZ001 Pelizaeus-Merzbacher Disease 66 0.028
237
MLG056 Malignant Hyperthermia 66 0.028
238
P STH001 Saethre-Chotzen Syndrome 65 0.028
239
P RCK004 Rickets 65 0.028
240
c HMP007 Hemophilia 64 0.028
241
STT001 Status Epilepticus 64 0.028
242
NRR002 Norrie Disease 64 0.028
243
SPN186 Spinal Cord Injury 63 0.028
244
DSM004 Desmoid Tumor 63 0.028
245
P RTH001 Rothmund-Thomson Syndrome 63 0.028
246
HYP042 Hypochondroplasia 62 0.028
247
OLL001 Ollier Disease 62 0.028
248
P BCK002 Beckwith-Wiedemann Syndrome 62 0.028
249
HMN010 Hemangioma 62 0.028
250
P CRD013 Cardiofaciocutaneous Syndrome 61 0.028
251
OCL005 Oculocerebrorenal Syndrome 61 0.028
252
P CHR071 Charcot-Marie-Tooth Disease 61 0.028
253
CFF002 Coffin-Lowry Syndrome 60 0.028
254
BRN029 Brain Disease 60 0.028
255
c MPL001 Maple Syrup Urine Disease 60 0.028
256
c MCP001 Mucopolysaccharidosis Iii 59 0.028
257
ALB001 Albright's Hereditary Osteodystrophy 59 0.028
258
P VCT001 Vacterl Association 59 0.028
259
P OST001 Osteopetrosis 59 0.028
260
SHW002 Shwachman-Diamond Syndrome 58 0.028
261
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 0.028
262
P VLC001 Velocardiofacial Syndrome 57 0.028
263
OCC006 Occipital Horn Syndrome 57 0.028
264
VNS009 Venous Thrombosis 56 0.028
265
CLB001 Coloboma 56 0.028
266
FCL009 Focal Dermal Hypoplasia 56 0.028
267
P CMP005 Campomelic Dysplasia 56 0.028
268
P NNN008 Noonan Syndrome 1 56 0.028
269
HLT001 Holt-Oram Syndrome 55 0.028
270
SNS001 Sensorineural Hearing Loss 55 0.028
271
CDL003 Caudal Regression Syndrome 55 0.028
272
PSD012 Pseudoachondroplasia 55 0.028
273
c EHL001 Ehlers-Danlos Syndrome 55 0.028
274
P CNG001 Congenital Myasthenic Syndrome 55 0.028
275
LDD001 Ladd Syndrome 54 0.028
276
HYP458 Hyper Ige Syndrome 54 0.028
277
ESP020 Esophageal Atresia 54 0.028
278
TTH006 Tooth Disease 54 0.028
279
CHR103 Charge Syndrome 53 0.028
280
P OMP004 Omphalocele 53 0.028
281
P MLG077 Malignant Peripheral Nerve Sheath Tumor 53 0.028
282
RTN023 Retinitis 53 0.028
283
c TRT010 Teratoma 53 0.028
284
P STR020 Strabismus 53 0.028
285
GRW007 Growth Hormone Deficiency 52 0.028
286
P EPL002 Epilepsy Syndrome 52 0.028
287
P CLL015 Collagen Disease 52 0.028
288
P MTP001 Metaphyseal Dysplasia 52 0.028
289
MTT005 Matthew-Wood Syndrome 52 0.028
290
WLF002 Wolf-Hirschhorn Syndrome 51 0.028
291
c GGN002 Gigantism 51 0.028
292
P WVR001 Weaver Syndrome 51 0.028
293
FNC044 Fanconi Anemia, Complementation Group C 51 0.028
294
LPM004 Lipoma 51 0.028
295
MYL001 Myelitis 51 0.028
296
HMN016 Hemangioendothelioma 51 0.028
297
c TRM003 Tremor 50 0.028
298
HJD001 Hajdu-Cheney Syndrome 50 0.028
299
LPC002 Lip Cancer 50 0.028
300
WLL003 Williams Syndrome 50 0.028
301
c EHL021 Ehlers-Danlos Syndrome Type Viib 50 0.028
302
CRT002 Cartilage-Hair Hypoplasia 50 0.028
303
WGR001 Wagr Syndrome 50 0.028
304
OBS006 Obstructive Lung Disease 49 0.028
305
JCB001 Jacobsen Syndrome 49 0.028
306
PSD009 Pseudohermaphroditism 49 0.028
307
FTL009 Fetal Akinesia Deformation Sequence 49 0.028
308
OST028 Osteochondroma 49 0.028
309
P NML001 Nemaline Myopathy 48 0.028
310
P DYS021 Dysautonomia 48 0.028
311
c CTR002 Cataract 48 0.028
312
OST016 Osteochondrosis 48 0.028
313
c RTN014 Retinal Artery Occlusion 47 0.028
314
HMP005 Hemiplegia 47 0.028
315
ACR012 Aicardi Syndrome 47 0.028
316
CFF001 Coffin-Siris Syndrome 47 0.028
317
CVR006 Cavernous Hemangioma 47 0.028
318
WBR001 Weber Syndrome 47 0.028
319
P CNT028 Central Retinal Artery Occlusion 47 0.028
320
OST024 Osteoporosis-Pseudoglioma Syndrome 47 0.028
321
P SJG002 Sjogren-Larsson Syndrome 47 0.028
322
IMP002 Imperforate Anus 47 0.028
323
SLY001 Sly Syndrome 47 0.028
324
ALL001 Allan-Herndon-Dudley Syndrome 47 0.028
325
P CWD006 Cowden Syndrome 1 46 0.028
326
CHN015 Chondrodysplasia 46 0.028
327
LMB052 Lumbar Disc Herniation 46 0.028
328
WLL001 Williams-Beuren Syndrome 46 0.028
329
P CHR095 Chronic Progressive External Ophthalmoplegia 46 0.028
330
BCK006 Back Pain 46 0.028
331
CRN005 Craniofrontonasal Syndrome 46 0.028
332
P CNG052 Congenital Amegakaryocytic Thrombocytopenia 45 0.028
333
DYS018 Dysostosis 45 0.028
334
PTS001 Patau Syndrome 45 0.028
335
3MS001 3-M Syndrome 45 0.028
336
c MCP004 Mucopolysaccharidosis Iv 45 0.028
337
BLL001 Baller-Gerold Syndrome 45 0.028
338
P JBR004 Joubert Syndrome 2 45 0.028
339
LPM005 Lipomatosis 45 0.028
340
CFF003 Caffey Disease 44 0.028
341
CHN016 Cohen Syndrome 44 0.028
342
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44 0.028
343
P KNS001 Kniest Dysplasia 44 0.028
344
NRN008 Neuronal Intranuclear Inclusion Disease 44 0.028
345
RHZ002 Rhizomelic Chondrodysplasia Punctata Type 1 44 0.028
346
FCL012 Facial Paralysis 44 0.028
347
GNG005 Gangliocytoma 44 0.028
348
1P3001 1p36 Deletion Syndrome 44 0.028
349
TRC040 Tracheoesophageal Fistula 44 0.028
350
BLC003 Bloch-Sulzberger Syndrome 44 0.028
351
ASP002 Aspartylglucosaminuria 43 0.028
352
PLX002 Plexiform Neurofibroma 43 0.028
353
GNG008 Ganglioneuroblastoma 43 0.028
354
RLY001 Riley-Day Syndrome 43 0.028
355
c ACR013 Acrodysostosis 42 0.028
356
P BLP003 Blepharospasm 42 0.028
357
CCH002 Coach Syndrome 42 0.028
358
OST044 Osteoglophonic Dysplasia 42 0.028
359
CHR101 Char Syndrome 42 0.028
360
RVL002 Ruvalcaba Syndrome 42 0.028
361
22Q001 22q11.2 Duplication 42 0.028
362
CNG045 Congenital Dyserythropoietic Anemia Type I 41 0.028
363
P STC005 Stickler Syndrome Type 1 41 0.028
364
FCL022 Focal Dystonia 41 0.028
365
P MYK002 Myokymia 40 0.028
366
P DYS142 Dyskeratosis Congenita, Autosomal Recessive 4 40 0.028
367
ATX019 Ataxia with Vitamin E Deficiency 40 0.028
368
PLG004 Plagiocephaly 40 0.028
369
HYP030 Hypoactive Sexual Desire Disorder 39 0.028
370
c LPR012 Leopard Syndrome 1 39 0.028
371
AND003 Andersen-Tawil Syndrome 39 0.028
372
EPD005 Epidural Abscess 39 0.028
373
PRT093 Proteus Syndrome, Somatic 39 0.028
374
ULL001 Ullrich Congenital Muscular Dystrophy 38 0.028
375
MJD001 Majeed Syndrome 38 0.028
376
IDP002 Idiopathic Juvenile Osteoporosis 38 0.028
377
HYP149 Hyperglycerolemia 38 0.028
378
c WRD005 Waardenburg Syndrome Type I 38 0.028
379
P MNN007 Meningocele 38 0.028
380
CTS011 Cutis Marmorata Telangiectatica Congenita 37 0.028
381
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 37 0.028
382
P KLF001 Kleefstra Syndrome 37 0.028
383
MLN014 Melnick-Needles Syndrome 37 0.028
384
PLN006 Poland Syndrome 36 0.028
385
P LYS005 Loeys-Dietz Syndrome Type 1a 36 0.028
386
c PTR004 Pterygium 36 0.028
387
c JBR026 Joubert Syndrome 15 35 0.028
388
HRD088 Hereditary Neuropathies 35 0.028
389
c JVN006 Juvenile Spinal Muscular Atrophy 34 0.028
390
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 34 0.028
391
XLN017 X-Linked Spondyloepiphyseal Dysplasia Tarda 34 0.028
392
OTP004 Oto-Palato-Digital Syndrome Type 1 34 0.028
393
YNG002 Young Syndrome 34 0.028
394
OTP005 Oto-Palato-Digital Syndrome Type 2 34 0.028
395
ARC004 Arc Syndrome 34 0.028
396
P RBN011 Robinow Syndrome, Autosomal Dominant 34 0.028
397
KPS002 Kaposiform Hemangioendothelioma 34 0.028
398
LJN002 Lujan Syndrome 34 0.028
399
AMN009 Amniotic Band Syndrome 34 0.028
400
OCH001 Ochronosis 33 0.028
401
c CHR024 Charcot-Marie-Tooth Disease Type 3 33 0.028
402
FCS005 Faces Syndrome 33 0.028
403
CRN077 Cranio Osteoarthropathy 33 0.028
404
P SPN121 Spondylocostal Dysostosis 1 33 0.028
405
DYG002 Dyggve-Melchior-Clausen Syndrome 32 0.028
406
ANG017 Angiolipoma 32 0.028
407
c TRC004 Trichorhinophalangeal Syndrome Type I 32 0.028
408
P EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 32 0.028
409
P CHR269 Chromosome 9p Deletion 32 0.028
410
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 32 0.028
411
ADS002 Adie Syndrome 32 0.028
412
TGH001 Tight Skin Contracture Syndrome, Lethal 31 0.028
413
TTH001 Tooth Ankylosis 31 0.028
414
P MRN007 Marinesco-Sjögren Syndrome 31 0.028
415
GRD005 Geroderma Osteodysplasticum 31 0.028
416
P BRT038 Baraitser-Winter Syndrome 1 31 0.028
417
P GM1003 Gm1 Gangliosidosis Type 3 31 0.028
418
LYM005 Lymphocele 31 0.028
419
c OST108 Osteogenesis Imperfecta Type Xiii 31 0.028
420
OLV002 Oliver Syndrome 31 0.028
421
P SLD005 Sialidosis Type I 31 0.028
422
MLT054 Multiple Pterygium Syndrome Escobar Type 30 0.028
423
c JBR007 Joubert Syndrome with Renal Anomalies 30 0.028
424
TTH004 Tethered Spinal Cord Syndrome 30 0.028
425
P WRB002 Warburg Micro Syndrome 1 29 0.028
426
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 29 0.028
427
c RBN009 Robinow Syndrome, Autosomal Recessive 29 0.028
428
CRS006 Crisponi Syndrome 29 0.028
429
P EXS004 Exostoses, Multiple, Type 1 29 0.028
430
SCH035 Schwartz Jampel Syndrome Type 1 29 0.028
431
CNG065 Congenital Contractures 29 0.028
432
EHL012 Ehlers-Danlos Syndrome Dermatosparaxis Type 29 0.028
433
P HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 29 0.028
434
ACR011 Acromesomelic Dysplasia, Maroteaux Type 28 0.028
435
INT003 Intracranial Hypotension 28 0.028
436
ANT013 Anterior Spinal Artery Syndrome 28 0.028
437
17Q002 17q23.1q23.2 Microdeletion Syndrome 28 0.028
438
12Q002 12q14 Microdeletion Syndrome 28 0.028
439
SPN018 Spinal Cord Astrocytoma 28 0.028
440
c JBR024 Joubert Syndrome 14 28 0.028
441
MRS004 Marshall-Smith Syndrome 28 0.028
442
SHP002 Shprintzen-Goldberg Syndrome 27 0.028
443
P SCK023 Seckel Syndrome Type 1 27 0.028
444
MNT003 Mental Retardation in Cri-Du-Chat Syndrome 27 0.028
445
LRW002 Leri Weill Dyschondrosteosis 27 0.028
446
XLN011 X-Linked Centronuclear Myopathy 27 0.028
447
NNT023 Neonatal Progeroid Syndrome 27 0.028
448
EHL006 Ehlers–danlos Syndrome 27 0.028
449
OST098 Osteopathia Striata Cranial Sclerosis 27 0.028
450
MTT002 Metatropic Dysplasia 26 0.028
451
CTL001 Catel Manzke Syndrome 26 0.028
452
P PRR020 Perrault Syndrome 1 26 0.028
453
PRD015 Proud Levine Carpenter Syndrome 26 0.028
454
RGD001 Rigid Spine Syndrome 26 0.028
455
MRT007 Martsolf Syndrome 26 0.028
456
c STS008 Sotos Syndrome 1 26 0.028
457
c MRD002 Marden-Walker Syndrome 26 0.028
458
GRM003 German Syndrome 26 0.028
459
LTR009 Lateral Meningocele Syndrome 26 0.028
460
PRG045 Progressive Pseudorheumatoid Arthropathy of Childhood 25 0.028
461
c FML034 Familial Dystonia 25 0.028
462
LRW003 L�ri-Weill Dyschondrosteosis 25 0.028
463
P SCH023 Schindler Disease, Type 1 25 0.028
464
MTC064 Mitochondrial Myopathy and Sideroblastic Anemia 1 25 0.028
465
P KLN006 Koolen-De Vries Syndrome 25 0.028
466
PSD050 Pseudoxanthoma Elasticum, Forme Fruste 25 0.028
467
FMR006 Femoral Facial Syndrome 24 0.028
468
PPM001 Ppm-X Syndrome 24 0.028
469
c BRC038 Brachydactyly Type B 24 0.028
470
AXL004 Axial Mesodermal Dysplasia Spectrum 24 0.028
471
c 4Q2001 4q21 Microdeletion Syndrome 24 0.028
472
c CHR209 Chromosome 17p Duplication 24 0.028
473
P KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 24 0.028
474
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 24 0.028
475
NCL003 Nicolaides Baraitser Syndrome 24 0.028
476
WTS001 Watson Syndrome 23 0.028
477
16Q001 16q24.3 Microdeletion Syndrome 23 0.028
478
P MSC020 Mosaic Trisomy 8 23 0.028
479
BCK017 Becker's Nevus 23 0.028
480
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 23 0.028
481
14Q001 14q12 Microdeletion Syndrome 23 0.028
482
RCK007 Rickets, Vitamin D-Resistant, Type Iia 23 0.028
483
CWC001 Cowchock Syndrome 23 0.028
484
PNT005 Pentalogy of Cantrell 22 0.028
485
GNT026 Gnathodiaphyseal Dysplasia 22 0.028
486
15Q002 15q24 Microdeletion Syndrome 22 0.028
487
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.028
488
ABS007 Absent Patella 22 0.028
489
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 22 0.028
490
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 21 0.028
491
ACR034 Acrogeria, Gottron Type 21 0.028
492
SLP010 Slipped Capital Femoral Epiphysis 21 0.028
493
P DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 21 0.028
494
JBR008 Juberg-Hayward Syndrome 21 0.028
495
NRP016 Neuropathy, Recurrent, with Pressure Palsies 21 0.028
496
48X003 48,xxyy Syndrome 21 0.028
497
SYN016 Syndactyly Cenani Lenz Type 21 0.028
498
GGN004 Gigantomastia 21 0.028
499
FNL001 Fine-Lubinsky Syndrome 21 0.028
500
c ORF007 Orofaciodigital Syndrome 2 20 0.028
501
IVC001 Ivic Syndrome 20 0.028
502
TRC037 Tracheobronchomalacia 20 0.028
503
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 20 0.028
504
c MNN025 Mannosidosis, Alpha-, Types I and Ii 20 0.028
505
17P001 17p11.2 Microduplication Syndrome 20 0.028
506
ATL010 Atlantoaxial Subluxation 19 0.028
507
ASS002 Aase-Smith Syndrome 19 0.028
508
P 19P001 19p13.12 Microdeletion Syndrome 19 0.028
509
TRT006 Torticollis Keloids Cryptorchidism Renal Dysplasia 19 0.028
510
NLX001 Neu Laxova Syndrome 19 0.028
511
MSC011 Muscular Dystrophy, Duchenne and Becker Types 19 0.028
512
LNZ002 Lenz Majewski Hyperostotic Dwarfism 19 0.028
513
c SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 19 0.028
514
INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 19 0.028
515
c SPR036 Supernumerary Nipples 19 0.028
516
MTP006 Metaphyseal Chondrodysplasia Spahr Type 18 0.028
517
c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 18 0.028
518
CRB076 Cerebro Facio Thoracic Dysplasia 18 0.028
519
SPN145 Spondylometaphyseal Dysplasia Corner Fracture Type 18 0.028
520
CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 18 0.028
521
P JVN020 Juvenile-Onset Dystonia 18 0.028
522
FNT003 Fountain Syndrome 17 0.028
523
ARD001 Aredyld 17 0.028
524
c ADL057 Adult Teratoma 17 0.028
525
P AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 17 0.028
526
LTH004 Lathyrism 17 0.028
527
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 17 0.028
528
RCM004 Recombinant 8 Syndrome 17 0.028
529
P SYM008 Symphalangism Distal 17 0.028
530
c BNG076 Benign Exophthalmos Syndrome 17 0.028
531
P HYD034 Hydromyelia 16 0.028
532
P PPL046 Popliteal Pterygium Syndrome 1 16 0.028
533
NVR001 Nievergelt Syndrome 16 0.028
534
MGL019 Megalocornea-Intellectual Deficit Syndrome 16 0.028
535
MXL012 Maxillo-Nasal Dysplasia 16 0.028
536
SHP004 Shprintzen Omphalocele Syndrome 16 0.028
537
P SPN181 Spondylocostal Dysostosis, Autosomal Dominant 16 0.028
538
c CHR248 Chromosome 4p Duplication 16 0.028
539
SPN140 Spondyloepiphyseal Dysplasia Tarda Toledo Type 16 0.028
540
c CNG129 Congenital Torticollis 16 0.028
541
GNT017 Genito Palato Cardiac Syndrome 16 0.028
542
CHR213 Chromosome 18p Tetrasomy 16 0.028
543
MCD002 Mcdonough Syndrome 16 0.028
544
BWN004 Bowing of Legs, Anterior with Dwarfism 16 0.028
545
c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 16 0.028
546
2P1002 2p15p16.1 Microdeletion Syndrome 16 0.028
547
PSD045 Pseudoprogeria Syndrome 15 0.028
548
CRB064 Cerebelloparenchymal Disorder 3 15 0.028
549
PSD030 Pseudodiastrophic Dysplasia 15 0.028
550
MTP004 Metaphyseal Acroscyphodysplasia 15 0.028
551
P 49X002 49,xxxxy Syndrome 15 0.028
552
CMP024 Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 15 0.028
553
RRD001 Reardon Wilson Cavanagh Syndrome 15 0.028
554
CNG118 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 15 0.028
555
c LBR020 Leber Hereditary Optic Neuropathy with Dystonia 15 0.028
556
c XLN102 X-Linked Charcot-Marie-Tooth Disease Type 3 15 0.028
557
CDS002 Codas Syndrome 15 0.028
558
c MSC021 Mosaic Trisomy 9 15 0.028
559
ACR002 Acrocapitofemoral Dysplasia 14 0.028
560
CNJ001 Conjugate Gaze Palsy 14 0.028
561
P ISC010 Isochromosome Yp 14 0.028
562
WLS004 Wilson-Turner Syndrome 14 0.028
563
PCH008 Pachygyria - Epilepsy - Intellectual Deficit - Dysmorphism 14 0.028
564
ACR030 Acrofacial Dysostosis Palagonia Type 14 0.028
565
ICH008 Ichthyosis Cheek Eyebrow Syndrome 14 0.028
566
KSK001 Kuskokwim Disease 14 0.028
567
SPN144 Spondylometaphyseal Dysplasia Algerian Type 14 0.028
568
BKS001 Beukes Familial Hip Dysplasia 14 0.028
569
CRV066 Cervical Aortic Arch 14 0.028
570
OCL055 Oculo-Palato-Cerebral Syndrome 14 0.028
571
HLL011 Hall-Riggs Syndrome 14 0.028
572
ALP054 Alopecia-Intellectual Deficit Syndrome 14 0.028
573
ACR069 Acro-Renal-Mandibular Syndrome 14 0.028
574
LRP001 Leri Pleonosteosis 14 0.028
575
P SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 14 0.028
576
c XLN104 X-Linked Charcot-Marie-Tooth Disease Type 2 14 0.028
577
BRD023 Bird Headed Dwarfism Montreal Type 14 0.028
578
c EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 14 0.028
579
FLY002 Flynn Aird Syndrome 13 0.028
580
c MLT114 Multiple Ventricular Septal Defects 13 0.028
581
c MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 13 0.028
582
SKL018 Skeletal Dysplasia - Intellectual Deficit 13 0.028
583
CRN049 Craniolenticulosutural Dysplasia 13 0.028
584
SYB001 Say Barber Miller Syndrome 13 0.028
585
RCH003 Richieri Costa Da Silva Syndrome 13 0.028
586
c CHR270 Chromosome 9p Duplication 13 0.028
587
DRM020 Dermatoosteolysis Kirghizian Type 13 0.028
588
c HTR007 Heterotopia, Periventricular, Ed Variant 13 0.028
589
CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 13 0.028
590
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 13 0.028
591
c DST072 Distal Monosomy 6p 13 0.028
592
FBR026 Fibromatosis Multiple Non Ossifying 12 0.028
593
HRR001 Harrod Doman Keele Syndrome 12 0.028
594
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 12 0.028
595
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 12 0.028
596
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12 0.028
597
FLT008 Flat Face - Microstomia - Ear Anomaly 12 0.028
598
TRC081 Tricho-Oculo-Dermo-Vertebral Syndrome 12 0.028
599
PRX069 Proximal 16p11.2 Microdeletion Syndrome 12 0.028
600
SKL019 Skeletal Dysplasia - Epilepsy - Short Stature 12 0.028
601
JRG001 Jorgenson Lenz Syndrome 12 0.028
602
RZN001 Rozin Hertz Goodman Syndrome 12 0.028
603
c SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 12 0.028
604
MCR042 Microbrachycephaly Ptosis Cleft Lip 12 0.028
605
CPR003 Cooper-Jabs Syndrome 12 0.028
606
INT172 Intellectual Deficit, Wolff Type 12 0.028
607
c DYS092 Dystonia, Primary Cervical 12 0.028
608
ACR077 Acro-Oto-Ocular Syndrome 12 0.028
609
LNR012 Linear Verrucous Nevus Syndrome 12 0.028
610
MCR224 Microcephaly and Chorioretinopathy with or Without Mental Retardation 12 0.028
611
TLH001 Tel Hashomer Camptodactyly Syndrome 12 0.028
612
MNT190 Mental Retardation, X-Linked Syndromic, Fried Type 11 0.028
613
SPN245 Spondylocostal Dysostosis - Anal and Genitourinary Malformations 11 0.028
614
INT167 Intellectual Deficit, X-Linked - Seizures - Psoriasis 11 0.028
615
NNR005 Non-Rhizomelic Chondrodysplasia Punctata 11 0.028
616
NND003 Non-Distal Trisomy 10q 11 0.028
617
INT170 Intellectual Deficit - Cataracts - Calcified Pinnae - Myopathy 11 0.028
618
c 1Q4001 1q44 Microdeletion Syndrome 11 0.028
619
OCL043 Oculorenocerebellar Syndrome 11 0.028
620
c PST040 Posterior Column Ataxia 11 0.028
621
c CHR252 Chromosome 5p Duplication 11 0.028
622
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 11 0.028
623
SBR006 Subaortic Stenosis Short Stature Syndrome 11 0.028
624
SLL006 Sillence Syndrome 11 0.028
625
FNG008 Finger Locking Recurrent with Intrauterine Growth Retardation and Proportionate Short Stature 10 0.028
626
48X002 48,xxxy Syndrome 10 0.028
627
ALP053 Alopecia - Contractures - Dwarfism - Intellectual Deficit 10 0.028
628
BRC044 Brachyolmia Type 1 Hobaek Type 10 0.028
629
SPN120 Spondylocamptodactyly 10 0.028
630
DST055 Distal 22q11.2 Microduplication Syndrome 10 0.028
631
BRD042 Braddock Syndrome 10 0.028
632
DYS134 Dysspondyloenchondromatosis 10 0.028
633
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 10 0.028
634
DSH001 Daish Hardman Lamont Syndrome 10 0.028
635
INT200 Intellectual Deficit, X-Linked, Siderius Type 9 0.028
636
15Q003 15q14 Microdeletion Syndrome 9 0.028
637
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 9 0.028
638
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 9 0.028
639
c INT018 Intermediate Spinal Muscular Atrophy 9 0.028
640
VLJ001 Viljoen Kallis Voges Syndrome 9 0.028
641
AXL005 Axial Osteosclerosis 9 0.028
642
c KBK003 Kabuki Syndrome 2 9 0.028
643
MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 9 0.028
644
CLF019 Cleft Palate Short Stature Vertebral Anomalies 9 0.028
645
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 9 0.028
646
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 9 0.028
647
PLY032 Polydactyly Postaxial Dental and Vertebral 9 0.028
648
BTT004 Battaglia Neri Syndrome 9 0.028
649
OST029 Osteodysplasia Familial Anderson Type 9 0.028
650
INT193 Intellectual Deficit, X-Linked, Abidi Type 9 0.028
651
MLT099 Multiple Epiphyseal Dysplasia, Lowry Type 9 0.028
652
LRS006 Larsen-Like Osseous Dysplasia - Short Stature 9 0.028
653
MTP019 Metaphyseal Dysostosis - Intellectual Deficit - Conductive Deafness 9 0.028
654
c ART039 Arthrogryposis Due to Muscular Dystrophy 8 0.028
655
VNB001 Van Benthem-Driessen-Hanveld Syndrome 8 0.028
656
PNH003 Pinheiro Freire-Maia Miranda Syndrome 8 0.028
657
INT201 Intellectual Deficit, X-Linked, Vitale Type 8 0.028
658
LTH005 Lethal Chondrodysplasia Moerman Type 8 0.028
659
SHL002 Shoulder and Thorax Deformity Congenital Heart Disease 8 0.028
660
NGH011 Night Blindness - Skeletal Anomalies - Dysmorphism 8 0.028
661
STL004 Stoll Alembik Finck Syndrome 7 0.028
662
LGB001 Leg Absence Deformity Cataract 7 0.028
663
PRM137 Primary Hypergonadotropic Hypogonadism - Partial Alopecia 7 0.028
664
MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 7 0.028
665
CRT029 Cortada Koussef Matsumoto Syndrome 7 0.028
666
INT225 Intellectual Deficit - Athetosis - Microphthalmia 7 0.028
667
MYP020 Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia 7 0.028
668
SYM014 Symbrachydactyly of Hands and Feet 7 0.028
669
ECT052 Ectodermal Dysplasia - Sensorineural Deafness 7 0.028
670
c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 7 0.028
671
MCR049 Microcephaly Deafness Syndrome 7 0.028
672
SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 6 0.028
673
FRY005 Fryns Smeets Thiry Syndrome 6 0.028
674
OST103 Osteochondrodysplatic Nanism - Deafness - Retinitis Pigmentosa 6 0.028
675
INT204 Intellectual Deficit, X-Linked - Hypogammaglobulinemia - Progressive Neurological Deterioration 5 0.028
676
EHL007 Ehlers–danlos Syndrome Kyphoscoliosis Type 5 0.028
677
PRC041 Pericardial and Diaphragmatic Defect 4 0.028