Search results for "short stature"

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

2020 hits were found for 'short stature'

# Family MCID Name MIFTS Score
1
P SHR029 Short Syndrome 60 4.750
2
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 3.462
3
SHR042 Short Stature, Idiopathic Familial 27 3.456
4
P MRG008 Meier-Gorlin Syndrome 1 46 3.436
5
ECT073 Ectodermal Dysplasia/short Stature Syndrome 19 3.431
6
KBG001 Kbg Syndrome 50 3.202
7
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 30 3.187
8
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 25 2.935
9
c MNT109 Mental Retardation, X-Linked, Syndromic 15 30 2.924
10
MYH012 Myhre Syndrome 37 2.919
11
FLS001 Fils Syndrome 28 2.913
12
OST076 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 18 2.913
13
SHR023 Short Stature Syndrome, Brussels Type 15 2.913
14
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 19 2.910
15
HYP648 Hypertension and Brachydactyly Syndrome 25 2.904
16
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 15 2.623
17
P MCR235 Microcephaly, Short Stature, and Impaired Glucose Metabolism 18 2.620
18
PRG023 Progeroid Short Stature with Pigmented Nevi 17 2.618
19
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 18 2.618
20
SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 21 2.613
21
3MS007 3-M Syndrome 1 42 2.613
22
WDM004 Wiedemann-Steiner Syndrome 40 2.611
23
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 15 2.607
24
CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 12 2.601
25
MCR072 Microdontia Hypodontia Short Stature 3 2.418
26
ALG003 Al Gazali Aziz Salem Syndrome 12 2.398
27
SBR011 Subaortic Stenosis--Short Stature Syndrome 15 2.288
28
GMS002 Gms Syndrome 21 2.280
29
DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15 2.278
30
SHR065 Short Stature with Microcephaly and Distinctive Facies 14 2.264
31
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 2.263
32
CHP002 Chops Syndrome 36 2.262
33
STL007 Steel Syndrome 31 2.262
34
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 15 2.262
35
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 25 2.255
36
PTT044 Pituitary Hormone Deficiency, Combined, 4 28 2.248
37
c MCR228 Microphthalmia, Syndromic 13 22 2.245
38
LRN004 Laron Dwarfism 58 1.910
39
AYM001 Ayme-Gripp Syndrome 40 1.897
40
P CFF001 Coffin-Siris Syndrome 55 1.882
41
EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 14 1.874
42
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 1.874
43
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 16 1.870
44
FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 11 1.868
45
CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 10 1.868
46
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 6 1.868
47
CLF019 Cleft Palate Short Stature Vertebral Anomalies 12 1.866
48
MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 13 1.866
49
MTP004 Metaphyseal Acroscyphodysplasia 19 1.865
50
DNT045 Dental Anomalies and Short Stature 29 1.864
51
GRW026 Growth Hormone Insensitivity, Partial 23 1.862
52
SHR084 Short Stature with Nonspecific Skeletal Abnormalities 11 1.862
53
LMB025 Lumbar Malsegmentation Short Stature 4 1.862
54
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 8 1.862
55
GRR002 Gurrieri Syndrome 21 1.860
56
CRB151 Cerebral Creatine Deficiency Syndrome 1 36 1.855
57
c FML169 Familial Osteochondritis Dissecans 30 1.855
58
GRW023 Growth Hormone Deficiency, Isolated Partial 26 1.855
59
TRG019 Trigonocephaly with Short Stature and Developmental Delay 15 1.855
60
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 9 1.855
61
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 13 1.855
62
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 1.855
63
OST149 Osteolysis Syndrome, Recessive 16 1.853
64
DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 10 1.853
65
c TRC102 Trichothiodystrophy 1, Photosensitive 47 1.847
66
RMM001 Rommen Mueller Sybert Syndrome 13 1.847
67
SYM004 Say Meyer Syndrome 7 1.847
68
CSN001 Cousin Syndrome 28 1.845
69
c FNG009 Feingold Syndrome 2 22 1.845
70
JRG001 Jorgenson Lenz Syndrome 18 1.845
71
MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10 1.839
72
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 27 1.830
73
HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 12 1.819
74
BRK005 Berk-Tabatznik Syndrome 7 1.819
75
DWR002 Dauwerse-Peters Syndrome 3 1.819
76
CLD006 Cleidorhizomelic Syndrome 15 1.728
77
P THN009 Thanatophoric Dysplasia, Type I 62 1.639
78
c WLL026 Weill-Marchesani Syndrome 2, Dominant 28 1.587
79
SHR021 Short Stature Prognathism Short Femoral Necks 1 1.570
80
PRG125 Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 5 1.562
81
SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 9 1.549
82
MVD001 Moved to 60 1.446
83
ACD009 Acid-Labile Subunit, Deficiency of 37 1.415
84
PSY015 Psychosocial Short Stature 11 1.412
85
FLT006 Floating-Harbor Syndrome 43 1.381
86
SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 11 1.350
87
DBW001 Dubowitz Syndrome 48 1.350
88
CRN266 Craniofacial Dyssynostosis with Short Stature 15 1.346
89
EXT038 Extrasystoles Short Stature Hyperpigmentation Microcephaly 3 1.344
90
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.344
91
c LRS002 Larsen-Like Syndrome 38 1.342
92
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 15 1.342
93
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 15 1.339
94
PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 15 1.339
95
GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 13 1.339
96
SHR016 Short Stature Deafness Neutrophil Dysfunction 5 1.339
97
SHR049 Short Stature with Optic Atrophy and Pelger-Hu√ęt Anomaly Syndrome 4 1.339
98
CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 14 1.337
99
STR088 Stratton-Parker Syndrome 17 1.337
100
12Q002 12q14 Microdeletion Syndrome 25 1.337
101
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6 1.337
102
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 10 1.337
103
SYS006 Say Syndrome 29 1.337
104
SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3 1.334
105
SHR025 Short Stature Valvular Heart Disease 3 1.334
106
DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 8 1.332
107
SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 8 1.332
108
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 17 1.332
109
SHR027 Short Stature Wormian Bones Dextrocardia 8 1.331
110
IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 23 1.329
111
GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 6 1.329
112
XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 12 1.329
113
INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 11 1.329
114
NRR003 Narrow Oral Fissure Short Stature Cone Shaped Epiphyses 3 1.329
115
MNT025 Mental Retardation Short Stature Deafness Genital 4 1.329
116
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 1.329
117
ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 11 1.329
118
SHX002 Shox-Related Short Stature 3 1.329
119
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 17 1.327
120
c OVR107 Ovarian Dysgenesis 4 24 1.327
121
CRN070 Corneodermatoosseous Syndrome 18 1.324
122
MSM004 Mesomelia-Synostoses Syndrome 24 1.323
123
SHR014 Short Stature Contractures Hypotonia 3 1.323
124
HRY005 Hairy Elbows 27 1.321
125
GRW003 Growth Hormone Insensitivity with Immunodeficiency 19 1.321
126
OLV004 Oliver-Mcfarlane Syndrome 29 1.321
127
PFF010 Pfeiffer-Palm-Teller Syndrome 14 1.321
128
ARC009 Auriculoosteodysplasia 14 1.321
129
RDR002 Rodrigues Blindness 15 1.321
130
INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 4 1.321
131
MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 3 1.321
132
SVR046 Severe Lateral Tibial Bowing with Short Stature 5 1.321
133
ANK003 Ankle Defects Short Stature 1 1.321
134
ART036 Arthritis Short Stature Deafness 2 1.321
135
ACR028 Acrodysplasia with Ossification Abnormalities, Short Stature and Fibular Hypoplasia 1 1.321
136
PRC022 Pericardium Absent Mental Retardation Short Stature 2 1.321
137
HYL003 Hyalinosis Systemic Short Stature 1 1.321
138
HYP217 Hypoparathyroidism Short Stature Mental Retardation 2 1.321
139
SYM010 Symphalangism Short Stature Accessory Testis 2 1.321
140
SYN029 Synostosis of Talus and Calcaneus Short Stature 1 1.321
141
THM004 Thumb Absent Short Stature Immune Deficiency 2 1.321
142
THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2 1.321
143
PLT011 Pilotto Syndrome 16 1.318
144
CRN083 Craniofacial Dyssynostosis 10 1.318
145
SHR013 Short Stature Abnormal Skin Pigmentation Mental Retardation 3 1.318
146
SHR017 Short Stature Dysmorphic Face Pelvic Scapula Dysplasia 1 1.318
147
SHR018 Short Stature Mental Retardation Eye Anomalies 3 1.318
148
SHR019 Short Stature Microcephaly Seizures Deafness 2 1.318
149
SHR020 Short Stature Monodactylous Ectrodactyly Cleft Palate 1 1.318
150
SHR022 Short Stature Robin Sequence Cleft Mandible Hand Anomalies Clubfoot 1 1.318
151
SHR024 Short Stature Talipes Natal Teeth 2 1.318
152
SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2 1.318
153
KWR001 Kowarski Syndrome 21 1.312
154
c WLL011 Weill-Marchesani-Like Syndrome 24 1.312
155
c MNT166 Mental Retardation, Autosomal Recessive 39 19 1.312
156
c MNT249 Mental Retardation, X-Linked 12/35 19 1.312
157
CHD003 Chudley Rozdilsky Syndrome 7 1.312
158
ZRS001 Zori Stalker Williams Syndrome 5 1.312
159
HNT008 Hunter Rudd Hoffmann Syndrome 4 1.312
160
DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6 1.312
161
SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 6 1.312
162
INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3 1.312
163
AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 27 1.300
164
HND005 Hand and Foot Deformity with Flat Facies 14 1.300
165
c BMN004 Biemond Syndrome Ii 15 1.300
166
VLJ001 Viljoen Kallis Voges Syndrome 13 1.300
167
DWR009 Dwarfism Tall Vertebrae 7 1.300
168
DVR003 Devriendt Syndrome 8 1.300
169
TNK001 Tonoki Syndrome 5 1.300
170
THY064 Thyroid Hormone Metabolism, Abnormal 23 1.286
171
c SPS042 Spastic Paraplegia 9 19 1.286
172
RNN006 Reunion Island Larsen Syndrome 19 1.286
173
DRM015 Dermoids of Cornea 16 1.286
174
XLN128 X-Linked Intellectual Disability, Abidi Type 7 1.286
175
HNT009 Hunter-Mcalpine Syndrome 10 1.286
176
THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8 1.286
177
c FCS008 Fucosidosis Type 1 9 1.286
178
SYF001 Say-Field-Coldwell Syndrome 7 1.286
179
PFF002 Pfeiffer Kapferer Syndrome 5 1.286
180
PRY001 Preeyasombat Varavithya Syndrome 5 1.286
181
BDH001 Boudhina Yedes Khiari Syndrome 5 1.286
182
DRC002 D Ercole Syndrome 3 1.286
183
FNG007 Feingold Trainer Syndrome 3 1.286
184
ALG004 Al Gazali Khidr Prem Chandran Syndrome 4 1.286
185
CNS012 Cono-Spondylar Dysplasia 6 1.286
186
CNT052 Cantalamessa Baldini Ambrosi Syndrome 4 1.286
187
CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3 1.286
188
PFF003 Pfeiffer Mayer Syndrome 4 1.286
189
MGR005 Megarbane Syndrome 4 1.286
190
MLN017 Milner Khallouf Gibson Syndrome 4 1.286
191
SCH020 Schaap Taylor Baraitser Syndrome 5 1.286
192
SLV009 Slavotinek Pike Mills Hurst Syndrome 3 1.286
193
THD001 Theodor Hertz Goodman Syndrome 4 1.286
194
ZRR001 Zerres Rietschel Majewski Syndrome 5 1.286
195
LHX002 Lhx4-Related Combined Pituitary Hormone Deficiency 7 1.286
196
P MCR010 Microcephaly 60 0.152
197
GRW007 Growth Hormone Deficiency 49 0.147
198
DWR001 Dwarfism 42 0.139
199
INS024 Insulin-Like Growth Factor I 75 0.129
200
P BRC006 Brachydactyly 53 0.117
201
P OBS005 Obesity 91 0.115
202
P INT063 Intellectual Disability 46 0.112
203
ACR002 Acrocapitofemoral Dysplasia 35 0.107
204
P PLY006 Polydactyly 56 0.093
205
BND014 Bone Development Disease 40 0.092
206
P TRN020 Turner Syndrome 64 0.090
207
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.088
208
HYP080 Hypogonadism 54 0.086
209
LRW001 Leri-Weill Dyschondrosteosis 42 0.083
210
P HPT021 Hepatitis 74 0.083
211
RTN023 Retinitis 49 0.077
212
ALR002 Al-Raqad Syndrome 36 0.076
213
ELL001 Ellis-Van Creveld Syndrome 56 0.075
214
CSY001 C Syndrome 49 0.073
215
c BRN108 Branchiootic Syndrome 1 36 0.073
216
NTR005 Nutritional Deficiency Disease 51 0.072
217
P ART022 Arthritis 73 0.072
218
ISL003 Isolated Growth Hormone Deficiency 39 0.071
219
P HRT032 Heart Disease 64 0.070
220
c CNG401 Congenital Heart Disease 67 0.068
221
HYP042 Hypochondroplasia 55 0.068
222
P OST012 Osteoarthritis 81 0.068
223
PRS047 Prostatitis 56 0.066
224
P ATX004 Ataxia 53 0.066
225
P CLC005 Celiac Disease 67 0.065
226
ACH004 Achondroplasia 64 0.065
227
P GND004 Gonadal Dysgenesis 51 0.065
228
P CTR002 Cataract 57 0.064
229
SYN005 Synostosis 44 0.064
230
P SCL018 Scoliosis 56 0.063
231
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 35 0.063
232
CRB009 Cerebritis 36 0.063
233
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 45 0.063
234
P THY032 Thyroiditis 57 0.063
235
ARS001 Aarskog-Scott Syndrome 52 0.062
236
P LVR013 Liver Disease 76 0.062
237
TBR010 Tuberculosis 70 0.061
238
P KDN018 Kidney Disease 64 0.061
239
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.061
240
KDS001 Kid Syndrome 53 0.060
241
P PTS002 Ptosis 56 0.060
242
ASP005 Asphyxiating Thoracic Dystrophy 53 0.060
243
c BRC082 Brachydactyly, Type E 39 0.059
244
BNS002 Bone Structure Disease 37 0.059
245
P INT068 Intestinal Disease 60 0.059
246
CHL071 Child Syndrome 58 0.058
247
PSD012 Pseudoachondroplasia 53 0.058
248
SPN154 Spondyloperipheral Dysplasia 32 0.058
249
SKL014 Skeletal Dysplasia 44 0.058
250
SKL017 Skeletal Dysplasias 41 0.058
251
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 39 0.058
252
ACR043 Acromicric Dysplasia 30 0.057
253
SDC002 Sed Congenita 44 0.057
254
CLF001 Cleft Lip 48 0.057
255
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34 0.057
256
RNP001 Renpenning Syndrome 48 0.057
257
LNG040 Langer Mesomelic Dysplasia 32 0.057
258
P MYP004 Myopathy 67 0.057
259
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45 0.056
260
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.056
261
P PRD006 Prader-Willi Syndrome 64 0.056
262
P AST005 Asthma 80 0.055
263
RSP006 Respiratory System Disease 61 0.055
264
CNG034 Congestive Heart Failure 72 0.055
265
PTR006 Peters Anomaly 64 0.055
266
P NNN008 Noonan Syndrome 1 64 0.055
267
WLL001 Williams-Beuren Syndrome 61 0.055
268
P LRS001 Larsen Syndrome 53 0.055
269
PRM025 Primary Bacterial Infectious Disease 42 0.054
270
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.054
271
HYP056 Hypoglycemia 60 0.054
272
SMD002 Smed Strudwick Type 41 0.054
273
DYG001 Dyggve-Melchior-Clausen Disease 25 0.054
274
SKN016 Skin Disease 69 0.054
275
KNS001 Kniest Dysplasia 52 0.054
276
CRT002 Cartilage-Hair Hypoplasia 57 0.054
277
c BRC078 Brachydactyly, Type A1 46 0.053
278
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 27 0.053
279
P RHM011 Rheumatoid Arthritis 87 0.053
280
c CNG413 Congenital Short Bowel Syndrome 34 0.053
281
P CRV039 Cervicitis 45 0.053
282
CHN057 Chondrodysplasia, Grebe Type 36 0.053
283
P CRD011 Cardiomyopathy 66 0.052
284
SPS057 Spasticity 41 0.052
285
c EPP017 Epiphyseal Dysplasia, Multiple, 1 33 0.052
286
NCL006 Nicolaides-Baraitser Syndrome 39 0.052
287
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 40 0.052
288
P CCK001 Cockayne Syndrome 58 0.052
289
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.051
290
ACR013 Acrodysostosis 50 0.051
291
P DRR001 Diarrhea 60 0.051
292
LRN003 Learning Disability 49 0.051
293
P SYN001 Syndactyly 49 0.051
294
SXD001 Sex Differentiation Disease 39 0.051
295
SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 28 0.051
296
HV1006 Hiv-1 80 0.051
297
GLC008 Glucose Metabolism Disease 44 0.051
298
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.050
299
P PNM007 Pneumonia 67 0.050
300
CST001 Costello Syndrome 68 0.050
301
P CLD001 Cleidocranial Dysplasia 62 0.050
302
CHN016 Cohen Syndrome 55 0.050
303
P HYP265 Hypotonia 39 0.050
304
P SLV001 Silver-Russell Syndrome 54 0.049
305
P RBN001 Rubinstein-Taybi Syndrome 65 0.049
306
P RBN002 Robinow Syndrome 47 0.049
307
PRP016 Paraplegia 49 0.049
308
GST050 Gastrointestinal System Disease 58 0.049
309
P CRN108 Cranioectodermal Dysplasia 1 48 0.049
310
ACR011 Acromesomelic Dysplasia, Maroteaux Type 53 0.049
311
c DSB006 Desbuquois Dysplasia 1 34 0.049
312
BLM001 Bloom Syndrome 63 0.049
313
SCH016 Schimke Immunoosseous Dysplasia 50 0.049
314
MTH009 Mouth Disease 63 0.048
315
c CMP072 Camptodactyly Syndrome, Guadalajara, Type I 18 0.048
316
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 0.048
317
P MNN013 Meningitis 66 0.048
318
P PRM019 Premature Ovarian Failure 65 0.048
319
c EPP014 Epiphyseal Dysplasia, Multiple, 4 35 0.048
320
P MLT007 Multiple Epiphyseal Dysplasia 50 0.048
321
P HLL001 Hallermann-Streiff Syndrome 53 0.048
322
BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 26 0.048
323
CMP005 Campomelic Dysplasia 60 0.047
324
P KBK002 Kabuki Syndrome 1 49 0.047
325
CDS002 Codas Syndrome 38 0.047
326
RHM027 Rheumatic Disease 55 0.047
327
c ACH035 Achondrogenesis Ib 46 0.047
328
CHR543 Chromosome 2q37 Deletion Syndrome 30 0.047
329
P HYP060 Hyperinsulinism 58 0.047
330
CRD137 Cardiogenic Shock 44 0.047
331
P WLL002 Weill-Marchesani Syndrome 49 0.047
332
c BRT038 Baraitser-Winter Syndrome 1 30 0.047
333
c DWL002 Dowling-Degos Disease 1 33 0.047
334
BRT030 Birth Defects 44 0.046
335
CNN005 Connective Tissue Disease 60 0.046
336
P ACH011 Achondrogenesis 39 0.046
337
HND003 Hand-Foot-Uterus Syndrome 46 0.046
338
LPD008 Lipid Metabolism Disorder 42 0.046
339
c CRN175 Coronary Heart Disease 4 19 0.046
340
c THN010 Thanatophoric Dysplasia, Type Ii 50 0.045
341
DST005 Diastrophic Dysplasia 57 0.045
342
c BRC081 Brachydactyly, Type C 39 0.045
343
c SPN330 Spondylocostal Dysostosis 5 34 0.045
344
c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 16 0.045
345
NRN002 Neuronitis 40 0.045
346
CFF002 Coffin-Lowry Syndrome 56 0.045
347
MRS002 Marshall Syndrome 51 0.045
348
P DSB002 Desbuquois Dysplasia 42 0.045
349
P MSC005 Muscular Dystrophy 64 0.045
350
ACQ007 Acquired Immunodeficiency Syndrome 60 0.045
351
P NRP001 Neuropathy 57 0.045
352
P FNG005 Feingold Syndrome 43 0.044
353
WRN001 Werner Syndrome 69 0.044
354
P CRN015 Cornelia De Lange Syndrome 65 0.044
355
P STC001 Stickler Syndrome 53 0.044
356
MCR103 Microtia 37 0.044
357
CRD002 Cri-Du-Chat Syndrome 48 0.044
358
P ANR007 Anorexia Nervosa 63 0.044
359
ANG054 Angina Pectoris 48 0.044
360
c MCP024 Mucopolysaccharidosis Type Vi 61 0.044
361
P SLD010 Sialidosis, Type I 41 0.044
362
P RTN008 Retinitis Pigmentosa 78 0.044
363
PYC001 Pycnodysostosis 51 0.044
364
WYR002 Weyers Acrofacial Dysostosis 37 0.044
365
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 32 0.044
366
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 29 0.044
367
BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 23 0.044
368
PLC008 Placenta Disease 33 0.044
369
SLP005 Sleep Disorder 52 0.044
370
OPS002 Opsismodysplasia 32 0.044
371
P DYS007 Dyskeratosis Congenita 64 0.044
372
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 22 0.044
373
P SCH015 Schizophrenia 78 0.044
374
MLR004 Malaria 80 0.044
375
ACR041 Acromelic Frontonasal Dysostosis 45 0.044
376
c HPT003 Hepatitis a 55 0.044
377
PLM001 Pulmonary Tuberculosis 69 0.044
378
ALC006 Alcoholic Hepatitis 60 0.044
379
P HYP086 Hypothyroidism 63 0.043
380
WLF002 Wolf-Hirschhorn Syndrome 50 0.043
381
BDY001 Body Dysmorphic Disorder 41 0.043
382
c MCP009 Mucopolysaccharidosis Ii 62 0.043
383
BLL001 Baller-Gerold Syndrome 52 0.043
384
ABR009 Abruzzo-Erickson Syndrome 34 0.043
385
P HYP083 Hypopituitarism 50 0.043
386
CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 13 0.043
387
LSH001 Leishmaniasis 63 0.043
388
P CRN178 Coronary Heart Disease 6 22 0.043
389
SMT004 Smith-Lemli-Opitz Syndrome 66 0.043
390
P RTH001 Rothmund-Thomson Syndrome 56 0.043
391
P SPN061 Spondyloepiphyseal Dysplasia Tarda 40 0.043
392
SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 32 0.043
393
c BRC045 Brachyolmia Type 3 28 0.043
394
c PSD067 Pseudohypoparathyroidism Ia 36 0.043
395
MTT002 Metatropic Dysplasia 32 0.043
396
MCR308 Microcephalic Primordial Dwarfism, Toriello Type 17 0.043
397
FMR018 Femoral-Facial Syndrome 28 0.042
398
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 26 0.042
399
c ACH033 Achondrogenesis, Type Ia 45 0.042
400
CRN017 Coronary Thrombosis 46 0.042
401
c GLY019 Glycogen Storage Disease Iiia 50 0.042
402
P SJG002 Sjogren-Larsson Syndrome 51 0.042
403
SCH068 Schwartz-Jampel Syndrome, Type 1 34 0.042
404
c TRC092 Trichorhinophalangeal Syndrome, Type I 44 0.042
405
P DMN001 Diamond-Blackfan Anemia 69 0.042
406
P THL005 Thalassemia 61 0.042
407
c ART120 Arthrogryposis, Distal, Type 3 39 0.042
408
ECT006 Ectodermal Dysplasia 46 0.042
409
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 35 0.042
410
P CRD013 Cardiofaciocutaneous Syndrome 65 0.042
411
c PSD058 Pseudohypoparathyroidism Ic 26 0.042
412
SPN180 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 26 0.042
413
SPN331 Spondyloocular Syndrome 27 0.042
414
LVR012 Liver Cirrhosis 71 0.041
415
SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 26 0.041
416
KYP002 Kyphomelic Dysplasia 24 0.041
417
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.041
418
ANR040 Aneurysm 56 0.041
419
CRY002 Cryptorchidism 61 0.041
420
P PRC019 Precocious Puberty 53 0.041
421
P MCL016 Mucolipidosis Iii Gamma 33 0.041
422
NRF008 Neurofibromatosis-Noonan Syndrome 45 0.041
423
c EPP015 Epiphyseal Dysplasia, Multiple, 3 24 0.041
424
c EPP012 Epiphyseal Dysplasia, Multiple, 2 23 0.041
425
SCH071 Schaaf-Yang Syndrome 26 0.041
426
BLP004 Blepharophimosis 38 0.041
427
CRB045 Cerebellar Hypoplasia 47 0.041
428
P BRC003 Brachyolmia 26 0.041
429
JCB001 Jacobsen Syndrome 49 0.041
430
SPN250 Spondyloepimetaphyseal Dysplasia 48 0.041
431
OST015 Osteochondrodysplasia 54 0.041
432
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 17 0.041
433
P LPD010 Lipodystrophy 51 0.041
434
c MCP004 Mucopolysaccharidosis Iv 60 0.040
435
P NJM001 Nijmegen Breakage Syndrome 68 0.040
436
c ORF040 Orofaciodigital Syndrome Viii 49 0.040
437
STV004 Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 36 0.040
438
P MRN003 Marinesco-Sjogren Syndrome 37 0.040
439
CLF027 Cleft Palate, Isolated 56 0.040
440
SPN060 Spondylocarpotarsal Synostosis Syndrome 38 0.040
441
PTT045 Pituitary Hormone Deficiency, Combined, 1 29 0.040
442
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 20 0.040
443
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 17 0.040
444
P HYP087 Hypotrichosis 44 0.040
445
P ADL010 Adult Respiratory Distress Syndrome 60 0.040
446
P OVR049 Ovarian Disease 54 0.040
447
P LRY019 Laryngitis 55 0.040
448
BRN106 Burns 52 0.040
449
ACR007 Acromegaly 66 0.040
450
DRM006 Dermatitis 58 0.040
451
PRT036 Peritonitis 65 0.040
452
P MSC003 Muscular Atrophy 51 0.040
453
P EPL164 Epilepsy 60 0.040
454
GND003 Gonadal Disease 41 0.040
455
KTL001 Keutel Syndrome 37 0.040
456
OST044 Osteoglophonic Dysplasia 49 0.040
457
MRT007 Martsolf Syndrome 39 0.040
458
c GLP003 Geleophysic Dysplasia 1 26 0.040
459
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23 0.040
460
NSD003 Nasodigitoacoustic Syndrome 17 0.040
461
THR033 Thoracomelic Dysplasia 15 0.040
462
P CLB002 Clubfoot 40 0.040
463
ACR101 Acrocraniofacial Dysostosis 18 0.040
464
P ESC003 Escobar Syndrome 59 0.039
465
GRW015 Growth Hormone Deficiency, Isolated, Type Ia 40 0.039
466
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.039
467
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 40 0.039
468
MLB001 Mulibrey Nanism 46 0.039
469
c KNN007 Kenny-Caffey Syndrome, Type 2 26 0.039
470
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30 0.039
471
c HYP609 Hypophosphatemic Rickets, X-Linked Dominant 33 0.039
472
RDL002 Radioulnar Synostosis 45 0.039
473
CXR001 Coxoauricular Syndrome 12 0.039
474
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31 0.039
475
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 35 0.039
476
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 54 0.039
477
P PLG001 Pelger-Huet Anomaly 46 0.039
478
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 26 0.039
479
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 36 0.039
480
P SPS003 Spastic Diplegia 49 0.039
481
c HPT073 Hepatitis C Virus 72 0.039
482
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 38 0.039
483
VSC003 Visceral Leishmaniasis 56 0.039
484
SXL003 Sexual Disorder 45 0.039
485
P PYL005 Pyelonephritis 52 0.039
486
SMT008 Smith-Magenis Syndrome 49 0.039
487
PRD011 Proud Syndrome 42 0.039
488
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 34 0.039
489
ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 29 0.039
490
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 38 0.039
491
P CRN037 Craniosynostosis 66 0.039
492
TRS002 Tarsal-Carpal Coalition Syndrome 35 0.039
493
SNS001 Sensorineural Hearing Loss 52 0.039
494
CHR588 Chromosome 8q22.1 Duplication Syndrome 18 0.039
495
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 23 0.039
496
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 18 0.039
497
FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 14 0.039
498
PCK002 Pick Disease 66 0.038
499
P CLL015 Collagen Disease 49 0.038
500
c CRN214 Coronary Heart Disease 5 22 0.038
501
SHW002 Shwachman-Diamond Syndrome 59 0.038
502
ALS001 Alstrom Syndrome 52 0.038
503
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 35 0.038
504
JHN001 Johanson-Blizzard Syndrome 47 0.038
505
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 43 0.038
506
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 31 0.038
507
MTP028 Metaphyseal Dysplasia, Spahr Type 25 0.038
508
c NNN010 Noonan Syndrome 3 37 0.038
509
STY001 Satoyoshi Syndrome 27 0.038
510
ALZ030 Alazami Syndrome 22 0.038
511
SPN348 Spondylometaphyseal Dysplasia, Axial 19 0.038
512
HYP068 Hyperostosis 39 0.038
513
SPN349 Spondylometaphyseal Dysplasia, Type A4 14 0.038
514
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 16 0.038
515
P HYP613 Hypophosphatemic Rickets 50 0.038
516
KLN001 Klinefelter's Syndrome 52 0.038
517
BRN002 Bronchiolitis 56 0.038
518
P GRV001 Graves' Disease 62 0.037
519
ACR066 Acrodysostosis 1, with or Without Hormone Resistance 26 0.037
520
PTT009 Pituitary Gland Disease 45 0.037
521
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 22 0.037
522
P THR014 Thrombocytopenia 63 0.037
523
ARM006 Armfield X-Linked Mental Retardation Syndrome 17 0.037
524
P NRB001 Neuroblastoma 70 0.037
525
DWN001 Down Syndrome 65 0.037
526
SCH030 Schneckenbecken Dysplasia 33 0.037
527
CHG001 Chagas Disease 62 0.037
528
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 29 0.037
529
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 15 0.037
530
P END033 Endocarditis 52 0.037
531
P CHL066 Cholangitis 48 0.037
532
P MWT001 Mowat-Wilson Syndrome 50 0.037
533
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.037
534
NTV001 Native American Myopathy 28 0.037
535
RPD002 Rapadilino Syndrome 41 0.037
536
TRS007 Trismus-Pseudocamptodactyly Syndrome 33 0.037
537
PTC002 Potocki-Lupski Syndrome 33 0.037
538
P HYP024 Hypoparathyroidism 52 0.037
539
EST005 Esotropia 39 0.037
540
HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 26 0.037
541
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 41 0.037
542
PHY002 Physical Disorder 43 0.037
543
SCK003 Sickle Cell Anemia 72 0.036
544
P ATX030 Ataxia-Telangiectasia 78 0.036
545
MND007 Mandibuloacral Dysplasia 51 0.036
546
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.036
547
c MCP012 Mucopolysaccharidosis Ih 41 0.036
548
PSD014 Pseudopseudohypoparathyroidism 50 0.036
549
SNG010 Single Median Maxillary Central Incisor 52 0.036
550
P MST009 Mastocytosis 54 0.036
551
CHR211 Chromosome 18p Deletion Syndrome 38 0.036
552
GRL004 Gorlin-Chaudhry-Moss Syndrome 24 0.036
553
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 35 0.036
554
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 33 0.036
555
RHZ008 Rhizomelic Syndrome 17 0.036
556
MCD002 Mcdonough Syndrome 25 0.036
557
c ACR103 Acrofrontofacionasal Dysostosis 1 19 0.036
558
VLF001 Velofacioskeletal Syndrome 13 0.036
559
WDS002 Woods Syndrome 30 0.036
560
c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 14 0.036
561
CRH001 Crohn's Disease 76 0.036
562
P ATP001 Atopic Dermatitis 60 0.036
563
CHN054 Chondrodysplasia, Blomstrand Type 42 0.036
564
c CNT035 Central Nervous System Disease 60 0.036
565
MYC002 Mycobacterium Avium Complex Disease 52 0.036
566
c CRN177 Coronary Heart Disease 7 21 0.036
567
P TRM003 Tremor 54 0.036
568
PRT038 Protein-Energy Malnutrition 48 0.036
569
P AGG001 Aggressive Periodontitis 49 0.036
570
MLT006 Multidrug-Resistant Tuberculosis 46 0.036
571
SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 13 0.036
572
c ACT042 Acute Pyelonephritis 47 0.036
573
CHR005 Chorioamnionitis 47 0.036
574
P SLP006 Sleep Apnea 60 0.036
575
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 0.035
576
P TRC091 Trichorhinophalangeal Syndrome, Type Ii 48 0.035
577
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 56 0.035
578
TRY002 Troyer Syndrome 44 0.035
579
LWS003 Lowe Syndrome 61 0.035
580
c EHL032 Ehlers-Danlos Syndrome, Type Viib 48 0.035
581
OST024 Osteoporosis-Pseudoglioma Syndrome 55 0.035
582
MCR013 Microphthalmia 57 0.035
583
P SCK004 Seckel Syndrome 53 0.035
584
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 44 0.035
585
NNN026 Noonan Syndrome with Multiple Lentigines 48 0.035
586
STF002 Stiff Skin Syndrome 51 0.035
587
LRN001 Laurence-Moon Syndrome 36 0.035
588
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 27 0.035
589
WTS001 Watson Syndrome 29 0.035
590
TTH002 Tooth Agenesis 54 0.035
591
c MCP015 Mucopolysaccharidosis Type Ix 34 0.035
592
WSM003 Weismann-Netter Syndrome 23 0.035
593
MCR274 Microcephalic Primordial Dwarfism, Montreal Type 17 0.035
594
ATK002 Atkin-Flaitz Syndrome 15 0.035
595
MSC020 Mosaic Trisomy 8 29 0.035
596
PTT041 Pituitary Stalk Interruption Syndrome 40 0.035
597
FRY005 Fryns Smeets Thiry Syndrome 9 0.035
598
P OST005 Osteogenesis Imperfecta 68 0.035
599
NTH001 Netherton Syndrome 52 0.035
600
WLS004 Wilson-Turner Syndrome 31 0.035
601
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 26 0.035
602
ACR003 Acrodermatitis Enteropathica 49 0.035
603
ADR038 Adermatoglyphia 39 0.035
604
P MYP006 Myopia 58 0.035
605
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.035
606
HTC002 Hutchinson-Gilford Progeria 51 0.035
607
3PS001 3p- Syndrome 38 0.035
608
FNT003 Fountain Syndrome 26 0.035
609
c NNN025 Noonan Syndrome 10 24 0.035
610
c NNN024 Noonan Syndrome 9 23 0.035
611
c BRC053 Brachyolmia Type 2 18 0.035
612
ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 21 0.035
613
BRN125 Branchiogenic-Deafness Syndrome 15 0.035
614
ULN024 Ulnar/fibular Ray Defect and Brachydactyly 15 0.035
615
IMP002 Imperforate Anus 54 0.035
616
P PFF001 Pfeiffer Syndrome 73 0.035
617
RBR001 Roberts Syndrome 61 0.035
618
P SZR006 Seizure Disorder 56 0.035
619
FCL009 Focal Dermal Hypoplasia 52 0.035
620
LPT001 Leptospirosis 65 0.035
621
TYP011 Typhus 57 0.035
622
GST045 Gastroenteritis 59 0.035
623
KNS006 Kniest-Like Dysplasia, Lethal 15 0.035
624
CTN007 Cutaneous Leishmaniasis 62 0.035
625
INT066 Interstitial Lung Disease 60 0.035
626
PRS036 Parasitic Protozoa Infectious Disease 45 0.035
627
CHR008 Choroiditis 43 0.035
628
CRT049 Critical Limb Ischemia 51 0.035
629
c OTP006 Otopalatodigital Syndrome, Type I 36 0.034
630
GNG013 Gingivitis 61 0.034
631
SKN023 Skin Tag 48 0.034
632
TRP009 Triple X Syndrome 40 0.034
633
GRN039 Greenberg Skeletal Dysplasia 40 0.034
634
P LPR003 Leprosy 70 0.034
635
P NRV007 Nervous System Disease 71 0.034
636
CHR222 Chromosome 1p36 Deletion Syndrome 43 0.034
637
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 25 0.034
638
QFV001 Q Fever 62 0.034
639
TYP007 Typhoid Fever 61 0.034
640
PLS007 Plasmodium Falciparum Malaria 56 0.034
641
DYS073 Dysphagia 51 0.034
642
HPT074 Hepatic Adenoma, Somatic 35 0.034
643
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.034
644
MRC001 Marchiafava Bignami Disease 33 0.034
645
HND002 Hand, Foot and Mouth Disease 49 0.034
646
ACR096 Acromesomelic Dysplasia, Demirhan Type 18 0.034
647
P MYC008 Myocarditis 56 0.034
648
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 17 0.034
649
P FTL001 Fetal Alcohol Syndrome 53 0.034
650
MTB004 Metabolic Acidosis 49 0.034
651
ACR016 Acromesomelic Dysplasia 33 0.034
652
2Q3005 2q31.1 Microdeletion Syndrome 17 0.034
653
P RTT002 Rett Syndrome 77 0.034
654
DBT088 Diabetes Insipidus, Nephrogenic 59 0.034
655
c FNC027 Fanconi Anemia, Complementation Group a 71 0.034
656
c OST122 Osteogenesis Imperfecta, Type Iii 57 0.034
657
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.034
658
c OST131 Osteopetrosis, Autosomal Dominant 2 40 0.034
659
P MYM002 Moyamoya Disease 60 0.034
660
c JVN010 Juvenile Rheumatoid Arthritis 65 0.034
661
RBS003 Rabson-Mendenhall Syndrome 55 0.034
662
PTT047 Pituitary Hormone Deficiency, Combined, 3 30 0.034
663
P OST009 Osteochondritis Dissecans 51 0.034
664
GLD002 Goldberg-Shprintzen Megacolon Syndrome 28 0.034
665
c KNN009 Kenny-Caffey Syndrome, Type 1 30 0.034
666
CTY001 Cat Eye Syndrome 42 0.034
667
c ART117 Arthrogryposis, Distal, Type 2b 36 0.034
668
ALP008 Alopecia 56 0.034
669
CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 29 0.034
670
WLC001 Wolcott-Rallison Syndrome 42 0.034
671
FRS007 Frias Syndrome 25 0.034
672
WLD004 Wildervanck Syndrome 26 0.034
673
c NNN021 Noonan Syndrome 8 26 0.034
674
PRG123 Progeroid Syndrome, Neonatal 23 0.034
675
ACR034 Acrogeria, Gottron Type 28 0.034
676
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 17 0.034
677
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 17 0.034
678
CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 17 0.034
679
CLB011 Coloboma of Macula with Type B Brachydactyly 16 0.034
680
CHR501 Chromosome 17q12 Deletion Syndrome 26 0.034
681
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 17 0.034
682
HYP064 Hypogonadotropism 38 0.034
683
MGL033 Megalocornea-Mental Retardation Syndrome 22 0.034
684
SND006 Sonoda Syndrome 15 0.034
685
DYS180 Dyschondrosteosis and Nephritis 14 0.034
686
MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 17 0.034
687
CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 14 0.034
688
GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 14 0.034
689
APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 13 0.034
690
CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 14 0.034
691
VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 13 0.034
692
OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 15 0.034
693
CRN224 Craniofaciofrontodigital Syndrome 14 0.034
694
c RBN010 Robinow-Like Syndrome 11 0.034
695
MRF001 Marfan Syndrome 73 0.034
696
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 27 0.034
697
OBS061 Obstructive Sleep Apnea 61 0.033
698
HJD001 Hajdu-Cheney Syndrome 60 0.033
699
c SRC025 Sarcoidosis 1 58 0.033
700
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 46 0.033
701
MLD001 Melioidosis 67 0.033
702
P DRM010 Dermatomyositis 59 0.033
703
P GST044 Gastritis 64 0.033
704
c ORF035 Orofaciodigital Syndrome Iv 28 0.033
705
DPN005 Du Pan Syndrome 44 0.033
706
GTR002 Goiter 54 0.033
707
ERY003 Erythema Multiforme 57 0.033
708
BRN062 Burn-Mckeown Syndrome 25 0.033
709
SPT005 Spotted Fever 56 0.033
710
VSC011 Vasculitis 62 0.033
711
P FBR025 Fibrochondrogenesis 49 0.033
712
c SVR001 Severe Acute Respiratory Syndrome 56 0.033
713
PLS006 Plasmodium Vivax Malaria 52 0.033
714
CHL123 Chlamydia 60 0.033
715
AMN001 Amenorrhea 51 0.033
716
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.033
717
RLP001 Relapsing Polychondritis 52 0.033
718
BRC095 Brachydactyly, Mononen Type 15 0.033
719
OSB001 Osebold-Remondini Syndrome 17 0.033
720
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 18 0.033
721
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17 0.033
722
c BRC099 Brachydactyly, Type A4 17 0.033
723
FTZ005 Fitzsimmons-Guilbert Syndrome 20 0.033
724
CHR248 Chromosome 4p Duplication 19 0.033
725
BRN012 Bronchiolitis Obliterans 58 0.033
726
LPR001 Lepromatous Leprosy 50 0.033
727
MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 17 0.033
728
c OST147 Osteoarthritis 1 31 0.033
729
FDL002 Food Allergy 56 0.033
730
CHR190 Chromosome 12p Duplication 19 0.033
731
c ACT027 Acute Pancreatitis 59 0.033
732
BND017 Bone Dysplasia, Lethal, Holmgren Type 16 0.033
733
TRY001 Trypanosomiasis 51 0.033
734
PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 15 0.033
735
NNT049 Nontuberculous Mycobacterial Lung Disease 41 0.033
736
NNL002 Nonalcoholic Steatohepatitis 49 0.033
737
c HYP595 Hypertension, Essential 69 0.032
738
c OTP007 Otopalatodigital Syndrome, Type Ii 39 0.032
739
P TRC086 Trichohepatoenteric Syndrome 1 46 0.032
740
c OMD001 Omodysplasia 1 27 0.032
741
c BRC079 Brachydactyly, Type A2 45 0.032
742
CHL068 Cholestasis 57 0.032
743
PLL008 Pallister-Killian Syndrome 32 0.032
744
BSC001 Buschke-Ollendorff Syndrome 59 0.032
745
c EHL057 Ehlers-Danlos Syndrome, Type Iv 59 0.032
746
LGG001 Legg-Calve-Perthes Disease 58 0.032
747
FLP001 Filippi Syndrome 27 0.032
748
BWN001 Bowen-Conradi Syndrome 51 0.032
749
PRM056 Primrose Syndrome 32 0.032
750
c MCP038 Mucopolysaccharidosis Iva 45 0.032
751
GMZ002 Gomez-Lopez-Hernandez Syndrome 24 0.032
752
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 21 0.032
753
MSM019 Mesomelic Dysplasia, Savarirayan Type 16 0.032
754
OCL070 Oculopalatocerebral Syndrome 16 0.032
755
LYM123 Lymphedema-Hypoparathyroidism Syndrome 16 0.032
756
SPN125 Spondyloenchondrodysplasia 21 0.032
757
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.031
758
KRT004 Keratitis 70 0.031
759
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.031
760
FRB001 Farber Lipogranulomatosis 54 0.031
761
CYS010 Cystinosis 51 0.031
762
PRT037 Pertussis 63 0.031
763
GRC002 Gracile Bone Dysplasia 27 0.031
764
PTC001 Potocki-Shaffer Syndrome 37 0.031
765
P RTS001 Ritscher-Schinzel Syndrome 35 0.031
766
HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25 0.031
767
c GLP004 Geleophysic Dysplasia 2 25 0.031
768
CHN043 Chondrodysplasia with Joint Dislocations, Grapp Type 20 0.031
769
P CRB154 Cerebrocostomandibular Syndrome 33 0.031
770
P SNS014 Sinusitis 66 0.031
771
ECH003 Echinococcosis 53 0.031
772
DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 18 0.031
773
ACR099 Acrofacial Dysostosis, Catania Type 22 0.031
774
P SPN052 Spondyloarthropathy 58 0.031
775
c HPT007 Hepatitis E 51 0.031
776
P UVT001 Uveitis 60 0.031
777
c RNG022 Ring Chromosome 6 23 0.031
778
c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 36 0.031
779
BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 13 0.031
780
c ANT034 Anterior Uveitis 49 0.031
781
GRM003 German Syndrome 24 0.031
782
DPH019 Diaphanospondylodysostosis 36 0.031
783
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 19 0.031
784
DDN006 Duodenitis 44 0.031
785
GLC003 Glucose Intolerance 56 0.031
786
RVL002 Ruvalcaba Syndrome 32 0.031
787
P LGH007 Leigh Syndrome 70 0.030
788
c MCP037 Mucopolysaccharidosis is 65 0.030
789
P EHL033 Ehlers-Danlos Syndrome, Classic Type 55 0.030
790
MVL001 Mevalonic Aciduria 53 0.030
791
KRN002 Kearns-Sayre Syndrome 60 0.030
792
MSS001 Masa Syndrome 49 0.030
793
P HYP035 Hypophosphatasia 56 0.030
794
P STH001 Saethre-Chotzen Syndrome 61 0.030
795
MLT135 Multiple Sulfatase Deficiency 52 0.030
796
INC021 Incontinentia Pigmenti 57 0.030
797
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42 0.030
798
LYS003 Lysinuric Protein Intolerance 51 0.030
799
ECT078 Ectodermal Dysplasia 2, Clouston Type 46 0.030
800
LKC001 Leukocyte Adhesion Deficiency 65 0.030
801
c STC015 Stickler Syndrome, Type I 34 0.030
802
AMY086 Amyotrophy, Hereditary Neuralgic 33 0.030
803
GLL032 Galloway-Mowat Syndrome 52 0.030
804
VCS001 Vici Syndrome 50 0.030
805
GLY014 Glycerol Kinase Deficiency 46 0.030
806
HRT031 Hartnup Disorder 45 0.030
807
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 45 0.030
808
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 30 0.030
809
P EHL015 Ehlers-Danlos Syndrome Progeroid Type 39 0.030
810
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 44 0.030
811
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 45 0.030
812
GRW016 Growth Hormone Deficiency, Isolated, Type Ib 32 0.030
813
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 32 0.030
814
c BRC047 Bruck Syndrome 1 30 0.030
815
c CNG383 Congenital Disorder of Glycosylation, Type Iik 26 0.030
816
HYP077 Hypertrichosis 52 0.030
817
ARM004 Aromatase Excess Syndrome 37 0.030
818
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 41 0.030
819
c MCP036 Mucopolysaccharidosis Ih/s 34 0.030
820
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 29 0.030
821
GLS018 Glass Syndrome 36 0.030
822
c WLL027 Weill-Marchesani Syndrome 1, Recessive 28 0.030
823
c OST121 Osteogenesis Imperfecta, Type Iv 46 0.030
824
c EPP009 Epiphyseal Dysplasia, Multiple, 6 22 0.030
825
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 30 0.030
826
c HRD104 Hereditary Multiple Osteochondromas 42 0.030
827
c WLL025 Weill-Marchesani Syndrome 3, Recessive 28 0.030
828
CRN049 Craniolenticulosutural Dysplasia 22 0.030
829
P AML002 Amelogenesis Imperfecta 43 0.030
830
c OST110 Osteogenesis Imperfecta, Type Xv 25 0.030
831
KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 19 0.030
832
P MSC022 Mosaic Variegated Aneuploidy Syndrome 42 0.030
833
P DNT011 Dentinogenesis Imperfecta 42 0.030
834
MND023 Mend Syndrome 24 0.030
835
MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 20 0.030
836
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 19 0.030
837
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 19 0.030
838
GRD005 Geroderma Osteodysplasticum 27 0.030
839
c TRC100 Trichothiodystrophy 3, Photosensitive 18 0.030
840
BRN123 Branchial Arch Syndrome, X-Linked 20 0.030
841
BNG086 Bangstad Syndrome 17 0.030
842
NVR001 Nievergelt Syndrome 22 0.030
843
RCH010 Richieri-Costa/guion-Almeida Syndrome 20 0.030
844
NRF010 Neurofaciodigitorenal Syndrome 17 0.030
845
ATM080 Autoimmune Disease, Multisystem, Infantile-Onset 16 0.030
846
DFN312 Deafness, Congenital, with Vitiligo and Achalasia 15 0.030
847
P TRC099 Trichothiodystrophy 2, Photosensitive 16 0.030
848
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 18 0.030
849
CRD215 Cardioskeletal Syndrome, Kuwaiti Type 14 0.030
850
c CNT075 Central Precocious Puberty 49 0.030
851
ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 14 0.030
852
SPS192 Spastic Paraparesis and Deafness 16 0.030
853
CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 14 0.030
854
MSL005 Mseleni Joint Disease 19 0.030
855
HYP681 Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 15 0.030
856
MDL024 Madelung Deformity 13 0.030
857
XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 32 0.030
858
FBL009 Fibular Hypoplasia 12 0.030
859
THL010 Thalassemia Minor 38 0.030
860
SPC003 Specific Developmental Disorder 39 0.030
861
P VLC001 Velocardiofacial Syndrome 64 0.030
862
c MCP003 Mucopolysaccharidosis Vii 62 0.030
863
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 45 0.030
864
INT146 Intervertebral Disc Disease 59 0.030
865
KWS002 Kawasaki Disease 70 0.030
866
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 28 0.030
867
BRN003 Branchiooculofacial Syndrome 51 0.030
868
OTT002 Otitis Media 66 0.030
869
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.030
870
P HYP061 Hypertrophic Cardiomyopathy 64 0.030
871
SDM002 Sed, Maroteaux Type 29 0.030
872
c OST118 Osteogenesis Imperfecta, Type Viii 24 0.030
873
P ASP006 Aspergillosis 61 0.030
874
CHR066 Chronic Fatigue Syndrome 63 0.030
875
BRC012 Brucellosis 66 0.030
876
LTR009 Lateral Meningocele Syndrome 33 0.030
877
CNT047 Contact Dermatitis 62 0.030
878
PRS051 Parastremmatic Dwarfism 29 0.030
879
MSL001 Measles 61 0.030
880
OMN001 Omenn Syndrome 61 0.030
881
APP008 Appendicitis 61 0.030
882
P NRM001 Neuromyelitis Optica 55 0.030
883
EXT034 Extrinsic Allergic Alveolitis 58 0.030
884
CYS008 Cystic Echinococcosis 48 0.030
885
LYM021 Lymphadenitis 58 0.030
886
ADL030 Adult-Onset Still's Disease 57 0.030
887
FRN022 Frontofacionasal Dysplasia 25 0.030
888
OST017 Osteomyelitis 60 0.030
889
P LCH002 Lichen Planus 61 0.030
890
TNS005 Tonsillitis 58 0.030
891
ACR107 Acrofacial Dysostosis, Palagonia Type 18 0.030
892
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 18 0.030
893
MXD005 Mixed Connective Tissue Disease 63 0.030
894
P HMR012 Hemorrhagic Fever 55 0.030
895
CTN014 Cutaneous Mastocytosis 49 0.030
896
LYM027 Lymphopenia 54 0.030
897
CHR209 Chromosome 17p Duplication 21 0.030
898
FTL007 Fetal Hydantoin Syndrome 28 0.030
899
c BCT007 Bacterial Meningitis 55 0.030
900
49X001 49, Xxxxx 19 0.030
901
FSC002 Fascioliasis 39 0.030
902
SCK005 Sickle Cell Disease 51 0.030
903
CHR252 Chromosome 5p Duplication 16 0.030
904
CHR416 Chromosome 17q Deletion 15 0.030
905
OPT009 Optic Neuritis 48 0.030
906
OBS001 Obstructive Jaundice 47 0.030
907
INF034 Infective Endocarditis 50 0.030
908
NPH004 Nephropathia Epidemica 39 0.030
909
CHR266 Chromosome 8p23.1 Deletion 20 0.030
910
c ATM024 Autoimmune Pancreatitis 46 0.030
911
DYS045 Dysosteosclerosis 22 0.030
912
49X002 49,xxxxy Syndrome 26 0.030
913
ORL013 Oral Lichen Planus 53 0.030
914
c SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 13 0.030
915
CYT008 Cytomegalovirus Infection 51 0.030
916
MLK006 Milk Allergy 50 0.030
917
SPN113 Spinocerebellar Ataxia with Dysmorphism 17 0.030
918
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 15 0.030
919
CCC002 Coccidiosis 49 0.030
920
HRS002 Hersh Podruch Weisskopk Syndrome 15 0.030
921
CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 11 0.030
922
MCR191 Microscopic Colitis 46 0.030
923
c ATS082 Autosomal Dominant Robinow Syndrome 36 0.030
924
DSS024 Disease of Anatomical Entity 40 0.030
925
P MDL005 Medulloblastoma 76 0.029
926
OTS002 Otospondylomegaepiphyseal Dysplasia 50 0.029
927
YNS002 Yunis-Varon Syndrome 36 0.029
928
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 27 0.029
929
P NPH012 Nephrotic Syndrome 55 0.029
930
P CNG015 Congenital Diaphragmatic Hernia 58 0.029
931
P SMT009 Smith-Mccort Dysplasia 35 0.029
932
MRS004 Marshall-Smith Syndrome 42 0.029
933
INT007 Intermediate Coronary Syndrome 52 0.029
934
ANG049 Angioedema Induced by Ace Inhibitors 35 0.029
935
c DSB005 Desbuquois Dysplasia 2 21 0.029
936
c SMT018 Smith-Mccort Dysplasia 2 22 0.029
937
SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 17 0.029
938
P PLN008 Peeling Skin Syndrome 45 0.029
939
CNT099 Contractural Arachnodactyly, Congenital 39 0.029
940
P GCH001 Gaucher's Disease 63 0.029
941
ACR008 Acrocallosal Syndrome 51 0.029
942
P STR020 Strabismus 55 0.029
943
P BRD002 Bardet-Biedl Syndrome 64 0.029
944
c EHL027 Ehlers-Danlos Syndrome, Type Viic 33 0.029
945
LPR018 Leprechaunism 59 0.029
946
ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45 0.029
947
GNT031 Genitopatellar Syndrome 41 0.029
948
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 45 0.029
949
P FNC043 Fanconi Anemia, Complementation Group E 45 0.029
950
c LTH007 Lethal Congenital Contracture Syndrome 1 38 0.029
951
HRP004 Herpes Zoster 56 0.029
952
PKL001 Poikiloderma with Neutropenia 43 0.029
953
c DMN023 Diamond-Blackfan Anemia 1 39 0.029
954
TKY002 Takayasu Arteritis 60 0.029
955
P PLY017 Polyarteritis Nodosa 54 0.029
956
CHR492 Chromosome 13q14 Deletion Syndrome 38 0.029
957
c MCL046 Mucolipidosis Iii Alpha/beta 37 0.029
958
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 23 0.029
959
c MCL062 Mucolipidosis Ii Alpha/beta 47 0.029
960
c ATM003 Autoimmune Thyroiditis 59 0.029
961
LST001 Listeriosis 53 0.029
962
BRL010 Buruli Ulcer 47 0.029
963
c NNN011 Noonan Syndrome 4 36 0.029
964
P KRT007 Keratoconus 48 0.029
965
P HYP040 Hypospadias 58 0.029
966
ACT049 Acute Disseminated Encephalomyelitis 50 0.029
967
TCK001 Tick-Borne Encephalitis 49 0.029
968
c NNN012 Noonan Syndrome 5 32 0.029
969
CRM001 Crimean-Congo Hemorrhagic Fever 53 0.029
970
RDD003 Riddle Syndrome 42 0.029
971
HMR004 Hemorrhagic Fever with Renal Syndrome 52 0.029
972
IPX001 Ipex Syndrome 35 0.029
973
c BRC060 Brachydactyly, Type E2 19 0.029
974
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.029
975
HMF010 Hemifacial Microsomia with Radial Defects 20 0.029
976
P LNR015 Linear Skin Defects with Multiple Congenital Anomalies 26 0.029
977
CMP002 Campylobacteriosis 47 0.029
978
MYC073 Mycobacterium Tuberculosis, Susceptibility to Mycobacterium Tuberculosis, Protection Against, Included 36 0.029
979
DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 20 0.029
980
HPR003 Heparin-Induced Thrombocytopenia 45 0.029
981
SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 16 0.029
982
c MNT212 Mental Retardation, Autosomal Dominant 26 19 0.029
983
PLR001 Pleural Tuberculosis 47 0.029
984
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 28 0.029
985
BCT002 Bacterial Vaginosis 53 0.029
986
c CNG124 Congenital Rubella 40 0.029
987
DXT001 Dextrocardia 44 0.029
988
HYP085 Hypothalamic Disease 43 0.029
989
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 20 0.029
990
c CHR417 Chronic Graft Versus Host Disease 50 0.029
991
P SCL015 Scleritis 49 0.029
992
HYP063 Hypersplenism 49 0.029
993
PHT003 Phototoxic Dermatitis 37 0.029
994
PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 15 0.029
995
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 15 0.029
996
MYP111 Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 17 0.029
997
SYM002 Sympathetic Ophthalmia 41 0.029
998
AXL004 Axial Mesodermal Dysplasia Spectrum 20 0.029
999
CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 16 0.029
1000
P PRG124 Progeroid Syndrome, Congenital, Petty Type 16 0.029
1001
P RSM001 Rasmussen Encephalitis 42 0.029
1002
BNN003 Bone Inflammation Disease 46 0.029
1003
AST010 Astley-Kendall Syndrome 12 0.029
1004
LYM006 Lymphoepithelioma-Like Carcinoma 42 0.029
1005
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 0.029
1006
P TRN034 Transverse Myelitis 43 0.029
1007
P GLP001 Geleophysic Dysplasia 39 0.029
1008
CMB021 Combined Pituitary Hormone Deficiency 36 0.029
1009
CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 12 0.029
1010
HYD021 Hydrocephalus Obesity Hypogonadism 11 0.029
1011
FTD001 Foot Drop 34 0.029
1012
P PMP005 Pemphigus Vulgaris 47 0.029
1013
DST038 Distal Monosomy 7q36 11 0.029
1014
DST045 Distal Trisomy 6p 14 0.029
1015
6Q1001 6q16 Deletion Syndrome 14 0.029
1016
NND003 Non-Distal Trisomy 10q 13 0.029
1017
15Q003 15q14 Microdeletion Syndrome 12 0.029
1018
16P003 16p13.11 Microdeletion Syndrome 13 0.029
1019
HRR003 Herrmann Opitz Craniosynostosis 12 0.029
1020
HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 13 0.029
1021
EXT035 Extrinsic Cardiomyopathy 38 0.029
1022
THY007 Thymus Lipoma 24 0.029
1023
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.029
1024
INT295 Intellectual Disability-Polydactyly-Uncombable Hair Syndrome 11 0.029
1025
PLY088 Polyvalvular Heart Disease Syndrome 12 0.029
1026
IMM006 Immune System Organ Benign Neoplasm 26 0.029
1027
INT287 Intellectual Disability-Hypotonia-Skin Hyperpigmentation Syndrome 11 0.029
1028
MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 10 0.029
1029
SHL007 Shoulder and Girdle Defects-Familial Intellectual Disability Syndrome 10 0.029
1030
SPN146 Spondylometaphyseal Dysplasia East-African Type 5 0.029
1031
c LGH008 Leigh-Like Syndrome 23 0.029
1032
P WVR001 Weaver Syndrome 54 0.028
1033
c CNG191 Congenital Disorder of Glycosylation, Type Iia 32 0.028
1034
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 33 0.028
1035
PSD009 Pseudohermaphroditism 39 0.028
1036
P OCL013 Oculodentodigital Dysplasia 58 0.028
1037
P KLP003 Klippel-Feil Syndrome 47 0.028
1038
c DGT005 Digital Arthropathy-Brachydactyly, Familial 36 0.028
1039
SPC010