Search results for short stature

1993 hits were found for short stature

# Family MCID Name MIFTS Score
1
P SHR029 Short Syndrome 54 4.911
2
MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29 3.765
3
P MRG008 Meier-Gorlin Syndrome 1 42 3.571
4
MYH012 Myhre Syndrome 41 3.343
5
KBG001 Kbg Syndrome 51 3.335
6
SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 25 3.332
7
MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 36 3.319
8
SHR108 Short Stature, Idiopathic, X-Linked 29 3.140
9
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33 3.119
10
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 28 3.087
11
P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 20 3.087
12
SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29 3.086
13
ECT073 Ectodermal Dysplasia/short Stature Syndrome 21 3.079
14
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 20 3.079
15
SHR023 Short Stature Syndrome, Brussels Type 19 2.835
16
FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 30 2.831
17
WDM004 Wiedemann-Steiner Syndrome 42 2.825
18
HYP648 Hypertension and Brachydactyly Syndrome 26 2.816
19
DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 22 2.816
20
PTT044 Pituitary Hormone Deficiency, Combined, 4 23 2.802
21
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31 2.792
22
SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 21 2.614
23
P THR117 Three M Syndrome 1 52 2.570
24
PRG023 Progeroid Short Stature with Pigmented Nevi 32 2.554
25
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19 2.548
26
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22 2.541
27
GMS002 Gms Syndrome 20 2.540
28
GRW026 Growth Hormone Insensitivity, Partial 27 2.536
29
SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26 2.531
30
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26 2.524
31
MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 24 2.520
32
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 2.516
33
c MCR228 Microphthalmia, Syndromic 13 24 2.507
34
SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 17 2.493
35
MCR072 Microdontia Hypodontia Short Stature 4 2.340
36
ALG003 Al Gazali Aziz Salem Syndrome 11 2.326
37
SBR011 Subaortic Stenosis--Short Stature Syndrome 20 2.220
38
DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 16 2.214
39
DNT045 Dental Anomalies and Short Stature 24 2.208
40
SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 22 2.206
41
CSN001 Cousin Syndrome 28 2.204
42
CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 16 2.202
43
SHR084 Short Stature with Nonspecific Skeletal Abnormalities 16 2.202
44
MCR327 Microcephaly, Short Stature, and Limb Abnormalities 17 2.201
45
CHP002 Chops Syndrome 40 2.201
46
GRW023 Growth Hormone Deficiency, Isolated Partial 29 2.197
47
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21 2.197
48
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21 2.197
49
c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28 2.195
50
SHR065 Short Stature with Microcephaly and Distinctive Facies 17 2.195
51
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 2.192
52
STL007 Steel Syndrome 27 2.191
53
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 29 2.188
54
P TRC102 Trichothiodystrophy 1, Photosensitive 59 2.186
55
SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 18 2.186
56
c FNG009 Feingold Syndrome 2 22 2.182
57
OST149 Osteolysis Syndrome, Recessive 19 2.180
58
DWR002 Dauwerse-Peters Syndrome 7 2.151
59
c WLL037 Weill-Marchesani Syndrome 2 30 1.894
60
LRN002 Laron Syndrome 63 1.861
61
AYM001 Ayme-Gripp Syndrome 40 1.856
62
BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18 1.825
63
MTP004 Metaphyseal Acroscyphodysplasia 23 1.824
64
P CFF008 Coffin-Siris Syndrome 1 59 1.821
65
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20 1.815
66
SYS006 Say Syndrome 31 1.813
67
GRR002 Gurrieri Syndrome 25 1.813
68
TRG019 Trigonocephaly with Short Stature and Developmental Delay 22 1.813
69
EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 18 1.813
70
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 8 1.813
71
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 7 1.813
72
CLF019 Cleft Palate Short Stature Vertebral Anomalies 7 1.811
73
12Q002 12q14 Microdeletion Syndrome 31 1.807
74
PFF010 Pfeiffer-Palm-Teller Syndrome 17 1.807
75
FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 14 1.807
76
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 1.807
77
SHR105 Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay 17 1.803
78
JNT004 Joint Laxity, Short Stature, and Myopia 12 1.803
79
LMB025 Lumbar Malsegmentation Short Stature 3 1.801
80
SHR107 Short Stature-Obesity Syndrome 15 1.796
81
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24 1.794
82
RDR002 Rodrigues Blindness 20 1.794
83
RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 19 1.794
84
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12 1.794
85
ASY006 Asymmetric Short Stature Syndrome 10 1.794
86
SYM004 Say Meyer Syndrome 9 1.794
87
MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 8 1.794
88
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4 1.794
89
JRG001 Jorgenson Lenz Syndrome 22 1.791
90
c FML169 Familial Osteochondritis Dissecans 29 1.786
91
ACR117 Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 6 1.786
92
DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6 1.777
93
OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5 1.777
94
P THN009 Thanatophoric Dysplasia, Type I 66 1.775
95
HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 13 1.757
96
BRK005 Berk-Tabatznik Syndrome 7 1.757
97
CLD006 Cleidorhizomelic Syndrome 16 1.703
98
CLR029 Clark-Baraitser Syndrome 24 1.545
99
SHR021 Short Stature Prognathism Short Femoral Necks 2 1.524
100
PSY015 Psychosocial Short Stature 14 1.370
101
FLT006 Floating-Harbor Syndrome 45 1.351
102
MSM004 Mesomelia-Synostoses Syndrome 29 1.312
103
DBW001 Dubowitz Syndrome 44 1.311
104
CRN070 Corneodermatoosseous Syndrome 23 1.310
105
SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17 1.309
106
GRW003 Growth Hormone Insensitivity with Immunodeficiency 21 1.307
107
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20 1.306
108
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18 1.306
109
CRN266 Craniofacial Dyssynostosis with Short Stature 24 1.303
110
GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 7 1.303
111
PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19 1.303
112
GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 18 1.303
113
SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 13 1.301
114
SHR016 Short Stature Deafness Neutrophil Dysfunction 6 1.300
115
c LRS002 Larsen-Like Syndrome 42 1.299
116
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21 1.299
117
IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 21 1.294
118
INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9 1.294
119
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7 1.294
120
EXT038 Extrasystoles Short Stature Hyperpigmentation Microcephaly 3 1.294
121
RCH010 Richieri-Costa/guion-Almeida Syndrome 26 1.292
122
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 1.292
123
SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 11 1.292
124
DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11 1.292
125
SHR111 Short Stature and Facioauriculothoracic Malformations 11 1.292
126
CRN083 Craniofacial Dyssynostosis 20 1.289
127
ARC009 Auriculoosteodysplasia 17 1.289
128
SHR027 Short Stature Wormian Bones Dextrocardia 11 1.288
129
SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 6 1.288
130
c WLL011 Weill-Marchesani-Like Syndrome 24 1.286
131
STR088 Stratton-Parker Syndrome 21 1.286
132
CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19 1.286
133
XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17 1.286
134
ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 15 1.286
135
MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13 1.286
136
AST053 Asthma, Short Stature, and Elevated Iga 7 1.286
137
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 1.286
138
NRR003 Narrow Oral Fissure Short Stature Cone Shaped Epiphyses 3 1.286
139
MYL073 Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 16 1.284
140
KWR001 Kowarski Syndrome 20 1.283
141
SHR025 Short Stature Valvular Heart Disease 3 1.283
142
SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3 1.283
143
SHR014 Short Stature Contractures Hypotonia 3 1.280
144
OLV004 Oliver-Mcfarlane Syndrome 33 1.278
145
c MNT166 Mental Retardation, Autosomal Recessive 39 21 1.278
146
INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 13 1.278
147
SVR046 Severe Lateral Tibial Bowing with Short Stature 6 1.278
148
MLC006 Malocclusion and Short Stature 5 1.278
149
MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 3 1.278
150
SYM010 Symphalangism Short Stature Accessory Testis 3 1.278
151
ART036 Arthritis Short Stature Deafness 2 1.278
152
THM004 Thumb Absent Short Stature Immune Deficiency 2 1.278
153
THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2 1.278
154
ANK003 Ankle Defects Short Stature 2 1.278
155
HYL003 Hyalinosis Systemic Short Stature 2 1.278
156
SYN029 Synostosis of Talus and Calcaneus Short Stature 2 1.278
157
KNN010 Kennerknecht Syndrome 19 1.275
158
PLT011 Pilotto Syndrome 17 1.275
159
SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 11 1.275
160
SHR019 Short Stature Microcephaly Seizures Deafness 2 1.274
161
SHR024 Short Stature Talipes Natal Teeth 2 1.274
162
SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2 1.274
163
SHR017 Short Stature Dysmorphic Face Pelvic Scapula Dysplasia 2 1.274
164
SHR020 Short Stature Monodactylous Ectrodactyly Cleft Palate 2 1.274
165
SHR022 Short Stature Robin Sequence Cleft Mandible Hand Anomalies Clubfoot 2 1.274
166
CNS012 Cono-Spondylar Dysplasia 15 1.272
167
ACD008 Acid-Labile Subunit Deficiency 46 1.268
168
ISL115 Isolated Growth Hormone Deficiency, Type Iii 42 1.268
169
c BMN004 Biemond Syndrome Ii 21 1.268
170
c OVR107 Ovarian Dysgenesis 4 20 1.268
171
HND005 Hand and Foot Deformity with Flat Facies 16 1.268
172
SYF001 Say-Field-Coldwell Syndrome 9 1.268
173
DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6 1.268
174
RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6 1.268
175
MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5 1.268
176
SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5 1.268
177
INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3 1.268
178
XLN128 X-Linked Intellectual Disability, Abidi Type 16 1.257
179
DVR003 Devriendt Syndrome 13 1.257
180
VLJ001 Viljoen Kallis Voges Syndrome 10 1.257
181
TNK001 Tonoki Syndrome 10 1.257
182
THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8 1.257
183
SCH020 Schaap Taylor Baraitser Syndrome 8 1.257
184
CHD003 Chudley Rozdilsky Syndrome 7 1.257
185
ZRR001 Zerres Rietschel Majewski Syndrome 7 1.257
186
ALG004 Al Gazali Khidr Prem Chandran Syndrome 6 1.257
187
ZRS001 Zori Stalker Williams Syndrome 6 1.257
188
HNT008 Hunter Rudd Hoffmann Syndrome 5 1.257
189
DRM015 Dermoids of Cornea 19 1.242
190
THY064 Thyroid Hormone Metabolism, Abnormal 19 1.242
191
c SPS042 Spastic Paraplegia 9 19 1.242
192
RNN006 Reunion Island Larsen Syndrome 18 1.242
193
HNT009 Hunter-Mcalpine Syndrome 13 1.242
194
MGR005 Megarbane Syndrome 9 1.242
195
c FCS008 Fucosidosis Type 1 8 1.242
196
PFF002 Pfeiffer Kapferer Syndrome 6 1.242
197
PFF003 Pfeiffer Mayer Syndrome 6 1.242
198
BDH001 Boudhina Yedes Khiari Syndrome 6 1.242
199
CNT052 Cantalamessa Baldini Ambrosi Syndrome 5 1.242
200
MLN017 Milner Khallouf Gibson Syndrome 5 1.242
201
THD001 Theodor Hertz Goodman Syndrome 5 1.242
202
FNG007 Feingold Trainer Syndrome 4 1.242
203
RMM001 Rommen Mueller Sybert Syndrome 4 1.242
204
SLV009 Slavotinek Pike Mills Hurst Syndrome 4 1.242
205
DRC002 D Ercole Syndrome 3 1.242
206
CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3 1.242
207
GRW036 Growth Control, Y-Chromosome Influenced 33 0.225
208
GRW007 Growth Hormone Deficiency 52 0.161
209
AGN016 Aging 65 0.156
210
P MCR010 Microcephaly 57 0.149
211
INS024 Insulin-Like Growth Factor I 83 0.146
212
DWR001 Dwarfism 48 0.141
213
P BRC006 Brachydactyly 57 0.119
214
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.109
215
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.109
216
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.109
217
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.109
218
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.109
219
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.109
220
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.109
221
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.109
222
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.109
223
TTH032 Tooth Size 44 0.108
224
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.106
225
P TRN020 Turner Syndrome 69 0.103
226
c BLD140 Blood Group, I System 37 0.098
227
P ANR048 Aniridia 1 68 0.098
228
ANR038 Anorexia Nervosa 1 21 0.095
229
BLD137 Blood Group--Ahonen 17 0.095
230
P PLY006 Polydactyly 57 0.094
231
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 37 0.093
232
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.092
233
LRW001 Leri-Weill Dyschondrosteosis 41 0.090
234
RTN023 Retinitis 52 0.089
235
P HRT032 Heart Disease 80 0.088
236
P HPT021 Hepatitis 75 0.087
237
HJD001 Hajdu-Cheney Syndrome 64 0.085
238
P NNN008 Noonan Syndrome 1 77 0.082
239
P DBT009 Diabetes Mellitus 72 0.081
240
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.081
241
HYP080 Hypogonadism 54 0.079
242
c BRN108 Branchiootic Syndrome 1 47 0.078
243
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55 0.077
244
ELL001 Ellis-Van Creveld Syndrome 61 0.077
245
ACR043 Acromicric Dysplasia 37 0.077
246
HYP042 Hypochondroplasia 57 0.076
247
ISL003 Isolated Growth Hormone Deficiency 57 0.076
248
ACH004 Achondroplasia 67 0.074
249
LNG040 Langer Mesomelic Dysplasia 34 0.074
250
P ART022 Arthritis 77 0.074
251
c DSB006 Desbuquois Dysplasia 1 39 0.073
252
P KDN018 Kidney Disease 69 0.072
253
ALR002 Al-Raqad Syndrome 30 0.071
254
HPT082 Hepatic Adenomas, Familial 52 0.071
255
ARS001 Aarskog-Scott Syndrome 55 0.070
256
CRB009 Cerebritis 41 0.070
257
P CLC063 Celiac Disease 1 65 0.069
258
SPN154 Spondyloperipheral Dysplasia 30 0.069
259
ISC004 Ischemia 66 0.068
260
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 55 0.068
261
AST005 Asthma 83 0.068
262
SKL017 Skeletal Dysplasias 48 0.068
263
P SCL018 Scoliosis 56 0.068
264
c BRC109 Brachydactyly, Type E1 35 0.067
265
RNP003 Renpenning Syndrome 1 53 0.067
266
P GND004 Gonadal Dysgenesis 50 0.066
267
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54 0.066
268
ACR002 Acrocapitofemoral Dysplasia 25 0.065
269
c EPP017 Epiphyseal Dysplasia, Multiple, 1 31 0.065
270
PSD012 Pseudoachondroplasia 52 0.065
271
NCL006 Nicolaides-Baraitser Syndrome 45 0.065
272
SYN005 Synostosis 50 0.065
273
c PSD108 Pseudohypoparathyroidism, Type Ia 57 0.065
274
ACR110 Acrodysostosis 1 with or Without Hormone Resistance 33 0.065
275
P THY032 Thyroiditis 56 0.065
276
P CTR002 Cataract 60 0.065
277
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42 0.065
278
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.065
279
STH001 Saethre-Chotzen Syndrome 64 0.064
280
OST012 Osteoarthritis 88 0.064
281
c PSD117 Pseudohypoparathyroidism, Type Ic 39 0.064
282
c BRC078 Brachydactyly, Type A1 49 0.064
283
CHN057 Chondrodysplasia, Grebe Type 36 0.063
284
CLF027 Cleft Palate, Isolated 61 0.063
285
P BRC003 Brachyolmia 30 0.062
286
SCH016 Schimke Immunoosseous Dysplasia 47 0.062
287
c RBN009 Robinow Syndrome, Autosomal Recessive 42 0.062
288
DYG001 Dyggve-Melchior-Clausen Disease 31 0.061
289
c CNG413 Congenital Short Bowel Syndrome 39 0.061
290
PTR032 Peters-Plus Syndrome 60 0.060
291
ACR011 Acromesomelic Dysplasia, Maroteaux Type 54 0.060
292
SPN008 Spondyloepiphyseal Dysplasia Congenita 60 0.060
293
P LRS001 Larsen Syndrome 47 0.060
294
CDS002 Codas Syndrome 32 0.060
295
P PTS002 Ptosis 50 0.059
296
P PRD006 Prader-Willi Syndrome 66 0.059
297
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.059
298
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.059
299
P CRN300 Coronary Heart Disease 1 57 0.059
300
c BRC045 Brachyolmia Type 3 27 0.058
301
P LVR013 Liver Disease 76 0.058
302
SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 31 0.058
303
CHR588 Chromosome 8q22.1 Duplication Syndrome 25 0.058
304
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 44 0.058
305
c CHR089 Chronic Kidney Failure 72 0.058
306
WLL001 Williams-Beuren Syndrome 63 0.058
307
KNS001 Kniest Dysplasia 53 0.058
308
P CLD001 Cleidocranial Dysplasia 63 0.058
309
BDY007 Body Mass Index Quantitative Trait Locus 1 23 0.057
310
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22 0.057
311
P CRV039 Cervicitis 49 0.057
312
P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 25 0.057
313
DWN001 Down Syndrome 70 0.056
314
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.056
315
CRT002 Cartilage-Hair Hypoplasia 58 0.056
316
NRN002 Neuronitis 43 0.056
317
c ACH041 Achondrogenesis, Type Ii 53 0.056
318
SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28 0.056
319
PFF001 Pfeiffer Syndrome 74 0.055
320
CFF002 Coffin-Lowry Syndrome 58 0.055
321
ACR099 Acrofacial Dysostosis, Catania Type 31 0.055
322
c ACH042 Achondrogenesis, Type Ib 46 0.055
323
P DRR001 Diarrhea 60 0.055
324
PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 0.055
325
CST001 Costello Syndrome 67 0.055
326
P MSC005 Muscular Dystrophy 66 0.055
327
KYP002 Kyphomelic Dysplasia 27 0.055
328
c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20 0.055
329
P SLV001 Silver-Russell Syndrome 57 0.054
330
CTY001 Cat Eye Syndrome 49 0.054
331
SPN331 Spondyloocular Syndrome 34 0.054
332
SPN348 Spondylometaphyseal Dysplasia, Axial 30 0.054
333
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.054
334
DST005 Diastrophic Dysplasia 54 0.054
335
P FNG006 Feingold Syndrome 1 44 0.054
336
c SPN330 Spondylocostal Dysostosis 5 41 0.054
337
c KNN007 Kenny-Caffey Syndrome, Type 2 30 0.054
338
P NRP001 Neuropathy 63 0.054
339
c ACH033 Achondrogenesis, Type Ia 46 0.054
340
CHN016 Cohen Syndrome 48 0.054
341
WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44 0.054
342
OST062 Osteoarthritis with Mild Chondrodysplasia 43 0.054
343
SPN060 Spondylocarpotarsal Synostosis Syndrome 41 0.054
344
OST044 Osteoglophonic Dysplasia 50 0.053
345
OPS002 Opsismodysplasia 38 0.053
346
SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17 0.053
347
c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26 0.053
348
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 0.053
349
P FNC043 Fanconi Anemia, Complementation Group E 52 0.053
350
P RBN002 Robinow Syndrome 48 0.053
351
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.053
352
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 0.053
353
P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33 0.053
354
BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 26 0.053
355
P EPL164 Epilepsy 70 0.053
356
HYP056 Hypoglycemia 62 0.053
357
CLF001 Cleft Lip 54 0.052
358
CMP005 Campomelic Dysplasia 58 0.052
359
MRT007 Martsolf Syndrome 41 0.052
360
CHR543 Chromosome 2q37 Deletion Syndrome 34 0.052
361
P LYM118 Lymphoma 71 0.052
362
c EPP014 Epiphyseal Dysplasia, Multiple, 4 28 0.052
363
PYC001 Pycnodysostosis 51 0.052
364
SLT005 Solitary Median Maxillary Central Incisor 36 0.052
365
SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 23 0.052
366
P KBK002 Kabuki Syndrome 1 62 0.052
367
STV003 Stuve-Wiedemann Syndrome 38 0.052
368
P MRN003 Marinesco-Sjogren Syndrome 38 0.051
369
MTT002 Metatropic Dysplasia 35 0.051
370
ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 36 0.051
371
ACR013 Acrodysostosis 53 0.051
372
PRG123 Progeroid Syndrome, Neonatal 30 0.051
373
SHW002 Shwachman-Diamond Syndrome 63 0.051
374
P HLL001 Hallermann-Streiff Syndrome 58 0.051
375
c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 44 0.051
376
SMT008 Smith-Magenis Syndrome 54 0.050
377
WYR002 Weyers Acrofacial Dysostosis 36 0.050
378
c PSD047 Pseudo-Turner Syndrome 15 0.050
379
FMR018 Femoral-Facial Syndrome 34 0.050
380
SPS057 Spasticity 41 0.050
381
P MYP006 Myopia 56 0.050
382
SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 32 0.050
383
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24 0.050
384
c BRC081 Brachydactyly, Type C 38 0.050
385
MLN014 Melnick-Needles Syndrome 37 0.050
386
NRF008 Neurofibromatosis-Noonan Syndrome 47 0.050
387
BLL001 Baller-Gerold Syndrome 51 0.049
388
MRS002 Marshall Syndrome 45 0.049
389
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.049
390
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21 0.049
391
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.049
392
P CRN108 Cranioectodermal Dysplasia 1 53 0.049
393
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33 0.049
394
SCH030 Schneckenbecken Dysplasia 32 0.049
395
OSB001 Osebold-Remondini Syndrome 23 0.049
396
P HYP086 Hypothyroidism 62 0.049
397
c THN010 Thanatophoric Dysplasia, Type Ii 51 0.049
398
c GLP003 Geleophysic Dysplasia 1 34 0.049
399
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 31 0.049
400
MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22 0.049
401
HYP060 Hyperinsulinism 56 0.049
402
YNS002 Yunis-Varon Syndrome 48 0.049
403
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.048
404
c GLY003 Glycogen Storage Disease Iii 56 0.048
405
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53 0.048
406
P RTN008 Retinitis Pigmentosa 81 0.048
407
c TRC092 Trichorhinophalangeal Syndrome, Type I 48 0.048
408
c ART120 Arthrogryposis, Distal, Type 3 47 0.048
409
NRM019 Neuraminidase Deficiency 47 0.048
410
BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 28 0.048
411
DYS180 Dyschondrosteosis and Nephritis 18 0.048
412
WLF002 Wolf-Hirschhorn Syndrome 54 0.048
413
SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 20 0.048
414
MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49 0.048
415
SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44 0.048
416
P MYC084 Mycobacterium Tuberculosis 1 69 0.048
417
PLC008 Placenta Disease 48 0.048
418
CHN054 Chondrodysplasia, Blomstrand Type 45 0.047
419
SCH068 Schwartz-Jampel Syndrome, Type 1 54 0.047
420
SCH071 Schaaf-Yang Syndrome 33 0.047
421
P RNG031 Ring Chromosome Y Syndrome 29 0.047
422
P CCK001 Cockayne Syndrome 64 0.047
423
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.047
424
P MLT007 Multiple Epiphyseal Dysplasia 57 0.047
425
P LNG032 Lung Cancer 99 0.047
426
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 25 0.047
427
ACR101 Acrocraniofacial Dysostosis 23 0.047
428
EKN001 Eiken Syndrome 21 0.047
429
NSD003 Nasodigitoacoustic Syndrome 21 0.047
430
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.047
431
c MCP024 Mucopolysaccharidosis Type Vi 61 0.047
432
P RTH001 Rothmund-Thomson Syndrome 57 0.047
433
P WLL002 Weill-Marchesani Syndrome 50 0.047
434
P ANX007 Anauxetic Dysplasia 1 36 0.047
435
DYS045 Dysosteosclerosis 28 0.047
436
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 24 0.047
437
c OTP006 Otopalatodigital Syndrome, Type I 38 0.047
438
P ACH011 Achondrogenesis 44 0.047
439
ANR040 Aneurysm 61 0.047
440
P STC001 Stickler Syndrome 56 0.046
441
NTV001 Native American Myopathy 40 0.046
442
c MCL016 Mucolipidosis Iii Gamma 39 0.046
443
ABR009 Abruzzo-Erickson Syndrome 33 0.046
444
c EPP012 Epiphyseal Dysplasia, Multiple, 2 22 0.046
445
c EPP015 Epiphyseal Dysplasia, Multiple, 3 21 0.046
446
CHR382 Chromosome 18q Deletion Syndrome 35 0.046
447
c ORF035 Orofaciodigital Syndrome Iv 34 0.046
448
ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33 0.046
449
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23 0.046
450
WRN001 Werner Syndrome 70 0.046
451
P HYP265 Hypotonia 40 0.046
452
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 29 0.046
453
MTP028 Metaphyseal Dysplasia, Spahr Type 28 0.046
454
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28 0.046
455
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28 0.046
456
FNT003 Fountain Syndrome 25 0.046
457
ARM006 Armfield X-Linked Mental Retardation Syndrome 21 0.046
458
PLV015 Pelvis-Shoulder Dysplasia 21 0.046
459
SPN349 Spondylometaphyseal Dysplasia, Type A4 18 0.046
460
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.046
461
HYP066 Hyperglycemia 64 0.046
462
SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 25 0.046
463
RVL002 Ruvalcaba Syndrome 37 0.046
464
SMT004 Smith-Lemli-Opitz Syndrome 70 0.045
465
P CRN015 Cornelia De Lange Syndrome 65 0.045
466
c ATS082 Autosomal Dominant Robinow Syndrome 43 0.045
467
KTL001 Keutel Syndrome 39 0.045
468
ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 33 0.045
469
P RHM011 Rheumatoid Arthritis 91 0.045
470
CLF004 Cleft Lip/palate 49 0.045
471
c PRM196 Premature Ovarian Failure 1 68 0.045
472
P SJG002 Sjogren-Larsson Syndrome 52 0.045
473
WDH003 Woodhouse-Sakati Syndrome 47 0.045
474
ATK002 Atkin-Flaitz Syndrome 20 0.045
475
CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 16 0.045
476
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.045
477
EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48 0.045
478
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.045
479
c BRT038 Baraitser-Winter Syndrome 1 37 0.045
480
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35 0.045
481
c ART147 Arthrogryposis, Distal, Type 7 35 0.045
482
STY001 Satoyoshi Syndrome 32 0.045
483
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31 0.045
484
FCL009 Focal Dermal Hypoplasia 57 0.045
485
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47 0.045
486
CRD002 Cri-Du-Chat Syndrome 47 0.045
487
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.045
488
P DYS007 Dyskeratosis Congenita 68 0.044
489
P LPD010 Lipodystrophy 57 0.044
490
PSD014 Pseudopseudohypoparathyroidism 56 0.044
491
ULN003 Ulnar-Mammary Syndrome 50 0.044
492
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 22 0.044
493
FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19 0.044
494
THR033 Thoracomelic Dysplasia 19 0.044
495
ASP005 Asphyxiating Thoracic Dystrophy 43 0.044
496
ENT004 Enthesopathy 38 0.044
497
P DMN001 Diamond-Blackfan Anemia 70 0.044
498
P NJM001 Nijmegen Breakage Syndrome 69 0.044
499
BLM001 Bloom Syndrome 62 0.044
500
P HYP083 Hypopituitarism 59 0.044
501
CRD221 Cardiospondylocarpofacial Syndrome 39 0.044
502
MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 32 0.044
503
MDL024 Madelung Deformity 26 0.044
504
ALZ030 Alazami Syndrome 24 0.044
505
MLT163 Multiple Pterygium Syndrome, Escobar Variant 53 0.044
506
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51 0.044
507
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 0.044
508
MLB001 Mulibrey Nanism 46 0.044
509
PGT008 Paget Disease of Bone 5, Juvenile-Onset 44 0.044
510
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41 0.044
511
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 38 0.044
512
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27 0.044
513
CXR001 Coxoauricular Syndrome 16 0.044
514
SPS003 Spastic Diplegia 55 0.043
515
HRL003 Hurler Syndrome 55 0.043
516
GRL004 Gorlin-Chaudhry-Moss Syndrome 31 0.043
517
FRS007 Frias Syndrome 29 0.043
518
CHR379 Chromosome 15q26-Qter Deletion Syndrome 25 0.043
519
MCD002 Mcdonough Syndrome 24 0.043
520
VLF001 Velofacioskeletal Syndrome 18 0.043
521
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25 0.043
522
SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 21 0.043
523
PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19 0.043
524
P NRB001 Neuroblastoma 73 0.043
525
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.043
526
c BLM008 Bulimia Nervosa 2 53 0.043
527
P SMT022 Smith-Mccort Dysplasia 1 36 0.043
528
SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 20 0.043
529
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14 0.043
530
RHM027 Rheumatic Disease 62 0.043
531
P CLL015 Collagen Disease 53 0.043
532
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 42 0.043
533
P ATX030 Ataxia-Telangiectasia 80 0.043
534
P FNC027 Fanconi Anemia, Complementation Group a 78 0.043
535
c ART119 Arthrogryposis, Distal, Type 5 49 0.043
536
JHN001 Johanson-Blizzard Syndrome 48 0.043
537
c EXS019 Exostoses, Multiple, Type I 46 0.043
538
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38 0.043
539
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28 0.043
540
SND006 Sonoda Syndrome 20 0.043
541
ULN005 Ulna and Fibula, Hypoplasia of 19 0.043
542
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.042
543
c MCL046 Mucolipidosis Iii Alpha/beta 50 0.042
544
CHR211 Chromosome 18p Deletion Syndrome 43 0.042
545
TRS002 Tarsal-Carpal Coalition Syndrome 37 0.042
546
CHR501 Chromosome 17q12 Deletion Syndrome 34 0.042
547
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31 0.042
548
c BRC060 Brachydactyly, Type E2 20 0.042
549
BRN125 Branchiogenic-Deafness Syndrome 20 0.042
550
CRN224 Craniofaciofrontodigital Syndrome 18 0.042
551
P ORT004 Orthostatic Intolerance 68 0.042
552
c RBN018 Robinow Syndrome, Autosomal Dominant 1 39 0.042
553
PLL008 Pallister-Killian Syndrome 41 0.042
554
GND003 Gonadal Disease 32 0.042
555
c OMD001 Omodysplasia 1 29 0.042
556
c SMT018 Smith-Mccort Dysplasia 2 24 0.042
557
SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 16 0.042
558
P RTT002 Rett Syndrome 82 0.041
559
P PRC019 Precocious Puberty 52 0.041
560
P MWT001 Mowat-Wilson Syndrome 47 0.041
561
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43 0.041
562
BDY001 Body Dysmorphic Disorder 43 0.041
563
MCR103 Microtia 39 0.041
564
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 30 0.041
565
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22 0.041
566
DRM006 Dermatitis 67 0.041
567
OST015 Osteochondrodysplasia 54 0.041
568
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 44 0.041
569
c ANX008 Anauxetic Dysplasia 2 19 0.041
570
VLC001 Velocardiofacial Syndrome 64 0.041
571
HYP730 Hypogonadotropic Hypogonadism 56 0.041
572
PTT009 Pituitary Gland Disease 56 0.041
573
P ICH004 Ichthyosis 54 0.041
574
c ORF040 Orofaciodigital Syndrome Viii 53 0.041
575
P PLG001 Pelger-Huet Anomaly 48 0.041
576
c LBR014 Leber Congenital Amaurosis 4 48 0.041
577
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38 0.041
578
c KNN009 Kenny-Caffey Syndrome, Type 1 30 0.041
579
c NNN025 Noonan Syndrome 10 26 0.041
580
c NNN024 Noonan Syndrome 9 25 0.041
581
EVN003 Even-Plus Syndrome 25 0.041
582
PTT047 Pituitary Hormone Deficiency, Combined, 3 24 0.041
583
PTT045 Pituitary Hormone Deficiency, Combined, 1 22 0.041
584
SFR001 Sifrim-Hitz-Weiss Syndrome 22 0.041
585
CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 22 0.041
586
GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19 0.041
587
ULN024 Ulnar/fibular Ray Defect and Brachydactyly 18 0.041
588
MRF001 Marfan Syndrome 75 0.041
589
CNN005 Connective Tissue Disease 65 0.040
590
CHL068 Cholestasis 60 0.040
591
ANS023 Anus, Imperforate 50 0.040
592
SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31 0.040
593
MYL069 Myeloma, Multiple 86 0.040
594
MMS001 Momo Syndrome 32 0.040
595
c GLP004 Geleophysic Dysplasia 2 30 0.040
596
WTT002 Witteveen-Kolk Syndrome 29 0.040
597
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23 0.040
598
CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21 0.040
599
BRC115 Brachyolmia Type 1, Toledo Type 13 0.040
600
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.040
601
c NNN010 Noonan Syndrome 3 42 0.040
602
CHR667 Chromosome 3pter-P25 Deletion Syndrome 37 0.040
603
c NNN021 Noonan Syndrome 8 27 0.040
604
c BRC053 Brachyolmia Type 2 21 0.040
605
CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 17 0.040
606
THM021 Thumb Deformity and Alopecia 17 0.040
607
LWC002 Lowe Oculocerebrorenal Syndrome 62 0.040
608
MCR013 Microphthalmia 61 0.040
609
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 0.040
610
ALS001 Alstrom Syndrome 55 0.040
611
OST024 Osteoporosis-Pseudoglioma Syndrome 55 0.040
612
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53 0.040
613
STF002 Stiff Skin Syndrome 53 0.040
614
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52 0.040
615
PTT041 Pituitary Stalk Interruption Syndrome 47 0.040
616
LRN001 Laurence-Moon Syndrome 46 0.040
617
P RDL002 Radioulnar Synostosis 46 0.040
618
ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 39 0.040
619
c MCP051 Mucopolysaccharidosis, Type Ix 35 0.040
620
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35 0.040
621
c PNT037 Pontocerebellar Hypoplasia, Type 3 32 0.040
622
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30 0.040
623
c BRC047 Bruck Syndrome 1 28 0.040
624
HRY005 Hairy Elbows 27 0.040
625
WSM003 Weismann-Netter Syndrome 26 0.040
626
WTS001 Watson Syndrome 25 0.040
627
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23 0.040
628
BRN123 Branchial Arch Syndrome, X-Linked 23 0.040
629
NRF010 Neurofaciodigitorenal Syndrome 21 0.040
630
c MNT197 Mental Retardation, X-Linked, Syndromic 9 20 0.040
631
CRM007 Crome Syndrome 19 0.040
632
ARS003 Aarskog Syndrome, Autosomal Dominant 19 0.040
633
DFN312 Deafness, Congenital, with Vitiligo and Achalasia 18 0.040
634
LYM004 Lymphoid Interstitial Pneumonia 47 0.040
635
P OVR049 Ovarian Disease 58 0.040
636
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.040
637
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 25 0.040
638
c DSB005 Desbuquois Dysplasia 2 22 0.040
639
P THR014 Thrombocytopenia 65 0.039
640
PLL001 Pallister-Hall Syndrome 59 0.039
641
c OST118 Osteogenesis Imperfecta, Type Viii 43 0.039
642
c RBN020 Robinow Syndrome, Autosomal Dominant 3 27 0.039
643
c BRC080 Brachydactyly, Type A1, B 22 0.039
644
c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 18 0.039
645
DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 17 0.039
646
ATM095 Autoimmune Disease 66 0.039
647
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.039
648
P THL005 Thalassemia 65 0.039
649
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 57 0.039
650
ECT006 Ectodermal Dysplasia 57 0.039
651
P CNG411 Congenital Disorder of Glycosylation, Type in 55 0.039
652
PRP016 Paraplegia 53 0.039
653
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 51 0.039
654
CRB045 Cerebellar Hypoplasia 48 0.039
655
PTC002 Potocki-Lupski Syndrome 40 0.039
656
WRN004 Wrinkly Skin Syndrome 35 0.039
657
PRM056 Primrose Syndrome 33 0.039
658
FLP001 Filippi Syndrome 32 0.039
659
TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31 0.039
660
CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 29 0.039
661
MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 25 0.039
662
LYM123 Lymphedema-Hypoparathyroidism Syndrome 21 0.039
663
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18 0.039
664
CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 18 0.039
665
VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17 0.039
666
APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16 0.039
667
JCB001 Jacobsen Syndrome 50 0.039
668
MSC089 Mosaic Monosomy X 22 0.039
669
c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21 0.039
670
ACR096 Acromesomelic Dysplasia, Demirhan Type 20 0.039
671
DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20 0.039
672
BRC114 Brachyolmia Type 1, Hobaek Type 16 0.039
673
STT048 Stature As a Quantitative Trait 7 0.039
674
HRT031 Hartnup Disorder 48 0.038
675
c BRC079 Brachydactyly, Type A2 45 0.038
676
P CRN037 Craniosynostosis 68 0.038
677
c MCL062 Mucolipidosis Ii Alpha/beta 58 0.038
678
MTB004 Metabolic Acidosis 49 0.038
679
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 47 0.038
680
c RTS003 Ritscher-Schinzel Syndrome 1 36 0.038
681
P CRB154 Cerebrocostomandibular Syndrome 35 0.038
682
FNT005 Fontaine Progeroid Syndrome 28 0.038
683
PSD030 Pseudodiastrophic Dysplasia 26 0.038
684
WLL012 Williams-Beuren Region Duplication Syndrome 26 0.038
685
c ACR103 Acrofrontofacionasal Dysostosis 1 25 0.038
686
CRH001 Crohn's Disease 80 0.038
687
CHR222 Chromosome 1p36 Deletion Syndrome 46 0.038
688
c BRC099 Brachydactyly, Type A4 21 0.038
689
BRC095 Brachydactyly, Mononen Type 18 0.038
690
SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25 0.037
691
LGG001 Legg-Calve-Perthes Disease 59 0.037
692
P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56 0.037
693
c DWL002 Dowling-Degos Disease 1 50 0.037
694
OST022 Osteopathia Striata with Cranial Sclerosis 49 0.037
695
BSC001 Buschke-Ollendorff Syndrome 48 0.037
696
ATS010 Autosomal Recessive Disease 40 0.037
697
HRL004 Hurler-Scheie Syndrome 40 0.037
698
GLS018 Glass Syndrome 38 0.037
699
c CNG191 Congenital Disorder of Glycosylation, Type Iia 35 0.037
700
BLP004 Blepharophimosis 34 0.037
701
P ACR093 Acrofrontofacionasal Dysostosis 31 0.037
702
c MCR329 Microcephaly, Autosomal Dominant 30 0.037
703
GMZ002 Gomez-Lopez-Hernandez Syndrome 29 0.037
704
MGL033 Megalocornea-Mental Retardation Syndrome 28 0.037
705
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27 0.037
706
c EPP013 Epiphyseal Dysplasia, Multiple, 5 27 0.037
707
MND023 Mend Syndrome 25 0.037
708
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21 0.037
709
MSM019 Mesomelic Dysplasia, Savarirayan Type 20 0.037
710
c EPP026 Epiphyseal Dysplasia, Multiple, 7 16 0.037
711
c MCP004 Mucopolysaccharidosis Iv 60 0.037
712
SNS001 Sensorineural Hearing Loss 59 0.037
713
ICH054 Ichthyosis, X-Linked 59 0.037
714
c OST122 Osteogenesis Imperfecta, Type Iii 57 0.037
715
AMN001 Amenorrhea 55 0.037
716
P HYP087 Hypotrichosis 48 0.037
717
GLD006 Goldberg-Shprintzen Syndrome 48 0.037
718
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44 0.037
719
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41 0.037
720
HYL004 Hyaline Fibromatosis Syndrome 40 0.037
721
c RBN017 Robinow Syndrome, Autosomal Dominant 2 37 0.037
722
SXD001 Sex Differentiation Disease 37 0.037
723
TMP012 Temple Syndrome 34 0.037
724
HMF010 Hemifacial Microsomia with Radial Defects 31 0.037
725
c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28 0.037
726
c MNT212 Mental Retardation, Autosomal Dominant 26 26 0.037
727
WHT019 White-Sutton Syndrome 23 0.037
728
EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 21 0.037
729
DST059 Distal Trisomy 17q 20 0.037
730
RHZ008 Rhizomelic Syndrome 20 0.037
731
OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 19 0.037
732
CHR400 Chromosome 6q11-Q14 Deletion Syndrome 14 0.037
733
SPN414 Spondylometaphyseal Dysplasia, East African Type 13 0.037
734
ACR007 Acromegaly 70 0.037
735
P DRM053 Dermatitis, Atopic 68 0.037
736
MSC152 Muscular Dystrophy, Becker Type 64 0.037
737
MCR165 Microphthalmia with Limb Anomalies 45 0.037
738
RNS001 Raine Syndrome 45 0.037
739
ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29 0.037
740
HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 26 0.037
741
ACR079 Acrodysostosis with Multiple Hormone Resistance 24 0.037
742
c CRN111 Cranioectodermal Dysplasia 4 24 0.037
743
BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18 0.037
744
VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 17 0.037
745
DYG003 Dyggve-Melchior-Clausen Syndrome, X-Linked 12 0.037
746
P MYP004 Myopathy 69 0.037
747
c FBR029 Fibrochondrogenesis 1 23 0.037
748
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 22 0.037
749
KNS006 Kniest-Like Dysplasia, Lethal 20 0.037
750
P MNN013 Meningitis 71 0.036
751
P SLP006 Sleep Apnea 65 0.036
752
GNG013 Gingivitis 64 0.036
753
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 59 0.036
754
c BRC051 Brachydactyly, Type B1 37 0.036
755
CNG008 Congenital Ichthyosiform Erythroderma 61 0.036
756
MVL001 Mevalonic Aciduria 57 0.036
757
INC021 Incontinentia Pigmenti 57 0.036
758
P SCK004 Seckel Syndrome 55 0.036
759
c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54 0.036
760
CLS005 Clouston Syndrome 54 0.036
761
MLT135 Multiple Sulfatase Deficiency 54 0.036
762
PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 53 0.036
763
c CNT075 Central Precocious Puberty 52 0.036
764
CLB010 Coloboma of Macula 52 0.036
765
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 50 0.036
766
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 0.036
767
NNN026 Noonan Syndrome with Multiple Lentigines 49 0.036
768
STR081 Stormorken Syndrome 49 0.036
769
c OST121 Osteogenesis Imperfecta, Type Iv 49 0.036
770
GLY014 Glycerol Kinase Deficiency 47 0.036
771
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47 0.036
772
MSS001 Masa Syndrome 46 0.036
773
ISL015 Isolated Growth Hormone Deficiency, Type Ib 44 0.036
774
RDD003 Riddle Syndrome 41 0.036
775
P KLN006 Koolen-De Vries Syndrome 38 0.036
776
CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 37 0.036
777
TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37 0.036
778
c OST110 Osteogenesis Imperfecta, Type Xv 34 0.036
779
MSC020 Mosaic Trisomy 8 33 0.036
780
c WLL036 Weill-Marchesani Syndrome 1 32 0.036
781
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30 0.036
782
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30 0.036
783
JHN004 Johnson Neuroectodermal Syndrome 30 0.036
784
IMM179 Immunodeficiency 31c 29 0.036
785
c CNG383 Congenital Disorder of Glycosylation, Type Iik 28 0.036
786
CRN049 Craniolenticulosutural Dysplasia 26 0.036
787
c MNT158 Mental Retardation, Autosomal Dominant 22 25 0.036
788
c WLL038 Weill-Marchesani Syndrome 3 22 0.036
789
c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22 0.036
790
MCR274 Microcephalic Primordial Dwarfism, Montreal Type 21 0.036
791
P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21 0.036
792
SPS192 Spastic Paraparesis and Deafness 20 0.036
793
SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19 0.036
794
CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 18 0.036
795
c TRC099 Trichothiodystrophy 2, Photosensitive 18 0.036
796
FRY005 Fryns Smeets Thiry Syndrome 13 0.036
797
BRT054 Brittle Bone Disorder 67 0.036
798
HTC003 Hutchinson-Gilford Progeria Syndrome 62 0.036
799
LRN003 Learning Disability 49 0.036
800
c DMN023 Diamond-Blackfan Anemia 1 48 0.036
801
CRN005 Craniofrontonasal Syndrome 46 0.036
802
c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43 0.036
803
c NNN012 Noonan Syndrome 5 39 0.036
804
c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38 0.036
805
ISC016 Ischiocoxopodopatellar Syndrome 30 0.036
806
WLD004 Wildervanck Syndrome 29 0.036
807
c NNN011 Noonan Syndrome 4 29 0.036
808
CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.036
809
c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22 0.036
810
KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20 0.036
811
P FTL001 Fetal Alcohol Syndrome 59 0.036
812
DGR001 Digeorge Syndrome 55 0.036
813
MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 18 0.036
814
DDN006 Duodenitis 46 0.035
815
DPH019 Diaphanospondylodysostosis 39 0.035
816
BND017 Bone Dysplasia, Lethal, Holmgren Type 21 0.035
817
BRC100 Brachydactyly, Combined B and E Types 19 0.035
818
P NPH012 Nephrotic Syndrome 60 0.035
819
P SZR006 Seizure Disorder 55 0.035
820
c RNG023 Ring Chromosome 7 50 0.035
821
CLB002 Clubfoot 46 0.035
822
FBL002 Fibular Hypoplasia and Complex Brachydactyly 40 0.035
823
ATN011 Autoinflammation with Infantile Enterocolitis 39 0.035
824
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.035
825
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.035
826
LTR009 Lateral Meningocele Syndrome 34 0.035
827
CHR266 Chromosome 8p23.1 Deletion 27 0.035
828
c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26 0.035
829
c CRN109 Cranioectodermal Dysplasia 2 25 0.035
830
CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23 0.035
831
VRH001 Verheij Syndrome 21 0.035
832
c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 21 0.035
833
CRN156 Craniofacioskeletal Syndrome 18 0.035
834
MCR186 Microtriplication 11q24.1 14 0.035
835
TRP009 Triple X Syndrome 39 0.034
836
P ALP008 Alopecia 56 0.034
837
P HYP024 Hypoparathyroidism 55 0.034
838
OPT054 Opitz-Kaveggia Syndrome 45 0.034
839
c MCP047 Mucopolysaccharidosis, Type Iva 44 0.034
840
c OST131 Osteopetrosis, Autosomal Dominant 2 43 0.034
841
c WRB002 Warburg Micro Syndrome 1 42 0.034
842
c EXS020 Exostoses, Multiple, Type Ii 35 0.034
843
CRB147 Cerebellofaciodental Syndrome 32 0.034
844
ATY016 Atypical Werner Syndrome 31 0.034
845
HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 29 0.034
846
SPN125 Spondyloenchondrodysplasia 26 0.034
847
c NNN020 Noonan Syndrome 7 23 0.034
848
c CFF006 Coffin-Siris Syndrome 5 21 0.034
849
CLB011 Coloboma of Macula with Type B Brachydactyly 21 0.034
850
c MRG014 Meier-Gorlin Syndrome 6 21 0.034
851
c DMN020 Diamond-Blackfan Anemia 8 20 0.034
852
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 20 0.034
853
SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18 0.034
854
RDL030 Radial-Renal Syndrome 17 0.034
855
c RBN010 Robinow-Like Syndrome 13 0.034
856
LYS003 Lysinuric Protein Intolerance 53 0.034
857
ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 18 0.034
858
RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 13 0.034
859
P HRS035 Hirschsprung Disease 1 64 0.033
860
RTN017 Retinal Detachment 59 0.033
861
CYS010 Cystinosis 55 0.033
862
P FBR025 Fibrochondrogenesis 50 0.033
863
P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42 0.033
864
GNT050 Genitourinary Tract Anomalies 41 0.033
865
ACR016 Acromesomelic Dysplasia 33 0.033
866
RFM001 Roifman Syndrome 31 0.033
867
CHR190 Chromosome 12p Duplication 27 0.033
868
HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 26 0.033
869
CHR248 Chromosome 4p Duplication 23 0.033
870
c MNT322 Mental Retardation, Autosomal Dominant 27 22 0.033
871
PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 20 0.033
872
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20 0.033
873
HYD021 Hydrocephalus Obesity Hypogonadism 16 0.033
874
HNT018 Hunter-Macdonald Syndrome 14 0.033
875
SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 9 0.033
876
P ATS364 Autism 70 0.033
877
SCL003 Social Phobia 50 0.033
878
MRS004 Marshall-Smith Syndrome 43 0.033
879
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 20 0.033
880
ALP046 Alport Syndrome, X-Linked 74 0.033
881
SCH036 Scheie Syndrome 68 0.033
882
WVR001 Weaver Syndrome 61 0.033
883
NTH001 Netherton Syndrome 60 0.033
884
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.033
885
P HYP035 Hypophosphatasia 58 0.033
886
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.033
887
GYN001 Gynecomastia 47 0.033
888
HYP748 Hypertelorism 46 0.033
889
EST005 Esotropia 43 0.033
890
c CNG208 Congenital Disorder of Glycosylation, Type Iic 42 0.033
891
GPS001 Gapo Syndrome 36 0.033
892
c NNN013 Noonan Syndrome 6 26 0.033
893
NVR001 Nievergelt Syndrome 25 0.033
894
INF021 Infant Gynecomastia 25 0.033
895
c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25 0.033
896
ACR034 Acrogeria, Gottron Type 23 0.033
897
c SCK029 Seckel Syndrome 7 22 0.033
898
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22 0.033
899
ACR107 Acrofacial Dysostosis, Palagonia Type 21 0.033
900
c FNC052 Fanconi Anemia, Complementation Group T 20 0.033
901
c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20 0.033
902
BRC106 Brachycephaly, Trichomegaly, and Developmental Delay 19 0.033
903
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.032
904
c CRP023 Carpenter Syndrome 1 57 0.032
905
ACR008 Acrocallosal Syndrome 56 0.032
906
c PSD066 Pseudohypoparathyroidism, Type Ib 52 0.032
907
NPH003 Nephrocalcinosis 49 0.032
908
P MRD002 Marden-Walker Syndrome 47 0.032
909
BRN003 Branchiooculofacial Syndrome 46 0.032
910
c ART061 Arthrogryposis, Distal, Type 2a 45 0.032
911
GNT031 Genitopatellar Syndrome 43 0.032
912
c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39 0.032
913
HYP064 Hypogonadotropism 38 0.032
914
MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38 0.032
915
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38 0.032
916
DSM002 Desmosterolosis 35 0.032
917
CTL005 Catel-Manzke Syndrome 35 0.032
918
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 32 0.032
919
FTL007 Fetal Hydantoin Syndrome 31 0.032
920
c ACR044 Acroosteolysis Dominant Type 29 0.032
921
CHR209 Chromosome 17p Duplication 29 0.032
922
c RNG022 Ring Chromosome 6 29 0.032
923
MLL011 Mullerian Aplasia and Hyperandrogenism 26 0.032
924
GRC002 Gracile Bone Dysplasia 25 0.032
925
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25 0.032
926
SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25 0.032
927
SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 25 0.032
928
c THR096 Three M Syndrome 3 24 0.032
929
CRN272 Craniometadiaphyseal Dysplasia 23 0.032
930
c CRN110 Cranioectodermal Dysplasia 3 23 0.032
931
c MRG010 Meier-Gorlin Syndrome 3 23 0.032
932
SHP004 Shprintzen Omphalocele Syndrome 23 0.032
933
HRS002 Hersh Podruch Weisskopk Syndrome 21 0.032
934
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21 0.032
935
CHR612 Chromosome 15q14 Deletion Syndrome 20 0.032
936
PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19 0.032
937
6Q1001 6q16 Deletion Syndrome 18 0.032
938
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 18 0.032
939
MCR351 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 18 0.032
940
P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 15 0.032
941
SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 13 0.032
942
c PTR015 Paternal Uniparental Disomy of Chromosome X 12 0.032
943
SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 10 0.032
944
BRC110 Brachydactyly, Type E, with Atrial Septal Defect, Type Ii 8 0.032
945
c HYP595 Hypertension, Essential 78 0.032
946
LVR012 Liver Cirrhosis 73 0.032
947
APN008 Apnea, Obstructive Sleep 67 0.032
948
P DYS154 Dystonia 61 0.032
949
GLC003 Glucose Intolerance 58 0.032
950
BMR001 Boomerang Dysplasia 39 0.032
951
PRP093 Pierpont Syndrome 30 0.032
952
CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 14 0.032
953
c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41 0.032
954
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36 0.032
955
LJN003 Lujan-Fryns Syndrome 33 0.032
956
LYS020 Loeys-Dietz Syndrome 5 23 0.032
957
RJB001 Rajab Syndrome 18 0.032
958
P STS008 Sotos Syndrome 1 56 0.032
959
KRN002 Kearns-Sayre Syndrome 59 0.031
960
c GLY060 Glycogen Storage Disease Ia 57 0.031
961
P LPR002 Leopard Syndrome 56 0.031
962
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 56 0.031
963
NLP001 Nail-Patella Syndrome 56 0.031
964
P DNT020 Dent Disease 1 55 0.031
965
P MSC022 Mosaic Variegated Aneuploidy Syndrome 47 0.031
966
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44 0.031
967
PKL001 Poikiloderma with Neutropenia 42 0.031
968
MTS001 Mutism 42 0.031
969
ARM004 Aromatase Excess Syndrome 41 0.031
970
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.031
971
c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 40 0.031
972
RPD002 Rapadilino Syndrome 39 0.031
973
P HYP599 Hypoparathyroidism, Familial Isolated 39 0.031
974
c GLY016 Glycogen Storage Disease Ib 36 0.031
975
P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 36 0.031
976
AMY086 Amyotrophy, Hereditary Neuralgic 35 0.031
977
c PLN017 Peeling Skin Syndrome 1 35 0.031
978
c CNG379 Congenital Disorder of Glycosylation, Type It 34 0.031
979
c OST163 Osteopetrosis, Autosomal Recessive 3 33 0.031
980
CLL036 Culler-Jones Syndrome 32 0.031
981
HYP596 Hypophosphatasia, Childhood 31 0.031
982
P OTF004 Otofaciocervical Syndrome 1 31 0.031
983
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 30 0.031
984
P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 29 0.031
985
SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 28 0.031
986
c SCK011 Seckel Syndrome 5 28 0.031
987
VSL002 Visual Epilepsy 27 0.031
988
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 27 0.031
989
c GLY097 Glycogen Storage Disease Ixb 27 0.031
990
CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 25 0.031
991
c CNG498 Congenital Disorder of Glycosylation, Type Iin 24 0.031
992
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24 0.031
993
SCH055 Schilbach-Rott Syndrome 23 0.031
994
c DMN017 Diamond-Blackfan Anemia 10 23 0.031
995
c DMN019 Diamond-Blackfan Anemia 4 23 0.031
996
c BRC048 Bruck Syndrome 2 22 0.031
997
MSL005 Mseleni Joint Disease 22 0.031
998
RJS001 Ruijs-Aalfs Syndrome 22 0.031
999
c MRG015 Meier-Gorlin Syndrome 7 22 0.031
1000
BNG086 Bangstad Syndrome 21 0.031
1001
c TRC100 Trichothiodystrophy 3, Photosensitive 21 0.031
1002
c DMN029 Diamond-Blackfan Anemia 11 21 0.031
1003
IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 21 0.031
1004
c DMN018 Diamond-Blackfan Anemia 5 21 0.031
1005
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21 0.031
1006
c MNT305 Mental Retardation, X-Linked 12 20 0.031
1007
c EPP009 Epiphyseal Dysplasia, Multiple, 6 20 0.031
1008
c MNT179 Mental Retardation, Autosomal Dominant 21 20 0.031
1009
ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19 0.031
1010
OCL070 Oculopalatocerebral Syndrome 19 0.031
1011
DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 19 0.031
1012
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18 0.031
1013
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18 0.031
1014
WDW001 Widow's Peak 17 0.031
1015
ALZ044 Alazami-Yuan Syndrome 17 0.031
1016
ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 17 0.031
1017
GRW027 Growth Restriction, Severe, with Distinctive Facies 15 0.031
1018
P LPS004 Lupus Erythematosus 69 0.031
1019
SLP005 Sleep Disorder 59 0.031
1020
P OCL013 Oculodentodigital Dysplasia 57 0.031
1021
P TRC086 Trichohepatoenteric Syndrome 1 54 0.031
1022
c FRN048 Frontometaphyseal Dysplasia 2 29 0.031
1023
CZC002 Czech Dysplasia 26 0.031
1024
DGT005 Digital Arthropathy-Brachydactyly, Familial 25 0.031
1025
MSC157 Muscular Dystrophy, Duchenne Type 74 0.031
1026
CRZ001 Crouzon Syndrome 71 0.031
1027
P HYD006 Hydrocephalus 68 0.031
1028
CRN036 Craniopharyngioma 63 0.031
1029
PRP001 Propionic Acidemia 63 0.031
1030
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52 0.031
1031
c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47 0.031
1032
CYS036 Cystinosis, Nephropathic 47 0.031
1033
c CRN139 Cornelia De Lange Syndrome 1 46 0.031
1034
CHR492 Chromosome 13q14 Deletion Syndrome 43 0.031
1035
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.031
1036
OGD001 Ogden Syndrome 35 0.031
1037
CHR377 Chromosome 10q26 Deletion Syndrome 33 0.031
1038
49X002 49,xxxxy Syndrome 33 0.031
1039
CHR391 Chromosome 15q24 Deletion Syndrome 32 0.031
1040
IVC001 Ivic Syndrome 29 0.031
1041
MCR183 Microcephaly-Capillary Malformation Syndrome 29 0.031
1042
FRN022 Frontofacionasal Dysplasia 29 0.031
1043
MSM016 Mesomelic Dysplasia, Kantaputra Type 28 0.031
1044
c FNC046 Fanconi Anemia, Complementation Group P 25 0.031
1045
BRK011 Brooks-Wisniewski-Brown Syndrome 25 0.031
1046
c FNC029 Fanconi Anemia, Complementation Group I 25 0.031
1047
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 25 0.031
1048
CHR212 Chromosome 18p Duplication 25 0.031
1049
c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24 0.031
1050
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24 0.031
1051
c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 24 0.031
1052
c MNT145 Mental Retardation, Autosomal Recessive 5 24 0.031
1053
CHR252 Chromosome 5p Duplication 23 0.031
1054
c CRN209 Cornelia De Lange Syndrome 5 23 0.031
1055
ZTT001 Zttk Syndrome 23 0.031
1056
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22 0.031
1057
c BRT039 Baraitser-Winter Syndrome 2 22 0.031
1058
c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 0.031
1059
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 21 0.031
1060
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21 0.031
1061
MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 20 0.031
1062
SPN113 Spinocerebellar Ataxia with Dysmorphism 19 0.031
1063
AST010 Astley-Kendall Syndrome 15 0.031
1064
BRT051 Baratela-Scott Syndrome 12 0.031
1065
MSM006 Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 10 0.031
1066
c SPN225 Spondyloarthropathy 1 71 0.030
1067
P ALG028 Alagille Syndrome 1 68 0.030
1068
PTN001 Patent Foramen Ovale 58 0.030
1069
P RTN016 Retinal Degeneration 56 0.030
1070
GRN013 Greenberg Dysplasia 36 0.030
1071
ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27 0.030
1072
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 20 0.030
1073
MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 18 0.030
1074
FML063 Familial Glucocorticoid Deficiency 35 0.029
1075
RCK004 Rickets 63 0.029
1076
P GCH001 Gaucher's Disease 62 0.029
1077
P BRD002 Bardet-Biedl Syndrome 61 0.029
1078
VGT001 Vogt-Koyanagi-Harada Disease 60 0.029
1079
P HYP040 Hypospadias 60 0.029
1080
P FCS002 Fucosidosis 59 0.029
1081
P OST009 Osteochondritis Dissecans 58 0.029
1082
ASP002 Aspartylglucosaminuria 57 0.029
1083
P SNR003 Senior-Loken Syndrome 1 54 0.029
1084
HYP068 Hyperostosis 52 0.029
1085
c ACT134 Acute Liver Failure 52 0.029
1086
P RNL007 Renal Tubular Acidosis 51 0.029
1087
c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 51 0.029
1088
c RBN021 Rubinstein-Taybi Syndrome 1 50 0.029
1089
P KRT007 Keratoconus 49 0.029
1090