Search results for short stature

1881 hits were found for short stature

# Family MCID Name MIFTS Score
1
P SHR029 Short Syndrome 58 4.646
2
c MNT109 Mental Retardation, X-Linked, Syndromic 15 35 3.898
3
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 3.465
4
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 23 3.445
5
P MRG008 Meier-Gorlin Syndrome 1 45 3.433
6
ECT073 Ectodermal Dysplasia/short Stature Syndrome 19 3.433
7
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 18 3.433
8
SHR042 Short Stature, Idiopathic Familial 28 3.204
9
KBG001 Kbg Syndrome 48 3.198
10
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 36 3.189
11
FLS001 Fils Syndrome 28 3.187
12
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 20 3.184
13
MYH012 Myhre Syndrome 38 3.180
14
SHR023 Short Stature Syndrome, Brussels Type 15 2.925
15
P MCR235 Microcephaly, Short Stature, and Impaired Glucose Metabolism 17 2.917
16
OST076 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 18 2.915
17
HYP648 Hypertension and Brachydactyly Syndrome 23 2.909
18
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 14 2.626
19
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 17 2.620
20
3MS007 3-M Syndrome 1 43 2.620
21
SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 26 2.617
22
PRG023 Progeroid Short Stature with Pigmented Nevi 16 2.615
23
WDM004 Wiedemann-Steiner Syndrome 38 2.613
24
PTT044 Pituitary Hormone Deficiency, Combined, 4 29 2.591
25
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 27 2.581
26
MCR072 Microdontia Hypodontia Short Stature 3 2.419
27
ALG003 Al Gazali Aziz Salem Syndrome 9 2.387
28
SBR011 Subaortic Stenosis--Short Stature Syndrome 15 2.290
29
DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 14 2.284
30
GMS002 Gms Syndrome 21 2.282
31
GRW026 Growth Hormone Insensitivity, Partial 24 2.274
32
CSN001 Cousin Syndrome 30 2.273
33
DNT045 Dental Anomalies and Short Stature 24 2.270
34
GRW023 Growth Hormone Deficiency, Isolated Partial 26 2.268
35
SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 10 2.268
36
CHP002 Chops Syndrome 35 2.266
37
SHR065 Short Stature with Microcephaly and Distinctive Facies 14 2.266
38
STL007 Steel Syndrome 31 2.263
39
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 15 2.263
40
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 34 2.263
41
DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 10 2.261
42
c TRC102 Trichothiodystrophy 1, Photosensitive 49 2.254
43
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 23 2.248
44
c MCR228 Microphthalmia, Syndromic 13 22 2.246
45
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 1.999
46
LRN004 Laron Dwarfism 58 1.919
47
AYM001 Ayme-Gripp Syndrome 41 1.883
48
P CFF001 Coffin-Siris Syndrome 51 1.878
49
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 15 1.872
50
EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 13 1.870
51
FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 11 1.870
52
CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 10 1.870
53
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 5 1.870
54
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 1.870
55
MTP004 Metaphyseal Acroscyphodysplasia 18 1.867
56
SHR084 Short Stature with Nonspecific Skeletal Abnormalities 12 1.864
57
LMB025 Lumbar Malsegmentation Short Stature 3 1.864
58
GRR002 Gurrieri Syndrome 20 1.862
59
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 9 1.857
60
MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 7 1.857
61
CLF019 Cleft Palate Short Stature Vertebral Anomalies 6 1.857
62
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4 1.857
63
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 1.857
64
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 1.854
65
c FML169 Familial Osteochondritis Dissecans 25 1.849
66
TRG019 Trigonocephaly with Short Stature and Developmental Delay 14 1.849
67
RMM001 Rommen Mueller Sybert Syndrome 12 1.849
68
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 9 1.849
69
c FNG009 Feingold Syndrome 2 22 1.846
70
JRG001 Jorgenson Lenz Syndrome 17 1.846
71
OST149 Osteolysis Syndrome, Recessive 14 1.843
72
PLY104 Polymicrogyria with Seizures 21 1.840
73
MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10 1.840
74
SYM004 Say Meyer Syndrome 6 1.840
75
CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 6 1.840
76
DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 5 1.840
77
XLN223 X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability 2 1.840
78
HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 13 1.819
79
BRK005 Berk-Tabatznik Syndrome 6 1.819
80
DWR002 Dauwerse-Peters Syndrome 3 1.819
81
CLD006 Cleidorhizomelic Syndrome 14 1.731
82
P THN009 Thanatophoric Dysplasia, Type I 63 1.646
83
c WLL026 Weill-Marchesani Syndrome 2, Dominant 28 1.590
84
SHR021 Short Stature Prognathism Short Femoral Necks 2 1.572
85
SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 13 1.570
86
PRG125 Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 5 1.563
87
PSY015 Psychosocial Short Stature 13 1.417
88
ACD009 Acid-Labile Subunit, Deficiency of 45 1.403
89
FLT006 Floating-Harbor Syndrome 42 1.385
90
DBW001 Dubowitz Syndrome 41 1.352
91
SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 10 1.346
92
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 14 1.344
93
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 15 1.341
94
PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 14 1.341
95
12Q002 12q14 Microdeletion Syndrome 23 1.339
96
INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 7 1.339
97
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6 1.339
98
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.339
99
EXT038 Extrasystoles Short Stature Hyperpigmentation Microcephaly 3 1.339
100
SYS006 Say Syndrome 31 1.339
101
c LRS002 Larsen-Like Syndrome 37 1.336
102
CRN266 Craniofacial Dyssynostosis with Short Stature 15 1.336
103
SHX002 Shox-Related Short Stature 8 1.336
104
SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 8 1.336
105
DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 8 1.336
106
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 27 1.334
107
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 1.333
108
GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 13 1.333
109
SHR027 Short Stature Wormian Bones Dextrocardia 8 1.333
110
SHR016 Short Stature Deafness Neutrophil Dysfunction 5 1.333
111
SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 5 1.333
112
IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 20 1.331
113
STR088 Stratton-Parker Syndrome 16 1.331
114
CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 14 1.331
115
XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 12 1.331
116
ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 11 1.331
117
GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 6 1.331
118
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 1.331
119
MNT025 Mental Retardation Short Stature Deafness Genital 3 1.331
120
NRR003 Narrow Oral Fissure Short Stature Cone Shaped Epiphyses 3 1.331
121
c OVR107 Ovarian Dysgenesis 4 22 1.328
122
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 17 1.328
123
SHR025 Short Stature Valvular Heart Disease 5 1.328
124
SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3 1.328
125
CRN083 Craniofacial Dyssynostosis 13 1.326
126
SHR014 Short Stature Contractures Hypotonia 2 1.325
127
OLV004 Oliver-Mcfarlane Syndrome 29 1.323
128
GRW003 Growth Hormone Insensitivity with Immunodeficiency 19 1.323
129
RDR002 Rodrigues Blindness 15 1.323
130
ARC009 Auriculoosteodysplasia 14 1.323
131
INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 10 1.323
132
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 5 1.323
133
SVR046 Severe Lateral Tibial Bowing with Short Stature 5 1.323
134
MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 3 1.323
135
ART036 Arthritis Short Stature Deafness 3 1.323
136
HYP217 Hypoparathyroidism Short Stature Mental Retardation 2 1.323
137
PRC022 Pericardium Absent Mental Retardation Short Stature 2 1.323
138
SYM010 Symphalangism Short Stature Accessory Testis 2 1.323
139
THM004 Thumb Absent Short Stature Immune Deficiency 2 1.323
140
THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2 1.323
141
ANK003 Ankle Defects Short Stature 2 1.323
142
ACR028 Acrodysplasia with Ossification Abnormalities, Short Stature and Fibular Hypoplasia 2 1.323
143
HYL003 Hyalinosis Systemic Short Stature 2 1.323
144
SYN029 Synostosis of Talus and Calcaneus Short Stature 2 1.323
145
PLT011 Pilotto Syndrome 17 1.319
146
SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 9 1.319
147
SHR018 Short Stature Mental Retardation Eye Anomalies 4 1.319
148
SHR013 Short Stature Abnormal Skin Pigmentation Mental Retardation 3 1.319
149
SHR019 Short Stature Microcephaly Seizures Deafness 2 1.319
150
SHR024 Short Stature Talipes Natal Teeth 2 1.319
151
SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2 1.319
152
SHR017 Short Stature Dysmorphic Face Pelvic Scapula Dysplasia 2 1.319
153
SHR020 Short Stature Monodactylous Ectrodactyly Cleft Palate 2 1.319
154
SHR022 Short Stature Robin Sequence Cleft Mandible Hand Anomalies Clubfoot 2 1.319
155
CRN070 Corneodermatoosseous Syndrome 16 1.316
156
CNS012 Cono-Spondylar Dysplasia 11 1.316
157
HRY005 Hairy Elbows 25 1.313
158
c WLL011 Weill-Marchesani-Like Syndrome 25 1.313
159
KWR001 Kowarski Syndrome 20 1.313
160
c MNT166 Mental Retardation, Autosomal Recessive 39 19 1.313
161
PFF010 Pfeiffer-Palm-Teller Syndrome 12 1.313
162
DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6 1.313
163
SHR099 Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome 5 1.313
164
INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3 1.313
165
MSM004 Mesomelia-Synostoses Syndrome 22 1.309
166
AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 32 1.301
167
c BMN004 Biemond Syndrome Ii 14 1.301
168
HND005 Hand and Foot Deformity with Flat Facies 13 1.301
169
XLN128 X-Linked Intellectual Disability, Abidi Type 11 1.301
170
DVR003 Devriendt Syndrome 8 1.301
171
CHD003 Chudley Rozdilsky Syndrome 7 1.301
172
TNK001 Tonoki Syndrome 5 1.301
173
ZRS001 Zori Stalker Williams Syndrome 5 1.301
174
HNT008 Hunter Rudd Hoffmann Syndrome 4 1.301
175
THY064 Thyroid Hormone Metabolism, Abnormal 25 1.286
176
c SPS042 Spastic Paraplegia 9 20 1.286
177
DRM015 Dermoids of Cornea 16 1.286
178
HNT009 Hunter-Mcalpine Syndrome 11 1.286
179
RNN006 Reunion Island Larsen Syndrome 11 1.286
180
c FCS008 Fucosidosis Type 1 10 1.286
181
VLJ001 Viljoen Kallis Voges Syndrome 8 1.286
182
THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 7 1.286
183
LHX002 Lhx4-Related Combined Pituitary Hormone Deficiency 6 1.286
184
SYF001 Say-Field-Coldwell Syndrome 6 1.286
185
SCH020 Schaap Taylor Baraitser Syndrome 5 1.286
186
PFF002 Pfeiffer Kapferer Syndrome 5 1.286
187
ZRR001 Zerres Rietschel Majewski Syndrome 5 1.286
188
BDH001 Boudhina Yedes Khiari Syndrome 5 1.286
189
CNT052 Cantalamessa Baldini Ambrosi Syndrome 4 1.286
190
PFF003 Pfeiffer Mayer Syndrome 4 1.286
191
MLN017 Milner Khallouf Gibson Syndrome 4 1.286
192
ALG004 Al Gazali Khidr Prem Chandran Syndrome 4 1.286
193
MGR005 Megarbane Syndrome 4 1.286
194
THD001 Theodor Hertz Goodman Syndrome 4 1.286
195
DRC002 D Ercole Syndrome 3 1.286
196
CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3 1.286
197
FNG007 Feingold Trainer Syndrome 3 1.286
198
SLV009 Slavotinek Pike Mills Hurst Syndrome 3 1.286
199
GRW007 Growth Hormone Deficiency 50 0.156
200
P MCR010 Microcephaly 58 0.143
201
DWR001 Dwarfism 47 0.140
202
INS024 Insulin-Like Growth Factor I 75 0.133
203
P BRC006 Brachydactyly 54 0.119
204
P OBS005 Obesity 92 0.118
205
ACR002 Acrocapitofemoral Dysplasia 33 0.112
206
P INT063 Intellectual Disability 49 0.103
207
BND014 Bone Development Disease 40 0.097
208
P TRN020 Turner Syndrome 65 0.096
209
P PLY006 Polydactyly 56 0.093
210
P HRT032 Heart Disease 75 0.085
211
LRW001 Leri-Weill Dyschondrosteosis 43 0.085
212
P HPT021 Hepatitis 69 0.084
213
ISL003 Isolated Growth Hormone Deficiency 52 0.081
214
HYP042 Hypochondroplasia 57 0.080
215
RTN023 Retinitis 50 0.079
216
NTR005 Nutritional Deficiency Disease 36 0.077
217
HYP080 Hypogonadism 53 0.076
218
ELL001 Ellis-Van Creveld Syndrome 58 0.075
219
KDS001 Kid Syndrome 53 0.072
220
ACH004 Achondroplasia 66 0.072
221
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.071
222
CSY001 C Syndrome 50 0.070
223
CHL071 Child Syndrome 58 0.070
224
P ART022 Arthritis 75 0.070
225
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 50 0.069
226
P OST012 Osteoarthritis 83 0.068
227
PSD012 Pseudoachondroplasia 51 0.067
228
P GND004 Gonadal Dysgenesis 51 0.067
229
P KDN018 Kidney Disease 66 0.067
230
P CLC005 Celiac Disease 68 0.066
231
CRB009 Cerebritis 39 0.065
232
ARS001 Aarskog-Scott Syndrome 52 0.064
233
P THY032 Thyroiditis 54 0.064
234
ALR002 Al-Raqad Syndrome 36 0.064
235
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.063
236
SKL014 Skeletal Dysplasia 46 0.063
237
SKL017 Skeletal Dysplasias 45 0.063
238
ACR043 Acromicric Dysplasia 29 0.063
239
BNS002 Bone Structure Disease 37 0.063
240
c BRC082 Brachydactyly, Type E 42 0.063
241
P NNN008 Noonan Syndrome 1 67 0.062
242
SDC002 Sed Congenita 53 0.062
243
P CTR002 Cataract 58 0.061
244
c PSD067 Pseudohypoparathyroidism Ia 52 0.060
245
SPN154 Spondyloperipheral Dysplasia 31 0.060
246
P SCL018 Scoliosis 55 0.060
247
c PSD058 Pseudohypoparathyroidism Ic 28 0.060
248
LNG040 Langer Mesomelic Dysplasia 33 0.059
249
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.058
250
P PRD006 Prader-Willi Syndrome 62 0.058
251
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.058
252
SYN005 Synostosis 46 0.058
253
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 39 0.058
254
c EPP017 Epiphyseal Dysplasia, Multiple, 1 31 0.057
255
c RBN009 Robinow Syndrome, Autosomal Recessive 37 0.057
256
P ATX004 Ataxia 53 0.057
257
P AST005 Asthma 82 0.057
258
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 42 0.056
259
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.056
260
ASP005 Asphyxiating Thoracic Dystrophy 52 0.056
261
DYG001 Dyggve-Melchior-Clausen Disease 24 0.056
262
KNS001 Kniest Dysplasia 53 0.056
263
PTR006 Peters Anomaly 65 0.056
264
P LRS001 Larsen Syndrome 51 0.055
265
CHN057 Chondrodysplasia, Grebe Type 34 0.055
266
P CRV039 Cervicitis 45 0.055
267
RNP001 Renpenning Syndrome 47 0.055
268
c BRN108 Branchiootic Syndrome 1 34 0.055
269
SCH016 Schimke Immunoosseous Dysplasia 47 0.054
270
c CNG413 Congenital Short Bowel Syndrome 36 0.054
271
SKN016 Skin Disease 66 0.054
272
P PTS002 Ptosis 51 0.054
273
P CLD001 Cleidocranial Dysplasia 62 0.054
274
c DSB006 Desbuquois Dysplasia 1 50 0.054
275
P LVR013 Liver Disease 75 0.054
276
SMD002 Smed Strudwick Type 39 0.053
277
ACR041 Acromelic Frontonasal Dysostosis 45 0.053
278
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 38 0.053
279
SXD001 Sex Differentiation Disease 38 0.052
280
c BRC078 Brachydactyly, Type A1 45 0.052
281
c ACH033 Achondrogenesis, Type Ia 43 0.052
282
DST005 Diastrophic Dysplasia 53 0.052
283
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.052
284
c ACH035 Achondrogenesis Ib 43 0.052
285
WLL001 Williams-Beuren Syndrome 60 0.052
286
CRT002 Cartilage-Hair Hypoplasia 57 0.052
287
SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 27 0.052
288
THR024 Thrombosis 57 0.052
289
P MSC005 Muscular Dystrophy 65 0.052
290
P DRR001 Diarrhea 60 0.052
291
P HYP060 Hyperinsulinism 58 0.052
292
CST001 Costello Syndrome 68 0.051
293
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 44 0.051
294
P MLT007 Multiple Epiphyseal Dysplasia 50 0.051
295
TBR010 Tuberculosis 70 0.051
296
BRT030 Birth Defects 43 0.051
297
ACR013 Acrodysostosis 50 0.051
298
CHN016 Cohen Syndrome 54 0.051
299
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.051
300
SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 24 0.051
301
HYP056 Hypoglycemia 61 0.051
302
CLF001 Cleft Lip 50 0.051
303
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.051
304
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 0.051
305
P RBN001 Rubinstein-Taybi Syndrome 64 0.050
306
P RBN002 Robinow Syndrome 49 0.050
307
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 27 0.050
308
P SLV001 Silver-Russell Syndrome 54 0.050
309
P KBK002 Kabuki Syndrome 1 49 0.050
310
P WLL002 Weill-Marchesani Syndrome 47 0.050
311
NCL006 Nicolaides-Baraitser Syndrome 37 0.050
312
CDS002 Codas Syndrome 37 0.050
313
P SYN001 Syndactyly 53 0.049
314
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 0.049
315
OPS002 Opsismodysplasia 34 0.049
316
c CMP072 Camptodactyly Syndrome, Guadalajara, Type I 17 0.049
317
c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 15 0.049
318
SPS057 Spasticity 42 0.049
319
P HLL001 Hallermann-Streiff Syndrome 53 0.049
320
PYC001 Pycnodysostosis 48 0.049
321
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 0.049
322
BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 25 0.049
323
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 34 0.049
324
LPD008 Lipid Metabolism Disorder 58 0.049
325
HND003 Hand-Foot-Uterus Syndrome 50 0.049
326
CMP005 Campomelic Dysplasia 55 0.049
327
c SPN330 Spondylocostal Dysostosis 5 38 0.048
328
LRN003 Learning Disability 49 0.048
329
P CCK001 Cockayne Syndrome 61 0.048
330
BLM001 Bloom Syndrome 63 0.048
331
CFF002 Coffin-Lowry Syndrome 55 0.048
332
SMT008 Smith-Magenis Syndrome 52 0.048
333
MRS002 Marshall Syndrome 49 0.048
334
c BRC045 Brachyolmia Type 3 34 0.048
335
MTT002 Metatropic Dysplasia 30 0.048
336
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 18 0.048
337
PLC008 Placenta Disease 33 0.048
338
P NRP001 Neuropathy 59 0.048
339
SHW002 Shwachman-Diamond Syndrome 61 0.047
340
P STC001 Stickler Syndrome 55 0.047
341
SCH071 Schaaf-Yang Syndrome 26 0.047
342
WLF002 Wolf-Hirschhorn Syndrome 49 0.047
343
P ACH011 Achondrogenesis 39 0.047
344
c THN010 Thanatophoric Dysplasia, Type Ii 49 0.047
345
KYP002 Kyphomelic Dysplasia 23 0.047
346
c MCP024 Mucopolysaccharidosis Type Vi 60 0.047
347
P DSB002 Desbuquois Dysplasia 43 0.047
348
P HYP265 Hypotonia 38 0.047
349
P SCH015 Schizophrenia 77 0.046
350
P MYP004 Myopathy 67 0.046
351
NRN002 Neuronitis 41 0.046
352
P CRN015 Cornelia De Lange Syndrome 62 0.046
353
c BRC081 Brachydactyly, Type C 37 0.046
354
P FNC043 Fanconi Anemia, Complementation Group E 55 0.046
355
P SLD010 Sialidosis, Type I 54 0.046
356
BLL001 Baller-Gerold Syndrome 51 0.046
357
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 31 0.046
358
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 26 0.046
359
BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 22 0.046
360
CRD002 Cri-Du-Chat Syndrome 48 0.045
361
SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 12 0.045
362
P DYS007 Dyskeratosis Congenita 63 0.045
363
P RHM011 Rheumatoid Arthritis 89 0.045
364
P CRD011 Cardiomyopathy 68 0.045
365
HYP609 Hypophosphatemic Rickets, X-Linked Dominant 52 0.045
366
c MCP009 Mucopolysaccharidosis Ii 62 0.045
367
P HYP083 Hypopituitarism 54 0.045
368
P ICH004 Ichthyosis 52 0.045
369
c ART120 Arthrogryposis, Distal, Type 3 42 0.045
370
ABR009 Abruzzo-Erickson Syndrome 38 0.045
371
WYR002 Weyers Acrofacial Dysostosis 36 0.045
372
P HYP086 Hypothyroidism 64 0.044
373
SCH030 Schneckenbecken Dysplasia 32 0.044
374
FMR018 Femoral-Facial Syndrome 27 0.044
375
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 14 0.044
376
ANR040 Aneurysm 57 0.044
377
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.044
378
CLF004 Cleft Lip/palate 46 0.044
379
P CRN178 Coronary Heart Disease 6 21 0.044
380
WRN001 Werner Syndrome 67 0.044
381
P RTH001 Rothmund-Thomson Syndrome 55 0.044
382
P SPN061 Spondyloepiphyseal Dysplasia Tarda 41 0.044
383
SPN180 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 24 0.044
384
MCR308 Microcephalic Primordial Dwarfism, Toriello Type 16 0.044
385
P DMN001 Diamond-Blackfan Anemia 69 0.043
386
c GLY019 Glycogen Storage Disease Iiia 50 0.043
387
PRP016 Paraplegia 49 0.043
388
c TRC092 Trichorhinophalangeal Syndrome, Type I 46 0.043
389
SCH068 Schwartz-Jampel Syndrome, Type 1 32 0.043
390
P ART023 Arthropathy 64 0.043
391
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 34 0.043
392
P NRB001 Neuroblastoma 70 0.043
393
P CRD013 Cardiofaciocutaneous Syndrome 63 0.043
394
SPN331 Spondyloocular Syndrome 27 0.043
395
ARM006 Armfield X-Linked Mental Retardation Syndrome 17 0.043
396
P FNG005 Feingold Syndrome 42 0.043
397
THR033 Thoracomelic Dysplasia 15 0.043
398
TTH006 Tooth Disease 52 0.043
399
MSC004 Muscle Tissue Disease 34 0.043
400
P EPL164 Epilepsy 66 0.042
401
P ANR007 Anorexia Nervosa 61 0.042
402
P PRC019 Precocious Puberty 51 0.042
403
P SJG002 Sjogren-Larsson Syndrome 50 0.042
404
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.042
405
NRF008 Neurofibromatosis-Noonan Syndrome 44 0.042
406
c MCL016 Mucolipidosis Iii Gamma 38 0.042
407
MCR103 Microtia 37 0.042
408
c EPP015 Epiphyseal Dysplasia, Multiple, 3 23 0.042
409
c EPP012 Epiphyseal Dysplasia, Multiple, 2 23 0.042
410
P CRN108 Cranioectodermal Dysplasia 1 48 0.042
411
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 41 0.042
412
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 38 0.042
413
P RTN008 Retinitis Pigmentosa 80 0.042
414
c MCP004 Mucopolysaccharidosis Iv 60 0.042
415
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 34 0.042
416
TRS002 Tarsal-Carpal Coalition Syndrome 34 0.042
417
STV004 Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 32 0.042
418
PTT045 Pituitary Hormone Deficiency, Combined, 1 30 0.042
419
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 26 0.042
420
CHR543 Chromosome 2q37 Deletion Syndrome 28 0.042
421
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 21 0.042
422
ACR101 Acrocraniofacial Dysostosis 18 0.042
423
DRM006 Dermatitis 66 0.042
424
OST015 Osteochondrodysplasia 52 0.042
425
P SPS003 Spastic Diplegia 52 0.041
426
c CRN175 Coronary Heart Disease 4 19 0.041
427
P LPD010 Lipodystrophy 55 0.041
428
OST044 Osteoglophonic Dysplasia 47 0.041
429
MRT007 Martsolf Syndrome 38 0.041
430
KTL001 Keutel Syndrome 37 0.041
431
c GLP003 Geleophysic Dysplasia 1 25 0.041
432
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 22 0.041
433
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 17 0.041
434
NSD003 Nasodigitoacoustic Syndrome 17 0.041
435
P OVR049 Ovarian Disease 56 0.041
436
SKN023 Skin Tag 44 0.041
437
CHN054 Chondrodysplasia, Blomstrand Type 40 0.041
438
P ESC003 Escobar Syndrome 59 0.041
439
TRY002 Troyer Syndrome 44 0.041
440
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 43 0.041
441
MLB001 Mulibrey Nanism 43 0.041
442
PTT041 Pituitary Stalk Interruption Syndrome 42 0.041
443
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.041
444
GRW016 Growth Hormone Deficiency, Isolated, Type Ib 42 0.041
445
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 39 0.041
446
c KNN007 Kenny-Caffey Syndrome, Type 2 25 0.041
447
CXR001 Coxoauricular Syndrome 12 0.041
448
c CRN214 Coronary Heart Disease 5 22 0.041
449
c BRT038 Baraitser-Winter Syndrome 1 35 0.041
450
SPN060 Spondylocarpotarsal Synostosis Syndrome 34 0.041
451
MTP028 Metaphyseal Dysplasia, Spahr Type 31 0.041
452
PTT047 Pituitary Hormone Deficiency, Combined, 3 31 0.041
453
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 30 0.041
454
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.041
455
SPN349 Spondylometaphyseal Dysplasia, Type A4 14 0.041
456
SXL003 Sexual Disorder 42 0.040
457
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 28 0.040
458
RHM027 Rheumatic Disease 58 0.040
459
SMT004 Smith-Lemli-Opitz Syndrome 66 0.040
460
P SPN250 Spondyloepimetaphyseal Dysplasia 47 0.040
461
MCR165 Microphthalmia with Limb Anomalies 41 0.040
462
ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 28 0.040
463
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 21 0.040
464
FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 14 0.040
465
c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 14 0.040
466
P NJM001 Nijmegen Breakage Syndrome 67 0.039
467
DBT088 Diabetes Insipidus, Nephrogenic 56 0.039
468
ECT006 Ectodermal Dysplasia 52 0.039
469
JHN001 Johanson-Blizzard Syndrome 46 0.039
470
WLS004 Wilson-Turner Syndrome 38 0.039
471
c NNN010 Noonan Syndrome 3 35 0.039
472
HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 29 0.039
473
STY001 Satoyoshi Syndrome 26 0.039
474
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 24 0.039
475
ALZ030 Alazami Syndrome 22 0.039
476
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 17 0.039
477
DYS180 Dyschondrosteosis and Nephritis 13 0.039
478
P HYP613 Hypophosphatemic Rickets 57 0.039
479
PCK002 Pick Disease 68 0.039
480
P CLL015 Collagen Disease 50 0.039
481
SYN036 Syncope 47 0.039
482
SLP005 Sleep Disorder 53 0.039
483
PLL008 Pallister-Killian Syndrome 31 0.039
484
PRD011 Proud Syndrome 42 0.039
485
CHR211 Chromosome 18p Deletion Syndrome 38 0.039
486
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 38 0.039
487
CHR382 Chromosome 18q Deletion Syndrome 28 0.039
488
FRS007 Frias Syndrome 25 0.039
489
ACR066 Acrodysostosis 1, with or Without Hormone Resistance 23 0.039
490
MCD002 Mcdonough Syndrome 23 0.039
491
GRL004 Gorlin-Chaudhry-Moss Syndrome 23 0.039
492
ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 20 0.039
493
VLF001 Velofacioskeletal Syndrome 13 0.039
494
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.038
495
DWN001 Down Syndrome 66 0.038
496
FCL009 Focal Dermal Hypoplasia 54 0.038
497
c CRN177 Coronary Heart Disease 7 20 0.038
498
P RTT002 Rett Syndrome 77 0.038
499
P PRM019 Premature Ovarian Failure 64 0.038
500
CRY002 Cryptorchidism 60 0.038
501
BSC001 Buschke-Ollendorff Syndrome 50 0.038
502
CRB045 Cerebellar Hypoplasia 48 0.038
503
P MWT001 Mowat-Wilson Syndrome 46 0.038
504
NTV001 Native American Myopathy 40 0.038
505
BLP004 Blepharophimosis 38 0.038
506
TRS007 Trismus-Pseudocamptodactyly Syndrome 32 0.038
507
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 29 0.038
508
P BRC003 Brachyolmia 25 0.038
509
MDL024 Madelung Deformity 20 0.038
510
CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 12 0.038
511
HPT074 Hepatic Adenoma, Somatic 50 0.038
512
BLD053 Blood Platelet Disease 46 0.038
513
P OST005 Osteogenesis Imperfecta 69 0.037
514
P VLC001 Velocardiofacial Syndrome 62 0.037
515
SNG010 Single Median Maxillary Central Incisor 52 0.037
516
PSD014 Pseudopseudohypoparathyroidism 52 0.037
517
P HYP087 Hypotrichosis 46 0.037
518
BRJ001 Borjeson-Forssman-Lehmann Syndrome 43 0.037
519
c MCP012 Mucopolysaccharidosis Ih 41 0.037
520
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.037
521
ACR016 Acromesomelic Dysplasia 31 0.037
522
WDS002 Woods Syndrome 27 0.037
523
FNT003 Fountain Syndrome 26 0.037
524
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 26 0.037
525
c ACR103 Acrofrontofacionasal Dysostosis 1 19 0.037
526
AND005 Androgen Insensitivity Syndrome, Mild 16 0.037
527
DST059 Distal Trisomy 17q 16 0.037
528
ULN024 Ulnar/fibular Ray Defect and Brachydactyly 14 0.037
529
P MDL005 Medulloblastoma 77 0.037
530
P PFF001 Pfeiffer Syndrome 73 0.037
531
ACR007 Acromegaly 66 0.037
532
P ATP001 Atopic Dermatitis 62 0.037
533
P SZR006 Seizure Disorder 56 0.037
534
JCB001 Jacobsen Syndrome 48 0.037
535
GND003 Gonadal Disease 39 0.037
536
SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 25 0.037
537
EKN001 Eiken Syndrome 22 0.037
538
ACR079 Acrodysostosis with Multiple Hormone Resistance 19 0.037
539
CHR588 Chromosome 8q22.1 Duplication Syndrome 16 0.037
540
2Q3005 2q31.1 Microdeletion Syndrome 15 0.037
541
VND001 Vein Disease 47 0.037
542
c OTP006 Otopalatodigital Syndrome, Type I 36 0.037
543
HNM002 Hinman Syndrome 25 0.037
544
LWS003 Lowe Syndrome 61 0.036
545
MCR013 Microphthalmia 60 0.036
546
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.036
547
P SCK004 Seckel Syndrome 54 0.036
548
STF002 Stiff Skin Syndrome 53 0.036
549
ALS001 Alstrom Syndrome 53 0.036
550
GLL032 Galloway-Mowat Syndrome 51 0.036
551
c CNT075 Central Precocious Puberty 49 0.036
552
NNN026 Noonan Syndrome with Multiple Lentigines 48 0.036
553
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 47 0.036
554
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 46 0.036
555
RDL002 Radioulnar Synostosis 44 0.036
556
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 0.036
557
MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 41 0.036
558
LRN001 Laurence-Moon Syndrome 38 0.036
559
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 33 0.036
560
c MCP015 Mucopolysaccharidosis Type Ix 33 0.036
561
WTS001 Watson Syndrome 28 0.036
562
MSC020 Mosaic Trisomy 8 28 0.036
563
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 26 0.036
564
WSM003 Weismann-Netter Syndrome 22 0.036
565
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 19 0.036
566
MCR274 Microcephalic Primordial Dwarfism, Montreal Type 17 0.036
567
ATK002 Atkin-Flaitz Syndrome 15 0.036
568
FRY005 Fryns Smeets Thiry Syndrome 9 0.036
569
c FNC027 Fanconi Anemia, Complementation Group a 71 0.036
570
HTC002 Hutchinson-Gilford Progeria 57 0.036
571
P MYP006 Myopia 56 0.036
572
c ORF040 Orofaciodigital Syndrome Viii 48 0.036
573
PTT009 Pituitary Gland Disease 47 0.036
574
ADR038 Adermatoglyphia 46 0.036
575
P PLG001 Pelger-Huet Anomaly 45 0.036
576
3PS001 3p- Syndrome 38 0.036
577
c NNN025 Noonan Syndrome 10 26 0.036
578
c NNN024 Noonan Syndrome 9 26 0.036
579
DYS045 Dysosteosclerosis 22 0.036
580
c BRC060 Brachydactyly, Type E2 21 0.036
581
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 19 0.036
582
c BRC053 Brachyolmia Type 2 18 0.036
583
GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17 0.036
584
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 17 0.036
585
BRN125 Branchiogenic-Deafness Syndrome 15 0.036
586
OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 15 0.036
587
P MLT019 Multiple Myeloma 83 0.036
588
OSB001 Osebold-Remondini Syndrome 17 0.036
589
P MNN013 Meningitis 67 0.036
590
MVM001 Movement Disease 49 0.036
591
c OTP007 Otopalatodigital Syndrome, Type Ii 36 0.036
592
TRP009 Triple X Syndrome 40 0.035
593
CNN005 Connective Tissue Disease 62 0.035
594
GNG013 Gingivitis 61 0.035
595
P SLP006 Sleep Apnea 61 0.035
596
IMP002 Imperforate Anus 52 0.035
597
P MSC003 Muscular Atrophy 50 0.035
598
PHY002 Physical Disorder 43 0.035
599
CRH001 Crohn's Disease 75 0.035
600
P THR014 Thrombocytopenia 64 0.035
601
SNS001 Sensorineural Hearing Loss 57 0.035
602
P FTL001 Fetal Alcohol Syndrome 53 0.035
603
P CLB002 Clubfoot 43 0.035
604
CHR222 Chromosome 1p36 Deletion Syndrome 41 0.035
605
c RBN018 Robinow Syndrome, Autosomal Dominant 1 40 0.035
606
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 24 0.035
607
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 22 0.035
608
c BRC099 Brachydactyly, Type A4 18 0.035
609
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 17 0.035
610
ACR096 Acromesomelic Dysplasia, Demirhan Type 17 0.035
611
SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 15 0.035
612
MCR186 Microtriplication 11q24.1 10 0.035
613
P ATX030 Ataxia-Telangiectasia 77 0.035
614
P THL005 Thalassemia 64 0.035
615
c OST122 Osteogenesis Imperfecta, Type Iii 59 0.035
616
ALP008 Alopecia 57 0.035
617
NTH001 Netherton Syndrome 54 0.035
618
P HYP024 Hypoparathyroidism 53 0.035
619
c KNN009 Kenny-Caffey Syndrome, Type 1 50 0.035
620
ACR003 Acrodermatitis Enteropathica 49 0.035
621
P OST009 Osteochondritis Dissecans 49 0.035
622
ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45 0.035
623
CTY001 Cat Eye Syndrome 43 0.035
624
c OST131 Osteopetrosis, Autosomal Dominant 2 41 0.035
625
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41 0.035
626
WLC001 Wolcott-Rallison Syndrome 40 0.035
627
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 40 0.035
628
c ART117 Arthrogryposis, Distal, Type 2b 38 0.035
629
P MRN003 Marinesco-Sjogren Syndrome 33 0.035
630
c NNN021 Noonan Syndrome 8 29 0.035
631
GLD002 Goldberg-Shprintzen Megacolon Syndrome 27 0.035
632
CHR501 Chromosome 17q12 Deletion Syndrome 26 0.035
633
WLD004 Wildervanck Syndrome 25 0.035
634
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.035
635
SPN348 Spondylometaphyseal Dysplasia, Axial 18 0.035
636
MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 17 0.035
637
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 16 0.035
638
LYM123 Lymphedema-Hypoparathyroidism Syndrome 16 0.035
639
CLB011 Coloboma of Macula with Type B Brachydactyly 16 0.035
640
CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 15 0.035
641
SND006 Sonoda Syndrome 15 0.035
642
CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 14 0.035
643
CRN224 Craniofaciofrontodigital Syndrome 14 0.035
644
CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 13 0.035
645
APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 13 0.035
646
VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 13 0.035
647
c RBN010 Robinow-Like Syndrome 11 0.035
648
MRF001 Marfan Syndrome 73 0.035
649
c BRC079 Brachydactyly, Type A2 45 0.034
650
P CRN037 Craniosynostosis 66 0.034
651
HJD001 Hajdu-Cheney Syndrome 59 0.034
652
AMN001 Amenorrhea 50 0.034
653
MTB004 Metabolic Acidosis 48 0.034
654
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 44 0.034
655
HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 23 0.034
656
GRM003 German Syndrome 22 0.034
657
CHR190 Chromosome 12p Duplication 18 0.034
658
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 17 0.034
659
CHR248 Chromosome 4p Duplication 17 0.034
660
SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 7 0.034
661
c EHL057 Ehlers-Danlos Syndrome, Type Iv 60 0.033
662
LGG001 Legg-Calve-Perthes Disease 57 0.033
663
P HYP035 Hypophosphatasia 57 0.033
664
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 51 0.033
665
c CNG411 Congenital Disorder of Glycosylation, Type in 49 0.033
666
c MCP038 Mucopolysaccharidosis Iva 47 0.033
667
BWN001 Bowen-Conradi Syndrome 44 0.033
668
EST005 Esotropia 41 0.033
669
RPD002 Rapadilino Syndrome 39 0.033
670
PTC002 Potocki-Lupski Syndrome 33 0.033
671
PRM056 Primrose Syndrome 32 0.033
672
CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 27 0.033
673
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.033
674
ACR034 Acrogeria, Gottron Type 25 0.033
675
GMZ002 Gomez-Lopez-Hernandez Syndrome 23 0.033
676
ULN005 Ulna and Fibula, Hypoplasia of 17 0.033
677
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 16 0.033
678
MSM019 Mesomelic Dysplasia, Savarirayan Type 16 0.033
679
P LNG028 Long Qt Syndrome 64 0.033
680
DFC004 Deficiency Anemia 64 0.033
681
P PSR002 Psoriasis 61 0.033
682
ARM001 Aromatase Deficiency 58 0.033
683
P MST009 Mastocytosis 56 0.032
684
FRB001 Farber Lipogranulomatosis 53 0.032
685
CYS010 Cystinosis 53 0.032
686
P FBR025 Fibrochondrogenesis 48 0.032
687
P RTS001 Ritscher-Schinzel Syndrome 42 0.032
688
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 37 0.032
689
P CRB154 Cerebrocostomandibular Syndrome 36 0.032
690
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 35 0.032
691
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 32 0.032
692
FTL007 Fetal Hydantoin Syndrome 32 0.032
693
MLL011 Mullerian Aplasia and Hyperandrogenism 25 0.032
694
c GLP004 Geleophysic Dysplasia 2 25 0.032
695
c RNG022 Ring Chromosome 6 23 0.032
696
ACR099 Acrofacial Dysostosis, Catania Type 21 0.032
697
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 20 0.032
698
CHN043 Chondrodysplasia with Joint Dislocations, Grapp Type 20 0.032
699
CHR266 Chromosome 8p23.1 Deletion 19 0.032
700
DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 17 0.032
701
RHZ008 Rhizomelic Syndrome 16 0.032
702
HRS002 Hersh Podruch Weisskopk Syndrome 15 0.032
703
6Q1001 6q16 Deletion Syndrome 14 0.032
704
HYD021 Hydrocephalus Obesity Hypogonadism 11 0.032
705
P PTR015 Paternal Uniparental Disomy of Chromosome X 10 0.032
706
c HYP595 Hypertension, Essential 69 0.032
707
OBS061 Obstructive Sleep Apnea 66 0.032
708
PLM033 Pulmonary Embolism 60 0.032
709
CHL068 Cholestasis 59 0.032
710
DDN006 Duodenitis 42 0.032
711
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.032
712
RVL002 Ruvalcaba Syndrome 39 0.032
713
DPH019 Diaphanospondylodysostosis 34 0.032
714
c DGT005 Digital Arthropathy-Brachydactyly, Familial 33 0.032
715
c OMD001 Omodysplasia 1 25 0.032
716
SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 18 0.032
717
c MCP037 Mucopolysaccharidosis is 64 0.032
718
P STH001 Saethre-Chotzen Syndrome 60 0.032
719
INC021 Incontinentia Pigmenti 59 0.032
720
STR026 Star Syndrome 57 0.032
721
MVL001 Mevalonic Aciduria 56 0.032
722
P LPR002 Leopard Syndrome 55 0.032
723
RBS003 Rabson-Mendenhall Syndrome 55 0.032
724
c EHL033 Ehlers-Danlos Syndrome, Classic Type 55 0.032
725
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.032
726
OST024 Osteoporosis-Pseudoglioma Syndrome 54 0.032
727
MLT135 Multiple Sulfatase Deficiency 53 0.032
728
LYS003 Lysinuric Protein Intolerance 52 0.032
729
MSS001 Masa Syndrome 52 0.032
730
KLN001 Klinefelter's Syndrome 50 0.032
731
STR081 Stormorken Syndrome 49 0.032
732
c ATS275 Autosomal Recessive Primary Microcephaly 48 0.032
733
c OST121 Osteogenesis Imperfecta, Type Iv 48 0.032
734
ICH054 Ichthyosis, X-Linked 46 0.032
735
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 46 0.032
736
ECT078 Ectodermal Dysplasia 2, Clouston Type 45 0.032
737
HRT031 Hartnup Disorder 45 0.032
738
GLY014 Glycerol Kinase Deficiency 44 0.032
739
P MSC022 Mosaic Variegated Aneuploidy Syndrome 44 0.032
740
VCS001 Vici Syndrome 43 0.032
741
c HRD104 Hereditary Multiple Osteochondromas 43 0.032
742
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43 0.032
743
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 39 0.032
744
c WLL027 Weill-Marchesani Syndrome 1, Recessive 39 0.032
745
BDY001 Body Dysmorphic Disorder 39 0.032
746
ARM004 Aromatase Excess Syndrome 38 0.032
747
P KLN006 Koolen-De Vries Syndrome 36 0.032
748
GLS018 Glass Syndrome 34 0.032
749
c MCP036 Mucopolysaccharidosis Ih/s 33 0.032
750
P EHL053 Ehlers-Danlos Syndrome, Progeroid Type, 2 33 0.032
751
c OST110 Osteogenesis Imperfecta, Type Xv 33 0.032
752
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 32 0.032
753
XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 32 0.032
754
c BRC047 Bruck Syndrome 1 30 0.032
755
SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 29 0.032
756
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.032
757
IMM107 Immunodeficiency 31c, Autosomal Dominant 27 0.032
758
c CNG383 Congenital Disorder of Glycosylation, Type Iik 25 0.032
759
P ATM080 Autoimmune Disease, Multisystem, Infantile-Onset 25 0.032
760
MND023 Mend Syndrome 24 0.032
761
P MNT158 Mental Retardation, Autosomal Dominant 22 24 0.032
762
c EPP009 Epiphyseal Dysplasia, Multiple, 6 24 0.032
763
NVR001 Nievergelt Syndrome 21 0.032
764
c WLL025 Weill-Marchesani Syndrome 3, Recessive 21 0.032
765
CRN049 Craniolenticulosutural Dysplasia 21 0.032
766
BRN123 Branchial Arch Syndrome, X-Linked 21 0.032
767
MSL005 Mseleni Joint Disease 19 0.032
768
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 18 0.032
769
c MNT197 Mental Retardation, X-Linked, Syndromic 9 17 0.032
770
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 17 0.032
771
c TRC100 Trichothiodystrophy 3, Photosensitive 17 0.032
772
BNG086 Bangstad Syndrome 16 0.032
773
NRF010 Neurofaciodigitorenal Syndrome 16 0.032
774
P TRC099 Trichothiodystrophy 2, Photosensitive 16 0.032
775
SPS192 Spastic Paraparesis and Deafness 16 0.032
776
CRM007 Crome Syndrome 15 0.032
777
ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 14 0.032
778
CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 14 0.032
779
BCK001 Becker Muscular Dystrophy 69 0.031
780
c CNT035 Central Nervous System Disease 60 0.031
781
GLC003 Glucose Intolerance 55 0.031
782
P TRM003 Tremor 54 0.031
783
SPC003 Specific Developmental Disorder 38 0.031
784
ANG049 Angioedema Induced by Ace Inhibitors 34 0.031
785
GLB003 Globe Disease 32 0.031
786
CNG368 Congenital Adrenal Hyperplasia 62 0.031
787
CRN036 Craniopharyngioma 59 0.031
788
c PSD066 Pseudohypoparathyroidism, Type Ib 51 0.031
789
MND007 Mandibuloacral Dysplasia 49 0.031
790
c DWL002 Dowling-Degos Disease 1 49 0.031
791
c MCL062 Mucolipidosis Ii Alpha/beta 48 0.031
792
CRT017 Cartilage Disease 45 0.031
793
DPN005 Du Pan Syndrome 45 0.031
794
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 45 0.031
795
c OST118 Osteogenesis Imperfecta, Type Viii 42 0.031
796
BRN003 Branchiooculofacial Syndrome 41 0.031
797
GNT031 Genitopatellar Syndrome 39 0.031
798
TMP012 Temple Syndrome 38 0.031
799
c RBN017 Robinow Syndrome, Autosomal Dominant 2 28 0.031
800
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 26 0.031
801
SDM002 Sed, Maroteaux Type 26 0.031
802
49X002 49,xxxxy Syndrome 25 0.031
803
FRN022 Frontofacionasal Dysplasia 24 0.031
804
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 22 0.031
805
HMF010 Hemifacial Microsomia with Radial Defects 21 0.031
806
CHR209 Chromosome 17p Duplication 21 0.031
807
CHR212 Chromosome 18p Duplication 18 0.031
808
SPN113 Spinocerebellar Ataxia with Dysmorphism 18 0.031
809
CHR252 Chromosome 5p Duplication 16 0.031
810
ACR044 Acroosteolysis Dominant Type 16 0.031
811
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 14 0.031
812
c SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 12 0.031
813
AST010 Astley-Kendall Syndrome 12 0.031
814
CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 12 0.031
815
LVR012 Liver Cirrhosis 67 0.030
816
RBR001 Roberts Syndrome 60 0.030
817
PTN001 Patent Foramen Ovale 55 0.030
818
c THR092 Thrombophilia Due to Thrombin Defect 54 0.030
819
P TRC086 Trichohepatoenteric Syndrome 1 48 0.030
820
OTS002 Otospondylomegaepiphyseal Dysplasia 48 0.030
821
c HMG001 Hemoglobin C Disease 47 0.030
822
P PLN008 Peeling Skin Syndrome 45 0.030
823
P BLD051 Blood Coagulation Disease 42 0.030
824
SPC010 Speech and Communication Disorders 41 0.030
825
NSY001 N Syndrome 36 0.030
826
GRN039 Greenberg Skeletal Dysplasia 35 0.030
827
P SMT009 Smith-Mccort Dysplasia 33 0.030
828
c DSB005 Desbuquois Dysplasia 2 23 0.030
829
c SMT018 Smith-Mccort Dysplasia 2 19 0.030
830
BND017 Bone Dysplasia, Lethal, Holmgren Type 16 0.030
831
BRC100 Brachydactyly, Combined B and E Types 15 0.030
832
MLT021 Multiple System Atrophy 70 0.030
833
P BRD002 Bardet-Biedl Syndrome 63 0.030
834
P GCH001 Gaucher's Disease 62 0.030
835
P DNT015 Dent Disease 61 0.030
836
P MYM002 Moyamoya Disease 61 0.030
837
P HRS035 Hirschsprung Disease 1 58 0.030
838
P HYP040 Hypospadias 57 0.030
839
CLF027 Cleft Palate, Isolated 55 0.030
840
P KRT007 Keratoconus 48 0.030
841
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 45 0.030
842
HYP085 Hypothalamic Disease 44 0.030
843
c CNG124 Congenital Rubella 44 0.030
844
c MCL046 Mucolipidosis Iii Alpha/beta 40 0.030
845
HYP068 Hyperostosis 40 0.030
846
c WRB002 Warburg Micro Syndrome 1 39 0.030
847
c DMN023 Diamond-Blackfan Anemia 1 38 0.030
848
c LTH007 Lethal Congenital Contracture Syndrome 1 38 0.030
849
HYP064 Hypogonadotropism 37 0.030
850
CMB021 Combined Pituitary Hormone Deficiency 37 0.030
851
CHR492 Chromosome 13q14 Deletion Syndrome 36 0.030
852
c NNN012 Noonan Syndrome 5 33 0.030
853
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.030
854
c NNN011 Noonan Syndrome 4 32 0.030
855
ATY016 Atypical Werner Syndrome 28 0.030
856
P LNR015 Linear Skin Defects with Multiple Congenital Anomalies 27 0.030
857
OCL033 Oculocerebral Syndrome with Hypopigmentation 24 0.030
858
FMR016 Femur-Fibula-Ulna Syndrome 22 0.030
859
PRG123 Progeroid Syndrome, Neonatal 22 0.030
860
MBD001 Mbd5 Haploinsufficiency 20 0.030
861
c MNT212 Mental Retardation, Autosomal Dominant 26 20 0.030
862
KLP011 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 20 0.030
863
DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 20 0.030
864
c BRC080 Brachydactyly, Type A1, B 20 0.030
865
AXL004 Axial Mesodermal Dysplasia Spectrum 19 0.030
866
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 19 0.030
867
FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 19 0.030
868
DPL009 Duplication of the Pituitary Gland 18 0.030
869
49X001 49, Xxxxx 17 0.030
870
P ALP068 Alopecia-Intellectual Disability Syndrome 16 0.030
871
MYP111 Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 16 0.030
872
EPL162 Epilepsy-Telangiectasia 16 0.030
873
CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 16 0.030
874
SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 16 0.030
875
P PRG124 Progeroid Syndrome, Congenital, Petty Type 16 0.030
876
PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 15 0.030
877
P MNS011 Monosomy 9q22.3 15 0.030
878
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 0.030
879
HYP689 Hypomelia with Mullerian Duct Anomalies 14 0.030
880
CHR416 Chromosome 17q Deletion 14 0.030
881
DST045 Distal Trisomy 6p 13 0.030
882
NND003 Non-Distal Trisomy 10q 13 0.030
883
HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 13 0.030
884
16P003 16p13.11 Microdeletion Syndrome 12 0.030
885
PLY088 Polyvalvular Heart Disease Syndrome 12 0.030
886
CRN260 Craniodigital Syndrome-Intellectual Disability Syndrome 12 0.030
887
DST061 Distal Xq28 Microduplication Syndrome 12 0.030
888
HRR003 Herrmann Opitz Craniosynostosis 12 0.030
889
15Q003 15q14 Microdeletion Syndrome 12 0.030
890
XP2002 Xp22.13p22.2 Duplication Syndrome 12 0.030
891
P MTR057 Maternal Uniparental Disomy of Chromosome X 12 0.030
892
CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 11 0.030
893
DRM038 Dermotrichic Syndrome 11 0.030
894
INT295 Intellectual Disability-Polydactyly-Uncombable Hair Syndrome 11 0.030
895
DST038 Distal Monosomy 7q36 11 0.030
896
INT287 Intellectual Disability-Hypotonia-Skin Hyperpigmentation Syndrome 10 0.030
897
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.030
898
MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 10 0.030
899
SHL007 Shoulder and Girdle Defects-Familial Intellectual Disability Syndrome 10 0.030
900
XLN209 X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome 10 0.030
901
SPN146 Spondylometaphyseal Dysplasia East-African Type 6 0.030
902
CNG008 Congenital Ichthyosiform Erythroderma 56 0.029
903
P WVR001 Weaver Syndrome 56 0.029
904
PRT014 Protein S Deficiency 53 0.029
905
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.029
906
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 31 0.029
907
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 26 0.029
908
P OCL013 Oculodentodigital Dysplasia 59 0.029
909
P NPH012 Nephrotic Syndrome 59 0.029
910
P HMP007 Hemophilia 57 0.029
911
INT007 Intermediate Coronary Syndrome 50 0.029
912
P KLP003 Klippel-Feil Syndrome 46 0.029
913
P SYN012 Synpolydactyly 38 0.029
914
c OST147 Osteoarthritis 1 30 0.029
915
RFM001 Roifman Syndrome 26 0.029
916
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 20 0.029
917
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 17 0.029
918
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 10 0.029
919
P NRF002 Neurofibromatosis 71 0.028
920
FBR012 Fabry Disease 69 0.028
921
P MYS005 Myositis 57 0.028
922
VGT001 Vogt-Koyanagi-Harada Disease 54 0.028
923
TWN003 Townes-Brocks Syndrome 53 0.028
924
WGR001 Wagr Syndrome 53 0.028
925
ACR008 Acrocallosal Syndrome 52 0.028
926
LPD009 Lipid Storage Disease 49 0.028
927
NNT017 Neonatal Adrenoleukodystrophy 47 0.028
928
CRN248 Craniofrontonasal Dysplasia 45 0.028
929
P BRC015 Bruck Syndrome 44 0.028
930
c CHN062 Chondrodysplasia Punctata, Rhizomelic, Type 1 42 0.028
931
THR009 Thrombocytopenia-Absent Radius Syndrome 41 0.028
932
ATS010 Autosomal Recessive Disease 41 0.028
933
c STC015 Stickler Syndrome, Type I 36 0.028
934
c MCR263 Microphthalmia, Syndromic 1 34 0.028
935
SLP010 Slipped Capital Femoral Epiphysis 34 0.028
936
CLC057 Cole-Carpenter Syndrome 33 0.028
937
c EXS004 Exostoses, Multiple, Type 1 33 0.028
938
P CHR084 Chromosomal Disease 32 0.028
939
CTL005 Catel-Manzke Syndrome 31 0.028
940
c NNN013 Noonan Syndrome 6 30 0.028
941
c NNN020 Noonan Syndrome 7 29 0.028
942
TRD003 Taurodontism 28 0.028
943
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 28 0.028
944
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 28 0.028
945
c MCP023 Mucopolysaccharidosis Type Ivb 27 0.028
946
FLP001 Filippi Syndrome 26 0.028
947
c PRC047 Precocious Puberty, Central, 1 26 0.028
948
c EXS005 Exostoses, Multiple, Type 2 26 0.028
949
MSM016 Mesomelic Dysplasia, Kantaputra Type 25 0.028
950
PRP090 Peripheral Dysostosis 24 0.028
951
PRS051 Parastremmatic Dwarfism 24 0.028
952
c ATS004 Autosomal Dominant Microcephaly 24 0.028
953
CRB147 Cerebellofaciodental Syndrome 23 0.028
954
c BRT039 Baraitser-Winter Syndrome 2 21 0.028
955
MGL033 Megalocornea-Mental Retardation Syndrome 20 0.028
956
c FNC052 Fanconi Anemia, Complementation Group T 20 0.028
957
SPN125 Spondyloenchondrodysplasia 19 0.028
958
ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 17 0.028
959
THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 11 0.028
960
P ALG002 Alagille Syndrome 72 0.028
961
c HMP029 Hemophilia a 63 0.028
962
CRD119 Cardiac Arrest 61 0.028
963
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60 0.028
964
P CNG015 Congenital Diaphragmatic Hernia 60 0.028
965
P GRV001 Graves' Disease 59 0.028
966
RTN017 Retinal Detachment 56 0.028
967
P DGR001 Digeorge Syndrome 53 0.028
968
GTR002 Goiter 52 0.028
969
KRT009 Keratosis 52 0.028
970
INT075 Intracranial Hypertension 50 0.028
971
CHR101 Char Syndrome 49 0.028
972
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.028
973
CNV002 Conversion Disorder 41 0.028
974
MRS004 Marshall-Smith Syndrome 40 0.028
975
PTC001 Potocki-Shaffer Syndrome 36 0.028
976
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 33 0.028
977
YNG002 Young Syndrome 26 0.028
978
FTZ005 Fitzsimmons-Guilbert Syndrome 20 0.028
979
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 16 0.028
980
BRC095 Brachydactyly, Mononen Type 15 0.028
981
KNS006 Kniest-Like Dysplasia, Lethal 14 0.028
982
CNT099 Contractural Arachnodactyly, Congenital 40 0.027
983
FML063 Familial Glucocorticoid Deficiency 36 0.027
984
LJN003 Lujan-Fryns Syndrome 30 0.027
985
P PHC003 Pheochromocytoma 71 0.026
986
SCK003 Sickle Cell Anemia 71 0.026
987
P CHR071 Charcot-Marie-Tooth Disease 67 0.026
988
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.026
989
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.026
990
NPH003 Nephrocalcinosis 48 0.026
991
CLV009 Clove Syndrome, Somatic 41 0.026
992
BMR001 Boomerang Dysplasia 40 0.026
993
ATN011 Autoinflammation with Infantile Enterocolitis 39 0.026
994
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 26 0.026
995
c CRN109 Cranioectodermal Dysplasia 2 22 0.026
996
BRN062 Burn-Mckeown Syndrome 22 0.026
997
PRP093 Pierpont Syndrome 21 0.026
998
ACR067 Acrodysostosis 2, with or Without Hormone Resistance 21 0.026
999
CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 16 0.026
1000
MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 16 0.026
1001
2Q3002 2q37 Microdeletion Syndrome 15 0.026
1002
PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 15 0.026
1003
BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 13 0.026
1004
CRN156 Craniofacioskeletal Syndrome 12 0.026
1005
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.026
1006
P CWD001 Cowden Disease 64 0.026
1007
MCK007 Muckle-Wells Syndrome 61 0.026
1008
P RCK004 Rickets 61 0.026
1009
KRN002 Kearns-Sayre Syndrome 61 0.026
1010
LPR018 Leprechaunism 58 0.026
1011
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 0.026
1012
c GLY060 Glycogen Storage Disease Ia 57 0.026
1013
P AGM005 Agammaglobulinemia, X-Linked 1 57 0.026
1014
ARG002 Argininosuccinic Aciduria 57 0.026
1015
P BCK002 Beckwith-Wiedemann Syndrome 56 0.026
1016
P DST002 Distal Arthrogryposis 56 0.026
1017
P ANT006 Antiphospholipid Syndrome 56 0.026
1018
HMF006 Hemifacial Microsomia 55 0.026
1019
TTH002 Tooth Agenesis 54 0.026
1020
NLP001 Nail-Patella Syndrome 54 0.026
1021
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.026
1022
BRT005 Barth Syndrome 52 0.026
1023
MCK005 Mckusick-Kaufman Syndrome 52 0.026
1024
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 52 0.026
1025
c PRX045 Peroxisome Biogenesis Disorder 1b 52 0.026
1026
c ATX006 Ataxia-Telangiectasia-Like Disorder 51 0.026
1027
P GRS003 Griscelli Syndrome 51 0.026
1028
c GNG001 Gangliosidosis Gm1 51 0.026
1029
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 49 0.026
1030
P SNR012 Senior-Loken Syndrome-1 49 0.026
1031
CHN055 Chanarin-Dorfman Syndrome 49 0.026
1032
46X003 46,xx Testicular Disorder of Sex Development 48 0.026
1033
GYN001 Gynecomastia 48 0.026
1034
P BRT004 Bartter Disease 47 0.026
1035
ERY021 Erythrokeratodermia Variabilis Et Progressiva 47 0.026
1036
c GLY005 Glycogen Storage Disease Vi 47 0.026
1037
NTR003 Natural Killer Cell Leukemia 47 0.026
1038
EST007 Estrogen Resistance 46 0.026
1039
GRW024 Growth Hormone Deficiency, Isolated, Type Ii 45 0.026
1040
c ATS013 Autosomal Recessive Congenital Ichthyosis 45 0.026
1041
MSC051 Muscular Dystrophy, Rigid Spine, 1 45 0.026
1042
P AML002 Amelogenesis Imperfecta 45 0.026
1043
CHR105 Choreoacanthocytosis 44 0.026
1044
P DNT011 Dentinogenesis Imperfecta 44 0.026
1045
HYP596 Hypophosphatasia, Childhood 44 0.026
1046
HYP077 Hypertrichosis 44 0.026
1047
P SLL003 Salla Disease 43 0.026
1048
MTS001 Mutism 43 0.026
1049
c BRC048 Bruck Syndrome 2 42 0.026
1050
P CRN013 Craniodiaphyseal Dysplasia 42 0.026
1051
ALB001 Albright's Hereditary Osteodystrophy 41 0.026
1052
RDD003 Riddle Syndrome 41 0.026
1053
GND001 Gonadoblastoma 41 0.026
1054
PKL001 Poikiloderma with Neutropenia 40 0.026
1055
MLT145 Multiple Enchondromatosis, Maffucci Type 40 0.026
1056
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 0.026
1057
HYP135 Hypophosphatemic Rickets with Hypercalciuria 39 0.026
1058
c PSD092 Pseudohypoaldosteronism, Type Iie 38 0.026
1059
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 38 0.026
1060
RCK007 Rickets, Vitamin D-Resistant, Type Iia 37 0.026
1061
MYT015 Myotonia Congenita, Atypical, Acetazolamide-Responsive 36 0.026
1062
c GLY016 Glycogen Storage Disease Ib 36 0.026
1063
HYP315 Hyperparathyroidism, Neonatal 35 0.026
1064
c ATS239 Autosomal Recessive Hypophosphatemic Rickets 35 0.026
1065
P HYP599 Hypoparathyroidism, Familial Isolated 34 0.026
1066
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 34 0.026
1067
PHS018 Phosphorylase Kinase Deficiency 34 0.026
1068
KHL003 Kohlschutter-Tonz Syndrome 32 0.026
1069
c ATS076 Autosomal Recessive Stickler Syndrome 32 0.026
1070
GPS001 Gapo Syndrome 31 0.026
1071
c FML297 Familial Thyroid Dyshormonogenesis 31 0.026
1072
VSL002 Visual Epilepsy 31 0.026
1073
ATH010 Athyreosis 31 0.026
1074
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 31 0.026
1075
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 31 0.026
1076
DYS133 Dyschromatosis Universalis 31 0.026
1077
c CNG208 Congenital Disorder of Glycosylation, Type Iic 31 0.026
1078
AMY086 Amyotrophy, Hereditary Neuralgic 30 0.026
1079
P OTF002 Otofaciocervical Syndrome 30 0.026
1080
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 30 0.026
1081
P MTP005 Metaphyseal Anadysplasia 30 0.026
1082
c DMN017 Diamond-Blackfan Anemia 10 29 0.026
1083
CYL001 Cayler Cardiofacial Syndrome 29 0.026
1084
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 29 0.026
1085
GRN016 Grant Syndrome 29 0.026
1086
c PNT037 Pontocerebellar Hypoplasia, Type 3 28 0.026
1087
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 28 0.026
1088
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.026
1089
MTC059 Mitochondrial Dna Depletion Syndrome 5 27 0.026
1090
c DMN029 Diamond-Blackfan Anemia 11 27 0.026
1091
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 26 0.026
1092
c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 26 0.026
1093
RNL026 Renal Tubular Acidosis with Deafness 26 0.026
1094
P DMN036 Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 26 0.026
1095
GRD005 Geroderma Osteodysplasticum 26 0.026
1096
THY098 Thyroid Ectopia 25 0.026