Search results for "short stature"

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

1996 hits were found for 'short stature'

# Family MCID Name MIFTS Score
1
P SHR029 Short Syndrome 60 4.622
2
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 3.886
3
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 3.452
4
SHR042 Short Stature, Idiopathic Familial 27 3.442
5
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 23 3.432
6
P MRG008 Meier-Gorlin Syndrome 1 44 3.426
7
ECT073 Ectodermal Dysplasia/short Stature Syndrome 20 3.421
8
KBG001 Kbg Syndrome 49 3.192
9
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 36 3.178
10
FLS001 Fils Syndrome 28 3.176
11
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 20 3.173
12
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 16 3.171
13
MYH012 Myhre Syndrome 35 2.910
14
SHR023 Short Stature Syndrome, Brussels Type 15 2.910
15
P MCR235 Microcephaly, Short Stature, and Impaired Glucose Metabolism 18 2.907
16
OST076 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 18 2.905
17
HYP648 Hypertension and Brachydactyly Syndrome 23 2.896
18
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 14 2.616
19
PRG023 Progeroid Short Stature with Pigmented Nevi 18 2.611
20
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 17 2.611
21
3MS007 3-M Syndrome 1 42 2.611
22
SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 23 2.607
23
WDM004 Wiedemann-Steiner Syndrome 39 2.604
24
PTT044 Pituitary Hormone Deficiency, Combined, 4 29 2.583
25
MCR072 Microdontia Hypodontia Short Stature 3 2.411
26
ALG003 Al Gazali Aziz Salem Syndrome 11 2.392
27
SBR011 Subaortic Stenosis--Short Stature Syndrome 14 2.281
28
GMS002 Gms Syndrome 22 2.273
29
DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 14 2.271
30
DNT045 Dental Anomalies and Short Stature 23 2.262
31
GRW026 Growth Hormone Insensitivity, Partial 23 2.259
32
SHR065 Short Stature with Microcephaly and Distinctive Facies 13 2.257
33
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 41 2.257
34
CHP002 Chops Syndrome 36 2.255
35
STL007 Steel Syndrome 32 2.255
36
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 15 2.255
37
GRW023 Growth Hormone Deficiency, Isolated Partial 25 2.253
38
DVL017 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 11 2.253
39
SHR100 Short Stature, Developmental Delay, and Congenital Heart Defects 10 2.253
40
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 24 2.248
41
c TRC102 Trichothiodystrophy 1, Photosensitive 49 2.246
42
c MCR228 Microphthalmia, Syndromic 13 21 2.238
43
LRN004 Laron Dwarfism 59 1.903
44
AYM001 Ayme-Gripp Syndrome 45 1.878
45
P CFF001 Coffin-Siris Syndrome 50 1.871
46
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 15 1.865
47
EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 13 1.863
48
FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 11 1.863
49
CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 10 1.863
50
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 5 1.863
51
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 1.863
52
CLF019 Cleft Palate Short Stature Vertebral Anomalies 11 1.861
53
MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 12 1.861
54
MTP004 Metaphyseal Acroscyphodysplasia 18 1.860
55
SHR084 Short Stature with Nonspecific Skeletal Abnormalities 11 1.857
56
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 8 1.857
57
LMB025 Lumbar Malsegmentation Short Stature 3 1.857
58
GRR002 Gurrieri Syndrome 20 1.855
59
TRG019 Trigonocephaly with Short Stature and Developmental Delay 15 1.850
60
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12 1.850
61
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 9 1.850
62
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 1.850
63
OST149 Osteolysis Syndrome, Recessive 16 1.847
64
DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 10 1.847
65
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 1.847
66
c FML169 Familial Osteochondritis Dissecans 29 1.842
67
RMM001 Rommen Mueller Sybert Syndrome 12 1.842
68
CSN001 Cousin Syndrome 28 1.840
69
c FNG009 Feingold Syndrome 2 21 1.840
70
JRG001 Jorgenson Lenz Syndrome 17 1.840
71
PLY104 Polymicrogyria with Seizures 22 1.834
72
MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10 1.834
73
SYM004 Say Meyer Syndrome 6 1.834
74
CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 6 1.834
75
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 26 1.824
76
HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 11 1.813
77
BRK005 Berk-Tabatznik Syndrome 6 1.813
78
DWR002 Dauwerse-Peters Syndrome 3 1.813
79
CLD006 Cleidorhizomelic Syndrome 13 1.724
80
P THN009 Thanatophoric Dysplasia, Type I 62 1.636
81
c WLL026 Weill-Marchesani Syndrome 2, Dominant 27 1.584
82
SHR021 Short Stature Prognathism Short Femoral Necks 2 1.567
83
PRG125 Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 5 1.558
84
SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 9 1.545
85
PSY015 Psychosocial Short Stature 13 1.409
86
ACD009 Acid-Labile Subunit, Deficiency of 48 1.396
87
FLT006 Floating-Harbor Syndrome 41 1.377
88
P EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 38 1.349
89
DBW001 Dubowitz Syndrome 46 1.348
90
CRN266 Craniofacial Dyssynostosis with Short Stature 15 1.342
91
SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 10 1.340
92
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 14 1.338
93
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 15 1.336
94
PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 14 1.336
95
12Q002 12q14 Microdeletion Syndrome 24 1.333
96
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6 1.333
97
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.333
98
EXT038 Extrasystoles Short Stature Hyperpigmentation Microcephaly 3 1.333
99
SYS006 Say Syndrome 31 1.333
100
c LRS002 Larsen-Like Syndrome 36 1.331
101
SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 8 1.329
102
DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 7 1.329
103
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 1.328
104
GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 13 1.328
105
SHR027 Short Stature Wormian Bones Dextrocardia 8 1.328
106
SHR016 Short Stature Deafness Neutrophil Dysfunction 4 1.328
107
SHR049 Short Stature with Optic Atrophy and Pelger-Hu√ęt Anomaly Syndrome 4 1.328
108
IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 20 1.326
109
STR088 Stratton-Parker Syndrome 16 1.326
110
CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 14 1.326
111
XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 11 1.326
112
ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 11 1.326
113
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 10 1.326
114
INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 6 1.326
115
GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 6 1.326
116
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 1.326
117
MNT025 Mental Retardation Short Stature Deafness Genital 3 1.326
118
NRR003 Narrow Oral Fissure Short Stature Cone Shaped Epiphyses 3 1.326
119
c OVR107 Ovarian Dysgenesis 4 25 1.323
120
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 17 1.323
121
SHR025 Short Stature Valvular Heart Disease 5 1.323
122
SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3 1.323
123
CRN070 Corneodermatoosseous Syndrome 17 1.320
124
MSM004 Mesomelia-Synostoses Syndrome 23 1.320
125
SHR014 Short Stature Contractures Hypotonia 2 1.319
126
OLV004 Oliver-Mcfarlane Syndrome 31 1.317
127
HRY005 Hairy Elbows 27 1.317
128
GRW003 Growth Hormone Insensitivity with Immunodeficiency 19 1.317
129
RDR002 Rodrigues Blindness 15 1.317
130
ARC009 Auriculoosteodysplasia 13 1.317
131
PFF010 Pfeiffer-Palm-Teller Syndrome 13 1.317
132
SHR092 Short Stature-Intellectual Disability-Eye Anomalies-Cleft Lip/palate Syndrome 11 1.317
133
INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 10 1.317
134
SVR046 Severe Lateral Tibial Bowing with Short Stature 5 1.317
135
MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 3 1.317
136
SHX002 Shox-Related Short Stature 3 1.317
137
ART036 Arthritis Short Stature Deafness 3 1.317
138
HYP217 Hypoparathyroidism Short Stature Mental Retardation 2 1.317
139
PRC022 Pericardium Absent Mental Retardation Short Stature 2 1.317
140
SYM010 Symphalangism Short Stature Accessory Testis 2 1.317
141
THM004 Thumb Absent Short Stature Immune Deficiency 2 1.317
142
THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2 1.317
143
ANK003 Ankle Defects Short Stature 2 1.317
144
ACR028 Acrodysplasia with Ossification Abnormalities, Short Stature and Fibular Hypoplasia 2 1.317
145
HYL003 Hyalinosis Systemic Short Stature 2 1.317
146
SYN029 Synostosis of Talus and Calcaneus Short Stature 2 1.317
147
PLT011 Pilotto Syndrome 17 1.314
148
SHR018 Short Stature Mental Retardation Eye Anomalies 4 1.314
149
SHR013 Short Stature Abnormal Skin Pigmentation Mental Retardation 3 1.314
150
SHR019 Short Stature Microcephaly Seizures Deafness 2 1.314
151
SHR024 Short Stature Talipes Natal Teeth 2 1.314
152
SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2 1.314
153
SHR017 Short Stature Dysmorphic Face Pelvic Scapula Dysplasia 2 1.314
154
SHR020 Short Stature Monodactylous Ectrodactyly Cleft Palate 2 1.314
155
SHR022 Short Stature Robin Sequence Cleft Mandible Hand Anomalies Clubfoot 2 1.314
156
SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 8 1.311
157
P WLL011 Weill-Marchesani-Like Syndrome 23 1.308
158
c MNT249 Mental Retardation, X-Linked 12/35 21 1.308
159
KWR001 Kowarski Syndrome 20 1.308
160
c MNT166 Mental Retardation, Autosomal Recessive 39 19 1.308
161
DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6 1.308
162
SHR099 Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome 5 1.308
163
INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3 1.308
164
CRN083 Craniofacial Dyssynostosis 9 1.304
165
CNS012 Cono-Spondylar Dysplasia 10 1.300
166
AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 23 1.297
167
c BMN004 Biemond Syndrome Ii 14 1.297
168
HND005 Hand and Foot Deformity with Flat Facies 13 1.297
169
VLJ001 Viljoen Kallis Voges Syndrome 12 1.297
170
DVR003 Devriendt Syndrome 8 1.297
171
CHD003 Chudley Rozdilsky Syndrome 7 1.297
172
TNK001 Tonoki Syndrome 5 1.297
173
ZRS001 Zori Stalker Williams Syndrome 4 1.297
174
HNT008 Hunter Rudd Hoffmann Syndrome 4 1.297
175
THY064 Thyroid Hormone Metabolism, Abnormal 25 1.282
176
c SPS042 Spastic Paraplegia 9 20 1.282
177
RNN006 Reunion Island Larsen Syndrome 18 1.282
178
DRM015 Dermoids of Cornea 15 1.282
179
c FCS008 Fucosidosis Type 1 10 1.282
180
HNT009 Hunter-Mcalpine Syndrome 9 1.282
181
THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 7 1.282
182
XLN128 X-Linked Intellectual Disability, Abidi Type 7 1.282
183
LHX002 Lhx4-Related Combined Pituitary Hormone Deficiency 6 1.282
184
SYF001 Say-Field-Coldwell Syndrome 6 1.282
185
SCH020 Schaap Taylor Baraitser Syndrome 5 1.282
186
PFF002 Pfeiffer Kapferer Syndrome 5 1.282
187
BDH001 Boudhina Yedes Khiari Syndrome 4 1.282
188
CNT052 Cantalamessa Baldini Ambrosi Syndrome 4 1.282
189
PFF003 Pfeiffer Mayer Syndrome 4 1.282
190
MLN017 Milner Khallouf Gibson Syndrome 4 1.282
191
ZRR001 Zerres Rietschel Majewski Syndrome 4 1.282
192
ALG004 Al Gazali Khidr Prem Chandran Syndrome 4 1.282
193
MGR005 Megarbane Syndrome 4 1.282
194
THD001 Theodor Hertz Goodman Syndrome 4 1.282
195
DRC002 D Ercole Syndrome 3 1.282
196
FNG007 Feingold Trainer Syndrome 3 1.282
197
CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3 1.282
198
SLV009 Slavotinek Pike Mills Hurst Syndrome 3 1.282
199
GRW007 Growth Hormone Deficiency 48 0.149
200
P MCR010 Microcephaly 58 0.138
201
DWR001 Dwarfism 46 0.131
202
INS024 Insulin-Like Growth Factor I 74 0.130
203
P OBS005 Obesity 93 0.115
204
P BRC006 Brachydactyly 52 0.112
205
ACR002 Acrocapitofemoral Dysplasia 36 0.108
206
P INT063 Intellectual Disability 53 0.100
207
BND014 Bone Development Disease 42 0.093
208
P PLY006 Polydactyly 55 0.090
209
P TRN020 Turner Syndrome 64 0.089
210
P HRT032 Heart Disease 76 0.086
211
LRW001 Leri-Weill Dyschondrosteosis 40 0.084
212
P HPT021 Hepatitis 70 0.083
213
RTN023 Retinitis 49 0.077
214
ISL003 Isolated Growth Hormone Deficiency 44 0.075
215
HYP080 Hypogonadism 54 0.074
216
NTR005 Nutritional Deficiency Disease 39 0.072
217
HYP042 Hypochondroplasia 57 0.071
218
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.069
219
ELL001 Ellis-Van Creveld Syndrome 57 0.069
220
CSY001 C Syndrome 49 0.069
221
KDS001 Kid Syndrome 53 0.068
222
P ART022 Arthritis 75 0.067
223
P DSB006 Desbuquois Dysplasia 1 53 0.066
224
CHL071 Child Syndrome 58 0.066
225
P GND004 Gonadal Dysgenesis 53 0.065
226
P CLC005 Celiac Disease 67 0.065
227
ACH004 Achondroplasia 66 0.065
228
CRB009 Cerebritis 38 0.064
229
ARS001 Aarskog-Scott Syndrome 52 0.062
230
P THY032 Thyroiditis 54 0.062
231
P NNN008 Noonan Syndrome 1 67 0.061
232
P OST012 Osteoarthritis 82 0.061
233
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 45 0.061
234
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 48 0.061
235
PRS047 Prostatitis 56 0.061
236
BNS002 Bone Structure Disease 36 0.061
237
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.061
238
ALR002 Al-Raqad Syndrome 36 0.061
239
P CTR002 Cataract 57 0.060
240
c BRC082 Brachydactyly, Type E 39 0.060
241
P SCL018 Scoliosis 56 0.059
242
PSD012 Pseudoachondroplasia 51 0.058
243
SPN154 Spondyloperipheral Dysplasia 31 0.058
244
SKL014 Skeletal Dysplasia 46 0.058
245
SKL017 Skeletal Dysplasias 45 0.058
246
ACR043 Acromicric Dysplasia 30 0.058
247
SDC002 Sed Congenita 45 0.058
248
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 36 0.057
249
RNP001 Renpenning Syndrome 48 0.057
250
LNG040 Langer Mesomelic Dysplasia 30 0.057
251
P ATX004 Ataxia 53 0.057
252
P AST005 Asthma 82 0.057
253
P INT068 Intestinal Disease 61 0.056
254
TBR010 Tuberculosis 69 0.056
255
SYN005 Synostosis 45 0.056
256
P PRD006 Prader-Willi Syndrome 63 0.056
257
CRT002 Cartilage-Hair Hypoplasia 58 0.055
258
c RBN009 Robinow Syndrome, Autosomal Recessive 32 0.055
259
BRT030 Birth Defects 43 0.054
260
SMD002 Smed Strudwick Type 40 0.054
261
DYG001 Dyggve-Melchior-Clausen Disease 24 0.054
262
KNS001 Kniest Dysplasia 53 0.054
263
P BRC045 Brachyolmia Type 3 33 0.054
264
P CRV039 Cervicitis 44 0.054
265
P LVR013 Liver Disease 72 0.053
266
c BRN108 Branchiootic Syndrome 1 36 0.053
267
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.053
268
c CNG413 Congenital Short Bowel Syndrome 36 0.053
269
SKN016 Skin Disease 68 0.053
270
ACR041 Acromelic Frontonasal Dysostosis 46 0.053
271
RSP006 Respiratory System Disease 62 0.052
272
CHN057 Chondrodysplasia, Grebe Type 34 0.052
273
P PTS002 Ptosis 56 0.052
274
P LRS001 Larsen Syndrome 51 0.052
275
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 43 0.052
276
NCL006 Nicolaides-Baraitser Syndrome 39 0.052
277
c EPP017 Epiphyseal Dysplasia, Multiple, 1 32 0.052
278
PTR006 Peters Anomaly 64 0.052
279
CLF001 Cleft Lip 49 0.052
280
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 38 0.051
281
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 41 0.051
282
P CLD001 Cleidocranial Dysplasia 62 0.051
283
P DRR001 Diarrhea 51 0.051
284
c PSD067 Pseudohypoparathyroidism Ia 52 0.051
285
SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28 0.051
286
PRM025 Primary Bacterial Infectious Disease 43 0.050
287
HYP056 Hypoglycemia 61 0.050
288
CST001 Costello Syndrome 69 0.050
289
P CRN139 Cornelia De Lange Syndrome 1 60 0.050
290
HV1006 Hiv-1 82 0.050
291
CNG034 Congestive Heart Failure 71 0.050
292
SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 25 0.050
293
CHN016 Cohen Syndrome 55 0.050
294
c BRC078 Brachydactyly, Type A1 45 0.050
295
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 27 0.049
296
P SLV001 Silver-Russell Syndrome 54 0.049
297
P RBN001 Rubinstein-Taybi Syndrome 65 0.049
298
c WLL027 Weill-Marchesani Syndrome 1, Recessive 44 0.049
299
P MYP004 Myopathy 67 0.049
300
WLL001 Williams-Beuren Syndrome 61 0.049
301
SCH016 Schimke Immunoosseous Dysplasia 49 0.049
302
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.049
303
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.048
304
c CMP072 Camptodactyly Syndrome, Guadalajara, Type I 17 0.048
305
P RHM011 Rheumatoid Arthritis 88 0.048
306
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.048
307
SPS057 Spasticity 42 0.048
308
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 0.048
309
P STC001 Stickler Syndrome 54 0.048
310
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 0.048
311
P HLL001 Hallermann-Streiff Syndrome 53 0.048
312
PYC001 Pycnodysostosis 49 0.048
313
SXD001 Sex Differentiation Disease 40 0.048
314
BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 25 0.048
315
LPD008 Lipid Metabolism Disorder 58 0.048
316
CMP005 Campomelic Dysplasia 72 0.047
317
P KBK002 Kabuki Syndrome 1 49 0.047
318
c RBN018 Robinow Syndrome, Autosomal Dominant 1 48 0.047
319
CDS002 Codas Syndrome 40 0.047
320
c ACH035 Achondrogenesis Ib 44 0.047
321
c SPN330 Spondylocostal Dysostosis 5 35 0.047
322
CHR543 Chromosome 2q37 Deletion Syndrome 29 0.047
323
BLM001 Bloom Syndrome 62 0.047
324
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 34 0.047
325
P NRP001 Neuropathy 60 0.047
326
HND003 Hand-Foot-Uterus Syndrome 47 0.047
327
CLF004 Cleft Lip/palate 46 0.046
328
P MSC005 Muscular Dystrophy 64 0.046
329
P HYP060 Hyperinsulinism 59 0.046
330
SHW002 Shwachman-Diamond Syndrome 60 0.046
331
P CCK001 Cockayne Syndrome 59 0.046
332
DST005 Diastrophic Dysplasia 52 0.046
333
c THN010 Thanatophoric Dysplasia, Type Ii 49 0.046
334
c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 15 0.046
335
NRN002 Neuronitis 42 0.046
336
PLC008 Placenta Disease 36 0.046
337
CFF002 Coffin-Lowry Syndrome 55 0.045
338
MRS002 Marshall Syndrome 50 0.045
339
P HYP265 Hypotonia 39 0.045
340
CRD002 Cri-Du-Chat Syndrome 48 0.045
341
P ACH011 Achondrogenesis 38 0.045
342
P SCH015 Schizophrenia 76 0.045
343
c BRC081 Brachydactyly, Type C 39 0.045
344
P MLT007 Multiple Epiphyseal Dysplasia 51 0.045
345
c MCP024 Mucopolysaccharidosis Type Vi 61 0.044
346
P SLD010 Sialidosis, Type I 54 0.044
347
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 0.044
348
WYR002 Weyers Acrofacial Dysostosis 36 0.044
349
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 32 0.044
350
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 25 0.044
351
BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 22 0.044
352
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 18 0.044
353
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.044
354
P PNM007 Pneumonia 66 0.044
355
SKN023 Skin Tag 46 0.044
356
OPS002 Opsismodysplasia 32 0.044
357
P DYS007 Dyskeratosis Congenita 63 0.044
358
ACR013 Acrodysostosis 49 0.044
359
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.044
360
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 21 0.044
361
P CRD011 Cardiomyopathy 67 0.044
362
P CRN178 Coronary Heart Disease 6 24 0.044
363
c HPT016 Hepatitis B 64 0.044
364
MTH009 Mouth Disease 63 0.044
365
P HYP086 Hypothyroidism 65 0.043
366
WLF002 Wolf-Hirschhorn Syndrome 45 0.043
367
HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53 0.043
368
c MCP009 Mucopolysaccharidosis Ii 62 0.043
369
P HYP083 Hypopituitarism 52 0.043
370
BLL001 Baller-Gerold Syndrome 51 0.043
371
ABR009 Abruzzo-Erickson Syndrome 40 0.043
372
CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 13 0.043
373
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.043
374
P ANR007 Anorexia Nervosa 63 0.043
375
RHM027 Rheumatic Disease 57 0.043
376
LRN003 Learning Disability 51 0.043
377
SMT004 Smith-Lemli-Opitz Syndrome 67 0.043
378
P RTH001 Rothmund-Thomson Syndrome 57 0.043
379
SMT008 Smith-Magenis Syndrome 51 0.043
380
P SPN061 Spondyloepiphyseal Dysplasia Tarda 40 0.043
381
c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 33 0.043
382
MTT002 Metatropic Dysplasia 30 0.043
383
MCR308 Microcephalic Primordial Dwarfism, Toriello Type 17 0.043
384
FMR018 Femoral-Facial Syndrome 27 0.043
385
STR067 Stroke, Ischemic 77 0.042
386
ANR040 Aneurysm 57 0.042
387
c ACH033 Achondrogenesis, Type Ia 43 0.042
388
c GLY019 Glycogen Storage Disease Iiia 50 0.042
389
PRP016 Paraplegia 49 0.042
390
c TRC092 Trichorhinophalangeal Syndrome, Type I 45 0.042
391
c ART120 Arthrogryposis, Distal, Type 3 41 0.042
392
SCH068 Schwartz-Jampel Syndrome, Type 1 32 0.042
393
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 34 0.042
394
WRN001 Werner Syndrome 67 0.042
395
P CRD013 Cardiofaciocutaneous Syndrome 63 0.042
396
SPN331 Spondyloocular Syndrome 27 0.042
397
c PSD058 Pseudohypoparathyroidism Ic 25 0.042
398
SPN180 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 25 0.042
399
ARM006 Armfield X-Linked Mental Retardation Syndrome 18 0.042
400
SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 26 0.042
401
KYP002 Kyphomelic Dysplasia 23 0.042
402
P MNN013 Meningitis 65 0.041
403
P CRN108 Cranioectodermal Dysplasia 1 47 0.041
404
CRD137 Cardiogenic Shock 46 0.041
405
c CRN175 Coronary Heart Disease 4 21 0.041
406
P PRC019 Precocious Puberty 51 0.041
407
P SJG002 Sjogren-Larsson Syndrome 51 0.041
408
NRF008 Neurofibromatosis-Noonan Syndrome 44 0.041
409
c MCL016 Mucolipidosis Iii Gamma 38 0.041
410
MCR103 Microtia 37 0.041
411
SCH071 Schaaf-Yang Syndrome 26 0.041
412
c EPP015 Epiphyseal Dysplasia, Multiple, 3 23 0.041
413
c EPP012 Epiphyseal Dysplasia, Multiple, 2 23 0.041
414
P LPD010 Lipodystrophy 52 0.041
415
P FNG005 Feingold Syndrome 43 0.041
416
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 18 0.041
417
P RTN008 Retinitis Pigmentosa 79 0.041
418
c ORF040 Orofaciodigital Syndrome Viii 48 0.041
419
SPN060 Spondylocarpotarsal Synostosis Syndrome 35 0.041
420
STV004 Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 32 0.041
421
PTT045 Pituitary Hormone Deficiency, Combined, 1 30 0.041
422
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 19 0.041
423
P EPL164 Epilepsy 66 0.041
424
DRM006 Dermatitis 61 0.041
425
P OVR049 Ovarian Disease 55 0.041
426
OST015 Osteochondrodysplasia 53 0.041
427
SXL003 Sexual Disorder 47 0.041
428
CLT003 Colitis 59 0.040
429
P SPS003 Spastic Diplegia 53 0.040
430
CNN005 Connective Tissue Disease 61 0.040
431
MRC001 Marchiafava Bignami Disease 50 0.040
432
OST044 Osteoglophonic Dysplasia 47 0.040
433
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 42 0.040
434
MRT007 Martsolf Syndrome 37 0.040
435
KTL001 Keutel Syndrome 35 0.040
436
c GLP003 Geleophysic Dysplasia 1 26 0.040
437
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 22 0.040
438
ACR101 Acrocraniofacial Dysostosis 17 0.040
439
NSD003 Nasodigitoacoustic Syndrome 17 0.040
440
THR033 Thoracomelic Dysplasia 15 0.040
441
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.040
442
c CRN214 Coronary Heart Disease 5 23 0.040
443
P ESC003 Escobar Syndrome 58 0.040
444
P SCK009 Seckel Syndrome 1 46 0.040
445
MLB001 Mulibrey Nanism 44 0.040
446
TRY002 Troyer Syndrome 42 0.040
447
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.040
448
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 38 0.040
449
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 34 0.040
450
c KNN007 Kenny-Caffey Syndrome, Type 2 25 0.040
451
CXR001 Coxoauricular Syndrome 12 0.040
452
P NJM001 Nijmegen Breakage Syndrome 66 0.040
453
P MRN003 Marinesco-Sjogren Syndrome 35 0.040
454
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 35 0.040
455
c BRT038 Baraitser-Winter Syndrome 1 34 0.040
456
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 30 0.040
457
WLS004 Wilson-Turner Syndrome 30 0.040
458
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27 0.040
459
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 26 0.040
460
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.040
461
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 25 0.039
462
P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 48 0.039
463
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 39 0.039
464
ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 28 0.039
465
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 21 0.039
466
CHR588 Chromosome 8q22.1 Duplication Syndrome 17 0.039
467
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 17 0.039
468
FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 14 0.039
469
PCK002 Pick Disease 67 0.038
470
c HPT003 Hepatitis a 59 0.038
471
ANG054 Angina Pectoris 51 0.038
472
P DMN001 Diamond-Blackfan Anemia 68 0.038
473
c KNN009 Kenny-Caffey Syndrome, Type 1 62 0.038
474
P THL005 Thalassemia 61 0.038
475
ECT006 Ectodermal Dysplasia 47 0.038
476
JHN001 Johanson-Blizzard Syndrome 46 0.038
477
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 40 0.038
478
c ART117 Arthrogryposis, Distal, Type 2b 37 0.038
479
c NNN010 Noonan Syndrome 3 36 0.038
480
MTP028 Metaphyseal Dysplasia, Spahr Type 31 0.038
481
STY001 Satoyoshi Syndrome 26 0.038
482
ALZ030 Alazami Syndrome 22 0.038
483
SPN348 Spondylometaphyseal Dysplasia, Axial 18 0.038
484
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 17 0.038
485
SPN349 Spondylometaphyseal Dysplasia, Type A4 14 0.038
486
P HYP613 Hypophosphatemic Rickets 51 0.038
487
ACR007 Acromegaly 65 0.038
488
SLP005 Sleep Disorder 53 0.038
489
GND003 Gonadal Disease 43 0.038
490
PRD011 Proud Syndrome 42 0.038
491
TRS002 Tarsal-Carpal Coalition Syndrome 35 0.038
492
ACR066 Acrodysostosis 1, with or Without Hormone Resistance 24 0.038
493
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 21 0.038
494
ALC006 Alcoholic Hepatitis 59 0.038
495
P CLL015 Collagen Disease 49 0.038
496
CRN017 Coronary Thrombosis 48 0.038
497
DWN001 Down Syndrome 65 0.037
498
SCH030 Schneckenbecken Dysplasia 31 0.037
499
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 28 0.037
500
c CRN177 Coronary Heart Disease 7 22 0.037
501
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 14 0.037
502
P PRM019 Premature Ovarian Failure 64 0.037
503
CRY002 Cryptorchidism 62 0.037
504
ALS001 Alstrom Syndrome 52 0.037
505
c MCP038 Mucopolysaccharidosis Iva 49 0.037
506
CRB045 Cerebellar Hypoplasia 48 0.037
507
P MWT001 Mowat-Wilson Syndrome 46 0.037
508
P BRC048 Bruck Syndrome 2 45 0.037
509
BLP004 Blepharophimosis 39 0.037
510
RPD002 Rapadilino Syndrome 39 0.037
511
NTV001 Native American Myopathy 37 0.037
512
TRS007 Trismus-Pseudocamptodactyly Syndrome 33 0.037
513
PTC002 Potocki-Lupski Syndrome 31 0.037
514
HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 28 0.037
515
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.037
516
MLR004 Malaria 79 0.037
517
P NRB001 Neuroblastoma 69 0.037
518
LSH001 Leishmaniasis 62 0.037
519
HPT074 Hepatic Adenoma, Somatic 51 0.037
520
URB001 Urbach-Wiethe Disease 48 0.037
521
P ATX030 Ataxia-Telangiectasia 76 0.036
522
P OST005 Osteogenesis Imperfecta 67 0.036
523
c MCP004 Mucopolysaccharidosis Iv 59 0.036
524
SNG010 Single Median Maxillary Central Incisor 53 0.036
525
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.036
526
PSD014 Pseudopseudohypoparathyroidism 50 0.036
527
MND007 Mandibuloacral Dysplasia 49 0.036
528
PTT009 Pituitary Gland Disease 48 0.036
529
P HYP087 Hypotrichosis 45 0.036
530
c MCP012 Mucopolysaccharidosis Ih 42 0.036
531
CHR211 Chromosome 18p Deletion Syndrome 37 0.036
532
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.036
533
WDS002 Woods Syndrome 30 0.036
534
MCD002 Mcdonough Syndrome 25 0.036
535
GRL004 Gorlin-Chaudhry-Moss Syndrome 22 0.036
536
c ACR103 Acrofrontofacionasal Dysostosis 1 18 0.036
537
RHZ008 Rhizomelic Syndrome 16 0.036
538
AND005 Androgen Insensitivity Syndrome, Mild 16 0.036
539
c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 14 0.036
540
VLF001 Velofacioskeletal Syndrome 13 0.036
541
P ATP001 Atopic Dermatitis 62 0.036
542
JCB001 Jacobsen Syndrome 48 0.036
543
CHN054 Chondrodysplasia, Blomstrand Type 40 0.036
544
SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 12 0.036
545
BRN106 Burns 52 0.036
546
HNM002 Hinman Syndrome 25 0.036
547
LWS003 Lowe Syndrome 61 0.035
548
MCR013 Microphthalmia 59 0.035
549
OST024 Osteoporosis-Pseudoglioma Syndrome 54 0.035
550
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.035
551
STF002 Stiff Skin Syndrome 53 0.035
552
HYP596 Hypophosphatasia, Childhood 52 0.035
553
GLL032 Galloway-Mowat Syndrome 50 0.035
554
P TRC091 Trichorhinophalangeal Syndrome, Type Ii 47 0.035
555
NNN026 Noonan Syndrome with Multiple Lentigines 47 0.035
556
c EHL032 Ehlers-Danlos Syndrome, Type Viib 47 0.035
557
RDL002 Radioulnar Synostosis 44 0.035
558
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 0.035
559
PTT041 Pituitary Stalk Interruption Syndrome 39 0.035
560
LRN001 Laurence-Moon Syndrome 38 0.035
561
c MCP015 Mucopolysaccharidosis Type Ix 33 0.035
562
MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 31 0.035
563
WTS001 Watson Syndrome 29 0.035
564
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 27 0.035
565
MSC020 Mosaic Trisomy 8 27 0.035
566
WSM003 Weismann-Netter Syndrome 22 0.035
567
RCH010 Richieri-Costa/guion-Almeida Syndrome 19 0.035
568
MCR274 Microcephalic Primordial Dwarfism, Montreal Type 17 0.035
569
ATK002 Atkin-Flaitz Syndrome 15 0.035
570
FRY005 Fryns Smeets Thiry Syndrome 10 0.035
571
c FNC027 Fanconi Anemia, Complementation Group a 73 0.035
572
HTC002 Hutchinson-Gilford Progeria 62 0.035
573
P MYP006 Myopia 59 0.035
574
P DWL002 Dowling-Degos Disease 1 51 0.035
575
ADR038 Adermatoglyphia 48 0.035
576
P PLG001 Pelger-Huet Anomaly 45 0.035
577
3PS001 3p- Syndrome 38 0.035
578
FNT003 Fountain Syndrome 27 0.035
579
c NNN025 Noonan Syndrome 10 26 0.035
580
c NNN024 Noonan Syndrome 9 25 0.035
581
ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 19 0.035
582
c BRC053 Brachyolmia Type 2 18 0.035
583
ULN024 Ulnar/fibular Ray Defect and Brachydactyly 15 0.035
584
BRN125 Branchiogenic-Deafness Syndrome 15 0.035
585
CRH001 Crohn's Disease 76 0.035
586
P PFF001 Pfeiffer Syndrome 73 0.035
587
c MCL062 Mucolipidosis Ii Alpha/beta 60 0.035
588
RBR001 Roberts Syndrome 59 0.035
589
P SZR006 Seizure Disorder 57 0.035
590
FCL009 Focal Dermal Hypoplasia 54 0.035
591
KNS006 Kniest-Like Dysplasia, Lethal 15 0.035
592
PLM001 Pulmonary Tuberculosis 68 0.035
593
P SLP006 Sleep Apnea 61 0.035
594
VRL011 Viral Infectious Disease 59 0.035
595
P LRY019 Laryngitis 55 0.035
596
PHY002 Physical Disorder 44 0.035
597
GNG013 Gingivitis 60 0.034
598
P ADL010 Adult Respiratory Distress Syndrome 60 0.034
599
MVM001 Movement Disease 54 0.034
600
IMP002 Imperforate Anus 52 0.034
601
P MSC003 Muscular Atrophy 51 0.034
602
c OTP006 Otopalatodigital Syndrome, Type I 36 0.034
603
P THR014 Thrombocytopenia 64 0.034
604
SNS001 Sensorineural Hearing Loss 57 0.034
605
P FTL001 Fetal Alcohol Syndrome 53 0.034
606
P SPN250 Spondyloepimetaphyseal Dysplasia 47 0.034
607
P CLB002 Clubfoot 42 0.034
608
CHR222 Chromosome 1p36 Deletion Syndrome 41 0.034
609
GRN039 Greenberg Skeletal Dysplasia 38 0.034
610
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 24 0.034
611
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 20 0.034
612
ACR096 Acromesomelic Dysplasia, Demirhan Type 17 0.034
613
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 17 0.034
614
2Q3005 2q31.1 Microdeletion Syndrome 16 0.034
615
P RTT002 Rett Syndrome 78 0.034
616
DBT088 Diabetes Insipidus, Nephrogenic 59 0.034
617
c OST122 Osteogenesis Imperfecta, Type Iii 58 0.034
618
ALP008 Alopecia 55 0.034
619
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.034
620
NTH001 Netherton Syndrome 52 0.034
621
P HYP024 Hypoparathyroidism 52 0.034
622
ACR003 Acrodermatitis Enteropathica 48 0.034
623
CTY001 Cat Eye Syndrome 42 0.034
624
WLC001 Wolcott-Rallison Syndrome 40 0.034
625
c OST131 Osteopetrosis, Autosomal Dominant 2 40 0.034
626
PTT047 Pituitary Hormone Deficiency, Combined, 3 31 0.034
627
c NNN021 Noonan Syndrome 8 29 0.034
628
GLD002 Goldberg-Shprintzen Megacolon Syndrome 27 0.034
629
ACR034 Acrogeria, Gottron Type 26 0.034
630
CHR501 Chromosome 17q12 Deletion Syndrome 26 0.034
631
FRS007 Frias Syndrome 25 0.034
632
WLD004 Wildervanck Syndrome 24 0.034
633
PRG123 Progeroid Syndrome, Neonatal 23 0.034
634
MGL033 Megalocornea-Mental Retardation Syndrome 22 0.034
635
MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 17 0.034
636
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 17 0.034
637
GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 16 0.034
638
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 16 0.034
639
CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 16 0.034
640
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 16 0.034
641
CLB011 Coloboma of Macula with Type B Brachydactyly 15 0.034
642
SND006 Sonoda Syndrome 15 0.034
643
OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 15 0.034
644
CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 14 0.034
645
CRN224 Craniofaciofrontodigital Syndrome 14 0.034
646
CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 13 0.034
647
DYS180 Dyschondrosteosis and Nephritis 13 0.034
648
APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 13 0.034
649
VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 13 0.034
650
P RBN010 Robinow-Like Syndrome 11 0.034
651
MRF001 Marfan Syndrome 73 0.034
652
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 26 0.034
653
c HPT073 Hepatitis C Virus 72 0.033
654
PRT036 Peritonitis 62 0.033
655
P CRN037 Craniosynostosis 65 0.033
656
HJD001 Hajdu-Cheney Syndrome 58 0.033
657
AMN001 Amenorrhea 51 0.033
658
MTB004 Metabolic Acidosis 48 0.033
659
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 45 0.033
660
MCR165 Microphthalmia with Limb Anomalies 32 0.033
661
c ORF035 Orofaciodigital Syndrome Iv 26 0.033
662
BRN062 Burn-Mckeown Syndrome 22 0.033
663
FTZ005 Fitzsimmons-Guilbert Syndrome 20 0.033
664
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 18 0.033
665
MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 17 0.033
666
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17 0.033
667
c BRC099 Brachydactyly, Type A4 17 0.033
668
BND017 Bone Dysplasia, Lethal, Holmgren Type 16 0.033
669
OSB001 Osebold-Remondini Syndrome 16 0.033
670
BRC095 Brachydactyly, Mononen Type 14 0.033
671
PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 14 0.033
672
OBS061 Obstructive Sleep Apnea 66 0.032
673
DFC004 Deficiency Anemia 65 0.032
674
VSC003 Visceral Leishmaniasis 55 0.032
675
P PYL005 Pyelonephritis 52 0.032
676
c BRC079 Brachydactyly, Type A2 45 0.032
677
c OTP007 Otopalatodigital Syndrome, Type Ii 37 0.032
678
PLL008 Pallister-Killian Syndrome 31 0.032
679
c OMD001 Omodysplasia 1 25 0.032
680
c EHL057 Ehlers-Danlos Syndrome, Type Iv 60 0.032
681
LGG001 Legg-Calve-Perthes Disease 57 0.032
682
RBS003 Rabson-Mendenhall Syndrome 55 0.032
683
c CNT075 Central Precocious Puberty 53 0.032
684
PTT046 Pituitary Hormone Deficiency, Combined, 2 53 0.032
685
BSC001 Buschke-Ollendorff Syndrome 49 0.032
686
BWN001 Bowen-Conradi Syndrome 45 0.032
687
EST005 Esotropia 41 0.032
688
PRM056 Primrose Syndrome 32 0.032
689
FLP001 Filippi Syndrome 26 0.032
690
GMZ002 Gomez-Lopez-Hernandez Syndrome 23 0.032
691
SPN125 Spondyloenchondrodysplasia 19 0.032
692
LYM123 Lymphedema-Hypoparathyroidism Syndrome 16 0.032
693
OCL070 Oculopalatocerebral Syndrome 16 0.032
694
MSM019 Mesomelic Dysplasia, Savarirayan Type 15 0.032
695
TRP009 Triple X Syndrome 40 0.032
696
SCK003 Sickle Cell Anemia 68 0.032
697
P MST009 Mastocytosis 54 0.032
698
FRB001 Farber Lipogranulomatosis 51 0.032
699
CYS010 Cystinosis 51 0.032
700
P FBR025 Fibrochondrogenesis 48 0.032
701
DPN005 Du Pan Syndrome 45 0.032
702
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 35 0.032
703
P CRB154 Cerebrocostomandibular Syndrome 34 0.032
704
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 34 0.032
705
P RTS001 Ritscher-Schinzel Syndrome 32 0.032
706
CHR382 Chromosome 18q Deletion Syndrome 32 0.032
707
GRC002 Gracile Bone Dysplasia 27 0.032
708
c GLP004 Geleophysic Dysplasia 2 25 0.032
709
GRM003 German Syndrome 24 0.032
710
HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 24 0.032
711
c RNG022 Ring Chromosome 6 24 0.032
712
ACR099 Acrofacial Dysostosis, Catania Type 21 0.032
713
CHN043 Chondrodysplasia with Joint Dislocations, Grapp Type 20 0.032
714
DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 17 0.032
715
CHR190 Chromosome 12p Duplication 16 0.032
716
CHR248 Chromosome 4p Duplication 16 0.032
717
BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 13 0.032
718
c HYP595 Hypertension, Essential 69 0.031
719
CHL068 Cholestasis 58 0.031
720
PLM010 Pulmonary Edema 56 0.031
721
GLC003 Glucose Intolerance 55 0.031
722
P CHL066 Cholangitis 49 0.031
723
TRC008 Trachoma 48 0.031
724
DDN006 Duodenitis 44 0.031
725
DPH019 Diaphanospondylodysostosis 35 0.031
726
RVL002 Ruvalcaba Syndrome 31 0.031
727
SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 19 0.031
728
c MCP037 Mucopolysaccharidosis is 66 0.031
729
INC021 Incontinentia Pigmenti 60 0.031
730
KRN002 Kearns-Sayre Syndrome 59 0.031
731
P STH001 Saethre-Chotzen Syndrome 59 0.031
732
KLN001 Klinefelter's Syndrome 55 0.031
733
P EHL033 Ehlers-Danlos Syndrome, Classic Type 54 0.031
734
MVL001 Mevalonic Aciduria 54 0.031
735
MLT135 Multiple Sulfatase Deficiency 53 0.031
736
HYP077 Hypertrichosis 52 0.031
737
CRN245 Craniosynostosis, Philadelphia Type 50 0.031
738
LYS003 Lysinuric Protein Intolerance 50 0.031
739
CHN055 Chanarin-Dorfman Syndrome 49 0.031
740
MSS001 Masa Syndrome 49 0.031
741
c OST121 Osteogenesis Imperfecta, Type Iv 48 0.031
742
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 46 0.031
743
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 45 0.031
744
ECT078 Ectodermal Dysplasia 2, Clouston Type 45 0.031
745
GLY014 Glycerol Kinase Deficiency 45 0.031
746
VCS001 Vici Syndrome 44 0.031
747
HRT031 Hartnup Disorder 44 0.031
748
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 43 0.031
749
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.031
750
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 42 0.031
751
BDY001 Body Dysmorphic Disorder 41 0.031
752
ARM004 Aromatase Excess Syndrome 37 0.031
753
c STC015 Stickler Syndrome, Type I 36 0.031
754
GLS018 Glass Syndrome 35 0.031
755
c MCP036 Mucopolysaccharidosis Ih/s 35 0.031
756
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 32 0.031
757
GRW016 Growth Hormone Deficiency, Isolated, Type Ib 31 0.031
758
AMY086 Amyotrophy, Hereditary Neuralgic 31 0.031
759
XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 31 0.031
760
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 30 0.031
761
c BRC047 Bruck Syndrome 1 29 0.031
762
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 29 0.031
763
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.031
764
GRD005 Geroderma Osteodysplasticum 25 0.031
765
c CNG383 Congenital Disorder of Glycosylation, Type Iik 25 0.031
766
c OST110 Osteogenesis Imperfecta, Type Xv 25 0.031
767
MND023 Mend Syndrome 24 0.031
768
c EPP009 Epiphyseal Dysplasia, Multiple, 6 24 0.031
769
P ATM080 Autoimmune Disease, Multisystem, Infantile-Onset 22 0.031
770
CRN049 Craniolenticulosutural Dysplasia 21 0.031
771
NVR001 Nievergelt Syndrome 21 0.031
772
c WLL025 Weill-Marchesani Syndrome 3, Recessive 21 0.031
773
BRN123 Branchial Arch Syndrome, X-Linked 21 0.031
774
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 19 0.031
775
MSL005 Mseleni Joint Disease 19 0.031
776
ABD008 Abidi X-Linked Mental Retardation Syndrome 18 0.031
777
KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 18 0.031
778
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 18 0.031
779
c TRC100 Trichothiodystrophy 3, Photosensitive 17 0.031
780
c MNT197 Mental Retardation, X-Linked, Syndromic 9 17 0.031
781
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 17 0.031
782
BNG086 Bangstad Syndrome 16 0.031
783
P TRC099 Trichothiodystrophy 2, Photosensitive 16 0.031
784
NRF010 Neurofaciodigitorenal Syndrome 16 0.031
785
SPS192 Spastic Paraparesis and Deafness 15 0.031
786
HYP681 Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 14 0.031
787
DFN312 Deafness, Congenital, with Vitiligo and Achalasia 14 0.031
788
CRD215 Cardioskeletal Syndrome, Kuwaiti Type 14 0.031
789
ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 14 0.031
790
CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 14 0.031
791
MDL024 Madelung Deformity 13 0.031
792
P MLT019 Multiple Myeloma 80 0.030
793
P NRV007 Nervous System Disease 71 0.030
794
c CNT035 Central Nervous System Disease 59 0.030
795
BRN002 Bronchiolitis 56 0.030
796
P TRM003 Tremor 54 0.030
797
P END033 Endocarditis 52 0.030
798
MYL001 Myelitis 48 0.030
799
MLT006 Multidrug-Resistant Tuberculosis 46 0.030
800
P TRC086 Trichohepatoenteric Syndrome 1 46 0.030
801
c ACT042 Acute Pyelonephritis 46 0.030
802
CHR008 Choroiditis 43 0.030
803
SPC003 Specific Developmental Disorder 40 0.030
804
ANG049 Angioedema Induced by Ace Inhibitors 35 0.030
805
GLB003 Globe Disease 35 0.030
806
c MCP003 Mucopolysaccharidosis Vii 63 0.030
807
P VLC001 Velocardiofacial Syndrome 62 0.030
808
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.030
809
P ART061 Arthrogryposis, Distal, Type 2a 52 0.030
810
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 45 0.030
811
ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45 0.030
812
BRN003 Branchiooculofacial Syndrome 40 0.030
813
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.030
814
c ATS082 Autosomal Dominant Robinow Syndrome 35 0.030
815
LTR009 Lateral Meningocele Syndrome 31 0.030
816
FTL007 Fetal Hydantoin Syndrome 30 0.030
817
c RBN017 Robinow Syndrome, Autosomal Dominant 2 29 0.030
818
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27 0.030
819
c OST118 Osteogenesis Imperfecta, Type Viii 26 0.030
820
SDM002 Sed, Maroteaux Type 26 0.030
821
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 26 0.030
822
PRS051 Parastremmatic Dwarfism 25 0.030
823
49X002 49,xxxxy Syndrome 24 0.030
824
FRN022 Frontofacionasal Dysplasia 24 0.030
825
DYS045 Dysosteosclerosis 22 0.030
826
CHR266 Chromosome 8p23.1 Deletion 19 0.030
827
SPN113 Spinocerebellar Ataxia with Dysmorphism 18 0.030
828
49X001 49, Xxxxx 17 0.030
829
ACR107 Acrofacial Dysostosis, Palagonia Type 17 0.030
830
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 15 0.030
831
HRS002 Hersh Podruch Weisskopk Syndrome 15 0.030
832
CHR416 Chromosome 17q Deletion 14 0.030
833
c SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 12 0.030
834
CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 10 0.030
835
P MDL005 Medulloblastoma 77 0.029
836
LVR012 Liver Cirrhosis 67 0.029
837
CHG001 Chagas Disease 62 0.029
838
PTN001 Patent Foramen Ovale 54 0.029
839
INT007 Intermediate Coronary Syndrome 52 0.029
840
MYC002 Mycobacterium Avium Complex Disease 51 0.029
841
PRT038 Protein-Energy Malnutrition 49 0.029
842
OTS002 Otospondylomegaepiphyseal Dysplasia 48 0.029
843
CHR005 Chorioamnionitis 48 0.029
844
c HMG001 Hemoglobin C Disease 47 0.029
845
P PLN008 Peeling Skin Syndrome 47 0.029
846
SPC010 Speech and Communication Disorders 46 0.029
847
PRS036 Parasitic Protozoa Infectious Disease 45 0.029
848
c DGT005 Digital Arthropathy-Brachydactyly, Familial 35 0.029
849
P SMT009 Smith-Mccort Dysplasia 33 0.029
850
YNS002 Yunis-Varon Syndrome 32 0.029
851
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 26 0.029
852
c DSB005 Desbuquois Dysplasia 2 23 0.029
853
c SMT018 Smith-Mccort Dysplasia 2 19 0.029
854
CNT099 Contractural Arachnodactyly, Congenital 41 0.029
855
MLT021 Multiple System Atrophy 71 0.029
856
P BRD002 Bardet-Biedl Syndrome 62 0.029
857
P DNT015 Dent Disease 61 0.029
858
P MYM002 Moyamoya Disease 60 0.029
859
P UVT001 Uveitis 59 0.029
860
P HRS035 Hirschsprung Disease 1 59 0.029
861
P HYP040 Hypospadias 57 0.029
862
CLF027 Cleft Palate, Isolated 56 0.029
863
P KRT007 Keratoconus 51 0.029
864
P OST009 Osteochondritis Dissecans 50 0.029
865
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 46 0.029
866
P FNC043 Fanconi Anemia, Complementation Group E 45 0.029
867
c MCL046 Mucolipidosis Iii Alpha/beta 44 0.029
868
HYP085 Hypothalamic Disease 44 0.029
869
c CNG124 Congenital Rubella 40 0.029
870
HYP068 Hyperostosis 40 0.029
871
GNT031 Genitopatellar Syndrome 39 0.029
872
c LTH007 Lethal Congenital Contracture Syndrome 1 38 0.029
873
HYP064 Hypogonadotropism 38 0.029
874
P GLP001 Geleophysic Dysplasia 38 0.029
875
c DMN023 Diamond-Blackfan Anemia 1 38 0.029
876
CMB021 Combined Pituitary Hormone Deficiency 36 0.029
877
c NNN012 Noonan Syndrome 5 35 0.029
878
CHR492 Chromosome 13q14 Deletion Syndrome 34 0.029
879
c NNN011 Noonan Syndrome 4 32 0.029
880
c EHL027 Ehlers-Danlos Syndrome, Type Viic 32 0.029
881
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.029
882
P LNR015 Linear Skin Defects with Multiple Congenital Anomalies 28 0.029
883
OCL033 Oculocerebral Syndrome with Hypopigmentation 24 0.029
884
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 23 0.029
885
HMF010 Hemifacial Microsomia with Radial Defects 21 0.029
886
CHR209 Chromosome 17p Duplication 20 0.029
887
DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 20 0.029
888
c MNT212 Mental Retardation, Autosomal Dominant 26 19 0.029
889
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 19 0.029
890
AXL004 Axial Mesodermal Dysplasia Spectrum 19 0.029
891
c BRC060 Brachydactyly, Type E2 19 0.029
892
MYP111 Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 16 0.029
893
SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 16 0.029
894
CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 16 0.029
895
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 15 0.029
896
CHR252 Chromosome 5p Duplication 15 0.029
897
DST059 Distal Trisomy 17q 15 0.029
898
PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 15 0.029
899
P PRG124 Progeroid Syndrome, Congenital, Petty Type 15 0.029
900
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.029
901
6Q1001 6q16 Deletion Syndrome 14 0.029
902
DST045 Distal Trisomy 6p 13 0.029
903
NND003 Non-Distal Trisomy 10q 13 0.029
904
HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 12 0.029
905
16P003 16p13.11 Microdeletion Syndrome 12 0.029
906
PLY088 Polyvalvular Heart Disease Syndrome 12 0.029
907
CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 12 0.029
908
CRN260 Craniodigital Syndrome-Intellectual Disability Syndrome 12 0.029
909
HRR003 Herrmann Opitz Craniosynostosis 12 0.029
910
AST010 Astley-Kendall Syndrome 12 0.029
911
15Q003 15q14 Microdeletion Syndrome 12 0.029
912
INT295 Intellectual Disability-Polydactyly-Uncombable Hair Syndrome 11 0.029
913
DST038 Distal Monosomy 7q36 11 0.029
914
INT287 Intellectual Disability-Hypotonia-Skin Hyperpigmentation Syndrome 10 0.029
915
HYD021 Hydrocephalus Obesity Hypogonadism 10 0.029
916
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.029
917
SHL007 Shoulder and Girdle Defects-Familial Intellectual Disability Syndrome 10 0.029
918
MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 10 0.029
919
SPN146 Spondylometaphyseal Dysplasia East-African Type 6 0.029
920
P CWD006 Cowden Syndrome 1 68 0.029
921
ARM001 Aromatase Deficiency 57 0.029
922
P WVR001 Weaver Syndrome 51 0.029
923
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32 0.029
924
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.029
925
CTN007 Cutaneous Leishmaniasis 62 0.028
926
GST045 Gastroenteritis 60 0.028
927
QFV001 Q Fever 60 0.028
928
P OCL013 Oculodentodigital Dysplasia 59 0.028
929
P CNG015 Congenital Diaphragmatic Hernia 58 0.028
930
CRT049 Critical Limb Ischemia 51 0.028
931
HND002 Hand, Foot and Mouth Disease 48 0.028
932
MRS004 Marshall-Smith Syndrome 41 0.028
933
NSY001 N Syndrome 39 0.028
934
RFM001 Roifman Syndrome 26 0.028
935
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 10 0.028
936
FBR012 Fabry Disease 69 0.027
937
LPR018 Leprechaunism 59 0.027
938
THR009 Thrombocytopenia-Absent Radius Syndrome 54 0.027
939
TWN003 Townes-Brocks Syndrome 53 0.027
940
VGT001 Vogt-Koyanagi-Harada Disease 52 0.027
941
ACR008 Acrocallosal Syndrome 51 0.027
942
LPD009 Lipid Storage Disease 49 0.027
943
ICH054 Ichthyosis, X-Linked 48 0.027
944
CRN248 Craniofrontonasal Dysplasia 45 0.027
945
P EXS004 Exostoses, Multiple, Type 1 44 0.027
946
RDD003 Riddle Syndrome 43 0.027
947
PKL001 Poikiloderma with Neutropenia 40 0.027
948
HYL004 Hyaline Fibromatosis Syndrome 39 0.027
949
P CHR084 Chromosomal Disease 37 0.027
950
MYT015 Myotonia Congenita, Atypical, Acetazolamide-Responsive 36 0.027
951
c MCR263 Microphthalmia, Syndromic 1 34 0.027
952
FHR001 Fuhrmann Syndrome 34 0.027
953
MTR028 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 33 0.027
954
WRN004 Wrinkly Skin Syndrome 32 0.027
955
CTL005 Catel-Manzke Syndrome 31 0.027
956
CLC057 Cole-Carpenter Syndrome 30 0.027
957
c NNN013 Noonan Syndrome 6 30 0.027
958
c NNN020 Noonan Syndrome 7 29 0.027
959
MHR002 Mohr Syndrome 28 0.027
960
c EXS005 Exostoses, Multiple, Type 2 28 0.027
961
P TRC101 Trichothiodystrophy 4, Nonphotosensitive 28 0.027
962
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 28 0.027
963
TRD003 Taurodontism 27 0.027
964
c MCP023 Mucopolysaccharidosis Type Ivb 27 0.027
965
c PRC047 Precocious Puberty, Central, 1 26 0.027
966
CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 26 0.027
967
PRP090 Peripheral Dysostosis 24 0.027
968
MSM016 Mesomelic Dysplasia, Kantaputra Type 23 0.027
969
CRB147 Cerebellofaciodental Syndrome 23 0.027
970
FMR016 Femur-Fibula-Ulna Syndrome 22 0.027
971
c BRT039 Baraitser-Winter Syndrome 2 21 0.027
972
c ATS004 Autosomal Dominant Microcephaly 20 0.027
973
P FNC052 Fanconi Anemia, Complementation Group T 19 0.027
974
ART037 Arthrogryposis and Ectodermal Dysplasia 19 0.027
975
ULN005 Ulna and Fibula, Hypoplasia of 17 0.027
976
PLV015 Pelvis-Shoulder Dysplasia 17 0.027
977
EPL162 Epilepsy-Telangiectasia 16 0.027
978
BLL017 Bullous Dystrophy, Hereditary Macular Type 16 0.027
979
MCR307 Microspherophakia-Metaphyseal Dysplasia 15 0.027
980
P ALP068 Alopecia-Intellectual Disability Syndrome 15 0.027
981
THM021 Thumb Deformity and Alopecia 15 0.027
982
P MNS011 Monosomy 9q22.3 14 0.027
983
RDL030 Radial-Renal Syndrome 14 0.027
984
HYP689 Hypomelia with Mullerian Duct Anomalies 14 0.027
985
THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 11 0.027
986
XLN209 X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome 9 0.027
987
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.027
988
P ALG002 Alagille Syndrome 72 0.027
989
P LPR003 Leprosy 68 0.027
990
P GRV001 Graves' Disease 61 0.027
991
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.027
992
RTN017 Retinal Detachment 57 0.027
993
ERY003 Erythema Multiforme 57 0.027
994
SPT005 Spotted Fever 56 0.027
995
GTR002 Goiter 54 0.027
996
PLS006 Plasmodium Vivax Malaria 53 0.027
997
P DGR001 Digeorge Syndrome 52 0.027
998
c INF067 Inflammatory Bowel Disease 10 51 0.027
999
P KLP003 Klippel-Feil Syndrome 46 0.027
1000
ULN003 Ulnar-Mammary Syndrome 45 0.027
1001
CNV002 Conversion Disorder 42 0.027
1002
P SYN012 Synpolydactyly 38 0.027
1003
MLN014 Melnick-Needles Syndrome 35 0.027
1004
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 34 0.027
1005
c OST147 Osteoarthritis 1 33 0.027
1006
YNG002 Young Syndrome 26 0.027
1007
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 19 0.027
1008
RNL039 Renal Dysplasia-Limb Defects Syndrome 19 0.027
1009
P PTT050 Pituitary Adenoma, Growth Hormone-Secreting 48 0.026
1010
FML063 Familial Glucocorticoid Deficiency 37 0.026
1011
LJN003 Lujan-Fryns Syndrome 31 0.026
1012
P PHC003 Pheochromocytoma 71 0.026
1013
KRT004 Keratitis 70 0.026
1014
MLD001 Melioidosis 67 0.026
1015
OTT002 Otitis Media 66 0.026
1016
LPT001 Leptospirosis 63 0.026
1017
TYP007 Typhoid Fever 61 0.026
1018
P ASP006 Aspergillosis 60 0.026
1019
P SPN052 Spondyloarthropathy 60 0.026
1020
P VNT002 Ventricular Septal Defect 59 0.026
1021
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.026
1022
CHL123 Chlamydia 59 0.026
1023
P NRM001 Neuromyelitis Optica 59 0.026
1024
BRN012 Bronchiolitis Obliterans 58 0.026
1025
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.026
1026
SCR008 Scrub Typhus 54 0.026
1027
PLS007 Plasmodium Falciparum Malaria 54 0.026
1028
c HPT007 Hepatitis E 54 0.026
1029
ECH003 Echinococcosis 53 0.026
1030
TRY001 Trypanosomiasis 52 0.026
1031
LPR001 Lepromatous Leprosy 49 0.026
1032
NPH003 Nephrocalcinosis 46 0.026
1033
RFT001 Rift Valley Fever 43 0.026
1034
CLV009 Clove Syndrome, Somatic 42 0.026
1035
ATN011 Autoinflammation with Infantile Enterocolitis 41 0.026
1036
RNS001 Raine Syndrome 39 0.026
1037
PTC001 Potocki-Shaffer Syndrome