Search results for congenital hip dislocation

385 hits were found for congenital hip dislocation

# Family MCID Name MIFTS Score
1
BKS003 Beukes Hip Dysplasia 32 6.495
2
DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 19 3.865
3
HKF001 Ho Kaufman Mcalister Syndrome 6 2.220
4
OST012 Osteoarthritis 88 0.379
5
P ART022 Arthritis 77 0.375
6
P ART023 Arthropathy 68 0.352
7
BNF002 Bone Fracture 56 0.316
8
JNT002 Joint Disorders 60 0.313
9
RHM027 Rheumatic Disease 62 0.277
10
P CLL015 Collagen Disease 53 0.275
11
DVL012 Developmental Dysplasia of the Hip 1 27 0.239
12
OST062 Osteoarthritis with Mild Chondrodysplasia 43 0.234
13
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.220
14
CRB009 Cerebritis 41 0.218
15
CRB037 Cerebral Palsy 70 0.199
16
P HRT032 Heart Disease 80 0.188
17
HPS001 Hip Subluxation 17 0.174
18
SLP010 Slipped Capital Femoral Epiphysis 37 0.173
19
THR024 Thrombosis 61 0.172
20
SPT004 Septic Arthritis 60 0.171
21
AGN016 Aging 65 0.168
22
EPP010 Epiphysiolysis of the Hip 20 0.166
23
SPS057 Spasticity 41 0.158
24
c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42 0.155
25
P CTR002 Cataract 60 0.153
26
PNG002 Pain Agnosia 41 0.152
27
P NRP001 Neuropathy 63 0.150
28
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 55 0.148
29
P LRS001 Larsen Syndrome 47 0.145
30
OST003 Osteonecrosis 63 0.141
31
SYN007 Synovitis 61 0.140
32
P SCL018 Scoliosis 56 0.137
33
P RHM011 Rheumatoid Arthritis 91 0.134
34
c BLD140 Blood Group, I System 37 0.132
35
P ANR048 Aniridia 1 68 0.130
36
P MSC005 Muscular Dystrophy 66 0.127
37
STL007 Steel Syndrome 27 0.121
38
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.121
39
c PNS012 Paine Syndrome 52 0.115
40
MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 36 0.114
41
PGM001 Pigmented Villonodular Synovitis 54 0.112
42
PRN038 Prune Belly Syndrome 55 0.111
43
ANR038 Anorexia Nervosa 1 21 0.111
44
BLD137 Blood Group--Ahonen 17 0.111
45
VLL003 Villonodular Synovitis 45 0.111
46
ANK001 Ankylosis 56 0.110
47
SPS003 Spastic Diplegia 55 0.110
48
PLM033 Pulmonary Embolism 62 0.110
49
SYN031 Synovial Chondromatosis 47 0.108
50
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.107
51
c SPN225 Spondyloarthropathy 1 71 0.106
52
P CRV039 Cervicitis 49 0.106
53
RTN023 Retinitis 52 0.104
54
SKL017 Skeletal Dysplasias 48 0.101
55
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.101
56
SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31 0.100
57
SPN051 Spondylitis 55 0.099
58
LGG001 Legg-Calve-Perthes Disease 59 0.098
59
P KBK002 Kabuki Syndrome 1 62 0.097
60
SPS007 Spastic Cerebral Palsy 46 0.097
61
CLB002 Clubfoot 46 0.096
62
P OST028 Osteochondroma 51 0.094
63
JNT001 Joint Laxity, Familial 24 0.093
64
P CTS001 Cutis Laxa 62 0.093
65
c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 44 0.090
66
DWR001 Dwarfism 48 0.090
67
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.089
68
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.089
69
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.089
70
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.089
71
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.089
72
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.089
73
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.089
74
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.089
75
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.089
76
P HPT021 Hepatitis 75 0.089
77
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28 0.089
78
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.087
79
c DSB006 Desbuquois Dysplasia 1 39 0.087
80
P MLT007 Multiple Epiphyseal Dysplasia 57 0.087
81
NRL016 Neural Tube Defects 79 0.086
82
P ULL002 Ullrich Congenital Muscular Dystrophy 1 52 0.085
83
P THR117 Three M Syndrome 1 52 0.085
84
P MSC003 Muscular Atrophy 55 0.084
85
ALR002 Al-Raqad Syndrome 30 0.084
86
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34 0.083
87
ART103 Arthrogryposis, Mental Retardation, and Seizures 26 0.083
88
CNT105 Central Core Disease of Muscle 57 0.082
89
c MCP004 Mucopolysaccharidosis Iv 60 0.082
90
P ENC018 Encephalopathy 58 0.082
91
P THY032 Thyroiditis 56 0.081
92
KNS001 Kniest Dysplasia 53 0.081
93
MYL020 Myelomeningocele 54 0.081
94
OST015 Osteochondrodysplasia 54 0.081
95
ANX010 Anxiety 72 0.080
96
LWC002 Lowe Oculocerebrorenal Syndrome 62 0.080
97
DST005 Diastrophic Dysplasia 54 0.079
98
GNT031 Genitopatellar Syndrome 43 0.078
99
SMT004 Smith-Lemli-Opitz Syndrome 70 0.078
100
DYG001 Dyggve-Melchior-Clausen Disease 31 0.078
101
c JVN010 Juvenile Rheumatoid Arthritis 71 0.078
102
CDS002 Codas Syndrome 32 0.078
103
P MYS005 Myositis 63 0.078
104
P TRC086 Trichohepatoenteric Syndrome 1 54 0.078
105
ANR040 Aneurysm 61 0.077
106
P ICH004 Ichthyosis 54 0.077
107
QDR001 Quadriplegia 54 0.076
108
CMP005 Campomelic Dysplasia 58 0.076
109
SCH068 Schwartz-Jampel Syndrome, Type 1 54 0.076
110
CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21 0.076
111
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 36 0.076
112
c ART146 Arthrogryposis, Distal, Type 9 41 0.076
113
MSM019 Mesomelic Dysplasia, Savarirayan Type 20 0.076
114
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.075
115
TLP001 Talipes Equinovarus 38 0.075
116
P HYP265 Hypotonia 40 0.075
117
P MYP006 Myopia 56 0.075
118
ANH002 Anhidrosis 45 0.075
119
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.074
120
P HYD006 Hydrocephalus 68 0.074
121
MCR165 Microphthalmia with Limb Anomalies 45 0.074
122
P LKM002 Leukemia 75 0.074
123
P MCR010 Microcephaly 57 0.074
124
CNG125 Congenital Short Femur 15 0.074
125
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 0.073
126
P MYC084 Mycobacterium Tuberculosis 1 69 0.073
127
P CRN015 Cornelia De Lange Syndrome 65 0.073
128
ACH004 Achondroplasia 67 0.073
129
SPN008 Spondyloepiphyseal Dysplasia Congenita 60 0.073
130
ALP046 Alport Syndrome, X-Linked 74 0.072
131
DXT001 Dextrocardia 55 0.072
132
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22 0.071
133
NLP001 Nail-Patella Syndrome 56 0.071
134
CXR001 Coxoauricular Syndrome 16 0.071
135
c CNT035 Central Nervous System Disease 65 0.071
136
SPN186 Spinal Cord Injury 67 0.071
137
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.070
138
P HRD001 Hereditary Multiple Exostoses 45 0.070
139
FMR013 Femoral Agenesis/hypoplasia 15 0.070
140
P BRC006 Brachydactyly 57 0.069
141
WCK001 Wieacker-Wolff Syndrome 33 0.069
142
c OMD001 Omodysplasia 1 29 0.069
143
MYS001 Myositis Ossificans 33 0.069
144
P THR014 Thrombocytopenia 65 0.069
145
YNS002 Yunis-Varon Syndrome 48 0.069
146
EMN001 Emanuel Syndrome 37 0.069
147
CNG065 Congenital Contractures 27 0.069
148
MLN014 Melnick-Needles Syndrome 37 0.069
149
OCL034 Oculocerebrocutaneous Syndrome 33 0.068
150
NRM005 Neuromuscular Disease 60 0.068
151
CTY001 Cat Eye Syndrome 49 0.068
152
c ART144 Arthrogryposis, Distal, Type 1a 46 0.067
153
PSD012 Pseudoachondroplasia 52 0.067
154
BRT054 Brittle Bone Disorder 67 0.067
155
CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 16 0.067
156
WRN004 Wrinkly Skin Syndrome 35 0.067
157
ACR102 Acrorenal-Mandibular Syndrome 28 0.067
158
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23 0.067
159
P RTH001 Rothmund-Thomson Syndrome 57 0.067
160
CSN001 Cousin Syndrome 28 0.066
161
P CMP008 Compartment Syndrome 48 0.066
162
P KLN006 Koolen-De Vries Syndrome 38 0.066
163
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51 0.066
164
c ATL011 Atelosteogenesis, Type I 37 0.066
165
c EPP017 Epiphyseal Dysplasia, Multiple, 1 31 0.066
166
c ART147 Arthrogryposis, Distal, Type 7 35 0.066
167
P SYR001 Syringomyelia 49 0.065
168
c OTP006 Otopalatodigital Syndrome, Type I 38 0.065
169
c ATL012 Atelosteogenesis, Type Iii 29 0.065
170
P EPL164 Epilepsy 70 0.065
171
OST017 Osteomyelitis 64 0.065
172
CNN011 Cenani-Lenz Syndactyly Syndrome 45 0.065
173
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.064
174
P HYP097 Hyperekplexia 57 0.064
175
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.064
176
c ATS082 Autosomal Dominant Robinow Syndrome 43 0.064
177
RHZ008 Rhizomelic Syndrome 20 0.064
178
ARC009 Auriculoosteodysplasia 17 0.064
179
P HMP007 Hemophilia 61 0.064
180
PLM031 Poliomyelitis 64 0.064
181
MLT163 Multiple Pterygium Syndrome, Escobar Variant 53 0.063
182
c FRN048 Frontometaphyseal Dysplasia 2 29 0.063
183
P INF049 Infantile Myofibromatosis 49 0.063
184
c MCL062 Mucolipidosis Ii Alpha/beta 58 0.063
185
P TRT019 Torticollis 45 0.063
186
FTD001 Foot Drop 35 0.062
187
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.062
188
BRN071 Brain Injury 54 0.062
189
ART001 Arterial Tortuosity Syndrome 53 0.062
190
DMN002 Dementia 68 0.062
191
HMH004 Hemihyperplasia, Isolated 43 0.062
192
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.062
193
c LRS002 Larsen-Like Syndrome 42 0.061
194
P STC001 Stickler Syndrome 56 0.061
195
P EHL001 Ehlers-Danlos Syndrome 61 0.061
196
END072 Endotheliitis 46 0.061
197
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42 0.060
198
P PSD086 Pseudoarthrosis 41 0.060
199
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37 0.060
200
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50 0.060
201
LRW001 Leri-Weill Dyschondrosteosis 41 0.059
202
PRP016 Paraplegia 53 0.059
203
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18 0.059
204
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31 0.059
205
P PRD006 Prader-Willi Syndrome 66 0.059
206
SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29 0.059
207
PLL001 Pallister-Hall Syndrome 59 0.058
208
PLV015 Pelvis-Shoulder Dysplasia 21 0.058
209
P OST009 Osteochondritis Dissecans 58 0.058
210
c ART120 Arthrogryposis, Distal, Type 3 47 0.058
211
P MRN003 Marinesco-Sjogren Syndrome 38 0.058
212
ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33 0.058
213
WLF002 Wolf-Hirschhorn Syndrome 54 0.058
214
OSC001 Oeis Complex 31 0.057
215
c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20 0.057
216
MXD001 Mixed Cerebral Palsy 20 0.057
217
c ART061 Arthrogryposis, Distal, Type 2a 45 0.057
218
SPS004 Spastic Quadriplegia 34 0.057
219
MRF001 Marfan Syndrome 75 0.057
220
MSC021 Mosaic Trisomy 9 31 0.057
221
P CFF008 Coffin-Siris Syndrome 1 59 0.056
222
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24 0.056
223
SPN027 Spinal Stenosis 60 0.056
224
c MYT021 Myotonic Dystrophy 1 68 0.056
225
P TRT010 Teratoma 53 0.056
226
AYM001 Ayme-Gripp Syndrome 40 0.056
227
NRN002 Neuronitis 43 0.056
228
c CRB100 Cerebrooculofacioskeletal Syndrome 4 26 0.056
229
EXS001 Exostosis 46 0.056
230
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 24 0.055
231
49X002 49,xxxxy Syndrome 33 0.055
232
URG005 Uruguay Faciocardiomusculoskeletal Syndrome 22 0.055
233
TMT003 Temtamy Syndrome 29 0.054
234
MCK005 Mckusick-Kaufman Syndrome 55 0.054
235
HMR002 Hemarthrosis 51 0.054
236
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24 0.054
237
BMR001 Boomerang Dysplasia 39 0.053
238
48X002 48,xxxy Syndrome 19 0.053
239
P PRT008 Proteus Syndrome 67 0.053
240
SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 32 0.053
241
ICH054 Ichthyosis, X-Linked 59 0.053
242
P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56 0.053
243
OCC006 Occipital Horn Syndrome 49 0.053
244
CHR225 Chromosome 1q21.1 Duplication Syndrome 25 0.053
245
ART016 Aortic Aneurysm 70 0.053
246
P STS008 Sotos Syndrome 1 56 0.053
247
P INF038 Influenza 77 0.053
248
CDQ001 Cauda Equina Syndrome 41 0.052
249
FCL009 Focal Dermal Hypoplasia 57 0.052
250
RTN017 Retinal Detachment 59 0.052
251
HST009 Histiocytoma 51 0.052
252
P CNJ013 Conjunctivitis 67 0.052
253
GLY094 Glycine Encephalopathy with Normal Serum Glycine 33 0.052
254
STR020 Strabismus 55 0.052
255
SCH016 Schimke Immunoosseous Dysplasia 47 0.051
256
P SCK004 Seckel Syndrome 55 0.051
257
PLG004 Plagiocephaly 42 0.051
258
FBR003 Fibrous Histiocytoma 46 0.051
259
FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48 0.051
260
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27 0.051
261
MSC157 Muscular Dystrophy, Duchenne Type 74 0.051
262
c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54 0.050
263
c RBN009 Robinow Syndrome, Autosomal Recessive 42 0.050
264
EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 21 0.050
265
c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43 0.050
266
P CRB154 Cerebrocostomandibular Syndrome 35 0.050
267
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.050
268
P UVT001 Uveitis 61 0.050
269
CLC006 Calcinosis 51 0.049
270
c EPP014 Epiphyseal Dysplasia, Multiple, 4 28 0.049
271
P OCL013 Oculodentodigital Dysplasia 57 0.049
272
HYP231 Hypothalamic Hamartomas 49 0.049
273
DYS073 Dysphagia 47 0.049
274
PLL008 Pallister-Killian Syndrome 41 0.049
275
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.049
276
DBR002 De Barsy Syndrome 38 0.049
277
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30 0.049
278
CHR379 Chromosome 15q26-Qter Deletion Syndrome 25 0.049
279
FRZ001 Frozen Shoulder 48 0.049
280
P FNC027 Fanconi Anemia, Complementation Group a 78 0.049
281
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53 0.049
282
ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32 0.049
283
P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 23 0.049
284
GRW007 Growth Hormone Deficiency 52 0.048
285
MRB003 Morbid Obesity 61 0.048
286
P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 15 0.048
287
ACR058 Acrofacial Dysostosis 1, Nager Type 46 0.048
288
PST049 Postaxial Acrofacial Dysostosis 44 0.048
289
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.048
290
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32 0.048
291
c ART104 Arthrogryposis, Distal, Type 5d 28 0.048
292
CHR524 Chromosome 16p13.3 Duplication Syndrome 26 0.048
293
P MNN007 Meningocele 38 0.048
294
VSC011 Vasculitis 66 0.047
295
SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 20 0.047
296
c OST131 Osteopetrosis, Autosomal Dominant 2 43 0.047
297
48X003 48,xxyy Syndrome 33 0.047
298
c HYP757 Hyperekplexia, Hereditary 1 26 0.047
299
VCT008 Vacterl with Hydrocephalus 20 0.047
300
CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 12 0.047
301
PYL017 Pyle Disease 49 0.047
302
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.047
303
JCB001 Jacobsen Syndrome 50 0.046
304
ISC016 Ischiocoxopodopatellar Syndrome 30 0.046
305
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 51 0.045
306
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22 0.045
307
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36 0.045
308
c BRT028 Brittle Cornea Syndrome 1 31 0.045
309
c CTS041 Cutis Laxa, Autosomal Dominant 3 25 0.045
310
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21 0.045
311
MSM018 Mesomelic Limb Shortening and Bowing 19 0.045
312
TND005 Tendinitis 42 0.045
313
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 29 0.045
314
ALB001 Albright's Hereditary Osteodystrophy 55 0.044
315
VTM027 Vitamin D-Dependent Rickets, Type 2a 46 0.044
316
MLR003 Melorheostosis 43 0.044
317
c PNT018 Pontocerebellar Hypoplasia, Type 1b 38 0.044
318
CHN011 Chondromalacia 36 0.044
319
NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23 0.044
320
VRH001 Verheij Syndrome 21 0.044
321
8PN001 8p Inverted Duplication/deletion Syndrome 18 0.044
322
20Q001 20q13.33 Microdeletion Syndrome 16 0.044
323
CLL022 Collins Pope Syndrome 3 0.044
324
P CLC063 Celiac Disease 1 65 0.044
325
THR004 Thrombocytosis 55 0.044
326
NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 13 0.044
327
P DST002 Distal Arthrogryposis 57 0.043
328
P CRN037 Craniosynostosis 68 0.043
329
P MYL006 Myeloid Leukemia 69 0.042
330
c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35 0.042
331
FBL014 Fibular Hemimelia 17 0.042
332
CMP010 Complex Regional Pain Syndrome 58 0.041
333
PRP090 Peripheral Dysostosis 24 0.041
334
AST006 Astigmatism 48 0.041
335
SCR024 Sacrococcygeal Teratoma 32 0.041
336
CRH001 Crohn's Disease 80 0.041
337
c CNG198 Congenital Disorder of Glycosylation, Type Il 28 0.041
338
3MC003 3mc Syndrome 42 0.041
339
c HMC039 Hemochromatosis, Type 1 71 0.040
340
CRB011 Cerebrotendinous Xanthomatosis 64 0.040
341
P HLL001 Hallermann-Streiff Syndrome 58 0.040
342
MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49 0.040
343
IDP070 Idiopathic Scoliosis 42 0.040
344
c GRV008 Graves Disease 1 52 0.039
345
c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 17 0.039
346
OLG003 Oligohydramnios 41 0.039
347
SKL001 Skeletal Tuberculosis 37 0.039
348
FBL002 Fibular Hypoplasia and Complex Brachydactyly 40 0.039
349
c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25 0.039
350
AMS004 Amastia, Bilateral, with Ureteral Triplication and Dysmorphism 12 0.039
351
LYM027 Lymphopenia 56 0.038
352
ARS001 Aarskog-Scott Syndrome 55 0.038
353
MYC033 Myoclonus 40 0.038
354
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.038
355
GPS001 Gapo Syndrome 36 0.038
356
MCP033 Mucopolysaccharidoses 36 0.037
357
WVR001 Weaver Syndrome 61 0.037
358
c SPN395 Spinal Muscular Atrophy, Type Ii 45 0.037
359
CLC011 Cloacal Exstrophy 38 0.037
360
LMB013 Limb Reduction Defect 16 0.037
361
P MPL001 Maple Syrup Urine Disease 66 0.037
362
MRS004 Marshall-Smith Syndrome 43 0.037
363
ERM002 Ear Malformation 41 0.037
364
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12 0.037
365
P SMP003 Simpson-Golabi-Behmel Syndrome 54 0.036
366
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28 0.036
367
c RNG020 Ring Chromosome 4 33 0.035
368
GRD005 Geroderma Osteodysplasticum 29 0.035
369
BDY001 Body Dysmorphic Disorder 43 0.034
370
c RNG010 Ring Chromosome 15 28 0.034
371
CRT017 Cartilage Disease 48 0.033
372
PTC002 Potocki-Lupski Syndrome 40 0.033
373
MTT002 Metatropic Dysplasia 35 0.033
374
ENC014 Enchondroma 30 0.033
375
PTC006 Potocki-Luspski Syndrome 27 0.033
376
CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23 0.033
377
c MNT239 Mental Retardation, Autosomal Dominant 35 20 0.033
378
CNT067 Central Cord Syndrome 19 0.033
379
P EPN002 Ependymoma 53 0.032
380
c BRN131 Branchiootorenal Syndrome 1 41 0.032
381
c CHN018 Chondrodysplasia Punctata 2, X-Linked 25 0.032
382
CHR219 Chromosome 19q13.11 Deletion Syndrome 23 0.032
383
c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20 0.032
384
c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 13 0.032
385
c CLL016 Collagenopathy, Types Ii and Xi 7 0.032
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