Search results for col2a1

480 hits were found for col2a1

# Family MCID Name MIFTS Score
1
c STC015 Stickler Syndrome, Type I 51 53.311
2
P STC001 Stickler Syndrome 60 52.711
3
SPN008 Spondyloepiphyseal Dysplasia Congenita 54 45.919
4
KNS001 Kniest Dysplasia 51 44.007
5
c ACH041 Achondrogenesis, Type Ii 54 43.457
6
OST062 Osteoarthritis with Mild Chondrodysplasia 47 42.020
7
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 50 39.433
8
PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 43 36.362
9
LGG001 Legg-Calve-Perthes Disease 60 35.221
10
CZC002 Czech Dysplasia 30 34.447
11
SPN154 Spondyloperipheral Dysplasia 34 33.923
12
STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 28 33.691
13
P ACH011 Achondrogenesis 53 33.630
14
SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 28 32.797
15
EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 31 31.490
16
RTN017 Retinal Detachment 60 29.952
17
P MYP006 Myopia 56 29.843
18
c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42 29.255
19
OST012 Osteoarthritis 77 28.337
20
P FML048 Familial Avascular Necrosis of the Femoral Head 25 28.045
21
HYP041 Hypochondrogenesis 35 25.014
22
ODN023 Odontochondrodysplasia 67 22.359
23
P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 51 22.294
24
c TYP042 Type Ii Collagen Disorders 18 22.244
25
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 38 22.093
26
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66 19.928
27
P SCL018 Scoliosis 57 19.045
28
OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 57 18.994
29
CNN005 Connective Tissue Disease 67 18.455
30
P MLT007 Multiple Epiphyseal Dysplasia 56 18.106
31
FND002 Fundus Dystrophy 55 17.766
32
CLF027 Cleft Palate, Isolated 64 17.568
33
SPN250 Spondyloepimetaphyseal Dysplasia 36 17.298
34
P BRC006 Brachydactyly 51 16.054
35
P ART022 Arthritis 71 15.856
36
DYS134 Dysspondyloenchondromatosis 18 15.338
37
P STR022 Stargardt Disease 61 14.456
38
P SNS001 Sensorineural Hearing Loss 59 14.449
39
SKL017 Skeletal Dysplasias 41 13.851
40
P AVS003 Avascular Necrosis 41 13.480
41
P ART023 Arthropathy 61 13.236
42
DST005 Diastrophic Dysplasia 57 12.254
43
P VTR007 Vitreoretinopathy 46 12.169
44
P BND020 Bone Disease 59 11.830
45
OST003 Osteonecrosis 61 11.823
46
P RTN016 Retinal Degeneration 52 11.756
47
P CTR002 Cataract 60 11.570
48
PSD012 Pseudoachondroplasia 59 11.522
49
SYN007 Synovitis 55 11.419
50
P CMP005 Campomelic Dysplasia 65 11.146
51
CRT017 Cartilage Disease 53 11.073
52
P OST002 Osteoporosis 76 10.901
53
ACH004 Achondroplasia 66 10.883
54
BRT054 Brittle Bone Disorder 74 10.591
55
P CLL015 Collagen Disease 48 10.562
56
MRS002 Marshall Syndrome 56 10.390
57
P RHM011 Rheumatoid Arthritis 82 10.082
58
P VTR008 Vitreoretinal Degeneration 29 10.050
59
P MTP001 Metaphyseal Dysplasia 38 9.980
60
VTR002 Vitreous Syneresis 31 9.936
61
CNG021 Congenital Toxoplasmosis 55 9.879
62
WGN003 Wagner Syndrome 32 9.591
63
P STR020 Strabismus 56 9.491
64
CLB002 Clubfoot 51 9.289
65
P GCH001 Gaucher's Disease 70 9.289
66
MRF001 Marfan Syndrome 76 9.177
67
P EYD002 Eye Disease 57 9.177
68
OST016 Osteochondrosis 52 9.051
69
TYM001 Tympanosclerosis 36 8.900
70
SPN027 Spinal Stenosis 59 8.900
71
P CXV002 Coxa Vara 33 8.849
72
P BRC003 Brachyolmia 35 8.822
73
c ACH033 Achondrogenesis, Type Ia 48 8.704
74
PLM021 Pilomyxoid Astrocytoma 42 8.704
75
P DVL012 Developmental Dysplasia of the Hip 1 46 8.625
76
PCT001 Pectus Carinatum 33 8.481
77
VTR003 Vitreous Detachment 41 8.425
78
c STR084 Stargardt Disease 1 53 7.967
79
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21 7.958
80
PRP026 Peripheral Retinal Degeneration 29 7.907
81
EXS001 Exostosis 49 7.770
82
SCH072 Scheuermann Disease 42 7.468
83
HYP042 Hypochondroplasia 59 7.468
84
PRG071 Progressive Pseudorheumatoid Dysplasia 45 7.230
85
P RTN008 Retinitis Pigmentosa 80 7.080
86
TRC097 Tracheomalacia 43 6.979
87
MTT002 Metatropic Dysplasia 49 6.640
88
SYN031 Synovial Chondromatosis 41 6.489
89
P FBR025 Fibrochondrogenesis 55 6.489
90
MCR037 Macroglossia 44 6.293
91
SPN369 Spinal Disease 44 6.293
92
ACR016 Acromesomelic Dysplasia 35 6.293
93
DWR001 Dwarfism 44 5.970
94
MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 46 5.821
95
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 54 5.821
96
MTC018 Metachondromatosis 48 5.821
97
ENC044 Enchondromatosis, Multiple, Ollier Type 56 5.821
98
PTL009 Patella, Chondromalacia of 41 5.821
99
BNS002 Bone Structure Disease 25 5.821
100
P ORF002 Orofacial Cleft 43 5.821
101
CHN057 Chondrodysplasia, Grebe Type 44 5.821
102
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 49 5.821
103
RTN002 Retinal Perforation 37 5.821
104
TRC026 Tracheal Disease 43 5.821
105
RTN005 Retinal Lattice Degeneration 27 5.821
106
KHL001 Kohler's Disease 31 5.821
107
P BND014 Bone Development Disease 33 5.821
108
BND004 Bone Deterioration Disease 28 5.821
109
ISC005 Ischemic Bone Disease 29 5.821
110
BNN003 Bone Inflammation Disease 48 5.821
111
NRG003 Neurogenic Arthropathy 42 5.821
112
VTR005 Vitreous Disease 40 5.821
113
P CHN012 Chondrosarcoma 57 5.090
114
c BRN108 Branchiootic Syndrome 1 62 4.203
115
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 4.117
116
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 3.953
117
DGN001 Degenerative Disc Disease 49 3.870
118
HYP266 Hypoxia 57 3.543
119
HLX001 Helix Syndrome 48 3.337
120
ISL075 Isolated Pierre Robin Sequence 29 3.240
121
CHN010 Chondroma 43 3.130
122
ENC014 Enchondroma 28 3.130
123
P PRR016 Pierre Robin Syndrome 50 3.029
124
INS024 Insulin-Like Growth Factor I 78 2.808
125
RPD005 Rapidly Involuting Congenital Hemangioma 46 2.674
126
P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 15 2.642
127
c STC013 Stickler Syndrome, Type Ii 36 2.482
128
P SPN052 Spondyloarthropathy 55 2.473
129
WGN007 Wagner Vitreoretinopathy 34 2.441
130
c MYP127 Myopia 2, Autosomal Dominant 26 2.403
131
P LTH050 Lethal Chondrodysplasia 13 2.403
132
48X005 48,xyyy 39 2.330
133
c ATS076 Autosomal Recessive Stickler Syndrome 36 2.325
134
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.266
135
P TRT010 Teratoma 51 2.086
136
c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 23 2.086
137
BCK006 Back Pain 47 2.061
138
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 2.006
139
VTR018 Vitreoretinal Degeneration, Snowflake Type 37 1.928
141
P RTN209 Retinoschisis 1, X-Linked, Juvenile 60 1.841
142
SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 47 1.841
143
RFR003 Refractive Error 41 1.841
144
DSS008 Disease of Mental Health 74 1.794
145
P EHL001 Ehlers-Danlos Syndrome 58 1.769
146
47X002 47,xyy 48 1.749
147
ORF053 Orofacial Clefting Syndrome 31 1.749
148
P HYD006 Hydrocephalus 61 1.749
149
c STC012 Stickler Syndrome, Type Iv 22 1.741
150
MSC007 Muscle Hypertrophy 64 1.705
151
SVR004 Severe Combined Immunodeficiency 72 1.705
152
P AST005 Asthma 76 1.648
153
P OVR042 Ovarian Cancer 88 1.648
154
P THN009 Thanatophoric Dysplasia, Type I 63 1.648
155
KSH004 Kashin-Beck Disease 38 1.648
156
OST159 Osteogenic Sarcoma 66 1.648
157
c DFN379 Deafness, Autosomal Dominant 37 20 1.648
158
SPL005 Splenic Artery Aneurysm 26 1.648
159
P MLN008 Melanoma 76 1.648
160
P TXP001 Toxoplasmosis 60 1.648
161
c PRG019 Paragangliomas 2 30 1.536
162
c ACH042 Achondrogenesis, Type Ib 50 1.536
163
P KDN018 Kidney Disease 72 1.536
164
SBM006 Submucosal Cleft Palate 14 1.536
165
VTR001 Vitreoretinal Dystrophy 21 1.536
166
P CRN037 Craniosynostosis 68 1.418
167
P PTS002 Ptosis 52 1.418
168
CYT002 Cytokine Deficiency 43 1.418
169
c OST080 Osteogenesis Imperfecta, Type Ii 56 1.409
170
ATS010 Autosomal Recessive Disease 42 1.409
171
P EXD001 Exudative Vitreoretinopathy 56 1.409
172
SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 18 1.409
173
LMY014 Leiomyoma, Uterine 56 1.409
174
INT323 Intraocular Pressure Quantitative Trait Locus 64 1.409
175
LMY002 Leiomyoma 51 1.409
176
CHR078 Chorioretinitis 51 1.409
177
P RSP003 Respiratory Failure 74 1.409
178
CYS002 Cystic Lymphangioma 45 1.409
179
P TRC031 Trichorhinophalangeal Syndrome 38 1.409
180
MSM003 Mesomelia 15 1.409
181
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.337
182
PLC002 Plica Syndrome 35 1.337
183
c EPP009 Epiphyseal Dysplasia, Multiple, 6 35 1.268
184
SPN119 Spondylarthropathy 38 1.259
185
c BRN131 Branchiootorenal Syndrome 1 45 1.259
186
HYD038 Hydrops Fetalis, Nonimmune 59 1.259
187
P BRN042 Branchiootic Syndrome 41 1.259
188
BKS003 Beukes Hip Dysplasia 44 1.259
189
ODN022 Odontoid Hypoplasia 17 1.259
190
P RNL100 Renal Hypodysplasia/aplasia 1 63 1.259
191
NRR001 Neuroretinitis 42 1.259
192
RTN023 Retinitis 46 1.259
193
MCH006 Mechanical Strabismus 40 1.259
194
P BRN006 Branchiootorenal Syndrome 50 1.259
195
END057 Endometrial Cancer 72 1.251
196
P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 45 1.158
197
c TRC092 Trichorhinophalangeal Syndrome, Type I 54 1.158
198
P BCL017 B-Cell Lymphoma 59 1.158
199
GRG001 Greig Cephalopolysyndactyly Syndrome 64 1.063
200
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 1.063
201
CHR619 Chromosome 2q35 Duplication Syndrome 64 1.063
202
ING001 Inguinal Hernia 59 1.063
203
c JVN010 Juvenile Rheumatoid Arthritis 66 1.063
204
P VTM027 Vitamin D-Dependent Rickets, Type 2a 53 1.057
205
LRW001 Leri-Weill Dyschondrosteosis 43 1.057
206
BNR002 Bone Resorption Disease 47 1.057
207
P EPL164 Epilepsy 68 1.057
208
P TRN020 Turner Syndrome 67 1.057
209
RCK004 Rickets 68 1.057
210
P THR015 Thrombophilia 51 1.057
211
P GND004 Gonadal Dysgenesis 47 1.057
212
P OST001 Osteopetrosis 71 1.057
213
ANK001 Ankylosis 51 1.057
214
P HRD086 Hereditary Hypophosphatemic Rickets 40 1.057
215
P BRS047 Breast Cancer 98 1.024
216
CHR072 Chordoma 57 1.024
217
P HPT023 Hepatocellular Carcinoma 96 0.990
218
P OVR082 Overgrowth Syndrome 49 0.946
219
INT146 Intervertebral Disc Disease 63 0.946
220
c SYS001 Systemic Lupus Erythematosus 87 0.946
221
c SPN225 Spondyloarthropathy 1 70 0.946
222
TND004 Tendinopathy 45 0.946
223
TND005 Tendinitis 54 0.946
224
P PLY014 Polycystic Kidney Disease 69 0.946
225
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 0.946
226
P ORT004 Orthostatic Intolerance 63 0.946
227
P CRN276 Corneal Endothelial Dystrophy 53 0.946
228
P LPS004 Lupus Erythematosus 61 0.946
229
CLF001 Cleft Lip 53 0.946
230
HYP066 Hyperglycemia 61 0.946
231
SPN051 Spondylitis 51 0.946
232
P NGH001 Night Blindness 52 0.946
233
P OTS001 Otosclerosis 49 0.946
234
INF009 Inflammatory Spondylopathy 30 0.946
235
P CHN059 Chondrocalcinosis 52 0.946
236
IDP070 Idiopathic Scoliosis 42 0.946
237
c EPP017 Epiphyseal Dysplasia, Multiple, 1 46 0.819
238
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.819
239
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.819
240
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 23 0.819
241
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.819
242
P GST053 Gastric Cancer 83 0.819
243
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55 0.819
244
LNG040 Langer Mesomelic Dysplasia 36 0.819
245
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.819
246
APR006 Apert Syndrome 70 0.819
247
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 0.819
248
CLF056 Cleft Lip with or Without Cleft Palate 42 0.819
249
PLS011 Plasmacytoma 56 0.819
250
P OST009 Osteochondritis Dissecans 62 0.819
251
HYP068 Hyperostosis 47 0.819
252
CHN011 Chondromalacia 37 0.819
253
MCR013 Microphthalmia 60 0.819
254
P RTN018 Retinal Disease 53 0.819
255
LPD008 Lipid Metabolism Disorder 62 0.819
256
P SCL048 Sclerosteosis 58 0.819
257
DGN002 Degenerative Myopia 31 0.819
258
SHX003 Shox Deficiency Disorders 11 0.819
259
HYP706 Hypermobile Ehlers-Danlos Syndrome 55 0.819
260
BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 25 0.750
261
CNG506 Congenital Amyoplasia 27 0.669
262
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.669
263
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.669
264
AGN016 Aging 54 0.669
265
FRY006 Fryns Microphthalmia Syndrome 52 0.669
266
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.669
267
LPM012 Lipomatosis, Multiple 60 0.669
268
PLY150 Polykaryocytosis Inducer 29 0.669
269
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.669
270
THN010 Thanatophoric Dysplasia, Type Ii 45 0.669
271
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.669
272
P LYS001 Loeys-Dietz Syndrome 65 0.669
273
P ATL001 Atelosteogenesis 34 0.669
274
c BRC053 Brachyolmia Type 2 25 0.669
275
PRT251 Proteinuria, Chronic Benign 57 0.669
276
CKT002 Cakut 47 0.669
277
P MCL001 Mucolipidosis 49 0.669
278
UMB002 Umbilical Hernia 47 0.669
279
c RTN041 Retinitis Pigmentosa 11 42 0.669
280
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 53 0.669
281
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.669
282
c ATL015 Atelosteogenesis, Type Ii 40 0.669
283
CHR629 Charcot-Marie-Tooth Disease and Deafness 50 0.669
284
P LRS001 Larsen Syndrome 61 0.669
285
SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 39 0.669
286
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.669
287
c MYP138 Myopia 3, Autosomal Dominant 24 0.669
288
AST006 Astigmatism 47 0.669
289
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.669
290
PRC054 Perching Syndrome 33 0.669
291
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.669
292
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.669
293
P RTN024 Retinoblastoma 73 0.669
294
c TYP009 Type 2 Diabetes Mellitus 92 0.669
295
FBR011 Fibrodysplasia Ossificans Progressiva 67 0.669
296
c EPD030 Epidermolysis Bullosa Simplex, Localized 44 0.669
297
ARG004 Argyria 26 0.669
298
RNL078 Renal Dysplasia 46 0.669
299
MCR103 Microtia 44 0.669
300
SPN439 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 20 0.669
301
P HLP001 Holoprosencephaly 69 0.669
302
P EPD003 Epidermolysis Bullosa Simplex 57 0.669
303
IGG001 Iga Glomerulonephritis 50 0.669
304
ART016 Aortic Aneurysm 68 0.669
305
P DNT011 Dentinogenesis Imperfecta 52 0.669
306
P ACN011 Acne 57 0.669
307
PLY012 Polyhydramnios 46 0.669
308
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.669
309
PLM005 Pleomorphic Lipoma 40 0.669
310
P UVT001 Uveitis 57 0.669
311
P VSC007 Vascular Disease 63 0.669
312
ALT003 Alternating Exotropia 33 0.669
313
EXT022 Exotropia 42 0.669
314
PLC008 Placenta Disease 49 0.669
315
SPT004 Septic Arthritis 58 0.669
316
PRR001 Periarthritis 34 0.669
317
P EPD016 Epidermolysis Bullosa 53 0.669
318
c GM1007 Gm1 Gangliosidosis 65 0.669
319
P ART021 Arteriosclerosis 54 0.669
320
SQM006 Squamous Cell Carcinoma 60 0.669
321
P HYP265 Hypotonia 42 0.669
322
P GNG009 Gangliosidosis 44 0.669
323
P PNC035 Pancreatic Cancer 86 0.551
324
ADN011 Adenoid Cystic Carcinoma 68 0.551
325
IRN008 Iron Overload in Africa 51 0.517
326
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.517
327
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.517
328
HPT079 Hepatoid Adenocarcinoma 39 0.517
329
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.517
330
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 60 0.517
331
RJS001 Ruijs-Aalfs Syndrome 47 0.517
332
c CLR087 Colorectal Cancer 12 34 0.517
333
c HPT073 Hepatitis C Virus 71 0.517
334
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 0.517
335
GST103 Gastric Cancer, Hereditary Diffuse 68 0.517
336
PDT042 Pediatric Hepatocellular Carcinoma 49 0.517
337
P LNG021 Lung Occult Small Cell Carcinoma 20 0.517
338
SML009 Small Intestine Adenocarcinoma 57 0.517
339
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.517
340
SKN022 Skin Squamous Cell Carcinoma 54 0.517
341
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.517
342
ADL096 Adult Hepatocellular Carcinoma 60 0.517
343
FBR086 Fibrolamellar Carcinoma 59 0.517
344
HPT011 Hepatocellular Clear Cell Carcinoma 46 0.517
345
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 0.517
346
PTY007 Pityriasis Rotunda 26 0.517
347
c TYP008 Type 1 Diabetes Mellitus 70 0.473
348
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.473
349
CLF004 Cleft Lip/palate 57 0.473
350
SYN106 Syndromic Craniosynostosis 32 0.473
351
PRT086 Partial Hydatidiform Mole 23 0.473
352
IDP069 Idiopathic Avascular Necrosis 23 0.473
353
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 20 0.473
354
GST110 Gastroduodenal Malformation 5 0.473
355
PFF001 Pfeiffer Syndrome 77 0.473
356
P ALZ034 Alzheimer Disease 87 0.473
357
c ART115 Aortic Valve Disease 1 74 0.473
358
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.473
359
c ORF037 Orofaciodigital Syndrome I 59 0.473
360
c RTN052 Retinitis Pigmentosa 23 37 0.473
361
ENH001 Enhanced S-Cone Syndrome 58 0.473
362
P RTH006 Rothmund-Thomson Syndrome, Type 2 67 0.473
363
ANG004 Angioid Streaks 40 0.473
364
c EPP012 Epiphyseal Dysplasia, Multiple, 2 41 0.473
365
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 43 0.473
366
P TRC072 Treacher Collins Syndrome 1 62 0.473
367
c OPT053 Optic Atrophy 1 62 0.473
368
ATM095 Autoimmune Disease 61 0.473
369
OTT002 Otitis Media 71 0.473
370
P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 0.473
371
BRG013 Buerger Disease 57 0.473
372
TKL001 Tukel Syndrome 52 0.473
373
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 49 0.473
374
P DST002 Distal Arthrogryposis 65 0.473
375
P FML011 Familial Adenomatous Polyposis 71 0.473
376
MYX005 Myxoid Liposarcoma 65 0.473
377
P PRX021 Proximal Symphalangism 50 0.473
378
c ORF029 Orofacial Cleft 13 15 0.473
379
c FNC028 Fanconi Anemia, Complementation Group L 46 0.473
380
NDL024 Nodal Marginal Zone Lymphoma 37 0.473
381
P ANT088 Anterior Segment Dysgenesis 55 0.473
382
P LYM118 Lymphoma 67 0.473
383
DYS181 Dyssegmental Dysplasia with Glaucoma 13 0.473
384
CRN264 Craniosynostosis with Fibular Aplasia 29 0.473
385
BLL001 Baller-Gerold Syndrome 58 0.473
386
DNN002 Donnai-Barrow Syndrome 55 0.473
387
WRN001 Werner Syndrome 69 0.473
388
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.473
389
c PRG020 Paragangliomas 3 39 0.473
391
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 0.473
392
c BRD019 Bardet-Biedl Syndrome 7 43 0.473
393
GLS018 Glass Syndrome 61 0.473
394
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.473
395
MSL005 Mseleni Joint Disease 21 0.473
396
c LYS018 Loeys-Dietz Syndrome 2 50 0.473
397
CFF002 Coffin-Lowry Syndrome 60 0.473
398
TBL029 Tubulin, Beta 28 0.473
399
ART001 Arterial Tortuosity Syndrome 65 0.473
400
DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 25 0.473
401
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.473
402
SCH068 Schwartz-Jampel Syndrome, Type 1 52 0.473
403
P PSD087 Pseudoxanthoma Elasticum 67 0.473
404
VTR010 Vitreoretinochoroidopathy 49 0.473
405
P SCL057 Scoliosis, Isolated 1 40 0.473
406
c TBR025 Tuberous Sclerosis 1 84 0.473
407
EHL052 Ehlers-Danlos Syndrome, Vascular Type 65 0.473
408
c EXS019 Exostoses, Multiple, Type I 54 0.473
409
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 72 0.473
410
P NNN008 Noonan Syndrome 1 77 0.473
411
PCT003 Pectus Excavatum 46 0.473
412
P GLM040 Glioma Susceptibility 1 71 0.473
414
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 22 0.473
415
c BRD021 Bardet-Biedl Syndrome 9 40 0.473
416
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.473
417
MNC001 Monocular Esotropia 30 0.473
418
PRM329 Premature Aging 36 0.473
419
XLN231 X-Linked Alport Syndrome 41 0.473
420
P ISL078 Isolated Ectopia Lentis 58 0.473
421
P VNW001 Von Willebrand's Disease 65 0.473
422
BNS007 Bone Sarcoma 51 0.473
423
P HYP097 Hyperekplexia 62 0.473
424
P CHR285 Chronic Myelomonocytic Leukemia 60 0.473
425
P LTT001 Lattice Corneal Dystrophy 31 0.473
426
P AMY004 Amyloidosis 70 0.473
427
c CHR684 Chronic Kidney Disease 69 0.473
428
PLM014 Pleomorphic Adenoma 51 0.473
429
URM002 Uremia 47 0.473
430
P RHB003 Rhabdomyosarcoma 66 0.473
431
P WRD001 Waardenburg's Syndrome 60 0.473
432
c CHR036 Chronic Cholangitis 25 0.473
433
P CHL066 Cholangitis 52 0.473
434
CHR074 Choriocarcinoma 46 0.473
435
GST010 Gestational Trophoblastic Neoplasm 52 0.473
436
EST005 Esotropia 43 0.473
437
DYS018 Dysostosis 44 0.473
438
GST040 Gastric Adenocarcinoma 67 0.473
439
HRT012 Heart Valve Disease 53 0.473
440
MLG077 Malignant Peripheral Nerve Sheath Tumor 54 0.473
441
PLM041 Pulmonary Valve Stenosis 50 0.473
442
ADN018 Adenoma 59 0.473
443
SMN007 Seminoma 42 0.473
444
NPH009 Nephrolithiasis 54 0.473
445
P PLC011 Pilocytic Astrocytoma 57 0.473
446
P HRD001 Hereditary Multiple Exostoses 48 0.473
447
CMB007 Combined Immunodeficiency 57 0.473
448
P LNG064 Lung Cancer Susceptibility 3 70 0.473
449
P GRF003 Graft-Versus-Host Disease 71 0.473
450
c JVN061 Juvenile Arthritis 56 0.473
451
PLR008 Pleurisy 50 0.473
452
c PRC016 Pre-Eclampsia 65 0.473
453
SYN005 Synostosis 43 0.473
454
SPN020 Spondylosis 46 0.473
455
PPL022 Papilloma 53 0.473
456
END041 Endometrial Adenocarcinoma 64 0.473
457
P HYP069 Hyperparathyroidism 62 0.473
458
SQM002 Squamous Cell Papilloma 46 0.473
459
MLG169 Malignant Astrocytoma 57 0.473
460
P TBR001 Tuberous Sclerosis 69 0.473
461
P ALP004 Alport Syndrome 69 0.473
462
LMY003 Leiomyomatosis 44 0.473
463
ART008 Arteriosclerosis Obliterans 40 0.473
464
INT020 Intravenous Leiomyomatosis 36 0.473
465
P CRN025 Corneal Dystrophy 49 0.473
466
MSN004 Mesenchymal Cell Neoplasm 42 0.473
467
P LPS002 Liposarcoma 64 0.473
468
PRM024 Primary Angle-Closure Glaucoma 39 0.473
469
XLN247 X-Linked Congenital Retinoschisis 20 0.473
470
P CLS054 Classic Ehlers-Danlos Syndrome 57 0.473
471
P JVN042 Juvenile Retinoschisis 39 0.473
472
c PSD047 Pseudo-Turner Syndrome 52 0.473
473
HRD104 Hereditary Multiple Osteochondromas 43 0.473
474
MCP033 Mucopolysaccharidoses 44 0.473
475
CTR027 Cataract-Glaucoma 22 0.473
476
MD2001 Med23 20 0.473
477
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 8 0.473
478
DNC004 Diencephalic Syndrome 36 0.473
479
HPS001 Hip Subluxation 16 0.473
480
c WLM018 Wilms Tumor 5 53 0.470
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