Search results for gli3

414 hits were found for gli3

# Family MCID Name MIFTS Score
1
P PLL001 Pallister-Hall Syndrome 62 77.599
2
GRG001 Greig Cephalopolysyndactyly Syndrome 64 73.131
3
P PLY006 Polydactyly 58 43.987
4
P PLY147 Polydactyly, Postaxial, Type A1 52 38.664
5
c PLY149 Polydactyly, Preaxial Iv 31 26.746
6
ACR008 Acrocallosal Syndrome 69 22.266
7
P CLR023 Colorectal Cancer 100 16.700
8
TBL008 Tibial Hemimelia 31 15.234
9
CHR619 Chromosome 2q35 Duplication Syndrome 64 14.107
10
c BSL007 Basal Cell Carcinoma 67 12.551
11
P HRS035 Hirschsprung Disease 1 66 12.463
12
UMB002 Umbilical Hernia 46 12.312
13
P PTS002 Ptosis 52 12.189
14
P MDL005 Medulloblastoma 75 11.343
15
P CRN037 Craniosynostosis 67 11.179
16
P HLP001 Holoprosencephaly 68 10.813
17
ESP020 Esophageal Atresia 59 10.671
18
CLF027 Cleft Palate, Isolated 64 10.473
19
c DPH024 Diaphragmatic Hernia, Congenital 63 10.431
20
SYN005 Synostosis 43 10.355
21
TTH002 Tooth Agenesis 61 10.075
22
P SYN012 Synpolydactyly 41 9.963
23
NRL016 Neural Tube Defects 80 9.942
24
P KLL001 Kallmann Syndrome 65 9.902
25
P OMP004 Omphalocele 47 9.888
26
P JBR020 Joubert Syndrome 1 74 9.135
27
P MCK013 Meckel Syndrome, Type 1 64 8.980
28
MCK005 Mckusick-Kaufman Syndrome 61 8.941
29
P SKN015 Skin Carcinoma 71 8.941
30
PFF001 Pfeiffer Syndrome 77 8.890
31
BRN028 Brain Cancer 73 8.890
32
XRD010 Xeroderma Pigmentosum, Variant Type 72 8.767
33
ESP029 Esophageal Atresia/tracheoesophageal Fistula 28 8.767
34
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 8.408
35
WHT019 White-Sutton Syndrome 44 7.651
36
ANS023 Anus, Imperforate 56 7.471
37
BSL036 Basal Cell Nevus Syndrome 73 7.416
38
NNS054 Non-Syndromic Postaxial Polydactyly 7 7.373
39
DYS018 Dysostosis 43 7.261
40
CRY035 Cryptorchidism, Unilateral or Bilateral 57 7.187
41
c CRP023 Carpenter Syndrome 1 59 7.124
42
HMM005 Hemimelia 35 7.074
43
P TWN003 Townes-Brocks Syndrome 55 7.045
44
LRN006 Laurin-Sandrow Syndrome 48 7.045
45
CLL036 Culler-Jones Syndrome 50 6.973
46
NNS055 Non-Syndromic Preaxial Polydactyly 7 6.546
47
SYN031 Synovial Chondromatosis 42 6.474
48
ELL001 Ellis-Van Creveld Syndrome 61 6.445
49
P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 42 6.322
50
CHR103 Charge Syndrome 65 6.322
51
c AMY091 Amyotrophic Lateral Sclerosis 1 87 6.322
52
P ACR072 Acrorenal Syndrome 34 6.322
53
P NPH005 Nephronophthisis 59 6.322
54
APR006 Apert Syndrome 69 6.199
55
P FNG006 Feingold Syndrome 1 61 6.199
56
P SYN061 Syndactyly, Type Iv 41 6.199
57
TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 46 6.199
58
MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 47 6.199
59
P ORF002 Orofacial Cleft 43 6.199
60
PCK003 Pick Disease of Brain 70 6.199
61
HLZ001 Holzgreve Syndrome 38 6.199
62
P RTN008 Retinitis Pigmentosa 79 6.199
63
c JBR028 Joubert Syndrome 13 43 6.199
64
c ORF039 Orofaciodigital Syndrome Vii 21 6.199
65
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 64 6.199
66
P BND014 Bone Development Disease 33 6.199
67
PHY002 Physical Disorder 40 6.199
68
CHR569 Chromosomal Duplication Syndrome 23 6.199
69
ANS012 Anus Disease 49 6.199
70
P BRD002 Bardet-Biedl Syndrome 66 6.199
71
DSS008 Disease of Mental Health 74 6.199
72
INF039 Infratentorial Cancer 39 6.199
73
P CNG001 Congenital Myasthenic Syndrome 68 6.199
74
RCT017 Rectal Disease 49 6.199
75
SKN023 Skin Tag 44 6.199
76
CNG587 Congenital Limb Malformation 12 6.199
77
PLL017 Pallister-Hall-Like Syndrome 37 4.644
78
HYP231 Hypothalamic Hamartomas 33 4.324
79
P PRS040 Prostate Cancer 95 2.410
80
HYP748 Hypertelorism 46 2.209
81
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 42 2.127
82
CLB002 Clubfoot 50 2.127
83
P PNC035 Pancreatic Cancer 87 1.983
84
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.872
85
CNT108 Central Polydactyly 14 1.872
86
c HLP023 Holoprosencephaly 1 56 1.795
87
P LNG064 Lung Cancer Susceptibility 3 69 1.788
88
P ORF001 Orofaciodigital Syndrome 50 1.735
89
c LKM061 Leukemia, Acute Myeloid 83 1.676
90
HYD002 Hydronephrosis 58 1.640
91
P OVR082 Overgrowth Syndrome 41 1.588
92
CRV035 Cervical Cancer 72 1.481
93
LNG039 Lung Squamous Cell Carcinoma 57 1.480
94
c DYS056 Dystonia 12 63 1.452
95
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 44 1.452
96
P LNG032 Lung Cancer 98 1.442
97
GLB002 Glioblastoma 67 1.383
98
HTR003 Heterotaxy 43 1.383
99
OST015 Osteochondrodysplasia 60 1.364
100
P NSP012 Nasopharyngeal Carcinoma 60 1.354
101
GST040 Gastric Adenocarcinoma 66 1.311
102
c GLM047 Glioma Susceptibility 3 32 1.291
103
P MYL006 Myeloid Leukemia 60 1.291
104
RNL025 Renal Hypoplasia 46 1.273
105
P OVR042 Ovarian Cancer 88 1.268
106
P GST053 Gastric Cancer 82 1.261
107
c TRC092 Trichorhinophalangeal Syndrome, Type I 54 1.236
108
P LKM002 Leukemia 65 1.216
109
END057 Endometrial Cancer 76 1.160
110
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.134
111
LNG012 Lung Occult Squamous Cell Carcinoma 20 1.103
112
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20 1.103
113
CLF001 Cleft Lip 54 1.090
114
c OPT051 Opitz Gbbb Syndrome, Type I 45 1.042
115
CLP005 Ciliopathy 40 1.042
116
P HYP040 Hypospadias 51 1.025
117
SVR004 Severe Combined Immunodeficiency 70 1.007
118
P BLD134 Bladder Cancer 79 0.988
119
P WRD001 Waardenburg's Syndrome 60 0.988
120
P TMR010 Tumor Predisposition Syndrome 69 0.987
121
ADN011 Adenoid Cystic Carcinoma 68 0.987
122
BLD173 Bladder Small Cell Carcinoma 44 0.987
123
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 0.987
124
SML009 Small Intestine Adenocarcinoma 57 0.987
125
ADN089 Adenosquamous Lung Carcinoma 51 0.987
126
P BRS047 Breast Cancer 97 0.968
127
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.968
128
c PRG020 Paragangliomas 3 39 0.968
129
ORL015 Oral Squamous Cell Carcinoma 43 0.968
130
P SNS001 Sensorineural Hearing Loss 60 0.968
131
P EPL164 Epilepsy 70 0.968
132
P HYD006 Hydrocephalus 62 0.968
133
P MCR010 Microcephaly 59 0.968
135
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.947
136
P VSC013 Visceral Heterotaxy 53 0.924
137
PLY150 Polykaryocytosis Inducer 29 0.924
138
HTR014 Heterotaxy, Visceral, 1, X-Linked 40 0.924
139
SQM006 Squamous Cell Carcinoma 59 0.924
140
P GLL018 Gallbladder Cancer 59 0.924
141
FTT001 Fatty Liver Disease 61 0.924
142
P LYM118 Lymphoma 66 0.900
143
CRP032 Corpus Callosum, Agenesis of 49 0.900
144
c CRB191 Cerebral Cavernous Malformations 2 45 0.900
145
P SPP010 Suppressor of Tumorigenicity 3 50 0.900
146
P CRB048 Cerebral Cavernous Malformations 63 0.900
147
OHD003 Ohdo Syndrome, X-Linked 29 0.900
148
PNC129 Pancreatic Adenocarcinoma 64 0.900
149
c ORF037 Orofaciodigital Syndrome I 59 0.874
150
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.874
151
DFF005 Diffuse Large B-Cell Lymphoma 55 0.874
152
MCR013 Microphthalmia 59 0.874
153
P BCL017 B-Cell Lymphoma 57 0.874
154
OST012 Osteoarthritis 77 0.874
155
GLL036 Gallbladder, Agenesis of 18 0.845
156
HLX001 Helix Syndrome 47 0.845
157
c PLY136 Polydactyly, Preaxial I 32 0.845
158
CHL065 Cholangiocarcinoma 57 0.845
159
c TWN011 Townes-Brocks Syndrome 1 34 0.845
160
INT079 Intrahepatic Cholangiocarcinoma 51 0.845
161
RDC002 Radiculopathy 51 0.845
162
CLF056 Cleft Lip with or Without Cleft Palate 43 0.845
163
FBR088 Fibromatosis, Gingival, with Progressive Deafness 25 0.812
164
c SML038 Small Cell Cancer of the Lung 68 0.812
165
P SPR119 Spermatogenic Failure, X-Linked, 1 36 0.812
166
MYL069 Myeloma, Multiple 76 0.812
167
SLC006 Silicosis 55 0.812
168
P MLN007 Male Infertility 56 0.812
169
AZS001 Azoospermia 45 0.812
170
c HLP026 Holoprosencephaly 3 48 0.774
171
SCH018 Schizencephaly 52 0.774
172
P LKM062 Leukemia, Acute Lymphoblastic 69 0.774
173
P MLT008 Multinodular Goiter 41 0.774
174
SPN221 Spina Bifida Occulta 39 0.774
175
GTR002 Goiter 52 0.774
176
GLC003 Glucose Intolerance 53 0.774
177
CHL061 Childhood Leukemia 47 0.774
178
CRN088 Craniorachischisis 35 0.774
179
P SZR006 Seizure Disorder 69 0.774
180
CHR178 Chromosomal Triplication 33 0.774
181
P SCL048 Sclerosteosis 58 0.723
182
MHR002 Mohr Syndrome 35 0.723
183
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66 0.723
184
SPN008 Spondyloepiphyseal Dysplasia Congenita 54 0.723
185
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.667
186
CLR030 Clear Cell Renal Cell Carcinoma 53 0.667
187
EXN003 Exencephaly 30 0.505
188
VNH007 Von Hippel-Lindau Syndrome 72 0.493
189
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59 0.493
190
c CLR087 Colorectal Cancer 12 34 0.493
191
GST103 Gastric Cancer, Hereditary Diffuse 68 0.493
192
CLN015 Colon Adenocarcinoma 64 0.493
193
MLT003 Multilocular Clear Cell Renal Cell Carcinoma 33 0.493
194
P LNG021 Lung Occult Small Cell Carcinoma 20 0.493
195
LNG019 Lung Combined Type Small Cell Carcinoma 34 0.493
196
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.493
197
MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28 0.493
198
HPT070 Hepatosplenic T-Cell Lymphoma 35 0.471
199
MYL005 Myelofibrosis 70 0.455
200
TRC035 Tracheal Agenesis 31 0.455
201
P HYP083 Hypopituitarism 51 0.442
202
GLM045 Glioma 62 0.425
203
GLL048 Glial Tumor 51 0.425
204
CLF004 Cleft Lip/palate 56 0.406
205
P RHB003 Rhabdomyosarcoma 66 0.347
206
P NRB001 Neuroblastoma 66 0.347
207
P BRC006 Brachydactyly 52 0.324
208
P ADN016 Adenocarcinoma 63 0.324
209
LYM133 Lymphoma, Hodgkin, Classic 69 0.300
210
P ANP001 Anaplastic Large Cell Lymphoma 59 0.300
211
PTT009 Pituitary Gland Disease 52 0.300
212
PNS014 Penis Agenesis 38 0.274
213
P PRC019 Precocious Puberty 48 0.274
214
VGN031 Vaginal Atresia 19 0.274
215
c HYD064 Hydrocephalus, Congenital, 1 51 0.245
216
OPT054 Opitz-Kaveggia Syndrome 52 0.245
217
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.245
218
P CRN024 Corneal Disease 43 0.245
219
HYP080 Hypogonadism 49 0.245
220
P HYP730 Hypogonadotropic Hypogonadism 57 0.245
221
PLY024 Polymicrogyria 48 0.245
222
LJN002 Lujan Syndrome 20 0.245
223
CVR010 Cavernous Malformation 29 0.245
224
c ATS007 Autism Spectrum Disorder 71 0.212
225
P RTN024 Retinoblastoma 72 0.212
226
c HLP029 Holoprosencephaly 4 44 0.212
227
GST019 Gastrointestinal Stromal Tumor 78 0.212
228
P LKM071 Leukemia, Chronic Lymphocytic 74 0.212
229
FRY006 Fryns Microphthalmia Syndrome 52 0.212
230
P FLL037 Follicular Lymphoma 66 0.212
231
P ICH004 Ichthyosis 56 0.212
232
CLL014 Cll/sll 45 0.212
233
OST016 Osteochondrosis 52 0.212
234
GRW007 Growth Hormone Deficiency 47 0.212
235
CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18 0.212
236
PST092 Posttransplant Acute Limbic Encephalitis 29 0.212
237
c PLY178 Polydactyly, Postaxial, Type A8 18 0.173
238
P SLV027 Silver-Russell Syndrome 1 52 0.173
239
VTR016 Vater/vacterl Association 50 0.173
240
P ATS364 Autism 72 0.173
241
HLT001 Holt-Oram Syndrome 66 0.173
242
OST159 Osteogenic Sarcoma 66 0.173
243
PSD046 Pseudotrisomy 13 Syndrome 28 0.173
244
OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 48 0.173
245
P PRV002 Periventricular Nodular Heterotopia 52 0.173
246
c JBR018 Joubert Syndrome 4 53 0.173
247
c JBR011 Joubert Syndrome 7 46 0.173
248
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 0.173
249
c PLY053 Polydactyly, Postaxial, Type A3 13 0.173
250
c JBR043 Joubert Syndrome 32 24 0.173
251
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.173
252
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52 0.173
253
c SPL067 Split-Hand/foot Malformation 1 46 0.173
254
P PLY014 Polycystic Kidney Disease 71 0.173
255
ANT018 Anthracosis 50 0.173
256
P PNM006 Pneumoconiosis 55 0.173
257
P VNT002 Ventricular Septal Defect 58 0.173
258
TRN018 Transitional Cell Carcinoma 56 0.173
259
P LMY004 Leiomyosarcoma 62 0.173
260
HRT011 Heart Septal Defect 49 0.173
261
P EMB005 Embryonal Rhabdomyosarcoma 53 0.173
262
GRY001 Gray Zone Lymphoma 35 0.173
263
P MYP006 Myopia 55 0.173
264
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.173
265
CNS004 Constipation 56 0.173
266
BLD131 Bladder Urothelial Carcinoma 59 0.173
267
HGH043 High Grade Glioma 46 0.173
268
P TRT010 Teratoma 50 0.173
269
EMB004 Embryonal Carcinoma 55 0.173
270
PTS001 Patau Syndrome 55 0.173
271
LMY002 Leiomyoma 51 0.173
272
TNG007 Tongue Carcinoma 55 0.173
273
VCT001 Vacterl Association 46 0.173
274
CHR074 Choriocarcinoma 46 0.173
275
END086 End Stage Renal Disease 54 0.173
276
HYP572 Hypoganglionosis 28 0.173
277
c CNT075 Central Precocious Puberty 53 0.173
278
CNG562 Congenital Hypogonadotropic Hypogonadism 28 0.173
279
PTT041 Pituitary Stalk Interruption Syndrome 54 0.173
280
RFR003 Refractive Error 41 0.173
281
DNC004 Diencephalic Syndrome 36 0.173
282
SYN106 Syndromic Craniosynostosis 35 0.173
283
FCL090 Facial Cleft 32 0.173
284
ISL121 Isolated Split Hand-Split Foot Malformation 42 0.173
285
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 41 0.173
286
PTR034 Paternal Uniparental Disomy 20 0.173
287
SFT003 Soft Tissue Sarcoma 43 0.173
288
MCR103 Microtia 40 0.173
289
HDN002 Head Injury 44 0.173
290
ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 44 0.173
291
APR001 Apraxia 51 0.123
292
CLT003 Colitis 63 0.123
293
MYL020 Myelomeningocele 51 0.123
294
c MCK028 Meckel Syndrome 13 25 0.123
295
c PLY144 Polydactyly, Postaxial, Type A7 19 0.123
296
MYL009 Myelodysplastic Syndrome 67 0.123
297
P CRN038 Carney Complex Variant 63 0.123
298
P MTR004 Maturity-Onset Diabetes of the Young 66 0.123
299
P CTN015 Cutaneous T Cell Lymphoma 48 0.123
300
P INF037 Inflammatory Bowel Disease 53 0.123
301
c VSC019 Vesicoureteral Reflux 1 56 0.123
302
ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26 0.123
303
CLF051 Cleft Larynx, Posterior 27 0.123
304
MCR037 Macroglossia 44 0.123
305
CLB010 Coloboma of Macula 53 0.123
306
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53 0.123
307
SPT006 Septooptic Dysplasia 62 0.123
308
OHD004 Ohdo Syndrome 48 0.123
309
OCL069 Ocular Motor Apraxia 57 0.123
310
P BCK002 Beckwith-Wiedemann Syndrome 61 0.123
311
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.123
312
c OTP006 Otopalatodigital Syndrome, Type I 59 0.123
313
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 0.123
314
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66 0.123
315
c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55 0.123
316
RHB024 Rhabdomyosarcoma 2 65 0.123
317
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.123
318
P FRN036 Frontonasal Dysplasia 1 43 0.123
320
PTC001 Potocki-Shaffer Syndrome 43 0.123
321
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.123
322
c INF078 Inflammatory Bowel Disease 2 28 0.123
323
CRR017 Curry-Jones Syndrome 36 0.123
324
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.123
325
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 0.123
326
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.123
327
P CRN323 Cranioectodermal Dysplasia 58 0.123
328
c PRT060 Parietal Foramina 2 31 0.123
329
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.123
330
PRC054 Perching Syndrome 32 0.123
331
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.123
332
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.123
333
c JBR042 Joubert Syndrome 23 38 0.123
334
c PLY184 Polydactyly, Postaxial, Type A10 17 0.123
335
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 50 0.123
336
c PNC106 Pancreatic Agenesis 1 51 0.123
337
c ORF034 Orofaciodigital Syndrome Vi 55 0.123
338
c BRD010 Bardet-Biedl Syndrome 1 64 0.123
339
c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37 0.123
340
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 51 0.123
341
P HYD033 Hydrolethalus Syndrome 1 44 0.123
342
c SPL024 Split-Hand/foot Malformation 3 43 0.123
343
TTH032 Tooth Size 35 0.123
344
CRL006 Caroli Disease, Isolated 32 0.123
345
HYD040 Hydrolethalus Syndrome 2 31 0.123
346
c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44 0.123
347
c LKM063 Leukemia, Chronic Myeloid 70 0.123
348
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.123
349
c PLY054 Polydactyly, Postaxial, Type A4 13 0.123
350
c JBR021 Joubert Syndrome 18 26 0.123
351
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.123
352
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.123
353
STH001 Saethre-Chotzen Syndrome 65 0.123
354
SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 22 0.123
355
ESP021 Esophageal Cancer 84 0.123
356
HRW001 Hair Whorl 35 0.123
357
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.123
358
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 52 0.123
359
c FNC043 Fanconi Anemia, Complementation Group E 62 0.123
360
P FNC044 Fanconi Anemia, Complementation Group C 56 0.123
361
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.123
362
c ORF035 Orofaciodigital Syndrome Iv 50 0.123
363
c INF088 Inflammatory Bowel Disease 5 29 0.123
364
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.123
365
c JBR004 Joubert Syndrome 2 49 0.123
366
AML029 Ameloblastoma 46 0.123
367
P RSP003 Respiratory Failure 73 0.123
368
P SPL061 Split Hand-Foot Malformation 43 0.123
369
CRL004 Caroli Disease 46 0.123
370
GST052 Gestational Choriocarcinoma 34 0.123
371
P HYP069 Hyperparathyroidism 62 0.123
372
GNG005 Gangliocytoma 54 0.123
373
SKN013 Skin Benign Neoplasm 49 0.123
374
P CYS039 Cystic Kidney Disease 52 0.123
375
INF058 Inflammatory Myofibroblastic Tumor 45 0.123
376
P KLP003 Klippel-Feil Syndrome 47 0.123
377
CLN044 Colon Adenoma 44 0.123
378
GNG002 Ganglioneuroma 52 0.123
379
URT010 Ureteral Obstruction 44 0.123
380
FCL010 Focal Epithelial Hyperplasia 36 0.123
381
NPH009 Nephrolithiasis 54 0.123
382
ADN018 Adenoma 58 0.123
383
P LTR001 Lateral Sclerosis 57 0.123
384
MDD018 Middle East Respiratory Syndrome 44 0.123
385
PNC034 Pancreas Disease 49 0.123
386
MRK001 Merkel Cell Carcinoma 64 0.123
387
CHL018 Childhood Medulloblastoma 48 0.123
388
c SCN007 Secondary Hyperparathyroidism 50 0.123
389
GST010 Gestational Trophoblastic Neoplasm 52 0.123
390
HYP066 Hyperglycemia 60 0.123
391
END062 Endometrial Hyperplasia 47 0.123
392
CRN027 Corneal Neovascularization 47 0.123
393
P MLN008 Melanoma 75 0.123
394
RHB001 Rhabdoid Cancer 68 0.123
395
P TRC031 Trichorhinophalangeal Syndrome 37 0.123
396
BRN056 Bronchopulmonary Dysplasia 57 0.123
397
ORB013 Orbital Disease 42 0.123
398
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 0.123
399
ULC004 Ulcerative Colitis 74 0.123
400
PTT001 Pituitary Hypoplasia 34 0.123
401
P RTN016 Retinal Degeneration 52 0.123
402
HRS011 Horseshoe Kidney 31 0.123
403
P NRV007 Nervous System Disease 65 0.123
404
c CHR684 Chronic Kidney Disease 73 0.123
405
GRM010 Germ Cells Tumors 33 0.123
406
PTT037 Pituitary Tumors 44 0.123
407
P HRP006 Herpes Simplex 65 0.123
408
MXD032 Mixed Germ Cell Tumor 24 0.123
409
LRY026 Laryngeal Cleft 29 0.123
410
SHR044 Short Rib-Polydactyly Syndrome 47 0.123
411
JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 35 0.123
412
OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 12 0.123
413
MNG006 Monogenic Diabetes 45 0.123
414
HYP264 Hypertonia 35 0.123
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