Search results for pax3

425 hits were found for pax3

# Family MCID Name MIFTS Score
1
c WRD030 Waardenburg Syndrome, Type 1 54 56.519
2
CRN048 Craniofacial-Deafness-Hand Syndrome 52 46.865
3
c WRD031 Waardenburg Syndrome, Type 3 46 41.388
4
P WRD001 Waardenburg's Syndrome 60 40.819
5
RHB024 Rhabdomyosarcoma 2 65 39.857
6
P RHB003 Rhabdomyosarcoma 66 31.543
7
RRG078 Rare Genetic Deafness 38 22.940
8
NRL016 Neural Tube Defects 80 19.405
9
P EMB005 Embryonal Rhabdomyosarcoma 53 14.954
10
MCR013 Microphthalmia 59 14.950
11
P MLN008 Melanoma 75 14.706
12
P SNS001 Sensorineural Hearing Loss 60 14.643
13
P MDL005 Medulloblastoma 75 12.989
14
MYL020 Myelomeningocele 51 12.498
15
PLM030 Pleomorphic Rhabdomyosarcoma 40 11.593
16
MSC072 Muscle Cancer 48 11.145
17
EWN003 Ewing Sarcoma 69 11.102
18
P HRS035 Hirschsprung Disease 1 66 10.878
19
BRN032 Brain Glioma 45 10.791
20
DSS008 Disease of Mental Health 74 10.606
21
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68 10.271
22
PBL005 Piebald Trait 60 9.988
23
P ANR048 Aniridia 1 66 9.420
24
ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 50 9.389
25
P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 24 9.389
26
PND002 Pendred Syndrome 57 9.246
27
P RTN018 Retinal Disease 53 9.125
28
SKL003 Skeletal Muscle Cancer 31 8.218
29
c WRD033 Waardenburg Syndrome, Type 2e 53 8.179
30
SRC027 Sarcoma, Synovial 58 7.929
31
c WRD032 Waardenburg Syndrome, Type 2a 48 7.882
32
c MSM022 Mismatch Repair Cancer Syndrome 1 69 7.759
33
TTZ003 Tietz Albinism-Deafness Syndrome 59 7.497
34
SPN009 Spindle Cell Rhabdomyosarcoma 39 7.480
35
MGC001 Megacolon 48 7.365
36
DSM007 Desmoplastic Small Round Cell Tumor 54 6.833
37
P BTR001 Botryoid Rhabdomyosarcoma 36 6.693
38
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 41 6.661
39
c WRD020 Waardenburg Syndrome, Type 4a 49 6.661
40
c WRD019 Waardenburg Syndrome, Type 4b 46 6.623
41
c WRD022 Waardenburg Syndrome, Type 2d 34 6.623
42
ECT002 Ectomesenchymoma 32 6.623
43
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50 6.573
44
c WRD024 Waardenburg Syndrome, Type 4c 42 6.573
45
MSC190 Muscular Disease 36 6.573
46
PRM208 Parameningeal Embryonal Rhabdomyosarcoma 31 6.453
47
BSL036 Basal Cell Nevus Syndrome 73 6.453
48
P ORF002 Orofacial Cleft 43 6.453
49
P RTN008 Retinitis Pigmentosa 79 6.453
50
PHY002 Physical Disorder 40 6.453
51
CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 23 6.453
52
CLR015 Clear Cell Basal Cell Carcinoma 41 6.453
53
SYN008 Synovium Cancer 25 6.453
54
CNT021 Central Nervous System Rhabdomyosarcoma 18 6.453
55
BRS031 Breast Rhabdomyosarcoma 30 6.453
56
ORB002 Orbit Embryonal Rhabdomyosarcoma 30 6.453
57
ORB011 Orbit Rhabdomyosarcoma 34 6.453
58
CNV003 Conventional Fibrosarcoma 31 6.453
59
CHR088 Chronic Inflammation of Lacrimal Passage 28 6.453
60
DCR002 Dacryocystocele 36 6.453
61
c BRN108 Branchiootic Syndrome 1 63 4.613
62
SFT003 Soft Tissue Sarcoma 43 4.408
63
P GST053 Gastric Cancer 82 3.362
64
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.140
65
c DPH024 Diaphragmatic Hernia, Congenital 63 3.047
66
GLM045 Glioma 62 2.923
67
GLL048 Glial Tumor 51 2.917
68
HLX001 Helix Syndrome 47 2.694
69
P MSC005 Muscular Dystrophy 66 2.599
70
SPN035 Spindle Cell Sarcoma 51 2.507
71
SRC014 Sarcoma 64 2.507
72
P NRB001 Neuroblastoma 66 2.371
73
OST159 Osteogenic Sarcoma 66 2.363
74
SVR004 Severe Combined Immunodeficiency 70 2.153
75
EXN003 Exencephaly 30 2.104
76
CTT001 Catatrichy 14 1.998
77
P SKN015 Skin Carcinoma 71 1.920
78
CNT061 Conotruncal Heart Malformations 66 1.825
79
HTR005 Heterochromia Iridis 22 1.698
80
CLF027 Cleft Palate, Isolated 64 1.665
81
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.650
82
ESP021 Esophageal Cancer 84 1.642
83
GST103 Gastric Cancer, Hereditary Diffuse 68 1.642
84
SML009 Small Intestine Adenocarcinoma 57 1.642
85
GST040 Gastric Adenocarcinoma 66 1.642
86
HGH043 High Grade Glioma 46 1.618
87
PLY150 Polykaryocytosis Inducer 29 1.591
88
HYP066 Hyperglycemia 60 1.562
89
GLB002 Glioblastoma 67 1.465
90
SKN019 Skin Melanoma 70 1.461
91
P OVR042 Ovarian Cancer 88 1.459
92
P PRS040 Prostate Cancer 95 1.459
93
c DWL002 Dowling-Degos Disease 1 58 1.428
94
PRX085 Preaxial Hallucal Polydactyly 28 1.326
95
ANN002 Anencephaly 57 1.321
96
DFF039 Diffuse Midline Glioma, H3 K27m-Mutant 47 1.321
97
ALB002 Albinism 46 1.321
98
MSC157 Muscular Dystrophy, Duchenne Type 78 1.290
99
P MSC003 Muscular Atrophy 52 1.290
100
c PRC016 Pre-Eclampsia 64 1.239
101
NRL005 Neurilemmoma 60 1.231
102
HYP266 Hypoxia 56 1.220
103
DBL002 Double Outlet Right Ventricle 56 1.201
104
P HMN036 Hemangiopericytoma, Malignant 56 1.183
105
MLN065 Melanocytic Nevus Syndrome, Congenital 62 1.161
106
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 1.118
107
P HYD006 Hydrocephalus 62 1.104
108
P SCL018 Scoliosis 57 1.044
109
IDP070 Idiopathic Scoliosis 41 1.044
110
P SCL057 Scoliosis, Isolated 1 40 1.044
111
47X002 47,xyy 47 1.028
112
DPH001 Diphtheria 59 0.993
113
CLL001 Cellular Schwannoma 29 0.993
114
SPN034 Spindle Cell Synovial Sarcoma 21 0.993
115
MNP001 Monophasic Synovial Sarcoma 28 0.993
116
BRN028 Brain Cancer 73 0.993
117
MLG041 Malignant Triton Tumor 33 0.993
118
CLF001 Cleft Lip 54 0.993
119
P SPN237 Spina Bifida Aperta 19 0.993
120
c WRD029 Waardenburg Syndrome, Type 2b 28 0.983
121
P MCR010 Microcephaly 59 0.974
122
EMB004 Embryonal Carcinoma 55 0.955
123
OVR094 Ovarian Epithelial Cancer 39 0.955
124
CNG034 Congestive Heart Failure 69 0.934
125
TRC022 Tricuspid Valve Insufficiency 46 0.934
126
OBS004 Obstructive Hydrocephalus 44 0.934
127
c CNG216 Congenital Hydrocephalus 50 0.934
128
P HYP265 Hypotonia 42 0.934
129
ATM095 Autoimmune Disease 61 0.912
130
P EYD002 Eye Disease 57 0.912
131
THY029 Thyroid Carcinoma 55 0.912
132
c WLM013 Wilms Tumor 1 65 0.889
133
HYP748 Hypertelorism 46 0.889
134
SKL002 Skeletal Muscle Neoplasm 25 0.889
135
SYS071 Systemic Autoimmune Disease 35 0.889
136
P BRS047 Breast Cancer 97 0.883
137
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.863
138
CRV035 Cervical Cancer 72 0.863
139
LWG006 Low Grade Glioma 41 0.863
140
P EMR001 Emery-Dreifuss Muscular Dystrophy 62 0.863
141
VLC001 Velocardiofacial Syndrome 57 0.835
142
TLC001 Telecanthus 34 0.835
143
P VSC007 Vascular Disease 62 0.835
144
P HRD008 Hereditary Hemorrhagic Telangiectasia 64 0.835
145
TLN003 Telangiectasis 51 0.835
146
P ENC008 Encephalocele 46 0.835
147
HYP855 Hyperpigmentation of the Skin 25 0.835
148
XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 48 0.835
149
P ATS364 Autism 72 0.802
150
SPT006 Septooptic Dysplasia 62 0.802
151
c RTN041 Retinitis Pigmentosa 11 43 0.802
152
P ECL001 Eclampsia 52 0.802
153
c DFN107 Deafness, Autosomal Dominant 10 40 0.764
154
HMC014 Homocysteinemia 52 0.764
155
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.764
156
P LKM002 Leukemia 65 0.764
157
P RTN022 Retinal Vein Occlusion 54 0.764
158
P PRP019 Peripheral Nervous System Disease 57 0.764
159
BRN026 Branch Retinal Artery Occlusion 41 0.764
160
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 17 0.764
161
P RTN014 Retinal Artery Occlusion 46 0.764
162
P NRP001 Neuropathy 59 0.764
163
P HRP006 Herpes Simplex 65 0.764
164
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66 0.714
165
DGR001 Digeorge Syndrome 62 0.714
167
P DMY001 Demyelinating Polyneuropathy 41 0.714
168
P LKD001 Leukodystrophy 58 0.714
169
c CNG112 Congenital Muscular Dystrophy Type 1a 32 0.714
170
P DYS021 Dysautonomia 38 0.714
171
P PNC035 Pancreatic Cancer 87 0.713
173
INT075 Intracranial Hypertension 52 0.594
174
P LNG032 Lung Cancer 98 0.504
175
P LKM062 Leukemia, Acute Lymphoblastic 69 0.504
176
P FBR017 Fibrosarcoma 55 0.481
177
P RSP003 Respiratory Failure 73 0.417
178
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.381
179
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.361
180
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.361
181
P STR020 Strabismus 56 0.295
182
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 0.295
183
P MYP004 Myopathy 67 0.295
184
P TRT010 Teratoma 50 0.295
185
MCH006 Mechanical Strabismus 40 0.295
186
NRF007 Neurofibroma 63 0.295
187
P RTN024 Retinoblastoma 72 0.269
188
CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 24 0.269
189
c EPL137 Epilepsy, Childhood Absence 6 21 0.269
190
TTH002 Tooth Agenesis 61 0.269
191
ALV005 Alveolar Soft Part Sarcoma 61 0.241
192
c CHR579 Chiari Malformation Type Ii 44 0.241
193
CLB010 Coloboma of Macula 53 0.241
194
MSC007 Muscle Hypertrophy 64 0.241
195
c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28 0.241
196
SPN221 Spina Bifida Occulta 39 0.241
197
P MNN007 Meningocele 39 0.241
198
RHB001 Rhabdoid Cancer 68 0.241
199
SKN016 Skin Disease 63 0.241
200
HPT022 Hepatoblastoma 54 0.241
201
P CHR342 Chiari Malformation 41 0.241
202
EMB007 Embryonal Sarcoma 40 0.241
203
TRM010 Traumatic Brain Injury 50 0.241
204
CLF004 Cleft Lip/palate 56 0.241
205
CHR072 Chordoma 56 0.208
206
CHD001 Chediak-Higashi Syndrome 66 0.208
207
P BCK002 Beckwith-Wiedemann Syndrome 61 0.208
208
GRY004 Graying of Hair, Precocious 7 0.208
209
P BLD134 Bladder Cancer 79 0.208
210
P PLY006 Polydactyly 58 0.208
211
TRD003 Taurodontism 29 0.208
212
P OCL002 Oculocutaneous Albinism 59 0.208
213
P ALB003 Albinism-Deafness Syndrome 33 0.208
214
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.208
215
GST019 Gastrointestinal Stromal Tumor 78 0.208
216
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.208
217
c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27 0.208
218
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.208
219
P GLM040 Glioma Susceptibility 1 70 0.208
220
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.208
221
P VNT002 Ventricular Septal Defect 58 0.208
222
P CRN037 Craniosynostosis 67 0.208
223
MLG169 Malignant Astrocytoma 57 0.208
224
PPL022 Papilloma 53 0.208
225
P LMY004 Leiomyosarcoma 62 0.208
226
HRT011 Heart Septal Defect 49 0.208
227
P HRM001 Hermansky-Pudlak Syndrome 65 0.208
228
P MLT074 Multiple Endocrine Neoplasia 58 0.208
229
P LTR001 Lateral Sclerosis 57 0.208
230
SQM002 Squamous Cell Papilloma 45 0.208
231
NRN001 Neuroendocrine Carcinoma 47 0.208
232
P KLL001 Kallmann Syndrome 65 0.208
233
CHL045 Choline Deficiency Disease 39 0.208
234
TTR011 Tetraploidy 43 0.208
235
CLF056 Cleft Lip with or Without Cleft Palate 43 0.208
236
EXP004 Exophthalmos 50 0.208
237
PLY100 Polyploidy 36 0.208
238
DYS073 Dysphagia 53 0.208
239
WDM004 Wiedemann-Steiner Syndrome 49 0.170
240
OCL008 Oculopharyngeal Muscular Dystrophy 52 0.170
241
PPL048 Papillorenal Syndrome 58 0.170
242
DYS022 Dyschromatosis Symmetrica Hereditaria 49 0.170
243
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.170
244
P PTN014 Patent Ductus Arteriosus 1 59 0.170
245
P SML001 Small Cell Carcinoma 52 0.170
246
ATS010 Autosomal Recessive Disease 42 0.170
247
DRM014 Dermatofibrosarcoma Protuberans 64 0.170
248
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.170
249
MRF001 Marfan Syndrome 76 0.170
250
c PRM212 Primary Microcephaly 40 0.170
251
P ALP004 Alport Syndrome 69 0.170
252
BLP004 Blepharophimosis 36 0.170
253
P LPS002 Liposarcoma 64 0.170
254
c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24 0.170
255
GNG004 Ganglioglioma 53 0.170
256
RCK004 Rickets 64 0.170
257
HYD002 Hydronephrosis 58 0.170
258
PLG004 Plagiocephaly 40 0.170
259
TRP014 Triploidy 38 0.170
260
PST092 Posttransplant Acute Limbic Encephalitis 29 0.170
261
ISL109 Isolated Cleft Lip 33 0.170
262
P OVR082 Overgrowth Syndrome 41 0.170
263
c ATS007 Autism Spectrum Disorder 71 0.120
264
CLT003 Colitis 63 0.120
265
c MJR022 Major Affective Disorder 8 37 0.120
266
ANR009 Aneurysmal Bone Cysts 43 0.120
267
P PTS002 Ptosis 52 0.120
268
LRG014 Large Cell Neuroendocrine Carcinoma 44 0.120
269
c CNG513 Congenital Ptosis 43 0.120
270
MTR088 Mature T-Cell and Nk-Cell Lymphoma 42 0.120
271
ACH004 Achondroplasia 65 0.120
272
APR006 Apert Syndrome 69 0.120
273
MCR037 Macroglossia 44 0.120
274
c MYT021 Myotonic Dystrophy 1 67 0.120
275
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.120
276
DLT018 Dilution, Pigmentary 27 0.120
277
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.120
278
c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54 0.120
279
P PRD006 Prader-Willi Syndrome 60 0.120
280
CRD002 Cri-Du-Chat Syndrome 50 0.120
281
P EPL198 Epilepsy, Myoclonic Juvenile 61 0.120
282
TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 46 0.120
283
ANK020 Ankyloglossia with or Without Tooth Anomalies 45 0.120
284
P MCH002 Machado-Joseph Disease 62 0.120
285
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.120
286
CFF002 Coffin-Lowry Syndrome 59 0.120
287
P CLR023 Colorectal Cancer 100 0.120
288
P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 36 0.120
289
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.120
290
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.120
291
NRL018 Neural Tube Defects, Folate-Sensitive 46 0.120
292
MCR317 Macrophthalmia, Colobomatous, with Microcornea 18 0.120
293
PTR032 Peters-Plus Syndrome 63 0.120
294
AGM019 Agammaglobulinemia, X-Linked 71 0.120
295
AGN016 Aging 53 0.120
296
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 52 0.120
297
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.120
298
P FML011 Familial Adenomatous Polyposis 70 0.120
299
c MJR024 Major Affective Disorder 9 40 0.120
300
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.120
301
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.120
302
c NPH032 Nephronophthisis 4 46 0.120
303
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.120
304
ANG020 Angiosarcoma 63 0.120
305
c FNC032 Fanconi Anemia, Complementation Group B 48 0.120
306
GLY014 Glycerol Kinase Deficiency 48 0.120
307
P CHN012 Chondrosarcoma 56 0.120
308
CRN264 Craniosynostosis with Fibular Aplasia 29 0.120
309
c CRP023 Carpenter Syndrome 1 59 0.120
310
P PLY148 Polydactyly, Preaxial Ii 47 0.120
311
MGL003 Megalocornea 47 0.120
312
P LPR021 Leprosy 3 71 0.120
313
ALP099 Alopecia, Congenital 23 0.120
314
P FRG001 Fragile X Syndrome 70 0.120
315
c MCR115 Microvascular Complications of Diabetes 5 65 0.120
316
c MLN043 Melanoma, Cutaneous Malignant 8 38 0.120
317
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.120
318
c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26 0.120
319
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.120
320
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.120
321
c RTN114 Retinitis Pigmentosa 58 40 0.120
322
CHR492 Chromosome 13q14 Deletion Syndrome 42 0.120
323
BRN003 Branchiooculofacial Syndrome 52 0.120
324
HMF006 Hemifacial Microsomia 55 0.120
325
P HNT016 Huntington Disease 73 0.120
326
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.120
327
P TRC072 Treacher Collins Syndrome 1 62 0.120
328
P PHC003 Pheochromocytoma 70 0.120
329
P HPT023 Hepatocellular Carcinoma 95 0.120
330
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.120
331
SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 28 0.120
332
LNT004 Lentigines 45 0.120
333
ONC007 Oncocytoma 49 0.120
334
FRY006 Fryns Microphthalmia Syndrome 52 0.120
335
LYM040 Lymphoblastic Lymphoma 53 0.120
336
WLD007 Waldenstroem's Macroglobulinemia 59 0.120
337
ADN011 Adenoid Cystic Carcinoma 68 0.120
338
ADR040 Adrenal Gland Pheochromocytoma 45 0.120
339
NTM002 Nut Midline Carcinoma 44 0.120
340
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 0.120
341
MLS013 Miles-Carpenter Syndrome 35 0.120
342
CMB007 Combined Immunodeficiency 56 0.120
343
PGM003 Pigmentation Disease 45 0.120
344
P PRK039 Parkinsonism 55 0.120
345
FCH001 Fuchs' Endothelial Dystrophy 48 0.120
346
SNN002 Sinonasal Undifferentiated Carcinoma 29 0.120
347
SPP007 Suppression Amblyopia 38 0.120
348
HPT046 Hepatic Veno-Occlusive Disease 54 0.120
349
P BNG013 Benign Breast Phyllodes Tumor 35 0.120
350
PNC001 Pancytopenia 52 0.120
351
GNG005 Gangliocytoma 54 0.120
352
HYP080 Hypogonadism 49 0.120
353
c BSL007 Basal Cell Carcinoma 67 0.120
354
P BNG032 Benign Mesothelioma 53 0.120
355
P EPD016 Epidermolysis Bullosa 53 0.120
356
ATY005 Atypical Teratoid Rhabdoid Tumor 69 0.120
357
INF058 Inflammatory Myofibroblastic Tumor 45 0.120
358
c EPL186 Epilepsy, Juvenile Myoclonic 9 14 0.120
359
c MLG084 Malignant Fibrous Histiocytoma 62 0.120
360
P SPN046 Spinal Muscular Atrophy 62 0.120
361
AMB002 Amblyopia 49 0.120
362
NRN004 Neuroendocrine Tumor 55 0.120
363
P HYP730 Hypogonadotropic Hypogonadism 57 0.120
364
P ISL078 Isolated Ectopia Lentis 58 0.120
365
INT072 Intestinal Pseudo-Obstruction 60 0.120
366
GNG002 Ganglioneuroma 52 0.120
367
P EPD003 Epidermolysis Bullosa Simplex 56 0.120
368
P PLC011 Pilocytic Astrocytoma 55 0.120
369
MYB001 Myoblastoma 28 0.120
370
CLL004 Cellular Myxoid Liposarcoma 30 0.120
371
ISC004 Ischemia 61 0.120
372
P BPL003 Bipolar Disorder 56 0.120
373
P CNJ013 Conjunctivitis 66 0.120
374
P MYP006 Myopia 55 0.120
375
ACT098 Acute Erythroid Leukemia 55 0.120
376
P EPL164 Epilepsy 70 0.120
377
HMP005 Hemiplegia 53 0.120
378
P OVR049 Ovarian Disease 50 0.120
379
P GLM007 Glomerulonephritis 59 0.120
380
P CRN025 Corneal Dystrophy 49 0.120
381
P AGM001 Agammaglobulinemia 67 0.120
382
GRM005 Germ Cell Cancer 46 0.120
383
P PLM036 Pulmonary Fibrosis 65 0.120
384
MRK001 Merkel Cell Carcinoma 64 0.120
385
ERL001 Early Myoclonic Encephalopathy 62 0.120
386
P SML002 Small Cell Sarcoma 22 0.120
387
HMT002 Hematologic Cancer 61 0.120
388
PRS043 Prostate Rhabdomyosarcoma 30 0.120
389
MDD011 Mood Disorder 61 0.120
390
P CNG001 Congenital Myasthenic Syndrome 68 0.120
391
GTR002 Goiter 52 0.120
392
GST033 Gestational Diabetes 60 0.120
393
P CHR071 Charcot-Marie-Tooth Disease 64 0.120
394
c ACT073 Acute Leukemia 59 0.120
395
P NTR004 Neutropenia 62 0.120
396
CRB004 Cerebral Artery Occlusion 45 0.120
397
P EPT012 Epithelioid Sarcoma 41 0.120
398
P RNL017 Renal Oncocytoma 54 0.120
399
P MST009 Mastocytosis 64 0.120
400
MYL003 Myeloid Sarcoma 48 0.120
401
CHL010 Childhood Kidney Cell Carcinoma 39 0.120
402
STR009 Stromal Predominant Kidney Wilms' Tumor 8 0.120
403
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.120
404
ULC004 Ulcerative Colitis 74 0.120
405
c CNG023 Congenital Fibrosarcoma 42 0.120
406
CRN088 Craniorachischisis 35 0.120
407
HNS001 Hansen's Disease 32 0.120
408
HYP213 Hypomelanotic Disorder 23 0.120
409
c NNS007 Nonsyndromic Deafness 36 0.120
410
CRT015 Carotid Artery Occlusion 45 0.120
411
GRM010 Germ Cells Tumors 33 0.120
412
P SZR006 Seizure Disorder 69 0.120
413
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.120
414
P ALP008 Alopecia 53 0.120
415
ART030 Aortic Arch Interruption 25 0.120
416
RRS004 Rare Systemic Disease 12 0.120
417
c WRD010 Waardenburg Syndrome Type 4 31 0.120
418
PST103 Postpartum Psychosis 31 0.120
419
MCR103 Microtia 40 0.120
420
CNG506 Congenital Amyoplasia 27 0.120
421
HYP854 Hypopigmentation of the Skin 22 0.120
422
P RRT020 Rare Tumor 39 0.120
423
CRN051 Craniofacial Microsomia 28 0.120
424
c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 26 0.120
425
OCC011 Occipital Encephalocele 27 0.120
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