Search results for ring chromosomes

832 hits were found for ring chromosomes

# Family MCID Name MIFTS Score
1
c RNG029 Ring Chromosome 14 Syndrome 21 5.299
2
c RNG016 Ring Chromosome 20 24 5.286
3
c RNG014 Ring Chromosome 19 13 4.128
4
c RNG010 Ring Chromosome 15 26 3.958
5
c RNG013 Ring Chromosome 18 20 3.954
6
c RNG017 Ring Chromosome 21 23 3.946
7
c RNG018 Ring Chromosome 22 20 3.921
8
c RNG008 Ring Chromosome 13 30 3.919
9
c RNG023 Ring Chromosome 7 37 3.905
10
c RNG025 Ring Chromosome 9 15 3.861
11
c RNG004 Ring Chromosome 1 33 3.838
12
c RNG007 Ring Chromosome 12 23 3.829
13
c RNG005 Ring Chromosome 10 20 3.829
14
c RNG022 Ring Chromosome 6 23 3.546
15
c RNG012 Ring Chromosome 17 15 3.496
16
c RNG024 Ring Chromosome 8 16 3.490
17
c RNG020 Ring Chromosome 4 32 3.160
18
c RNG015 Ring Chromosome 2 21 3.110
19
c RNG006 Ring Chromosome 11 16 3.105
20
c RNG021 Ring Chromosome 5 17 3.089
21
c RNG011 Ring Chromosome 16 14 3.088
22
c RNG019 Ring Chromosome 3 16 3.083
23
CHR540 Chromosome 8-Derived Supernumerary Ring /marker 14 3.051
24
P RNG028 Ring Chromosome Y 16 1.617
25
P LKM002 Leukemia 71 0.242
26
P ADN016 Adenocarcinoma 69 0.204
27
P LYM118 Lymphoma 69 0.143
28
RFR010 Refractory Anemia 45 0.141
29
P EPL164 Epilepsy 66 0.137
30
P KRT007 Keratoconus 48 0.120
31
P MYL006 Myeloid Leukemia 66 0.120
32
P BRS047 Breast Cancer 100 0.119
33
PRS047 Prostatitis 56 0.111
34
MYL009 Myelodysplastic Syndrome 73 0.108
35
THR004 Thrombocytosis 55 0.103
36
P CTR002 Cataract 58 0.100
37
P LYM026 Lymphoblastic Leukemia 62 0.097
38
RTN023 Retinitis 50 0.097
39
MLN008 Melanoma 62 0.096
40
P INF032 Infertility 59 0.094
41
P THY032 Thyroiditis 54 0.092
42
P MCR010 Microcephaly 58 0.090
43
AZS001 Azoospermia 44 0.088
44
GST053 Gastric Cancer 78 0.088
45
P INT063 Intellectual Disability 49 0.087
46
P ESP024 Esophagitis 61 0.086
47
DWN001 Down Syndrome 66 0.083
48
ADN018 Adenoma 58 0.079
49
RGH006 Right Aortic Arch 27 0.078
50
P CLR023 Colorectal Cancer 97 0.077
51
P OBS005 Obesity 92 0.077
52
P BCL006 B-Cell Lymphomas 65 0.077
53
P LNG032 Lung Cancer 95 0.076
54
P TRN020 Turner Syndrome 65 0.076
55
P ATX004 Ataxia 53 0.076
56
SRC014 Sarcoma 66 0.074
57
P PNC044 Pancreatitis 61 0.074
58
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.072
59
P HPT021 Hepatitis 69 0.072
60
P RTN008 Retinitis Pigmentosa 80 0.072
61
ALR002 Al-Raqad Syndrome 36 0.071
62
P ANR002 Aniridia 64 0.070
63
NRN002 Neuronitis 41 0.069
64
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.069
65
P NRB001 Neuroblastoma 70 0.069
66
HV1006 Hiv-1 80 0.069
67
GST040 Gastric Adenocarcinoma 52 0.068
68
SQM006 Squamous Cell Carcinoma 70 0.068
69
P GND004 Gonadal Dysgenesis 51 0.067
70
P SCH015 Schizophrenia 77 0.067
71
MCN001 Mucinous Adenocarcinoma 50 0.066
72
c ACT073 Acute Leukemia 60 0.066
73
FML039 Female Reproductive System Disease 48 0.065
74
P PRS040 Prostate Cancer 90 0.064
75
P HLP001 Holoprosencephaly 63 0.063
76
P NRF002 Neurofibromatosis 71 0.061
77
P MYP004 Myopathy 67 0.061
78
P SLV001 Silver-Russell Syndrome 54 0.060
79
WLF002 Wolf-Hirschhorn Syndrome 49 0.060
80
P HRT032 Heart Disease 75 0.060
81
END072 Endotheliitis 42 0.060
82
P CRV039 Cervicitis 45 0.060
83
MLN007 Male Infertility 55 0.060
84
P OVR042 Ovarian Cancer 76 0.059
85
P SDR003 Sideroblastic Anemia 40 0.059
86
P GLB002 Glioblastoma 68 0.059
87
AND005 Androgen Insensitivity Syndrome, Mild 16 0.059
88
EYD002 Eye Disease 61 0.059
89
P MSC005 Muscular Dystrophy 65 0.059
90
RPR002 Reproductive System Disease 41 0.057
91
P RTN024 Retinoblastoma 74 0.057
92
CTY001 Cat Eye Syndrome 43 0.057
93
P ACT074 Acute Lymphocytic Leukemia 56 0.057
94
ACQ007 Acquired Immunodeficiency Syndrome 60 0.057
95
DRM014 Dermatofibrosarcoma Protuberans 61 0.057
96
CRD002 Cri-Du-Chat Syndrome 48 0.057
97
c MNS008 Monosomy 21 25 0.056
98
VGN023 Vaginitis 42 0.056
99
MYL031 Myeloproliferative Neoplasm 58 0.056
100
ANR040 Aneurysm 57 0.054
101
c CHR090 Chronic Lymphocytic Leukemia 76 0.053
102
DMN002 Dementia 65 0.053
103
ETH011 Ethylmalonic Encephalopathy 56 0.052
104
c BSL007 Basal Cell Carcinoma 65 0.052
105
P HPT023 Hepatocellular Carcinoma 92 0.051
106
P AST005 Asthma 82 0.051
107
P TRT010 Teratoma 52 0.051
108
STT001 Status Epilepticus 59 0.051
109
P GLM045 Glioma 60 0.051
110
P ANG001 Angelman Syndrome 61 0.051
111
THR024 Thrombosis 57 0.050
112
P PTN002 Patent Ductus Arteriosus 52 0.050
113
c MTR002 Mitral Valve Insufficiency 44 0.050
114
P ART022 Arthritis 75 0.050
115
P SYN001 Syndactyly 53 0.050
116
RNG030 Ringed Hair 20 0.050
117
P NRP001 Neuropathy 59 0.050
118
P DGR001 Digeorge Syndrome 53 0.050
119
XLN215 X-Linked Congenital Generalized Hypertrichosis 16 0.050
120
WLS001 Wilson Disease 72 0.048
121
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.048
122
JCB001 Jacobsen Syndrome 48 0.048
123
HPT074 Hepatic Adenoma, Somatic 50 0.048
124
P PRD006 Prader-Willi Syndrome 62 0.047
125
P HYP265 Hypotonia 38 0.047
126
P HYP086 Hypothyroidism 64 0.047
127
P ATX030 Ataxia-Telangiectasia 77 0.047
128
NRL016 Neural Tube Defects 76 0.047
129
P CRD011 Cardiomyopathy 68 0.047
130
P CRN015 Cornelia De Lange Syndrome 62 0.046
131
LMY002 Leiomyoma 54 0.046
132
RHB003 Rhabdomyosarcoma 57 0.046
133
KRT004 Keratitis 71 0.046
134
CRN009 Corneal Ectasia 26 0.046
135
GLB003 Globe Disease 32 0.046
136
SMT008 Smith-Magenis Syndrome 52 0.046
137
CHR008 Choroiditis 44 0.046
138
BNM001 Bone Marrow Cancer 51 0.046
139
P EPN002 Ependymoma 53 0.046
140
P MYP006 Myopia 56 0.046
141
CRN024 Corneal Disease 44 0.046
142
P DYS154 Dystonia 65 0.045
143
P HYP040 Hypospadias 57 0.045
144
P PLY014 Polycystic Kidney Disease 53 0.045
145
GND001 Gonadoblastoma 41 0.045
146
MRG013 Mirage Syndrome 29 0.045
147
CHR177 Chromophobe Renal Cell Carcinoma 56 0.045
148
P CRN211 Coronary Artery Disease 74 0.045
149
P OLG002 Oligodendroglioma 56 0.045
150
P PNC035 Pancreatic Cancer 87 0.045
151
P INF037 Inflammatory Bowel Disease 63 0.045
152
PRT036 Peritonitis 63 0.045
153
DDN006 Duodenitis 42 0.045
154
CLT003 Colitis 60 0.044
155
ART111 Artery Disease 55 0.044
156
MCR013 Microphthalmia 60 0.044
157
HMT018 Hematopoietic Stem Cell Transplantation 41 0.043
158
DFF005 Diffuse Large B-Cell Lymphoma 59 0.043
159
ACR041 Acromelic Frontonasal Dysostosis 45 0.043
160
BRT030 Birth Defects 43 0.043
161
HNM002 Hinman Syndrome 25 0.043
162
P CHN012 Chondrosarcoma 56 0.043
163
CHR285 Chronic Myelomonocytic Leukemia 56 0.043
164
P MXD016 Mixed Gonadal Dysgenesis 34 0.043
165
P RBN001 Rubinstein-Taybi Syndrome 64 0.042
166
P AST007 Astrocytoma 65 0.042
167
P MLT074 Multiple Endocrine Neoplasia 56 0.042
168
DRM006 Dermatitis 66 0.042
169
TRN018 Transitional Cell Carcinoma 53 0.042
170
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.042
171
STM006 Stomach Disease 50 0.042
172
PRM025 Primary Bacterial Infectious Disease 41 0.042
173
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.042
174
CHR518 Chromosome 9p Deletion Syndrome 30 0.042
175
ING001 Inguinal Hernia 58 0.042
176
DYS073 Dysphagia 48 0.042
177
P CRN178 Coronary Heart Disease 6 21 0.042
178
P HML002 Hemolytic Anemia 62 0.041
179
SYN005 Synostosis 46 0.041
180
LPM004 Lipoma 60 0.041
181
ANN002 Anencephaly 54 0.041
182
P BPL003 Bipolar Disorder 62 0.041
183
NTR005 Nutritional Deficiency Disease 36 0.041
184
c CRN172 Coronary Heart Disease 3 19 0.041
185
P MNC007 Monocytic Leukemia 55 0.040
186
WLL006 Wells Syndrome 59 0.040
187
CSY001 C Syndrome 50 0.040
188
CNR002 Cone-Rod Dystrophy 64 0.040
189
GST019 Gastrointestinal Stromal Tumor 73 0.040
190
P RHM011 Rheumatoid Arthritis 89 0.040
191
P KDN018 Kidney Disease 66 0.040
192
P ESS003 Essential Thrombocythemia 70 0.039
193
TBR010 Tuberculosis 70 0.039
194
CHL071 Child Syndrome 58 0.039
195
KDS001 Kid Syndrome 53 0.039
196
CRN025 Corneal Dystrophy 42 0.039
197
P OST012 Osteoarthritis 83 0.039
198
P TCL004 T-Cell Leukemia 47 0.039
199
P RNL017 Renal Oncocytoma 47 0.039
200
CRB009 Cerebritis 39 0.039
201
MSC020 Mosaic Trisomy 8 28 0.039
202
GRW007 Growth Hormone Deficiency 50 0.039
203
ESP021 Esophageal Cancer 76 0.038
204
BNS002 Bone Structure Disease 37 0.038
205
P ATR011 Atrial Fibrillation 66 0.038
206
P HYP024 Hypoparathyroidism 53 0.038
207
P LSS002 Lissencephaly 49 0.038
208
P SML001 Small Cell Carcinoma 56 0.038
209
c ORF040 Orofaciodigital Syndrome Viii 48 0.038
210
P FBR031 Febrile Seizures 53 0.037
211
P ENC018 Encephalopathy 59 0.037
212
DXT001 Dextrocardia 43 0.037
213
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.037
214
ATP002 Atopy 66 0.037
215
MLR007 Male Reproductive System Disease 34 0.037
216
AMN001 Amenorrhea 50 0.037
217
CNG108 Congenital Mitral Stenosis 18 0.036
218
P PLY006 Polydactyly 56 0.036
219
c SPR009 Sporadic Breast Cancer 47 0.036
220
PRM243 Primary Bone Cancer 29 0.036
221
GST092 Gastroesophageal Reflux 62 0.036
222
P SNS014 Sinusitis 60 0.036
223
GDS001 Good Syndrome 44 0.036
224
ULC004 Ulcerative Colitis 76 0.036
225
P SCK004 Seckel Syndrome 54 0.036
226
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 26 0.036
227
P END044 Endometriosis 66 0.036
228
ALP008 Alopecia 57 0.036
229
c SYS001 Systemic Lupus Erythematosus 86 0.036
230
P LPS004 Lupus Erythematosus 64 0.036
231
c CHR565 Chromosomal Deletion Syndrome 27 0.036
232
c NRF018 Neurofibromatosis, Type 1 67 0.035
233
c HPT016 Hepatitis B 64 0.035
234
P HMP007 Hemophilia 57 0.035
235
ORL015 Oral Squamous Cell Carcinoma 57 0.035
236
CYS001 Cystic Fibrosis 83 0.035
237
P PSR002 Psoriasis 61 0.035
238
PLS016 Plasma Cell Leukemia 42 0.035
239
VND001 Vein Disease 47 0.035
240
P PNM007 Pneumonia 68 0.035
241
P THY023 Thymoma 57 0.035
242
SXL003 Sexual Disorder 42 0.035
243
PNC118 Pancreas, Annular 36 0.035
244
P PRK001 Porokeratosis 45 0.034
245
INS024 Insulin-Like Growth Factor I 75 0.034
246
MRF001 Marfan Syndrome 73 0.034
247
PRP036 Peripheral T-Cell Lymphoma 45 0.034
248
P MYS005 Myositis 57 0.034
249
PRC013 Pericarditis 51 0.034
250
CRT028 Cor Triatriatum 22 0.034
251
EWN003 Ewing Sarcoma 66 0.034
252
P HYD006 Hydrocephalus 66 0.034
253
P PRC019 Precocious Puberty 51 0.034
254
MGC001 Megacolon 45 0.034
255
P MYM002 Moyamoya Disease 61 0.034
256
MRG003 Marginal Zone B-Cell Lymphoma 52 0.034
257
CRB045 Cerebellar Hypoplasia 48 0.034
258
OLG001 Oligospermia 36 0.034
259
CRY002 Cryptorchidism 60 0.033
260
ANM029 Anemia, Sideroblastic, X-Linked 48 0.033
261
MLB001 Mulibrey Nanism 43 0.033
262
MLR004 Malaria 83 0.033
263
P CLC005 Celiac Disease 68 0.033
264
P PNC025 Panic Disorder 60 0.033
265
PRS039 Prostate Adenocarcinoma 46 0.033
266
INC022 Inclusion-Cell Disease 46 0.033
267
ALB002 Albinism 46 0.033
268
c CHR020 Chronic Interstitial Cystitis 41 0.033
269
PCK002 Pick Disease 68 0.033
270
P HRP006 Herpes Simplex 65 0.033
271
OPT037 Optic Nerve Hypoplasia 52 0.033
272
c LRG001 Large Cell Carcinoma 51 0.033
273
c CNT075 Central Precocious Puberty 49 0.033
274
DDN011 Duodenal Atresia 37 0.033
275
SCR024 Sacrococcygeal Teratoma 27 0.033
276
XSM001 X Small Rings 17 0.033
277
P MYC007 Myocardial Infarction 79 0.033
278
BLP004 Blepharophimosis 38 0.033
279
THY028 Thyroid Cancer 69 0.032
280
BNC003 Bone Cancer 58 0.032
281
P PRD008 Periodontitis 63 0.032
282
c MLG077 Malignant Peripheral Nerve Sheath Tumor 56 0.032
283
P TRC086 Trichohepatoenteric Syndrome 1 48 0.032
284
SXD001 Sex Differentiation Disease 38 0.032
285
ANX002 Anxiety Disorder 67 0.031
286
OST017 Osteomyelitis 61 0.031
287
RTN017 Retinal Detachment 56 0.031
288
P LCH002 Lichen Planus 53 0.031
289
TRC062 Tricuspid Atresia 43 0.031
290
SPC003 Specific Developmental Disorder 38 0.031
291
WTH001 Withdrawal Disorder 37 0.031
292
AST002 Astroblastoma 31 0.031
293
P LRY019 Laryngitis 54 0.031
294
P NNT009 Neonatal Diabetes Mellitus 52 0.031
295
TNP003 Tn Polyagglutination Syndrome, Somatic 41 0.031
296
47X001 47,xyy Syndrome 33 0.031
297
c PTR018 Paternal Uniparental Disomy of Chromosome 6 14 0.031
298
CNN005 Connective Tissue Disease 62 0.031
299
P GST049 Gastrointestinal System Cancer 60 0.031
300
RHM027 Rheumatic Disease 58 0.031
301
ACT049 Acute Disseminated Encephalomyelitis 49 0.031
302
SKN023 Skin Tag 44 0.031
303
KRT008 Keratopathy 44 0.031
304
CNS002 Constrictive Pericarditis 34 0.031
305
IRS003 Iris Disease 31 0.031
306
CRN022 Corneal Degeneration 28 0.031
307
c KRT029 Keratoconus 1 26 0.031
308
DYS135 Dysphagia Lusoria 15 0.031
309
c NRF019 Neurofibromatosis, Type 2 62 0.031
310
P EPS003 Episodic Ataxia 57 0.031
311
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 54 0.031
312
ATY005 Atypical Teratoid Rhabdoid Tumor 52 0.031
313
P PTT014 Pitt-Hopkins Syndrome 47 0.031
314
RNL025 Renal Hypoplasia 42 0.031
315
FRY002 Fryns Syndrome 37 0.031
316
P MYL005 Myelofibrosis 67 0.031
317
P THR014 Thrombocytopenia 64 0.031
318
P HMC003 Hemochromatosis 72 0.030
319
P FML011 Familial Adenomatous Polyposis 68 0.030
320
P PLY011 Polycystic Ovary Syndrome 65 0.030
321
GNG013 Gingivitis 61 0.030
322
INT079 Intrahepatic Cholangiocarcinoma 56 0.030
323
P OCL002 Oculocutaneous Albinism 54 0.030
324
GTR002 Goiter 52 0.030
325
P ATR001 Atrioventricular Septal Defect 52 0.030
326
MGL001 Megaloblastic Anemia 50 0.030
327
P WLL002 Weill-Marchesani Syndrome 47 0.030
328
P CNG003 Congenital Dyserythropoietic Anemia 40 0.030
329
CRB026 Cerebellar Astrocytoma 37 0.030
330
BLT001 Bilateral Retinoblastoma 37 0.030
331
PNS015 Penoscrotal Transposition 20 0.030
332
ALP001 Alopecia Universalis 58 0.030
333
DSS008 Disease of Mental Health 52 0.030
334
MYC002 Mycobacterium Avium Complex Disease 52 0.030
335
P CHL066 Cholangitis 42 0.030
336
CYS009 Cystadenoma 40 0.030
337
PRS037 Periostitis 30 0.030
338
c CRN175 Coronary Heart Disease 4 19 0.030
339
PTZ001 Peutz-Jeghers Syndrome 71 0.029
340
ATH003 Atherosclerosis 65 0.029
341
PTR006 Peters Anomaly 65 0.029
342
P THL005 Thalassemia 64 0.029
343
P PRG013 Paraganglioma 54 0.029
344
PLL008 Pallister-Killian Syndrome 31 0.029
345
MDD011 Mood Disorder 61 0.029
346
P VNT002 Ventricular Septal Defect 60 0.029
347
MRB003 Morbid Obesity 58 0.029
348
WST001 West Syndrome 57 0.029
349
P OVR049 Ovarian Disease 56 0.029
350
c ART101 Aortic Valve Disease 2 53 0.029
351
P FTL001 Fetal Alcohol Syndrome 53 0.029
352
P PNC001 Pancytopenia 52 0.029
353
ESP020 Esophageal Atresia 50 0.029
354
CHN010 Chondroma 42 0.029
355
CHN004 Chondroblastoma 40 0.029
356
INT221 Intravascular Large B-Cell Lymphoma 38 0.029
357
P UTR038 Uterine Disease 37 0.029
358
NSY001 N Syndrome 36 0.029
359
c PLN017 Peeling Skin Syndrome 1 34 0.029
360
OST006 Osteoblastoma 31 0.029
361
MNT014 Mental Retardation Epilepsy 22 0.029
362
HDG012 Hodgkin Lymphoma 77 0.028
363
END057 Endometrial Cancer 75 0.028
364
MLG056 Malignant Hyperthermia 58 0.028
365
PLS011 Plasmacytoma 56 0.028
366
SMN007 Seminoma 45 0.028
367
GST014 Gastrointestinal Lymphoma 31 0.028
368
P ART023 Arthropathy 64 0.028
369
P ENC004 Encephalitis 63 0.028
370
QFV001 Q Fever 60 0.028
371
NRN004 Neuroendocrine Tumor 56 0.028
372
TRM010 Traumatic Brain Injury 52 0.028
373
MCP006 Mucoepidermoid Carcinoma 48 0.028
374
HYD005 Hydrocele 46 0.028
375
STR072 Stromal Keratitis 46 0.028
376
P PLN008 Peeling Skin Syndrome 45 0.028
377
PRN011 Pernicious Anemia 44 0.028
378
GLC008 Glucose Metabolism Disease 42 0.028
379
VHW001 Vohwinkel Syndrome 41 0.028
380
URT001 Urethritis 41 0.028
381
GRN022 Granulosa Cell Tumor of the Ovary 38 0.028
382
c TRC078 Trichohepatoenteric Syndrome 2 29 0.028
383
c SYN060 Syndactyly, Type Iii 27 0.028
384
CNG361 Congenital Supravalvular Mitral Ring 4 0.028
385
P ALG002 Alagille Syndrome 72 0.027
386
TTR001 Tetralogy of Fallot 71 0.027
387
BRK010 Burkitt Lymphoma 69 0.027
388
PNC041 Pancreatic Ductal Adenocarcinoma 64 0.027
389
P CLR108 Colorectal Adenoma 60 0.027
390
HYP080 Hypogonadism 53 0.027
391
OLV001 Olivopontocerebellar Atrophy 53 0.027
392
CHR286 Chronic Neutrophilic Leukemia 43 0.027
393
GLC077 Glucocorticoid Therapy, Response to 16 0.027
394
OTT002 Otitis Media 66 0.027
395
P ALP009 Alopecia Areata 62 0.027
396
P GLM007 Glomerulonephritis 59 0.027
397
c FML001 Familial Atrial Fibrillation 58 0.027
398
MRK001 Merkel Cell Carcinoma 52 0.027
399
c CLL013 Cell Type Cancer 46 0.027
400
LKC003 Leukocyte Disease 43 0.027
401
HYP691 Hypomelanosis of Ito 42 0.027
402
BLD130 Bladder Exstrophy 42 0.027
403
PLM020 Pleomorphic Xanthoastrocytoma 42 0.027
404
P CYS017 Cystic Teratoma 40 0.027
405
ADN002 Adenoiditis 39 0.027
406
HMN016 Hemangioendothelioma 39 0.027
407
c BRC081 Brachydactyly, Type C 37 0.027
408
LNG054 Lung Agenesis 32 0.027
409
c CRN214 Coronary Heart Disease 5 22 0.027
410
ACQ031 Acquired Idiopathic Sideroblastic Anemia 21 0.027
411
CLB009 Coloboma of Iris 18 0.027
412
SVR004 Severe Combined Immunodeficiency 69 0.026
413
SKN016 Skin Disease 66 0.026
414
P OST002 Osteoporosis 64 0.026
415
HRY003 Hairy Cell Leukemia 57 0.026
416
PTT006 Pituitary Adenoma 56 0.026
417
NRF007 Neurofibroma 53 0.026
418
ALN001 Aland Island Eye Disease 45 0.026
419
GND003 Gonadal Disease 39 0.026
420
P INF038 Influenza 72 0.026
421
P MNN013 Meningitis 67 0.026
422
P NTR004 Neutropenia 59 0.026
423
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.026
424
P UVT001 Uveitis 58 0.026
425
CTS003 Coats Disease 57 0.026
426
P SZR006 Seizure Disorder 56 0.026
427
CND002 Conduct Disorder 54 0.026
428
P CRV031 Cervical Adenocarcinoma 53 0.026
429
BRN071 Brain Injury 52 0.026
430
P AGG001 Aggressive Periodontitis 50 0.026
431
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.026
432
MNR002 Meniere's Disease 48 0.026
433
P OST028 Osteochondroma 47 0.026
434
NDL007 Nodular Goiter 46 0.026
435
P LRG014 Large Cell Neuroendocrine Carcinoma 41 0.026
436
P KNN002 Kenny-Caffey Syndrome 41 0.026
437
c LTH007 Lethal Congenital Contracture Syndrome 1 38 0.026
438
MCK002 Meckel's Diverticulum 35 0.026
439
ADP007 Adie Pupil 34 0.026
440
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.026
441
ATY003 Atypical Autism 29 0.026
442
ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 17 0.026
443
EPG004 Epignathus 17 0.026
444
DCH001 Duchenne Muscular Dystrophy 79 0.025
445
P KDN017 Kidney Cancer 65 0.025
446
INC021 Incontinentia Pigmenti 59 0.025
447
HYP266 Hypoxia 56 0.025
448
P SCL018 Scoliosis 55 0.025
449
PPL022 Papilloma 55 0.025
450
PLM014 Pleomorphic Adenoma 52 0.025
451
P MLT007 Multiple Epiphyseal Dysplasia 50 0.025
452
PLS009 Plasma Cell Neoplasm 48 0.025
453
HYP064 Hypogonadotropism 37 0.025
454
ACR002 Acrocapitofemoral Dysplasia 33 0.025
455
P LPR003 Leprosy 69 0.024
456
PSY004 Psychotic Disorder 67 0.024
457
P AMY004 Amyloidosis 65 0.024
458
c HMP004 Hemophilia B 62 0.024
459
RBR001 Roberts Syndrome 60 0.024
460
P PRP029 Porphyria 59 0.024
461
P CMR001 Camurati-Engelmann Disease 58 0.024
462
P HRS035 Hirschsprung Disease 1 58 0.024
463
KRT009 Keratosis 52 0.024
464
PPL002 Papillary Carcinoma 51 0.024
465
VRC001 Varicocele 51 0.024
466
SPN051 Spondylitis 51 0.024
467
c DWL002 Dowling-Degos Disease 1 49 0.024
468
ATN002 Autonomic Nervous System Disease 48 0.024
469
LPM005 Lipomatosis 47 0.024
470
RLP003 Relapsing Fever 45 0.024
471
PRN038 Prune Belly Syndrome 45 0.024
472
c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45 0.024
473
SKL017 Skeletal Dysplasias 45 0.024
474
c PRM212 Primary Microcephaly 40 0.024
475
BND014 Bone Development Disease 40 0.024
476
c CNG216 Congenital Hydrocephalus 37 0.024
477
P PTT002 Potter's Syndrome 30 0.024
478
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.023
479
P NRV007 Nervous System Disease 71 0.023
480
FBR012 Fabry Disease 69 0.023
481
c HPT001 Hepatitis C 68 0.023
482
LSH001 Leishmaniasis 66 0.023
483
LYM017 Lyme Disease 63 0.023
484
RCT015 Reactive Arthritis 63 0.023
485
GLL018 Gallbladder Cancer 63 0.023
486
CHR063 Chronic Mucocutaneous Candidiasis 63 0.023
487
MTH009 Mouth Disease 61 0.023
488
P SPN052 Spondyloarthropathy 60 0.023
489
CHL123 Chlamydia 60 0.023
490
KRT001 Keratoconjunctivitis Sicca 59 0.023
491
ALC006 Alcoholic Hepatitis 59 0.023
492
PNC034 Pancreas Disease 58 0.023
493
ART017 Aortic Disease 57 0.023
494
c SVR001 Severe Acute Respiratory Syndrome 57 0.023
495
PRC002 Paracoccidioidomycosis 55 0.023
496
MCS002 Mucositis 55 0.023
497
PMS001 Poems Syndrome 52 0.023
498
ALL026 Allergic Hypersensitivity Disease 52 0.023
499
P SPS003 Spastic Diplegia 52 0.023
500
ASP003 Aseptic Meningitis 51 0.023
501
CLR109 Colorectal Adenocarcinoma 51 0.023
502
IMM136 Immune System Disease 51 0.023
503
c KNN009 Kenny-Caffey Syndrome, Type 1 50 0.023
504
P CLL015 Collagen Disease 50 0.023
505
c INF067 Inflammatory Bowel Disease 10 49 0.023
506
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.023
507
ACN001 Acinar Cell Carcinoma 48 0.023
508
P ADM011 Adams-Oliver Syndrome 48 0.023
509
IDP064 Idiopathic Neutropenia 45 0.023
510
EPT020 Epithelioid Hemangioendothelioma 45 0.023
511
c CLR085 Colorectal Cancer 1 45 0.023
512
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 43 0.023
513
DDN010 Duodenum Cancer 43 0.023
514
OLV002 Oliver Syndrome 43 0.023
515
SPN369 Spinal Disease 39 0.023
516
ADJ001 Adjustment Disorder 38 0.023
517
c PNC106 Pancreatic Agenesis 1 37 0.023
518
SML031 Small Cell Carcinoma of the Bladder 37 0.023
519
c RTN090 Retinitis Pigmentosa 55 35 0.023
520
MSC004 Muscle Tissue Disease 34 0.023
521
c EYL003 Eye Lymphoma 30 0.023
522
VHW002 Vohwinkel Syndrome with Ichthyosis 30 0.023
523
c CLR075 Colorectal Cancer 3 28 0.023
524
UNV002 Univentricular Heart 26 0.023
525
CNG134 Congenitally Corrected Transposition of the Great Arteries 24 0.023
526
ATY007 Atypical Follicular Adenoma 24 0.023
527
c CRN174 Coronary Heart Disease 2 20 0.023
528
ARD001 Aredyld 20 0.023
529
ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 16 0.023
530
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 0.023
531
KMM002 Kommerell Diverticulum 14 0.023
532
LNG099 Lung Disease 64 0.023
533
CRV038 Cervical Squamous Cell Carcinoma 60 0.023
534
CHL068 Cholestasis 59 0.023
535
SYN007 Synovitis 58 0.023
536
P CND004 Candidiasis 57 0.023
537
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.023
538
END041 Endometrial Adenocarcinoma 56 0.023
539
P STR022 Stargardt Disease 56 0.023
540
P LMY004 Leiomyosarcoma 55 0.023
541
P RTN016 Retinal Degeneration 54 0.023
542
IMP002 Imperforate Anus 52 0.023
543
BLR001 Biliary Atresia 52 0.023
544
P LCT001 Lactic Acidosis 51 0.023
545
P STR020 Strabismus 51 0.023
546
c FML053 Familial Colorectal Cancer 51 0.023
547
c AXN009 Axenfeld-Rieger Syndrome, Type 1 47 0.023
548
PLY012 Polyhydramnios 47 0.023
549
SPN035 Spindle Cell Sarcoma 47 0.023
550
SKL014 Skeletal Dysplasia 46 0.023
551
STS002 Situs Inversus 46 0.023
552
RGH009 Right Atrial Isomerism 44 0.023
553
LRW001 Leri-Weill Dyschondrosteosis 43 0.023
554
P ANT026 Anterior Segment Mesenchymal Dysgenesis 42 0.023
555
EPS026 Epispadias 40 0.023
556
P SYN012 Synpolydactyly 38 0.023
557
c CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 26 0.023
558
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 17 0.023
559
MSC013 Mosaic Monosomy 18 6 0.023
560
P LVR013 Liver Disease 75 0.022
561
CRB037 Cerebral Palsy 66 0.022
562
SMT004 Smith-Lemli-Opitz Syndrome 66 0.022
563
MYC006 Mycosis Fungoides 66 0.022
564
URN008 Urinary Bladder Cancer 66 0.022
565
DFC004 Deficiency Anemia 64 0.022
566
WLM007 Wilms Tumor Susceptibility-5 63 0.022
567
P ALX003 Alexander Disease 63 0.022
568
P HMN010 Hemangioma 59 0.022
569
PLM070 Pulmonic Stenosis 59 0.022
570
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 0.022
571
PLY023 Polycystic Liver Disease 56 0.022
572
LKC001 Leukocyte Adhesion Deficiency 55 0.022
573
ADL002 Adult Syndrome 52 0.022
574
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.022
575
P PRM002 Primary Hyperoxaluria 51 0.022
576
PLC003 Placental Site Trophoblastic Tumor 47 0.022
577
GST009 Gastroschisis 47 0.022
578
ADR008 Adrenal Adenoma 47 0.022
579
GNG002 Ganglioneuroma 47 0.022
580
FCH001 Fuchs' Endothelial Dystrophy 46 0.022
581
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 46 0.022
582
CRD118 Cardiovascular Cancer 44 0.022
583
BWN001 Bowen-Conradi Syndrome 44 0.022
584
APH010 Aphakia, Congenital Primary 44 0.022
585
SYN031 Synovial Chondromatosis 42 0.022
586
CHL052 Choledochal Cyst 41 0.022
587
IDP070 Idiopathic Scoliosis 41 0.022
588
ATY008 Atypical Lipomatous Tumor 40 0.022
589
ANG049 Angioedema Induced by Ace Inhibitors 34 0.022
590
c PTS008 Ptosis, Congenital 31 0.022
591
BDN002 Bednar Tumor 28 0.022
592
IRS007 Iris Hypoplasia 25 0.022
593
CHN001 Chondroid Lipoma 24 0.022
594
CHR170 Choroid Plexus Cyst 17 0.022
595
MSC015 Mosaic Trisomy 13 12 0.022
596
LVR012 Liver Cirrhosis 67 0.020
597
OMN001 Omenn Syndrome 67 0.020
598
PSR001 Psoriatic Arthritis 64 0.020
599
ACN011 Acne 62 0.020
600
ISC004 Ischemia 61 0.020
601
MCK007 Muckle-Wells Syndrome 61 0.020
602
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.020
603
P INT001 Intrahepatic Cholestasis 59 0.020
604
P BRS044 Breast Adenocarcinoma 58 0.020
605
CHL067 Cholecystitis 57 0.020
606
P RBL001 Rubella 57 0.020
607
c ACT027 Acute Pancreatitis 57 0.020
608
MGK001 Megakaryocytic Leukemia 55 0.020
609
P LPR002 Leopard Syndrome 55 0.020
610
CHR029 Choroid Plexus Papilloma 55 0.020
611
HDC001 Headache 54 0.020
612
AGN012 Agnathia-Otocephaly Complex 53 0.020
613
KRT006 Keratoconjunctivitis 52 0.020
614
P SCH018 Schizencephaly 52 0.020
615
OPT006 Optic Nerve Disease 52 0.020
616
OCL022 Ocular Melanoma 52 0.020
617
BRN038 Bronchial Disease 51 0.020
618
DCT002 Ductal Carcinoma in Situ 51 0.020
619
VSC006 Vascular Cancer 51 0.020
620
P HRD018 Hair Disease 51 0.020
621
DSS009 Disseminated Intravascular Coagulation 51 0.020
622
CHL069 Cholesteatoma 49 0.020
623
URB001 Urbach-Wiethe Disease 49 0.020
624
NSD001 Nose Disease 48 0.020
625
P SCL009 Sclerosing Cholangitis 48 0.020
626
DSM007 Desmoplastic Small Round Cell Tumor 47 0.020
627
VLV044 Vulvar Intraepithelial Neoplasia 47 0.020
628
FND002 Fundus Dystrophy 46 0.020
629
HMN009 Hemangioblastoma 45 0.020
630
CLL002 Collecting Duct Carcinoma 45 0.020
631
TCL003 T Cell Deficiency 45 0.020
632
PHY002 Physical Disorder 43 0.020
633
c ATM022 Autoimmune Myocarditis 42 0.020
634
PRT019 Protein-Losing Enteropathy 42 0.020
635
AYM001 Ayme-Gripp Syndrome 41 0.020
636
P CNG390 Congenital Pulmonary Airway Malformation 41 0.020
637
GNG008 Ganglioneuroblastoma 40 0.020
638
CPL007 Capillary Malformation-Arteriovenous Malformation 40 0.020
639
PNC056 Pineocytoma 39 0.020
640
P PRS062 Persistent Hyperplastic Primary Vitreous 38 0.020
641
PDT001 Pediatric Lymphoma 38 0.020
642
P CRN276 Corneal Endothelial Dystrophy 37 0.020
643
GST012 Gastroesophageal Junction Adenocarcinoma 37 0.020
644
P ENC011 Encephalomyopathy 37 0.020
645
MDY003 Mody, Type Ii 36 0.020
646
OPT008 Optic Nerve Neoplasm 36 0.020
647
PRT005 Protoplasmic Astrocytoma 36 0.020
648
DYS006 Dysembryoplastic Neuroepithelial Tumor 35 0.020
649
PLV001 Pelvic Lipomatosis 33 0.020
650
ALL014 Allergic Encephalomyelitis 32 0.020
651
P ECT002 Ectomesenchymoma 32 0.020
652
CVT001 Cavitary Optic Disc Anomalies 31 0.020
653
FST001 Foster-Kennedy Syndrome 31 0.020
654
CHR033 Chordoid Glioma 30 0.020
655
ADL086 Adolescent Idiopathic Scoliosis 30 0.020
656
c CHR013 Chronic Apical Periodontitis 30 0.020
657
c MLG133 Malignant Ectomesenchymoma 27 0.020
658
BLR028 Biliary Atresia, Extrahepatic 27 0.020
659
c CTR134 Cataract 23 27 0.020
660
c SYN038 Synpolydactyly, Type Ii 26 0.020
661
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 0.020
662
ATM052 Autoimmune Disease 1 25 0.020
663
CRV066 Cervical Aortic Arch 19 0.020
664
c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 18 0.020
665
CNS013 Constricting Bands, Congenital 16 0.020
666
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.018
667
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.018
668
c HPT073 Hepatitis C Virus 73 0.018
669
CNG034 Congestive Heart Failure 72 0.018
670
ISC006 Ischemic Heart Disease 68 0.018
671
VSC007 Vascular Disease 67 0.018
672
c CHR089 Chronic Kidney Failure 66 0.018
673
P CNJ013 Conjunctivitis 64 0.018
674
P PRP003 Porphyria Cutanea Tarda 64 0.018
675
WGN006 Wegener Granulomatosis 63 0.018
676
CTN007 Cutaneous Leishmaniasis 62 0.018
677
P LNG064 Lung Cancer Susceptibility 3 62 0.018
678
P DRM010 Dermatomyositis 62 0.018
679
MSL001 Measles 61 0.018
680
HPY002 H. Pylori Infection 61 0.018
681
c ATM011 Autoimmune Hepatitis 60 0.018
682
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 59 0.018
683
KND001 Kindler Syndrome 57 0.018
684
BLS001 Blau Syndrome 57 0.018
685
CHY002 Chylomicron Retention Disease 57 0.018
686
UTR039 Uterine Fibroid 57 0.018
687
PHR003 Pharyngitis 56 0.018
688
VSC003 Visceral Leishmaniasis 56 0.018
689
P GST044 Gastritis 56 0.018
690
CLR003 Clear Cell Adenocarcinoma 56 0.018
691
GLC003 Glucose Intolerance 55 0.018
692
FCL014 Focal Epilepsy 55 0.018
693
LNG039 Lung Squamous Cell Carcinoma 54 0.018
694
c PRM126 Primary Peritoneal Carcinoma 54 0.018
695
MCN017 Meconium Ileus 54 0.018
696
GST027 Gastric Lymphoma 53 0.018
697
P ACT135 Acute Graft Versus Host Disease 53 0.018
698
ANG020 Angiosarcoma 53 0.018
699
RTN018 Retinal Disease 53 0.018
700
CHL014 Cholera 53 0.018
701
c HMN021 Human T-Cell Leukemia Virus Type 1 52 0.018
702
IRN001 Iron Deficiency Anemia 52 0.018
703
MST016 Mesothelioma, Somatic 51 0.018
704
PLR022 Pleural Disease 51 0.018
705
ADN009 Adenosquamous Carcinoma 51 0.018
706
c GRS014 Griscelli Syndrome, Type 2 51 0.018
707
THY025 Thymus Cancer 50 0.018
708
FML038 Female Reproductive Organ Cancer 50 0.018
709
MST017 Mast Cell Disease 50 0.018
710
OVR063 Overnutrition 50 0.018
711
STR081 Stormorken Syndrome 49 0.018
712
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 49 0.018
713
c CNG464 Congenital Myopathy 49 0.018
714
c RTN162 Retinitis Pigmentosa 2 48 0.018
715
PRN023 Prion Disease 48 0.018
716
P CMP008 Compartment Syndrome 48 0.018
717
NPH003 Nephrocalcinosis 48 0.018
718
GYN001 Gynecomastia 48 0.018
719
HND002 Hand, Foot and Mouth Disease 47 0.018
720
CYS014 Cystadenocarcinoma 47 0.018
721
PNC013 Pancreatic Ductal Carcinoma 46 0.018
722
BLD053 Blood Platelet Disease 46 0.018
723
P CRN074 Coronary Artery Aneurysm 46 0.018
724
VSC047 Vascular Malformation 45 0.018
725
PTT008 Pituitary Carcinoma 45 0.018
726
c RTN160 Retinitis Pigmentosa 60 45 0.018
727
c ADN012 Adenocarcinoma in Situ 45 0.018
728
TRC040 Tracheoesophageal Fistula 45 0.018
729
VTM002 Vitamin B12 Deficiency 44 0.018
730
MNC006 Monoclonal Gammopathy of Uncertain Significance 44 0.018
731
RFT001 Rift Valley Fever 44 0.018
732
SRC027 Sarcoma, Synovial 44 0.018
733
c RTN172 Retinitis Pigmentosa 1 43 0.018
734
ART031 Aortic Coarctation 43 0.018
735
PLG004 Plagiocephaly 43 0.018
736
MLR006 Male Reproductive Organ Cancer 43 0.018
737
DFF001 Diffuse Cutaneous Mastocytosis 43 0.018
738
MTR010 Mature Teratoma 42 0.018
739
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 0.018
740
HPT008 Hepatic Tuberculosis 42 0.018
741
INT060 Intestinal Atresia 42 0.018
742
SBP004 Subependymoma 42 0.018
743
c SML034 Small Cell Neuroendocrine Carcinoma 42 0.018
744
P MTC004 Mitochondrial Encephalomyopathy 42 0.018
745
MLL001 Molluscum Contagiosum 42 0.018
746
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.018
747
c LNG031 Lung Benign Neoplasm 41 0.018
748
CRB002 Cerebral Primitive Neuroectodermal Tumor 41 0.018
749
SCL017 Sclerosing Hemangioma 41 0.018
750
P CNN004 Connective Tissue Cancer 40 0.018
751
ADT003 Auditory System Disease 40 0.018
752
c PLN018 Peeling Skin Syndrome 2 40 0.018
753
c INF087 Inflammatory Bowel Disease 4 40 0.018
754
PLM018 Pulmonary Sclerosing Hemangioma 39 0.018
755
c MLG074 Malignant Mesenchymoma 39 0.018
756
c ART106 Arterial Calcification, Generalized, of Infancy, 1 39 0.018
757
BDY001 Body Dysmorphic Disorder 39 0.018
758
SWT002 Sweat Gland Cancer 39 0.018
759
MNR003 Mineral Metabolism Disease 38 0.018
760
NSL022 Nasal Cavity Disease 38 0.018
761
ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 37 0.018
762
c CHR579 Chiari Malformation Type Ii 37 0.018
763
P PRX010 Paroxysmal Ventricular Fibrillation 37 0.018
764
HRD016 Hereditary Retinal Dystrophy 36 0.018
765
GRM001 Germ Cell and Embryonal Cancer 36 0.018
766
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.018
767
FRY006 Fryns Microphthalmia Syndrome 36 0.018
768
PLM016 Pleomorphic Carcinoma 36 0.018
769
CRB024 Cerebral Neuroblastoma 35 0.018
770
ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 35 0.018
771
INV004 Invasive Bladder Transitional Cell Carcinoma 35 0.018
772
PLX001 Plexiform Schwannoma 35 0.018
773
MNN008 Meningeal Melanomatosis 35 0.018
774
c RTN177 Retinitis Pigmentosa 73 35 0.018
775
LMY013 Leiomyoma, Uterine, Somatic 34 0.018
776
SPT007 Spitz Nevus 34 0.018
777
SLC005 Selective Iga Deficiency Disease 34 0.018
778
END013 Endometrial Small Cell Carcinoma 34 0.018
779
FTD001 Foot Drop 33 0.018
780
CLD011 Cold Urticaria 33 0.018
781
INT082 Intraocular Retinoblastoma 33 0.018
782
P MSN006 Mesenchymoma 33 0.018
783
CRB022 Cerebellar Liponeurocytoma 33 0.018
784
INT016 Intraductal Papilloma 33 0.018
785
ANS012 Anus Disease 32 0.018
786
c CNN010 Connective Tissue Benign Neoplasm 32 0.018
787
c HRS036 Hirschsprung Disease 2 32 0.018
788
AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 32 0.018
789
c INF088 Inflammatory Bowel Disease 5 31 0.018
790
PPL013 Papillary Ependymoma 31 0.018
791
GLM012 Glomuvenous Malformations 31 0.018
792
c INF078 Inflammatory Bowel Disease 2 31 0.018
793
MDY005 Mody, Type I 30 0.018
794
PRT048 Partial Atrioventricular Canal 30 0.018
795
PRG007 Progressive Bulbar Palsy 30 0.018
796
BRW001 Brown-Vialetto-Van Laere Syndrome 30 0.018
797
c CNT068 Central Pain Syndrome 29 0.018
798
c PLN021 Peeling Skin Syndrome 3 29 0.018
799
GLY012 Glycogen-Rich Clear Cell Breast Carcinoma 29 0.018
800
LNG019 Lung Combined Type Small Cell Carcinoma 29 0.018
801
CHN009 Chondroid Chordoma 29 0.018
802
IDP034 Idiopathic Central Precocious Puberty 29 0.018
803
CHR055 Chordoid Meningioma 28 0.018
804
ENC014 Enchondroma 28 0.018
805
OVR097 Ovarian Fibrothecoma 26 0.018
806
EXS016 Exstrophy of Bladder Bladder Exstrophy and Epispadias Complex, Included 25 0.018
807
CNR003 Cone-Rod Dystrophy 1 25 0.018
808
MCR014 Microcystic Adenoma 25 0.018
809
MDR004 Madras Motor Neuron Disease 25 0.018
810
ATR055 Atrial Septal Aneurysm 24 0.018
811
CRB032 Cerebral Convexity Meningioma 23 0.018
812
PPL023 Pupil Disease 23 0.018
813
RBF003 Riboflavin Transporter Deficiency 22 0.018
814
ATM059 Autoimmune Disease 6 22 0.018
815
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 21 0.018
816
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 21 0.018
817
MLN009 Melanotic Neurilemmoma 20 0.018
818
UVL003 Uveal Diseases 18 0.018
819
RBF002 Riboflavin Transporter Deficiency Neuronopathy 18 0.018
820
MTR027 Mitral Atresia 17 0.018
821
GST094 Gastroschisis Abdominal Wall Defects, Included 17 0.018
822
ABR001 Aberrant Subclavian Artery 17 0.018
823
DBL010 Double-Orifice Mitral Valve 16 0.018
824
DRM015 Dermoids of Cornea 16 0.018
825
ATM053 Autoimmune Disease 2 16 0.018
826
ATM054 Autoimmune Disease 3 15 0.018
827
FBL014 Fibular Hemimelia 15 0.018
828
ESP040 Esophageal Duplication Cyst 15 0.018
829
c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 15 0.018
830
LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 14 0.018
831
SLC003 Selective Igm Deficiency Disease 13 0.018
832
P XKP001 Xk Aprosencephaly 11 0.018
Content
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