Search results for "ring chromosomes"

The MalaCard for "ring chromosomes" has been retired.
Searching MalaCards for entries containing "ring chromosomes"

832 hits were found for 'ring chromosomes'

# Family MCID Name MIFTS Score
1
c RNG029 Ring Chromosome 14 Syndrome 21 5.294
2
c RNG016 Ring Chromosome 20 24 5.276
3
c RNG014 Ring Chromosome 19 13 4.130
4
c RNG013 Ring Chromosome 18 20 3.960
5
c RNG017 Ring Chromosome 21 25 3.952
6
c RNG010 Ring Chromosome 15 24 3.938
7
c RNG008 Ring Chromosome 13 21 3.921
8
c RNG018 Ring Chromosome 22 19 3.915
9
c RNG023 Ring Chromosome 7 38 3.910
10
c RNG025 Ring Chromosome 9 15 3.864
11
c RNG004 Ring Chromosome 1 33 3.841
12
c RNG005 Ring Chromosome 10 21 3.831
13
c RNG007 Ring Chromosome 12 16 3.831
14
c RNG022 Ring Chromosome 6 24 3.550
15
c RNG012 Ring Chromosome 17 14 3.499
16
c RNG024 Ring Chromosome 8 17 3.492
17
c RNG020 Ring Chromosome 4 32 3.165
18
c RNG015 Ring Chromosome 2 22 3.113
19
c RNG006 Ring Chromosome 11 16 3.103
20
c RNG021 Ring Chromosome 5 18 3.091
21
c RNG019 Ring Chromosome 3 17 3.085
22
c RNG011 Ring Chromosome 16 13 3.085
23
CHR540 Chromosome 8-Derived Supernumerary Ring /marker 13 3.052
24
P RNG028 Ring Chromosome Y 16 1.618
25
P LKM002 Leukemia 70 0.250
26
P ADN016 Adenocarcinoma 69 0.208
27
P LYM118 Lymphoma 70 0.149
28
RFR010 Refractory Anemia 45 0.146
29
P EPL164 Epilepsy 66 0.141
30
P BRS047 Breast Cancer 100 0.124
31
P MYL006 Myeloid Leukemia 67 0.122
32
P KRT007 Keratoconus 51 0.121
33
PRS047 Prostatitis 56 0.113
34
MYL009 Myelodysplastic Syndrome 74 0.111
35
THR004 Thrombocytosis 55 0.105
36
P CTR002 Cataract 57 0.102
37
P LYM026 Lymphoblastic Leukemia 60 0.101
38
RTN023 Retinitis 49 0.100
39
P INF032 Infertility 61 0.096
40
P THY032 Thyroiditis 54 0.095
41
AZS001 Azoospermia 48 0.091
42
GST053 Gastric Cancer 77 0.087
43
P MCR010 Microcephaly 58 0.086
44
P ESP024 Esophagitis 62 0.086
45
DWN001 Down Syndrome 65 0.086
46
ADN018 Adenoma 59 0.081
47
P TRN020 Turner Syndrome 64 0.080
48
P CLR023 Colorectal Cancer 97 0.080
49
P BCL006 B-Cell Lymphomas 64 0.080
50
P LNG032 Lung Cancer 94 0.080
51
RGH006 Right Aortic Arch 26 0.079
52
P ATX004 Ataxia 53 0.079
53
P PNC044 Pancreatitis 60 0.079
54
HV1006 Hiv-1 82 0.079
55
SRC014 Sarcoma 66 0.077
56
P OBS005 Obesity 93 0.077
57
P RTN008 Retinitis Pigmentosa 79 0.074
58
P HPT021 Hepatitis 70 0.074
59
P GND004 Gonadal Dysgenesis 53 0.073
60
PRM097 Primary Immunodeficiency Disease 61 0.073
61
P PRS040 Prostate Cancer 89 0.072
62
ANR002 Aniridia 60 0.072
63
NRN002 Neuronitis 42 0.071
64
P NRB001 Neuroblastoma 69 0.071
65
P SCH015 Schizophrenia 76 0.070
66
c ACT073 Acute Leukemia 62 0.068
67
GST040 Gastric Adenocarcinoma 52 0.068
68
FML039 Female Reproductive System Disease 48 0.067
69
HMN014 Human Immunodeficiency Virus Infectious Disease 49 0.066
70
P HLP001 Holoprosencephaly 62 0.066
71
P INT063 Intellectual Disability 53 0.065
72
P MYP004 Myopathy 67 0.063
73
P SLV001 Silver-Russell Syndrome 54 0.062
74
P CRV039 Cervicitis 44 0.062
75
P HRT032 Heart Disease 76 0.062
76
END072 Endotheliitis 42 0.062
77
MLN007 Male Infertility 56 0.062
78
P MSC005 Muscular Dystrophy 64 0.061
79
RPR002 Reproductive System Disease 46 0.061
80
WLF002 Wolf-Hirschhorn Syndrome 45 0.061
81
CTY001 Cat Eye Syndrome 42 0.060
82
P RTN024 Retinoblastoma 75 0.059
83
P ACT074 Acute Lymphocytic Leukemia 55 0.059
84
P TRT010 Teratoma 52 0.059
85
CRD002 Cri-Du-Chat Syndrome 48 0.059
86
DRM014 Dermatofibrosarcoma Protuberans 60 0.059
87
P ANG001 Angelman Syndrome 61 0.059
88
P GLB002 Glioblastoma 66 0.058
89
P OVR042 Ovarian Cancer 75 0.058
90
VGN023 Vaginitis 42 0.057
91
EYD002 Eye Disease 63 0.056
92
P SDR003 Sideroblastic Anemia 39 0.056
93
ANR040 Aneurysm 57 0.056
94
c CHR090 Chronic Lymphocytic Leukemia 74 0.056
95
DMN002 Dementia 64 0.055
96
c MNS008 Monosomy 21 25 0.054
97
ETH011 Ethylmalonic Encephalopathy 59 0.053
98
HPT023 Hepatocellular Carcinoma 91 0.053
99
P GLM045 Glioma 58 0.053
100
P PTN002 Patent Ductus Arteriosus 52 0.053
101
STT001 Status Epilepticus 59 0.052
102
GND001 Gonadoblastoma 42 0.052
103
P DGR001 Digeorge Syndrome 52 0.052
104
AND005 Androgen Insensitivity Syndrome, Mild 16 0.052
105
P NRP001 Neuropathy 60 0.051
106
c MTR002 Mitral Valve Insufficiency 44 0.051
107
RNG030 Ringed Hair 20 0.051
108
c BSL007 Basal Cell Carcinoma 64 0.050
109
XLN215 X-Linked Congenital Generalized Hypertrichosis 14 0.050
110
P PRD006 Prader-Willi Syndrome 63 0.050
111
KLN001 Klinefelter's Syndrome 55 0.050
112
VRL011 Viral Infectious Disease 59 0.049
113
P ATX030 Ataxia-Telangiectasia 76 0.049
114
P HYP086 Hypothyroidism 65 0.049
115
RHB003 Rhabdomyosarcoma 58 0.049
116
NRL016 Neural Tube Defects 76 0.048
117
P CRD011 Cardiomyopathy 67 0.048
118
SMT008 Smith-Magenis Syndrome 51 0.048
119
DDN006 Duodenitis 44 0.048
120
P ART022 Arthritis 75 0.048
121
ALR002 Al-Raqad Syndrome 36 0.048
122
BNM001 Bone Marrow Cancer 52 0.048
123
LMY002 Leiomyoma 42 0.048
124
P AST005 Asthma 82 0.047
125
MRG013 Mirage Syndrome 26 0.047
126
CHR177 Chromophobe Renal Cell Carcinoma 53 0.047
127
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.047
128
CRN009 Corneal Ectasia 26 0.047
129
P DYS154 Dystonia 64 0.047
130
P HYP040 Hypospadias 57 0.047
131
P EPN002 Ependymoma 53 0.047
132
CHL071 Child Syndrome 58 0.046
133
P CRN211 Coronary Artery Disease 75 0.046
134
GRW007 Growth Hormone Deficiency 48 0.046
135
P PNC035 Pancreatic Cancer 85 0.046
136
ART111 Artery Disease 57 0.046
137
DFF005 Diffuse Large B-Cell Lymphoma 56 0.045
138
WLS001 Wilson Disease 72 0.045
139
KRT004 Keratitis 70 0.045
140
HMT018 Hematopoietic Stem Cell Transplantation 41 0.045
141
GLB003 Globe Disease 35 0.045
142
P OLG002 Oligodendroglioma 55 0.045
143
ACR041 Acromelic Frontonasal Dysostosis 46 0.045
144
P RBN001 Rubinstein-Taybi Syndrome 65 0.044
145
CHR285 Chronic Myelomonocytic Leukemia 55 0.044
146
BRT030 Birth Defects 43 0.044
147
P MXD016 Mixed Gonadal Dysgenesis 36 0.044
148
P MYP006 Myopia 59 0.044
149
P CHN012 Chondrosarcoma 57 0.044
150
NTR005 Nutritional Deficiency Disease 39 0.044
151
CHR008 Choroiditis 43 0.044
152
P MLT074 Multiple Endocrine Neoplasia 55 0.044
153
KDS001 Kid Syndrome 53 0.044
154
P AST007 Astrocytoma 65 0.044
155
LPM004 Lipoma 58 0.044
156
DRM006 Dermatitis 61 0.043
157
P PNC025 Panic Disorder 60 0.043
158
TRN018 Transitional Cell Carcinoma 54 0.043
159
HPT070 Hepatosplenic T-Cell Lymphoma 41 0.043
160
PRT036 Peritonitis 62 0.043
161
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.043
162
STM006 Stomach Disease 50 0.043
163
P HML002 Hemolytic Anemia 60 0.043
164
SYN005 Synostosis 45 0.043
165
CHR518 Chromosome 9p Deletion Syndrome 26 0.043
166
ING001 Inguinal Hernia 57 0.042
167
DYS073 Dysphagia 49 0.042
168
PRM025 Primary Bacterial Infectious Disease 43 0.042
169
P CRN178 Coronary Heart Disease 6 24 0.042
170
ANN002 Anencephaly 52 0.042
171
P ESN007 Eosinophilia 61 0.042
172
CLT003 Colitis 59 0.042
173
CNR002 Cone-Rod Dystrophy 68 0.042
174
P BPL003 Bipolar Disorder 62 0.042
175
c CRN172 Coronary Heart Disease 3 21 0.042
176
PHL006 Phelan-Mcdermid Syndrome 51 0.041
177
CSY001 C Syndrome 49 0.041
178
GST019 Gastrointestinal Stromal Tumor 72 0.041
179
HRM002 Hermaphroditism 38 0.041
180
EWN003 Ewing Sarcoma 64 0.041
181
ESP021 Esophageal Cancer 75 0.041
182
P ESS003 Essential Thrombocythemia 68 0.041
183
P TCL004 T-Cell Leukemia 46 0.040
184
CRN024 Corneal Disease 44 0.040
185
CRY002 Cryptorchidism 62 0.040
186
P RNL017 Renal Oncocytoma 46 0.040
187
P HYP265 Hypotonia 39 0.040
188
CRB009 Cerebritis 38 0.040
189
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.040
190
MCR013 Microphthalmia 59 0.040
191
CRN025 Corneal Dystrophy 41 0.040
192
INS024 Insulin-Like Growth Factor I 74 0.040
193
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 55 0.039
194
P ATR011 Atrial Fibrillation 64 0.039
195
P HYP024 Hypoparathyroidism 52 0.039
196
P LSS002 Lissencephaly 49 0.039
197
ATP002 Atopy 63 0.039
198
c ORF040 Orofaciodigital Syndrome Viii 48 0.039
199
P FBR031 Febrile Seizures 52 0.039
200
ANX002 Anxiety Disorder 69 0.038
201
P ENC018 Encephalopathy 59 0.038
202
WLL006 Wells Syndrome 56 0.038
203
DXT001 Dextrocardia 44 0.038
204
MLR007 Male Reproductive System Disease 37 0.038
205
P LRY019 Laryngitis 55 0.038
206
AMN001 Amenorrhea 51 0.038
207
MSC020 Mosaic Trisomy 8 27 0.038
208
P PLY006 Polydactyly 55 0.038
209
c SPR009 Sporadic Breast Cancer 47 0.038
210
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 26 0.037
211
c SYS001 Systemic Lupus Erythematosus 87 0.037
212
P LPS004 Lupus Erythematosus 63 0.037
213
GST092 Gastroesophageal Reflux 61 0.037
214
c CNT075 Central Precocious Puberty 53 0.037
215
SXL003 Sexual Disorder 47 0.037
216
GDS001 Good Syndrome 45 0.037
217
CNG108 Congenital Mitral Stenosis 18 0.037
218
P NRF019 Neurofibromatosis, Type 2 73 0.037
219
TBR010 Tuberculosis 69 0.037
220
ALP008 Alopecia 55 0.037
221
BNS002 Bone Structure Disease 36 0.037
222
CYS001 Cystic Fibrosis 86 0.036
223
P PSR002 Psoriasis 63 0.036
224
P MNC007 Monocytic Leukemia 55 0.036
225
PLS016 Plasma Cell Leukemia 42 0.036
226
c CHR565 Chromosomal Deletion Syndrome 27 0.036
227
MDD011 Mood Disorder 61 0.036
228
MGC001 Megacolon 50 0.036
229
SXD001 Sex Differentiation Disease 40 0.036
230
P RHM011 Rheumatoid Arthritis 88 0.036
231
P OST012 Osteoarthritis 82 0.036
232
P PRK001 Porokeratosis 44 0.036
233
P THY023 Thymoma 53 0.036
234
c LRG001 Large Cell Carcinoma 51 0.036
235
ANM029 Anemia, Sideroblastic, X-Linked 49 0.036
236
MRF001 Marfan Syndrome 73 0.036
237
c NRF018 Neurofibromatosis, Type 1 68 0.036
238
P HMP007 Hemophilia 56 0.036
239
MRG003 Marginal Zone B-Cell Lymphoma 50 0.036
240
PRP036 Peripheral T-Cell Lymphoma 45 0.036
241
P MYS005 Myositis 56 0.035
242
CRT028 Cor Triatriatum 21 0.035
243
P PLY011 Polycystic Ovary Syndrome 66 0.035
244
P PRC019 Precocious Puberty 51 0.035
245
CRB045 Cerebellar Hypoplasia 48 0.035
246
OLG001 Oligospermia 39 0.035
247
P RTT002 Rett Syndrome 78 0.035
248
PRT049 Partial Deletion of Y 31 0.035
249
TRN044 Transposition of the Great Arteries 47 0.034
250
MLB001 Mulibrey Nanism 44 0.034
251
c CRN175 Coronary Heart Disease 4 21 0.034
252
P MYC007 Myocardial Infarction 79 0.034
253
BNC003 Bone Cancer 45 0.034
254
BLP004 Blepharophimosis 39 0.034
255
MLR004 Malaria 79 0.034
256
P CLC005 Celiac Disease 67 0.034
257
c MCL062 Mucolipidosis Ii Alpha/beta 60 0.034
258
HPT074 Hepatic Adenoma, Somatic 51 0.034
259
ALB002 Albinism 43 0.034
260
c CHR020 Chronic Interstitial Cystitis 41 0.034
261
P HYD006 Hydrocephalus 67 0.034
262
P HRP006 Herpes Simplex 65 0.034
263
P SNS014 Sinusitis 60 0.034
264
CND002 Conduct Disorder 56 0.034
265
INT079 Intrahepatic Cholangiocarcinoma 55 0.034
266
P OVR049 Ovarian Disease 55 0.034
267
DDN011 Duodenal Atresia 39 0.034
268
SCR024 Sacrococcygeal Teratoma 26 0.034
269
XSM001 X Small Rings 18 0.034
270
THY028 Thyroid Cancer 68 0.033
271
P EPS003 Episodic Ataxia 56 0.033
272
P END044 Endometriosis 53 0.033
273
P ATR001 Atrioventricular Septal Defect 52 0.033
274
GND003 Gonadal Disease 43 0.033
275
ATT013 Attention Deficit-Hyperactivity Disorder 68 0.032
276
TNP003 Tn Polyagglutination Syndrome, Somatic 44 0.032
277
RTN017 Retinal Detachment 57 0.032
278
P SZR006 Seizure Disorder 57 0.032
279
DSS008 Disease of Mental Health 55 0.032
280
SPC003 Specific Developmental Disorder 40 0.032
281
TRC062 Tricuspid Atresia 34 0.032
282
P PTT014 Pitt-Hopkins Syndrome 51 0.032
283
RNL025 Renal Hypoplasia 41 0.032
284
FRY002 Fryns Syndrome 36 0.032
285
NRN004 Neuroendocrine Tumor 54 0.032
286
PRC013 Pericarditis 52 0.032
287
IRS003 Iris Disease 32 0.032
288
DYS135 Dysphagia Lusoria 15 0.032
289
P THR014 Thrombocytopenia 64 0.032
290
P HMC003 Hemochromatosis 72 0.031
291
P MYL005 Myelofibrosis 67 0.031
292
c HPT016 Hepatitis B 64 0.031
293
AND015 Androgen Insensitivity 63 0.031
294
ORL015 Oral Squamous Cell Carcinoma 56 0.031
295
47X001 47,xyy Syndrome 32 0.031
296
P VNT002 Ventricular Septal Defect 59 0.031
297
GTR002 Goiter 54 0.031
298
VND001 Vein Disease 52 0.031
299
P OCL002 Oculocutaneous Albinism 51 0.031
300
ATY005 Atypical Teratoid Rhabdoid Tumor 49 0.031
301
NSY001 N Syndrome 39 0.031
302
BLT001 Bilateral Retinoblastoma 37 0.031
303
INT221 Intravascular Large B-Cell Lymphoma 36 0.031
304
PNS015 Penoscrotal Transposition 21 0.031
305
P SML001 Small Cell Carcinoma 57 0.030
306
GLC008 Glucose Metabolism Disease 47 0.030
307
CYS009 Cystadenoma 40 0.030
308
PNC118 Pancreas, Annular 27 0.030
309
PTR006 Peters Anomaly 64 0.030
310
P THL005 Thalassemia 61 0.030
311
PLS011 Plasmacytoma 56 0.030
312
P MGR003 Migraine with Aura 51 0.030
313
P SCK009 Seckel Syndrome 1 46 0.030
314
P HMP006 Hemiplegic Migraine 44 0.030
315
SMN007 Seminoma 42 0.030
316
PLL008 Pallister-Killian Syndrome 31 0.030
317
PCK002 Pick Disease 67 0.029
318
WST001 West Syndrome 61 0.029
319
c FML001 Familial Atrial Fibrillation 59 0.029
320
MRB003 Morbid Obesity 58 0.029
321
P FTL001 Fetal Alcohol Syndrome 53 0.029
322
P PNC001 Pancytopenia 52 0.029
323
OPT037 Optic Nerve Hypoplasia 52 0.029
324
ESP020 Esophageal Atresia 49 0.029
325
LKC003 Leukocyte Disease 47 0.029
326
HYP691 Hypomelanosis of Ito 42 0.029
327
CHN010 Chondroma 41 0.029
328
CHN004 Chondroblastoma 40 0.029
329
P UTR038 Uterine Disease 40 0.029
330
P CNG003 Congenital Dyserythropoietic Anemia 39 0.029
331
c PLN017 Peeling Skin Syndrome 1 33 0.029
332
OST006 Osteoblastoma 31 0.029
333
MNT014 Mental Retardation Epilepsy 22 0.029
334
HDG012 Hodgkin Lymphoma 73 0.029
335
P ALG002 Alagille Syndrome 72 0.029
336
CHR072 Chordoma 59 0.029
337
MLG056 Malignant Hyperthermia 57 0.029
338
c FML023 Familial Hemiplegic Migraine 55 0.029
339
TTR001 Tetralogy of Fallot 71 0.028
340
BRK010 Burkitt Lymphoma 66 0.028
341
P CLR108 Colorectal Adenoma 60 0.028
342
HYP080 Hypogonadism 54 0.028
343
PRS039 Prostate Adenocarcinoma 46 0.028
344
CHR286 Chronic Neutrophilic Leukemia 44 0.028
345
GST014 Gastrointestinal Lymphoma 31 0.028
346
P ART023 Arthropathy 63 0.028
347
CNN005 Connective Tissue Disease 61 0.028
348
P GST044 Gastritis 58 0.028
349
GST037 Gastroparesis 53 0.028
350
CLR109 Colorectal Adenocarcinoma 50 0.028
351
ACT049 Acute Disseminated Encephalomyelitis 49 0.028
352
HYD005 Hydrocele 47 0.028
353
P PLN008 Peeling Skin Syndrome 47 0.028
354
KRT008 Keratopathy 46 0.028
355
PRN011 Pernicious Anemia 46 0.028
356
SKN023 Skin Tag 46 0.028
357
URT001 Urethritis 40 0.028
358
SML031 Small Cell Carcinoma of the Bladder 39 0.028
359
GRN022 Granulosa Cell Tumor of the Ovary 37 0.028
360
c TRC078 Trichohepatoenteric Syndrome 2 31 0.028
361
PRS037 Periostitis 30 0.028
362
c KRT029 Keratoconus 1 28 0.028
363
c SYN060 Syndactyly, Type Iii 26 0.028
364
CNG361 Congenital Supravalvular Mitral Ring 4 0.028
365
P ALP009 Alopecia Areata 61 0.028
366
PLY023 Polycystic Liver Disease 57 0.028
367
HDC001 Headache 54 0.028
368
BLM002 Bulimia Nervosa 54 0.028
369
P LCH002 Lichen Planus 53 0.028
370
ADL002 Adult Syndrome 53 0.028
371
MYC002 Mycobacterium Avium Complex Disease 51 0.028
372
P TRC086 Trichohepatoenteric Syndrome 1 46 0.028
373
WTH001 Withdrawal Disorder 41 0.028
374
CRB026 Cerebellar Astrocytoma 39 0.028
375
HMN016 Hemangioendothelioma 38 0.028
376
LNG054 Lung Agenesis 33 0.028
377
c CRN214 Coronary Heart Disease 5 23 0.028
378
ACQ031 Acquired Idiopathic Sideroblastic Anemia 21 0.028
379
CLB009 Coloboma of Iris 18 0.028
380
SVR004 Severe Combined Immunodeficiency 68 0.027
381
P OST002 Osteoporosis 64 0.027
382
HRY003 Hairy Cell Leukemia 60 0.027
383
P HYP060 Hyperinsulinism 59 0.027
384
P MTR004 Maturity-Onset Diabetes of the Young 57 0.027
385
PTT006 Pituitary Adenoma 55 0.027
386
NRF007 Neurofibroma 52 0.027
387
HNM002 Hinman Syndrome 25 0.027
388
GLC077 Glucocorticoid Therapy, Response to 19 0.027
389
DCH001 Duchenne Muscular Dystrophy 80 0.026
390
SKN016 Skin Disease 68 0.026
391
PSY004 Psychotic Disorder 67 0.026
392
OBS002 Obsessive-Compulsive Disorder 66 0.026
393
INC021 Incontinentia Pigmenti 60 0.026
394
P PRP029 Porphyria 58 0.026
395
P SCL018 Scoliosis 56 0.026
396
HYP266 Hypoxia 55 0.026
397
PPL022 Papilloma 55 0.026
398
c MLG077 Malignant Peripheral Nerve Sheath Tumor 53 0.026
399
P MLT007 Multiple Epiphyseal Dysplasia 51 0.026
400
PLM014 Pleomorphic Adenoma 50 0.026
401
PLS009 Plasma Cell Neoplasm 48 0.026
402
ACD009 Acid-Labile Subunit, Deficiency of 48 0.026
403
DWR001 Dwarfism 46 0.026
404
DRR008 Diarrhea 1, Secretory Chloride, Congenital 43 0.026
405
HYP064 Hypogonadotropism 38 0.026
406
ACR002 Acrocapitofemoral Dysplasia 36 0.026
407
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.026
408
P INF038 Influenza 74 0.026
409
P PNM007 Pneumonia 66 0.026
410
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.026
411
P NTR004 Neutropenia 59 0.026
412
ALL026 Allergic Hypersensitivity Disease 53 0.026
413
P CRV031 Cervical Adenocarcinoma 52 0.026
414
MNR002 Meniere's Disease 50 0.026
415
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 49 0.026
416
P CHL066 Cholangitis 49 0.026
417
c CLL013 Cell Type Cancer 48 0.026
418
GNG002 Ganglioneuroma 48 0.026
419
P OST028 Osteochondroma 48 0.026
420
NDL007 Nodular Goiter 46 0.026
421
P TRC087 Tricuspid Valve Disease 44 0.026
422
PLM020 Pleomorphic Xanthoastrocytoma 43 0.026
423
c LTH007 Lethal Congenital Contracture Syndrome 1 38 0.026
424
MCK002 Meckel's Diverticulum 36 0.026
425
SCR035 Sacral Agenesis with Vertebral Anomalies 33 0.026
426
AST002 Astroblastoma 31 0.026
427
ATY003 Atypical Autism 29 0.026
428
EPG004 Epignathus 17 0.026
429
P LPR003 Leprosy 68 0.025
430
P KDN017 Kidney Cancer 67 0.025
431
P AMY004 Amyloidosis 64 0.025
432
P SPN301 Spinocerebellar Ataxia 2 63 0.025
433
BRS051 Breast Disease 62 0.025
434
GNG013 Gingivitis 60 0.025
435
RBR001 Roberts Syndrome 59 0.025
436
P HRS035 Hirschsprung Disease 1 59 0.025
437
P DWL002 Dowling-Degos Disease 1 51 0.025
438
VRC001 Varicocele 50 0.025
439
KRT009 Keratosis 50 0.025
440
PPL002 Papillary Carcinoma 49 0.025
441
LPM005 Lipomatosis 47 0.025
442
SPN035 Spindle Cell Sarcoma 47 0.025
443
SKL014 Skeletal Dysplasia 46 0.025
444
PRN038 Prune Belly Syndrome 45 0.025
445
SKL017 Skeletal Dysplasias 45 0.025
446
CMP034 Complete Androgen Insensitivity Syndrome 42 0.025
447
BND014 Bone Development Disease 42 0.025
448
c PRM212 Primary Microcephaly 39 0.025
449
P JVN008 Juvenile Glaucoma 32 0.025
450
16Q001 16q24.3 Microdeletion Syndrome 19 0.025
451
c HPT001 Hepatitis C 68 0.024
452
INT146 Intervertebral Disc Disease 62 0.024
453
P ENC004 Encephalitis 61 0.024
454
P INT068 Intestinal Disease 61 0.024
455
P GST049 Gastrointestinal System Cancer 60 0.024
456
QFV001 Q Fever 60 0.024
457
OST017 Osteomyelitis 59 0.024
458
ART017 Aortic Disease 58 0.024
459
ALP001 Alopecia Universalis 57 0.024
460
RHM027 Rheumatic Disease 57 0.024
461
PNC034 Pancreas Disease 57 0.024
462
GLL022 Guillain-Barre Syndrome 56 0.024
463
GLC003 Glucose Intolerance 55 0.024
464
GST050 Gastrointestinal System Disease 54 0.024
465
DGN001 Degenerative Disc Disease 53 0.024
466
P PRT096 Peritoneal Mesothelioma 51 0.024
467
GNR004 Generalized Anxiety Disorder 51 0.024
468
P CLL015 Collagen Disease 49 0.024
469
P ADM011 Adams-Oliver Syndrome 48 0.024
470
MCP006 Mucoepidermoid Carcinoma 47 0.024
471
DSM007 Desmoplastic Small Round Cell Tumor 47 0.024
472
EPT020 Epithelioid Hemangioendothelioma 45 0.024
473
STR072 Stromal Keratitis 45 0.024
474
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 45 0.024
475
OLV002 Oliver Syndrome 44 0.024
476
BCK006 Back Pain 42 0.024
477
P LRG014 Large Cell Neuroendocrine Carcinoma 41 0.024
478
SPN369 Spinal Disease 41 0.024
479
VHW001 Vohwinkel Syndrome 41 0.024
480
SPN029 Spondylolysis 40 0.024
481
PNC056 Pineocytoma 40 0.024
482
c PNC106 Pancreatic Agenesis 1 40 0.024
483
c BRC081 Brachydactyly, Type C 39 0.024
484
ADJ001 Adjustment Disorder 38 0.024
485
MSC004 Muscle Tissue Disease 36 0.024
486
LCH004 Lichen Disease 36 0.024
487
c TRC022 Tricuspid Valve Insufficiency 34 0.024
488
GST004 Gastric Neuroendocrine Neoplasm 32 0.024
489
UNV002 Univentricular Heart 26 0.024
490
CNG134 Congenitally Corrected Transposition of the Great Arteries 23 0.024
491
c CRN174 Coronary Heart Disease 2 22 0.024
492
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 0.024
493
ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 16 0.024
494
KMM002 Kommerell Diverticulum 14 0.024
495
P NNN008 Noonan Syndrome 1 67 0.024
496
c HMP004 Hemophilia B 62 0.024
497
P PRS038 Personality Disorder 61 0.024
498
P CMR001 Camurati-Engelmann Disease 59 0.024
499
PRG097 Paragangliomas 1, with or Without Deafness 58 0.024
500
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.024
501
END041 Endometrial Adenocarcinoma 56 0.024
502
P STR022 Stargardt Disease 54 0.024
503
P RTN016 Retinal Degeneration 54 0.024
504
P LMY004 Leiomyosarcoma 53 0.024
505
P STR020 Strabismus 53 0.024
506
P LCT001 Lactic Acidosis 52 0.024
507
IMP002 Imperforate Anus 52 0.024
508
PLY012 Polyhydramnios 47 0.024
509
ATN002 Autonomic Nervous System Disease 47 0.024
510
IDP070 Idiopathic Scoliosis 40 0.024
511
ATY008 Atypical Lipomatous Tumor 40 0.024
512
P ANT026 Anterior Segment Mesenchymal Dysgenesis 38 0.024
513
P SYN012 Synpolydactyly 38 0.024
514
EPS026 Epispadias 37 0.024
515
P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 27 0.024
516
BDN002 Bednar Tumor 27 0.024
517
CHN001 Chondroid Lipoma 25 0.024
518
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 17 0.024
519
MSC013 Mosaic Monosomy 18 6 0.024
520
P DRV001 Dravet Syndrome 68 0.022
521
SMT004 Smith-Lemli-Opitz Syndrome 67 0.022
522
MYC006 Mycosis Fungoides 66 0.022
523
OTT002 Otitis Media 66 0.022
524
DFC004 Deficiency Anemia 65 0.022
525
WLM007 Wilms Tumor Susceptibility-5 64 0.022
526
PSR001 Psoriatic Arthritis 64 0.022
527
P ANR007 Anorexia Nervosa 63 0.022
528
P HMN010 Hemangioma 60 0.022
529
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.022
530
P GLM007 Glomerulonephritis 56 0.022
531
P PRM002 Primary Hyperoxaluria 56 0.022
532
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.022
533
c ART101 Aortic Valve Disease 2 55 0.022
534
GNG004 Ganglioglioma 49 0.022
535
KBG001 Kbg Syndrome 49 0.022
536
CRD118 Cardiovascular Cancer 47 0.022
537
P SCL009 Sclerosing Cholangitis 47 0.022
538
ADR008 Adrenal Adenoma 46 0.022
539
c ERL020 Early-Onset Schizophrenia 46 0.022
540
P CNN004 Connective Tissue Cancer 45 0.022
541
TCL003 T Cell Deficiency 45 0.022
542
BWN001 Bowen-Conradi Syndrome 45 0.022
543
GST009 Gastroschisis 43 0.022
544
BRN045 Brunner Syndrome 42 0.022
545
SYN031 Synovial Chondromatosis 41 0.022
546
LRW001 Leri-Weill Dyschondrosteosis 40 0.022
547
CHL052 Choledochal Cyst 40 0.022
548
ADN002 Adenoiditis 40 0.022
549
PHB001 Phobic Disorder 38 0.022
550
ANG049 Angioedema Induced by Ace Inhibitors 35 0.022
551
PRT048 Partial Atrioventricular Canal 30 0.022
552
IRS007 Iris Hypoplasia 23 0.022
553
ARM006 Armfield X-Linked Mental Retardation Syndrome 18 0.022
554
CHR170 Choroid Plexus Cyst 16 0.022
555
MSC015 Mosaic Trisomy 13 12 0.022
556
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.021
557
P MNN013 Meningitis 65 0.021
558
ACR007 Acromegaly 65 0.021
559
LKC001 Leukocyte Adhesion Deficiency 65 0.021
560
ACN011 Acne 63 0.021
561
P NRC002 Narcolepsy 62 0.021
562
OMN001 Omenn Syndrome 61 0.021
563
P BRS044 Breast Adenocarcinoma 60 0.021
564
PLM070 Pulmonic Stenosis 59 0.021
565
P UVT001 Uveitis 59 0.021
566
ISC004 Ischemia 59 0.021
567
PST028 Post-Traumatic Stress Disorder 57 0.021
568
CTS003 Coats Disease 57 0.021
569
P RBL001 Rubella 56 0.021
570
CHL067 Cholecystitis 56 0.021
571
c ACT027 Acute Pancreatitis 56 0.021
572
MNT002 Mental Depression 54 0.021
573
VSC006 Vascular Cancer 54 0.021
574
P MYC008 Myocarditis 54 0.021
575
MGK001 Megakaryocytic Leukemia 53 0.021
576
TRM010 Traumatic Brain Injury 52 0.021
577
P HYP083 Hypopituitarism 52 0.021
578
NCT008 Nicotine Dependence, Protection Against 52 0.021
579
P ALT001 Alternating Hemiplegia of Childhood 52 0.021
580
DSS009 Disseminated Intravascular Coagulation 51 0.021
581
c HMN021 Human T-Cell Leukemia Virus Type 1 51 0.021
582
MRK001 Merkel Cell Carcinoma 51 0.021
583
CHL069 Cholesteatoma 51 0.021
584
OPT006 Optic Nerve Disease 51 0.021
585
P HRD018 Hair Disease 50 0.021
586
MRC001 Marchiafava Bignami Disease 50 0.021
587
PST021 Postpartum Depression 49 0.021
588
P ART106 Arterial Calcification, Generalized, of Infancy, 1 49 0.021
589
URB001 Urbach-Wiethe Disease 48 0.021
590
PTT009 Pituitary Gland Disease 48 0.021
591
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 48 0.021
592
SCL003 Social Phobia 48 0.021
593
ECT026 Ectopic Pregnancy 47 0.021
594
PRN009 Paranoid Schizophrenia 47 0.021
595
ANT011 Antisocial Personality Disorder 47 0.021
596
BRD004 Borderline Personality Disorder 46 0.021
597
BNN003 Bone Inflammation Disease 46 0.021
598
FND002 Fundus Dystrophy 46 0.021
599
AYM001 Ayme-Gripp Syndrome 45 0.021
600
CLL002 Collecting Duct Carcinoma 45 0.021
601
PHY002 Physical Disorder 44 0.021
602
P PNC045 Pancreatic Agenesis 44 0.021
603
OPP004 Oppositional Defiant Disorder 43 0.021
604
CPL007 Capillary Malformation-Arteriovenous Malformation 41 0.021
605
P CNG390 Congenital Pulmonary Airway Malformation 41 0.021
606
c ATM022 Autoimmune Myocarditis 41 0.021
607
CNT019 Central Neurocytoma 41 0.021
608
INT060 Intestinal Atresia 40 0.021
609
PDT001 Pediatric Lymphoma 40 0.021
610
GRM001 Germ Cell and Embryonal Cancer 39 0.021
611
P WHT013 White Sponge Nevus 1 38 0.021
612
GST012 Gastroesophageal Junction Adenocarcinoma 38 0.021
613
ATM012 Autoimmune Disease of Blood 37 0.021
614
P PRS062 Persistent Hyperplastic Primary Vitreous 37 0.021
615
P ECT002 Ectomesenchymoma 35 0.021
616
P ENC011 Encephalomyopathy 34 0.021
617
FST001 Foster-Kennedy Syndrome 34 0.021
618
PHB003 Phobia, Specific 33 0.021
619
PNC019 Pancreatoblastoma 32 0.021
620
CVT001 Cavitary Optic Disc Anomalies 32 0.021
621
PLV001 Pelvic Lipomatosis 31 0.021
622
ADL086 Adolescent Idiopathic Scoliosis 29 0.021
623
c CTR134 Cataract 23 28 0.021
624
ATM052 Autoimmune Disease 1 28 0.021
625
c MLG133 Malignant Ectomesenchymoma 27 0.021
626
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 0.021
627
c SYN038 Synpolydactyly, Type Ii 26 0.021
628
FRM001 Freemartinism 22 0.021
629
CRV066 Cervical Aortic Arch 20 0.021
630
c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 18 0.021
631
ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 18 0.021
632
CNS013 Constricting Bands, Congenital 15 0.021
633
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.019
634
c HPT073 Hepatitis C Virus 72 0.019
635
CNG034 Congestive Heart Failure 71 0.019
636
P NRV007 Nervous System Disease 71 0.019
637
BRN028 Brain Cancer 70 0.019
638
ISC006 Ischemic Heart Disease 68 0.019
639
VSC007 Vascular Disease 67 0.019
640
P CNJ013 Conjunctivitis 65 0.019
641
CHR066 Chronic Fatigue Syndrome 64 0.019
642
P PRP003 Porphyria Cutanea Tarda 64 0.019
643
MTH009 Mouth Disease 63 0.019
644
P CRT072 Creutzfeldt-Jakob Disease 63 0.019
645
LYM017 Lyme Disease 63 0.019
646
P LNG064 Lung Cancer Susceptibility 3 62 0.019
647
RSP006 Respiratory System Disease 62 0.019
648
c KNN009 Kenny-Caffey Syndrome, Type 1 62 0.019
649
RCT015 Reactive Arthritis 62 0.019
650
LSH001 Leishmaniasis 62 0.019
651
CTN007 Cutaneous Leishmaniasis 62 0.019
652
CHR063 Chronic Mucocutaneous Candidiasis 61 0.019
653
MSL001 Measles 61 0.019
654
P SPN052 Spondyloarthropathy 60 0.019
655
c ATM010 Autoimmune Hemolytic Anemia 60 0.019
656
CHL123 Chlamydia 59 0.019
657
CHY002 Chylomicron Retention Disease 59 0.019
658
ALC006 Alcoholic Hepatitis 59 0.019
659
P ESC003 Escobar Syndrome 58 0.019
660
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 58 0.019
661
HPY002 H. Pylori Infection 58 0.019
662
c SRC025 Sarcoidosis 1 58 0.019
663
P DRM010 Dermatomyositis 58 0.019
664
PHR003 Pharyngitis 58 0.019
665
P EXN002 Exanthem 57 0.019
666
c SVR001 Severe Acute Respiratory Syndrome 57 0.019
667
RTN018 Retinal Disease 56 0.019
668
FCL014 Focal Epilepsy 56 0.019
669
VSC003 Visceral Leishmaniasis 55 0.019
670
PMS001 Poems Syndrome 55 0.019
671
PRC002 Paracoccidioidomycosis 55 0.019
672
CHL014 Cholera 55 0.019
673
DMY004 Demyelinating Disease 55 0.019
674
HDN004 Head and Neck Carcinoma 55 0.019
675
CCC001 Coccidioidomycosis 55 0.019
676
MVM001 Movement Disease 54 0.019
677
LST001 Listeriosis 54 0.019
678
LYM027 Lymphopenia 54 0.019
679
MCN017 Meconium Ileus 54 0.019
680
HMP005 Hemiplegia 54 0.019
681
c PRM126 Primary Peritoneal Carcinoma 54 0.019
682
P ACT135 Acute Graft Versus Host Disease 53 0.019
683
GST027 Gastric Lymphoma 53 0.019
684
ECH003 Echinococcosis 53 0.019
685
P SPS003 Spastic Diplegia 53 0.019
686
LNG039 Lung Squamous Cell Carcinoma 52 0.019
687
ANG020 Angiosarcoma 52 0.019
688
MST017 Mast Cell Disease 52 0.019
689
IRN001 Iron Deficiency Anemia 51 0.019
690
c RTN162 Retinitis Pigmentosa 2 51 0.019
691
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.019
692
ASP003 Aseptic Meningitis 51 0.019
693
DRG011 Drug Addiction 51 0.019
694
FML038 Female Reproductive Organ Cancer 51 0.019
695
ADT003 Auditory System Disease 51 0.019
696
c CNG464 Congenital Myopathy 50 0.019
697
KND001 Kindler Syndrome 50 0.019
698
STR081 Stormorken Syndrome 50 0.019
699
OVR063 Overnutrition 49 0.019
700
CCC002 Coccidiosis 49 0.019
701
P PNV001 Panuveitis 49 0.019
702
c ANT034 Anterior Uveitis 49 0.019
703
PRN023 Prion Disease 48 0.019
704
HND002 Hand, Foot and Mouth Disease 48 0.019
705
ACN001 Acinar Cell Carcinoma 48 0.019
706
P CMP008 Compartment Syndrome 48 0.019
707
HYP043 Hyperandrogenism 48 0.019
708
P PTT050 Pituitary Adenoma, Growth Hormone-Secreting 48 0.019
709
FRM003 Farmer's Lung 47 0.019
710
LMY013 Leiomyoma, Uterine, Somatic 47 0.019
711
CNT046 Central Nervous System Vasculitis 47 0.019
712
PNC013 Pancreatic Ductal Carcinoma 47 0.019
713
NPH003 Nephrocalcinosis 46 0.019
714
MCC002 Mucocutaneous Leishmaniasis 46 0.019
715
PRM003 Premature Ejaculation 46 0.019
716
c MLG081 Malignant Teratoma 46 0.019
717
VSC047 Vascular Malformation 45 0.019
718
HMN009 Hemangioblastoma 45 0.019
719
BRN014 Bronchopneumonia 45 0.019
720
CHL056 Cheilitis 45 0.019
721
c RTN172 Retinitis Pigmentosa 1 45 0.019
722
IDP064 Idiopathic Neutropenia 45 0.019
723
CRB002 Cerebral Primitive Neuroectodermal Tumor 45 0.019
724
PRS036 Parasitic Protozoa Infectious Disease 45 0.019
725
P PNB001 Pineoblastoma 44 0.019
726
c ADN012 Adenocarcinoma in Situ 44 0.019
727
MNC006 Monoclonal Gammopathy of Uncertain Significance 44 0.019
728
HYD057 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 44 0.019
729
P CRN074 Coronary Artery Aneurysm 44 0.019
730
CRV043 Cervical Dystonia 44 0.019
731
VTM002 Vitamin B12 Deficiency 44 0.019
732
P BTR001 Botryoid Rhabdomyosarcoma 44 0.019
733
RFT001 Rift Valley Fever 43 0.019
734
END038 Endocrine Pancreas Disease 43 0.019
735
MLL002 Miller Fisher Syndrome 43 0.019
736
ART031 Aortic Coarctation 42 0.019
737
THL018 Thalassemia Major 42 0.019
738
OPP002 Opportunistic Mycosis 42 0.019
739
c CLR085 Colorectal Cancer 1 42 0.019
740
PLG004 Plagiocephaly 42 0.019
741
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 0.019
742
MTR010 Mature Teratoma 42 0.019
743
P MLT134 Multiple Pterygium Syndrome, Lethal Type 41 0.019
744
c BNG023 Benign Familial Infantile Epilepsy 41 0.019
745
c SCN006 Secondary Syphilis 41 0.019
746
PRT019 Protein-Losing Enteropathy 41 0.019
747
MTR008 Mature B-Cell Neoplasm 41 0.019
748
SCL017 Sclerosing Hemangioma 41 0.019
749
BDY001 Body Dysmorphic Disorder 41 0.019
750
MLL001 Molluscum Contagiosum 41 0.019
751
P CYS017 Cystic Teratoma 41 0.019
752
PRM026 Primary Systemic Mycosis 41 0.019
753
NNF007 Non-Functioning Pituitary Adenoma 40 0.019
754
OPT008 Optic Nerve Neoplasm 40 0.019
755
P MTC004 Mitochondrial Encephalomyopathy 40 0.019
756
RHM009 Rheumatoid Lung Disease 40 0.019
757
TRN004 Trench Fever 39 0.019
758
PLM018 Pulmonary Sclerosing Hemangioma 39 0.019
759
P CNT036 Central Nervous System Germ Cell Tumor 39 0.019
760
EXT035 Extrinsic Cardiomyopathy 39 0.019
761
SLC005 Selective Iga Deficiency Disease 39 0.019
762
P PRX010 Paroxysmal Ventricular Fibrillation 39 0.019
763
MDY003 Mody, Type Ii 38 0.019
764
GRN009 Granulomatous Hepatitis 38 0.019
765
c MLG074 Malignant Mesenchymoma 38 0.019
766
ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 38 0.019
767
BRT043 Bartonellosis 38 0.019
768
P PRS049 Persistent Mullerian Duct Syndrome 38 0.019
769
c CHR579 Chiari Malformation Type Ii 38 0.019
770
SLT001 Solitary Osseous Plasmacytoma 38 0.019
771
PLS010 Plasma Protein Metabolism Disease 38 0.019
772
INV004 Invasive Bladder Transitional Cell Carcinoma 37 0.019
773
IMM015 Immune Defect Due to Absence of Thymus 37 0.019
774
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.019
775
SCH072 Scheuermann Disease 37 0.019
776
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 36 0.019
777
HRD016 Hereditary Retinal Dystrophy 36 0.019
778
c IRD008 Iridogoniodysgenesis, Type 2 36 0.019
779
ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 36 0.019
780
PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 36 0.019
781
c CNN010 Connective Tissue Benign Neoplasm 35 0.019
782
c PLN018 Peeling Skin Syndrome 2 35 0.019
783
DYS006 Dysembryoplastic Neuroepithelial Tumor 35 0.019
784
MYP100 Myopathy, X-Linked, with Excessive Autophagy 35 0.019
785
ADP007 Adie Pupil 34 0.019
786
c EYL003 Eye Lymphoma 33 0.019
787
INT016 Intraductal Papilloma 32 0.019
788
ANS012 Anus Disease 32 0.019
789
FTD001 Foot Drop 32 0.019
790
P MSN006 Mesenchymoma 32 0.019
791
PLY010 Polyclonal Hypergammaglobulinemia 32 0.019
792
c HRS036 Hirschsprung Disease 2 32 0.019
793
PSY003 Psychosexual Disorder 32 0.019
794
c PLN021 Peeling Skin Syndrome 3 31 0.019
795
c SPR083 Sporadic Hemiplegic Migraine 30 0.019
796
c CLR075 Colorectal Cancer 3 30 0.019
797
GLM012 Glomuvenous Malformations 29 0.019
798
VHW002 Vohwinkel Syndrome with Ichthyosis 29 0.019
799
IDP034 Idiopathic Central Precocious Puberty 29 0.019
800
FNG003 Fungal Esophagitis 28 0.019
801
ENC014 Enchondroma 28 0.019
802
GRN011 Granulomatous Gastritis 27 0.019
803
OLF004 Olfactory Nerve Neoplasm 26 0.019
804
HYD007 Hydrophthalmos 26 0.019
805
ATM059 Autoimmune Disease 6 26 0.019
806
EXS016 Exstrophy of Bladder Bladder Exstrophy and Epispadias Complex, Included 25 0.019
807
CD3003 Cd3gamma Deficiency 25 0.019
808
OVR097 Ovarian Fibrothecoma 24 0.019
809
ATR055 Atrial Septal Aneurysm 24 0.019
810
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 24 0.019
811
PPL023 Pupil Disease 23 0.019
812
MLN009 Melanotic Neurilemmoma 22 0.019
813
c FML306 Familial or Sporadic Hemiplegic Migraine 22 0.019
814
CLS012 Classic Rett Syndrome 22 0.019
815
INF033 Infancy Electroclinical Syndrome 22 0.019
816
ARD001 Aredyld 20 0.019
817
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 20 0.019
818
ATM053 Autoimmune Disease 2 19 0.019
819
ATM054 Autoimmune Disease 3 18 0.019
820
GST094 Gastroschisis Abdominal Wall Defects, Included 17 0.019
821
MTR027 Mitral Atresia 16 0.019
822
DBL010 Double-Orifice Mitral Valve 16 0.019
823
DRM015 Dermoids of Cornea 15 0.019
824
ABR001 Aberrant Subclavian Artery 15 0.019
825
FBL014 Fibular Hemimelia 15 0.019
826
ESP040 Esophageal Duplication Cyst 15 0.019
827
UVL003 Uveal Diseases 14 0.019
828
LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 14 0.019
829
PHV001 Phaver Syndrome 14 0.019
830
TRC112 Trochlea of the Humerus, Aplasia of 13 0.019
831
SLC003 Selective Igm Deficiency Disease 12 0.019
832
P XKP001 Xk Aprosencephaly 11 0.019