Search results for growth disorders

3247 hits were found for growth disorders

# Family MCID Name MIFTS Score
1
ISL003 Isolated Growth Hormone Deficiency 57 3.840
2
ACD008 Acid-Labile Subunit Deficiency 46 2.265
3
c CNG191 Congenital Disorder of Glycosylation, Type Iia 35 1.876
4
GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 18 1.741
5
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32 1.736
6
P TRC102 Trichothiodystrophy 1, Photosensitive 59 1.570
7
END072 Endotheliitis 46 0.646
8
INS024 Insulin-Like Growth Factor I 83 0.446
9
P BRS047 Breast Cancer 100 0.378
10
c BLD140 Blood Group, I System 37 0.368
11
PRS047 Prostatitis 59 0.332
12
GRW007 Growth Hormone Deficiency 52 0.312
13
P LNG032 Lung Cancer 99 0.288
14
P PRS040 Prostate Cancer 88 0.268
15
P PNC044 Pancreatitis 64 0.255
16
AGN016 Aging 65 0.249
17
P LKM002 Leukemia 75 0.249
18
NRN002 Neuronitis 43 0.235
19
P ADN016 Adenocarcinoma 71 0.227
20
P HPT023 Hepatocellular Carcinoma 94 0.219
21
ANX010 Anxiety 72 0.218
22
c SML038 Small Cell Cancer of the Lung 67 0.213
23
P BPL003 Bipolar Disorder 61 0.212
24
P HPT021 Hepatitis 75 0.210
25
P THY032 Thyroiditis 56 0.210
26
P GLM045 Glioma 61 0.209
27
SQM006 Squamous Cell Carcinoma 74 0.207
28
P CLR023 Colorectal Cancer 98 0.204
29
PSY004 Psychotic Disorder 72 0.203
30
MLN008 Melanoma 72 0.199
31
P PRS038 Personality Disorder 65 0.197
32
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.187
33
P PNC035 Pancreatic Cancer 89 0.187
34
P SCH015 Schizophrenia 71 0.187
35
GST053 Gastric Cancer 84 0.186
36
P ATS364 Autism 70 0.186
37
HYP266 Hypoxia 61 0.186
38
P LYM118 Lymphoma 71 0.185
39
P MJR001 Major Depressive Disorder 70 0.184
40
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.179
41
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.179
42
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.179
43
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.179
44
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.179
45
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.179
46
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.179
47
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.179
48
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.179
49
P OVR042 Ovarian Cancer 82 0.173
50
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.166
51
MDD011 Mood Disorder 64 0.162
52
GLB002 Glioblastoma 74 0.158
53
RTN023 Retinitis 52 0.156
54
P PNC025 Panic Disorder 57 0.155
55
DWR001 Dwarfism 48 0.155
56
ETN001 Eating Disorder 61 0.154
57
ADN018 Adenoma 63 0.154
58
c ATS007 Autism Spectrum Disorder 68 0.151
59
P ESP024 Esophagitis 64 0.151
60
OBS002 Obsessive-Compulsive Disorder 68 0.150
61
MNT002 Mental Depression 60 0.149
62
P CRV039 Cervicitis 49 0.149
63
P DBT009 Diabetes Mellitus 72 0.148
64
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.146
65
ACR007 Acromegaly 70 0.140
66
CRB009 Cerebritis 41 0.138
67
P NRB001 Neuroblastoma 73 0.138
68
P KDN018 Kidney Disease 69 0.136
69
SRC014 Sarcoma 68 0.135
70
PST028 Post-Traumatic Stress Disorder 59 0.130
71
PTT009 Pituitary Gland Disease 56 0.129
72
P ART022 Arthritis 77 0.128
73
P HYP083 Hypopituitarism 59 0.127
74
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.127
75
P MYL006 Myeloid Leukemia 69 0.126
76
MYL069 Myeloma, Multiple 86 0.126
77
GNR004 Generalized Anxiety Disorder 53 0.126
78
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.123
79
P PRD006 Prader-Willi Syndrome 66 0.122
80
ISC004 Ischemia 66 0.121
81
HYP085 Hypothalamic Disease 46 0.120
82
SLP005 Sleep Disorder 59 0.120
83
P PTT006 Pituitary Adenoma 57 0.118
84
CND002 Conduct Disorder 54 0.117
85
BRD004 Borderline Personality Disorder 50 0.117
86
P BLD134 Bladder Cancer 78 0.114
87
P ENC018 Encephalopathy 58 0.112
88
c BPL002 Bipolar I Disorder 50 0.110
89
P TRN020 Turner Syndrome 69 0.109
90
P ALZ034 Alzheimer Disease 95 0.108
91
P RHM011 Rheumatoid Arthritis 91 0.108
92
P NRP001 Neuropathy 63 0.105
93
P HRT032 Heart Disease 80 0.104
94
P MCR115 Microvascular Complications of Diabetes 5 66 0.103
95
P LVR013 Liver Disease 76 0.103
96
SCH012 Schizoaffective Disorder 51 0.102
97
c PRC016 Pre-Eclampsia 65 0.102
98
PRT036 Peritonitis 67 0.101
99
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.100
100
P ECL001 Eclampsia 57 0.100
101
P END044 Endometriosis 71 0.100
102
P RNG031 Ring Chromosome Y Syndrome 29 0.099
103
P CRV035 Cervical Cancer 72 0.099
104
c BLM008 Bulimia Nervosa 2 53 0.098
105
BRN071 Brain Injury 54 0.097
106
c OVR114 Ovarian Cancer 1 54 0.097
107
AST005 Asthma 83 0.096
108
ORL015 Oral Squamous Cell Carcinoma 59 0.096
109
c CHR089 Chronic Kidney Failure 72 0.096
110
c HPT001 Hepatitis C 73 0.096
111
HYP056 Hypoglycemia 62 0.095
112
PRV006 Pervasive Developmental Disorder 56 0.094
113
c LKM061 Leukemia, Acute Myeloid 81 0.094
114
SKN016 Skin Disease 68 0.093
115
P NRV007 Nervous System Disease 75 0.093
116
BRR014 Barrett Esophagus 64 0.092
117
PLC008 Placenta Disease 48 0.092
118
P OST002 Osteoporosis 75 0.092
119
c CNT035 Central Nervous System Disease 65 0.091
120
P EPL164 Epilepsy 70 0.090
121
LRN002 Laron Syndrome 63 0.090
122
THY028 Thyroid Cancer 72 0.090
123
c MLG068 Malignant Glioma 66 0.090
124
END057 Endometrial Cancer 76 0.090
125
MYL009 Myelodysplastic Syndrome 75 0.089
126
DMN002 Dementia 68 0.089
127
P AST007 Astrocytoma 66 0.089
128
ANR040 Aneurysm 61 0.089
129
SPS003 Spastic Diplegia 55 0.089
130
P LRY019 Laryngitis 57 0.089
131
P PRD008 Periodontitis 67 0.089
132
CHL065 Cholangiocarcinoma 70 0.088
133
P INF032 Infertility 59 0.087
134
ART140 Arteries, Anomalies of 51 0.086
135
NSP002 Nasopharyngitis 46 0.085
136
MTC069 Mitochondrial Disorders 49 0.085
137
SKN027 Skin Conditions 48 0.085
138
P MYP004 Myopathy 69 0.084
139
c MNN043 Meningioma, Familial 69 0.084
140
P LYM026 Lymphoblastic Leukemia 66 0.084
141
TRM010 Traumatic Brain Injury 54 0.084
142
P HYP086 Hypothyroidism 62 0.084
143
P PLY011 Polycystic Ovary Syndrome 65 0.084
144
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 41 0.083
145
P SLP006 Sleep Apnea 65 0.083
146
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.083
147
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.083
148
c PNS012 Paine Syndrome 52 0.083
149
GNG013 Gingivitis 64 0.082
150
GST050 Gastrointestinal System Disease 66 0.082
151
c MCL042 Macular Degeneration, Age-Related, 1 79 0.082
152
PTT037 Pituitary Tumors 49 0.082
153
P MYC007 Myocardial Infarction 81 0.082
154
ANT011 Antisocial Personality Disorder 51 0.081
155
LMY002 Leiomyoma 58 0.081
156
P MLT020 Multiple Sclerosis 85 0.081
157
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.081
158
BRS051 Breast Disease 67 0.081
159
SXD001 Sex Differentiation Disease 37 0.080
160
P HYP265 Hypotonia 40 0.080
161
P CRN018 Coronary Artery Anomaly 69 0.079
162
BRN106 Burns 57 0.079
163
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.079
164
GRW036 Growth Control, Y-Chromosome Influenced 33 0.078
165
P MDL005 Medulloblastoma 76 0.077
166
P RTN024 Retinoblastoma 76 0.077
167
LNG099 Lung Disease 67 0.077
168
MSC033 Muscle Disorders 53 0.077
169
MCS002 Mucositis 61 0.077
170
P RHB003 Rhabdomyosarcoma 61 0.077
171
ACH004 Achondroplasia 67 0.077
172
JNT002 Joint Disorders 60 0.076
173
OST012 Osteoarthritis 88 0.076
174
P BCL006 B-Cell Lymphomas 70 0.076
175
ESP021 Esophageal Cancer 79 0.076
176
P ANR048 Aniridia 1 68 0.076
177
P PLM036 Pulmonary Fibrosis 68 0.075
178
VSC007 Vascular Disease 71 0.075
179
CYS001 Cystic Fibrosis 85 0.075
180
c SCL052 Scleroderma, Familial Progressive 60 0.075
181
TTH032 Tooth Size 44 0.075
182
ANR038 Anorexia Nervosa 1 21 0.074
183
DWN001 Down Syndrome 70 0.074
184
P PRC019 Precocious Puberty 52 0.074
185
BLD137 Blood Group--Ahonen 17 0.074
186
URN009 Urinary System Disease 58 0.073
187
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.073
188
c LKM063 Leukemia, Chronic Myeloid 80 0.072
189
CNV002 Conversion Disorder 42 0.072
190
P SZR006 Seizure Disorder 55 0.072
191
BDY007 Body Mass Index Quantitative Trait Locus 1 23 0.072
192
P MCR010 Microcephaly 57 0.072
193
ALC007 Alcohol Dependence 65 0.072
194
P INF037 Inflammatory Bowel Disease 52 0.072
195
P NNN008 Noonan Syndrome 1 77 0.071
196
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.071
197
P MYL005 Myelofibrosis 75 0.071
198
c HPT016 Hepatitis B 68 0.070
199
GLB015 Glioblastoma Multiforme 68 0.070
200
P KDN017 Kidney Cancer 66 0.070
201
CLF001 Cleft Lip 54 0.070
202
P INT068 Intestinal Disease 65 0.070
203
P LTR001 Lateral Sclerosis 58 0.070
204
P ALP008 Alopecia 56 0.070
205
c MCR129 Microvascular Complications of Diabetes 1 62 0.070
206
PRS129 Prostatic Hyperplasia, Benign 47 0.070
207
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.069
208
P GRW001 Growth Hormone Secreting Pituitary Adenoma 43 0.069
209
ACQ007 Acquired Immunodeficiency Syndrome 65 0.069
210
LVR012 Liver Cirrhosis 73 0.068
211
IMM136 Immune System Disease 57 0.068
212
P MYP006 Myopia 56 0.068
213
c MCR112 Microvascular Complications of Diabetes 2 30 0.068
214
NRM005 Neuromuscular Disease 60 0.068
215
APN008 Apnea, Obstructive Sleep 67 0.068
216
c WLM011 Wilms Tumor 6 44 0.067
217
P LPS004 Lupus Erythematosus 69 0.067
218
CLT003 Colitis 63 0.067
219
KLD001 Keloids 50 0.067
220
c HPT073 Hepatitis C Virus 73 0.067
221
P CRN300 Coronary Heart Disease 1 57 0.067
222
P CNG411 Congenital Disorder of Glycosylation, Type in 55 0.067
223
HYP060 Hyperinsulinism 56 0.067
224
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.066
225
LYM133 Lymphoma, Hodgkin, Classic 78 0.066
226
P BLM007 Bulimia Nervosa 1 53 0.066
227
P SBS003 Substance Abuse 57 0.066
228
c WLM018 Wilms Tumor 5 49 0.066
229
c SYS001 Systemic Lupus Erythematosus 86 0.066
230
PTT048 Pituitary Adenoma, Prolactin-Secreting 63 0.066
231
RTN018 Retinal Disease 56 0.066
232
c ALC033 Alcohol Use Disorder 40 0.065
233
c PSD047 Pseudo-Turner Syndrome 15 0.065
234
CHR008 Choroiditis 47 0.065
235
P MSC005 Muscular Dystrophy 66 0.065
236
SCL003 Social Phobia 50 0.065
237
MSC004 Muscle Tissue Disease 39 0.065
238
P PSR002 Psoriasis 65 0.065
239
ATM095 Autoimmune Disease 66 0.065
240
THR024 Thrombosis 61 0.065
241
P OVR049 Ovarian Disease 58 0.065
242
c FTL006 Fetal Alcohol Spectrum Disorder 48 0.065
243
CNG034 Congestive Heart Failure 74 0.065
244
SQM013 Squamous Cell Carcinoma, Head and Neck 79 0.064
245
GGN002 Gigantism 36 0.064
246
c LKM071 Leukemia, Chronic Lymphocytic 75 0.064
247
OST062 Osteoarthritis with Mild Chondrodysplasia 43 0.064
248
P PNM007 Pneumonia 70 0.064
249
P GLM040 Glioma Susceptibility 1 51 0.064
250
GST019 Gastrointestinal Stromal Tumor 74 0.064
251
ALR002 Al-Raqad Syndrome 30 0.063
252
EWN003 Ewing Sarcoma 72 0.063
253
P CTR002 Cataract 60 0.063
254
ART016 Aortic Aneurysm 70 0.063
255
LMY014 Leiomyoma, Uterine 61 0.063
256
P MYC084 Mycobacterium Tuberculosis 1 69 0.063
257
P CRN037 Craniosynostosis 68 0.063
258
HYP080 Hypogonadism 54 0.063
259
c EXD008 Exudative Vitreoretinopathy 1 65 0.063
260
CRB037 Cerebral Palsy 70 0.063
261
P PHC003 Pheochromocytoma 72 0.063
262
MCL006 Macular Retinal Edema 51 0.063
263
c LKM004 Leukemia, B-Cell, Chronic 37 0.062
264
SWL001 Swallowing Disorders 36 0.062
265
P ART023 Arthropathy 68 0.062
266
GND003 Gonadal Disease 32 0.062
267
P TCL004 T-Cell Leukemia 50 0.061
268
PST011 Pustulosis of Palm and Sole 47 0.061
269
P ART021 Arteriosclerosis 62 0.061
270
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.061
271
ORL011 Oral Cancer 60 0.061
272
CRH001 Crohn's Disease 80 0.061
273
P BRN120 Bronchus Cancer 39 0.061
274
ISL014 Isolated Growth Hormone Deficiency, Type Ia 47 0.061
275
ACT084 Acute Stress Disorder 35 0.060
276
P GLM007 Glomerulonephritis 61 0.060
277
P PLY014 Polycystic Kidney Disease 60 0.060
278
PNC033 Pancreas Adenocarcinoma 63 0.060
279
RCK004 Rickets 63 0.060
280
GLC008 Glucose Metabolism Disease 38 0.060
281
P RTT002 Rett Syndrome 82 0.059
282
HDC001 Headache 55 0.059
283
LYM019 Lymphosarcoma 58 0.059
284
ISC006 Ischemic Heart Disease 73 0.059
285
PLC005 Placental Insufficiency 59 0.059
286
P PLM037 Pulmonary Hypertension 79 0.059
287
P SHR001 Short Bowel Syndrome 52 0.058
288
c MJR024 Major Affective Disorder 9 31 0.058
289
c MJR022 Major Affective Disorder 8 31 0.058
290
c MJR008 Major Affective Disorder 2 33 0.058
291
c MJR007 Major Affective Disorder 1 33 0.058
292
CNN005 Connective Tissue Disease 65 0.058
293
P LPD010 Lipodystrophy 57 0.058
294
P THL005 Thalassemia 65 0.058
295
c MJR023 Major Affective Disorder 7 32 0.058
296
P MJR004 Major Affective Disorder 4 29 0.058
297
SPS057 Spasticity 41 0.058
298
NRN004 Neuroendocrine Tumor 58 0.058
299
c MJR003 Major Affective Disorder 6 28 0.057
300
OVR063 Overnutrition 53 0.057
301
HYP066 Hyperglycemia 64 0.057
302
P TBR001 Tuberous Sclerosis 69 0.057
303
P CHR084 Chromosomal Disease 40 0.057
304
P FBR017 Fibrosarcoma 61 0.057
305
P HYP069 Hyperparathyroidism 58 0.057
306
P SLV001 Silver-Russell Syndrome 57 0.057
307
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.057
308
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.057
309
P RHN004 Rhinitis 62 0.057
310
c CNT075 Central Precocious Puberty 52 0.057
311
CLF027 Cleft Palate, Isolated 61 0.056
312
MRF001 Marfan Syndrome 75 0.056
313
PLM134 Pulmonary Fibrosis, Idiopathic 73 0.056
314
GST033 Gestational Diabetes 62 0.056
315
GST040 Gastric Adenocarcinoma 60 0.056
316
GLC003 Glucose Intolerance 58 0.056
317
c ACT075 Acute Myocardial Infarction 64 0.056
318
END041 Endometrial Adenocarcinoma 59 0.056
319
MVM001 Movement Disease 40 0.056
320
RHM027 Rheumatic Disease 62 0.056
321
ISL114 Isolated Growth Hormone Deficiency, Type Ii 46 0.056
322
OST011 Osteomalacia 52 0.056
323
P CYS018 Cystitis 57 0.056
324
P GND004 Gonadal Dysgenesis 50 0.055
325
c MJR006 Major Affective Disorder 5 25 0.055
326
P MNN013 Meningitis 71 0.055
327
LPD008 Lipid Metabolism Disorder 59 0.055
328
SFT003 Soft Tissue Sarcoma 58 0.055
329
OVR029 Ovarian Hyperstimulation Syndrome 64 0.055
330
c LKM056 Leukemia, Chronic Lymphocytic 2 35 0.055
331
P DRR001 Diarrhea 60 0.055
332
SKL017 Skeletal Dysplasias 48 0.055
333
P HMN010 Hemangioma 61 0.055
334
DYS009 Dysthymic Disorder 42 0.055
335
P PLY018 Polycythemia 60 0.055
336
HMT018 Hematopoietic Stem Cell Transplantation 58 0.055
337
SVR004 Severe Combined Immunodeficiency 71 0.055
338
GLL008 Gilles De La Tourette Syndrome 64 0.054
339
APL001 Aplastic Anemia 74 0.054
340
CRN036 Craniopharyngioma 63 0.054
341
DRM006 Dermatitis 67 0.054
342
P ENC004 Encephalitis 66 0.054
343
ISL115 Isolated Growth Hormone Deficiency, Type Iii 42 0.054
344
LYM024 Lymphatic System Disease 45 0.054
345
P ATX030 Ataxia-Telangiectasia 80 0.053
346
P PRK057 Parkinson Disease, Late-Onset 78 0.053
347
P GRF003 Graft-Versus-Host Disease 72 0.053
348
HDN002 Head Injury 48 0.053
349
ALL026 Allergic Hypersensitivity Disease 59 0.053
350
P NTR004 Neutropenia 60 0.053
351
RSP006 Respiratory System Disease 63 0.053
352
CMB081 Combined Immunodeficiency, X-Linked 64 0.053
353
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.053
354
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.053
355
c ACT073 Acute Leukemia 61 0.053
356
DFF005 Diffuse Large B-Cell Lymphoma 64 0.053
357
P SCL018 Scoliosis 56 0.053
358
SPP011 Suppression of Tumorigenicity 12 41 0.052
359
P CHL069 Cholesteatoma 52 0.052
360
P HYD006 Hydrocephalus 68 0.052
361
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.052
362
P THR117 Three M Syndrome 1 52 0.052
363
ALP072 Alpha-Fetoprotein Deficiency 32 0.052
364
c TRC078 Trichohepatoenteric Syndrome 2 34 0.052
365
HYP020 Hyperprolactinemia 64 0.052
366
HYP730 Hypogonadotropic Hypogonadism 56 0.052
367
P RTN016 Retinal Degeneration 56 0.052
368
P BLD051 Blood Coagulation Disease 38 0.052
369
PLY001 Polycythemia Vera 75 0.052
370
P INT143 Interstitial Cystitis 63 0.051
371
BRN056 Bronchopulmonary Dysplasia 61 0.051
372
P RTN022 Retinal Vein Occlusion 53 0.051
373
URM002 Uremia 52 0.051
374
SCK005 Sickle Cell Disease 54 0.051
375
P CLL015 Collagen Disease 53 0.051
376
HPT022 Hepatoblastoma 55 0.051
377
c PRM196 Premature Ovarian Failure 1 68 0.051
378
P HRD009 Hereditary Wilms' Tumor 46 0.051
379
P ALC004 Alcohol Abuse 63 0.051
380
P INF038 Influenza 77 0.051
381
MTH009 Mouth Disease 64 0.051
382
P ATR011 Atrial Fibrillation 68 0.051
383
P HMR003 Hemorrhagic Disease 61 0.050
384
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 54 0.050
385
IRN002 Iron Metabolism Disease 45 0.050
386
P HRP006 Herpes Simplex 70 0.050
387
GST023 Gastric Ulcer 57 0.050
388
GTR002 Goiter 53 0.050
389
DBT062 Diabetic Foot Ulcers 59 0.050
390
P THR014 Thrombocytopenia 65 0.050
391
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.050
392
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.050
393
SBS004 Substance Dependence 51 0.049
394
ENT004 Enthesopathy 38 0.049
395
FTT001 Fatty Liver Disease 62 0.049
396
P PRC031 Preeclampsia/eclampsia 1 41 0.049
397
VTR013 Vitreoretinopathy, Neovascular Inflammatory 61 0.049
398
DBT006 Diabetic Macular Edema 49 0.049
399
SPC010 Speech and Communication Disorders 40 0.049
400
PRD007 Periodontal Disease 64 0.049
401
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.049
402
WLL001 Williams-Beuren Syndrome 63 0.049
403
c ADL017 Adult T-Cell Leukemia 63 0.049
404
P CHR285 Chronic Myelomonocytic Leukemia 63 0.049
405
BCL014 B-Cell Growth Factor 42 0.049
406
P ACT074 Acute Lymphocytic Leukemia 61 0.049
407
NRT004 Neuritis 55 0.049
408
BSL008 Basal Ganglia Disease 44 0.048
409
AVD001 Avoidant Personality Disorder 43 0.048
410
LYM143 Lymphoma, Non-Hodgkin, Familial 71 0.048
411
PRP030 Purpura 61 0.048
412
FCT008 Factitious Disorder 35 0.048
413
CLN019 Colonic Disease 55 0.048
414
HYP017 Hypophosphatemia 45 0.048
415
P CHN012 Chondrosarcoma 56 0.048
416
P BCK002 Beckwith-Wiedemann Syndrome 58 0.048
417
CRB039 Cerebrovascular Disease 68 0.048
418
HYP457 Hypertrophic Scars 48 0.047
419
P ALP009 Alopecia Areata 64 0.047
420
P GRM010 Germ Cells Tumors 37 0.047
421
PTH002 Pathological Gambling 53 0.047
422
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53 0.047
423
MYL031 Myeloproliferative Neoplasm 64 0.047
424
MLR004 Malaria 86 0.047
425
HPT082 Hepatic Adenomas, Familial 52 0.046
426
P CLC063 Celiac Disease 1 65 0.046
427
c MTR002 Mitral Valve Insufficiency 46 0.046
428
P GRV001 Graves' Disease 62 0.046
429
SPT006 Septooptic Dysplasia 54 0.046
430
DDN006 Duodenitis 46 0.046
431
GNT050 Genitourinary Tract Anomalies 41 0.046
432
c PTT056 Pituitary Adenoma 1, Multiple Types 46 0.046
433
PMS001 Poems Syndrome 64 0.046
434
ALL003 Allergic Rhinitis 68 0.046
435
ISL015 Isolated Growth Hormone Deficiency, Type Ib 44 0.046
436
END040 Endogenous Depression 53 0.046
437
SCK003 Sickle Cell Anemia 73 0.046
438
c TBR025 Tuberous Sclerosis 1 63 0.046
439
LRN003 Learning Disability 49 0.046
440
PPL022 Papilloma 58 0.046
441
ULC004 Ulcerative Colitis 80 0.046
442
MNT001 Mantle Cell Lymphoma 76 0.046
443
HYP064 Hypogonadotropism 38 0.046
444
c BRN108 Branchiootic Syndrome 1 47 0.046
445
VSC008 Vascular Hemostatic Disease 36 0.045
446
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52 0.045
447
MCC012 Mccune-Albright Syndrome 65 0.045
448
DSS010 Dissociative Disorder 34 0.045
449
BLR001 Biliary Atresia 56 0.045
450
GST045 Gastroenteritis 65 0.045
451
P MSC003 Muscular Atrophy 55 0.045
452
P THR015 Thrombophilia 58 0.045
453
ADN002 Adenoiditis 40 0.045
454
DBT010 Diabetic Neuropathy 60 0.045
455
P GLY013 Glycogen Storage Disease 61 0.045
456
HSH003 Hashimoto Thyroiditis 67 0.045
457
HYP042 Hypochondroplasia 57 0.045
458
CHL068 Cholestasis 60 0.045
459
CNN003 Conn's Syndrome 70 0.045
460
PNC034 Pancreas Disease 59 0.045
461
P CNJ013 Conjunctivitis 67 0.044
462
BRN028 Brain Cancer 72 0.044
463
MYF002 Myofascial Pain Syndrome 44 0.044
464
P FTL001 Fetal Alcohol Syndrome 59 0.044
465
OLG003 Oligohydramnios 41 0.044
466
c JVN010 Juvenile Rheumatoid Arthritis 71 0.044
467
P DRM053 Dermatitis, Atopic 68 0.044
468
P DLT002 Dilated Cardiomyopathy 76 0.044
469
STR067 Stroke, Ischemic 84 0.044
470
AND014 Androgenic Alopecia 39 0.044
471
P ASP001 Asperger Syndrome 51 0.044
472
END030 End Stage Renal Failure 59 0.044
473
TBC004 Tobacco Addiction 55 0.044
474
c DPH024 Diaphragmatic Hernia, Congenital 63 0.044
475
SPN186 Spinal Cord Injury 67 0.044
476
BNF002 Bone Fracture 56 0.044
477
MLB001 Mulibrey Nanism 46 0.044
478
PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48 0.044
479
DPH001 Diphtheria 63 0.044
480
P GST044 Gastritis 61 0.043
481
P TRC086 Trichohepatoenteric Syndrome 1 54 0.043
482
HYP043 Hyperandrogenism 50 0.043
483
SPC005 Speech Disorder 44 0.043
484
HMN044 Human Immunodeficiency Virus Type 1 71 0.043
485
P THN009 Thanatophoric Dysplasia, Type I 66 0.043
486
c MYT021 Myotonic Dystrophy 1 68 0.043
487
MLT157 Multiple System Atrophy 1 65 0.043
488
c LKM062 Leukemia, Acute Lymphoblastic 64 0.043
489
STM007 Stomatitis 52 0.043
490
EWN002 Ewing's Family of Tumors 49 0.043
491
LMB062 Limb Ischemia 52 0.043
492
AMN001 Amenorrhea 55 0.043
493
BRS050 Breast Cyst 36 0.043
494
P PSD015 Pseudohypoparathyroidism 50 0.043
495
IRR002 Irritable Bowel Syndrome 63 0.042
496
P AMY004 Amyloidosis 69 0.042
497
PLY150 Polykaryocytosis Inducer 20 0.042
498
BRT054 Brittle Bone Disorder 67 0.042
499
ADR054 Adrenocortical Carcinoma, Hereditary 63 0.042
500
c HYP595 Hypertension, Essential 78 0.042
501
P HMN036 Hemangiopericytoma, Malignant 52 0.042
502
P HYP076 Hyperthyroidism 56 0.042
503
c MLT156 Multiple Endocrine Neoplasia, Type I 70 0.042
504
HYP070 Hyperpituitarism 43 0.042
505
GRW003 Growth Hormone Insensitivity with Immunodeficiency 21 0.042
506
BLD053 Blood Platelet Disease 45 0.042
507
RCT017 Rectal Disease 38 0.042
508
NRL016 Neural Tube Defects 79 0.042
509
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 46 0.041
510
THY030 Thyroid Gland Disease 51 0.041
511
ALP046 Alport Syndrome, X-Linked 74 0.041
512
CHR066 Chronic Fatigue Syndrome 67 0.041
513
P HMP007 Hemophilia 61 0.041
514
CRZ001 Crouzon Syndrome 71 0.041
515
ECT006 Ectodermal Dysplasia 57 0.041
516
ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 36 0.041
517
SLP010 Slipped Capital Femoral Epiphysis 37 0.041
518
P SCL057 Scoliosis, Isolated 1 28 0.041
519
ISL001 Islet Cell Tumor 54 0.041
520
CRN027 Corneal Neovascularization 51 0.041
521
DYS073 Dysphagia 47 0.041
522
ACR006 Aceruloplasminemia 65 0.041
523
VRL011 Viral Infectious Disease 64 0.041
524
WRN001 Werner Syndrome 70 0.041
525
P EXN002 Exanthem 62 0.041
526
ACT119 Acute Promyelocytic Leukemia 64 0.040
527
c ATS347 Autosomal Dominant Polycystic Kidney Disease 61 0.040
528
P ANP001 Anaplastic Large Cell Lymphoma 60 0.040
529
CMM004 Common Variable Immunodeficiency 71 0.040
530
CYS010 Cystinosis 55 0.040
531
P NRC002 Narcolepsy 64 0.040
532
c BSL007 Basal Cell Carcinoma 66 0.040
533
ENT011 Enterocolitis 52 0.040
534
MTR014 Motor Neuron Disease 62 0.040
535
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.040
536
CST001 Costello Syndrome 67 0.040
537
P HYP726 Hypercalcemia, Infantile, 1 57 0.040
538
c CNG006 Congenital Hypothyroidism 62 0.040
539
MGR028 Migraine with or Without Aura 1 55 0.040
540
MNG003 Mungan Syndrome 34 0.040
541
TTH006 Tooth Disease 54 0.040
542
P PLY019 Polyneuropathy 58 0.040
543
P MYT002 Myotonic Dystrophy 50 0.040
544
STM006 Stomach Disease 52 0.040
545
PRT038 Protein-Energy Malnutrition 52 0.040
546
PRN019 Perinatal Necrotizing Enterocolitis 56 0.040
547
P BRS044 Breast Adenocarcinoma 58 0.040
548
CRN025 Corneal Dystrophy 42 0.040
549
DBT008 Diabetic Angiopathy 48 0.040
550
CHN070 Cohen-Gibson Syndrome 51 0.040
551
P CHR345 Chronic Pain 52 0.040
552
BLD163 Blood Group, Dombrock System 23 0.039
553
INS001 Insulinoma 66 0.039
554
PHN003 Phenylketonuria 73 0.039
555
LYM067 Lymphoid Leukemia 43 0.039
556
CCN001 Cocaine Dependence 52 0.039
557
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.039
558
PRP019 Peripheral Nervous System Disease 53 0.039
559
CHL123 Chlamydia 64 0.039
560
THY111 Thyroid Carcinoma, Familial Medullary 63 0.039
561
KWR001 Kowarski Syndrome 20 0.039
562
P EST001 Estrogen-Receptor Positive Breast Cancer 52 0.039
563
PRM013 Premature Menopause 45 0.039
564
PLS011 Plasmacytoma 60 0.039
565
P MLT074 Multiple Endocrine Neoplasia 55 0.039
566
SCN001 Secondary Hyperparathyroidism of Renal Origin 40 0.039
567
HLL004 Hellp Syndrome 53 0.039
568
P STS008 Sotos Syndrome 1 56 0.039
569
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.039
570
P STR035 Streptococcal Group a Invasive Disease 28 0.039
571
PRP080 Peripheral Artery Disease 54 0.039
572
ESP023 Esophageal Disease 58 0.039
573
PRX034 Peroxisome Disorders 20 0.039
574
P DBT005 Diabetes Insipidus 54 0.039
575
PLS009 Plasma Cell Neoplasm 51 0.039
576
P FNC027 Fanconi Anemia, Complementation Group a 78 0.039
577
THR100 Thrombocytopenic Purpura, Autoimmune 57 0.038
578
ANX004 Anoxia 49 0.038
579
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29 0.038
580
c BTT014 Beta-Thalassemia 70 0.038
581
GLS001 Gliosarcoma 61 0.038
582
c CNT016 Central Retinal Vein Occlusion 50 0.038
583
EPP010 Epiphysiolysis of the Hip 20 0.038
584
P CTS001 Cutis Laxa 62 0.038
585
BRT005 Barth Syndrome 52 0.038
586
P NPH012 Nephrotic Syndrome 60 0.038
587
c INF145 Infantile Liver Failure Syndrome 1 33 0.038
588
c VRL010 Viral Hepatitis 59 0.038
589
DMY004 Demyelinating Disease 58 0.038
590
ACT118 Acute Non Lymphoblastic Leukemia 32 0.038
591
c BSL024 Basal Cell Carcinoma 1 42 0.038
592
ADR004 Adrenal Cortical Adenocarcinoma 47 0.038
593
P TRM003 Tremor 54 0.038
594
CRB025 Carbohydrate Metabolic Disorder 38 0.038
595
MYM001 Myoma 56 0.038
596
BRC012 Brucellosis 71 0.038
597
SPN041 Spinal Cord Disease 54 0.038
598
HRY003 Hairy Cell Leukemia 60 0.038
599
IDP070 Idiopathic Scoliosis 42 0.038
600
P MNC007 Monocytic Leukemia 59 0.038
601
P HYP087 Hypotrichosis 48 0.038
602
SXL003 Sexual Disorder 45 0.038
603
DFC004 Deficiency Anemia 62 0.037
604
PRS042 Prostate Disease 56 0.037
605
IRN001 Iron Deficiency Anemia 55 0.037
606
P ESS003 Essential Thrombocythemia 71 0.037
607
P HST010 Histiocytosis 60 0.037
608
NRV006 Nervous System Cancer 61 0.037
609
P CTN015 Cutaneous T Cell Lymphoma 56 0.037
610
P NRF023 Neurofibromatosis, Type Ii 69 0.037
611
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.037
612
c ACT027 Acute Pancreatitis 61 0.037
613
OST016 Osteochondrosis 52 0.037
614
c ACT135 Acute Graft Versus Host Disease 57 0.037
615
P HYP024 Hypoparathyroidism 55 0.037
616
ACN002 Acanthosis Nigricans 60 0.037
617
HMS001 Hemosiderosis 50 0.037
618
HLC007 Helicobacter Pylori Infection 64 0.037
619
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 0.037
620
HYP068 Hyperostosis 52 0.037
621
HYP025 Hyperphosphatemia 48 0.037
622
OPT003 Opiate Dependence 54 0.037
623
GNG012 Gingival Overgrowth 52 0.037
624
GRW023 Growth Hormone Deficiency, Isolated Partial 29 0.037
625
VNH007 Von Hippel-Lindau Syndrome 72 0.037
626
P DYS005 Dyslexia 39 0.036
627
RTN017 Retinal Detachment 59 0.036
628
P FRG001 Fragile X Syndrome 69 0.036
629
IMM158 Immune Suppression 57 0.036
630
MSC157 Muscular Dystrophy, Duchenne Type 74 0.036
631
CYT008 Cytomegalovirus Infection 57 0.036
632
PSD012 Pseudoachondroplasia 52 0.036
633
DBW001 Dubowitz Syndrome 44 0.036
634
GST009 Gastroschisis 55 0.036
635
ANG054 Angina Pectoris 53 0.036
636
PTT041 Pituitary Stalk Interruption Syndrome 47 0.036
637
ADN027 Adenomyosis 57 0.036
638
ADR007 Adrenoleukodystrophy 72 0.036
639
DYS014 Dyspepsia 54 0.036
640
KWS002 Kawasaki Disease 72 0.036
641
c CTR122 Cataract 5, Multiple Types 38 0.036
642
APR006 Apert Syndrome 69 0.036
643
HML018 Homologous Wasting Disease 18 0.036
644
c ACT134 Acute Liver Failure 52 0.036
645
RFR003 Refractive Error 45 0.036
646
P KLL001 Kallmann Syndrome 63 0.036
647
RNL011 Renal Osteodystrophy 49 0.036
648
PHR003 Pharyngitis 59 0.036
649
JCB001 Jacobsen Syndrome 50 0.036
650
P INT030 Intracranial Aneurysm 58 0.036
651
WLF002 Wolf-Hirschhorn Syndrome 54 0.036
652
P EPN002 Ependymoma 53 0.036
653
HYP077 Hypertrichosis 49 0.036
654
PST021 Postpartum Depression 54 0.035
655
P ANT006 Antiphospholipid Syndrome 59 0.035
656
BCK006 Back Pain 46 0.035
657
ATN005 Autonomic Dysfunction 51 0.035
658
c HPT003 Hepatitis a 63 0.035
659
P DYS021 Dysautonomia 47 0.035
660
TRD006 Tardive Dyskinesia 59 0.035
661
SNS001 Sensorineural Hearing Loss 59 0.035
662
KRT019 Keratitis, Hereditary 62 0.035
663
P HRD021 Hereditary Sensory Neuropathy 47 0.035
664
ANH002 Anhidrosis 45 0.035
665
PRT037 Pertussis 70 0.035
666
KWS001 Kwashiorkor 43 0.035
667
P THY023 Thymoma 65 0.035
668
GNG011 Gingival Disease 50 0.035
669
c JVN004 Juvenile Myelomonocytic Leukemia 70 0.035
670
GST092 Gastroesophageal Reflux 64 0.035
671
P DYS007 Dyskeratosis Congenita 68 0.035
672
BLM001 Bloom Syndrome 62 0.035
673
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 44 0.035
674
P AGM001 Agammaglobulinemia 70 0.035
675
P HYP061 Hypertrophic Cardiomyopathy 65 0.035
676
P END047 Endophthalmitis 51 0.035
677
ART005 Arteriovenous Malformation 64 0.035
678
P CRN015 Cornelia De Lange Syndrome 65 0.035
679
c SPN225 Spondyloarthropathy 1 71 0.035
680
GPS001 Gapo Syndrome 36 0.034
681
P HRD018 Hair Disease 53 0.034
682
BRN038 Bronchial Disease 58 0.034
683
PRM042 Primary Effusion Lymphoma 61 0.034
684
P JBR020 Joubert Syndrome 1 68 0.034
685
INT066 Interstitial Lung Disease 63 0.034
686
MYC006 Mycosis Fungoides 73 0.034
687
c ERL020 Early-Onset Schizophrenia 51 0.034
688
PND004 Pandas 34 0.034
689
ZLL002 Zollinger-Ellison Syndrome 57 0.034
690
P OVR046 Ovarian Cyst 52 0.034
691
c ACT210 Acute Respiratory Distress Syndrome 63 0.034
692
ATN011 Autoinflammation with Infantile Enterocolitis 39 0.034
693
CRT049 Critical Limb Ischemia 56 0.034
694
P EHL001 Ehlers-Danlos Syndrome 61 0.034
695
SMT004 Smith-Lemli-Opitz Syndrome 70 0.034
696
MTB004 Metabolic Acidosis 49 0.034
697
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 39 0.034
698
LKD001 Leukodystrophy 57 0.034
699
FXF002 Fox-Fordyce Disease 40 0.034
700
MCR013 Microphthalmia 61 0.034
701
CLC006 Calcinosis 51 0.034
702
LYS002 Lysosomal Storage Disease 56 0.034
703
KPS004 Kaposi Sarcoma 73 0.034
704
CRT002 Cartilage-Hair Hypoplasia 58 0.034
705
MYL020 Myelomeningocele 54 0.034
706
NRM004 Neuroma 51 0.034
707
CRB086 Cerebral Aneurysms 42 0.034
708
P ZLL001 Zellweger Syndrome 56 0.034
709
P SMK004 Smoking As a Quantitative Trait Locus 3 34 0.034
710
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.034
711
HST009 Histiocytoma 51 0.034
712
c INF071 Inflammatory Bowel Disease 1 54 0.034
713
SYN005 Synostosis 50 0.034
714
c THY107 Thymoma, Familial 34 0.034
715
PNC001 Pancytopenia 50 0.034
716
ARC002 Arachnoiditis 45 0.034
717
CHL078 Childhood-Onset Schizophrenia 35 0.033
718
c THR092 Thrombophilia Due to Thrombin Defect 61 0.033
719
P NJM001 Nijmegen Breakage Syndrome 69 0.033
720
LYM007 Lymphangioleiomyomatosis 68 0.033
721
PLM014 Pleomorphic Adenoma 55 0.033
722
VCC001 Vaccinia 50 0.033
723
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.033
724
P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 0.033
725
P WSK001 Wiskott-Aldrich Syndrome 76 0.033
726
P CMR001 Camurati-Engelmann Disease 62 0.033
727
P LCT001 Lactic Acidosis 51 0.033
728
P RHZ001 Rhizomelic Chondrodysplasia Punctata 49 0.033
729
P HYP040 Hypospadias 60 0.033
730
CHR103 Charge Syndrome 59 0.033
731
ATM052 Autoimmune Disease 1 30 0.033
732
c CNG415 Congenital Disorder of Glycosylation, Type Ia 53 0.033
733
P AGM019 Agammaglobulinemia, X-Linked 69 0.033
734
P DRM010 Dermatomyositis 65 0.033
735
OST159 Osteogenic Sarcoma 70 0.033
736
NNL002 Nonalcoholic Steatohepatitis 56 0.033
737
FNC007 Functioning Pituitary Adenoma 37 0.033
738
P DMN001 Diamond-Blackfan Anemia 70 0.033
739
VSC011 Vasculitis 66 0.033
740
LSC001 Lesch-Nyhan Syndrome 62 0.033
741
c CHR579 Chiari Malformation Type Ii 42 0.033
742
SPN051 Spondylitis 55 0.033
743
ANG018 Angiomyolipoma 50 0.033
744
P LCH002 Lichen Planus 58 0.032
745
MNK001 Menkes Disease 64 0.032
746
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.032
747
IGR001 Ige Responsiveness, Atopic 56 0.032
748
P PRT013 Portal Hypertension 59 0.032
749
P MYS003 Myasthenia Gravis 73 0.032
750
VSC002 Vascular Dementia 58 0.032
751
PPL002 Papillary Carcinoma 51 0.032
752
NNF007 Non-Functioning Pituitary Adenoma 47 0.032
753
INT303 Intracranial Hypertension, Idiopathic 49 0.032
754
P RTN008 Retinitis Pigmentosa 81 0.032
755
c PSD108 Pseudohypoparathyroidism, Type Ia 57 0.032
756
INF009 Inflammatory Spondylopathy 32 0.032
757
P DDN001 Duodenal Ulcer 53 0.032
758
P OBS001 Obstructive Jaundice 53 0.032
759
FBR009 Fibrous Dysplasia 49 0.032
760
P FML011 Familial Adenomatous Polyposis 71 0.032
761
DNH001 Donohue Syndrome 60 0.032
762
TST014 Testicular Cancer 54 0.032
763
URT001 Urethritis 44 0.032
764
P MRG008 Meier-Gorlin Syndrome 1 42 0.032
765
P ACT010 Acth-Secreting Pituitary Adenoma 58 0.032
766
P HYP055 Hypoplastic Left Heart Syndrome 63 0.032
767
P OLG002 Oligodendroglioma 59 0.032
768
P ICH004 Ichthyosis 54 0.032
769
ERY003 Erythema Multiforme 60 0.032
770
c ALP061 Alopecia, Androgenetic, 1 44 0.031
771
GRC001 Gracile Syndrome 31 0.031
772
PHL006 Phelan-Mcdermid Syndrome 53 0.031
773
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.031
774
NRR002 Norrie Disease 61 0.031
775
FBR012 Fabry Disease 72 0.031
776
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.031
777
FRN006 Frontotemporal Dementia 70 0.031
778
CRB045 Cerebellar Hypoplasia 48 0.031
779
P ANG001 Angelman Syndrome 61 0.031
780
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.031
781
BRN080 Brain Ischemia 45 0.031
782
CRN024 Corneal Disease 47 0.031
783
AYM001 Ayme-Gripp Syndrome 40 0.031
784
PLL001 Pallister-Hall Syndrome 59 0.031
785
FBR003 Fibrous Histiocytoma 46 0.031
786
EPD016 Epidermolysis Bullosa 57 0.031
787
CHY002 Chylomicron Retention Disease 54 0.031
788
P MYM013 Moyamoya Disease 1 50 0.031
789
SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 27 0.031
790
P TRT010 Teratoma 53 0.031
791
GRW032 Growth Factors, Combined Defect of 22 0.031
792
P PLM034 Pulmonary Emphysema 59 0.031
793
PRP036 Peripheral T-Cell Lymphoma 48 0.031
794
DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42 0.031
795
PPL059 Popliteal Pterygium Syndrome, Lethal Type 37 0.031
796
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.031
797
MSL001 Measles 64 0.031
798
ACS001 Acoustic Neuroma 60 0.031
799
ARM001 Aromatase Deficiency 52 0.031
800
HMT002 Hematologic Cancer 64 0.031
801
SDD001 Sudden Infant Death Syndrome 61 0.031
802
P HRD008 Hereditary Hemorrhagic Telangiectasia 72 0.031
803
END028 Endemic Goiter 40 0.031
804
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 62 0.031
805
HPT019 Hepatic Encephalopathy 59 0.031
806
LYM040 Lymphoblastic Lymphoma 58 0.031
807
SPN369 Spinal Disease 42 0.031
808
P CRB059 Cerebellar Degeneration 40 0.031
809
CRT072 Creutzfeldt-Jakob Disease 65 0.031
810
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.031
811
MRB003 Morbid Obesity 61 0.031
812
FDL002 Food Allergy 55 0.031
813
KRT009 Keratosis 53 0.031
814
P RNL007 Renal Tubular Acidosis 51 0.031
815
EMP001 Empty Sella Syndrome 42 0.031
816
P ORT004 Orthostatic Intolerance 68 0.030
817
P LMY004 Leiomyosarcoma 59 0.030
818
BRN004 Brain Edema 57 0.030
819
c HYP543 Hypoplastic Left Heart Syndrome 1 38 0.030
820
c CTR119 Cataract 32, Multiple Types 32 0.030
821
P FLL037 Follicular Lymphoma 76 0.030
822
BRK010 Burkitt Lymphoma 71 0.030
823
LKC003 Leukocyte Disease 34 0.030
824
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.030
825
P VNS003 Venous Insufficiency 53 0.030
826
c 3MT014 3-Methylglutaconic Aciduria, Type V 40 0.030
827
P CHR071 Charcot-Marie-Tooth Disease 67 0.030
828
HYP347 Hypotonia-Cystinuria Syndrome 47 0.030
829
PLY112 Polyarteritis Nodosa, Childhood-Onset 39 0.030
830
P CCK001 Cockayne Syndrome 64 0.030
831
P INT001 Intrahepatic Cholestasis 62 0.030
832
P RBL001 Rubella 61 0.030
833
WLS001 Wilson Disease 72 0.030
834
P TST021 Testicular Germ Cell Tumor 70 0.030
835
ONC003 Oncogenic Osteomalacia 45 0.030
836
c TST046 Testicular Germ Cell Tumor 1 26 0.030
837
P PRG013 Paraganglioma 57 0.030
838
RFS006 Refsum Disease, Classic 63 0.030
839
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.030
840
GRW026 Growth Hormone Insensitivity, Partial 27 0.030
841
P HYP098 Hypereosinophilic Syndrome 65 0.030
842
INC021 Incontinentia Pigmenti 57 0.030
843
P RSP003 Respiratory Failure 71 0.030
844
c NRF024 Neurofibromatosis, Type I 63 0.030
845
ARS001 Aarskog-Scott Syndrome 55 0.030
846
RFR010 Refractory Anemia 48 0.030
847
MRG013 Mirage Syndrome 44 0.030
848
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 0.030
849
MGK001 Megakaryocytic Leukemia 63 0.030
850
P PTS002 Ptosis 50 0.030
851
P MYS005 Myositis 63 0.030
852
MCR004 Macroglobulinemia 54 0.030
853
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.030
854
NLX004 Neu-Laxova Syndrome 1 49 0.030
855
P UVT001 Uveitis 61 0.030
856
ADR013 Adrenal Gland Hyperfunction 54 0.030
857
P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33 0.030
858
ILT001 Ileitis 52 0.029
859
FCL012 Facial Paralysis 50 0.029
860
BLD138 Blood Group--Diego System 18 0.029
861
AML029 Ameloblastoma 51 0.029
862
c EST002 Estrogen-Receptor Negative Breast Cancer 44 0.029
863
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.029
864
c PRM005 Primary Hyperparathyroidism 59 0.029
865
LYS003 Lysinuric Protein Intolerance 53 0.029
866
MXD001 Mixed Cerebral Palsy 20 0.029
867
P NMN002 Niemann-Pick Disease 68 0.029
868
HMG005 Hemoglobinopathy 53 0.029
869
ADP007 Adie Pupil 41 0.029
870
P SPN046 Spinal Muscular Atrophy 63 0.029
871
VTM002 Vitamin B12 Deficiency 46 0.029
872
c MCL062 Mucolipidosis Ii Alpha/beta 58 0.029
873
TRN015 Transient Cerebral Ischemia 58 0.029
874
P PLY006 Polydactyly 57 0.029
875
MRK001 Merkel Cell Carcinoma 59 0.029
876
PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 53 0.029
877
P LYD001 Leydig Cell Tumor 47 0.029
878
BRN003 Branchiooculofacial Syndrome 46 0.029
879
SPR008 Supratentorial Primitive Neuroectodermal Tumor 44 0.029
880
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.029
881
SHR108 Short Stature, Idiopathic, X-Linked 29 0.029
882
VGN023 Vaginitis 59 0.029
883
MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19 0.029
884
RBR001 Roberts Syndrome 55 0.029
885
PTT004 Pituitary Apoplexy 47 0.029
886
PRG123 Progeroid Syndrome, Neonatal 30 0.029
887
CNS004 Constipation 57 0.029
888
PRV004 Periventricular Leukomalacia 53 0.029
889
CRN031 Cranial Nerve Disease 45 0.029
890
46X055 46,xy Sex Reversal 3 33 0.029
891
P PRT008 Proteus Syndrome 67 0.029
892
P MYC008 Myocarditis 58 0.029
893
SYS004 Systemic Mastocytosis 65 0.029
894
P PMP001 Pemphigus 55 0.029
895
PFF001 Pfeiffer Syndrome 74 0.029
896
P HMR012 Hemorrhagic Fever 60 0.029
897
c CNG124 Congenital Rubella 47 0.029
898
MCL027 Macular Dystrophy, Dominant Cystoid 45 0.029
899
MYH012 Myhre Syndrome 41 0.029
900
CCN002 Cocaine Abuse 50 0.029
901
P HMC002 Homocystinuria 50 0.029
902
ADR012 Adrenal Gland Disease 51 0.029
903
P SML001 Small Cell Carcinoma 58 0.029
904
ECT026 Ectopic Pregnancy 52 0.029
905
P PRL003 Proliferative Glomerulonephritis 45 0.029
906
HTC003 Hutchinson-Gilford Progeria Syndrome 62 0.028
907
P ASP006 Aspergillosis 65 0.028
908
BRN002 Bronchiolitis 59 0.028
909
P FNC004 Fanconi Syndrome 54 0.028
910
ATN004 Autonomic Neuropathy 46 0.028
911
P LYM025 Lymphedema 63 0.028
912
TNS005 Tonsillitis 61 0.028
913
CLB010 Coloboma of Macula 52 0.028
914
P MRD002 Marden-Walker Syndrome 47 0.028
915
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.028
916
DGR001 Digeorge Syndrome 55 0.028
917
MCP033 Mucopolysaccharidoses 36 0.028
918
ABL002 Ablepharon-Macrostomia Syndrome 55 0.028
919
MLN007 Male Infertility 53 0.028
920
P SYR001 Syringomyelia 49 0.028
921
DYS018 Dysostosis 48 0.028
922
P HNT016 Huntington Disease 78 0.028
923
LNG108 Langerhans Cell Histiocytosis 63 0.028
924
DLY008 Delayed Sleep Phase Disorder 38 0.028
925
SCH014 Schistosomiasis 62 0.028
926
ANK001 Ankylosis 56 0.028
927
c SVR005 Severe Pre-Eclampsia 53 0.028
928
VRC001 Varicocele 52 0.028
929
PYL006 Pyloric Stenosis 47 0.028
930
CYS036 Cystinosis, Nephropathic 47 0.028
931
P VSC018 Visceral Steatosis 38 0.028
932
PRN014 Paronychia 52 0.028
933
MRS001 Marasmus 39 0.028
934
c LBR014 Leber Congenital Amaurosis 4 48 0.028
935
P TTR001 Tetralogy of Fallot 70 0.028
936
DBT004 Diabetic Polyneuropathy 51 0.028
937
c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 45 0.028
938
c CRN243 Carney Complex, Type 1 35 0.028
939
GLC006 Galactosemia 64 0.028
940
ATY042 Atypical Chronic Myeloid Leukemia 51 0.028
941
LYM052 Lymphomatoid Papulosis 45 0.028
942
c CNG403 Congenital Disorder of Glycosylation, Type Ix 29 0.028
943
MTH078 Methylmalonic Aciduria, Cblb Type 56 0.028
944
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.028
945
ANG046 Angioimmunoblastic T-Cell Lymphoma 46 0.028
946
c WLM013 Wilms Tumor 1 69 0.028
947
OTT002 Otitis Media 67 0.028
948
PTR032 Peters-Plus Syndrome 60 0.028
949
ESP020 Esophageal Atresia 54 0.028
950
CHL061 Childhood Leukemia 50 0.028
951
NSD001 Nose Disease 51 0.028
952
PRT029 Parathyroid Adenoma 50 0.028
953
NPH003 Nephrocalcinosis 49 0.028
954
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.028
955
P MTC003 Metachromatic Leukodystrophy 72 0.028
956
VLC001 Velocardiofacial Syndrome 64 0.028
957
ATN002 Autonomic Nervous System Disease 51 0.028
958
P ALG028 Alagille Syndrome 1 68 0.028
959
ANG020 Angiosarcoma 57 0.028
960
MCL003 Macular Holes 44 0.028
961
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23 0.028
962
c CHR417 Chronic Graft Versus Host Disease 65 0.028
963
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.028
964
ARC007 Arachnoid Cysts 39 0.028
965
P BRC006 Brachydactyly 57 0.028
966
P CNT005 Central Nervous System Lymphoma 57 0.028
967
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50 0.028
968
SPL018 Splenomegaly 45 0.028
969
P OST001 Osteopetrosis 70 0.027
970
KRN002 Kearns-Sayre Syndrome 59 0.027
971
PRN023 Prion Disease 51 0.027
972
RFS003 Refsum Disease, Infantile Form 23 0.027
973
LYS012 Lysosomal Acid Lipase Deficiency 60 0.027
974
P ATS366 Autism X-Linked 2 34 0.027
975
P KBK002 Kabuki Syndrome 1 62 0.027
976
BNC003 Bone Cancer 59 0.027
977
KNS001 Kniest Dysplasia 53 0.027
978
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40 0.027
979
P SCK004 Seckel Syndrome 55 0.027
980
INT075 Intracranial Hypertension 53 0.027
981
PRS045 Prostatic Hypertrophy 51 0.027
982
P HYP607 Hypercholesterolemia, Familial 81 0.027
983
STR039 Sturge-Weber Syndrome 59 0.027
984
P CHR012 Chronic Granulomatous Disease 69 0.027
985
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.027
986
P FNC043 Fanconi Anemia, Complementation Group E 52 0.027
987
OST003 Osteonecrosis 63 0.027
988
KRT006 Keratoconjunctivitis 56 0.027
989
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.027
990
BWN001 Bowen-Conradi Syndrome 44 0.027
991
ULC005 Ulcer of Lower Limbs 23 0.027
992
ALC006 Alcoholic Hepatitis 62 0.027
993
ORL004 Oral Submucous Fibrosis 56 0.027
994
P PNM006 Pneumoconiosis 55 0.027
995
P HYP009 Hypertrophic Pyloric Stenosis 45 0.027
996
MMM006 Mammographic Density 43 0.027
997
TRC077 Trichomegaly 40 0.027
998
ARG007 Argininemia 51 0.027
999
RTC005 Reticulosarcoma 49 0.027
1000
P CNN004 Connective Tissue Cancer 35 0.027
1001
ANN002 Anencephaly 57 0.027
1002
GYN001 Gynecomastia 47 0.027
1003
BRN018 Borna Disease 38 0.027
1004
INT002 Intermittent Claudication 61 0.027
1005
ELL001 Ellis-Van Creveld Syndrome 61 0.027
1006
P ORL007 Oral Cavity Cancer 59 0.027
1007
FTL021 Fetal Macrosomia 46 0.027
1008
GLS018 Glass Syndrome 38 0.027
1009
TMP001 Temporal Lobe Epilepsy 54 0.027
1010
PRP016 Paraplegia 53 0.027
1011
HYP007 Hypermobility Syndrome 37 0.027
1012
P XRD010 Xeroderma Pigmentosum, Variant Type 62 0.027
1013
c CNT015 Central Sleep Apnea 45 0.027
1014
CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 21 0.027
1015
SHW002 Shwachman-Diamond Syndrome 63 0.027
1016
PYC001 Pycnodysostosis 51 0.027
1017
c CHR431 Chronic Venous Insufficiency 47 0.027
1018
MLK006 Milk Allergy 46 0.027
1019
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 36 0.027
1020
IMM177 Immunodeficiency 54 22 0.027
1021
GTL001 Gitelman Syndrome 62 0.026
1022
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.026
1023
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.026
1024
P KRT007 Keratoconus 49 0.026
1025
ACT238 Acth Deficiency, Isolated 45 0.026
1026
P RNL045 Renal Tubular Acidosis, Distal 42 0.026
1027
c MYS011 Myasthenia Gravis Congenital 28 0.026
1028
c HMP004 Hemophilia B 67 0.026
1029
URT039 Urticaria 59 0.026
1030
SMT008 Smith-Magenis Syndrome 54 0.026
1031
MLN014 Melnick-Needles Syndrome 37 0.026
1032
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22 0.026
1033
P CRB088 Cerebral Atrophy 38 0.026
1034
P KRB001 Krabbe Disease 70 0.026
1035
HMG002 Hemoglobinuria 52 0.026
1036
c CNG192 Congenital Disorder of Glycosylation, Type Ik 30 0.026
1037
P SNS014 Sinusitis 62 0.026
1038
LYM027 Lymphopenia 56 0.026
1039
BLD044 Bladder Disease 55 0.026
1040
PLC001 Placenta Accreta 46 0.026
1041
PRG023 Progeroid Short Stature with Pigmented Nevi 32 0.026
1042
MYL001 Myelitis 52 0.026
1043
DYS011 Dyskinesia of Esophagus 39 0.026
1044
TXC005 Toxic Shock Syndrome 61 0.026
1045
DCT002 Ductal Carcinoma in Situ 56 0.026
1046
c VSC019 Vesicoureteral Reflux 1 54 0.026
1047
c RTN162 Retinitis Pigmentosa 2 50 0.026
1048
PRS037 Periostitis 33 0.026
1049
LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 19 0.026
1050
SLC006 Silicosis 57 0.026
1051
ORL013 Oral Lichen Planus 51 0.026
1052
FLT006 Floating-Harbor Syndrome 45 0.026
1053
PLM012 Pulmonary Sarcoidosis 58 0.026
1054
PLC007 Placental Abruption 50 0.026
1055
SKN023 Skin Tag 41 0.026
1056
AMN006 Aminoaciduria 41 0.026
1057
ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 36 0.026
1058
APH001 Aphthous Stomatitis 64 0.026
1059
CRD119 Cardiac Arrest 63 0.026
1060
WBR001 Weber Syndrome 40 0.026
1061
P HLP001 Holoprosencephaly 67 0.026
1062
HYP005 Hypokalemia 53 0.026
1063
PLS025 Plasmablastic Lymphoma 51 0.026
1064
THR004 Thrombocytosis 55 0.026
1065
SRT004 Serotonin Syndrome 51 0.026
1066
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 0.026
1067
INC002 Inclusion Body Myositis 64 0.026
1068
GST037 Gastroparesis 56 0.026
1069
c PRX060 Peroxisome Biogenesis Disorder 5a 29 0.026
1070
P CND004 Candidiasis 61 0.026
1071
P VNT002 Ventricular Septal Defect 59 0.026
1072
P SHR029 Short Syndrome 54 0.026
1073
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 53 0.026
1074
c CNG012 Congenital Generalized Lipodystrophy 51 0.026
1075
P RBN002 Robinow Syndrome 48 0.026
1076
SPS007 Spastic Cerebral Palsy 46 0.026
1077
GRD001 Giardiasis 45 0.026
1078
CTS003 Coats Disease 42 0.026
1079
DYG001 Dyggve-Melchior-Clausen Disease 31 0.026
1080
WTT002 Witteveen-Kolk Syndrome 29 0.026
1081
P LPR021 Leprosy 3 59 0.026
1082
CHL014 Cholera 56 0.026
1083
CHR525 Chromosome Xq26.3 Duplication Syndrome 31 0.026
1084
P TXP001 Toxoplasmosis 65 0.026
1085
CNC002 Cinca Syndrome 62 0.026
1086
OST015 Osteochondrodysplasia 54 0.026
1087
ANV001 Anovulation 48 0.026
1088
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 37 0.026
1089
FBR011 Fibrodysplasia Ossificans Progressiva 64 0.025
1090
c GRV008 Graves Disease 1 52 0.025
1091
GLC011 Galactose Epimerase Deficiency 46 0.025
1092
P AST055 Asthma-Related Traits 1 18 0.025
1093
STR020 Strabismus 55 0.025
1094
PRT030 Parathyroid Gland Disease 50 0.025
1095
c CNG383 Congenital Disorder of Glycosylation, Type Iik 28 0.025
1096
PRP027 Peripheral Vascular Disease 71 0.025
1097
P HML001 Hemolytic-Uremic Syndrome 50 0.025
1098
IMM064 Immunodeficiency, Common Variable, 10 37 0.025
1099
CLF004 Cleft Lip/palate 49 0.025
1100
CRB085 Cerebral Hemorrhage 47 0.025
1101
CNT060 Central Serous Chorioretinopathy 45 0.025
1102
P BRN009 Burning Mouth Syndrome 56 0.025
1103
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40 0.025
1104
P PRP029 Porphyria 62 0.025
1105
CYC008 Cyclic Vomiting Syndrome 50 0.025
1106
CRP001 Carpal Tunnel Syndrome 64 0.025