Search results for erf

285 hits were found for erf

# Family MCID Name MIFTS Score
1
LMB009 Lambdoid Synostosis 19 43.983
2
c CRN221 Craniosynostosis 4 29 39.569
3
ISL087 Isolated Oxycephaly 36 38.916
4
CHT006 Chitayat Syndrome 30 34.198
5
c CRN278 Craniosynostosis 1 55 26.410
6
P CRN037 Craniosynostosis 68 22.052
7
CRZ001 Crouzon Syndrome 65 16.865
8
MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 51 13.981
9
HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 25 13.981
10
BRN133 Bronchomalacia 32 12.271
11
MYL069 Myeloma, Multiple 77 11.821
12
PFF001 Pfeiffer Syndrome 77 10.914
13
SYN106 Syndromic Craniosynostosis 32 9.925
14
P INT070 Intestinal Obstruction 57 8.779
15
PLS009 Plasma Cell Neoplasm 64 8.779
16
ISL089 Isolated Scaphocephaly 26 7.903
17
KLB005 Kleeblattschaedel 23 7.903
18
P BRC006 Brachydactyly 51 7.343
19
URT015 Urethral False Passage 9 7.343
20
EPS001 Epstein-Barr Virus Hepatitis 32 7.343
21
PNM005 Pneumonic Plague 47 7.343
22
NSL004 Nasal Cavity Lymphoma 29 7.343
23
BBN001 Bubonic Plague 40 7.343
24
EST003 Eastern Equine Encephalitis 38 7.343
25
WST002 Western Equine Encephalitis 40 7.343
26
PLG002 Plague 58 7.343
27
P PRM018 Primary Hypertrophic Osteoarthropathy 56 7.343
28
P RRH023 Rare Hereditary Hemochromatosis 54 5.552
29
HMS001 Hemosiderosis 48 5.552
30
ESP021 Esophageal Cancer 83 5.498
31
HLX001 Helix Syndrome 48 5.384
32
HYP266 Hypoxia 57 5.313
33
P THL005 Thalassemia 56 5.034
34
DFC004 Deficiency Anemia 74 3.696
35
SYN005 Synostosis 43 3.588
36
P RSP003 Respiratory Failure 74 3.191
37
HRW001 Hair Whorl 35 3.111
38
END057 Endometrial Cancer 72 2.752
39
DWR001 Dwarfism 44 2.749
40
RNL078 Renal Dysplasia 46 2.698
41
P CHR342 Chiari Malformation 41 2.668
42
P PRS040 Prostate Cancer 95 2.636
43
HYP748 Hypertelorism 46 2.582
44
MYL009 Myelodysplastic Syndrome 67 2.537
45
ANX004 Anoxia 40 2.536
46
47X002 47,xyy 48 2.536
47
P RTN024 Retinoblastoma 73 2.458
48
RPD005 Rapidly Involuting Congenital Hemangioma 46 2.458
49
c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 50 2.394
50
INT075 Intracranial Hypertension 53 2.394
51
P CNG003 Congenital Dyserythropoietic Anemia 48 2.394
52
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 47 2.376
53
IRN002 Iron Metabolism Disease 57 2.366
54
BNN005 Bunion 31 2.290
55
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 2.245
56
PLM129 Pulmonary Disease, Chronic Obstructive 74 2.181
57
BRN024 Bronchitis 67 2.181
58
LNG099 Lung Disease 62 2.116
59
SQM006 Squamous Cell Carcinoma 60 2.116
60
AGN016 Aging 54 2.049
61
P SCH015 Schizophrenia 74 1.999
62
P OVR082 Overgrowth Syndrome 49 1.979
63
P ALC033 Alcohol Use Disorder 61 1.979
64
DYS073 Dysphagia 53 1.979
65
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.907
66
SPL018 Splenomegaly 49 1.907
67
EXP004 Exophthalmos 51 1.886
68
HYP025 Hyperphosphatemia 48 1.833
69
P TRT010 Teratoma 51 1.761
70
IMM167 Immune Deficiency Disease 78 1.755
71
c CHR684 Chronic Kidney Disease 69 1.755
72
48X005 48,xyyy 39 1.755
73
P ATS364 Autism 69 1.673
74
PNG002 Pain Agnosia 51 1.673
75
P KDN018 Kidney Disease 72 1.673
76
LVR012 Liver Cirrhosis 63 1.673
77
P BRS047 Breast Cancer 98 1.670
78
EWN003 Ewing Sarcoma 70 1.620
79
P NRB001 Neuroblastoma 66 1.620
80
SPN035 Spindle Cell Sarcoma 54 1.620
81
SRC014 Sarcoma 65 1.620
82
P SCK005 Sickle Cell Disease 56 1.620
83
PCT001 Pectus Carinatum 33 1.620
84
P CRN300 Coronary Heart Disease 1 73 1.587
85
c MCR130 Microvascular Complications of Diabetes 6 41 1.587
86
CLT003 Colitis 63 1.587
87
c MCR120 Microvascular Complications of Diabetes 7 47 1.587
88
c HYP836 Hypercholesterolemia, Familial, 1 73 1.587
89
P HML002 Hemolytic Anemia 62 1.587
90
c MCR113 Microvascular Complications of Diabetes 3 52 1.587
91
c MCR133 Microvascular Complications of Diabetes 4 41 1.587
92
P HRT032 Heart Disease 81 1.587
93
SVR004 Severe Combined Immunodeficiency 72 1.587
94
URN010 Urinary Tract Obstruction 55 1.587
95
P LMY004 Leiomyosarcoma 62 1.587
96
PTT037 Pituitary Tumors 44 1.587
97
DFF005 Diffuse Large B-Cell Lymphoma 54 1.496
98
P RNL100 Renal Hypodysplasia/aplasia 1 63 1.496
99
P BCL017 B-Cell Lymphoma 59 1.496
100
PRX092 Peroxidase, Salivary 8 1.451
101
EMB004 Embryonal Carcinoma 56 1.451
102
INT276 Interatrial Communication 51 1.436
103
P VNT002 Ventricular Septal Defect 58 1.436
104
P ATR010 Atrial Heart Septal Defect 58 1.436
105
HYD002 Hydronephrosis 58 1.436
106
INT066 Interstitial Lung Disease 60 1.436
107
P AST005 Asthma 76 1.400
108
GST092 Gastroesophageal Reflux 61 1.400
109
c BTT014 Beta-Thalassemia 72 1.400
110
c ATS007 Autism Spectrum Disorder 72 1.400
111
IRN001 Iron Deficiency Anemia 58 1.400
112
P TMP001 Temporal Lobe Epilepsy 49 1.400
113
P GLM007 Glomerulonephritis 60 1.400
114
c MJR022 Major Affective Disorder 8 38 1.296
115
c MJR024 Major Affective Disorder 9 41 1.296
116
P BPL003 Bipolar Disorder 56 1.296
117
PLR007 Pleural Empyema 51 1.296
118
CRB037 Cerebral Palsy 67 1.296
119
IRR002 Irritable Bowel Syndrome 65 1.296
120
HDN002 Head Injury 44 1.296
121
MRF001 Marfan Syndrome 76 1.232
122
P VSC007 Vascular Disease 63 1.232
123
c ANM036 Anemia, Sideroblastic, 1 56 1.183
124
MSC157 Muscular Dystrophy, Duchenne Type 79 1.183
125
P SDR003 Sideroblastic Anemia 51 1.183
126
P MSC005 Muscular Dystrophy 67 1.183
127
ALL029 Allergic Disease 59 1.183
128
P END044 Endometriosis 62 1.183
129
CYS010 Cystinosis 62 1.183
130
LPD008 Lipid Metabolism Disorder 62 1.183
131
P ART005 Arteriovenous Malformation 65 1.183
132
HRS011 Horseshoe Kidney 31 1.183
133
P LNG032 Lung Cancer 98 1.062
134
P BLD134 Bladder Cancer 79 1.058
135
P NSP012 Nasopharyngeal Carcinoma 61 1.058
136
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 1.058
137
P PLM037 Pulmonary Hypertension 72 1.058
138
P INF037 Inflammatory Bowel Disease 53 1.058
139
KSH004 Kashin-Beck Disease 38 1.058
140
P MJR001 Major Depressive Disorder 68 1.058
141
c HPT073 Hepatitis C Virus 71 1.058
142
IRN004 Iron-Refractory Iron Deficiency Anemia 46 1.058
143
c HPT001 Hepatitis C 62 1.058
144
MNT002 Mental Depression 57 1.058
145
MCR018 Microcytic Anemia 47 1.058
146
c ACT071 Acute Kidney Failure 60 1.058
147
PTH003 Pathologic Nystagmus 52 1.058
148
DPR016 Depression 65 1.058
149
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.916
150
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.916
151
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.916
152
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.916
153
P SLP006 Sleep Apnea 69 0.916
154
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.916
155
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.916
156
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.916
157
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.916
158
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.916
159
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.916
160
SCT005 Scott Syndrome 50 0.916
161
OCL052 Ocular Dominance 40 0.916
162
MLT084 Multicystic Dysplastic Kidney 42 0.916
163
PLM001 Pulmonary Tuberculosis 69 0.916
164
P EPL164 Epilepsy 68 0.916
165
P OPT006 Optic Nerve Disease 58 0.916
166
VCC001 Vaccinia 47 0.916
167
P SKN015 Skin Carcinoma 71 0.916
168
PRT036 Peritonitis 65 0.916
169
END086 End Stage Renal Disease 52 0.916
170
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.916
171
ASP007 Aspiration Pneumonia 49 0.916
172
CHL004 Cholelithiasis 49 0.916
173
c SCN007 Secondary Hyperparathyroidism 51 0.916
174
P HYP069 Hyperparathyroidism 62 0.916
175
FCL014 Focal Epilepsy 53 0.916
176
CRB039 Cerebrovascular Disease 66 0.916
177
P ART021 Arteriosclerosis 54 0.916
178
BRS051 Breast Disease 58 0.916
179
PST028 Post-Traumatic Stress Disorder 59 0.916
180
HRP004 Herpes Zoster 61 0.916
181
P CHR345 Chronic Pain 50 0.916
182
PST053 Postherpetic Neuralgia 40 0.916
183
P OVR042 Ovarian Cancer 88 0.753
184
P PNC035 Pancreatic Cancer 86 0.753
185
FBR089 Fibrosclerosis, Multifocal 35 0.748
186
c HMC039 Hemochromatosis, Type 1 73 0.748
187
EXR008 Exercise-Induced Malignant Hyperthermia 20 0.748
188
CRD132 Cardiac Conduction Defect 60 0.748
189
ANG054 Angina Pectoris 66 0.748
190
APH002 Aphasia 56 0.748
191
LNG095 Lung Abscess 51 0.748
192
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.748
193
INT323 Intraocular Pressure Quantitative Trait Locus 64 0.748
194
P HYP750 Hypertriglyceridemia, Familial 62 0.748
195
c GLC092 Glaucoma, Primary Open Angle 62 0.748
196
P OPN001 Open-Angle Glaucoma 55 0.748
197
TRM010 Traumatic Brain Injury 51 0.748
198
URM002 Uremia 47 0.748
199
LRN003 Learning Disability 49 0.748
200
P MVM001 Movement Disease 61 0.748
201
P PLM034 Pulmonary Emphysema 58 0.748
202
SKN016 Skin Disease 63 0.748
203
HYP066 Hyperglycemia 61 0.748
204
HRT012 Heart Valve Disease 53 0.748
205
P ACN011 Acne 57 0.748
206
P BND020 Bone Disease 59 0.748
207
CHL123 Chlamydia 58 0.748
208
P DYS005 Dyslexia 41 0.748
209
PLM010 Pulmonary Edema 55 0.748
210
RFR003 Refractive Error 41 0.748
211
RTR011 Retroperitoneal Fibrosis 47 0.748
212
P CRP001 Carpal Tunnel Syndrome 66 0.703
213
c GLM047 Glioma Susceptibility 3 33 0.584
214
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.584
215
c MSM022 Mismatch Repair Cancer Syndrome 1 70 0.584
216
c GLM025 Glioma Susceptibility 2 30 0.584
217
c GLM043 Glioma Susceptibility 9 30 0.584
218
P GLM040 Glioma Susceptibility 1 71 0.584
219
MNN043 Meningioma, Familial 79 0.584
220
P LNG021 Lung Occult Small Cell Carcinoma 20 0.584
221
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.584
222
P OLG002 Oligodendroglioma 66 0.584
223
LNG039 Lung Squamous Cell Carcinoma 57 0.584
224
LNG012 Lung Occult Squamous Cell Carcinoma 20 0.584
225
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 21 0.584
226
GLM045 Glioma 63 0.584
227
MCK005 Mckusick-Kaufman Syndrome 61 0.529
228
CLP005 Ciliopathy 41 0.529
229
PLY100 Polyploidy 36 0.529
230
GLM044 Glomerular Disease 35 0.529
231
STH001 Saethre-Chotzen Syndrome 66 0.529
232
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.529
233
STR067 Stroke, Ischemic 80 0.529
234
P DRM053 Dermatitis, Atopic 65 0.529
235
P MLT020 Multiple Sclerosis 79 0.529
236
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 49 0.529
237
HMN044 Human Immunodeficiency Virus Type 1 78 0.529
238
PRT251 Proteinuria, Chronic Benign 57 0.529
239
RSP023 Rasopathy 53 0.529
240
HLC007 Helicobacter Pylori Infection 67 0.529
241
c CHR320 Chiari Malformation Type I 46 0.529
242
c ASP032 Asperger Syndrome 1 23 0.529
243
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.529
244
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 47 0.529
245
c RTN032 Retinal Cone Dystrophy 1 24 0.529
246
c SML038 Small Cell Cancer of the Lung 69 0.529
247
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.529
248
c HYP595 Hypertension, Essential 85 0.529
249
c EXS019 Exostoses, Multiple, Type I 54 0.529
250
P NNN008 Noonan Syndrome 1 77 0.529
251
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 64 0.529
252
APR006 Apert Syndrome 70 0.529
253
CHL065 Cholangiocarcinoma 58 0.529
254
SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 36 0.529
255
TNG009 Tongue Squamous Cell Carcinoma 43 0.529
256
RNL077 Renal Fibrosis 46 0.529
257
HRD218 Hereditary Stomatocytosis 30 0.529
258
P PRT042 Parietal Foramina 51 0.529
259
PRT037 Pertussis 65 0.529
260
c ACT073 Acute Leukemia 58 0.529
261
P MYP006 Myopia 56 0.529
262
ACT250 Acute Megakaryocytic Leukemia 60 0.529
263
P BLD062 Bile Duct Cancer 67 0.529
264
P CYS018 Cystitis 59 0.529
265
IGG001 Iga Glomerulonephritis 50 0.529
266
P RTN016 Retinal Degeneration 52 0.529
267
HYP005 Hypokalemia 55 0.529
268
P DMN001 Diamond-Blackfan Anemia 71 0.529
269
P NPH005 Nephronophthisis 56 0.529
270
P NPH012 Nephrotic Syndrome 60 0.529
271
CHL014 Cholera 62 0.529
272
P INT143 Interstitial Cystitis 60 0.529
273
DPH001 Diphtheria 59 0.529
274
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 0.529
275
c INF023 Inflammatory Breast Carcinoma 49 0.529
276
INT079 Intrahepatic Cholangiocarcinoma 51 0.529
277
MTN002 Mite Infestation 35 0.529
278
P CYS039 Cystic Kidney Disease 53 0.529
279
GST045 Gastroenteritis 58 0.529
280
DRM006 Dermatitis 62 0.529
281
P HMP007 Hemophilia 52 0.529
282
c PSD047 Pseudo-Turner Syndrome 52 0.529
283
FRS019 Farsightedness 36 0.529
284
CRL001 Cerulean Cataract 26 0.529
285
FBR019 Fibromatosis 42 0.529
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