Search results for SDHD

321 hits were found for SDHD

# Family MCID Name MIFTS Score
1
P TMR010 Tumor Predisposition Syndrome 69 85.906
2
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 84.904
3
INH023 Inherited Cancer-Predisposing Syndrome 53 84.904
4
c PRG018 Paragangliomas 1 59 71.375
5
P PHC003 Pheochromocytoma 70 66.985
6
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 61 57.980
7
PRG017 Paraganglioma and Gastric Stromal Sarcoma 63 56.459
8
P CWD010 Cowden Syndrome 70 53.656
9
GLM008 Glomus Tumor 48 49.286
10
MTC207 Mitochondrial Complex Ii Deficiency, Nuclear Type 1 57 29.776
11
c CWD006 Cowden Syndrome 1 78 27.928
12
P PRG013 Paraganglioma 57 26.833
13
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 43 18.630
14
P NRF002 Neurofibromatosis 60 15.889
15
VNH007 Von Hippel-Lindau Syndrome 72 14.414
16
GST019 Gastrointestinal Stromal Tumor 78 13.854
17
NRN004 Neuroendocrine Tumor 55 12.813
18
P MLT074 Multiple Endocrine Neoplasia 58 12.372
19
P SNS001 Sensorineural Hearing Loss 60 12.023
20
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 11.310
21
KRN002 Kearns-Sayre Syndrome 62 11.090
22
c NRF024 Neurofibromatosis, Type I 76 11.011
23
EXT054 Extra-Adrenal Pheochromocytoma 31 10.915
24
c MLT156 Multiple Endocrine Neoplasia, Type I 71 10.857
25
CRN055 Carney Triad 44 10.523
26
P PHC019 Pheochromocytoma-Paraganglioma 35 10.411
27
CRB029 Cerebellopontine Angle Tumor 27 9.881
28
LGH007 Leigh Syndrome 70 9.446
29
CHN010 Chondroma 43 9.424
30
c NRF023 Neurofibromatosis, Type Ii 70 9.316
31
THY122 Thyroid Gland Cancer 59 9.055
32
ADR005 Adrenal Carcinoma 58 9.055
33
CRC006 Carcinoid Syndrome 55 8.089
34
ADR040 Adrenal Gland Pheochromocytoma 45 8.070
35
NRL008 Neural Crest Tumor 26 7.627
36
SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 29 7.398
37
FST001 Foster-Kennedy Syndrome 39 7.229
38
c MLT159 Multiple Endocrine Neoplasia, Type Iib 60 7.045
39
P CRN035 Cranial Nerve Palsy 42 6.694
40
P CRN038 Carney Complex Variant 63 6.533
41
PLT001 Plethora of Newborn 27 6.533
42
CRD007 Cardiovascular Organ Benign Neoplasm 28 6.403
43
END036 Endocrine Organ Benign Neoplasm 26 6.403
44
PRS123 Persistent Generalized Lymphadenopathy 37 6.403
45
ATS009 Autosomal Genetic Disease 26 6.403
46
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 6.403
47
P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 56 6.403
48
P LPR021 Leprosy 3 71 6.403
49
PRP105 Peripheral Nervous System Benign Neoplasm 27 6.403
50
ATN017 Autonomic Nervous System Benign Neoplasm 27 6.403
51
P DRM012 Dermis Tumor 25 6.403
52
P HRN001 Horner's Syndrome 45 6.403
53
ADR014 Adrenal Medulla Cancer 29 6.403
54
GST036 Gastric Leiomyosarcoma 31 6.403
55
P PRP019 Peripheral Nervous System Disease 57 6.403
56
LMY001 Leiomyoma Cutis 33 6.403
57
CRB015 Cerebellar Angioblastoma 30 6.403
58
SPS004 Spastic Quadriplegia 39 6.403
59
IND004 Indeterminate Leprosy 27 6.403
60
BRD005 Borderline Leprosy 28 6.403
61
TST015 Testicular Disease 42 6.403
62
QDR001 Quadriplegia 49 6.403
63
TBR006 Tuberculoid Leprosy 44 6.403
64
ESP014 Esophagus Leiomyoma 31 6.403
65
LYM116 Lymph Node Disease 42 6.403
66
c PRG021 Paragangliomas 4 38 4.482
67
CRC014 Carcinoid Tumors, Intestinal 46 3.275
68
c PRG020 Paragangliomas 3 39 2.835
69
THY029 Thyroid Carcinoma 55 2.630
70
c PRG019 Paragangliomas 2 30 2.009
71
P MLN008 Melanoma 75 2.009
72
ADN018 Adenoma 58 1.925
73
GST103 Gastric Cancer, Hereditary Diffuse 68 1.771
74
P ERY048 Erythrocytosis, Familial, 2 57 1.742
75
BLD173 Bladder Small Cell Carcinoma 44 1.730
76
MLG157 Malignant Pheochromocytoma 37 1.723
77
END086 End Stage Renal Disease 54 1.717
78
c PRG094 Paragangliomas 5 29 1.645
79
THY111 Thyroid Carcinoma, Familial Medullary 67 1.597
80
THY125 Thyroid Gland Medullary Carcinoma 48 1.505
81
P PTT006 Pituitary Adenoma 55 1.505
82
P MCR010 Microcephaly 59 1.452
83
P OVR042 Ovarian Cancer 88 1.440
84
P BLD134 Bladder Cancer 79 1.413
85
SKN019 Skin Melanoma 70 1.359
86
SMN007 Seminoma 42 1.340
87
TST043 Testicular Seminoma 31 1.340
88
c BRN108 Branchiootic Syndrome 1 63 1.319
89
P DYS154 Dystonia 64 1.319
90
HYP266 Hypoxia 56 1.293
91
P LNG064 Lung Cancer Susceptibility 3 69 1.260
92
P HYP069 Hyperparathyroidism 62 1.210
93
c NNS018 Nonsyndromic Paraganglioma 33 1.195
94
PTT037 Pituitary Tumors 44 1.146
95
P PRS040 Prostate Cancer 95 1.129
96
THY123 Thyroid Gland Follicular Carcinoma 53 1.129
97
GLM046 Glomus Vagale Tumor 14 1.117
98
P NRB001 Neuroblastoma 66 1.093
99
P MLN069 Melanoma, Uveal 59 1.054
100
ACR007 Acromegaly 70 1.054
101
P LKD001 Leukodystrophy 58 1.033
102
HRM003 Hormone Producing Pituitary Cancer 34 1.010
103
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59 0.999
104
P GST053 Gastric Cancer 82 0.999
105
P LNG032 Lung Cancer 98 0.999
106
c CLR087 Colorectal Cancer 12 34 0.999
107
END057 Endometrial Cancer 76 0.999
108
ADN011 Adenoid Cystic Carcinoma 68 0.999
109
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 0.999
110
SML009 Small Intestine Adenocarcinoma 57 0.999
111
PPL004 Papillary Squamous Carcinoma 39 0.999
112
LNG039 Lung Squamous Cell Carcinoma 57 0.999
113
ADN089 Adenosquamous Lung Carcinoma 51 0.999
114
GST040 Gastric Adenocarcinoma 66 0.999
115
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.986
116
c PRG138 Paragangliomas 7 19 0.961
117
P BRS047 Breast Cancer 97 0.941
118
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.933
119
MHR001 Mohr-Tranebjaerg Syndrome 49 0.933
120
ESP021 Esophageal Cancer 84 0.925
121
ESP027 Esophagus Squamous Cell Carcinoma 45 0.925
122
c ATR087 Atrial Standstill 1 74 0.902
123
P HYP061 Hypertrophic Cardiomyopathy 68 0.902
124
PTR034 Paternal Uniparental Disomy 20 0.902
125
c HYP595 Hypertension, Essential 84 0.875
126
PLM033 Pulmonary Embolism 58 0.867
127
KFR001 Kufor-Rakeb Syndrome 59 0.826
128
STR039 Sturge-Weber Syndrome 60 0.826
129
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.826
130
c PCH010 Pachyonychia Congenita 3 43 0.826
131
HYP080 Hypogonadism 49 0.826
132
KRT009 Keratosis 52 0.826
133
P HYP730 Hypogonadotropic Hypogonadism 57 0.826
134
P SKN015 Skin Carcinoma 71 0.826
135
INT075 Intracranial Hypertension 52 0.826
136
SNG003 Single Ventricular Heart 30 0.826
137
WBR001 Weber Syndrome 38 0.826
138
P KDN018 Kidney Disease 71 0.821
139
c CHR684 Chronic Kidney Disease 73 0.821
140
JCB001 Jacobsen Syndrome 50 0.772
141
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 0.690
142
c TYP009 Type 2 Diabetes Mellitus 91 0.690
143
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.690
144
c BLD140 Blood Group, I System 47 0.690
145
NRN001 Neuroendocrine Carcinoma 47 0.690
146
P DBT009 Diabetes Mellitus 67 0.690
147
PRT036 Peritonitis 65 0.690
148
HYP025 Hyperphosphatemia 47 0.665
149
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.652
150
P NSP012 Nasopharyngeal Carcinoma 60 0.642
151
SYN036 Syncope 44 0.642
152
DFC004 Deficiency Anemia 74 0.568
153
P KDN017 Kidney Cancer 60 0.568
154
CMP052 Complication in Hemodialysis 15 0.521
155
c SCN007 Secondary Hyperparathyroidism 50 0.470
156
P ALP004 Alport Syndrome 69 0.369
157
P GLM007 Glomerulonephritis 59 0.369
158
ANR004 Anuria 44 0.369
159
48X005 48,xyyy 39 0.369
160
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.345
161
INT020 Intravenous Leiomyomatosis 35 0.319
162
LMY003 Leiomyomatosis 43 0.319
163
URM002 Uremia 47 0.319
164
MTC005 Mitochondrial Metabolism Disease 44 0.319
165
P HYP265 Hypotonia 42 0.319
166
FMR004 Fumarase Deficiency 52 0.291
167
HMN009 Hemangioblastoma 53 0.291
168
47X002 47,xyy 47 0.291
169
FMR011 Fumarate Hydratase Deficiency 39 0.291
170
ADR041 Adrenal Cortical Adenoma 48 0.261
171
ADR016 Adrenal Cortical Carcinoma 61 0.261
172
P LMY004 Leiomyosarcoma 62 0.261
173
CLR030 Clear Cell Renal Cell Carcinoma 53 0.261
174
MSN004 Mesenchymal Cell Neoplasm 42 0.261
175
P MYP004 Myopathy 67 0.261
176
P RRT020 Rare Tumor 39 0.261
177
P ENC018 Encephalopathy 62 0.261
178
MTC208 Mitochondrial Complex Iv Deficiency, Nuclear Type 2 33 0.226
179
ALV005 Alveolar Soft Part Sarcoma 61 0.226
180
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.226
181
P RST001 Restless Legs Syndrome 52 0.226
182
INF058 Inflammatory Myofibroblastic Tumor 45 0.226
183
P PLY018 Polycythemia 56 0.226
184
NRF007 Neurofibroma 63 0.226
185
FBR019 Fibromatosis 44 0.226
186
SXL003 Sexual Disorder 49 0.184
187
TRC062 Tricuspid Atresia 54 0.184
188
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 55 0.184
189
P CLR023 Colorectal Cancer 100 0.184
190
NRD120 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 14 0.184
191
P SPP010 Suppressor of Tumorigenicity 3 50 0.184
192
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 56 0.184
193
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.184
194
P HNT016 Huntington Disease 73 0.184
195
P GLM040 Glioma Susceptibility 1 70 0.184
196
P HPT023 Hepatocellular Carcinoma 95 0.184
197
FBR009 Fibrous Dysplasia 48 0.184
198
GNG005 Gangliocytoma 54 0.184
199
MLG169 Malignant Astrocytoma 57 0.184
200
GLB002 Glioblastoma 67 0.184
201
P TBR001 Tuberous Sclerosis 69 0.184
202
GNG002 Ganglioneuroma 52 0.184
203
P HRT032 Heart Disease 84 0.184
204
P PLY019 Polyneuropathy 52 0.184
205
INS001 Insulinoma 59 0.184
206
CNN003 Conn's Syndrome 77 0.184
207
c PRM005 Primary Hyperparathyroidism 59 0.184
208
c PRC016 Pre-Eclampsia 64 0.184
209
PRM013 Premature Menopause 57 0.184
210
PRT029 Parathyroid Adenoma 51 0.184
211
CRV002 Cervix Uteri Carcinoma in Situ 48 0.184
212
GLM045 Glioma 62 0.184
213
P MTC069 Mitochondrial Disorders 57 0.184
214
PRT058 Pure Autonomic Failure 58 0.184
215
CRV045 Cervical Intraepithelial Neoplasia 38 0.184
216
RRC029 Rare Cause of Hypertension 13 0.184
217
GLL048 Glial Tumor 51 0.184
218
GLC086 Glucocorticoid-Induced Osteoporosis 43 0.130
219
c MLT086 Multiple Endocrine Neoplasia, Type Iv 51 0.130
220
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.130
221
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.130
222
LYM143 Lymphoma, Non-Hodgkin, Familial 74 0.130
223
P LYM118 Lymphoma 66 0.130
224
VLL006 Villous Adenoma 40 0.130
225
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62 0.130
226
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.130
227
P OST002 Osteoporosis 76 0.130
228
P MLN066 Melanoma, Cutaneous Malignant 1 65 0.130
229
ENC044 Enchondromatosis, Multiple, Ollier Type 57 0.130
230
LYM133 Lymphoma, Hodgkin, Classic 69 0.130
231
c FML346 Familial Adenomatous Polyposis 1 65 0.130
232
PTZ001 Peutz-Jeghers Syndrome 69 0.130
233
P HRS035 Hirschsprung Disease 1 66 0.130
234
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.130
235
STR067 Stroke, Ischemic 79 0.130
236
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.130
237
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.130
238
AGN016 Aging 53 0.130
239
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.130
240
P FML011 Familial Adenomatous Polyposis 70 0.130
241
CNZ001 Coenzyme Q10 Deficiency Disease 41 0.130
242
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.130
243
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.130
244
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.130
245
c TBR025 Tuberous Sclerosis 1 84 0.130
246
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.130
247
KRT019 Keratitis, Hereditary 66 0.130
248
P JVN014 Juvenile Polyposis Syndrome 65 0.130
249
LMY014 Leiomyoma, Uterine 55 0.130
250
HRT031 Hartnup Disorder 51 0.130
251
P LKM062 Leukemia, Acute Lymphoblastic 69 0.130
252
P MYC007 Myocardial Infarction 69 0.130
253
P MYC084 Mycobacterium Tuberculosis 1 68 0.130
254
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.130
255
c LFR007 Li-Fraumeni Syndrome 2 45 0.130
256
MLT145 Multiple Enchondromatosis, Maffucci Type 49 0.130
257
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.130
258
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.130
259
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 34 0.130
260
P LKM071 Leukemia, Chronic Lymphocytic 74 0.130
261
HYP741 Hyperparathyroidism 2 with Jaw Tumors 51 0.130
262
P LFR001 Li-Fraumeni Syndrome 73 0.130
263
c MST023 Mesothelioma, Malignant 56 0.130
264
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.130
265
LNT004 Lentigines 45 0.130
266
ONC007 Oncocytoma 49 0.130
267
P MLT008 Multinodular Goiter 41 0.130
268
P CHL156 Childhood T-Cell Acute Lymphoblastic Leukemia 39 0.130
269
P LFT003 Left Ventricular Noncompaction 58 0.130
270
P ART021 Arteriosclerosis 53 0.130
271
NRL005 Neurilemmoma 60 0.130
272
P BNG032 Benign Mesothelioma 53 0.130
273
IMP005 Impotence 52 0.130
274
P MLN007 Male Infertility 56 0.130
275
P DRR001 Diarrhea 55 0.130
276
P ECL001 Eclampsia 52 0.130
277
CLL002 Collecting Duct Carcinoma 53 0.130
278
RTN013 Retinal Hemangioblastoma 30 0.130
279
ANG018 Angiomyolipoma 45 0.130
280
THY020 Thyroid Hyalinizing Trabecular Adenoma 19 0.130
281
FLL031 Follicular Adenoma 40 0.130
282
P GRW001 Growth Hormone Secreting Pituitary Adenoma 47 0.130
283
FNC007 Functioning Pituitary Adenoma 42 0.130
284
P HYP086 Hypothyroidism 68 0.130
285
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.130
286
ISL001 Islet Cell Tumor 55 0.130
287
HMP005 Hemiplegia 53 0.130
288
P CRN025 Corneal Dystrophy 49 0.130
289
P ADN016 Adenocarcinoma 63 0.130
290
HYP005 Hypokalemia 55 0.130
291
DFF016 Diffuse Astrocytoma 48 0.130
292
ADR004 Adrenal Cortical Adenocarcinoma 38 0.130
293
P RHB003 Rhabdomyosarcoma 66 0.130
294
P TRT010 Teratoma 50 0.130
295
HYP066 Hyperglycemia 60 0.130
296
GTR002 Goiter 52 0.130
297
c ACT073 Acute Leukemia 59 0.130
298
c DLT002 Dilated Cardiomyopathy 79 0.130
299
ACS001 Acoustic Neuroma 55 0.130
300
LMY002 Leiomyoma 51 0.130
301
P KRT007 Keratoconus 49 0.130
302
TLN003 Telangiectasis 51 0.130
303
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.130
304
P PNC025 Panic Disorder 52 0.130
305
P RNL017 Renal Oncocytoma 54 0.130
306
BRS051 Breast Disease 58 0.130
307
DVR002 Diverticulitis 46 0.130
308
P HRD020 Hereditary Renal Cell Carcinoma 35 0.130
309
P ART034 Aortopulmonary Window 21 0.130
310
c ACT075 Acute Myocardial Infarction 55 0.130
311
APP008 Appendicitis 62 0.130
312
CHR176 Chromophil Renal Cell Carcinoma 23 0.130
313
ORL011 Oral Cancer 60 0.130
314
FHT001 Fh Tumor Predisposition Syndrome 27 0.130
315
CLR112 Clear Cell Papillary Renal Cell Carcinoma 25 0.130
316
P TRM003 Tremor 50 0.130
317
DYS073 Dysphagia 53 0.130
318
PST092 Posttransplant Acute Limbic Encephalitis 29 0.130
319
PRM329 Premature Aging 36 0.130
320
CRD137 Cardiogenic Shock 56 0.130
321
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 0.130
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