Search results for cardiomyopathy and deafness

407 hits were found for cardiomyopathy and deafness

# Family MCID Name MIFTS Score
1
CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6 2.142
2
MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 17 1.771
3
ATX044 Ataxia, Deafness, and Cardiomyopathy 11 1.261
4
c BRN108 Branchiootic Syndrome 1 47 0.540
5
P HYP061 Hypertrophic Cardiomyopathy 65 0.500
6
P HRT032 Heart Disease 80 0.319
7
c BLD140 Blood Group, I System 37 0.279
8
AGN016 Aging 65 0.269
9
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.255
10
HPT082 Hepatic Adenomas, Familial 52 0.241
11
END072 Endotheliitis 46 0.239
12
P DBT009 Diabetes Mellitus 72 0.236
13
P BRS047 Breast Cancer 100 0.229
14
P ANR048 Aniridia 1 68 0.228
15
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.228
16
P HPT021 Hepatitis 75 0.227
17
P LKM002 Leukemia 75 0.218
18
ANR038 Anorexia Nervosa 1 21 0.217
19
BLD137 Blood Group--Ahonen 17 0.217
20
SNS001 Sensorineural Hearing Loss 59 0.217
21
P MYP004 Myopathy 69 0.212
22
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.212
23
P LYM118 Lymphoma 71 0.209
24
P NRP001 Neuropathy 63 0.203
25
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.192
26
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.192
27
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.192
28
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.192
29
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.192
30
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.192
31
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.192
32
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.192
33
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.192
34
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.190
35
CRB009 Cerebritis 41 0.187
36
SQM006 Squamous Cell Carcinoma 74 0.185
37
NRN002 Neuronitis 43 0.183
38
P ADN016 Adenocarcinoma 71 0.182
39
P MSC005 Muscular Dystrophy 66 0.181
40
P THY032 Thyroiditis 56 0.180
41
ART140 Arteries, Anomalies of 51 0.179
42
RTN023 Retinitis 52 0.179
43
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.178
44
P ART022 Arthritis 77 0.173
45
c ATR087 Atrial Standstill 1 59 0.171
46
P ENC018 Encephalopathy 58 0.159
47
P KDN018 Kidney Disease 69 0.159
48
KRT019 Keratitis, Hereditary 62 0.157
49
ANR040 Aneurysm 61 0.156
50
P EPL164 Epilepsy 70 0.155
51
ALR002 Al-Raqad Syndrome 30 0.152
52
P CLR023 Colorectal Cancer 98 0.152
53
AST005 Asthma 83 0.152
54
DXR001 Doxorubicin Induced Cardiomyopathy 40 0.150
55
P CTR002 Cataract 60 0.149
56
P SCH015 Schizophrenia 71 0.146
57
ALP046 Alport Syndrome, X-Linked 74 0.143
58
P AMY004 Amyloidosis 69 0.139
59
ANX010 Anxiety 72 0.139
60
P CRV039 Cervicitis 49 0.134
61
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.134
62
VSC007 Vascular Disease 71 0.133
63
SRC014 Sarcoma 68 0.133
64
P LPS004 Lupus Erythematosus 69 0.133
65
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.132
66
DBT090 Diabetes and Deafness, Maternally Inherited 40 0.130
67
P HYP024 Hypoparathyroidism 55 0.129
68
P RHM011 Rheumatoid Arthritis 91 0.129
69
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.127
70
HYP266 Hypoxia 61 0.127
71
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.125
72
P LNG028 Long Qt Syndrome 63 0.121
73
P MNN013 Meningitis 71 0.121
74
SYN036 Syncope 46 0.121
75
P MLT020 Multiple Sclerosis 85 0.120
76
INS024 Insulin-Like Growth Factor I 83 0.119
77
P PNM007 Pneumonia 70 0.118
78
MYL069 Myeloma, Multiple 86 0.118
79
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.117
80
P MYL006 Myeloid Leukemia 69 0.115
81
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.115
82
c SYS001 Systemic Lupus Erythematosus 86 0.114
83
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.114
84
P INF032 Infertility 59 0.113
85
ADN018 Adenoma 63 0.113
86
CRD119 Cardiac Arrest 63 0.113
87
P HYP086 Hypothyroidism 62 0.112
88
P NRV007 Nervous System Disease 75 0.110
89
P MYC084 Mycobacterium Tuberculosis 1 69 0.109
90
MNT002 Mental Depression 60 0.108
91
P LPD010 Lipodystrophy 57 0.107
92
P PLY019 Polyneuropathy 58 0.105
93
MTS001 Mutism 42 0.105
94
HYP080 Hypogonadism 54 0.103
95
P USH001 Usher Syndrome 59 0.103
96
SPS003 Spastic Diplegia 55 0.103
97
HYP060 Hyperinsulinism 56 0.102
98
c DFN196 Deafness, Autosomal Dominant 22 41 0.102
99
SPS057 Spasticity 41 0.102
100
c CNT035 Central Nervous System Disease 65 0.100
101
P SLP006 Sleep Apnea 65 0.100
102
NRM005 Neuromuscular Disease 60 0.100
103
P ATS364 Autism 70 0.099
104
c CRD093 Cardiomyopathy, Dilated, 1a 58 0.099
105
CLT003 Colitis 63 0.098
106
P MCR010 Microcephaly 57 0.098
107
P ENC004 Encephalitis 66 0.096
108
CNN005 Connective Tissue Disease 65 0.095
109
P NNN008 Noonan Syndrome 1 77 0.094
110
P PSR002 Psoriasis 65 0.094
111
CNG069 Congenital Cytomegalovirus 40 0.092
112
ADP007 Adie Pupil 41 0.091
113
MHR001 Mohr-Tranebjaerg Syndrome 39 0.091
114
HYP066 Hyperglycemia 64 0.090
115
P DRR001 Diarrhea 60 0.089
116
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.089
117
LVR012 Liver Cirrhosis 73 0.089
118
P THR014 Thrombocytopenia 65 0.088
119
WLF001 Wolff-Parkinson-White Syndrome 57 0.087
120
P RBL001 Rubella 61 0.087
121
STR067 Stroke, Ischemic 84 0.086
122
c HYP595 Hypertension, Essential 78 0.086
123
c DFN190 Deafness, Autosomal Dominant 2a 42 0.086
124
GNG013 Gingivitis 64 0.086
125
P HYP265 Hypotonia 40 0.086
126
GTR002 Goiter 53 0.085
127
EWN002 Ewing's Family of Tumors 49 0.084
128
P END033 Endocarditis 58 0.084
129
DWN001 Down Syndrome 70 0.083
130
PRP019 Peripheral Nervous System Disease 53 0.083
131
CYT008 Cytomegalovirus Infection 57 0.083
132
BRT005 Barth Syndrome 52 0.082
133
ECT006 Ectodermal Dysplasia 57 0.082
134
VSC011 Vasculitis 66 0.082
135
NRT004 Neuritis 55 0.082
136
P THL005 Thalassemia 65 0.080
137
EPD016 Epidermolysis Bullosa 57 0.080
138
P WLF004 Wolfram Syndrome 61 0.080
139
P VNT002 Ventricular Septal Defect 59 0.079
140
CLN019 Colonic Disease 55 0.079
141
CRH001 Crohn's Disease 80 0.079
142
PST011 Pustulosis of Palm and Sole 47 0.079
143
P LMB006 Limb-Girdle Muscular Dystrophy 55 0.079
144
P BRG001 Brugada Syndrome 61 0.079
145
c CRD102 Cardiomyopathy, Dilated, 1j 26 0.079
146
P HYD006 Hydrocephalus 68 0.078
147
OTT002 Otitis Media 67 0.078
148
P NTR004 Neutropenia 60 0.078
149
P ALP008 Alopecia 56 0.078
150
HMS001 Hemosiderosis 50 0.077
151
P GLM007 Glomerulonephritis 61 0.077
152
P NPH012 Nephrotic Syndrome 60 0.077
153
CLF001 Cleft Lip 54 0.076
154
P PMP001 Pemphigus 55 0.076
155
P UVT001 Uveitis 61 0.076
156
P ENC011 Encephalomyopathy 40 0.076
157
P LCT001 Lactic Acidosis 51 0.075
158
HMT018 Hematopoietic Stem Cell Transplantation 58 0.075
159
AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57 0.075
160
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.075
161
NRN004 Neuroendocrine Tumor 58 0.074
162
BRC012 Brucellosis 71 0.074
163
P PRC012 Pericardial Effusion 52 0.073
164
P HRP006 Herpes Simplex 70 0.073
165
MGR028 Migraine with or Without Aura 1 55 0.073
166
CHR008 Choroiditis 47 0.072
167
RCK004 Rickets 63 0.072
168
c MNN043 Meningioma, Familial 69 0.072
169
KRT009 Keratosis 53 0.072
170
KRN002 Kearns-Sayre Syndrome 59 0.071
171
c 3MT014 3-Methylglutaconic Aciduria, Type V 40 0.071
172
P CHR071 Charcot-Marie-Tooth Disease 67 0.070
173
c DFN107 Deafness, Autosomal Dominant 10 43 0.070
174
ATN004 Autonomic Neuropathy 46 0.070
175
P HYP607 Hypercholesterolemia, Familial 81 0.070
176
P MYS005 Myositis 63 0.069
177
P BRC006 Brachydactyly 57 0.069
178
P ORT004 Orthostatic Intolerance 68 0.069
179
BNF002 Bone Fracture 56 0.069
180
P MCR115 Microvascular Complications of Diabetes 5 66 0.067
181
MTC004 Mitochondrial Encephalomyopathy 42 0.067
182
DWR001 Dwarfism 48 0.067
183
GRW007 Growth Hormone Deficiency 52 0.067
184
c BTT014 Beta-Thalassemia 70 0.067
185
P ANT006 Antiphospholipid Syndrome 59 0.067
186
MCR013 Microphthalmia 61 0.066
187
P JRV004 Jervell and Lange-Nielsen Syndrome 1 54 0.066
188
WLL001 Williams-Beuren Syndrome 63 0.066
189
GLC003 Glucose Intolerance 58 0.065
190
GST040 Gastric Adenocarcinoma 60 0.064
191
P 3MT007 3-Methylglutaconic Aciduria 38 0.064
192
CRB037 Cerebral Palsy 70 0.063
193
FNT004 Fainting 36 0.063
194
c HMC039 Hemochromatosis, Type 1 71 0.063
195
MYC033 Myoclonus 40 0.063
196
CHR073 Choreatic Disease 40 0.062
197
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.062
198
CHR001 Churg-Strauss Syndrome 51 0.062
199
P FCL005 Focal Segmental Glomerulosclerosis 60 0.061
200
c DFN120 Deafness, Autosomal Recessive 39 36 0.061
201
P PSD087 Pseudoxanthoma Elasticum 67 0.061
202
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41 0.061
203
IMM158 Immune Suppression 57 0.060
204
LGH007 Leigh Syndrome 68 0.060
205
WDH003 Woodhouse-Sakati Syndrome 47 0.060
206
PRP016 Paraplegia 53 0.060
207
MTC069 Mitochondrial Disorders 49 0.060
208
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61 0.060
209
P SDR002 Siderosis 48 0.060
210
c BCT007 Bacterial Meningitis 59 0.060
211
NRV006 Nervous System Cancer 61 0.059
212
SVR004 Severe Combined Immunodeficiency 71 0.059
213
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.059
214
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 62 0.059
215
c MCR113 Microvascular Complications of Diabetes 3 55 0.058
216
P LCH002 Lichen Planus 58 0.058
217
c USH039 Usher Syndrome, Type Ic 41 0.058
218
c DFN174 Deafness, Autosomal Recessive 44 40 0.058
219
c FCL025 Focal Segmental Glomerulosclerosis 1 59 0.058
220
CMB081 Combined Immunodeficiency, X-Linked 64 0.057
221
ECH003 Echinococcosis 57 0.057
222
P CMR001 Camurati-Engelmann Disease 62 0.057
223
DBT010 Diabetic Neuropathy 60 0.057
224
c CRD104 Cardiomyopathy, Dilated, 1p 38 0.057
225
KWS002 Kawasaki Disease 72 0.056
226
RFS006 Refsum Disease, Classic 63 0.056
227
PRP001 Propionic Acidemia 63 0.056
228
P TRC086 Trichohepatoenteric Syndrome 1 54 0.056
229
ACH005 Achalasia 52 0.056
230
STT001 Status Epilepticus 60 0.055
231
P MTC133 Mitochondrial Myopathy 53 0.055
232
RLP002 Relapsing-Remitting Multiple Sclerosis 59 0.055
233
P HYP055 Hypoplastic Left Heart Syndrome 63 0.055
234
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.054
235
DYS018 Dysostosis 48 0.054
236
PLM070 Pulmonic Stenosis 61 0.053
237
c CNT015 Central Sleep Apnea 45 0.053
238
HYP017 Hypophosphatemia 45 0.053
239
BLD163 Blood Group, Dombrock System 23 0.053
240
c WLF013 Wolfram Syndrome 1 52 0.053
241
HYP077 Hypertrichosis 49 0.052
242
P CNG411 Congenital Disorder of Glycosylation, Type in 55 0.052
243
P TMP003 Temporal Arteritis 67 0.052
244
c DFN330 Deafness, Autosomal Recessive 97 35 0.052
245
TST014 Testicular Cancer 54 0.051
246
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 53 0.051
247
P GND004 Gonadal Dysgenesis 50 0.051
248
SPR010 Sporotrichosis 50 0.050
249
TRS021 Triosephosphate Isomerase Deficiency 51 0.050
250
P BRD002 Bardet-Biedl Syndrome 61 0.050
251
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.050
252
FBR019 Fibromatosis 47 0.050
253
P OTT001 Otitis Externa 51 0.050
254
INT067 Interstitial Nephritis 51 0.050
255
PPL059 Popliteal Pterygium Syndrome, Lethal Type 37 0.049
256
VNH007 Von Hippel-Lindau Syndrome 72 0.049
257
P FNC027 Fanconi Anemia, Complementation Group a 78 0.049
258
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.049
259
CMP010 Complex Regional Pain Syndrome 58 0.049
260
P CCK001 Cockayne Syndrome 64 0.049
261
FCL012 Facial Paralysis 50 0.049
262
SKL017 Skeletal Dysplasias 48 0.049
263
c BRD014 Bardet-Biedl Syndrome 2 58 0.049
264
MYT011 Myotonia 41 0.047
265
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37 0.047
266
CYS008 Cystic Echinococcosis 47 0.047
267
PLM029 Palmoplantar Keratosis 41 0.047
268
P OCL013 Oculodentodigital Dysplasia 57 0.047
269
c LPR012 Leopard Syndrome 1 33 0.047
270
MTC007 Mitochondrial Complex I Deficiency 56 0.047
271
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.047
272
ING001 Inguinal Hernia 59 0.046
273
SPN331 Spondyloocular Syndrome 34 0.046
274
VTR013 Vitreoretinopathy, Neovascular Inflammatory 61 0.045
275
c INT072 Intestinal Pseudo-Obstruction 57 0.045
276
SMT008 Smith-Magenis Syndrome 54 0.045
277
MGC001 Megacolon 50 0.045
278
ALS001 Alstrom Syndrome 55 0.045
279
BNN003 Bone Inflammation Disease 46 0.045
280
NRS003 Neurosyphilis 44 0.045
281
c MYP132 Myopathy, Congenital 51 0.044
282
OST015 Osteochondrodysplasia 54 0.044
283
TTH002 Tooth Agenesis 54 0.044
284
c LNG044 Long Qt Syndrome 1 61 0.044
285
DGR001 Digeorge Syndrome 55 0.044
286
EPD070 Epidermoid Cysts 46 0.043
287
WLF002 Wolf-Hirschhorn Syndrome 54 0.043
288
MLR002 Miliary Tuberculosis 40 0.043
289
MNN020 Meningococcal Infection 47 0.043
290
P FNC043 Fanconi Anemia, Complementation Group E 52 0.043
291
SPR066 Superficial Siderosis 40 0.043
292
WGN006 Wegener Granulomatosis 71 0.043
293
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.043
294
c BRD011 Bardet-Biedl Syndrome 10 56 0.043
295
c BRD013 Bardet-Biedl Syndrome 12 55 0.043
296
c BRD012 Bardet-Biedl Syndrome 11 55 0.042
297
MTC005 Mitochondrial Metabolism Disease 33 0.042
298
GPS001 Gapo Syndrome 36 0.042
299
P AXN001 Axonal Neuropathy 38 0.042
300
SHW002 Shwachman-Diamond Syndrome 63 0.042
301
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44 0.042
302
P HYP120 Hypoaldosteronism 40 0.042
303
LNT004 Lentigines 52 0.042
304
c NNN012 Noonan Syndrome 5 39 0.042
305
JHN001 Johanson-Blizzard Syndrome 48 0.041
306
ARL004 Aural Atresia, Congenital 27 0.041
307
GTL001 Gitelman Syndrome 62 0.041
308
MYX004 Myxedema 44 0.041
309
c HMC021 Hemochromatosis, Type 2a 36 0.041
310
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 46 0.041
311
P THR117 Three M Syndrome 1 52 0.041
312
PRS034 Parasitic Helminthiasis Infectious Disease 45 0.041
313
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.041
314
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 44 0.040
315
P TRC072 Treacher Collins Syndrome 1 61 0.040
316
DRR014 Darier-White Disease 60 0.040
317
MNN017 Mononeuropathy 42 0.040
318
LBR002 Leber Hereditary Optic Neuropathy 57 0.039
319
c NNN010 Noonan Syndrome 3 42 0.039
320
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.039
321
OTM001 Otomycosis 39 0.039
322
GST052 Gestational Choriocarcinoma 39 0.039
323
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 56 0.039
324
P DST002 Distal Arthrogryposis 57 0.039
325
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 57 0.039
326
c CNG012 Congenital Generalized Lipodystrophy 51 0.039
327
PRM026 Primary Systemic Mycosis 31 0.038
328
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 37 0.038
329
MLR020 Malaria, Mild 23 0.038
330
NTT001 Not Otherwise Specified 3-Mga-Uria Type 9 0.038
331
PTY004 Pityriasis Lichenoides 26 0.037
332
P PRL003 Proliferative Glomerulonephritis 45 0.037
333
c FBR084 Fibromatosis, Gingival, 1 49 0.037
334
P CPL006 Capillary Hemangioma 56 0.037
335
P PRM001 Primary Cutaneous Amyloidosis 48 0.037
336
CFF002 Coffin-Lowry Syndrome 58 0.036
337
P ADM011 Adams-Oliver Syndrome 52 0.036
338
MYP139 Myopathy, Proximal, and Ophthalmoplegia 38 0.035
339
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 70 0.035
340
c NNN021 Noonan Syndrome 8 27 0.035
341
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 25 0.035
342
P CLR001 Clear Cell Acanthoma 40 0.035
343
OLV002 Oliver Syndrome 41 0.035
344
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39 0.035
345
CRB147 Cerebellofaciodental Syndrome 32 0.035
346
HYP226 Hyporeninemic Hypoaldosteronism 25 0.035
347
GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 24 0.035
348
CHR063 Chronic Mucocutaneous Candidiasis 66 0.035
349
NTH002 Nathalie Syndrome 21 0.035
350
c LBR012 Leber Congenital Amaurosis 2 47 0.035
351
CML001 Cumulative Trauma Disorders 23 0.034
352
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 53 0.034
353
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 0.034
354
MDD010 Middle Ear Disease 50 0.034
355
MRT001 Muir-Torre Syndrome 59 0.034
356
CRN264 Craniosynostosis with Fibular Aplasia 29 0.034
357
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.034
358
SPR032 Superficial Siderosis of the Central Nervous System 25 0.034
359
NRV004 Nerve Compression Syndrome 37 0.033
360
c ACT037 Acute Dacryocystitis 36 0.033
361
c ZMM002 Zimmermann-Laband Syndrome 1 38 0.033
362
TST015 Testicular Disease 43 0.033
363
c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37 0.033
364
EXT056 External Ear Disease 31 0.033
365
VND007 Van Der Woude Syndrome 1 57 0.033
366
NRF008 Neurofibromatosis-Noonan Syndrome 47 0.033
367
c DYS146 Dystonia 24 40 0.033
368
PPL035 Papillary Thyroid Microcarcinoma 39 0.032
369
c OPT068 Optic Atrophy 3, Autosomal Dominant 35 0.032
370
c LNG047 Long Qt Syndrome 2 49 0.032
371
c NNN011 Noonan Syndrome 4 29 0.032
372
c LNG096 Long Qt Syndrome 15 38 0.032
373
P GNG025 Gingival Fibromatosis 50 0.032
374
PLL008 Pallister-Killian Syndrome 41 0.032
375
LRG003 Large Cell Medulloblastoma 34 0.031
376
c NNN013 Noonan Syndrome 6 26 0.031
377
ICH020 Ichthyosis Prematurity Syndrome 39 0.031
378
SPN033 Spontaneous Ocular Nystagmus 33 0.031
379
SPN036 Spinal Chordoma 40 0.030
380
ATS008 Autosomal Dominant Disease 39 0.030
381
DNY001 Denys-Drash Syndrome 54 0.030
382
c HRM005 Hermansky-Pudlak Syndrome 1 47 0.030
383
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 46 0.030
384
FCT008 Factitious Disorder 35 0.029
385
ATS010 Autosomal Recessive Disease 40 0.029
386
END025 Endometrial Squamous Cell Carcinoma 39 0.029
387
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 51 0.029
388
PRM237 Primary Hypomagnesemia 40 0.029
389
AND005 Androgen Insensitivity Syndrome, Mild 16 0.028
390
CMB046 Combined Oxidative Phosphorylation Deficiency 11 24 0.028
391
FCL011 Facial Nerve Disease 35 0.028
392
FML029 Familial Renal Papillary Carcinoma 36 0.028
393
LTH045 Lutheran Suppressor, X-Linked 41 0.028
394
SKN006 Skin Sarcoidosis 39 0.027
395
CTN033 Cutaneous Candidiasis 33 0.027
396
OHD005 Ohdo Syndrome, Sbbys Variant 35 0.026
397
ATX019 Ataxia with Vitamin E Deficiency 31 0.026
398
MCR001 Microcystic Meningioma 36 0.026
399
c STR092 Striatal Degeneration, Autosomal Dominant 2 27 0.025
400
c NNN025 Noonan Syndrome 10 26 0.025
401
CRN285 Corneal Dystrophy, Fleck 40 0.025
402
c NNN024 Noonan Syndrome 9 25 0.025
403
PRL001 Purulent Labyrinthitis 30 0.024
404
c NNN020 Noonan Syndrome 7 23 0.024
405
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31 0.024
406
ARM009 Aromatic Alpha-Keto Acid Reductase 13 0.024
407
c LPR011 Leopard Syndrome 2 18 0.022
Content
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