Search results for optic atrophy and deafness

504 hits were found for optic atrophy and deafness

# Family MCID Name MIFTS Score
1
MHR001 Mohr-Tranebjaerg Syndrome 43 5.131
2
c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 29 5.039
3
P WLF004 Wolfram Syndrome 63 4.478
4
c OPT055 Optic Atrophy Plus Syndrome 50 4.428
5
c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39 4.134
6
ART002 Arts Syndrome 52 4.057
7
OPT022 Optic Atrophy 1 and Deafness 10 2.289
8
XLN025 X-Linked Mental Retardation Gustavson Type 5 1.597
9
P NRP001 Neuropathy 57 0.442
10
RTN023 Retinitis 49 0.369
11
CRB009 Cerebritis 39 0.292
12
NRN002 Neuronitis 39 0.241
13
EYD002 Eye Disease 57 0.219
14
END072 Endotheliitis 41 0.209
15
P ATX004 Ataxia 52 0.208
16
c BRN108 Branchiootic Syndrome 1 35 0.207
17
P HPT021 Hepatitis 68 0.201
18
CHR008 Choroiditis 43 0.201
19
P LKM002 Leukemia 72 0.200
20
P LYM118 Lymphoma 69 0.188
21
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.187
22
DMN002 Dementia 52 0.183
23
SQM006 Squamous Cell Carcinoma 69 0.179
24
SNS001 Sensorineural Hearing Loss 54 0.178
25
P THY032 Thyroiditis 53 0.175
26
P OBS005 Obesity 91 0.171
27
P NRV007 Nervous System Disease 70 0.171
28
P CTR002 Cataract 57 0.170
29
P EPL164 Epilepsy 65 0.167
30
P ART022 Arthritis 72 0.163
31
NRM005 Neuromuscular Disease 55 0.159
32
KRT004 Keratitis 70 0.157
33
P HRT032 Heart Disease 75 0.156
34
VSC007 Vascular Disease 65 0.156
35
PRP019 Peripheral Nervous System Disease 53 0.155
36
OPT006 Optic Nerve Disease 49 0.152
37
HPT074 Hepatic Adenoma, Somatic 44 0.152
38
P RTN016 Retinal Degeneration 53 0.149
39
RTN018 Retinal Disease 51 0.148
40
ART111 Artery Disease 55 0.146
41
P HYP729 Hypersensitivity Reaction Disease 43 0.143
42
P MYP004 Myopathy 68 0.142
43
P ENC018 Encephalopathy 52 0.141
44
BRT030 Birth Defects 44 0.141
45
SKN016 Skin Disease 64 0.140
46
P CRV039 Cervicitis 45 0.140
47
MTH009 Mouth Disease 62 0.139
48
c OPT053 Optic Atrophy 1 46 0.139
49
P DYS154 Dystonia 61 0.138
50
P MYP006 Myopia 59 0.135
51
PHY002 Physical Disorder 43 0.135
52
SPS057 Spasticity 42 0.133
53
TTR016 Tetra-Amelia Syndrome 38 0.133
54
CLB001 Coloboma 54 0.131
55
P CRD011 Cardiomyopathy 67 0.129
56
HNM002 Hinman Syndrome 27 0.129
57
P RTN008 Retinitis Pigmentosa 80 0.129
58
P MNN013 Meningitis 65 0.128
59
BNS002 Bone Structure Disease 36 0.127
60
MSC004 Muscle Tissue Disease 37 0.127
61
ATH003 Atherosclerosis 65 0.127
62
P LPS004 Lupus Erythematosus 63 0.126
63
LNG099 Lung Disease 61 0.125
64
P DBT005 Diabetes Insipidus 52 0.125
65
ADL002 Adult Syndrome 57 0.124
66
P KDN018 Kidney Disease 65 0.123
67
TBR010 Tuberculosis 69 0.122
68
P MSC005 Muscular Dystrophy 65 0.117
69
HYP266 Hypoxia 55 0.117
70
P INT063 Intellectual Disability 58 0.117
71
P ICH004 Ichthyosis 53 0.116
72
P UVT001 Uveitis 57 0.116
73
RSP006 Respiratory System Disease 60 0.115
74
P HYD006 Hydrocephalus 66 0.114
75
c SYS001 Systemic Lupus Erythematosus 86 0.113
76
P PNM007 Pneumonia 66 0.113
77
ACQ007 Acquired Immunodeficiency Syndrome 60 0.112
78
ANR040 Aneurysm 57 0.112
79
VRL011 Viral Infectious Disease 59 0.110
80
LBR030 Leber Optic Atrophy 54 0.110
81
P ENC004 Encephalitis 61 0.109
82
CRN031 Cranial Nerve Disease 41 0.109
83
PCK002 Pick Disease 68 0.108
84
ALR002 Al-Raqad Syndrome 29 0.108
85
P PRM016 Primary Optic Atrophy 31 0.107
86
P CRB042 Cerebellar Ataxia 69 0.105
87
BRS051 Breast Disease 60 0.104
88
P MCR010 Microcephaly 58 0.102
89
IMM136 Immune System Disease 53 0.102
90
P SPS003 Spastic Diplegia 52 0.102
91
ANX002 Anxiety Disorder 66 0.102
92
CLT003 Colitis 58 0.101
93
P INF032 Infertility 57 0.101
94
AND005 Androgen Insensitivity Syndrome, Mild 16 0.101
95
MNT002 Mental Depression 52 0.097
96
SKN023 Skin Tag 46 0.097
97
TTH006 Tooth Disease 51 0.096
98
P PSR002 Psoriasis 64 0.095
99
MLR004 Malaria 82 0.094
100
P PLY019 Polyneuropathy 54 0.093
101
BLD054 Blood Protein Disease 39 0.092
102
ALB002 Albinism 45 0.092
103
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.091
104
P SLP006 Sleep Apnea 60 0.091
105
P THR014 Thrombocytopenia 63 0.090
106
PRP016 Paraplegia 48 0.090
107
VSC011 Vasculitis 62 0.090
108
P CHR071 Charcot-Marie-Tooth Disease 67 0.089
109
INT075 Intracranial Hypertension 48 0.089
110
MCR013 Microphthalmia 59 0.088
111
RLP002 Relapsing-Remitting Multiple Sclerosis 54 0.088
112
GNG013 Gingivitis 61 0.088
113
ALP008 Alopecia 54 0.088
114
P LYM026 Lymphoblastic Leukemia 60 0.086
115
P INF037 Inflammatory Bowel Disease 62 0.085
116
P CLL015 Collagen Disease 50 0.085
117
P HYP086 Hypothyroidism 60 0.085
118
HDN002 Head Injury 44 0.084
119
BRN106 Burns 52 0.084
120
P USH001 Usher Syndrome 54 0.082
121
BNF002 Bone Fracture 51 0.082
122
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39 0.081
123
HYP066 Hyperglycemia 59 0.081
124
NRN004 Neuroendocrine Tumor 55 0.080
125
P NRV006 Nervous System Cancer 59 0.080
126
P SYP003 Syphilis 51 0.079
127
KRT009 Keratosis 48 0.079
128
GST045 Gastroenteritis 57 0.079
129
HRP004 Herpes Zoster 54 0.078
130
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 31 0.078
131
P GLM007 Glomerulonephritis 55 0.078
132
CHR081 Choroideremia 54 0.077
133
P LPD010 Lipodystrophy 53 0.077
134
P THL005 Thalassemia 61 0.076
135
P AMY004 Amyloidosis 64 0.076
136
P HYP265 Hypotonia 39 0.076
137
APH002 Aphasia 55 0.076
138
P SCL018 Scoliosis 56 0.075
139
SPN051 Spondylitis 51 0.075
140
P TXP001 Toxoplasmosis 60 0.075
141
P CND004 Candidiasis 56 0.075
142
P PTS002 Ptosis 52 0.074
143
ARC002 Arachnoiditis 41 0.074
144
P PRS038 Personality Disorder 61 0.074
145
BRC012 Brucellosis 61 0.074
146
RTN020 Retinal Vascular Disease 47 0.074
147
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.073
148
OTT002 Otitis Media 65 0.073
149
P MMP001 Mumps 54 0.073
150
P ADT004 Auditory Neuropathy 35 0.073
151
DWR001 Dwarfism 45 0.073
152
PRM025 Primary Bacterial Infectious Disease 42 0.073
153
P SHR029 Short Syndrome 61 0.072
154
CHL123 Chlamydia 58 0.072
155
P LGH007 Leigh Syndrome 69 0.072
156
P AGN002 Agnosia 59 0.072
157
P HYP060 Hyperinsulinism 57 0.072
158
FML037 Female Breast Cancer 50 0.072
159
NRS003 Neurosyphilis 41 0.071
160
P DRR001 Diarrhea 59 0.071
161
MYC033 Myoclonus 41 0.071
162
END057 Endometrial Cancer 74 0.070
163
P CNJ013 Conjunctivitis 63 0.070
164
P STR020 Strabismus 52 0.068
165
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.068
166
LSH001 Leishmaniasis 66 0.068
167
P FRD001 Friedreich Ataxia 62 0.068
168
P HRP006 Herpes Simplex 62 0.068
169
CRN025 Corneal Dystrophy 41 0.068
170
GPS001 Gapo Syndrome 34 0.067
171
ADR007 Adrenoleukodystrophy 72 0.067
172
P MTC069 Mitochondrial Disorders 55 0.067
173
P MYS003 Myasthenia Gravis 67 0.066
174
DWN001 Down Syndrome 69 0.066
175
BCK006 Back Pain 41 0.066
176
DSS008 Disease of Mental Health 53 0.065
177
P ANT006 Antiphospholipid Syndrome 54 0.065
178
CRB037 Cerebral Palsy 54 0.064
179
DCH001 Duchenne Muscular Dystrophy 79 0.064
180
PLM001 Pulmonary Tuberculosis 63 0.064
181
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41 0.064
182
DBT010 Diabetic Neuropathy 54 0.063
183
P CRN037 Craniosynostosis 65 0.063
184
BTN003 Biotinidase Deficiency 57 0.063
185
BRN038 Bronchial Disease 53 0.063
186
SPS019 Spastic Paraparesis 34 0.063
187
NSD001 Nose Disease 49 0.063
188
P TRC086 Trichohepatoenteric Syndrome 1 51 0.063
189
P AXN001 Axonal Neuropathy 36 0.063
190
LBR020 Leber Hereditary Optic Neuropathy with Dystonia 32 0.063
191
NWC001 Newcastle Disease 51 0.062
192
P ANR002 Aniridia 66 0.062
193
SCH014 Schistosomiasis 56 0.062
194
PSR001 Psoriatic Arthritis 63 0.062
195
NSY001 N Syndrome 44 0.061
196
P OST001 Osteopetrosis 63 0.061
197
CRN036 Craniopharyngioma 59 0.061
198
c BCT007 Bacterial Meningitis 53 0.061
199
CYT008 Cytomegalovirus Infection 51 0.061
200
P MYS005 Myositis 56 0.061
201
P LCT001 Lactic Acidosis 50 0.061
202
P ASP006 Aspergillosis 60 0.060
203
P KRB001 Krabbe Disease 69 0.060
204
DRS004 Door Syndrome 42 0.059
205
P LPR003 Leprosy 63 0.059
206
CRT072 Creutzfeldt-Jakob Disease 62 0.059
207
P ENC011 Encephalomyopathy 37 0.059
208
P CCK001 Cockayne Syndrome 62 0.059
209
LKC003 Leukocyte Disease 46 0.058
210
BCK001 Becker Muscular Dystrophy 71 0.058
211
P HMC003 Hemochromatosis 72 0.058
212
P TMP003 Temporal Arteritis 61 0.057
213
NRF007 Neurofibroma 58 0.057
214
P 3MT007 3-Methylglutaconic Aciduria 38 0.057
215
P DBT085 Diabetes Mellitus, Insulin-Dependent 79 0.057
216
PPL022 Papilloma 54 0.057
217
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 25 0.057
218
KRT001 Keratoconjunctivitis Sicca 59 0.057
219
c HRD010 Hereditary Spastic Paraplegia 66 0.057
220
FBR012 Fabry Disease 71 0.056
221
MCK007 Muckle-Wells Syndrome 63 0.056
222
P PHC003 Pheochromocytoma 72 0.056
223
CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 16 0.055
224
HRP011 Herpes Zoster Ophthalmicus 23 0.055
225
CRD119 Cardiac Arrest 59 0.055
226
SYN036 Syncope 44 0.055
227
P PSD087 Pseudoxanthoma Elasticum 67 0.055
228
NRR002 Norrie Disease 62 0.055
229
PGM003 Pigmentation Disease 39 0.055
230
P PLY006 Polydactyly 54 0.055
231
TNS005 Tonsillitis 56 0.054
232
P KLP003 Klippel-Feil Syndrome 44 0.054
233
ATN004 Autonomic Neuropathy 42 0.054
234
P CRB059 Cerebellar Degeneration 37 0.054
235
P SDR002 Siderosis 44 0.054
236
MTC054 Mitochondrial Dna Depletion Syndrome 7 39 0.054
237
THY030 Thyroid Gland Disease 49 0.054
238
CLC006 Calcinosis 49 0.054
239
P END033 Endocarditis 53 0.054
240
CNT047 Contact Dermatitis 59 0.053
241
BRN002 Bronchiolitis 52 0.053
242
KRN002 Kearns-Sayre Syndrome 57 0.053
243
c HYP071 Hypersensitivity Reaction Type Ii Disease 48 0.053
244
P AGG001 Aggressive Periodontitis 49 0.052
245
P OST005 Osteogenesis Imperfecta 68 0.052
246
CHR001 Churg-Strauss Syndrome 47 0.052
247
OLV003 Olivopontocerebellar Atrophy Deafness 14 0.052
248
UPP004 Upper Respiratory Tract Disease 46 0.052
249
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.052
250
P CMR001 Camurati-Engelmann Disease 59 0.052
251
BCT002 Bacterial Vaginosis 51 0.052
252
P HLP001 Holoprosencephaly 65 0.052
253
P HST010 Histiocytosis 54 0.052
254
P INT030 Intracranial Aneurysm 53 0.052
255
LKP003 Leukoplakia 38 0.052
256
TXC005 Toxic Shock Syndrome 55 0.052
257
GST078 Gastrointestinal Allergy 39 0.052
258
RCT015 Reactive Arthritis 63 0.052
259
P LKD001 Leukodystrophy 56 0.052
260
DSS009 Disseminated Intravascular Coagulation 50 0.051
261
KRT008 Keratopathy 39 0.051
262
DCT002 Ductal Carcinoma in Situ 50 0.051
263
c HRD026 Hereditary Ataxia 42 0.051
264
CRB045 Cerebellar Hypoplasia 50 0.051
265
MTC007 Mitochondrial Complex I Deficiency 62 0.051
266
QFV001 Q Fever 55 0.051
267
TLN003 Telangiectasis 50 0.051
268
ATS300 Autosomal Dominant Optic Atrophy, Classic Form 10 0.051
269
P WRD001 Waardenburg's Syndrome 56 0.050
270
CHG001 Chagas Disease 66 0.050
271
ALX001 Alexia 39 0.050
272
ART005 Arteriovenous Malformation 63 0.050
273
P SPN052 Spondyloarthropathy 59 0.050
274
CHR103 Charge Syndrome 65 0.050
275
ADP007 Adie Pupil 35 0.050
276
P FNC043 Fanconi Anemia, Complementation Group E 51 0.050
277
c SPN364 Spinocerebellar Ataxia, X-Linked 3 23 0.049
278
ECH003 Echinococcosis 52 0.049
279
PLS007 Plasmodium Falciparum Malaria 54 0.049
280
TYP007 Typhoid Fever 61 0.049
281
P FCL005 Focal Segmental Glomerulosclerosis 60 0.049
282
OCL025 Ocular Toxoplasmosis 39 0.049
283
c CNG006 Congenital Hypothyroidism 60 0.049
284
VSC003 Visceral Leishmaniasis 55 0.049
285
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26 0.048
286
PRN011 Pernicious Anemia 43 0.048
287
CNJ012 Conjunctival Disease 45 0.048
288
MDD010 Middle Ear Disease 48 0.048
289
CTN007 Cutaneous Leishmaniasis 61 0.048
290
SCR008 Scrub Typhus 59 0.048
291
FCL014 Focal Epilepsy 55 0.048
292
FLR002 Filariasis 54 0.047
293
WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 32 0.047
294
ARC007 Arachnoid Cysts 38 0.047
295
P DYS005 Dyslexia 36 0.047
296
IMG001 Image Syndrome 58 0.047
297
WLL001 Williams-Beuren Syndrome 62 0.047
298
CLD014 Cole Disease 40 0.047
299
P LYM025 Lymphedema 60 0.047
300
P TYS001 Tay-Sachs Disease 70 0.046
301
PRC002 Paracoccidioidomycosis 52 0.046
302
P BRD002 Bardet-Biedl Syndrome 64 0.046
303
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49 0.046
304
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 73 0.046
305
BRN022 Bronchiectasis 49 0.046
306
ANN002 Anencephaly 53 0.045
307
c ATS308 Autosomal Dominant Cerebellar Ataxia 46 0.045
308
P CNV004 Canavan Disease 55 0.045
309
P ATX024 Ataxia-Oculomotor Apraxia 3 41 0.045
310
MDL002 Medulloepithelioma 43 0.045
311
P CRD013 Cardiofaciocutaneous Syndrome 65 0.045
312
ACH005 Achalasia 47 0.045
313
TBS001 Tabes Dorsalis 28 0.045
314
P CRN026 Corneal Edema 39 0.045
315
c WLF009 Wolfram Syndrome 2 46 0.045
316
P XLN007 X-Linked Disease 34 0.045
317
DNN002 Donnai-Barrow Syndrome 38 0.045
318
SKL017 Skeletal Dysplasias 44 0.044
319
SKL014 Skeletal Dysplasia 46 0.044
320
CRY002 Cryptorchidism 61 0.044
321
DYS045 Dysosteosclerosis 26 0.044
322
P MTC004 Mitochondrial Encephalomyopathy 43 0.044
323
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.044
324
HYD002 Hydronephrosis 46 0.044
325
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51 0.044
326
APH001 Aphthous Stomatitis 58 0.044
327
P LYM007 Lymphangioleiomyomatosis 66 0.044
328
c CNT015 Central Sleep Apnea 43 0.044
329
c SCN036 Secondary Progressive Multiple Sclerosis 46 0.043
330
WST001 West Syndrome 58 0.043
331
CND005 Cone Dystrophy 38 0.043
332
KHL003 Kohlschutter-Tonz Syndrome 42 0.043
333
CHN016 Cohen Syndrome 54 0.043
334
LYM021 Lymphadenitis 57 0.043
335
PRT026 Parotitis 42 0.043
336
TRY001 Trypanosomiasis 50 0.043
337
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 37 0.043
338
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63 0.043
339
GNT003 Genital Herpes 51 0.043
340
CHR506 Choroideremia, Deafness, and Mental Retardation 21 0.043
341
PRS036 Parasitic Protozoa Infectious Disease 42 0.042
342
c PRX045 Peroxisome Biogenesis Disorder 1b 53 0.042
343
DNR002 Duane-Radial Ray Syndrome 49 0.042
344
RSD004 Rosai-Dorfman Disease 44 0.042
345
MLT135 Multiple Sulfatase Deficiency 54 0.042
346
HYP077 Hypertrichosis 48 0.042
347
PLY020 Polyradiculoneuropathy 45 0.042
348
CCC002 Coccidiosis 49 0.042
349
LST001 Listeriosis 50 0.042
350
ATS009 Autosomal Genetic Disease 38 0.042
351
P VTR008 Vitreoretinal Degeneration 34 0.042
352
P HYP098 Hypereosinophilic Syndrome 61 0.042
353
PLM012 Pulmonary Sarcoidosis 53 0.042
354
NNT017 Neonatal Adrenoleukodystrophy 49 0.042
355
ALL010 Allergic Contact Dermatitis 54 0.041
356
CYS014 Cystadenocarcinoma 46 0.041
357
c CHR095 Chronic Progressive External Ophthalmoplegia 43 0.041
358
MLD001 Melioidosis 65 0.041
359
CRB033 Cerebral Degeneration 44 0.041
360
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.041
361
ADL030 Adult-Onset Still's Disease 60 0.041
362
ADN009 Adenosquamous Carcinoma 50 0.041
363
LPR001 Lepromatous Leprosy 49 0.041
364
BLP004 Blepharophimosis 36 0.040
365
P PRM011 Primary Ciliary Dyskinesia 56 0.040
366
c 3MT014 3-Methylglutaconic Aciduria, Type V 39 0.040
367
CFF002 Coffin-Lowry Syndrome 58 0.040
368
c INV001 Invasive Aspergillosis 46 0.040
369
INT067 Interstitial Nephritis 45 0.040
370
P OCL013 Oculodentodigital Dysplasia 57 0.040
371
FNT004 Fainting 33 0.040
372
RHM028 Rheumatic Heart Disease 48 0.040
373
DBT004 Diabetic Polyneuropathy 47 0.039
374
ATS010 Autosomal Recessive Disease 39 0.039
375
ALV002 Alveolar Echinococcosis 44 0.039
376
ZLL001 Zellweger Syndrome 58 0.039
377
c OST126 Osteopetrosis, Autosomal Recessive 1 36 0.038
378
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.038
379
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 43 0.038
380
SLT014 Salt and Pepper Developmental Regression Syndrome 33 0.038
381
P CLR019 Color Blindness 45 0.038
382
DSC009 Discoid Lupus Erythematosus 44 0.037
383
PLX002 Plexiform Neurofibroma 39 0.037
384
PTR032 Peters-Plus Syndrome 59 0.037
385
INT065 Interstitial Keratitis 27 0.037
386
EXT033 Extrapulmonary Tuberculosis 43 0.037
387
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32 0.037
388
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 27 0.037
389
END021 Endomyocardial Fibrosis 47 0.037
390
PRS115 Prosthetic Joint Infection 41 0.037
391
MYC013 Mycobacterium Abscessus 41 0.037
392
P SRC025 Sarcoidosis 1 61 0.037
393
HMS001 Hemosiderosis 44 0.036
394
P STC001 Stickler Syndrome 56 0.036
395
HRD016 Hereditary Retinal Dystrophy 35 0.036
396
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 32 0.036
397
MSC077 Muscle Eye Brain Disease 58 0.036
398
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 46 0.036
399
AMN002 Amino Acid Metabolic Disorder 48 0.036
400
TMT002 Temtamy Preaxial Brachydactyly Syndrome 30 0.036
401
PRM026 Primary Systemic Mycosis 38 0.036
402
BSL004 Basilar Artery Occlusion 34 0.036
403
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 35 0.036
404
RBF003 Riboflavin Transporter Deficiency 21 0.036
405
PCH007 Pouchitis 38 0.036
406
MCN008 Mucinous Cystadenocarcinoma 38 0.035
407
SYM002 Sympathetic Ophthalmia 40 0.035
408
CRH005 Crohn's Colitis 50 0.035
409
LYM006 Lymphoepithelioma-Like Carcinoma 42 0.035
410
NRL005 Neurilemmoma 61 0.035
411
BLS001 Blau Syndrome 61 0.035
412
c CCK005 Cockayne Syndrome, Type a 42 0.035
413
EXT034 Extrinsic Allergic Alveolitis 52 0.035
414
P SKN013 Skin Benign Neoplasm 41 0.035
415
IDP011 Idiopathic Interstitial Pneumonia 55 0.035
416
BRS063 Breast Squamous Cell Carcinoma 36 0.034
417
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 0.034
418
c CCK006 Cockayne Syndrome, Type B 40 0.034
419
P ANP022 Anophthalmia/microphthalmia 31 0.034
420
c EYL003 Eye Lymphoma 33 0.034
421
KTL001 Keutel Syndrome 39 0.034
422
c XRD013 Xeroderma Pigmentosum, Group B 53 0.034
423
ELS001 Eales Disease 46 0.034
424
MTC097 Mitochondrial Complex Iv Deficiency 51 0.034
425
MCR018 Microcytic Anemia 44 0.034
426
LMB050 Limbal Stem Cell Deficiency 42 0.033
427
c OST106 Osteopetrosis, Autosomal Recessive 8 24 0.033
428
BRW008 Brown-Vialetto-Van Laere Syndrome 2 22 0.033
429
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42 0.033
430
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54 0.033
431
PGT008 Paget Disease of Bone 5, Juvenile-Onset 43 0.033
432
c MCP037 Mucopolysaccharidosis is 65 0.033
433
FND002 Fundus Dystrophy 39 0.033
434
VSL002 Visual Epilepsy 33 0.033
435
WLK001 Walker-Warburg Syndrome 52 0.033
436
CMB064 Combined Oxidative Phosphorylation Deficiency 24 23 0.033
437
c SCL045 Sclerosteosis 1 27 0.033
438
c OST129 Osteopetrosis, Autosomal Recessive 2 36 0.032
439
ILT001 Ileitis 46 0.032
440
P CRN012 Craniometaphyseal Dysplasia 46 0.032
441
CLN003 Clonorchiasis 42 0.032
442
c MCR256 Microphthalmia, Syndromic 9 43 0.032
443
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 48 0.032
444
c LGH008 Leigh-Like Syndrome 21 0.032
445
c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25 0.032
446
P STH001 Saethre-Chotzen Syndrome 60 0.032
447
LYM095 Lymphangiomatosis 32 0.032
448
MDR004 Madras Motor Neuron Disease 26 0.032
449
WLF002 Wolf-Hirschhorn Syndrome 50 0.032
450
MTC057 Mitochondrial Recessive Ataxia Syndrome 50 0.032
451
SHW002 Shwachman-Diamond Syndrome 61 0.031
452
GLC011 Galactose Epimerase Deficiency 44 0.031
453
P PLM040 Pulmonary Valve Disease 45 0.031
454
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51 0.031
455
c BLD124 Bleeding Disorder, Platelet-Type, 11 36 0.031
456
c SPN311 Spinocerebellar Ataxia 13 45 0.031
457
OPP002 Opportunistic Mycosis 41 0.031
458
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42 0.030
459
c ADL027 Adult Dermatomyositis 37 0.030
460
DYS022 Dyschromatosis Symmetrica Hereditaria 46 0.030
461
P SCL048 Sclerosteosis 46 0.030
462
P MYC068 Myoclonic Epilepsy of Infancy 38 0.030
463
ALS001 Alstrom Syndrome 55 0.030
464
P CRN013 Craniodiaphyseal Dysplasia 42 0.030
465
c LSS025 Lissencephaly 5 24 0.030
466
P BRS053 Breast Fibroadenoma 46 0.030
467
MLT113 Multicentric Castleman Disease 45 0.030
468
SXD001 Sex Differentiation Disease 37 0.030
469
c WRD032 Waardenburg Syndrome, Type 2a 36 0.029
470
HYP088 Hyper-Igd Syndrome 45 0.029
471
PLR001 Pleural Tuberculosis 46 0.029
472
PCH002 Pachygyria 37 0.029
473
BRS004 Breast Angiosarcoma 36 0.029
474
MRS004 Marshall-Smith Syndrome 41 0.029
475
PLM029 Palmoplantar Keratosis 42 0.029
476
AST002 Astroblastoma 32 0.029
477
ICH002 Ichthyosis Bullosa of Siemens 45 0.029
478
P SCL047 Sclerocornea 27 0.028
479
PGM002 Pigmented Basal Cell Carcinoma 27 0.028
480
EXT035 Extrinsic Cardiomyopathy 37 0.028
481
KLP001 Kleptomania 37 0.028
482
c OST120 Osteopetrosis, Autosomal Recessive 5 25 0.027
483
TNG001 Tungiasis 37 0.027
484
TRP020 Tropical Endomyocardial Fibrosis 30 0.027
485
P WHT013 White Sponge Nevus 1 40 0.027
486
c ACT066 Acute Cervicitis 29 0.027
487
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25 0.027
488
c DWL002 Dowling-Degos Disease 1 41 0.027
489
P MLN043 Melanoma, Cutaneous Malignant 8 36 0.026
490
c RTN050 Retinitis Pigmentosa 20 43 0.026
491
PRS004 Prostate Squamous Cell Carcinoma 32 0.026
492
P BNG032 Benign Mesothelioma 35 0.025
493
c CTR130 Cataract 9, Multiple Types 40 0.025
494
PRL001 Purulent Labyrinthitis 26 0.025
495
c MCL070 Macular Dystrophy, Patterned, 3 26 0.025
496
SBB001 Sbbyss Syndrome 21 0.025
497
P INT283 Integumentary System Cancer 30 0.024
498
PNC002 Pancreatic Mucinous Cystadenoma 35 0.024
499
SYN003 Synchronous Bilateral Breast Carcinoma 38 0.023
500
c HRM006 Hermansky-Pudlak Syndrome 3 49 0.023
501
c LTC001 Late Congenital Syphilis 19 0.023
502
EPT001 Epithelioid Cell Melanoma 22 0.023
503
MYS002 Myositis Fibrosa 33 0.022
504
CTN009 Cutaneous Adenocystic Carcinoma 31 0.022
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