Search results for "optic atrophy and deafness"

The MalaCard for "optic atrophy and deafness" has been retired.
Searching MalaCards for entries containing "optic atrophy and deafness"

477 hits were found for 'optic atrophy and deafness'

# Family MCID Name MIFTS Score
1
c OPT055 Optic Atrophy Plus Syndrome 55 6.470
2
c OPT053 Optic Atrophy 1 43 6.363
3
P WLF004 Wolfram Syndrome 62 4.496
4
MHR001 Mohr-Tranebjaerg Syndrome 43 4.442
5
ART002 Arts Syndrome 53 3.994
6
c XLN066 X-Linked Charcot-Marie-Tooth Disease Type 5 14 3.428
7
c OPT022 Optic Atrophy 1 and Deafness 9 2.297
8
JNS003 Jensen Syndrome 33 2.224
9
KNG003 Konigsmark Knox Hussels Syndrome 6 2.218
10
c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 28 1.654
11
P ATS079 Autosomal Dominant Optic Atrophy and Late-Onset Deafness 4 1.634
12
GST054 Gustavson Syndrome 15 1.621
13
XLN025 X-Linked Mental Retardation Gustavson Type 7 1.601
14
P NRP001 Neuropathy 57 0.465
15
RTN023 Retinitis 49 0.388
16
CRB009 Cerebritis 36 0.310
17
c BRN108 Branchiootic Syndrome 1 36 0.310
18
NRT004 Neuritis 52 0.262
19
NRN002 Neuronitis 40 0.255
20
P ATX004 Ataxia 53 0.227
21
END072 Endotheliitis 41 0.222
22
P HPT021 Hepatitis 74 0.210
23
P LKM002 Leukemia 70 0.209
24
CHR008 Choroiditis 43 0.207
25
SNS001 Sensorineural Hearing Loss 52 0.205
26
DMN002 Dementia 62 0.196
27
P LYM118 Lymphoma 68 0.193
28
P ENC018 Encephalopathy 59 0.190
29
OPT006 Optic Nerve Disease 47 0.187
30
P CTR002 Cataract 57 0.185
31
P MYP004 Myopathy 67 0.185
32
GLB003 Globe Disease 34 0.184
33
P THY032 Thyroiditis 57 0.182
34
P EPL164 Epilepsy 60 0.174
35
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.174
36
P OBS005 Obesity 91 0.173
37
FST001 Foster-Kennedy Syndrome 31 0.169
38
KRT004 Keratitis 70 0.167
39
NRM005 Neuromuscular Disease 56 0.166
40
P ART022 Arthritis 73 0.166
41
ALR002 Al-Raqad Syndrome 36 0.162
42
P NRV007 Nervous System Disease 71 0.162
43
P RTN016 Retinal Degeneration 50 0.156
44
SPS057 Spasticity 41 0.152
45
P CRV039 Cervicitis 45 0.150
46
P HRT032 Heart Disease 64 0.150
47
OPT037 Optic Nerve Hypoplasia 50 0.149
48
P CRN211 Coronary Artery Disease 74 0.149
49
P MYP006 Myopia 58 0.148
50
ART111 Artery Disease 56 0.147
51
ALN001 Aland Island Eye Disease 45 0.147
52
P DYS154 Dystonia 62 0.145
53
PRP019 Peripheral Nervous System Disease 52 0.140
54
P RTN008 Retinitis Pigmentosa 78 0.140
55
P CRD011 Cardiomyopathy 66 0.140
56
P MNN013 Meningitis 66 0.137
57
P SCH015 Schizophrenia 78 0.136
58
VSC007 Vascular Disease 51 0.136
59
P DBT005 Diabetes Insipidus 53 0.134
60
ADT003 Auditory System Disease 49 0.134
61
AYM001 Ayme-Gripp Syndrome 40 0.134
62
MSC004 Muscle Tissue Disease 35 0.134
63
ADM013 Adamantinoma of Long Bones 57 0.133
64
c CNG401 Congenital Heart Disease 67 0.133
65
OLV001 Olivopontocerebellar Atrophy 53 0.131
66
P LPS004 Lupus Erythematosus 63 0.131
67
ATH003 Atherosclerosis 63 0.130
68
ART021 Arteriosclerosis 59 0.130
69
P INT063 Intellectual Disability 46 0.129
70
TBR010 Tuberculosis 70 0.127
71
P LVR013 Liver Disease 76 0.127
72
P PNM007 Pneumonia 67 0.126
73
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 42 0.126
74
P UVT001 Uveitis 60 0.125
75
P MSC005 Muscular Dystrophy 64 0.122
76
SKN016 Skin Disease 69 0.120
77
RSP006 Respiratory System Disease 61 0.119
78
c MCL042 Macular Degeneration, Age-Related, 1 71 0.119
79
ATN002 Autonomic Nervous System Disease 46 0.119
80
HYP266 Hypoxia 55 0.118
81
P HYD006 Hydrocephalus 68 0.118
82
P CRB042 Cerebellar Ataxia 64 0.118
83
P CRN035 Cranial Nerve Palsy 44 0.118
84
c SYS001 Systemic Lupus Erythematosus 87 0.118
85
P NRV006 Nervous System Cancer 62 0.117
86
PCK002 Pick Disease 66 0.117
87
P NRF002 Neurofibromatosis 66 0.117
88
ANR040 Aneurysm 56 0.116
89
ALL026 Allergic Hypersensitivity Disease 53 0.115
90
TTH006 Tooth Disease 52 0.115
91
P PLY019 Polyneuropathy 53 0.115
92
BRT030 Birth Defects 44 0.114
93
P AST007 Astrocytoma 66 0.114
94
CRN031 Cranial Nerve Disease 39 0.114
95
P PRM016 Primary Optic Atrophy 29 0.113
96
P INF038 Influenza 71 0.113
97
P ENC004 Encephalitis 60 0.112
98
ACR041 Acromelic Frontonasal Dysostosis 45 0.111
99
BRS051 Breast Disease 57 0.109
100
P KDN018 Kidney Disease 64 0.109
101
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.109
102
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.108
103
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.108
104
P HYP086 Hypothyroidism 63 0.108
105
P MYL006 Myeloid Leukemia 67 0.108
106
P MCR010 Microcephaly 60 0.107
107
LNG099 Lung Disease 63 0.107
108
P INF032 Infertility 61 0.107
109
PRP016 Paraplegia 49 0.106
110
ACQ007 Acquired Immunodeficiency Syndrome 60 0.104
111
GLC008 Glucose Metabolism Disease 44 0.103
112
c CNT035 Central Nervous System Disease 60 0.103
113
DSS008 Disease of Mental Health 48 0.103
114
P SPS003 Spastic Diplegia 49 0.102
115
MLR004 Malaria 80 0.102
116
PRT036 Peritonitis 65 0.102
117
CNN005 Connective Tissue Disease 60 0.102
118
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 48 0.101
119
PHY002 Physical Disorder 43 0.100
120
MVM001 Movement Disease 45 0.100
121
P SLP006 Sleep Apnea 60 0.100
122
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.099
123
CLT003 Colitis 56 0.099
124
c PND001 Pain Disorder 53 0.098
125
GST050 Gastrointestinal System Disease 58 0.098
126
P CHR071 Charcot-Marie-Tooth Disease 66 0.098
127
ATP002 Atopy 62 0.097
128
P NRB001 Neuroblastoma 70 0.097
129
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.097
130
VSC011 Vasculitis 62 0.096
131
MCR013 Microphthalmia 57 0.096
132
ANX002 Anxiety Disorder 67 0.095
133
HDN002 Head Injury 47 0.095
134
RTN020 Retinal Vascular Disease 49 0.094
135
NSD001 Nose Disease 51 0.094
136
P RSP003 Respiratory Failure 68 0.094
137
CRN024 Corneal Disease 45 0.094
138
P USH001 Usher Syndrome 54 0.093
139
VRL011 Viral Infectious Disease 56 0.093
140
P PSR002 Psoriasis 63 0.093
141
INT075 Intracranial Hypertension 52 0.092
142
P SHR029 Short Syndrome 60 0.092
143
RHM027 Rheumatic Disease 55 0.092
144
EWN003 Ewing Sarcoma 63 0.091
145
P PTS002 Ptosis 56 0.091
146
HYP066 Hyperglycemia 61 0.091
147
CHL071 Child Syndrome 58 0.091
148
BRN106 Burns 52 0.091
149
ATR060 Atrial Standstill, Digenic 51 0.090
150
P INT068 Intestinal Disease 60 0.090
151
ALP008 Alopecia 56 0.090
152
CRC006 Carcinoid Syndrome 51 0.090
153
GNG013 Gingivitis 61 0.090
154
P THL005 Thalassemia 61 0.090
155
OBS061 Obstructive Sleep Apnea 61 0.088
156
KRT009 Keratosis 50 0.088
157
P THR014 Thrombocytopenia 63 0.088
158
BNS002 Bone Structure Disease 37 0.087
159
PRP021 Peripheral Nervous System Neoplasm 49 0.087
160
P RBL001 Rubella 54 0.087
161
LRN003 Learning Disability 49 0.086
162
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.086
163
HRP004 Herpes Zoster 56 0.085
164
P SCL018 Scoliosis 56 0.085
165
P HYP060 Hyperinsulinism 58 0.084
166
P PRS038 Personality Disorder 60 0.084
167
c HYP073 Hypersensitivity Reaction Type Iv Disease 45 0.084
168
MYC033 Myoclonus 41 0.083
169
FML037 Female Breast Cancer 49 0.083
170
BRC012 Brucellosis 66 0.083
171
PRD011 Proud Syndrome 42 0.083
172
P TXP001 Toxoplasmosis 61 0.083
173
P CLL015 Collagen Disease 49 0.083
174
BRN038 Bronchial Disease 54 0.083
175
BNF002 Bone Fracture 46 0.082
176
P MMP001 Mumps 56 0.082
177
P SYP003 Syphilis 51 0.082
178
ETN001 Eating Disorder 59 0.082
179
GRW007 Growth Hormone Deficiency 49 0.082
180
ARC002 Arachnoiditis 38 0.082
181
SXD001 Sex Differentiation Disease 39 0.082
182
DWR001 Dwarfism 42 0.082
183
NRN004 Neuroendocrine Tumor 54 0.082
184
GST045 Gastroenteritis 59 0.081
185
P ADT004 Auditory Neuropathy 36 0.081
186
RDN001 Reading Disorder 39 0.081
187
PRM025 Primary Bacterial Infectious Disease 42 0.080
188
P CNJ013 Conjunctivitis 65 0.080
189
P CLC005 Celiac Disease 67 0.080
190
CHL123 Chlamydia 60 0.079
191
APH002 Aphasia 52 0.079
192
P ANR007 Anorexia Nervosa 63 0.079
193
P HYP265 Hypotonia 39 0.079
194
END057 Endometrial Cancer 75 0.078
195
CRN025 Corneal Dystrophy 40 0.078
196
c PRM023 Pre-Malignant Neoplasm 42 0.078
197
PLM001 Pulmonary Tuberculosis 69 0.077
198
PHR003 Pharyngitis 58 0.077
199
P HYP076 Hyperthyroidism 59 0.077
200
P DRR001 Diarrhea 60 0.077
201
BRN028 Brain Cancer 69 0.076
202
P AMY004 Amyloidosis 63 0.076
203
P MTC069 Mitochondrial Disorders 51 0.076
204
P GRV001 Graves' Disease 62 0.076
205
CHR081 Choroideremia 53 0.076
206
NRS003 Neurosyphilis 41 0.076
207
ATN004 Autonomic Neuropathy 44 0.076
208
P AGN002 Agnosia 56 0.076
209
P LPD010 Lipodystrophy 51 0.075
210
ANR002 Aniridia 62 0.074
211
ADR007 Adrenoleukodystrophy 74 0.074
212
WLL006 Wells Syndrome 57 0.073
213
SNS003 Sensory Peripheral Neuropathy 44 0.072
214
HPT074 Hepatic Adenoma, Somatic 35 0.072
215
SCH014 Schistosomiasis 59 0.072
216
NWC001 Newcastle Disease 51 0.072
217
DBT010 Diabetic Neuropathy 55 0.072
218
P SCL015 Scleritis 49 0.071
219
c MLT093 Multiple Sclerosis 2 20 0.071
220
P ANT006 Antiphospholipid Syndrome 60 0.071
221
P TBR001 Tuberous Sclerosis 68 0.071
222
SPC003 Specific Developmental Disorder 39 0.071
223
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.071
224
P STR020 Strabismus 55 0.071
225
P LPR003 Leprosy 70 0.070
226
P HNT016 Huntington Disease 80 0.070
227
P TRC086 Trichohepatoenteric Syndrome 1 46 0.070
228
ADR009 Adrenal Cortex Disease 40 0.070
229
VHW001 Vohwinkel Syndrome 47 0.070
230
c ANT034 Anterior Uveitis 49 0.070
231
c ATM003 Autoimmune Thyroiditis 59 0.070
232
SPS019 Spastic Paraparesis 34 0.070
233
DWN001 Down Syndrome 65 0.070
234
P HYP061 Hypertrophic Cardiomyopathy 64 0.069
235
DBT001 Diabetic Ketoacidosis 45 0.069
236
c ACT027 Acute Pancreatitis 59 0.069
237
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 31 0.068
238
END038 Endocrine Pancreas Disease 42 0.068
239
ERY003 Erythema Multiforme 57 0.068
240
OBS002 Obsessive-Compulsive Disorder 66 0.068
241
BLM002 Bulimia Nervosa 54 0.068
242
THY030 Thyroid Gland Disease 52 0.067
243
P AXN001 Axonal Neuropathy 37 0.067
244
P 3MT007 3-Methylglutaconic Aciduria 37 0.067
245
c HRD010 Hereditary Spastic Paraplegia 66 0.066
246
c HRD026 Hereditary Ataxia 46 0.066
247
P LGH007 Leigh Syndrome 70 0.066
248
P ASP006 Aspergillosis 61 0.066
249
CRB037 Cerebral Palsy 54 0.066
250
SWL001 Swallowing Disorders 33 0.066
251
KWS002 Kawasaki Disease 70 0.066
252
KRT006 Keratoconjunctivitis 51 0.065
253
KHL003 Kohlschutter-Tonz Syndrome 35 0.065
254
P PHC003 Pheochromocytoma 72 0.065
255
c HRD088 Hereditary Neuropathies 35 0.065
256
DRS004 Door Syndrome 41 0.065
257
c MTB001 Metabolic Syndrome X 61 0.065
258
P CRT072 Creutzfeldt-Jakob Disease 62 0.065
259
GST078 Gastrointestinal Allergy 41 0.065
260
GLM011 Glomerulosclerosis 41 0.065
261
CRN036 Craniopharyngioma 54 0.064
262
P MYS005 Myositis 57 0.064
263
LKC003 Leukocyte Disease 45 0.064
264
PGM003 Pigmentation Disease 34 0.064
265
PMP001 Pemphigus 49 0.064
266
ADR038 Adermatoglyphia 39 0.063
267
P TRN020 Turner Syndrome 64 0.063
268
P KLP003 Klippel-Feil Syndrome 47 0.063
269
INT066 Interstitial Lung Disease 60 0.063
270
P ADL010 Adult Respiratory Distress Syndrome 60 0.063
271
KRT001 Keratoconjunctivitis Sicca 58 0.062
272
BND014 Bone Development Disease 40 0.062
273
ASP003 Aseptic Meningitis 51 0.062
274
P INT030 Intracranial Aneurysm 52 0.062
275
P LCT001 Lactic Acidosis 52 0.062
276
c CNG006 Congenital Hypothyroidism 59 0.062
277
RCT015 Reactive Arthritis 65 0.062
278
P HMR012 Hemorrhagic Fever 55 0.062
279
CNT047 Contact Dermatitis 62 0.062
280
c BCT007 Bacterial Meningitis 55 0.061
281
CHR001 Churg-Strauss Syndrome 48 0.061
282
P LKD001 Leukodystrophy 58 0.061
283
OCL001 Ocular Albinism 46 0.061
284
P OST005 Osteogenesis Imperfecta 68 0.060
285
TXC005 Toxic Shock Syndrome 61 0.060
286
GPS001 Gapo Syndrome 35 0.060
287
OTP003 Oto-Palatal-Digital Syndrome 14 0.060
288
P HYP014 Hyperuricemia 49 0.060
289
CYT005 Cytomegalovirus Retinitis 48 0.060
290
BCK001 Becker Muscular Dystrophy 68 0.060
291
BTN003 Biotinidase Deficiency 56 0.060
292
PTT009 Pituitary Gland Disease 45 0.060
293
P TMP003 Temporal Arteritis 61 0.060
294
HRP011 Herpes Zoster Ophthalmicus 24 0.060
295
OST017 Osteomyelitis 60 0.060
296
P AGG001 Aggressive Periodontitis 49 0.059
297
P CCK001 Cockayne Syndrome 58 0.059
298
TYP007 Typhoid Fever 61 0.059
299
ATS001 Autistic Disorder 60 0.059
300
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 40 0.059
301
NRF007 Neurofibroma 53 0.059
302
P OLG002 Oligodendroglioma 55 0.059
303
c MCL030 Macular Degeneration, Age-Related, 10 25 0.059
304
c SVR001 Severe Acute Respiratory Syndrome 56 0.059
305
WST001 West Syndrome 61 0.058
306
MRB003 Morbid Obesity 59 0.058
307
MCK007 Muckle-Wells Syndrome 62 0.058
308
CLC006 Calcinosis 48 0.058
309
TNS005 Tonsillitis 58 0.058
310
OCL011 Ocular Motility Disease 41 0.058
311
P SDR002 Siderosis 44 0.058
312
P FCL005 Focal Segmental Glomerulosclerosis 59 0.057
313
CRY002 Cryptorchidism 61 0.057
314
P KRB001 Krabbe Disease 68 0.057
315
AMN001 Amenorrhea 51 0.057
316
P MTC003 Metachromatic Leukodystrophy 71 0.056
317
c ATM024 Autoimmune Pancreatitis 46 0.056
318
PRN021 Paranasal Sinus Disease 50 0.056
319
KRN002 Kearns-Sayre Syndrome 60 0.056
320
ACR002 Acrocapitofemoral Dysplasia 35 0.056
321
PLM012 Pulmonary Sarcoidosis 54 0.056
322
QFV001 Q Fever 62 0.056
323
HYP085 Hypothalamic Disease 43 0.056
324
P CRB059 Cerebellar Degeneration 30 0.056
325
P PLY006 Polydactyly 56 0.056
326
c INT064 Intermediate Uveitis 47 0.055
327
P WRD001 Waardenburg's Syndrome 56 0.055
328
CRB045 Cerebellar Hypoplasia 47 0.055
329
HYP043 Hyperandrogenism 46 0.055
330
HYP005 Hypokalemia 52 0.055
331
P HRD021 Hereditary Sensory Neuropathy 42 0.055
332
SYN036 Syncope 45 0.055
333
P ENC011 Encephalomyopathy 35 0.055
334
P HLP001 Holoprosencephaly 62 0.055
335
P NPH009 Nephrolithiasis 59 0.055
336
c CNT015 Central Sleep Apnea 43 0.054
337
P XLN007 X-Linked Disease 34 0.054
338
c BPL002 Bipolar I Disorder 45 0.054
339
FCL014 Focal Epilepsy 55 0.054
340
ALX001 Alexia 42 0.054
341
CHN016 Cohen Syndrome 55 0.053
342
P HST010 Histiocytosis 56 0.053
343
PLY020 Polyradiculoneuropathy 42 0.053
344
WLL001 Williams-Beuren Syndrome 61 0.053
345
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 24 0.053
346
TLN003 Telangiectasis 50 0.053
347
c PRG106 Progressive Muscular Dystrophy 40 0.053
348
P LYM007 Lymphangioleiomyomatosis 65 0.053
349
CLD014 Cole Disease 38 0.052
350
c ATS308 Autosomal Dominant Cerebellar Ataxia 51 0.052
351
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 41 0.052
352
HYP070 Hyperpituitarism 40 0.052
353
P PMP005 Pemphigus Vulgaris 47 0.052
354
ART005 Arteriovenous Malformation 63 0.052
355
P CRD013 Cardiofaciocutaneous Syndrome 65 0.052
356
c JVN024 Juvenile Hereditary Hemochromatosis 30 0.051
357
P LYM025 Lymphedema 60 0.051
358
c SCN036 Secondary Progressive Multiple Sclerosis 50 0.051
359
P CRN074 Coronary Artery Aneurysm 44 0.051
360
SKL017 Skeletal Dysplasias 41 0.051
361
MTB004 Metabolic Acidosis 49 0.051
362
DGN001 Degenerative Disc Disease 53 0.051
363
SKL014 Skeletal Dysplasia 44 0.051
364
ALL009 Allergic Conjunctivitis 51 0.051
365
EMP001 Empty Sella Syndrome 39 0.050
366
ARC007 Arachnoid Cysts 39 0.050
367
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 54 0.050
368
NRR002 Norrie Disease 60 0.050
369
MLT035 Multifocal Choroiditis 29 0.050
370
KRT008 Keratopathy 49 0.050
371
SPN050 Spinocerebellar Degeneration 39 0.050
372
TBS001 Tabes Dorsalis 32 0.050
373
MXD005 Mixed Connective Tissue Disease 63 0.049
374
CHR103 Charge Syndrome 64 0.049
375
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 41 0.049
376
CYS014 Cystadenocarcinoma 47 0.049
377
P OCL013 Oculodentodigital Dysplasia 58 0.049
378
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 35 0.049
379
c MTR002 Mitral Valve Insufficiency 42 0.049
380
PNC059 Punctate Inner Choroidopathy 27 0.049
381
MTR031 Motor Neuro-Ophthalmic Disorders 22 0.048
382
P DYS005 Dyslexia 38 0.048
383
ATS008 Autosomal Dominant Disease 41 0.048
384
INT067 Interstitial Nephritis 48 0.048
385
ANV001 Anovulation 44 0.048
386
ANN002 Anencephaly 50 0.048
387
P SHR001 Short Bowel Syndrome 51 0.047
388
P ACQ009 Acquired Metabolic Disease 42 0.047
389
P PRR025 Perrault Syndrome 42 0.047
390
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 44 0.046
391
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25 0.046
392
NNT017 Neonatal Adrenoleukodystrophy 45 0.046
393
UTR033 Uterine Corpus Cancer 50 0.046
394
LPD009 Lipid Storage Disease 49 0.046
395
MLR002 Miliary Tuberculosis 39 0.046
396
HYD002 Hydronephrosis 48 0.045
397
ATS010 Autosomal Recessive Disease 40 0.045
398
P MTH007 Methemoglobinemia 44 0.045
399
PRT026 Parotitis 42 0.045
400
P TYS001 Tay-Sachs Disease 72 0.045
401
BLP004 Blepharophimosis 38 0.045
402
END079 Endothelial Dystrophy 28 0.045
403
ATS009 Autosomal Genetic Disease 38 0.045
404
VSL002 Visual Epilepsy 30 0.045
405
DBT004 Diabetic Polyneuropathy 49 0.044
406
DNN002 Donnai-Barrow Syndrome 36 0.044
407
FND002 Fundus Dystrophy 46 0.044
408
RSD004 Rosai-Dorfman Disease 40 0.044
409
PRS115 Prosthetic Joint Infection 45 0.044
410
c CHR095 Chronic Progressive External Ophthalmoplegia 48 0.044
411
CRN033 Cranial Nerve Malignant Neoplasm 31 0.044
412
ANG002 Angiostrongyliasis 40 0.044
413
LPR001 Lepromatous Leprosy 50 0.044
414
P DFN296 Deafness-Onychodystrophy Syndrome 16 0.043
415
CRN027 Corneal Neovascularization 47 0.043
416
c WLF009 Wolfram Syndrome 2 35 0.043
417
WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 25 0.043
418
P SJG001 Sjogren's Syndrome 55 0.043
419
CHR034 Chromophobe Adenoma 41 0.042
420
HMS001 Hemosiderosis 42 0.042
421
c MLG042 Malignant Otitis Externa 27 0.042
422
CFF002 Coffin-Lowry Syndrome 56 0.042
423
WLK001 Walker-Warburg Syndrome 55 0.042
424
HYP077 Hypertrichosis 52 0.042
425
ESN015 Eosinophilic Fasciitis 46 0.041
426
P MTC004 Mitochondrial Encephalomyopathy 39 0.041
427
CRY014 Cryptococcal Meningitis 41 0.040
428
RBF003 Riboflavin Transporter Deficiency 23 0.040
429
MSC077 Muscle Eye Brain Disease 54 0.040
430
THL017 Thalassemia Intermedia 38 0.040
431
SPH010 Sphingolipidosis 44 0.040
432
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42 0.039
433
INT065 Interstitial Keratitis 27 0.039
434
DNR002 Duane-Radial Ray Syndrome 44 0.039
435
P BRD002 Bardet-Biedl Syndrome 64 0.039
436
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 46 0.039
437
c PRX045 Peroxisome Biogenesis Disorder 1b 50 0.038
438
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 45 0.038
439
WGN006 Wegener Granulomatosis 63 0.038
440
P STC001 Stickler Syndrome 53 0.038
441
P SCL047 Sclerocornea 27 0.038
442
SYM002 Sympathetic Ophthalmia 41 0.037
443
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 40 0.037
444
FBR008 Fibrillary Astrocytoma 43 0.037
445
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 51 0.037
446
MCR018 Microcytic Anemia 41 0.037
447
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 31 0.037
448
c LGH008 Leigh-Like Syndrome 23 0.037
449
NRL005 Neurilemmoma 47 0.036
450
P HYP623 Hyperuricemic Nephropathy, Familial Juvenile 1 35 0.036
451
MTC057 Mitochondrial Recessive Ataxia Syndrome 48 0.036
452
c CTR130 Cataract 9, Multiple Types 36 0.036
453
GLC011 Galactose Epimerase Deficiency 39 0.036
454
HYP110 Hyperproinsulinemia 32 0.036
455
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.035
456
FRY002 Fryns Syndrome 37 0.035
457
MTC097 Mitochondrial Complex Iv Deficiency 51 0.035
458
P CRN012 Craniometaphyseal Dysplasia 49 0.034
459
KTL001 Keutel Syndrome 37 0.034
460
c LTC001 Late Congenital Syphilis 21 0.033
461
c OST126 Osteopetrosis, Autosomal Recessive 1 34 0.033
462
PRT005 Protoplasmic Astrocytoma 35 0.033
463
WLF002 Wolf-Hirschhorn Syndrome 50 0.033
464
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 25 0.032
465
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 39 0.031
466
P VTR008 Vitreoretinal Degeneration 33 0.030
467
c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 32 0.030
468
EMB016 Emberger Syndrome 29 0.029
469
c CCK005 Cockayne Syndrome, Type a 39 0.029
470
c OST120 Osteopetrosis, Autosomal Recessive 5 26 0.029
471
c OST129 Osteopetrosis, Autosomal Recessive 2 33 0.029
472
c CCK006 Cockayne Syndrome, Type B 37 0.028
473
TMT002 Temtamy Preaxial Brachydactyly Syndrome 29 0.028
474
BRW008 Brown-Vialetto-Van Laere Syndrome 2 22 0.028
475
c OST106 Osteopetrosis, Autosomal Recessive 8 21 0.028
476
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 24 0.026
477
SBB001 Sbbyss Syndrome 20 0.026