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"

462 hits were found for 'optic atrophy and deafness'

# Family MCID Name MIFTS Score
1
c OPT053 Optic Atrophy 1 46 6.295
2
c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 21 5.042
3
c OPT055 Optic Atrophy Plus Syndrome 54 4.538
4
P WLF004 Wolfram Syndrome 61 4.503
5
MHR001 Mohr-Tranebjaerg Syndrome 40 4.477
6
c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 30 4.151
7
ART002 Arts Syndrome 53 4.079
8
c OPT022 Optic Atrophy 1 and Deafness 10 2.303
9
JNS003 Jensen Syndrome 34 2.235
10
P ATS079 Autosomal Dominant Optic Atrophy and Late-Onset Deafness 5 1.653
11
GST054 Gustavson Syndrome 14 1.625
12
XLN025 X-Linked Mental Retardation Gustavson Type 5 1.605
13
P NRP001 Neuropathy 60 0.459
14
RTN023 Retinitis 49 0.381
15
CRB009 Cerebritis 38 0.301
16
NRT004 Neuritis 52 0.261
17
NRN002 Neuronitis 42 0.248
18
c BRN108 Branchiootic Syndrome 1 36 0.234
19
END072 Endotheliitis 42 0.216
20
P ATX004 Ataxia 53 0.213
21
P HPT021 Hepatitis 70 0.207
22
CHR008 Choroiditis 43 0.204
23
P LKM002 Leukemia 70 0.203
24
OPT006 Optic Nerve Disease 51 0.192
25
P LYM118 Lymphoma 70 0.190
26
SNS001 Sensorineural Hearing Loss 57 0.190
27
DMN002 Dementia 64 0.188
28
P THY032 Thyroiditis 54 0.176
29
P ENC018 Encephalopathy 59 0.176
30
ADT003 Auditory System Disease 51 0.176
31
P CTR002 Cataract 57 0.175
32
GLB003 Globe Disease 35 0.174
33
FST001 Foster-Kennedy Syndrome 34 0.171
34
P EPL164 Epilepsy 66 0.170
35
NRM005 Neuromuscular Disease 57 0.168
36
P MYP004 Myopathy 67 0.166
37
P OBS005 Obesity 93 0.162
38
KRT004 Keratitis 70 0.161
39
P ART022 Arthritis 75 0.158
40
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.157
41
P RTN016 Retinal Degeneration 54 0.157
42
P HRT032 Heart Disease 76 0.150
43
ART111 Artery Disease 57 0.146
44
P CRV039 Cervicitis 44 0.145
45
OPT037 Optic Nerve Hypoplasia 52 0.145
46
HPT074 Hepatic Adenoma, Somatic 51 0.142
47
P DYS154 Dystonia 64 0.141
48
ALN001 Aland Island Eye Disease 45 0.141
49
P MYP006 Myopia 59 0.141
50
P NRV007 Nervous System Disease 71 0.140
51
TTR016 Tetra-Amelia Syndrome 36 0.140
52
HNM002 Hinman Syndrome 25 0.138
53
SPS057 Spasticity 42 0.137
54
ADM013 Adamantinoma of Long Bones 59 0.135
55
ALR002 Al-Raqad Syndrome 36 0.134
56
P PRP019 Peripheral Nervous System Disease 54 0.134
57
P RTN008 Retinitis Pigmentosa 79 0.133
58
P DBT005 Diabetes Insipidus 53 0.132
59
P MNN013 Meningitis 65 0.131
60
P CRD011 Cardiomyopathy 67 0.131
61
P SCH015 Schizophrenia 76 0.130
62
ATH003 Atherosclerosis 62 0.129
63
P LPS004 Lupus Erythematosus 63 0.129
64
ART021 Arteriosclerosis 59 0.126
65
MSC004 Muscle Tissue Disease 36 0.125
66
P AST005 Asthma 82 0.123
67
VSC007 Vascular Disease 67 0.123
68
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.120
69
TBR010 Tuberculosis 69 0.120
70
P UVT001 Uveitis 59 0.120
71
SKN016 Skin Disease 68 0.120
72
P NRV006 Nervous System Cancer 62 0.120
73
P CRN035 Cranial Nerve Palsy 43 0.119
74
ALL026 Allergic Hypersensitivity Disease 53 0.117
75
HYP266 Hypoxia 55 0.117
76
c SYS001 Systemic Lupus Erythematosus 87 0.116
77
P MSC005 Muscular Dystrophy 64 0.116
78
AYM001 Ayme-Gripp Syndrome 45 0.116
79
P HYD006 Hydrocephalus 67 0.116
80
CRN031 Cranial Nerve Disease 40 0.115
81
P PRM016 Primary Optic Atrophy 32 0.115
82
ANR040 Aneurysm 57 0.114
83
P PNM007 Pneumonia 66 0.114
84
P INT063 Intellectual Disability 53 0.114
85
ATN002 Autonomic Nervous System Disease 47 0.113
86
RSP006 Respiratory System Disease 62 0.113
87
BRT030 Birth Defects 43 0.113
88
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.112
89
PCK002 Pick Disease 67 0.112
90
ACR041 Acromelic Frontonasal Dysostosis 46 0.111
91
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.111
92
P ENC004 Encephalitis 61 0.110
93
P CRB042 Cerebellar Ataxia 64 0.109
94
MTH009 Mouth Disease 63 0.108
95
TTH006 Tooth Disease 52 0.108
96
P MCR010 Microcephaly 58 0.104
97
P SPS003 Spastic Diplegia 53 0.103
98
LNG099 Lung Disease 62 0.103
99
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.102
100
P MYL006 Myeloid Leukemia 67 0.102
101
GLC008 Glucose Metabolism Disease 47 0.102
102
c HPT016 Hepatitis B 64 0.101
103
P HYP086 Hypothyroidism 65 0.101
104
MVM001 Movement Disease 54 0.101
105
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.101
106
CLT003 Colitis 59 0.100
107
PHY002 Physical Disorder 44 0.100
108
BRS051 Breast Disease 62 0.100
109
P PLY019 Polyneuropathy 54 0.098
110
P INF032 Infertility 61 0.098
111
c PND001 Pain Disorder 55 0.097
112
CNN005 Connective Tissue Disease 61 0.097
113
P SLP006 Sleep Apnea 61 0.095
114
MLR004 Malaria 79 0.095
115
NSD001 Nose Disease 52 0.095
116
LPD008 Lipid Metabolism Disorder 58 0.095
117
PRP016 Paraplegia 49 0.094
118
BLD054 Blood Protein Disease 40 0.094
119
ATP002 Atopy 63 0.094
120
RTN020 Retinal Vascular Disease 50 0.093
121
HDN002 Head Injury 45 0.093
122
PRT036 Peritonitis 62 0.093
123
INT075 Intracranial Hypertension 53 0.093
124
AND005 Androgen Insensitivity Syndrome, Mild 16 0.092
125
EWN003 Ewing Sarcoma 64 0.092
126
P PSR002 Psoriasis 63 0.092
127
VSC011 Vasculitis 62 0.091
128
DSS008 Disease of Mental Health 55 0.091
129
ANX002 Anxiety Disorder 69 0.090
130
CHL071 Child Syndrome 58 0.090
131
SKN023 Skin Tag 46 0.090
132
MCR013 Microphthalmia 59 0.090
133
P CHR071 Charcot-Marie-Tooth Disease 66 0.089
134
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.089
135
BNS002 Bone Structure Disease 36 0.089
136
PRP021 Peripheral Nervous System Neoplasm 50 0.088
137
LRN003 Learning Disability 51 0.088
138
P THR014 Thrombocytopenia 64 0.087
139
ALP008 Alopecia 55 0.087
140
P RSP003 Respiratory Failure 70 0.087
141
BRN106 Burns 52 0.085
142
DFC004 Deficiency Anemia 65 0.085
143
GNG013 Gingivitis 60 0.085
144
HYP066 Hyperglycemia 60 0.085
145
ATR060 Atrial Standstill, Digenic 53 0.085
146
PRD011 Proud Syndrome 42 0.084
147
RHM027 Rheumatic Disease 57 0.084
148
KRT009 Keratosis 50 0.084
149
P THL005 Thalassemia 61 0.084
150
RDN001 Reading Disorder 39 0.083
151
P USH001 Usher Syndrome 52 0.083
152
P RBL001 Rubella 56 0.083
153
HRP004 Herpes Zoster 56 0.083
154
P SYP003 Syphilis 53 0.083
155
CRC006 Carcinoid Syndrome 51 0.082
156
P PRS038 Personality Disorder 61 0.081
157
OBS061 Obstructive Sleep Apnea 66 0.081
158
NRN004 Neuroendocrine Tumor 54 0.081
159
PHR003 Pharyngitis 58 0.081
160
P INT068 Intestinal Disease 61 0.081
161
BNF002 Bone Fracture 47 0.080
162
P HYP060 Hyperinsulinism 59 0.080
163
P PTS002 Ptosis 56 0.080
164
FML037 Female Breast Cancer 51 0.080
165
P CLL015 Collagen Disease 49 0.079
166
BRN038 Bronchial Disease 54 0.079
167
P LPD010 Lipodystrophy 52 0.079
168
APH002 Aphasia 53 0.079
169
ARC002 Arachnoiditis 38 0.078
170
GRW007 Growth Hormone Deficiency 48 0.077
171
P AMY004 Amyloidosis 64 0.076
172
P MMP001 Mumps 56 0.076
173
LNS003 Lens Disease 38 0.076
174
GST045 Gastroenteritis 60 0.076
175
PRM025 Primary Bacterial Infectious Disease 43 0.076
176
BRN028 Brain Cancer 70 0.076
177
P TXP001 Toxoplasmosis 60 0.075
178
CHR081 Choroideremia 53 0.075
179
P SCL018 Scoliosis 56 0.075
180
P SHR029 Short Syndrome 60 0.075
181
P MTC069 Mitochondrial Disorders 52 0.075
182
SXD001 Sex Differentiation Disease 40 0.075
183
P HYP265 Hypotonia 39 0.074
184
P AGN002 Agnosia 56 0.074
185
P CNJ013 Conjunctivitis 65 0.074
186
ETN001 Eating Disorder 60 0.074
187
WLL006 Wells Syndrome 56 0.074
188
c PRM023 Pre-Malignant Neoplasm 43 0.074
189
DWR001 Dwarfism 46 0.073
190
P HRP006 Herpes Simplex 65 0.073
191
MYC033 Myoclonus 41 0.073
192
BRC012 Brucellosis 65 0.072
193
P DRR001 Diarrhea 51 0.072
194
CRN025 Corneal Dystrophy 41 0.072
195
P ADT004 Auditory Neuropathy 37 0.071
196
NWC001 Newcastle Disease 54 0.071
197
NRS003 Neurosyphilis 41 0.070
198
ATN004 Autonomic Neuropathy 44 0.070
199
P ANR007 Anorexia Nervosa 63 0.070
200
CHL123 Chlamydia 59 0.070
201
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.070
202
SPC003 Specific Developmental Disorder 40 0.070
203
DWN001 Down Syndrome 65 0.070
204
ADR009 Adrenal Cortex Disease 41 0.070
205
P MYS003 Myasthenia Gravis 65 0.069
206
P SPN301 Spinocerebellar Ataxia 2 63 0.069
207
ANR002 Aniridia 60 0.069
208
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 31 0.068
209
SWL001 Swallowing Disorders 34 0.068
210
P STR020 Strabismus 53 0.068
211
END057 Endometrial Cancer 75 0.068
212
CRB037 Cerebral Palsy 54 0.066
213
c CHR089 Chronic Kidney Failure 66 0.066
214
P ANT006 Antiphospholipid Syndrome 58 0.066
215
P ATP001 Atopic Dermatitis 62 0.066
216
PLM001 Pulmonary Tuberculosis 68 0.066
217
SCH014 Schistosomiasis 58 0.065
218
SPS019 Spastic Paraparesis 34 0.065
219
P HNT016 Huntington Disease 80 0.064
220
LKC003 Leukocyte Disease 47 0.064
221
GLC003 Glucose Intolerance 55 0.064
222
P SCL015 Scleritis 49 0.064
223
c ANT034 Anterior Uveitis 49 0.064
224
ERY003 Erythema Multiforme 57 0.063
225
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.063
226
ABL002 Ablepharon-Macrostomia Syndrome 57 0.063
227
P OST001 Osteopetrosis 62 0.063
228
ADR007 Adrenoleukodystrophy 71 0.063
229
P MYS005 Myositis 56 0.062
230
P LPR003 Leprosy 68 0.062
231
THY030 Thyroid Gland Disease 51 0.061
232
BTN003 Biotinidase Deficiency 56 0.061
233
P GRV001 Graves' Disease 61 0.061
234
P CRT072 Creutzfeldt-Jakob Disease 63 0.061
235
P 3MT007 3-Methylglutaconic Aciduria 38 0.061
236
BLM002 Bulimia Nervosa 54 0.061
237
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.060
238
GPS001 Gapo Syndrome 31 0.060
239
P LCT001 Lactic Acidosis 52 0.060
240
PMP001 Pemphigus 49 0.060
241
BND014 Bone Development Disease 42 0.060
242
ADR038 Adermatoglyphia 48 0.060
243
GST078 Gastrointestinal Allergy 41 0.060
244
c ACT210 Acute Respiratory Distress Syndrome 57 0.060
245
P PHC003 Pheochromocytoma 71 0.060
246
P LGH007 Leigh Syndrome 70 0.059
247
TXC005 Toxic Shock Syndrome 61 0.059
248
KWS002 Kawasaki Disease 70 0.059
249
c HRD088 Hereditary Neuropathies 41 0.059
250
P CCK001 Cockayne Syndrome 59 0.059
251
GLM011 Glomerulosclerosis 44 0.059
252
P CRN037 Craniosynostosis 65 0.059
253
KRT006 Keratoconjunctivitis 52 0.059
254
P TMP003 Temporal Arteritis 60 0.059
255
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.058
256
MCK007 Muckle-Wells Syndrome 61 0.058
257
OBS002 Obsessive-Compulsive Disorder 66 0.058
258
HRP011 Herpes Zoster Ophthalmicus 24 0.058
259
DRS004 Door Syndrome 41 0.058
260
URM002 Uremia 50 0.058
261
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 38 0.057
262
P HYP076 Hyperthyroidism 56 0.057
263
c BCT007 Bacterial Meningitis 54 0.057
264
P ASP006 Aspergillosis 60 0.057
265
ACR002 Acrocapitofemoral Dysplasia 36 0.057
266
INT066 Interstitial Lung Disease 58 0.057
267
P SDR002 Siderosis 44 0.056
268
c HRD010 Hereditary Spastic Paraplegia 65 0.056
269
P ADL010 Adult Respiratory Distress Syndrome 60 0.056
270
NRF007 Neurofibroma 52 0.056
271
END038 Endocrine Pancreas Disease 43 0.056
272
P KLP003 Klippel-Feil Syndrome 46 0.056
273
CLC006 Calcinosis 49 0.056
274
P INT030 Intracranial Aneurysm 54 0.056
275
c MCL030 Macular Degeneration, Age-Related, 10 28 0.055
276
CHR001 Churg-Strauss Syndrome 49 0.055
277
CRN036 Craniopharyngioma 52 0.055
278
MRB003 Morbid Obesity 58 0.055
279
P ENC011 Encephalomyopathy 34 0.055
280
WST001 West Syndrome 61 0.055
281
P XLN007 X-Linked Disease 34 0.055
282
BCK001 Becker Muscular Dystrophy 68 0.055
283
c CNG006 Congenital Hypothyroidism 59 0.054
284
P HLP001 Holoprosencephaly 62 0.054
285
c HRD026 Hereditary Ataxia 47 0.054
286
P OST005 Osteogenesis Imperfecta 67 0.054
287
ATS300 Autosomal Dominant Optic Atrophy, Classic Form 10 0.054
288
P HST010 Histiocytosis 55 0.054
289
P KRB001 Krabbe Disease 69 0.054
290
CNT047 Contact Dermatitis 62 0.054
291
FCL014 Focal Epilepsy 56 0.053
292
TLN003 Telangiectasis 52 0.053
293
ATS001 Autistic Disorder 59 0.053
294
P FCL005 Focal Segmental Glomerulosclerosis 59 0.053
295
P PLY006 Polydactyly 55 0.053
296
P CRB059 Cerebellar Degeneration 32 0.053
297
CYT005 Cytomegalovirus Retinitis 49 0.053
298
P MTC003 Metachromatic Leukodystrophy 71 0.053
299
CRB045 Cerebellar Hypoplasia 48 0.053
300
OST017 Osteomyelitis 59 0.053
301
NRR002 Norrie Disease 61 0.053
302
P OLG002 Oligodendroglioma 55 0.053
303
ALX001 Alexia 45 0.052
304
WLL001 Williams-Beuren Syndrome 61 0.052
305
c KNN009 Kenny-Caffey Syndrome, Type 1 62 0.052
306
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 24 0.052
307
ART005 Arteriovenous Malformation 65 0.052
308
SNS003 Sensory Peripheral Neuropathy 47 0.051
309
SYN036 Syncope 47 0.051
310
CHN016 Cohen Syndrome 55 0.051
311
c CNT015 Central Sleep Apnea 44 0.051
312
TNS005 Tonsillitis 58 0.051
313
P HYP014 Hyperuricemia 50 0.050
314
OCL011 Ocular Motility Disease 38 0.050
315
KRT008 Keratopathy 46 0.050
316
MTR031 Motor Neuro-Ophthalmic Disorders 23 0.050
317
CLD014 Cole Disease 39 0.050
318
CRY002 Cryptorchidism 62 0.050
319
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 31 0.050
320
PRN021 Paranasal Sinus Disease 50 0.049
321
P TRN020 Turner Syndrome 64 0.049
322
c BPL002 Bipolar I Disorder 47 0.049
323
TYP007 Typhoid Fever 61 0.049
324
PRN011 Pernicious Anemia 46 0.049
325
c ATS308 Autosomal Dominant Cerebellar Ataxia 49 0.049
326
AMN001 Amenorrhea 51 0.049
327
P DYS005 Dyslexia 39 0.049
328
ARC007 Arachnoid Cysts 38 0.048
329
c ATM024 Autoimmune Pancreatitis 46 0.048
330
PLY020 Polyradiculoneuropathy 44 0.048
331
CHR103 Charge Syndrome 64 0.048
332
KRN002 Kearns-Sayre Syndrome 59 0.048
333
P PSD087 Pseudoxanthoma Elasticum 67 0.048
334
PLM012 Pulmonary Sarcoidosis 54 0.048
335
P LYM025 Lymphedema 61 0.048
336
QFV001 Q Fever 60 0.048
337
DGN001 Degenerative Disc Disease 53 0.048
338
ANN002 Anencephaly 52 0.048
339
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.047
340
P LYM007 Lymphangioleiomyomatosis 65 0.047
341
TBS001 Tabes Dorsalis 32 0.047
342
VSL005 Visual Pathway Disease 34 0.047
343
MLT035 Multifocal Choroiditis 30 0.047
344
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 54 0.047
345
RCT015 Reactive Arthritis 62 0.047
346
SKL017 Skeletal Dysplasias 45 0.047
347
c SCN036 Secondary Progressive Multiple Sclerosis 50 0.046
348
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 24 0.046
349
c INT064 Intermediate Uveitis 52 0.046
350
SKL014 Skeletal Dysplasia 46 0.046
351
HYP043 Hyperandrogenism 48 0.046
352
HYP085 Hypothalamic Disease 44 0.046
353
c MTR002 Mitral Valve Insufficiency 44 0.046
354
c PRG106 Progressive Muscular Dystrophy 41 0.046
355
P NPH009 Nephrolithiasis 60 0.046
356
HYD002 Hydronephrosis 47 0.045
357
P CRN074 Coronary Artery Aneurysm 44 0.045
358
PNC059 Punctate Inner Choroidopathy 26 0.045
359
P CRD013 Cardiofaciocutaneous Syndrome 63 0.045
360
P TYS001 Tay-Sachs Disease 71 0.045
361
PRD004 Prediabetes Syndrome 43 0.045
362
P PRR025 Perrault Syndrome 41 0.045
363
ALL009 Allergic Conjunctivitis 51 0.045
364
INT067 Interstitial Nephritis 47 0.045
365
ASP003 Aseptic Meningitis 51 0.044
366
KHL003 Kohlschutter-Tonz Syndrome 37 0.044
367
CRN033 Cranial Nerve Malignant Neoplasm 31 0.044
368
RSD004 Rosai-Dorfman Disease 39 0.044
369
PRG097 Paragangliomas 1, with or Without Deafness 58 0.044
370
c WLF009 Wolfram Syndrome 2 35 0.044
371
ATS008 Autosomal Dominant Disease 42 0.044
372
PLM010 Pulmonary Edema 56 0.043
373
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.043
374
ADP007 Adie Pupil 34 0.043
375
CLS010 Cluster Headache 45 0.043
376
PRT026 Parotitis 42 0.043
377
ATS009 Autosomal Genetic Disease 39 0.043
378
CYS014 Cystadenocarcinoma 46 0.043
379
UTR033 Uterine Corpus Cancer 50 0.043
380
DNR002 Duane-Radial Ray Syndrome 43 0.042
381
BLP004 Blepharophimosis 39 0.042
382
MLR002 Miliary Tuberculosis 42 0.042
383
CFF002 Coffin-Lowry Syndrome 55 0.042
384
P DFN296 Deafness-Onychodystrophy Syndrome 16 0.042
385
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 42 0.042
386
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 49 0.042
387
P MTH007 Methemoglobinemia 45 0.042
388
FND002 Fundus Dystrophy 46 0.041
389
P PRM011 Primary Ciliary Dyskinesia 58 0.041
390
HYP077 Hypertrichosis 52 0.041
391
EMP001 Empty Sella Syndrome 40 0.041
392
LPD009 Lipid Storage Disease 49 0.041
393
P MTC004 Mitochondrial Encephalomyopathy 40 0.041
394
CRN027 Corneal Neovascularization 48 0.041
395
HMS001 Hemosiderosis 45 0.041
396
WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 24 0.040
397
NNT017 Neonatal Adrenoleukodystrophy 46 0.040
398
c 3MT015 3-Methylglutaconic Aciduria, Type I 39 0.040
399
HYP070 Hyperpituitarism 40 0.040
400
DNN002 Donnai-Barrow Syndrome 34 0.040
401
MCR018 Microcytic Anemia 42 0.040
402
INT065 Interstitial Keratitis 26 0.039
403
ANV001 Anovulation 45 0.039
404
P BRD002 Bardet-Biedl Syndrome 62 0.039
405
P OCL013 Oculodentodigital Dysplasia 59 0.039
406
P WRD020 Waardenburg Syndrome, Type 4a 50 0.037
407
LPR001 Lepromatous Leprosy 49 0.037
408
ATS010 Autosomal Recessive Disease 41 0.037
409
SYM002 Sympathetic Ophthalmia 40 0.037
410
GRD007 Grade Iii Astrocytoma 51 0.037
411
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 30 0.037
412
CRY014 Cryptococcal Meningitis 43 0.037
413
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.037
414
NRL005 Neurilemmoma 51 0.036
415
ANG002 Angiostrongyliasis 39 0.036
416
SPH001 Sapho Syndrome 44 0.036
417
MSC077 Muscle Eye Brain Disease 56 0.036
418
ESN015 Eosinophilic Fasciitis 46 0.035
419
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.035
420
P NNN008 Noonan Syndrome 1 67 0.035
421
c PRX045 Peroxisome Biogenesis Disorder 1b 51 0.035
422
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 45 0.035
423
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 0.035
424
P STC001 Stickler Syndrome 54 0.035
425
c LGH008 Leigh-Like Syndrome 22 0.034
426
P CRN012 Craniometaphyseal Dysplasia 47 0.034
427
KTL001 Keutel Syndrome 35 0.034
428
P ACQ009 Acquired Metabolic Disease 41 0.034
429
RBF003 Riboflavin Transporter Deficiency 20 0.034
430
SPH010 Sphingolipidosis 45 0.034
431
c LTC001 Late Congenital Syphilis 24 0.033
432
c OST126 Osteopetrosis, Autosomal Recessive 1 33 0.033
433
CHR034 Chromophobe Adenoma 41 0.033
434
WLF002 Wolf-Hirschhorn Syndrome 45 0.033
435
VSL002 Visual Epilepsy 32 0.032
436
MTC057 Mitochondrial Recessive Ataxia Syndrome 45 0.032
437
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 25 0.032
438
WGN006 Wegener Granulomatosis 62 0.032
439
FRY002 Fryns Syndrome 36 0.032
440
FBR008 Fibrillary Astrocytoma 46 0.031
441
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 40 0.031
442
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 52 0.031
443
P VTR008 Vitreoretinal Degeneration 34 0.031
444
c MLG042 Malignant Otitis Externa 26 0.030
445
P SCL047 Sclerocornea 26 0.030
446
GLC011 Galactose Epimerase Deficiency 40 0.029
447
c CCK005 Cockayne Syndrome, Type a 39 0.029
448
c OST120 Osteopetrosis, Autosomal Recessive 5 23 0.029
449
c OST129 Osteopetrosis, Autosomal Recessive 2 33 0.029
450
c CCK006 Cockayne Syndrome, Type B 37 0.029
451
IDP033 Idiopathic Edema 45 0.028
452
TMT002 Temtamy Preaxial Brachydactyly Syndrome 29 0.028
453
c OST106 Osteopetrosis, Autosomal Recessive 8 21 0.028
454
BRW008 Brown-Vialetto-Van Laere Syndrome 2 21 0.028
455
c HYP623 Hyperuricemic Nephropathy, Familial Juvenile 1 31 0.027
456
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 38 0.027
457
EMB016 Emberger Syndrome 29 0.027
458
HYP110 Hyperproinsulinemia 32 0.027
459
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 24 0.026
460
SBB001 Sbbyss Syndrome 24 0.026
461
c CTR130 Cataract 9, Multiple Types 37 0.026
462
PRT005 Protoplasmic Astrocytoma 35 0.024