Search results for "cardiomyopathy and deafness"

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

487 hits were found for 'cardiomyopathy and deafness'

# Family MCID Name MIFTS Score
1
CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 4 1.972
2
MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 12 1.613
3
P CRD011 Cardiomyopathy 67 0.820
4
P HRT032 Heart Disease 76 0.272
5
c BRN108 Branchiootic Syndrome 1 36 0.249
6
ATR060 Atrial Standstill, Digenic 53 0.237
7
END072 Endotheliitis 42 0.229
8
P HPT021 Hepatitis 70 0.213
9
P LKM002 Leukemia 70 0.209
10
P OBS005 Obesity 93 0.203
11
SNS001 Sensorineural Hearing Loss 57 0.200
12
P MYP004 Myopathy 67 0.197
13
P LYM118 Lymphoma 70 0.197
14
HPT074 Hepatic Adenoma, Somatic 51 0.197
15
HNM002 Hinman Syndrome 25 0.194
16
CRB009 Cerebritis 38 0.179
17
P NRP001 Neuropathy 60 0.177
18
P THY032 Thyroiditis 54 0.174
19
NRN002 Neuronitis 42 0.170
20
RTN023 Retinitis 49 0.169
21
P ATX004 Ataxia 53 0.167
22
KDS001 Kid Syndrome 53 0.161
23
P ART022 Arthritis 75 0.156
24
ART111 Artery Disease 57 0.156
25
P MSC005 Muscular Dystrophy 64 0.155
26
P AST005 Asthma 82 0.142
27
P SCH015 Schizophrenia 76 0.141
28
ALR002 Al-Raqad Syndrome 36 0.139
29
ANR040 Aneurysm 57 0.138
30
P ENC018 Encephalopathy 59 0.136
31
P EPL164 Epilepsy 66 0.135
32
P CRV039 Cervicitis 44 0.135
33
P CTR002 Cataract 57 0.130
34
DMN002 Dementia 64 0.129
35
ALC010 Alcoholic Cardiomyopathy 38 0.127
36
P AMY004 Amyloidosis 64 0.124
37
P LPS004 Lupus Erythematosus 63 0.123
38
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.120
39
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.118
40
TBR010 Tuberculosis 69 0.118
41
HYP266 Hypoxia 55 0.116
42
P HYP024 Hypoparathyroidism 52 0.116
43
P MYL006 Myeloid Leukemia 67 0.113
44
P PNM007 Pneumonia 66 0.113
45
c SYS001 Systemic Lupus Erythematosus 87 0.110
46
BNS002 Bone Structure Disease 36 0.110
47
P MSC007 Muscle Hypertrophy 59 0.107
48
P INT063 Intellectual Disability 53 0.107
49
SKN016 Skin Disease 68 0.106
50
GLC008 Glucose Metabolism Disease 47 0.106
51
AYM001 Ayme-Gripp Syndrome 45 0.105
52
P HYP086 Hypothyroidism 65 0.105
53
BRT030 Birth Defects 43 0.104
54
MSC004 Muscle Tissue Disease 36 0.104
55
ACR041 Acromelic Frontonasal Dysostosis 46 0.103
56
P INF032 Infertility 61 0.103
57
VSC007 Vascular Disease 67 0.103
58
ART021 Arteriosclerosis 59 0.103
59
BLD054 Blood Protein Disease 40 0.102
60
P PHC003 Pheochromocytoma 71 0.102
61
P NRV006 Nervous System Cancer 62 0.101
62
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.100
63
c PND001 Pain Disorder 55 0.099
64
INS024 Insulin-Like Growth Factor I 74 0.099
65
CHG001 Chagas Disease 62 0.099
66
VRL011 Viral Infectious Disease 59 0.098
67
SYN036 Syncope 47 0.098
68
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.098
69
ATN002 Autonomic Nervous System Disease 47 0.097
70
RSP006 Respiratory System Disease 62 0.097
71
CLT003 Colitis 59 0.097
72
NRM005 Neuromuscular Disease 57 0.097
73
CNN005 Connective Tissue Disease 61 0.096
74
HYP080 Hypogonadism 54 0.096
75
ALL026 Allergic Hypersensitivity Disease 53 0.095
76
MTS001 Mutism 40 0.095
77
DSS008 Disease of Mental Health 55 0.094
78
P LPD010 Lipodystrophy 52 0.094
79
LPD008 Lipid Metabolism Disorder 58 0.093
80
P MDL005 Medulloblastoma 77 0.093
81
SPS057 Spasticity 42 0.093
82
P SLP006 Sleep Apnea 61 0.093
83
P PLY019 Polyneuropathy 54 0.092
84
CHL071 Child Syndrome 58 0.092
85
LNG099 Lung Disease 62 0.092
86
TTH006 Tooth Disease 52 0.092
87
PCK002 Pick Disease 67 0.091
88
P PSR002 Psoriasis 63 0.091
89
PRT036 Peritonitis 62 0.091
90
ANX002 Anxiety Disorder 69 0.091
91
P SPS003 Spastic Diplegia 53 0.091
92
P NRV007 Nervous System Disease 71 0.090
93
P PRP019 Peripheral Nervous System Disease 54 0.090
94
P HYP060 Hyperinsulinism 59 0.090
95
P MCR010 Microcephaly 58 0.089
96
PRM097 Primary Immunodeficiency Disease 61 0.089
97
P USH001 Usher Syndrome 52 0.088
98
GTR002 Goiter 54 0.087
99
SPC010 Speech and Communication Disorders 46 0.087
100
SYS003 Systolic Heart Failure 43 0.087
101
LRN003 Learning Disability 51 0.087
102
HYP066 Hyperglycemia 60 0.086
103
ALN001 Aland Island Eye Disease 45 0.086
104
BNM001 Bone Marrow Cancer 52 0.086
105
P WLF004 Wolfram Syndrome 61 0.085
106
ORL015 Oral Squamous Cell Carcinoma 56 0.083
107
DBT090 Diabetes and Deafness, Maternally Inherited 33 0.082
108
VSC011 Vasculitis 62 0.082
109
P THL005 Thalassemia 61 0.082
110
TST021 Testicular Germ Cell Tumor 70 0.082
111
BCK001 Becker Muscular Dystrophy 68 0.082
112
NSD001 Nose Disease 52 0.081
113
P CLL015 Collagen Disease 49 0.081
114
ETN001 Eating Disorder 60 0.081
115
DWN001 Down Syndrome 65 0.081
116
P RSP003 Respiratory Failure 70 0.080
117
MVM001 Movement Disease 54 0.079
118
EWN003 Ewing Sarcoma 64 0.079
119
DFC004 Deficiency Anemia 65 0.079
120
P THR014 Thrombocytopenia 64 0.079
121
P RBL001 Rubella 56 0.079
122
P AST007 Astrocytoma 65 0.078
123
PHY002 Physical Disorder 44 0.078
124
c CHR089 Chronic Kidney Failure 66 0.078
125
P HYP076 Hyperthyroidism 56 0.077
126
P HYD006 Hydrocephalus 67 0.077
127
P INT068 Intestinal Disease 61 0.077
128
P END033 Endocarditis 52 0.077
129
PRM025 Primary Bacterial Infectious Disease 43 0.077
130
P BPL003 Bipolar Disorder 62 0.077
131
BRN106 Burns 52 0.077
132
GLB003 Globe Disease 35 0.077
133
NRN004 Neuroendocrine Tumor 54 0.076
134
OBS061 Obstructive Sleep Apnea 66 0.076
135
CRH001 Crohn's Disease 76 0.076
136
EPD016 Epidermolysis Bullosa 57 0.076
137
ALP008 Alopecia 55 0.075
138
GST045 Gastroenteritis 60 0.075
139
GRM001 Germ Cell and Embryonal Cancer 39 0.074
140
LKC003 Leukocyte Disease 47 0.074
141
c DFN196 Deafness, Autosomal Dominant 22 25 0.074
142
MHR001 Mohr-Tranebjaerg Syndrome 40 0.074
143
P HRP006 Herpes Simplex 65 0.073
144
WLF001 Wolff-Parkinson-White Syndrome 57 0.073
145
PRD011 Proud Syndrome 42 0.073
146
ECT006 Ectodermal Dysplasia 47 0.073
147
CYT008 Cytomegalovirus Infection 51 0.073
148
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.073
149
WLL006 Wells Syndrome 56 0.073
150
P GRV001 Graves' Disease 61 0.073
151
SPC003 Specific Developmental Disorder 40 0.072
152
P VNT002 Ventricular Septal Defect 59 0.072
153
GRW007 Growth Hormone Deficiency 48 0.072
154
P NTR004 Neutropenia 59 0.071
155
P CNJ013 Conjunctivitis 65 0.071
156
ATN004 Autonomic Neuropathy 44 0.071
157
P SHR029 Short Syndrome 60 0.071
158
PLM010 Pulmonary Edema 56 0.070
159
CRC006 Carcinoid Syndrome 51 0.070
160
TTN003 Tetanus 61 0.070
161
BRN028 Brain Cancer 70 0.070
162
P LCT001 Lactic Acidosis 52 0.070
163
KRT009 Keratosis 50 0.069
164
P HYP265 Hypotonia 39 0.069
165
AND005 Androgen Insensitivity Syndrome, Mild 16 0.069
166
CHL123 Chlamydia 59 0.068
167
P ANT006 Antiphospholipid Syndrome 58 0.067
168
THY028 Thyroid Cancer 68 0.067
169
PRS036 Parasitic Protozoa Infectious Disease 45 0.067
170
PMP001 Pemphigus 49 0.067
171
ALL006 Allergic Asthma 58 0.067
172
PRT037 Pertussis 64 0.066
173
OPT006 Optic Nerve Disease 51 0.066
174
END057 Endometrial Cancer 75 0.066
175
P MYS003 Myasthenia Gravis 65 0.066
176
HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 52 0.066
177
HDN002 Head Injury 45 0.066
178
FST001 Foster-Kennedy Syndrome 34 0.066
179
P ANR007 Anorexia Nervosa 63 0.066
180
CNG069 Congenital Cytomegalovirus 34 0.066
181
GLC003 Glucose Intolerance 55 0.065
182
c MTR002 Mitral Valve Insufficiency 44 0.065
183
P ENC011 Encephalomyopathy 34 0.065
184
P MYS005 Myositis 56 0.065
185
TRY001 Trypanosomiasis 52 0.064
186
FTT001 Fatty Liver Disease 60 0.064
187
OBS002 Obsessive-Compulsive Disorder 66 0.064
188
P MTC069 Mitochondrial Disorders 52 0.064
189
c CRD102 Cardiomyopathy, Dilated, 1j 25 0.064
190
MDS022 Mediastinitis 41 0.064
191
P CHR071 Charcot-Marie-Tooth Disease 66 0.063
192
MCR013 Microphthalmia 59 0.063
193
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.062
194
SCH014 Schistosomiasis 58 0.062
195
BND014 Bone Development Disease 42 0.062
196
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.062
197
SCK003 Sickle Cell Anemia 68 0.062
198
c PRM023 Pre-Malignant Neoplasm 43 0.061
199
NNL002 Nonalcoholic Steatohepatitis 53 0.061
200
SNT004 Sinoatrial Node Dysfunction and Deafness 27 0.061
201
CHR001 Churg-Strauss Syndrome 49 0.060
202
SVR004 Severe Combined Immunodeficiency 68 0.060
203
OVR063 Overnutrition 49 0.060
204
P BRC006 Brachydactyly 52 0.060
205
SXD001 Sex Differentiation Disease 40 0.060
206
RDN001 Reading Disorder 39 0.060
207
P LMY004 Leiomyosarcoma 53 0.059
208
ADP007 Adie Pupil 34 0.059
209
DWR001 Dwarfism 46 0.059
210
TRN018 Transitional Cell Carcinoma 54 0.059
211
BCT015 Bacteremia 48 0.059
212
NRM004 Neuroma 48 0.059
213
END038 Endocrine Pancreas Disease 43 0.059
214
PRN021 Paranasal Sinus Disease 50 0.059
215
NSL022 Nasal Cavity Disease 42 0.059
216
P HMR012 Hemorrhagic Fever 55 0.058
217
c CNT015 Central Sleep Apnea 44 0.058
218
P LGH007 Leigh Syndrome 70 0.058
219
ACR002 Acrocapitofemoral Dysplasia 36 0.058
220
MYC033 Myoclonus 41 0.058
221
c ATM022 Autoimmune Myocarditis 41 0.058
222
KRN002 Kearns-Sayre Syndrome 59 0.058
223
MXD023 Mixed Cell Type Cancer 47 0.057
224
DNT012 Dental Caries 46 0.057
225
CRB002 Cerebral Primitive Neuroectodermal Tumor 45 0.057
226
DMD003 Dmd-Associated Dilated Cardiomyopathy 18 0.057
227
PRP016 Paraplegia 49 0.057
228
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.056
229
WLL001 Williams-Beuren Syndrome 61 0.056
230
SCK005 Sickle Cell Disease 49 0.056
231
APH002 Aphasia 53 0.056
232
GLM011 Glomerulosclerosis 44 0.056
233
P LKM068 Leukemia, Chronic Myeloid, Somatic 66 0.056
234
P XLN007 X-Linked Disease 34 0.056
235
TTZ003 Tietz Albinism-Deafness Syndrome 38 0.056
236
c CHR417 Chronic Graft Versus Host Disease 50 0.055
237
CRY002 Cryptorchidism 62 0.055
238
MRB003 Morbid Obesity 58 0.055
239
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.055
240
c CNG031 Congenital Nervous System Abnormality 39 0.055
241
P TRN020 Turner Syndrome 64 0.054
242
RCT015 Reactive Arthritis 62 0.054
243
BLM002 Bulimia Nervosa 54 0.054
244
ACH005 Achalasia 54 0.054
245
UPP004 Upper Respiratory Tract Disease 48 0.053
246
P CRT072 Creutzfeldt-Jakob Disease 63 0.053
247
ATM014 Autoimmune Disease of Endocrine System 37 0.053
248
P MTC004 Mitochondrial Encephalomyopathy 40 0.053
249
P TXP001 Toxoplasmosis 60 0.053
250
FNT004 Fainting 33 0.053
251
THR013 Thoracic Outlet Syndrome 49 0.053
252
DVL001 Developmental Coordination Disorder 37 0.052
253
P 3MT007 3-Methylglutaconic Aciduria 38 0.052
254
LPM004 Lipoma 58 0.052
255
P JRV003 Jervell and Lange-Nielsen Syndrome 52 0.052
256
STT001 Status Epilepticus 59 0.052
257
P ACT135 Acute Graft Versus Host Disease 53 0.052
258
P SCL018 Scoliosis 56 0.052
259
HYP017 Hypophosphatemia 42 0.052
260
THY030 Thyroid Gland Disease 51 0.052
261
P SDR002 Siderosis 44 0.052
262
QFV001 Q Fever 60 0.051
263
SKL017 Skeletal Dysplasias 45 0.051
264
P EHL001 Ehlers-Danlos Syndrome 61 0.051
265
P CCK001 Cockayne Syndrome 59 0.051
266
SKL014 Skeletal Dysplasia 46 0.051
267
SML019 Smallpox 53 0.051
268
LPD009 Lipid Storage Disease 49 0.051
269
NRF007 Neurofibroma 52 0.050
270
P CRN037 Craniosynostosis 65 0.050
271
P PSD087 Pseudoxanthoma Elasticum 67 0.050
272
ECH003 Echinococcosis 53 0.050
273
P GND004 Gonadal Dysgenesis 53 0.050
274
TXC005 Toxic Shock Syndrome 61 0.050
275
ANR002 Aniridia 60 0.050
276
P MST009 Mastocytosis 54 0.049
277
P FCL005 Focal Segmental Glomerulosclerosis 59 0.049
278
URM002 Uremia 50 0.049
279
TST014 Testicular Cancer 52 0.049
280
DCT002 Ductal Carcinoma in Situ 51 0.049
281
MYX004 Myxedema 38 0.049
282
P SPN052 Spondyloarthropathy 60 0.049
283
INT075 Intracranial Hypertension 53 0.048
284
END041 Endometrial Adenocarcinoma 56 0.048
285
P CHR084 Chromosomal Disease 37 0.048
286
ATS008 Autosomal Dominant Disease 42 0.048
287
PRG097 Paragangliomas 1, with or Without Deafness 58 0.047
288
HMG005 Hemoglobinopathy 50 0.047
289
P DGR001 Digeorge Syndrome 52 0.047
290
HYP085 Hypothalamic Disease 44 0.047
291
TCL003 T Cell Deficiency 45 0.047
292
MLG056 Malignant Hyperthermia 57 0.047
293
DYS018 Dysostosis 44 0.047
294
MYT011 Myotonia 40 0.046
295
HMS001 Hemosiderosis 45 0.046
296
CNJ012 Conjunctival Disease 46 0.046
297
HPT022 Hepatoblastoma 53 0.046
298
SPL018 Splenomegaly 44 0.045
299
HYP077 Hypertrichosis 52 0.045
300
c SVR005 Severe Pre-Eclampsia 48 0.045
301
STT002 Status Asthmaticus 43 0.045
302
c INT072 Intestinal Pseudo-Obstruction 46 0.045
303
RTN020 Retinal Vascular Disease 50 0.045
304
CNT017 Central Nervous System Origin Vertigo 28 0.045
305
P RFS001 Refsum Disease 62 0.045
306
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 61 0.044
307
P BRD002 Bardet-Biedl Syndrome 62 0.044
308
ADN009 Adenosquamous Carcinoma 51 0.044
309
c CNG027 Congenital Hemolytic Anemia 48 0.043
310
CYS014 Cystadenocarcinoma 46 0.043
311
PLM070 Pulmonic Stenosis 59 0.043
312
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 31 0.043
313
MLR002 Miliary Tuberculosis 42 0.043
314
INT067 Interstitial Nephritis 47 0.043
315
FBR019 Fibromatosis 42 0.043
316
THL010 Thalassemia Minor 38 0.043
317
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 45 0.042
318
ESN002 Eosinophilia-Myalgia Syndrome 41 0.042
319
PLV003 Pelvic Inflammatory Disease 53 0.042
320
SMT008 Smith-Magenis Syndrome 51 0.042
321
FLL027 Fallopian Tube Carcinoma 58 0.042
322
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 38 0.042
323
P EXP004 Exophthalmos 54 0.042
324
c PRG106 Progressive Muscular Dystrophy 41 0.042
325
HRD059 Hereditary Peripheral Nervous Disorder 14 0.042
326
MLT008 Multinodular Goiter 41 0.042
327
P CRD013 Cardiofaciocutaneous Syndrome 63 0.041
328
c ATM024 Autoimmune Pancreatitis 46 0.041
329
P NNN008 Noonan Syndrome 1 67 0.041
330
CHR103 Charge Syndrome 64 0.041
331
MNR002 Meniere's Disease 50 0.041
332
P DRM007 Dermatitis Herpetiformis 46 0.041
333
SPH010 Sphingolipidosis 45 0.041
334
ATS009 Autosomal Genetic Disease 39 0.041
335
CCC002 Coccidiosis 49 0.041
336
WDH003 Woodhouse-Sakati Syndrome 41 0.041
337
RHM028 Rheumatic Heart Disease 51 0.040
338
P TMP003 Temporal Arteritis 60 0.040
339
P PRX010 Paroxysmal Ventricular Fibrillation 39 0.040
340
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 52 0.040
341
c HRD088 Hereditary Neuropathies 41 0.040
342
P PST059 Pustular Psoriasis 35 0.040
343
P KLL001 Kallmann Syndrome 60 0.039
344
THR035 Thrombasthenia 42 0.039
345
EXT035 Extrinsic Cardiomyopathy 39 0.039
346
CYT005 Cytomegalovirus Retinitis 49 0.039
347
STR008 Strongyloidiasis 50 0.039
348
CCC001 Coccidioidomycosis 55 0.039
349
P PRM011 Primary Ciliary Dyskinesia 58 0.038
350
c SCN006 Secondary Syphilis 41 0.038
351
HYP070 Hyperpituitarism 40 0.038
352
PBL001 Piebaldism 57 0.038
353
PLM029 Palmoplantar Keratosis 42 0.038
354
ALV002 Alveolar Echinococcosis 51 0.038
355
c CNG012 Congenital Generalized Lipodystrophy 45 0.038
356
PTY004 Pityriasis Lichenoides 24 0.037
357
PLC001 Placenta Accreta 43 0.037
358
GLM008 Glomus Tumor 42 0.037
359
P FML012 Familial Partial Lipodystrophy 51 0.037
360
END031 Endometrial Stromal Sarcoma 49 0.037
361
JHN001 Johanson-Blizzard Syndrome 46 0.037
362
c GRV008 Graves Disease 1 45 0.036
363
P CRN074 Coronary Artery Aneurysm 44 0.036
364
BRS099 Breast Ductal Carcinoma 52 0.036
365
LYM006 Lymphoepithelioma-Like Carcinoma 42 0.036
366
c NPH055 Nephrotic Syndrome, Type 1 59 0.036
367
UTR024 Uterine Carcinosarcoma 52 0.036
368
URN003 Urinary Schistosomiasis 47 0.036
369
P EPD009 Epidermolysis Bullosa Dystrophica 54 0.036
370
WLF002 Wolf-Hirschhorn Syndrome 45 0.035
371
ENT003 Enterobiasis 47 0.035
372
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.035
373
CFF002 Coffin-Lowry Syndrome 55 0.035
374
CRN027 Corneal Neovascularization 48 0.035
375
MTR007 Motor Peripheral Neuropathy 43 0.035
376
SZR001 Sezary's Disease 53 0.035
377
c CNG464 Congenital Myopathy 50 0.035
378
P ADM011 Adams-Oliver Syndrome 48 0.035
379
ESN015 Eosinophilic Fasciitis 46 0.034
380
PRS115 Prosthetic Joint Infection 43 0.034
381
SYM002 Sympathetic Ophthalmia 40 0.034
382
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 54 0.034
383
CML001 Cumulative Trauma Disorders 21 0.034
384
c MNN043 Meningioma, Familial 60 0.034
385
P AND016 Andersen Syndrome 58 0.034
386
c SBC003 Subacute Bacterial Endocarditis 35 0.034
387
ACT098 Acute Erythroid Leukemia 48 0.033
388
c NNN012 Noonan Syndrome 5 35 0.033
389
VND002 Van Der Woude Syndrome 51 0.033
390
DRM013 Dermoid Cyst 43 0.033
391
ALX001 Alexia 45 0.033
392
SMT002 Smooth Muscle Tumor 41 0.033
393
FRM003 Farmer's Lung 47 0.033
394
MLT113 Multicentric Castleman Disease 47 0.033
395
TTH002 Tooth Agenesis 55 0.033
396
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 30 0.033
397
IMM044 Immunoglobulin G Deficiency 35 0.032
398
c LPD037 Lipodystrophy, Familial Partial, 2 51 0.032
399
MTL002 Metal Metabolism Disorder 38 0.032
400
TRP020 Tropical Endomyocardial Fibrosis 30 0.032
401
c NNN010 Noonan Syndrome 3 36 0.032
402
PRP084 Propionicacidemia 58 0.032
403
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 49 0.031
404
c NNN021 Noonan Syndrome 8 29 0.031
405
HMR039 Hemorrhage, Intracerebral 53 0.031
406
STR044 Steroid-Resistant Nephrotic Syndrome 38 0.031
407
CRB006 Cribriform Carcinoma 43 0.031
408
PRS034 Parasitic Helminthiasis Infectious Disease 42 0.031
409
NNN026 Noonan Syndrome with Multiple Lentigines 47 0.031
410
MCC002 Mucocutaneous Leishmaniasis 46 0.031
411
GPS001 Gapo Syndrome 31 0.031
412
P MRT001 Muir-Torre Syndrome 58 0.031
413
WGN006 Wegener Granulomatosis 62 0.031
414
CRV026 Cervical Clear Cell Adenocarcinoma 36 0.030
415
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 54 0.030
416
ICH020 Ichthyosis Prematurity Syndrome 37 0.030
417
PRM026 Primary Systemic Mycosis 41 0.030
418
CRN033 Cranial Nerve Malignant Neoplasm 31 0.030
419
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38 0.030
420
MLB001 Mulibrey Nanism 44 0.030
421
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 52 0.030
422
P ART061 Arthrogryposis, Distal, Type 2a 52 0.030
423
LCH004 Lichen Disease 36 0.030
424
JVN033 Juvenile Nasopharyngeal Angiofibroma 39 0.030
425
END001 Endometrial Mucinous Adenocarcinoma 32 0.029
426
CRR007 Cirrhosis, Cryptogenic 44 0.029
427
c PRX045 Peroxisome Biogenesis Disorder 1b 51 0.029
428
c 3MT015 3-Methylglutaconic Aciduria, Type I 39 0.029
429
P ACQ022 Acquired Generalized Lipodystrophy 40 0.029
430
VRL003 Variola Major 43 0.029
431
SRC016 Sarcoglycanopathies 34 0.029
432
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 54 0.028
433
OPP002 Opportunistic Mycosis 42 0.028
434
c NNN013 Noonan Syndrome 6 30 0.028
435
MTC057 Mitochondrial Recessive Ataxia Syndrome 45 0.028
436
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 51 0.028
437
PLM016 Pleomorphic Carcinoma 36 0.027
438
c CHR576 Chronic Beryllium Disease 41 0.027
439
P RNL100 Renal Hypodysplasia/aplasia 1 54 0.027
440
CRN055 Carney Triad 39 0.027
441
CRN046 Corneal Fleck Dystrophy 36 0.026
442
c NNN025 Noonan Syndrome 10 26 0.026
443
IDP033 Idiopathic Edema 45 0.026
444
TRT003 Tertiary Syphilis 31 0.026
445
PMP008 Pemphigus Vegetans 24 0.026
446
PHN002 Phonagnosia 17 0.026
447
NRF008 Neurofibromatosis-Noonan Syndrome 44 0.026
448
MCR019 Microglandular Adenosis 38 0.026
449
c AFB002 Afibrinogenemia, Congenital 54 0.026
450
P LPR012 Leopard Syndrome 1 30 0.026
451
LNT008 Lentiginosis, Inherited Patterned 46 0.025
452
CRB147 Cerebellofaciodental Syndrome 23 0.025
453
SPR101 Superior Semicircular Canal Dehiscence Syndrome 21 0.025
454
NNT049 Nontuberculous Mycobacterial Lung Disease 41 0.025
455
HDR006 Hidradenocarcinoma 42 0.025
456
c NNN011 Noonan Syndrome 4 32 0.025
457
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 51 0.025
458
c 3MT018 3-@methylglutaconic Aciduria, Type Iv 22 0.025
459
BRN003 Branchiooculofacial Syndrome 40 0.024
460
GST036 Gastric Leiomyosarcoma 35 0.024
461
EXP001 Expressive Language Disorder 29 0.024
462
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 54 0.024
463
BRD003 Bird Fancier's Lung 38 0.024
464
PRS123 Persistent Generalized Lymphadenopathy 34 0.024
465
APC004 Apocrine Adenocarcinoma 38 0.024
466
c CTR130 Cataract 9, Multiple Types 37 0.024
467
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 0.024
468
NRS001 Neuroschistosomiasis 25 0.024
469
P PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38 0.023
470
BRS032 Breast Papillary Carcinoma 35 0.023
471
PNC002 Pancreatic Mucinous Cystadenoma 35 0.023
472
PPL013 Papillary Ependymoma 32 0.023
473
c ATS330 Autosomal Recessive Limb-Girdle Muscular Dystrophy 43 0.023
474
ADT002 Auditory System Cancer 35 0.023
475
GRW028 Growth Retardation, Developmental Delay, Facial Dysmorphism 24 0.023
476
SWT002 Sweat Gland Cancer 40 0.023
477
P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 39 0.023
478
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 36 0.022
479
c NNN024 Noonan Syndrome 9 25 0.022
480
SLC005 Selective Iga Deficiency Disease 39 0.022
481
c NNN020 Noonan Syndrome 7 29 0.022
482
PST014 Postsurgical Hypothyroidism 23 0.022
483
PRT005 Protoplasmic Astrocytoma 35 0.021
484
BRS042 Breast Scirrhous Carcinoma 30 0.021
485
GLY012 Glycogen-Rich Clear Cell Breast Carcinoma 25 0.021
486
c LPR011 Leopard Syndrome 2 23 0.021
487
PRD001 Predominantly Cortical Thymoma 23 0.020