Search results for Ornithine

625 hits were found for Ornithine

# Family MCID Name MIFTS Score
1
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 59 12.682
2
GYR004 Gyrate Atrophy of Choroid and Retina 57 9.502
3
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55 6.675
4
DSR020 Disorder of Ornithine Metabolism 8 3.287
5
URC002 Urea Cycle Disorder 51 2.654
6
DSR067 Disorder of Ornithine or Proline Metabolism 3 2.324
7
GLB028 Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome 8 2.267
8
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.489
9
P ENC018 Encephalopathy 61 0.335
10
HPT019 Hepatic Encephalopathy 60 0.285
11
HPT004 Hepatic Coma 45 0.283
12
OCL069 Ocular Motor Apraxia 51 0.266
13
LVR012 Liver Cirrhosis 62 0.215
14
P LVR013 Liver Disease 68 0.209
15
ORN004 Ornithinemia 17 0.209
16
P CLR023 Colorectal Cancer 99 0.197
17
P NRB001 Neuroblastoma 72 0.174
18
ORT008 Orotic Aciduria 55 0.172
19
ADN018 Adenoma 59 0.149
20
c ACT134 Acute Liver Failure 56 0.146
21
P BRS047 Breast Cancer 97 0.138
22
RYS001 Reye Syndrome 51 0.138
23
c INH020 Inherited Metabolic Disorder 47 0.138
24
SLP001 Sleeping Sickness 54 0.131
25
PPL022 Papilloma 54 0.128
26
P GLM045 Glioma 63 0.125
27
CHL014 Cholera 59 0.125
28
BRN004 Brain Edema 56 0.125
29
HLX001 Helix Syndrome 47 0.125
30
SQM002 Squamous Cell Papilloma 46 0.125
31
P ADN016 Adenocarcinoma 64 0.122
32
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.118
33
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.111
34
P GST053 Gastric Cancer 83 0.107
35
GLL048 Glial Tumor 45 0.107
36
P HYP265 Hypotonia 43 0.107
37
P SKN015 Skin Carcinoma 66 0.103
38
PRT037 Pertussis 65 0.099
39
ERY051 Erythroleukemia, Familial 56 0.099
40
P RTN016 Retinal Degeneration 53 0.099
41
ATS010 Autosomal Recessive Disease 48 0.099
42
P HPT023 Hepatocellular Carcinoma 100 0.095
43
P LKM002 Leukemia 68 0.095
44
P HPT021 Hepatitis 67 0.095
45
CLR108 Colorectal Adenoma 64 0.095
46
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.095
47
HYP266 Hypoxia 57 0.095
48
P GST044 Gastritis 56 0.095
49
TRY001 Trypanosomiasis 50 0.095
50
P PRS040 Prostate Cancer 97 0.091
51
P PHC003 Pheochromocytoma 71 0.091
52
CTR172 Citrullinemia, Classic 64 0.091
53
LSH001 Leishmaniasis 63 0.091
54
SQM006 Squamous Cell Carcinoma 60 0.091
55
ARG007 Argininemia 57 0.091
56
ADR040 Adrenal Gland Pheochromocytoma 46 0.091
57
P KLZ004 Kala-Azar 1 41 0.091
58
48X005 48,xyyy 39 0.091
59
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.086
60
P FML011 Familial Adenomatous Polyposis 72 0.086
61
HYP056 Hypoglycemia 66 0.086
62
LYS003 Lysinuric Protein Intolerance 57 0.086
63
P HYP076 Hyperthyroidism 55 0.086
64
c INF145 Infantile Liver Failure Syndrome 1 50 0.086
65
P RTN008 Retinitis Pigmentosa 79 0.081
66
P RTN024 Retinoblastoma 73 0.081
67
P THR014 Thrombocytopenia 67 0.081
68
CLN015 Colon Adenocarcinoma 65 0.081
69
CYS013 Cystinuria 63 0.081
70
TRN015 Transient Cerebral Ischemia 63 0.081
71
c FML008 Familial Retinoblastoma 53 0.081
72
P ATR005 Atrophic Gastritis 50 0.081
73
RTN023 Retinitis 46 0.081
74
NRR001 Neuroretinitis 42 0.081
75
ESP021 Esophageal Cancer 90 0.076
76
P BLD134 Bladder Cancer 79 0.076
77
BRR014 Barrett Esophagus 65 0.076
78
c ATM011 Autoimmune Hepatitis 63 0.076
79
FTT001 Fatty Liver Disease 61 0.076
80
P PNC044 Pancreatitis 61 0.076
81
c ACT027 Acute Pancreatitis 60 0.076
82
PRT013 Portal Hypertension 59 0.076
83
P FBR017 Fibrosarcoma 56 0.076
84
P DRR001 Diarrhea 55 0.076
85
c VRL010 Viral Hepatitis 52 0.076
86
SBC016 Subacute Delirium 44 0.076
87
P LNG032 Lung Cancer 98 0.070
88
P PNC035 Pancreatic Cancer 84 0.070
89
GLB015 Glioblastoma Multiforme 75 0.070
90
CHG001 Chagas Disease 66 0.070
91
VSL002 Visual Epilepsy 59 0.070
92
ISC004 Ischemia 58 0.070
93
P SZR006 Seizure Disorder 56 0.070
94
VSC003 Visceral Leishmaniasis 55 0.070
95
P CRB088 Cerebral Atrophy 37 0.070
96
HPT085 Hepatitis, Fulminant Viral 32 0.070
97
STR067 Stroke, Ischemic 81 0.064
98
PRP001 Propionic Acidemia 65 0.064
99
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.064
100
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 63 0.064
101
P BLD124 Bleeding Disorder, Platelet-Type, 11 63 0.064
102
c HPT001 Hepatitis C 62 0.064
103
NTR005 Nutritional Deficiency Disease 62 0.064
104
ARG002 Argininosuccinic Aciduria 61 0.064
105
c HPT016 Hepatitis B 59 0.064
106
P MYP006 Myopia 55 0.064
107
NNL006 Non-Alcoholic Steatohepatitis 54 0.064
108
INT075 Intracranial Hypertension 53 0.064
109
KRT002 Keratomalacia 47 0.064
110
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.064
111
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.064
112
CYT002 Cytokine Deficiency 42 0.064
113
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.064
114
KDN013 Kidney Hypertrophy 32 0.064
115
c HYP595 Hypertension, Essential 84 0.057
116
CRH001 Crohn's Disease 74 0.057
117
ULC004 Ulcerative Colitis 73 0.057
118
P HYP086 Hypothyroidism 69 0.057
119
OST159 Osteogenic Sarcoma 66 0.057
120
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.057
121
SRC014 Sarcoma 65 0.057
122
P PRS038 Personality Disorder 65 0.057
123
PRT036 Peritonitis 64 0.057
124
NRR002 Norrie Disease 64 0.057
125
SKN016 Skin Disease 63 0.057
126
P PSR002 Psoriasis 62 0.057
127
CRC021 Carcinosarcoma 62 0.057
128
NNL005 Non-Alcoholic Fatty Liver Disease 61 0.057
129
HYP066 Hyperglycemia 61 0.057
130
RTN017 Retinal Detachment 61 0.057
131
P CTR002 Cataract 60 0.057
132
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 0.057
133
EYD002 Eye Disease 58 0.057
134
P MTC069 Mitochondrial Disorders 56 0.057
135
P NRP001 Neuropathy 56 0.057
136
HYP005 Hypokalemia 55 0.057
137
HYP060 Hyperinsulinism 54 0.057
138
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 54 0.057
139
P TRM003 Tremor 54 0.057
140
HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53 0.057
141
SPN035 Spindle Cell Sarcoma 53 0.057
142
CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 52 0.057
143
TRM010 Traumatic Brain Injury 51 0.057
144
BRN071 Brain Injury 49 0.057
145
HDN002 Head Injury 46 0.057
146
ORG002 Organic Acidemia 44 0.057
147
P HYP769 Hyperlysinemia, Type I 41 0.057
148
AMN002 Amino Acid Metabolic Disorder 39 0.057
149
EPD052 Epidermolysis Bullosa Simplex Superficialis 24 0.057
150
P ALZ034 Alzheimer Disease 88 0.050
151
c SYS001 Systemic Lupus Erythematosus 86 0.050
152
P ATX030 Ataxia-Telangiectasia 82 0.050
153
MLR004 Malaria 81 0.050
154
P RTT002 Rett Syndrome 80 0.050
155
INS024 Insulin-Like Growth Factor I 79 0.050
156
c HMC039 Hemochromatosis, Type 1 74 0.050
157
MSC157 Muscular Dystrophy, Duchenne Type 72 0.050
158
GST040 Gastric Adenocarcinoma 70 0.050
159
P MLN008 Melanoma 69 0.050
160
CRB037 Cerebral Palsy 69 0.050
161
PNC129 Pancreatic Adenocarcinoma 68 0.050
162
P CHR012 Chronic Granulomatous Disease 67 0.050
163
P PLM037 Pulmonary Hypertension 67 0.050
164
P MSC005 Muscular Dystrophy 66 0.050
165
c SML038 Small Cell Cancer of the Lung 65 0.050
166
TTN003 Tetanus 65 0.050
167
MSC007 Muscle Hypertrophy 64 0.050
168
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.050
169
c SVR001 Severe Acute Respiratory Syndrome 62 0.050
170
MNN042 Meningioma, Radiation-Induced 62 0.050
171
FBR086 Fibrolamellar Carcinoma 61 0.050
172
DPH001 Diphtheria 60 0.050
173
LNG099 Lung Disease 60 0.050
174
ORL011 Oral Cancer 60 0.050
175
GST045 Gastroenteritis 59 0.050
176
HLC007 Helicobacter Pylori Infection 59 0.050
177
CNS004 Constipation 58 0.050
178
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 57 0.050
179
P GLM007 Glomerulonephritis 57 0.050
180
IRN002 Iron Metabolism Disease 57 0.050
181
AGN016 Aging 56 0.050
182
ACT058 Active Peptic Ulcer Disease 55 0.050
183
P ALP008 Alopecia 54 0.050
184
PRS045 Prostatic Hypertrophy 53 0.050
185
GST023 Gastric Ulcer 53 0.050
186
TXC002 Toxic Encephalopathy 53 0.050
187
PST011 Pustulosis of Palm and Sole 52 0.050
188
P RCT021 Rectum Cancer 52 0.050
189
PRS021 Prostatic Adenoma 51 0.050
190
KRT009 Keratosis 51 0.050
191
P AST007 Astrocytoma 51 0.050
192
PRS129 Prostatic Hyperplasia, Benign 49 0.050
193
c DRR009 Diarrhea 6 46 0.050
194
c MLG068 Malignant Glioma 46 0.050
195
CRB004 Cerebral Artery Occlusion 45 0.050
196
CRT015 Carotid Artery Occlusion 45 0.050
197
c PRM038 Primary Agammaglobulinemia 44 0.050
198
DRG002 Drug-Induced Hepatitis 43 0.050
199
ANX004 Anoxia 40 0.050
200
CHL045 Choline Deficiency Disease 39 0.050
201
ACR005 Acrodermatitis 38 0.050
202
HRW001 Hair Whorl 36 0.050
203
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.050
204
CHL079 Children's Interstitial Lung Disease 26 0.050
205
ENT007 Enteropathica 26 0.050
206
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.050
207
MYL069 Myeloma, Multiple 85 0.041
208
CYS001 Cystic Fibrosis 81 0.041
209
P GLM040 Glioma Susceptibility 1 81 0.041
210
P LKM071 Leukemia, Chronic Lymphocytic 79 0.041
211
PLM134 Pulmonary Fibrosis, Idiopathic 77 0.041
212
PHN003 Phenylketonuria 75 0.041
213
END057 Endometrial Cancer 74 0.041
214
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.041
215
P KDN018 Kidney Disease 72 0.041
216
P HNT016 Huntington Disease 72 0.041
217
c LKM063 Leukemia, Chronic Myeloid 72 0.041
218
P EPL164 Epilepsy 71 0.041
219
ADL002 Adult Syndrome 70 0.041
220
P ASP006 Aspergillosis 69 0.041
221
PLM001 Pulmonary Tuberculosis 69 0.041
222
P LYM118 Lymphoma 68 0.041
223
c BSL007 Basal Cell Carcinoma 68 0.041
224
c MGR028 Migraine with or Without Aura 1 67 0.041
225
c RHB024 Rhabdomyosarcoma 2 67 0.041
226
c FML346 Familial Adenomatous Polyposis 1 66 0.041
227
P PLM036 Pulmonary Fibrosis 65 0.041
228
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.041
229
P DBT009 Diabetes Mellitus 64 0.041
230
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.041
231
P RHB003 Rhabdomyosarcoma 63 0.041
232
END041 Endometrial Adenocarcinoma 63 0.041
233
CLT003 Colitis 62 0.041
234
P ESP024 Esophagitis 62 0.041
235
ALL026 Allergic Hypersensitivity Disease 62 0.041
236
P PRM006 Primary Biliary Cirrhosis 62 0.041
237
CHL068 Cholestasis 61 0.041
238
c WLM018 Wilms Tumor 5 61 0.041
239
P MYL006 Myeloid Leukemia 60 0.041
240
P FTT008 Fatty Liver Disease, Nonalcoholic 1 60 0.041
241
STT001 Status Epilepticus 60 0.041
242
THY029 Thyroid Carcinoma 59 0.041
243
GRD007 Grade Iii Astrocytoma 59 0.041
244
ALK013 Alkaptonuria 58 0.041
245
P GLL018 Gallbladder Cancer 57 0.041
246
P INF032 Infertility 57 0.041
247
CHL067 Cholecystitis 57 0.041
248
P EXN002 Exanthem 57 0.041
249
DSS009 Disseminated Intravascular Coagulation 57 0.041
250
BLR008 Bilirubin Metabolic Disorder 57 0.041
251
P PYL005 Pyelonephritis 56 0.041
252
EMB004 Embryonal Carcinoma 56 0.041
253
ISV001 Isovaleric Acidemia 55 0.041
254
HMP005 Hemiplegia 55 0.041
255
GLS001 Gliosarcoma 54 0.041
256
P INF037 Inflammatory Bowel Disease 54 0.041
257
P INS002 in Situ Carcinoma 53 0.041
258
P HMC002 Homocystinuria 53 0.041
259
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.041
260
P RTN018 Retinal Disease 53 0.041
261
CHR073 Choreatic Disease 52 0.041
262
PRP016 Paraplegia 52 0.041
263
TLN003 Telangiectasis 52 0.041
264
P SPP010 Suppressor of Tumorigenicity 3 51 0.041
265
P LCT001 Lactic Acidosis 51 0.041
266
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.041
267
SKN013 Skin Benign Neoplasm 51 0.041
268
HPT014 Hepatorenal Syndrome 50 0.041
269
STM007 Stomatitis 50 0.041
270
47X002 47,xyy 49 0.041
271
c INV001 Invasive Aspergillosis 49 0.041
272
VCC001 Vaccinia 49 0.041
273
P NGH001 Night Blindness 48 0.041
274
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 47 0.041
275
LYM019 Lymphosarcoma 46 0.041
276
CNT025 Central Pontine Myelinolysis 46 0.041
277
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44 0.041
278
CLN044 Colon Adenoma 44 0.041
279
CRB090 Cerebral Hypoxia 44 0.041
280
VSL013 Visual Impairment and Progressive Phthisis Bulbi 41 0.041
281
SKN020 Skin Papilloma 39 0.041
282
WLL004 Wallerian Degeneration 39 0.041
283
BTN004 Biotin Deficiency 38 0.041
284
SPS019 Spastic Paraparesis 38 0.041
285
BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 38 0.041
286
CRT012 Cortical Blindness 37 0.041
287
ARG004 Argyria 27 0.041
288
MSN003 Mesenteric Vascular Occlusion 27 0.041
289
SCC002 Saccharopinuria 24 0.041
290
AMN012 Aminoacidopathies 21 0.041
292
P INB001 Inborn Amino Acid Metabolism Disorder 10 0.041
293
P OVR042 Ovarian Cancer 88 0.029
295
PFF001 Pfeiffer Syndrome 79 0.029
296
P LNG064 Lung Cancer Susceptibility 3 78 0.029
297
P MDL005 Medulloblastoma 77 0.029
298
CRV035 Cervical Cancer 76 0.029
299
P RSP003 Respiratory Failure 74 0.029
300
BRN028 Brain Cancer 74 0.029
301
P SCH015 Schizophrenia 74 0.029
302
c MNN043 Meningioma, Familial 74 0.029
303
c HYP836 Hypercholesterolemia, Familial, 1 73 0.029
304
c SPN225 Spondyloarthropathy 1 73 0.029
305
P CNR004 Cone-Rod Dystrophy 2 73 0.029
306
XRD010 Xeroderma Pigmentosum, Variant Type 73 0.029
307
P MLT020 Multiple Sclerosis 72 0.029
308
c HPT073 Hepatitis C Virus 72 0.029
309
WLS001 Wilson Disease 71 0.029
310
P ATS364 Autism 70 0.029
311
LPD012 Lipoid Congenital Adrenal Hyperplasia 70 0.029
312
P MYC007 Myocardial Infarction 70 0.029
313
DFC004 Deficiency Anemia 70 0.029
314
DWN001 Down Syndrome 70 0.029
315
LGH007 Leigh Syndrome 70 0.029
316
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 0.029
317
P MYP004 Myopathy 70 0.029
318
P TBR001 Tuberous Sclerosis 70 0.029
319
PLY001 Polycythemia Vera 69 0.029
320
P MCP040 Mucopolysaccharidosis-Plus Syndrome 69 0.029
321
P MPL001 Maple Syrup Urine Disease 69 0.029
322
P ANG001 Angelman Syndrome 69 0.029
323
P SYS005 Systemic Scleroderma 68 0.029
324
SKN019 Skin Melanoma 68 0.029
325
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68 0.029
326
c HMP004 Hemophilia B 68 0.029
327
CNN005 Connective Tissue Disease 68 0.029
328
BRK010 Burkitt Lymphoma 67 0.029
329
CRB039 Cerebrovascular Disease 67 0.029
330
P HYP098 Hypereosinophilic Syndrome 67 0.029
331
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.029
332
c TYR012 Tyrosinemia, Type I 66 0.029
333
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.029
334
ALC007 Alcohol Dependence 66 0.029
335
ART001 Arterial Tortuosity Syndrome 66 0.029
336
c HRD010 Hereditary Spastic Paraplegia 66 0.029
337
AND002 Androgen Insensitivity Syndrome 66 0.029
338
P HYD006 Hydrocephalus 66 0.029
339
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.029
340
P CNJ013 Conjunctivitis 65 0.029
341
PPL049 Papillon-Lefevre Syndrome 65 0.029
342
P LPS002 Liposarcoma 65 0.029
343
IRR002 Irritable Bowel Syndrome 65 0.029
344
P HRP006 Herpes Simplex 65 0.029
345
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65 0.029
346
c DBT099 Diabetes Mellitus, Type I 65 0.029
347
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.029
348
NRM005 Neuromuscular Disease 64 0.029
349
CLF027 Cleft Palate, Isolated 64 0.029
350
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.029
351
ART002 Arts Syndrome 64 0.029
352
HYP020 Hyperprolactinemia 64 0.029
353
c MCP049 Mucopolysaccharidosis, Type Vii 63 0.029
354
P NTR004 Neutropenia 63 0.029
355
P ANR048 Aniridia 1 63 0.029
356
P VSC007 Vascular Disease 63 0.029
357
c MLG084 Malignant Fibrous Histiocytoma 63 0.029
358
P CRG003 Crigler-Najjar Syndrome, Type I 63 0.029
359
ANR007 Anorexia Nervosa 63 0.029
360
DPR016 Depression 63 0.029
361
RHB001 Rhabdoid Cancer 63 0.029
362
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.029
363
c FNC043 Fanconi Anemia, Complementation Group E 62 0.029
364
P TRC086 Trichohepatoenteric Syndrome 1 62 0.029
365
P VSC011 Vasculitis 62 0.029
366
ATM095 Autoimmune Disease 62 0.029
367
P ACR001 Aicardi-Goutieres Syndrome 62 0.029
368
TXC005 Toxic Shock Syndrome 62 0.029
369
BLD131 Bladder Urothelial Carcinoma 62 0.029
370
DRM006 Dermatitis 61 0.029
371
c SCL052 Scleroderma, Familial Progressive 61 0.029
372
P ENC004 Encephalitis 61 0.029
373
ALC006 Alcoholic Hepatitis 61 0.029
374
P HMN010 Hemangioma 61 0.029
375
DCB001 Decubitus Ulcer 61 0.029
376
P KDN017 Kidney Cancer 60 0.029
377
SPN186 Spinal Cord Injury 60 0.029
378
SHG001 Shigellosis 60 0.029
379
P TXP001 Toxoplasmosis 60 0.029
380
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.029
381
ACN002 Acanthosis Nigricans 60 0.029
382
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.029
383
INS001 Insulinoma 60 0.029
384
c ACT071 Acute Kidney Failure 60 0.029
385
SPP011 Suppression of Tumorigenicity 12 59 0.029
386
P AXN002 Axenfeld-Rieger Syndrome 59 0.029
387
P MCR010 Microcephaly 59 0.029
388
P LYM033 Lymphoproliferative Syndrome 59 0.029
389
c LTN004 Late-Onset Retinal Degeneration 59 0.029
390
P BRS044 Breast Adenocarcinoma 59 0.029
391
SRC027 Sarcoma, Synovial 58 0.029
392
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.029
393
CSY001 C Syndrome 58 0.029
394
ANT024 Anthrax Disease 58 0.029
395
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.029
396
CCC001 Coccidioidomycosis 58 0.029
397
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.029
398
BRS051 Breast Disease 58 0.029
399
ADR005 Adrenal Carcinoma 58 0.029
400
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.029
401
MNT002 Mental Depression 58 0.029
402
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 0.029
403
P CND004 Candidiasis 58 0.029
404
P PRP019 Peripheral Nervous System Disease 58 0.029
405
CHR081 Choroideremia 57 0.029
406
P PLV020 Pelvic Organ Prolapse 57 0.029
407
c CHL119 Cholangitis, Primary Sclerosing 57 0.029
408
P HDC001 Headache 57 0.029
409
THR024 Thrombosis 57 0.029
410
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.029
411
P CTR177 Citrullinemia, Type Ii, Adult-Onset 57 0.029
412
GLT035 Glutaric Acidemia I 57 0.029
413
SCH014 Schistosomiasis 57 0.029
414
SKN022 Skin Squamous Cell Carcinoma 57 0.029
415
AYM001 Ayme-Gripp Syndrome 57 0.029
416
FRC011 Fructose Intolerance, Hereditary 57 0.029
417
c BSL024 Basal Cell Carcinoma 1 56 0.029
418
P PLY018 Polycythemia 56 0.029
419
LST001 Listeriosis 56 0.029
420
TRN018 Transitional Cell Carcinoma 56 0.029
421
ALL006 Allergic Asthma 56 0.029
422
PLS011 Plasmacytoma 56 0.029
423
BCT022 Bacterial Infectious Disease 56 0.029
424
MTH009 Mouth Disease 56 0.029
425
P LBR014 Leber Congenital Amaurosis 4 56 0.029
426
c MYS033 Miyoshi Muscular Dystrophy 1 56 0.029
427
ANS023 Anus, Imperforate 56 0.029
428
HPT022 Hepatoblastoma 56 0.029
429
MCL006 Macular Retinal Edema 55 0.029
430
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.029
431
AMB001 Amebiasis 55 0.029
432
P MLN007 Male Infertility 55 0.029
433
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 55 0.029
434
P ALP106 Alport Syndrome 1, X-Linked 55 0.029
435
JVN009 Juvenile Pilocytic Astrocytoma 55 0.029
436
CLF004 Cleft Lip/palate 54 0.029
437
AMN003 Amnestic Disorder 54 0.029
438
PRT038 Protein-Energy Malnutrition 54 0.029
439
THR013 Thoracic Outlet Syndrome 54 0.029
440
ANL018 Analbuminemia 54 0.029
441
c PST005 Posterior Uveitis 54 0.029
442
MYM001 Myoma 54 0.029
443
CRB150 Cerebral Creatine Deficiency Syndrome 2 53 0.029
444
P SHR001 Short Bowel Syndrome 53 0.029
445
CLF001 Cleft Lip 53 0.029
446
GTR002 Goiter 53 0.029
447
P ACT008 Actinic Keratosis 53 0.029
448
P INT068 Intestinal Disease 53 0.029
449
c MCR113 Microvascular Complications of Diabetes 3 52 0.029
450
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.029
451
c NGH026 Night Blindness, Congenital Stationary, Type 1a 52 0.029
452
BTT001 Bietti Crystalline Corneoretinal Dystrophy 52 0.029
453
TRC096 Trichothiodystrophy 52 0.029
454
P DDN001 Duodenal Ulcer 52 0.029
455
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.029
456
PPT001 Peptic Esophagitis 52 0.029
457
APR001 Apraxia 52 0.029
458
PRL019 Prolidase Deficiency 52 0.029
459
PNG002 Pain Agnosia 51 0.029
460
SPS003 Spastic Diplegia 51 0.029
461
P HMP007 Hemophilia 51 0.029
462
THR004 Thrombocytosis 51 0.029
463
MTH078 Methylmalonic Aciduria, Cblb Type 51 0.029
464
CLR109 Colorectal Adenocarcinoma 51 0.029
465
ACT049 Acute Disseminated Encephalomyelitis 51 0.029
466
HND002 Hand, Foot and Mouth Disease 51 0.029
467
P RNL007 Renal Tubular Acidosis 51 0.029
468
END086 End Stage Renal Disease 51 0.029
469
CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 51 0.029
470
CRV040 Cervix Carcinoma 51 0.029
471
P CHL066 Cholangitis 51 0.029
472
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.029
473
EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 51 0.029
474
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.029
475
P FNC004 Fanconi Syndrome 50 0.029
476
P OVR082 Overgrowth Syndrome 50 0.029
477
SPN021 Spinal Meningioma 50 0.029
478
P OBS001 Obstructive Jaundice 50 0.029
479
MTB004 Metabolic Acidosis 50 0.029
480
c LRG001 Large Cell Carcinoma 50 0.029
481
P MTH008 Methylmalonic Acidemia 50 0.029
482
HYP017 Hypophosphatemia 50 0.029
483
PPL021 Papilledema 49 0.029
484
VLV047 Volvulus of Midgut 49 0.029
485
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.029
486
P OPN001 Open-Angle Glaucoma 49 0.029
487
SLD003 Sialadenitis 49 0.029
488
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 49 0.029
489
MTC005 Mitochondrial Metabolism Disease 49 0.029
490
DDN006 Duodenitis 49 0.029
491
P ALP061 Alopecia, Androgenetic, 1 49 0.029
492
LRN003 Learning Disability 49 0.029
493
P SCL009 Sclerosing Cholangitis 48 0.029
494
GNG008 Ganglioneuroblastoma 48 0.029
495
HYP025 Hyperphosphatemia 48 0.029
496
P MRC003 Mercury Poisoning 48 0.029
497
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47 0.029
498
PPL002 Papillary Carcinoma 47 0.029
499
ADN001 Adenosine Deaminase Deficiency 47 0.029
500
THY128 Thyroid Tumor 47 0.029
501
CLN019 Colonic Disease 47 0.029
502
P BLR006 Biliary Tract Disease 47 0.029
503
c MCR120 Microvascular Complications of Diabetes 7 47 0.029
504
LYM009 Lymphocytic Choriomeningitis 47 0.029
505
KHN001 Kuhnt-Junius Degeneration 47 0.029
506
TTR011 Tetraploidy 47 0.029
507
P KRN004 Kernicterus 47 0.029
508
MCL009 Mcleod Syndrome 46 0.029
509
P VTR007 Vitreoretinopathy 46 0.029
510
c CRV002 Cervix Uteri Carcinoma in Situ 46 0.029
511
MTS001 Mutism 46 0.029
512
FCL012 Facial Paralysis 46 0.029
513
AND014 Androgenic Alopecia 46 0.029
514
CHD004 Chudley-Mccullough Syndrome 46 0.029
515
P BNG032 Benign Mesothelioma 46 0.029
516
CHR008 Choroiditis 46 0.029
517
P HMR005 Hemorrhoid 46 0.029
518
c MCR261 Microphthalmia, Syndromic 2 46 0.029
519
SVN002 Sveinsson Chorioretinal Atrophy 46 0.029
520
MXD026 Mixed Glioma 45 0.029
521
MLK003 Melkersson-Rosenthal Syndrome 45 0.029
522
URL001 Urolithiasis 45 0.029
523
MLT018 Multiple Carboxylase Deficiency 45 0.029
524
c SPR009 Sporadic Breast Cancer 45 0.029
525
GRD001 Giardiasis 45 0.029
526
SPS057 Spasticity 45 0.029
527
c PCH010 Pachyonychia Congenita 3 44 0.029
528
DWR001 Dwarfism 44 0.029
529
HPT067 Hepatocellular Adenoma 44 0.029
530
PPL001 Papillary Adenoma 44 0.029
531
P EPN001 Ependymoblastoma 44 0.029
532
HPT082 Hepatic Adenomas, Familial 44 0.029
533
ATR013 Atrichia with Papular Lesions 44 0.029
534
MND023 Mend Syndrome 43 0.029
535
GLL017 Gallbladder Adenocarcinoma 43 0.029
536
ENC005 Encephalomalacia 43 0.029
537
P HYP347 Hypotonia-Cystinuria Syndrome 43 0.029
538
MDD018 Middle East Respiratory Syndrome 43 0.029
539
ORL015 Oral Squamous Cell Carcinoma 43 0.029
540
P HRD018 Hair Disease 43 0.029
541
HMP009 Haemophilus Influenzae 43 0.029
542
MST004 Mast Cell Neoplasm 42 0.029
543
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.029
544
FSC002 Fascioliasis 42 0.029
545
c ATS307 Autosomal Recessive Cerebellar Ataxia 42 0.029
546
ANC002 Anca-Associated Vasculitis 41 0.029
547
c MCR130 Microvascular Complications of Diabetes 6 41 0.029
548
c MCR133 Microvascular Complications of Diabetes 4 41 0.029
549
KLB003 Klebsiella Pneumonia 41 0.029
550
SCR001 Secretory Meningioma 41 0.029
551
P FNC034 Fanconi Renotubular Syndrome 2 40 0.029
552
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40 0.029
553
EXT006 Extrahepatic Cholestasis 39 0.029
554
LKP003 Leukoplakia 39 0.029
555
FLL031 Follicular Adenoma 39 0.029
556
CTN004 Cutaneous Fibrous Histiocytoma 39 0.029
557
CRV045 Cervical Intraepithelial Neoplasia 39 0.029
558
ENT001 Enterocele 39 0.029
559
ORL012 Oral Leukoplakia 39 0.029
560
TNP004 Tn Polyagglutination Syndrome 39 0.029
561
ADP007 Adie Pupil 39 0.029
562
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.029
563
EXT007 Extracutaneous Mastocytoma 38 0.029
564
c ATS392 Autosomal Recessive Cutis Laxa Type Iii 38 0.029
565
c CTS041 Cutis Laxa, Autosomal Dominant 3 38 0.029
566
CHL073 Cholestasis-Lymphedema Syndrome 38 0.029
567
HPT070 Hepatosplenic T-Cell Lymphoma 38 0.029
568
OST006 Osteoblastoma 38 0.029
569
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.029
570
CRT055 Creatine Deficiency Syndromes 38 0.029
571
CRB009 Cerebritis 37 0.029
572
DDN027 Duodenum Disease 37 0.029
573
MLT028 Multiminicore Disease 37 0.029
574
HMM004 Hamamy Syndrome 37 0.029
575
P AXN001 Axonal Neuropathy 36 0.029
576
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.029
577
HYP114 Hypertensive Nephropathy 36 0.029
578
c FML053 Familial Colorectal Cancer 35 0.029
579
ATX010 Ataxia Neuropathy Spectrum 34 0.029
580
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 34 0.029
581
BRN041 Bornholm Eye Disease 34 0.029
582
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33 0.029
583
ALR002 Al-Raqad Syndrome 33 0.029
584
PRS064 Persistent Vegetative State 33 0.029
585
ACT064 Acute Necrotizing Encephalitis 33 0.029
586
c PRS136 Prostate Cancer, Hereditary, 6 33 0.029
587
MCR119 Microtia, Hearing Impairment, and Cleft Palate 33 0.029
588
BWN006 Bowen's Disease 32 0.029
589
c PRS130 Prostate Cancer, Hereditary, 8 32 0.029
590
TQP001 Taqi Polymorphism 32 0.029
591
TRG019 Trigonocephaly with Short Stature and Developmental Delay 32 0.029
592
PST103 Postpartum Psychosis 32 0.029
593
GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 32 0.029
594
c DNT047 Dentinogenesis Imperfecta Type 2 31 0.029
595
PLR005 Pleuropneumonia 31 0.029
596
5XP001 5-Oxoprolinase Deficiency 31 0.029
597
CLF051 Cleft Larynx, Posterior 30 0.029
598
PYR016 Pyridoxine Deficiency 30 0.029
599
TRN004 Trench Fever 29 0.029
600
MYC088 Mycobacterium Avium Complex Infections 29 0.029
601
FTL007 Fetal Hydantoin Syndrome 29 0.029
602
ISL099 Isolated Methylmalonic Acidemia 29 0.029
603
PST092 Posttransplant Acute Limbic Encephalitis 29 0.029
604
BPH002 Biphasic Synovial Sarcoma 29 0.029
605
DFF012 Differentiating Neuroblastoma 28 0.029
606
HNM002 Hinman Syndrome 27 0.029
607
LRY026 Laryngeal Cleft 27 0.029
608
PYR035 Pyrimidine Metabolic Disorder 26 0.029
609
PSD078 Pseudofolliculitis Barbae 25 0.029
610
HRP008 Herpes Simiae 25 0.029
611
BRS045 Breast Adenoma 25 0.029
612
c DMN005 Diamond-Blackfan Anemia 2 25 0.029
613
c RNG021 Ring Chromosome 5 23 0.029
614
P HRM021 Hair Morphology 2 22 0.029
615
BLD165 Blood Group, Colton System 20 0.029
616
P CMP101 Complex Hereditary Spastic Paraplegia 20 0.029
617
CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 20 0.029
618
AND005 Androgen Insensitivity Syndrome, Mild 19 0.029
619
XLN215 X-Linked Congenital Generalized Hypertrichosis 17 0.029
620
BLD137 Blood Group--Ahonen 16 0.029
621
ANT040 Anton's Syndrome 16 0.029
622
DMN042 Diaminopentanuria 14 0.029
623
SRN003 Seronegative Autoimmune Hepatitis 12 0.029
624
CTR030 Citrulline Transport Defect 9 0.029
625
P PRR040 Pure or Complex Hereditary Spastic Paraplegia 9 0.029
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