Search results for Ornithine

621 hits were found for Ornithine

# Family MCID Name MIFTS Score
1
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 60 12.767
2
GYR004 Gyrate Atrophy of Choroid and Retina 52 9.561
3
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 52 7.105
4
DSR020 Disorder of Ornithine Metabolism 9 3.308
5
URC002 Urea Cycle Disorder 51 2.668
6
DSR067 Disorder of Ornithine or Proline Metabolism 3 2.339
7
GLB028 Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome 7 2.281
8
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56 0.492
9
P ENC018 Encephalopathy 64 0.341
10
HPT019 Hepatic Encephalopathy 60 0.286
11
HPT004 Hepatic Coma 42 0.283
12
OCL069 Ocular Motor Apraxia 53 0.273
13
LVR012 Liver Cirrhosis 67 0.217
14
P LVR013 Liver Disease 71 0.211
15
ORN004 Ornithinemia 17 0.211
16
P CLR023 Colorectal Cancer 100 0.205
17
P NRB010 Neuroblastoma 1 66 0.178
18
ORT008 Orotic Aciduria 51 0.173
19
ADN018 Adenoma 60 0.152
20
c ACT134 Acute Liver Failure 53 0.146
21
P BRS047 Breast Cancer 99 0.140
22
RYS001 Reye Syndrome 49 0.140
23
c INH020 Inherited Metabolic Disorder 51 0.137
24
SLP001 Sleeping Sickness 47 0.134
25
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.131
26
PPL022 Papilloma 56 0.131
27
P ADN016 Adenocarcinoma 65 0.127
28
P GLM045 Glioma 64 0.127
29
CHL014 Cholera 58 0.127
30
BRN004 Brain Edema 57 0.127
31
SQM002 Squamous Cell Papilloma 49 0.127
32
HLX001 Helix Syndrome 46 0.127
33
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.117
34
P GST053 Gastric Cancer 85 0.113
35
ATX038 Ataxia and Polyneuropathy, Adult-Onset 51 0.113
36
GLL048 Glial Tumor 48 0.109
37
P HYP265 Hypotonia 43 0.109
38
TRY004 Trypanosomiasis, Human East-African 25 0.109
39
P SKN015 Skin Carcinoma 67 0.105
40
HYP266 Hypoxia 58 0.105
41
P RTN016 Retinal Degeneration 56 0.105
42
ATS010 Autosomal Recessive Disease 49 0.105
43
P HPT023 Hepatocellular Carcinoma 99 0.101
44
PRT037 Pertussis 66 0.101
45
ERY051 Erythroleukemia, Familial 58 0.101
46
P HPT021 Hepatitis 69 0.097
47
P LKM002 Leukemia 69 0.097
48
CLR108 Colorectal Adenoma 64 0.097
49
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.097
50
P GST044 Gastritis 58 0.097
51
TRY001 Trypanosomiasis 50 0.097
52
P PRS040 Prostate Cancer 97 0.092
53
P PHC003 Pheochromocytoma 71 0.092
54
LSH001 Leishmaniasis 64 0.092
55
CTR172 Citrullinemia, Classic 62 0.092
56
ADR040 Adrenal Gland Pheochromocytoma 51 0.092
57
P KLZ004 Kala-Azar 1 43 0.092
58
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 82 0.088
59
P FML011 Familial Adenomatous Polyposis 73 0.088
60
HYP056 Hypoglycemia 68 0.088
61
ISC004 Ischemia 62 0.088
62
SQM006 Squamous Cell Carcinoma 60 0.088
63
ARG007 Argininemia 55 0.088
64
P HYP076 Hyperthyroidism 55 0.088
65
LYS003 Lysinuric Protein Intolerance 54 0.088
66
c INF145 Infantile Liver Failure Syndrome 1 50 0.088
67
48X005 48,xyyy 37 0.088
68
P LNG032 Lung Cancer 99 0.083
69
P RTN008 Retinitis Pigmentosa 77 0.083
70
P RTN024 Retinoblastoma 74 0.083
71
P THR014 Thrombocytopenia 67 0.083
72
CYS013 Cystinuria 66 0.083
73
CLN015 Colon Adenocarcinoma 65 0.083
74
TRN015 Transient Cerebral Ischemia 62 0.083
75
P ATR005 Atrophic Gastritis 49 0.083
76
RTN023 Retinitis 46 0.083
77
NRR001 Neuroretinitis 46 0.083
78
c FML008 Familial Retinoblastoma 46 0.083
79
ESP021 Esophageal Cancer 90 0.077
80
P PNC035 Pancreatic Cancer 86 0.077
81
P BLD134 Bladder Cancer 79 0.077
82
GLB002 Glioblastoma 74 0.077
83
BRR014 Barrett Esophagus 67 0.077
84
c ATM011 Autoimmune Hepatitis 63 0.077
85
FTT001 Fatty Liver Disease 63 0.077
86
PRT013 Portal Hypertension 61 0.077
87
P PNC044 Pancreatitis 61 0.077
88
GLB015 Glioblastoma Multiforme 60 0.077
89
c ACT027 Acute Pancreatitis 60 0.077
90
P FBR017 Fibrosarcoma 57 0.077
91
c VRL010 Viral Hepatitis 56 0.077
92
P DRR001 Diarrhea 55 0.077
93
SBC016 Subacute Delirium 43 0.077
94
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.077
95
P ALZ034 Alzheimer Disease 90 0.072
96
ULC004 Ulcerative Colitis 75 0.072
97
CHG001 Chagas Disease 66 0.072
98
P PSR002 Psoriasis 63 0.072
99
P SZR006 Seizure Disorder 59 0.072
100
VSL002 Visual Epilepsy 58 0.072
101
VSC003 Visceral Leishmaniasis 55 0.072
102
PST011 Pustulosis of Palm and Sole 51 0.072
103
P CRB088 Cerebral Atrophy 43 0.072
104
P BLD124 Bleeding Disorder, Platelet-Type, 11 66 0.065
105
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 65 0.065
106
c HPT016 Hepatitis B 63 0.065
107
PRP001 Propionic Acidemia 63 0.065
108
HYP066 Hyperglycemia 63 0.065
109
c HPT001 Hepatitis C 62 0.065
110
NTR005 Nutritional Deficiency Disease 61 0.065
111
ARG002 Argininosuccinic Aciduria 59 0.065
112
P MYP006 Myopia 58 0.065
113
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 58 0.065
114
INT075 Intracranial Hypertension 54 0.065
115
NNL006 Non-Alcoholic Steatohepatitis 53 0.065
116
KRT002 Keratomalacia 47 0.065
117
CYT002 Cytokine Deficiency 46 0.065
118
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 46 0.065
119
KDN013 Kidney Hypertrophy 27 0.065
120
c HYP595 Hypertension, Essential 87 0.058
121
MLR004 Malaria 82 0.058
122
STR067 Stroke, Ischemic 82 0.058
123
CRH001 Crohn's Disease 75 0.058
124
P HYP086 Hypothyroidism 70 0.058
125
SRC014 Sarcoma 67 0.058
126
OST159 Osteogenic Sarcoma 67 0.058
127
PRT036 Peritonitis 66 0.058
128
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.058
129
P PRS038 Personality Disorder 66 0.058
130
NRR002 Norrie Disease 63 0.058
131
RTN017 Retinal Detachment 62 0.058
132
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.058
133
CRC021 Carcinosarcoma 62 0.058
134
P CTR002 Cataract 62 0.058
135
EYD002 Eye Disease 59 0.058
136
AGN016 Aging 58 0.058
137
P MTC069 Mitochondrial Disorders 57 0.058
138
P NRP001 Neuropathy 57 0.058
139
SPN035 Spindle Cell Sarcoma 57 0.058
140
P LYM031 Lymphocytic Leukemia 56 0.058
141
HYP060 Hyperinsulinism 55 0.058
142
HYP005 Hypokalemia 55 0.058
143
P TRM003 Tremor 55 0.058
144
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 55 0.058
145
TRM010 Traumatic Brain Injury 54 0.058
146
HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53 0.058
147
CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51 0.058
148
BRN071 Brain Injury 51 0.058
149
HDN002 Head Injury 47 0.058
150
AMN002 Amino Acid Metabolic Disorder 42 0.058
151
P HYP769 Hyperlysinemia, Type I 38 0.058
152
EPD052 Epidermolysis Bullosa Simplex Superficialis 24 0.058
153
c SYS001 Systemic Lupus Erythematosus 88 0.051
154
P ATX030 Ataxia-Telangiectasia 83 0.051
155
P RTT002 Rett Syndrome 81 0.051
156
INS024 Insulin-Like Growth Factor I 79 0.051
157
c HMC039 Hemochromatosis, Type 1 73 0.051
158
MSC157 Muscular Dystrophy, Duchenne Type 70 0.051
159
P LYM118 Lymphoma 70 0.051
160
P PLM037 Pulmonary Hypertension 69 0.051
161
CRB037 Cerebral Palsy 69 0.051
162
P CHR012 Chronic Granulomatous Disease 69 0.051
163
PNC129 Pancreatic Adenocarcinoma 69 0.051
164
P MSC005 Muscular Dystrophy 68 0.051
165
c SML038 Small Cell Cancer of the Lung 67 0.051
166
GST040 Gastric Adenocarcinoma 67 0.051
167
MSC007 Muscle Hypertrophy 65 0.051
168
MNN042 Meningioma, Radiation-Induced 64 0.051
169
SKN016 Skin Disease 64 0.051
170
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 63 0.051
171
LNG099 Lung Disease 62 0.051
172
TTN003 Tetanus 62 0.051
173
ORL011 Oral Cancer 62 0.051
174
HLC007 Helicobacter Pylori Infection 61 0.051
175
DPH001 Diphtheria 61 0.051
176
FBR086 Fibrolamellar Carcinoma 60 0.051
177
GST045 Gastroenteritis 60 0.051
178
CNS004 Constipation 59 0.051
179
P GLM007 Glomerulonephritis 58 0.051
180
P ALP008 Alopecia 58 0.051
181
IRN002 Iron Metabolism Disease 58 0.051
182
c SVR001 Severe Acute Respiratory Syndrome 56 0.051
183
ACT058 Active Peptic Ulcer Disease 55 0.051
184
PRS045 Prostatic Hypertrophy 55 0.051
185
P INS002 in Situ Carcinoma 55 0.051
186
P RCT021 Rectum Cancer 54 0.051
187
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 54 0.051
188
TXC002 Toxic Encephalopathy 54 0.051
189
GST023 Gastric Ulcer 53 0.051
190
PRS021 Prostatic Adenoma 52 0.051
191
P AST007 Astrocytoma 52 0.051
192
PRS129 Prostatic Hyperplasia, Benign 49 0.051
193
c MLG068 Malignant Glioma 46 0.051
194
c PRM038 Primary Agammaglobulinemia 45 0.051
195
ANX004 Anoxia 44 0.051
196
CRT015 Carotid Artery Occlusion 44 0.051
197
DRG002 Drug-Induced Hepatitis 41 0.051
198
CHL045 Choline Deficiency Disease 39 0.051
199
CRB004 Cerebral Artery Occlusion 38 0.051
200
HRW001 Hair Whorl 36 0.051
201
ACR005 Acrodermatitis 35 0.051
202
TRD008 Triiodothyronine Receptor Auxiliary Protein 35 0.051
203
c JVN024 Juvenile Hereditary Hemochromatosis 32 0.051
204
ENT007 Enteropathica 27 0.051
205
CHL079 Children's Interstitial Lung Disease 27 0.051
206
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 0.051
207
MYL069 Myeloma, Multiple 85 0.041
208
CYS001 Cystic Fibrosis 84 0.041
209
c LKM071 Leukemia, Chronic Lymphocytic 81 0.041
210
PLM134 Pulmonary Fibrosis, Idiopathic 77 0.041
211
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.041
212
END057 Endometrial Cancer 74 0.041
213
ACR006 Aceruloplasminemia 74 0.041
214
P EPL164 Epilepsy 73 0.041
215
PHN003 Phenylketonuria 73 0.041
216
P KDN018 Kidney Disease 73 0.041
217
P HNT016 Huntington Disease 72 0.041
218
PLM001 Pulmonary Tuberculosis 72 0.041
219
c FML346 Familial Adenomatous Polyposis 1 71 0.041
220
c MGR028 Migraine with or Without Aura 1 70 0.041
221
MLN008 Melanoma 68 0.041
222
c BSL007 Basal Cell Carcinoma 68 0.041
223
P ASP006 Aspergillosis 67 0.041
224
P DBT009 Diabetes Mellitus 66 0.041
225
P PLM036 Pulmonary Fibrosis 66 0.041
226
P TRN020 Turner Syndrome 66 0.041
227
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.041
228
ALL026 Allergic Hypersensitivity Disease 65 0.041
229
IDP011 Idiopathic Interstitial Pneumonia 65 0.041
230
DPR016 Depression 64 0.041
231
c RHB024 Rhabdomyosarcoma 2 64 0.041
232
END041 Endometrial Adenocarcinoma 64 0.041
233
LWC002 Lowe Oculocerebrorenal Syndrome 63 0.041
234
c WLM018 Wilms Tumor 5 63 0.041
235
CLT003 Colitis 63 0.041
236
SPN186 Spinal Cord Injury 63 0.041
237
P RHB003 Rhabdomyosarcoma 62 0.041
238
ADL002 Adult Syndrome 62 0.041
239
P ESP024 Esophagitis 62 0.041
240
THY029 Thyroid Carcinoma 62 0.041
241
CHL068 Cholestasis 61 0.041
242
STT001 Status Epilepticus 61 0.041
243
P MYL006 Myeloid Leukemia 61 0.041
244
CHL067 Cholecystitis 60 0.041
245
P INF032 Infertility 60 0.041
246
GRD007 Grade Iii Astrocytoma 59 0.041
247
P EXN002 Exanthem 58 0.041
248
DSS009 Disseminated Intravascular Coagulation 58 0.041
249
P FTT008 Fatty Liver Disease, Nonalcoholic 1 58 0.041
250
P PYL005 Pyelonephritis 58 0.041
251
BLR008 Bilirubin Metabolic Disorder 58 0.041
252
ALK013 Alkaptonuria 57 0.041
253
P INF037 Inflammatory Bowel Disease 57 0.041
254
PRM236 Primary Biliary Cholangitis 57 0.041
255
EMB004 Embryonal Carcinoma 57 0.041
256
GLL018 Gallbladder Cancer 57 0.041
257
GLS001 Gliosarcoma 56 0.041
258
HMP005 Hemiplegia 55 0.041
259
P PRM006 Primary Biliary Cirrhosis 54 0.041
260
PRP016 Paraplegia 54 0.041
261
SPP010 Suppressor of Tumorigenicity 3 54 0.041
262
TLN003 Telangiectasis 53 0.041
263
P RTN018 Retinal Disease 53 0.041
264
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.041
265
CHR073 Choreatic Disease 52 0.041
266
P HMC002 Homocystinuria 52 0.041
267
P LCT001 Lactic Acidosis 52 0.041
268
KRT009 Keratosis 52 0.041
269
STM007 Stomatitis 51 0.041
270
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.041
271
VCC001 Vaccinia 50 0.041
272
47X002 47,xyy 49 0.041
273
SKN013 Skin Benign Neoplasm 49 0.041
274
HPT014 Hepatorenal Syndrome 49 0.041
275
c INV001 Invasive Aspergillosis 48 0.041
276
LYM019 Lymphosarcoma 48 0.041
277
CNT025 Central Pontine Myelinolysis 45 0.041
278
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 45 0.041
279
CRB090 Cerebral Hypoxia 45 0.041
280
VLP002 Valproate Embryopathy 45 0.041
281
ORG002 Organic Acidemia 43 0.041
282
CLN044 Colon Adenoma 41 0.041
283
SPS019 Spastic Paraparesis 40 0.041
284
WLL004 Wallerian Degeneration 40 0.041
285
BTN004 Biotin Deficiency 38 0.041
286
CRT012 Cortical Blindness 37 0.041
287
c LKM004 Leukemia, B-Cell, Chronic 35 0.041
288
MSN003 Mesenteric Vascular Occlusion 33 0.041
289
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31 0.041
290
SKN020 Skin Papilloma 31 0.041
291
ARG004 Argyria 28 0.041
292
SCC002 Saccharopinuria 24 0.041
294
AMN012 Aminoacidopathies 22 0.041
295
P INB001 Inborn Amino Acid Metabolism Disorder 11 0.041
296
P OVR042 Ovarian Cancer 89 0.029
298
PFF001 Pfeiffer Syndrome 79 0.029
299
P LNG064 Lung Cancer Susceptibility 3 79 0.029
300
P MDL005 Medulloblastoma 78 0.029
301
CRV035 Cervical Cancer 77 0.029
302
DFC004 Deficiency Anemia 77 0.029
303
P SCH015 Schizophrenia 76 0.029
304
P RSP003 Respiratory Failure 75 0.029
305
BRN028 Brain Cancer 75 0.029
306
P MYC007 Myocardial Infarction 74 0.029
307
c HPT073 Hepatitis C Virus 74 0.029
308
c MNN043 Meningioma, Familial 74 0.029
309
c HYP836 Hypercholesterolemia, Familial, 1 74 0.029
310
c LKM063 Leukemia, Chronic Myeloid 74 0.029
311
c SPN225 Spondyloarthropathy 1 74 0.029
312
P MLT020 Multiple Sclerosis 73 0.029
313
XRD010 Xeroderma Pigmentosum, Variant Type 72 0.029
314
P TBR001 Tuberous Sclerosis 72 0.029
315
P CNR004 Cone-Rod Dystrophy 2 72 0.029
316
LPD012 Lipoid Congenital Adrenal Hyperplasia 71 0.029
317
CRB039 Cerebrovascular Disease 71 0.029
318
PLY001 Polycythemia Vera 70 0.029
319
DWN001 Down Syndrome 70 0.029
320
WLS001 Wilson Disease 69 0.029
321
LGH007 Leigh Syndrome 69 0.029
322
P ATS364 Autism 68 0.029
323
P DBT085 Diabetes Mellitus, Insulin-Dependent 68 0.029
324
P SYS005 Systemic Scleroderma 68 0.029
325
c CHR684 Chronic Kidney Disease 68 0.029
326
P HYD006 Hydrocephalus 68 0.029
327
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68 0.029
328
ALC007 Alcohol Dependence 68 0.029
329
CNN005 Connective Tissue Disease 68 0.029
330
BRK010 Burkitt Lymphoma 68 0.029
331
P GLM040 Glioma Susceptibility 1 68 0.029
332
c HRD010 Hereditary Spastic Paraplegia 67 0.029
333
P HYP098 Hypereosinophilic Syndrome 67 0.029
334
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 67 0.029
335
P CNJ013 Conjunctivitis 67 0.029
336
CLF027 Cleft Palate, Isolated 67 0.029
337
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 67 0.029
338
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.029
339
c HMP004 Hemophilia B 66 0.029
340
AND002 Androgen Insensitivity Syndrome 66 0.029
341
P HRP006 Herpes Simplex 66 0.029
342
P VSC007 Vascular Disease 65 0.029
343
P ANG001 Angelman Syndrome 65 0.029
344
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65 0.029
345
IRR002 Irritable Bowel Syndrome 65 0.029
346
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.029
347
P PRP019 Peripheral Nervous System Disease 64 0.029
348
ANR007 Anorexia Nervosa 64 0.029
349
P VSC011 Vasculitis 64 0.029
350
HTC003 Hutchinson-Gilford Progeria Syndrome 64 0.029
351
c FNC043 Fanconi Anemia, Complementation Group E 64 0.029
352
P TRC102 Trichothiodystrophy 1, Photosensitive 64 0.029
353
P ENC004 Encephalitis 64 0.029
354
P NTR004 Neutropenia 64 0.029
355
P ANR048 Aniridia 1 64 0.029
356
DRM006 Dermatitis 63 0.029
357
ART002 Arts Syndrome 63 0.029
358
P MYP004 Myopathy 63 0.029
359
PPL049 Papillon-Lefevre Syndrome 63 0.029
360
P ACR001 Aicardi-Goutieres Syndrome 63 0.029
361
TXC005 Toxic Shock Syndrome 63 0.029
362
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 63 0.029
363
HYP020 Hyperprolactinemia 62 0.029
364
BLD131 Bladder Urothelial Carcinoma 62 0.029
365
P LPS004 Lupus Erythematosus 62 0.029
366
P HMN010 Hemangioma 62 0.029
367
P LPS002 Liposarcoma 62 0.029
368
NRM005 Neuromuscular Disease 62 0.029
369
P LYM033 Lymphoproliferative Syndrome 62 0.029
370
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 62 0.029
371
P MCP040 Mucopolysaccharidosis-Plus Syndrome 62 0.029
372
ACN002 Acanthosis Nigricans 62 0.029
373
c SCL052 Scleroderma, Familial Progressive 62 0.029
374
RHB001 Rhabdoid Cancer 62 0.029
375
ATM095 Autoimmune Disease 62 0.029
376
P CRG003 Crigler-Najjar Syndrome, Type I 61 0.029
377
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 61 0.029
378
P PLV020 Pelvic Organ Prolapse 61 0.029
379
P TXP001 Toxoplasmosis 61 0.029
380
VTR013 Vitreoretinopathy, Neovascular Inflammatory 61 0.029
381
P CND004 Candidiasis 61 0.029
382
SPP011 Suppression of Tumorigenicity 12 61 0.029
383
ART001 Arterial Tortuosity Syndrome 60 0.029
384
c ACT071 Acute Kidney Failure 60 0.029
385
ALC006 Alcoholic Hepatitis 60 0.029
386
MNT002 Mental Depression 60 0.029
387
P KDN017 Kidney Cancer 60 0.029
388
INS001 Insulinoma 60 0.029
389
c MCP049 Mucopolysaccharidosis, Type Vii 60 0.029
390
END030 End Stage Renal Failure 60 0.029
391
SRC027 Sarcoma, Synovial 60 0.029
392
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.029
393
P BRS044 Breast Adenocarcinoma 59 0.029
394
P HDC001 Headache 59 0.029
395
BRS051 Breast Disease 59 0.029
396
c PTT056 Pituitary Adenoma 1, Multiple Types 59 0.029
397
c CHL119 Cholangitis, Primary Sclerosing 59 0.029
398
ADR005 Adrenal Carcinoma 58 0.029
399
P HMP007 Hemophilia 58 0.029
400
P AXN002 Axenfeld-Rieger Syndrome 58 0.029
401
THR024 Thrombosis 58 0.029
402
HPT022 Hepatoblastoma 58 0.029
403
P TRC086 Trichohepatoenteric Syndrome 1 57 0.029
404
PLS011 Plasmacytoma 57 0.029
405
SCH014 Schistosomiasis 57 0.029
406
BCT022 Bacterial Infectious Disease 57 0.029
407
TRN018 Transitional Cell Carcinoma 57 0.029
408
P MLN007 Male Infertility 57 0.029
409
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.029
410
P PLC011 Pilocytic Astrocytoma 57 0.029
411
ANT024 Anthrax Disease 56 0.029
412
RHM027 Rheumatic Disease 56 0.029
413
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.029
414
ALL006 Allergic Asthma 56 0.029
415
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 56 0.029
416
P PLY018 Polycythemia 56 0.029
417
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 56 0.029
418
MTH009 Mouth Disease 56 0.029
419
PRT038 Protein-Energy Malnutrition 56 0.029
420
P INT068 Intestinal Disease 56 0.029
421
c LBR014 Leber Congenital Amaurosis 4 55 0.029
422
c CNG216 Congenital Hydrocephalus 55 0.029
423
P ALP106 Alport Syndrome 1, X-Linked 55 0.029
424
AMN003 Amnestic Disorder 55 0.029
425
c MCR113 Microvascular Complications of Diabetes 3 55 0.029
426
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 55 0.029
427
CLF004 Cleft Lip/palate 55 0.029
428
LST001 Listeriosis 55 0.029
429
CLN019 Colonic Disease 55 0.029
430
DCB001 Decubitus Ulcer 54 0.029
431
CHR081 Choroideremia 54 0.029
432
SHG001 Shigellosis 54 0.029
433
GTR002 Goiter 54 0.029
434
CCC001 Coccidioidomycosis 54 0.029
435
P CHL066 Cholangitis 53 0.029
436
FCL012 Facial Paralysis 53 0.029
437
c LRG017 Large Intestine Cancer 53 0.029
438
c ACR116 Aicardi-Goutieres Syndrome 1 53 0.029
439
CLF001 Cleft Lip 53 0.029
440
SKN022 Skin Squamous Cell Carcinoma 53 0.029
441
SPS003 Spastic Diplegia 53 0.029
442
ISV001 Isovaleric Acidemia 52 0.029
443
c PST005 Posterior Uveitis 52 0.029
444
CRV040 Cervix Carcinoma 52 0.029
445
PNG002 Pain Agnosia 52 0.029
446
THR004 Thrombocytosis 52 0.029
447
MYM001 Myoma 52 0.029
448
P TRT010 Teratoma 52 0.029
449
MCL006 Macular Retinal Edema 52 0.029
450
FRC011 Fructose Intolerance, Hereditary 52 0.029
451
CRB150 Cerebral Creatine Deficiency Syndrome 2 52 0.029
452
HND002 Hand, Foot and Mouth Disease 52 0.029
453
ANS023 Anus, Imperforate 51 0.029
454
LRN003 Learning Disability 51 0.029
455
OVR082 Overgrowth Syndrome 51 0.029
456
P ANL018 Analbuminemia 51 0.029
457
CLR109 Colorectal Adenocarcinoma 51 0.029
458
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51 0.029
459
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 51 0.029
460
SLD003 Sialadenitis 51 0.029
461
P ALP061 Alopecia, Androgenetic, 1 51 0.029
462
P DDN001 Duodenal Ulcer 50 0.029
463
APR001 Apraxia 50 0.029
464
P SHR001 Short Bowel Syndrome 50 0.029
465
MTC005 Mitochondrial Metabolism Disease 50 0.029
466
P OPN001 Open-Angle Glaucoma 50 0.029
467
P MTH008 Methylmalonic Acidemia 50 0.029
468
ACT049 Acute Disseminated Encephalomyelitis 50 0.029
469
MLK003 Melkersson-Rosenthal Syndrome 50 0.029
470
BTT001 Bietti Crystalline Corneoretinal Dystrophy 49 0.029
471
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 49 0.029
472
P BLR006 Biliary Tract Disease 49 0.029
473
CSY001 C Syndrome 49 0.029
474
THY128 Thyroid Tumor 49 0.029
475
c LTN004 Late-Onset Retinal Degeneration 49 0.029
476
P OBS001 Obstructive Jaundice 49 0.029
477
P RNL007 Renal Tubular Acidosis 49 0.029
478
THR013 Thoracic Outlet Syndrome 49 0.029
479
MTB004 Metabolic Acidosis 48 0.029
480
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 48 0.029
481
c MCR120 Microvascular Complications of Diabetes 7 48 0.029
482
P FNC004 Fanconi Syndrome 48 0.029
483
VTR007 Vitreoretinopathy 48 0.029
484
P NGH001 Night Blindness 48 0.029
485
c FML053 Familial Colorectal Cancer 48 0.029
486
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48 0.029
487
HYP017 Hypophosphatemia 48 0.029
488
PPL002 Papillary Carcinoma 47 0.029
489
TTR011 Tetraploidy 47 0.029
490
P KRN004 Kernicterus 47 0.029
491
P SCL009 Sclerosing Cholangitis 47 0.029
492
P HMR005 Hemorrhoid 47 0.029
493
MTH078 Methylmalonic Aciduria, Cblb Type 47 0.029
494
HYP025 Hyperphosphatemia 47 0.029
495
P MRC003 Mercury Poisoning 47 0.029
496
P GLT035 Glutaric Acidemia I 47 0.029
497
PPT001 Peptic Esophagitis 47 0.029
498
c CRV002 Cervix Uteri Carcinoma in Situ 47 0.029
499
GNG008 Ganglioneuroblastoma 47 0.029
500
P BNG032 Benign Mesothelioma 47 0.029
501
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47 0.029
502
c BSL024 Basal Cell Carcinoma 1 47 0.029
503
MCL009 Mcleod Syndrome 47 0.029
504
HMP009 Haemophilus Influenzae 46 0.029
505
ATR013 Atrichia with Papular Lesions 46 0.029
506
c NGH026 Night Blindness, Congenital Stationary, Type 1a 46 0.029
507
PPL021 Papilledema 46 0.029
508
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 46 0.029
509
DWR001 Dwarfism 45 0.029
510
c SPR009 Sporadic Breast Cancer 45 0.029
511
c LRG001 Large Cell Carcinoma 45 0.029
512
KHN001 Kuhnt-Junius Degeneration 45 0.029
513
PRL019 Prolidase Deficiency 44 0.029
514
P CTR177 Citrullinemia, Type Ii, Adult-Onset 44 0.029
515
ORL015 Oral Squamous Cell Carcinoma 44 0.029
516
P HYP347 Hypotonia-Cystinuria Syndrome 44 0.029
517
CHD004 Chudley-Mccullough Syndrome 44 0.029
518
DDN006 Duodenitis 44 0.029
519
AMB001 Amebiasis 44 0.029
520
ADN001 Adenosine Deaminase Deficiency 44 0.029
521
INT052 Intestinal Volvulus 44 0.029
522
FSC002 Fascioliasis 44 0.029
523
c MCR261 Microphthalmia, Syndromic 2 44 0.029
524
ENT001 Enterocele 44 0.029
525
c ATS307 Autosomal Recessive Cerebellar Ataxia 44 0.029
526
c BDY007 Body Mass Index Quantitative Trait Locus 1 43 0.029
527
ANC002 Anca-Associated Vasculitis 43 0.029
528
c PCH010 Pachyonychia Congenita 3 43 0.029
529
MTS001 Mutism 43 0.029
530
FLL031 Follicular Adenoma 43 0.029
531
P HRD018 Hair Disease 43 0.029
532
CTN004 Cutaneous Fibrous Histiocytoma 43 0.029
533
ORL012 Oral Leukoplakia 42 0.029
534
GLL017 Gallbladder Adenocarcinoma 42 0.029
535
c MCR130 Microvascular Complications of Diabetes 6 42 0.029
536
c MCR133 Microvascular Complications of Diabetes 4 42 0.029
537
c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42 0.029
538
GRD001 Giardiasis 42 0.029
539
PPL001 Papillary Adenoma 42 0.029
540
PLR005 Pleuropneumonia 42 0.029
541
MND023 Mend Syndrome 42 0.029
542
AND014 Androgenic Alopecia 41 0.029
543
CRV045 Cervical Intraepithelial Neoplasia 41 0.029
544
BTR002 Beta-Ureidopropionase Deficiency 41 0.029
545
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 41 0.029
546
CHR008 Choroiditis 41 0.029
547
TNP004 Tn Polyagglutination Syndrome 41 0.029
548
CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 41 0.029
549
LKP003 Leukoplakia 40 0.029
550
HPT082 Hepatic Adenomas, Familial 40 0.029
551
OST006 Osteoblastoma 40 0.029
552
MST004 Mast Cell Neoplasm 40 0.029
553
TRN004 Trench Fever 40 0.029
554
SPN021 Spinal Meningioma 40 0.029
555
ADP007 Adie Pupil 40 0.029
556
LYM002 Lymphoplasmacyte-Rich Meningioma 40 0.029
557
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 40 0.029
558
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.029
559
CRT055 Creatine Deficiency Syndromes 39 0.029
560
ATX010 Ataxia Neuropathy Spectrum 39 0.029
561
EXT007 Extracutaneous Mastocytoma 39 0.029
562
EXT006 Extrahepatic Cholestasis 38 0.029
563
SPS057 Spasticity 38 0.029
564
SCR001 Secretory Meningioma 38 0.029
565
ACY011 Acyl-Coa Dehydrogenase Deficiency 38 0.029
566
ENC005 Encephalomalacia 37 0.029
567
DDN027 Duodenum Disease 36 0.029
568
P AXN001 Axonal Neuropathy 36 0.029
569
KLB003 Klebsiella Pneumonia 36 0.029
570
HMM004 Hamamy Syndrome 36 0.029
571
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 36 0.029
572
MXD026 Mixed Glioma 36 0.029
573
HYP114 Hypertensive Nephropathy 36 0.029
574
SVN002 Sveinsson Chorioretinal Atrophy 35 0.029
575
CHL073 Cholestasis-Lymphedema Syndrome 35 0.029
576
BWN006 Bowen's Disease 34 0.029
577
PRS064 Persistent Vegetative State 34 0.029
578
c PRS136 Prostate Cancer, Hereditary, 6 34 0.029
579
c DNT047 Dentinogenesis Imperfecta Type 2 34 0.029
580
TQP001 Taqi Polymorphism 34 0.029
581
BRN041 Bornholm Eye Disease 34 0.029
582
PST103 Postpartum Psychosis 33 0.029
583
c PRS130 Prostate Cancer, Hereditary, 8 33 0.029
584
DFF012 Differentiating Neuroblastoma 32 0.029
585
ALR002 Al-Raqad Syndrome 32 0.029
586
PYR016 Pyridoxine Deficiency 31 0.029
587
TRG019 Trigonocephaly with Short Stature and Developmental Delay 31 0.029
588
CRB009 Cerebritis 31 0.029
589
GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 31 0.029
590
BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 30 0.029
591
MCR119 Microtia, Hearing Impairment, and Cleft Palate 30 0.029
592
MYC088 Mycobacterium Avium Complex Infections 30 0.029
593
ISL099 Isolated Methylmalonic Acidemia 30 0.029
594
5XP001 5-Oxoprolinase Deficiency 30 0.029
595
PST092 Posttransplant Acute Limbic Encephalitis 29 0.029
596
EMB015 Embryonal Tumor with Multilayered Rosettes 29 0.029
597
CLF051 Cleft Larynx, Posterior 29 0.029
598
P ACT232 Acute Necrotizing Encephalopathy 28 0.029
599
FTL007 Fetal Hydantoin Syndrome 28 0.029
600
BPH002 Biphasic Synovial Sarcoma 28 0.029
601
LRY026 Laryngeal Cleft 28 0.029
602
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27 0.029
603
HNM002 Hinman Syndrome 26 0.029
604
c CTS041 Cutis Laxa, Autosomal Dominant 3 26 0.029
605
PSD078 Pseudofolliculitis Barbae 25 0.029
606
c RNG021 Ring Chromosome 5 24 0.029
607
c DMN005 Diamond-Blackfan Anemia 2 24 0.029
608
PYR035 Pyrimidine Metabolic Disorder 24 0.029
609
P CMP101 Complex Hereditary Spastic Paraplegia 23 0.029
610
BRS045 Breast Adenoma 22 0.029
611
BLD165 Blood Group, Colton System 21 0.029
612
AND005 Androgen Insensitivity Syndrome, Mild 20 0.029
613
XLN215 X-Linked Congenital Generalized Hypertrichosis 18 0.029
614
BLD137 Blood Group--Ahonen 17 0.029
615
ANT040 Anton's Syndrome 16 0.029
616
MCR374 Microencephaly 16 0.029
617
OBS524 Obsolete: Benign Exophthalmos Syndrome 13 0.029
618
DMN042 Diaminopentanuria 13 0.029
619
OBS830 Obsolete: Autosomal Dominant Spastic Paraplegia Type 9 12 0.029
620
P PRR040 Pure or Complex Hereditary Spastic Paraplegia 9 0.029
621
CTR030 Citrulline Transport Defect 9 0.029
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