Search results for Galactose

505 hits were found for Galactose

# Family MCID Name MIFTS Score
1
GLC022 Glucose/galactose Malabsorption 46 8.825
2
GLC011 Galactose Epimerase Deficiency 46 5.713
3
GLC006 Galactosemia 63 4.077
4
FNC009 Fanconi-Bickel Syndrome 56 3.983
5
FRC012 Fructose and Galactose Intolerance 9 3.292
6
DSR055 Disorder of Galactose Metabolism 15 2.411
7
GNR029 Generalized Galactose Epimerase Deficiency 13 2.328
8
ERY041 Erythrocyte Galactose Epimerase Deficiency 9 2.314
9
P CTR002 Cataract 62 0.482
10
P LVR013 Liver Disease 71 0.248
11
GLC004 Galactokinase Deficiency 57 0.229
12
AGN016 Aging 58 0.220
13
LVR012 Liver Cirrhosis 67 0.205
14
IGG001 Iga Glomerulonephritis 50 0.205
15
P DRR001 Diarrhea 55 0.197
16
P MCR115 Microvascular Complications of Diabetes 5 67 0.147
17
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.147
18
P FCL005 Focal Segmental Glomerulosclerosis 63 0.140
19
P URT039 Urticaria 61 0.140
20
CLS031 Classic Galactosemia and Clinical Variant Galactosemia 17 0.140
21
P HPT023 Hepatocellular Carcinoma 99 0.136
22
HLX001 Helix Syndrome 46 0.136
23
P NRP001 Neuropathy 57 0.132
24
FDL002 Food Allergy 52 0.132
25
EPM005 Epimerase Deficiency Galactosemia 21 0.132
26
P GLY013 Glycogen Storage Disease 59 0.128
27
ATS010 Autosomal Recessive Disease 49 0.128
28
ALL026 Allergic Hypersensitivity Disease 65 0.124
29
DBT010 Diabetic Neuropathy 56 0.124
30
P OVR042 Ovarian Cancer 89 0.120
31
CHL014 Cholera 58 0.120
32
AMB001 Amebiasis 44 0.120
33
HYP056 Hypoglycemia 68 0.115
34
HYP066 Hyperglycemia 63 0.115
35
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.111
36
P GLM007 Glomerulonephritis 58 0.111
37
GLC003 Glucose Intolerance 55 0.106
39
c PRM196 Premature Ovarian Failure 1 70 0.101
40
NTR005 Nutritional Deficiency Disease 61 0.101
41
END030 End Stage Renal Failure 60 0.101
42
P DBT009 Diabetes Mellitus 66 0.096
43
P NRB010 Neuroblastoma 1 66 0.096
44
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.096
45
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 65 0.096
46
P CLR023 Colorectal Cancer 100 0.091
47
P KDN018 Kidney Disease 73 0.091
48
LSH001 Leishmaniasis 64 0.091
49
ATM095 Autoimmune Disease 62 0.091
50
P LCT002 Lactose Intolerance 51 0.091
51
P KLZ004 Kala-Azar 1 43 0.091
52
DRT002 Duarte Variant Galactosemia 15 0.091
53
c CNG411 Congenital Disorder of Glycosylation, Type in 66 0.085
54
P ADN016 Adenocarcinoma 65 0.085
55
P NPH012 Nephrotic Syndrome 65 0.085
56
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 63 0.085
57
RTN020 Retinal Vascular Disease 49 0.085
58
c FCL025 Focal Segmental Glomerulosclerosis 1 47 0.085
59
TRD008 Triiodothyronine Receptor Auxiliary Protein 35 0.085
60
CHG001 Chagas Disease 66 0.078
61
c BRN108 Branchiootic Syndrome 1 62 0.078
62
CHL068 Cholestasis 61 0.078
63
P BCL017 B-Cell Lymphoma 61 0.078
64
VRC005 Varicose Veins 61 0.078
65
P ANG015 Angioedema 54 0.078
66
NPH003 Nephrocalcinosis 52 0.078
67
CRB025 Carbohydrate Metabolic Disorder 45 0.078
68
MST004 Mast Cell Neoplasm 40 0.078
69
EXT007 Extracutaneous Mastocytoma 39 0.078
70
48X005 48,xyyy 37 0.078
71
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 32 0.078
72
P ALZ034 Alzheimer Disease 90 0.072
73
P ENC018 Encephalopathy 64 0.072
74
P MYP004 Myopathy 63 0.072
75
FTT001 Fatty Liver Disease 63 0.072
76
AMN003 Amnestic Disorder 55 0.072
77
ATX038 Ataxia and Polyneuropathy, Adult-Onset 51 0.072
78
HYP080 Hypogonadism 51 0.072
79
ESP002 Esophageal Varix 49 0.072
80
P FNC004 Fanconi Syndrome 48 0.072
81
GLL048 Glial Tumor 48 0.072
82
LPD004 Lipoid Nephrosis 48 0.072
83
HYP064 Hypogonadotropism 40 0.072
84
OVR094 Ovarian Epithelial Cancer 39 0.072
85
PHN003 Phenylketonuria 73 0.064
86
P GRF003 Graft-Versus-Host Disease 71 0.064
87
c CHR684 Chronic Kidney Disease 68 0.064
88
FBR012 Fabry Disease 68 0.064
89
NPH091 Nephrolithiasis, Calcium Oxalate 66 0.064
90
P HRP006 Herpes Simplex 66 0.064
91
P PRD008 Periodontitis 66 0.064
92
CLN015 Colon Adenocarcinoma 65 0.064
93
P VSC011 Vasculitis 64 0.064
94
P GLM045 Glioma 64 0.064
95
CHY002 Chylomicron Retention Disease 63 0.064
96
RNL024 Renal Glucosuria 59 0.064
97
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.064
98
P ALC033 Alcohol Use Disorder 58 0.064
99
P OVR049 Ovarian Disease 55 0.064
100
P IGN003 Iga Nephropathy 1 50 0.064
101
NTR046 Neutrophil Migration 49 0.064
102
THR013 Thoracic Outlet Syndrome 49 0.064
103
SPL018 Splenomegaly 48 0.064
104
SLP001 Sleeping Sickness 47 0.064
105
CHR074 Choriocarcinoma 47 0.064
106
HMP009 Haemophilus Influenzae 46 0.064
107
KRT008 Keratopathy 46 0.064
108
ATX019 Ataxia with Vitamin E Deficiency 46 0.064
109
P CTR177 Citrullinemia, Type Ii, Adult-Onset 44 0.064
110
P HYP265 Hypotonia 43 0.064
111
c CHR682 Chronic Bilirubin Encephalopathy 36 0.064
112
CHL079 Children's Interstitial Lung Disease 27 0.064
113
TRY004 Trypanosomiasis, Human East-African 25 0.064
114
OSM001 Osmotic Diarrhea 25 0.064
115
c SYS001 Systemic Lupus Erythematosus 88 0.055
116
GLB002 Glioblastoma 74 0.055
117
END057 Endometrial Cancer 74 0.055
118
P HPT021 Hepatitis 69 0.055
119
BRK010 Burkitt Lymphoma 68 0.055
120
P PRP019 Peripheral Nervous System Disease 64 0.055
121
ANR007 Anorexia Nervosa 64 0.055
122
P ANR048 Aniridia 1 64 0.055
123
P HMN010 Hemangioma 62 0.055
124
c HPT001 Hepatitis C 62 0.055
125
ACN002 Acanthosis Nigricans 62 0.055
126
LKD001 Leukodystrophy 61 0.055
127
CTN007 Cutaneous Leishmaniasis 61 0.055
128
P PNC044 Pancreatitis 61 0.055
129
ADN018 Adenoma 60 0.055
130
HPT019 Hepatic Encephalopathy 60 0.055
131
P TRC086 Trichohepatoenteric Syndrome 1 57 0.055
132
PRM236 Primary Biliary Cholangitis 57 0.055
133
EMB004 Embryonal Carcinoma 57 0.055
134
PRP030 Purpura 56 0.055
135
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.055
136
c FML035 Familial Hyperlipidemia 56 0.055
137
P INT068 Intestinal Disease 56 0.055
138
AVN001 Avian Influenza 56 0.055
139
P TRM003 Tremor 55 0.055
140
P PRM006 Primary Biliary Cirrhosis 54 0.055
141
c ACT134 Acute Liver Failure 53 0.055
142
DNT012 Dental Caries 52 0.055
143
c INH020 Inherited Metabolic Disorder 51 0.055
144
TRY001 Trypanosomiasis 50 0.055
145
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 49 0.055
146
P OBS001 Obstructive Jaundice 49 0.055
147
P RNL007 Renal Tubular Acidosis 49 0.055
148
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 48 0.055
149
c CNG389 Congenital Disorder of Glycosylation, Type Iim 48 0.055
150
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48 0.055
151
CYT002 Cytokine Deficiency 46 0.055
152
MCC002 Mucocutaneous Leishmaniasis 45 0.055
153
PRM329 Premature Aging 41 0.055
154
ATX010 Ataxia Neuropathy Spectrum 39 0.055
155
AMN006 Aminoaciduria 39 0.055
156
c CNG379 Congenital Disorder of Glycosylation, Type It 36 0.055
157
ARG004 Argyria 28 0.055
158
P ACT232 Acute Necrotizing Encephalopathy 28 0.055
159
MTR001 Mature Cataract 28 0.055
160
BLD137 Blood Group--Ahonen 17 0.055
161
P LNG032 Lung Cancer 99 0.045
162
P BRS047 Breast Cancer 99 0.045
163
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91 0.045
164
P PNC035 Pancreatic Cancer 86 0.045
165
P GST053 Gastric Cancer 85 0.045
166
CYS001 Cystic Fibrosis 84 0.045
167
P ATX030 Ataxia-Telangiectasia 83 0.045
168
SQM013 Squamous Cell Carcinoma, Head and Neck 81 0.045
169
INS024 Insulin-Like Growth Factor I 79 0.045
170
P HRT032 Heart Disease 78 0.045
171
SVR004 Severe Combined Immunodeficiency 74 0.045
172
c SPN225 Spondyloarthropathy 1 74 0.045
173
c ATM006 Autoimmune Lymphoproliferative Syndrome 73 0.045
174
P PHC003 Pheochromocytoma 71 0.045
175
P ART022 Arthritis 71 0.045
176
RCK004 Rickets 70 0.045
177
P INF038 Influenza 69 0.045
178
P LKM002 Leukemia 69 0.045
179
P SYS005 Systemic Scleroderma 68 0.045
180
P KRB001 Krabbe Disease 68 0.045
181
GST092 Gastroesophageal Reflux 68 0.045
182
MLN008 Melanoma 68 0.045
183
P DRM053 Dermatitis, Atopic 68 0.045
184
P OLG002 Oligodendroglioma 67 0.045
185
P THR014 Thrombocytopenia 67 0.045
186
BRR014 Barrett Esophagus 67 0.045
187
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.045
188
AND002 Androgen Insensitivity Syndrome 66 0.045
189
P ANG001 Angelman Syndrome 65 0.045
190
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 65 0.045
191
LPD008 Lipid Metabolism Disorder 64 0.045
192
c ACT068 Acute Cystitis 63 0.045
193
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 63 0.045
194
P ESP024 Esophagitis 62 0.045
195
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.045
196
c SCL052 Scleroderma, Familial Progressive 62 0.045
197
IGR001 Ige Responsiveness, Atopic 61 0.045
198
GLB015 Glioblastoma Multiforme 60 0.045
199
ART001 Arterial Tortuosity Syndrome 60 0.045
200
GST045 Gastroenteritis 60 0.045
201
c HPT003 Hepatitis a 60 0.045
202
P INF032 Infertility 60 0.045
203
EYD002 Eye Disease 59 0.045
204
P OPT006 Optic Nerve Disease 59 0.045
205
P AXN002 Axenfeld-Rieger Syndrome 58 0.045
206
ERY051 Erythroleukemia, Familial 58 0.045
207
HPT022 Hepatoblastoma 58 0.045
208
P INF037 Inflammatory Bowel Disease 57 0.045
209
BCT022 Bacterial Infectious Disease 57 0.045
210
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 57 0.045
211
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 57 0.045
212
P GLL022 Guillain-Barre Syndrome 56 0.045
213
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 56 0.045
214
P LYM031 Lymphocytic Leukemia 56 0.045
215
P SHR029 Short Syndrome 56 0.045
216
P ALP106 Alport Syndrome 1, X-Linked 55 0.045
217
P HYP076 Hyperthyroidism 55 0.045
218
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 55 0.045
219
VSC003 Visceral Leishmaniasis 55 0.045
220
P ESP035 Esophagitis, Eosinophilic, 1 54 0.045
221
P DBT005 Diabetes Insipidus 54 0.045
222
P MTC133 Mitochondrial Myopathy 53 0.045
223
DYS073 Dysphagia 52 0.045
224
P LCT001 Lactic Acidosis 52 0.045
225
MCL006 Macular Retinal Edema 52 0.045
226
P AST007 Astrocytoma 52 0.045
227
BLR001 Biliary Atresia 51 0.045
228
ADR040 Adrenal Gland Pheochromocytoma 51 0.045
229
APR001 Apraxia 50 0.045
230
P OVR046 Ovarian Cyst 50 0.045
231
RYN005 Raynaud Phenomenon 50 0.045
232
HYP781 Hypoascorbemia 48 0.045
233
KRT002 Keratomalacia 47 0.045
234
c CRV002 Cervix Uteri Carcinoma in Situ 47 0.045
235
MCL027 Macular Dystrophy, Dominant Cystoid 47 0.045
236
RBF001 Riboflavin Deficiency 46 0.045
237
DYS015 Dysentery 45 0.045
238
MSN001 Mesangial Proliferative Glomerulonephritis 45 0.045
239
P GNG009 Gangliosidosis 45 0.045
240
DBT002 Diabetic Autonomic Neuropathy 45 0.045
241
c NPH049 Nephrotic Syndrome, Type 2 45 0.045
242
TRT001 Teratocarcinoma 44 0.045
243
DRG024 Drug Allergy 43 0.045
244
IDP091 Idiopathic Nephrotic Syndrome 43 0.045
245
c PCH010 Pachyonychia Congenita 3 43 0.045
246
P PRL003 Proliferative Glomerulonephritis 43 0.045
247
DBT007 Diabetic Cataract 42 0.045
248
HPT004 Hepatic Coma 42 0.045
249
P GLM044 Glomerular Disease 42 0.045
250
CRV045 Cervical Intraepithelial Neoplasia 41 0.045
251
ALL014 Allergic Encephalomyelitis 40 0.045
252
c OVR114 Ovarian Cancer 1 39 0.045
253
P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 37 0.045
254
P HRD217 Hereditary Optic Neuropathy 35 0.045
255
PPL052 Papillomatosis, Confluent and Reticulated 34 0.045
256
SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 32 0.045
257
PYR009 Pyridoxine Deficiency Anemia 32 0.045
258
ALR002 Al-Raqad Syndrome 32 0.045
259
LCT013 Lactase Deficiency, Congenital 32 0.045
260
MYC088 Mycobacterium Avium Complex Infections 30 0.045
261
c RNG015 Ring Chromosome 2 27 0.045
262
EXR007 Exercise-Induced Anaphylaxis 25 0.045
263
P C1Q005 C1q Nephropathy 22 0.045
264
c BLD146 Blood Group, P1pk System 21 0.045
265
BLD165 Blood Group, Colton System 21 0.045
266
AND005 Androgen Insensitivity Syndrome, Mild 20 0.045
267
c IGN002 Iga Nephropathy 2 18 0.045
268
OBS524 Obsolete: Benign Exophthalmos Syndrome 13 0.045
269
SLC037 Slc35a2-Congenital Disorder of Glycosylation 12 0.045
270
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.032
271
NRL016 Neural Tube Defects 83 0.032
272
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 82 0.032
273
MLR004 Malaria 82 0.032
274
P RHM011 Rheumatoid Arthritis 82 0.032
275
c DLT002 Dilated Cardiomyopathy 81 0.032
276
AST005 Asthma 80 0.032
277
IMM167 Immune Deficiency Disease 79 0.032
278
PFF001 Pfeiffer Syndrome 79 0.032
279
P RTN008 Retinitis Pigmentosa 77 0.032
280
CRV035 Cervical Cancer 77 0.032
281
CRH001 Crohn's Disease 75 0.032
282
BRN028 Brain Cancer 75 0.032
283
c THR092 Thrombophilia Due to Thrombin Defect 74 0.032
284
c HPT073 Hepatitis C Virus 74 0.032
285
LYM143 Lymphoma, Non-Hodgkin, Familial 74 0.032
286
HMN044 Human Immunodeficiency Virus Type 1 73 0.032
287
P MLT020 Multiple Sclerosis 73 0.032
288
PLM001 Pulmonary Tuberculosis 72 0.032
289
c NRF024 Neurofibromatosis, Type I 72 0.032
290
OTT002 Otitis Media 71 0.032
291
P WSK001 Wiskott-Aldrich Syndrome 71 0.032
292
P CRD119 Cardiac Arrest 71 0.032
293
BRN024 Bronchitis 70 0.032
294
P HYP086 Hypothyroidism 70 0.032
295
DWN001 Down Syndrome 70 0.032
296
P LYM118 Lymphoma 70 0.032
297
WLS001 Wilson Disease 69 0.032
298
LGH007 Leigh Syndrome 69 0.032
299
CNG034 Congestive Heart Failure 69 0.032
300
P MTC003 Metachromatic Leukodystrophy 69 0.032
301
MYL005 Myelofibrosis 69 0.032
302
P DBT085 Diabetes Mellitus, Insulin-Dependent 68 0.032
303
P LNG028 Long Qt Syndrome 68 0.032
304
CHL065 Cholangiocarcinoma 68 0.032
305
P DMN002 Dementia 68 0.032
306
P HYD006 Hydrocephalus 68 0.032
307
CNN005 Connective Tissue Disease 68 0.032
308
P LKM062 Leukemia, Acute Lymphoblastic 68 0.032
309
ABT001 Abetalipoproteinemia 68 0.032
310
P MPL001 Maple Syrup Urine Disease 68 0.032
311
c GLY008 Glycogen Storage Disease Ii 68 0.032
312
c MCR129 Microvascular Complications of Diabetes 1 67 0.032
313
CLF027 Cleft Palate, Isolated 67 0.032
314
c SML038 Small Cell Cancer of the Lung 67 0.032
315
OST159 Osteogenic Sarcoma 67 0.032
316
PRT036 Peritonitis 66 0.032
317
PRT037 Pertussis 66 0.032
318
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.032
319
P PLM036 Pulmonary Fibrosis 66 0.032
320
MYL031 Myeloproliferative Neoplasm 66 0.032
321
P ALP004 Alport Syndrome 66 0.032
322
P VSC007 Vascular Disease 65 0.032
323
NRF026 Neurofibromatosis, Type Iv, of Riccardi 65 0.032
324
c CNG006 Congenital Hypothyroidism 65 0.032
325
IDP011 Idiopathic Interstitial Pneumonia 65 0.032
326
P HML002 Hemolytic Anemia 64 0.032
327
KRN002 Kearns-Sayre Syndrome 64 0.032
328
c RHB024 Rhabdomyosarcoma 2 64 0.032
329
P THY023 Thymoma 64 0.032
330
P VNW001 Von Willebrand's Disease 64 0.032
331
INT323 Intraocular Pressure Quantitative Trait Locus 64 0.032
332
P ENC004 Encephalitis 64 0.032
333
P NTR004 Neutropenia 64 0.032
334
LWC002 Lowe Oculocerebrorenal Syndrome 63 0.032
335
DRM006 Dermatitis 63 0.032
336
P PSR002 Psoriasis 63 0.032
337
c HPT016 Hepatitis B 63 0.032
338
P ACR001 Aicardi-Goutieres Syndrome 63 0.032
339
MCR013 Microphthalmia 62 0.032
340
P RHB003 Rhabdomyosarcoma 62 0.032
341
ADL002 Adult Syndrome 62 0.032
342
c VSC019 Vesicoureteral Reflux 1 62 0.032
343
P SNS001 Sensorineural Hearing Loss 62 0.032
344
NRL005 Neurilemmoma 62 0.032
345
CTR172 Citrullinemia, Classic 62 0.032
346
PRT013 Portal Hypertension 61 0.032
347
P TXP001 Toxoplasmosis 61 0.032
348
MSL001 Measles 61 0.032
349
c TYR012 Tyrosinemia, Type I 61 0.032
350
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 61 0.032
351
P BRN019 Bernard-Soulier Syndrome 60 0.032
352
c ACT027 Acute Pancreatitis 60 0.032
353
P MYC008 Myocarditis 60 0.032
354
ALC006 Alcoholic Hepatitis 60 0.032
355
WLL001 Williams-Beuren Syndrome 60 0.032
356
INS001 Insulinoma 60 0.032
357
P EHL001 Ehlers-Danlos Syndrome 60 0.032
358
PLM033 Pulmonary Embolism 60 0.032
359
ARG002 Argininosuccinic Aciduria 59 0.032
360
P CYS018 Cystitis 59 0.032
361
c PTT056 Pituitary Adenoma 1, Multiple Types 59 0.032
362
c ACT210 Acute Respiratory Distress Syndrome 59 0.032
363
c GM1007 Gm1 Gangliosidosis 59 0.032
364
P END033 Endocarditis 58 0.032
365
P PLY011 Polycystic Ovary Syndrome 58 0.032
366
c GM1004 Gm1-Gangliosidosis, Type I 58 0.032
367
HYD002 Hydronephrosis 58 0.032
368
P FTT008 Fatty Liver Disease, Nonalcoholic 1 58 0.032
369
P PYL005 Pyelonephritis 58 0.032
370
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 58 0.032
371
P STR020 Strabismus 57 0.032
372
RTN209 Retinoschisis 1, X-Linked, Juvenile 57 0.032
373
P MMP001 Mumps 57 0.032
374
P CHN012 Chondrosarcoma 57 0.032
375
P MLN007 Male Infertility 57 0.032
376
BRN004 Brain Edema 57 0.032
377
RHM027 Rheumatic Disease 56 0.032
378
ALL006 Allergic Asthma 56 0.032
379
EXF001 Exfoliation Syndrome 56 0.032
380
c VRL010 Viral Hepatitis 56 0.032
381
c CHR417 Chronic Graft Versus Host Disease 56 0.032
382
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 56 0.032
383
MCS002 Mucositis 56 0.032
384
MNR012 Meniere Disease 56 0.032
385
c PRD040 Periodontitis, Chronic 56 0.032
386
P ART021 Arteriosclerosis 56 0.032
387
c CNG216 Congenital Hydrocephalus 55 0.032
388
c MCR113 Microvascular Complications of Diabetes 3 55 0.032
389
MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 55 0.032
390
HYP060 Hyperinsulinism 55 0.032
391
c THY107 Thymoma, Familial 55 0.032
392
c GRV008 Graves Disease 1 55 0.032
393
DRR016 Diarrhea 2, with Microvillus Atrophy 54 0.032
394
INT079 Intrahepatic Cholangiocarcinoma 54 0.032
395
P MMB011 Membranous Nephropathy 54 0.032
396
P TYR004 Tyrosinemia 54 0.032
397
PLM017 Pulmonary Alveolar Microlithiasis 54 0.032
398
SPP010 Suppressor of Tumorigenicity 3 54 0.032
399
P HMR003 Hemorrhagic Disease 54 0.032
400
INF034 Infective Endocarditis 53 0.032
401
P PTT006 Pituitary Adenoma 53 0.032
402
c ACR116 Aicardi-Goutieres Syndrome 1 53 0.032
403
GST023 Gastric Ulcer 53 0.032
404
NNL006 Non-Alcoholic Steatohepatitis 53 0.032
405
LYS002 Lysosomal Storage Disease 52 0.032
406
RGH009 Right Atrial Isomerism 52 0.032
407
P HMC002 Homocystinuria 52 0.032
408
FND002 Fundus Dystrophy 52 0.032
409
P MYT002 Myotonic Dystrophy 52 0.032
410
FRC011 Fructose Intolerance, Hereditary 52 0.032
411
c NNS007 Nonsyndromic Deafness 51 0.032
412
OCC006 Occipital Horn Syndrome 51 0.032
413
CLR109 Colorectal Adenocarcinoma 51 0.032
414
BNR002 Bone Resorption Disease 51 0.032
415
PST011 Pustulosis of Palm and Sole 51 0.032
416
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.032
417
MCL075 Macular Dystrophy, Corneal 50 0.032
418
NRM004 Neuroma 50 0.032
419
PRT018 Portal Vein Thrombosis 50 0.032
420
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 50 0.032
421
MCR004 Macroglobulinemia 50 0.032
422
MLT134 Multiple Pterygium Syndrome, Lethal Type 50 0.032
423
MNN009 Meningoencephalitis 50 0.032
424
SXL003 Sexual Disorder 49 0.032
425
TST014 Testicular Cancer 49 0.032
426
RNL077 Renal Fibrosis 49 0.032
427
47X002 47,xyy 49 0.032
428
ADT003 Auditory System Disease 49 0.032
429
TST015 Testicular Disease 49 0.032
430
HPT014 Hepatorenal Syndrome 49 0.032
431
MTB004 Metabolic Acidosis 48 0.032
432
c MCR120 Microvascular Complications of Diabetes 7 48 0.032
433
P FNG006 Feingold Syndrome 1 48 0.032
434
BCT004 Bacteriuria 48 0.032
435
LYM019 Lymphosarcoma 48 0.032
436
c INH030 Inherited Retinal Disorder 48 0.032
437
HYP017 Hypophosphatemia 48 0.032
438
P KRN004 Kernicterus 47 0.032
439
PTT037 Pituitary Tumors 47 0.032
440
c GM1005 Gm1-Gangliosidosis, Type Ii 47 0.032
441
GRM005 Germ Cell Cancer 47 0.032
442
P MYC033 Myoclonus 47 0.032
443
HDN002 Head Injury 47 0.032
444
GLC008 Glucose Metabolism Disease 47 0.032
445
RTN023 Retinitis 46 0.032
446
NRR001 Neuroretinitis 46 0.032
447
c MLG068 Malignant Glioma 46 0.032
448
KWS001 Kwashiorkor 46 0.032
449
ENT004 Enthesopathy 46 0.032
450
P CRN025 Corneal Dystrophy 45 0.032
451
DWR001 Dwarfism 45 0.032
452
c PRM038 Primary Agammaglobulinemia 45 0.032
453
c ACT042 Acute Pyelonephritis 44 0.032
454
P CRN026 Corneal Edema 44 0.032
455
EST005 Esotropia 44 0.032
456
DMP001 Dumping Syndrome 44 0.032
457
c ATS307 Autosomal Recessive Cerebellar Ataxia 44 0.032
458
c BDY007 Body Mass Index Quantitative Trait Locus 1 43 0.032
459
DBT090 Diabetes and Deafness, Maternally Inherited 43 0.032
460
ANC002 Anca-Associated Vasculitis 43 0.032
461
SMN007 Seminoma 43 0.032
462
P CRB088 Cerebral Atrophy 43 0.032
463
c MCR130 Microvascular Complications of Diabetes 6 42 0.032
464
c MCR133 Microvascular Complications of Diabetes 4 42 0.032
465
GLT018 Glut1 Deficiency Syndrome 1 42 0.032
466
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 41 0.032
467
SNL007 Senile Cataract 41 0.032
468
P TST026 Testicular Germ Cell Cancer 40 0.032
469
OVR093 Overhydrated Hereditary Stomatocytosis 40 0.032
470
HYP141 Hyperphenylalaninemia 40 0.032
471
WLL004 Wallerian Degeneration 40 0.032
472
P MRQ003 Morquio Syndrome 39 0.032
473
EXT006 Extrahepatic Cholestasis 38 0.032
474
P HRD144 Hereditary Mixed Polyposis Syndrome 38 0.032
475
c ACT004 Acute Diarrhea 38 0.032
476
c CNG383 Congenital Disorder of Glycosylation, Type Iik 37 0.032
477
STR103 Streptococcus Pneumonia 37 0.032
478
BCK003 Background Diabetic Retinopathy 37 0.032
479
c NNN021 Noonan Syndrome 8 37 0.032
480
CHR178 Chromosomal Triplication 36 0.032
481
c CNG187 Congenital Disorder of Glycosylation, Type Iid 36 0.032
482
c FML347 Familial Adenomatous Polyposis 2 36 0.032
483
SPN331 Spondyloocular Syndrome 35 0.032
484
NND010 Nondisjunction 35 0.032
485
P MYC026 Myoclonus Epilepsy 34 0.032
486
P PRS013 Prosopagnosia 34 0.032
487
c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 33 0.032
488
PLY150 Polykaryocytosis Inducer 31 0.032
489
PRC051 Paracetamol Poisoning 31 0.032
490
MCH006 Mechanical Strabismus 31 0.032
491
c ATM089 Autoimmune Neuropathy 30 0.032
492
PST092 Posttransplant Acute Limbic Encephalitis 29 0.032
493
c BLD140 Blood Group, I System 29 0.032
494
P PRG139 Progeroid Syndrome 27 0.032
495
MLG164 Malignant Epithelial Tumor of Ovary 27 0.032
496
PTN004 Patent Ductus Venosus 26 0.032
497
ATR055 Atrial Septal Aneurysm 25 0.032
498
MYT026 Myotonia Atrophica 25 0.032
499
BLD163 Blood Group, Dombrock System 24 0.032
500
c DMN005 Diamond-Blackfan Anemia 2 24 0.032
501
c CNG478 Congenital Diarrhea 23 0.032
502
c PRM200 Primary Fanconi Syndrome 21 0.032
504
FRC013 Fructose Utilization 15 0.032
505
c DSR045 Disorder of Protein N-Glycosylation 4 0.032
Content
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