Search results for "jaundice"

The MalaCard for "jaundice" has been retired.
Searching MalaCards for entries containing "jaundice"

527 hits were found for 'jaundice'

# Family MCID Name MIFTS Score
1
OBS001 Obstructive Jaundice 50 7.653
2
NNT012 Neonatal Jaundice 43 5.996
3
DBN001 Dubin-Johnson Syndrome 65 4.393
4
GLB001 Gilbert Syndrome 64 4.344
5
LPT001 Leptospirosis 53 4.262
6
PRN005 Perinatal Jaundice Due to Hepatocellular Damage 8 4.223
7
CNG117 Congenital Nonhemolytic Jaundice 6 3.734
8
LTZ001 Lutz Richner Landolt Syndrome 12 3.673
9
HYP481 Hyperbiliverdinemia 17 3.036
10
DLB001 Deal Barratt Dillon Syndrome 2 2.111
11
c PNC044 Pancreatitis 68 0.256
12
c HPT021 Hepatitis 63 0.251
13
c KRN004 Kernicterus 51 0.158
14
DDN006 Duodenitis 55 0.132
15
TBR010 Tuberculosis 85 0.125
16
HPT023 Hepatocellular Carcinoma 54 0.122
17
P CHL066 Cholangitis 54 0.114
18
CYS009 Cystadenoma 50 0.114
19
BLR001 Biliary Atresia 65 0.110
20
c ACT027 Acute Pancreatitis 63 0.110
21
P ADN016 Adenocarcinoma 58 0.110
22
P HRD011 Hereditary Spherocytosis 68 0.105
23
P CRG001 Crigler-Najjar Syndrome 72 0.101
24
P LVR013 Liver Disease 68 0.101
25
CHL068 Cholestasis 58 0.096
26
CRB045 Cerebellar Hypoplasia 39 0.096
27
P PNC035 Pancreatic Cancer 92 0.091
28
CHL065 Cholangiocarcinoma 69 0.091
29
PYR013 Pyruvate Kinase Deficiency 68 0.091
30
PLY023 Polycystic Liver Disease 61 0.091
31
ANR040 Aneurysm 45 0.091
32
c ATM024 Autoimmune Pancreatitis 50 0.086
33
DDN009 Duodenal Obstruction 26 0.086
34
P LKM002 Leukemia 76 0.080
35
CHL067 Cholecystitis 60 0.080
36
PLS011 Plasmacytoma 56 0.080
37
CHL052 Choledochal Cyst 50 0.080
38
BLD034 Bile Duct Carcinoma 47 0.080
39
LVR012 Liver Cirrhosis 76 0.074
40
GLL018 Gallbladder Cancer 66 0.074
41
ADN018 Adenoma 65 0.074
42
P MLN008 Melanoma 64 0.074
43
c VRL010 Viral Hepatitis 63 0.074
44
NRF007 Neurofibroma 57 0.074
45
HPT014 Hepatorenal Syndrome 56 0.074
46
c HPT007 Hepatitis E 52 0.074
47
GLC009 Glucosephosphate Dehydrogenase Deficiency 50 0.074
48
PYL006 Pyloric Stenosis 49 0.074
49
HYP009 Hypertrophic Pyloric Stenosis 49 0.074
50
ANN005 Annular Pancreas 42 0.074
51
MRZ001 Mirizzi Syndrome 19 0.074
52
HDG007 Hodgkin's Lymphoma 93 0.068
53
P MLT019 Multiple Myeloma 88 0.068
54
BRK003 Burkitt's Lymphoma 77 0.068
55
NNH001 Non-Hodgkin Lymphoma 72 0.068
56
SRC014 Sarcoma 68 0.068
57
c HPT016 Hepatitis B 68 0.068
58
c MYL007 Myeloma 60 0.068
59
LYM021 Lymphadenitis 47 0.068
60
HPT008 Hepatic Tuberculosis 46 0.068
61
LNG029 Lung Adenocarcinoma 43 0.068
62
GST053 Gastric Cancer 38 0.068
63
GST039 Gastroduodenitis 30 0.068
64
P NRF002 Neurofibromatosis 94 0.061
65
P ACT019 Acute Myeloid Leukemia 92 0.061
66
P HYP075 Hypertension 85 0.061
67
KWS002 Kawasaki Disease 75 0.061
68
c MYL006 Myeloid Leukemia 74 0.061
69
c THL005 Thalassemia 71 0.061
70
P HMN010 Hemangioma 70 0.061
71
CRY005 Cryptococcosis 67 0.061
72
P HPT001 Hepatitis C 66 0.061
73
P PRT013 Portal Hypertension 65 0.061
74
c HYP076 Hyperthyroidism 62 0.061
75
P ESN007 Eosinophilia 62 0.061
76
FSC002 Fascioliasis 61 0.061
77
MLR002 Miliary Tuberculosis 59 0.061
78
c HPT003 Hepatitis a 58 0.061
79
THY033 Thyrotoxicosis 57 0.061
80
MCN007 Meconium Aspiration Syndrome 56 0.061
81
c INT001 Intrahepatic Cholestasis 53 0.061
82
HMG002 Hemoglobinuria 51 0.061
83
BLR006 Biliary Tract Disease 50 0.061
84
CHL039 Choledocholithiasis 47 0.061
85
SPL018 Splenomegaly 46 0.061
86
BLD052 Blood Group Incompatibility 27 0.061
87
LCY001 Lucey-Driscoll Syndrome 23 0.061
88
P ATX002 Ataxia Telangiectasia 87 0.053
89
GLC006 Galactosemia 85 0.053
90
c BTT002 Beta Thalassemia 82 0.053
91
VNH001 Von Hippel-Lindau Disease 81 0.053
92
P LNG032 Lung Cancer 78 0.053
93
P CLR023 Colorectal Cancer 77 0.053
94
P MLR004 Malaria 74 0.053
95
c DBT009 Diabetes Mellitus 73 0.053
96
c HYP095 Hypercholesterolemia 72 0.053
97
SPT014 Septo-Optic Dysplasia 69 0.053
98
SPS077 Sepsis 69 0.053
99
P HST010 Histiocytosis 63 0.053
100
TYP007 Typhoid Fever 62 0.053
101
PRS047 Prostatitis 59 0.053
102
NRN004 Neuroendocrine Tumor 59 0.053
103
YLL002 Yellow Fever 59 0.053
104
c TRT010 Teratoma 58 0.053
105
RHB003 Rhabdomyosarcoma 58 0.053
106
c CNG015 Congenital Diaphragmatic Hernia 58 0.053
107
EXT010 Extramedullary Plasmacytoma 58 0.053
108
P SYP003 Syphilis 57 0.053
109
P HRD012 Hereditary Elliptocytosis 57 0.053
110
SCN006 Secondary Syphilis 56 0.053
111
P BCL006 B-Cell Lymphomas 56 0.053
112
ART001 Arterial Tortuosity Syndrome 55 0.053
113
MYL003 Myeloid Sarcoma 55 0.053
114
c BNG049 Benign Recurrent Intrahepatic Cholestasis 55 0.053
115
CYS014 Cystadenocarcinoma 54 0.053
116
c ACR001 Aicardi-Goutieres Syndrome 54 0.053
117
KLT001 Klatskin's Tumor 53 0.053
118
AND003 Andersen-Tawil Syndrome 53 0.053
119
GST045 Gastroenteritis 53 0.053
120
BLN003 Blindness 52 0.053
121
THR013 Thoracic Outlet Syndrome 52 0.053
122
SPT005 Spotted Fever 52 0.053
123
ESN005 Eosinophilic Gastroenteritis 51 0.053
124
RTR011 Retroperitoneal Fibrosis 50 0.053
125
P FNC004 Fanconi Syndrome 50 0.053
126
BRN106 Burns 49 0.053
127
CHL004 Cholelithiasis 47 0.053
128
ABD004 Abdominal Tuberculosis 46 0.053
129
ASC002 Ascariasis 46 0.053
130
LKP004 Leukopenia 44 0.053
131
PPL001 Papillary Adenoma 40 0.053
132
GST064 Gastric Outlet Obstruction 39 0.053
133
RTR013 Rotor Syndrome 36 0.053
134
RCK002 Rocky Mountain Spotted Fever 36 0.053
135
SYN053 Syndromic Diarrhea 34 0.053
136
ATH004 Athetosis 29 0.053
137
CYT004 Cytomegalic Inclusion Disease 29 0.053
138
c ACT036 Acute Cholangitis 25 0.053
139
EPS001 Epstein-Barr Virus Hepatitis 21 0.053
140
AFF001 Afferent Loop Syndrome 19 0.053
141
CYS001 Cystic Fibrosis 96 0.043
142
P AST005 Asthma 87 0.043
143
P FML021 Familial Hypercholesterolemia 85 0.043
144
SCK003 Sickle Cell Anemia 84 0.043
145
P NMN002 Niemann-Pick Disease 83 0.043
146
P GST019 Gastrointestinal Stromal Tumor 83 0.043
147
P ALG002 Alagille Syndrome 81 0.043
148
AND002 Androgen Insensitivity Syndrome 80 0.043
149
PTZ001 Peutz-Jeghers Syndrome 77 0.043
150
ANK002 Ankylosing Spondylitis 76 0.043
151
CRH001 Crohn's Disease 75 0.043
152
SKN016 Skin Disease 74 0.043
153
P ALP006 Alpha Thalassemia 74 0.043
154
HST011 Histoplasmosis 73 0.043
155
ALL003 Allergic Rhinitis 71 0.043
156
P ANG001 Angelman Syndrome 71 0.043
157
PRT036 Peritonitis 71 0.043
158
ACQ007 Acquired Immunodeficiency Syndrome 70 0.043
159
ART016 Aortic Aneurysm 70 0.043
160
c AXN002 Axenfeld-Rieger Syndrome 69 0.043
161
PLY017 Polyarteritis Nodosa 69 0.043
162
P STM004 Stomach Cancer 68 0.043
163
MYC006 Mycosis Fungoides 68 0.043
164
ATH003 Atherosclerosis 68 0.043
165
P ABD003 Abdominal Aortic Aneurysm 67 0.043
166
c NPH012 Nephrotic Syndrome 67 0.043
167
c HML002 Hemolytic Anemia 65 0.043
168
c TXP001 Toxoplasmosis 65 0.043
169
DRM006 Dermatitis 65 0.043
170
ULC004 Ulcerative Colitis 64 0.043
171
ACN002 Acanthosis Nigricans 64 0.043
172
P RHN004 Rhinitis 64 0.043
173
CLT003 Colitis 64 0.043
174
P ACT101 Acute Lymphoblastic Leukemia 64 0.043
175
ART019 Aortic Valve Stenosis 63 0.043
176
HRD014 Hereditary Coproporphyria 63 0.043
177
P RNL014 Renal Cell Carcinoma 63 0.043
178
MLT022 Malt Lymphoma 62 0.043
179
ISC004 Ischemia 62 0.043
180
c INT070 Intestinal Obstruction 62 0.043
181
HYP038 Hyperargininemia 62 0.043
182
P DDN001 Duodenal Ulcer 61 0.043
183
NRP001 Neuropathy 61 0.043
184
P HYP098 Hypereosinophilic Syndrome 61 0.043
185
P PRM054 Primary Sclerosing Cholangitis 60 0.043
186
SMT003 Somatostatinoma 59 0.043
187
P ATS007 Autism Spectrum Disorder 58 0.043
188
FRB001 Farber Lipogranulomatosis 58 0.043
189
CVR006 Cavernous Hemangioma 58 0.043
190
WLM001 Wolman Disease 58 0.043
191
LNG024 Langerhans-Cell Histiocytosis 57 0.043
192
ALC006 Alcoholic Hepatitis 57 0.043
193
BRN029 Brain Disease 57 0.043
194
P GNT008 Giant Cell Tumor 57 0.043
195
c CTR002 Cataract 57 0.043
196
SNS001 Sensorineural Hearing Loss 57 0.043
197
c HPT015 Hepatitis D 56 0.043
198
ATT002 Attention Deficit Hyperactivity Disorder 56 0.043
199
c LYM026 Lymphoblastic Leukemia 56 0.043
200
BLS002 Blastomycosis 56 0.043
201
DFF005 Diffuse Large B-Cell Lymphoma 55 0.043
202
CLN003 Clonorchiasis 55 0.043
203
SLT008 Solitary Fibrous Tumor 55 0.043
204
RFT001 Rift Valley Fever 55 0.043
205
CRM001 Crimean-Congo Hemorrhagic Fever 54 0.043
206
MCN001 Mucinous Adenocarcinoma 54 0.043
207
PRT018 Portal Vein Thrombosis 54 0.043
208
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 54 0.043
209
CHR008 Choroiditis 53 0.043
210
P JVN003 Juvenile Xanthogranuloma 53 0.043
211
MYX004 Myxedema 53 0.043
212
P HRD007 Hereditary Lymphedema 53 0.043
213
c LYM025 Lymphedema 52 0.043
214
MCN017 Meconium Ileus 51 0.043
215
MNN014 Mononeuritis 51 0.043
216
P CST002 Castleman's Disease 50 0.043
217
END072 Endotheliitis 50 0.043
218
SYN006 Synovial Sarcoma 50 0.043
219
PLX002 Plexiform Neurofibroma 49 0.043
220
HYP005 Hypokalemia 49 0.043
221
HYP026 Hypoglycemic Coma 49 0.043
222
CTS002 Cat-Scratch Disease 49 0.043
223
c SCL009 Sclerosing Cholangitis 49 0.043
224
P PLM030 Pleomorphic Rhabdomyosarcoma 49 0.043
225
SMN007 Seminoma 49 0.043
226
c PRM046 Primary Malignant Lymphoma 48 0.043
227
HYP017 Hypophosphatemia 48 0.043
228
FVS001 Favism 48 0.043
229
PPL018 Papillary Adenocarcinoma 47 0.043
230
c CRG002 Crigler Najjar Syndrome, Type 2 47 0.043
231
P ATX010 Ataxia Neuropathy Spectrum 47 0.043
232
GNG008 Ganglioneuroblastoma 46 0.043
233
AGN001 Aagenaes Syndrome 45 0.043
234
PNC047 Pancreatic Endocrine Tumors 44 0.043
235
P CHL080 Cholestasis, Progressive Familial Intrahepatic 1 44 0.043
236
ILS001 Ileus 44 0.043
237
CYT008 Cytomegalovirus Infection 43 0.043
238
NRN002 Neuronitis 43 0.043
239
HPT004 Hepatic Coma 43 0.043
240
PRT012 Prothrombin Deficiency 43 0.043
241
P THR045 Thrombotic Thrombocytopenic Purpura, Congenital 42 0.043
242
EXT006 Extrahepatic Cholestasis 42 0.043
243
NPH017 Nephrosis 42 0.043
244
XLN005 X-Linked Hyper Igm Syndrome 42 0.043
245
LYM010 Lymph Node Tuberculosis 41 0.043
246
ACL001 Acalculous Cholecystitis 40 0.043
247
INT079 Intrahepatic Cholangiocarcinoma 39 0.043
248
CRB009 Cerebritis 38 0.043
249
HMG010 Hemoglobinemia 38 0.043
250
c ADT004 Auditory Neuropathy 38 0.043
251
BLR008 Bilirubin Metabolic Disorder 37 0.043
252
SCR015 Scarlet Fever 37 0.043
253
LPG001 Lipogranulomatosis 36 0.043
254
ENT008 Enteropathy-Associated T-Cell Lymphoma 36 0.043
255
HYP554 Hyperbilirubinemia, Rotor Type, Digenic 35 0.043
256
GLC081 Glucose Phosphate Isomerase Deficiency 34 0.043
257
P CNG225 Congenital Dyserythropoietic Anemia Type 2 34 0.043
258
FCT013 Factor V Leiden Thrombophilia 34 0.043
259
LYM014 Lymphangitis 33 0.043
260
XNT002 Xanthogranulomatous Cholecystitis 33 0.043
261
NTR005 Nutritional Deficiency Disease 33 0.043
262
DLT006 Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 31 0.043
263
NRT006 North American Indian Childhood Cirrhosis 31 0.043
264
PNC039 Pancreatic Cystadenoma 30 0.043
265
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.043
266
SPL005 Splenic Artery Aneurysm 29 0.043
267
MLN013 Melanoma Metastasis 28 0.043
268
TFT003 Tufting Enteropathy 28 0.043
269
PPL003 Papillary Cystadenocarcinoma 28 0.043
270
PNC018 Pancreatic Serous Cystadenoma 28 0.043
271
EMP002 Emphysematous Cholecystitis 26 0.043
272
JJN004 Jejunal Atresia 26 0.043
273
BLC007 Bile Acid Synthesis Defect, Congenital, 1 25 0.043
274
EXF003 Exfoliative Dermatitis 25 0.043
275
ART007 Aorta Atresia 22 0.043
276
c BNG076 Benign Exophthalmos Syndrome 22 0.043
277
P LVR028 Liver Failure, Transient Infantile 22 0.043
278
ASC003 Ascending Cholangitis 21 0.043
279
RCT009 Rectosigmoid Cancer 19 0.043
280
MCN018 Mucinous Adenocarcinoma of the Appendix 19 0.043
281
AGN005 Agenesis of the Dorsal Pancreas 18 0.043
282
P GST043 Gastric Teratoma 17 0.043
283
c CHL115 Cholestasis, Intrahepatic, of Pregnancy, 3 14 0.043
284
P TYP008 Type 1 Diabetes Mellitus 95 0.030
285
P LVR011 Liver Cancer 90 0.030
286
P LFR001 Li-Fraumeni Syndrome 88 0.030
287
KPS001 Kaposi's Sarcoma 86 0.030
288
P HMC003 Hemochromatosis 85 0.030
289
P BRS047 Breast Cancer 85 0.030
290
INF030 Infectious Mononucleosis 84 0.030
291
P GCH001 Gaucher's Disease 83 0.030
292
P PRC016 Pre-Eclampsia 79 0.030
293
P RFS001 Refsum Disease 77 0.030
294
CHD001 Chediak-Higashi Syndrome 76 0.030
295
GLN003 Glanzmann's Thrombasthenia 76 0.030
296
P FML018 Familial Mediterranean Fever 75 0.030
297
P CLC005 Celiac Disease 74 0.030
298
P HYP035 Hypophosphatasia 73 0.030
299
CYS008 Cystic Echinococcosis 73 0.030
300
ADN001 Adenosine Deaminase Deficiency 73 0.030
301
c PRM002 Primary Hyperoxaluria 73 0.030
302
P PRM006 Primary Biliary Cirrhosis 72 0.030
303
GLL008 Gilles De La Tourette Syndrome 72 0.030
304
ATS001 Autistic Disorder 70 0.030
305
P NRB001 Neuroblastoma 70 0.030
306
c THR014 Thrombocytopenia 69 0.030
307
c ACT074 Acute Lymphocytic Leukemia 69 0.030
308
SHW002 Shwachman-Diamond Syndrome 69 0.030
309
P KDN017 Kidney Cancer 69 0.030
310
SCR008 Scrub Typhus 68 0.030
311
c HYP086 Hypothyroidism 68 0.030
312
NNS005 Non-Small Cell Lung Carcinoma 67 0.030
313
c PRP029 Porphyria 67 0.030
314
c NMN004 Niemann-Pick Disease Type C1 67 0.030
315
PLS006 Plasmodium Vivax Malaria 66 0.030
316
HPT002 Hepatic Vein Thrombosis 66 0.030
317
c AMY001 Amyotrophic Lateral Sclerosis 66 0.030
318
P ATM010 Autoimmune Hemolytic Anemia 66 0.030
319
GNR017 Generalized Pustular Psoriasis 65 0.030
320
P TYR002 Tyrosinemia Type I 64 0.030
321
c SML001 Small Cell Carcinoma 63 0.030
322
c ECL001 Eclampsia 63 0.030
323
BTN003 Biotinidase Deficiency 63 0.030
324
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.030
325
c GLL020 Gallbladder Disease 63 0.030
326
P OLG002 Oligodendroglioma 62 0.030
327
CMP002 Campylobacteriosis 62 0.030
328
PSR002 Psoriasis 62 0.030
329
c MLG054 Malignant Histiocytosis 62 0.030
330
ART005 Arteriovenous Malformation 62 0.030
331
c ERY009 Erythropoietic Protoporphyria 62 0.030
332
SCK005 Sickle Cell Disease 61 0.030
333
P GTR002 Goiter 61 0.030
334
CHR074 Choriocarcinoma 60 0.030
335
CRC006 Carcinoid Syndrome 60 0.030
336
P CTR001 Citrullinemia 60 0.030
337
c ATM011 Autoimmune Hepatitis 60 0.030
338
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.030
339
CLD007 Cold Agglutinin Disease 59 0.030
340
P FND001 Fundus Albipunctatus 59 0.030
341
SCR002 Scurvy 59 0.030
342
ECH003 Echinococcosis 58 0.030
343
MYC002 Mycobacterium Avium Complex Disease 58 0.030
344
NRN001 Neuroendocrine Carcinoma 58 0.030
345
LYM019 Lymphosarcoma 58 0.030
346
HYP063 Hypersplenism 58 0.030
347
c TRC011 Treacher Collins Syndrome 57 0.030
348
FLL008 Folliculitis 57 0.030
349
URM002 Uremia 57 0.030
350
NRL005 Neurilemmoma 57 0.030
351
P HMR012 Hemorrhagic Fever 57 0.030
352
P SDR002 Siderosis 57 0.030
353
INS008 Insulin-Like Growth Factor I Deficiency 56 0.030
354
ACT017 Acute Chest Syndrome 56 0.030
355
NTR003 Natural Killer Cell Leukemia 56 0.030
356
c MNT147 Mental Retardation 56 0.030
357
PRT011 Protein C Deficiency 55 0.030
358
TYP011 Typhus 55 0.030
359
GST050 Gastrointestinal System Disease 55 0.030
360
ACR005 Acrodermatitis 55 0.030
361
c ACT117 Acute Myelomonocytic Leukemia 54 0.030
362
P PND001 Pain Disorder 54 0.030
363
HYP121 Hypoalphalipoproteinemia 54 0.030
364
HPT032 Hepatocellular Carcinoma, Somatic 53 0.030
365
c ACT134 Acute Liver Failure 53 0.030
366
PHS009 Phosphoglycerate Kinase Deficiency 53 0.030
367
c INT099 Intrahepatic Cholestasis of Pregnancy 52 0.030
368
PRL019 Prolidase Deficiency 52 0.030
369
P HYP083 Hypopituitarism 52 0.030
370
RSD004 Rosai-Dorfman Disease 52 0.030
371
P SLL003 Salla Disease 51 0.030
372
c CNG027 Congenital Hemolytic Anemia 51 0.030
373
NNL002 Nonalcoholic Steatohepatitis 51 0.030
374
P CTR103 Cataract 4, Multiple Types 51 0.030
375
NDL007 Nodular Goiter 51 0.030
376
GNG005 Gangliocytoma 51 0.030
377
MLK003 Melkersson-Rosenthal Syndrome 51 0.030
378
AMY053 Amyloidosis, Secondary 51 0.030
379
P ALC004 Alcohol Abuse 51 0.030
380
c DRR001 Diarrhea 51 0.030
381
FML026 Familial Lipoprotein Lipase Deficiency 51 0.030
382
LPD004 Lipoid Nephrosis 50 0.030
383
DRG002 Drug-Induced Hepatitis 50 0.030
384
MLG121 Male Germ Cell Tumor, Somatic 50 0.030
385
ATX019 Ataxia with Vitamin E Deficiency 50 0.030
386
c CRB126 Cerebral Cavernous Malformation 50 0.030
387
OVR012 Ovarian Serous Cystadenocarcinoma 50 0.030
388
ACT099 Acute Fatty Liver of Pregnancy 49 0.030
389
NNT016 Neonatal Hemochromatosis 49 0.030
390
c SVR005 Severe Pre-Eclampsia 49 0.030
391
OPS001 Opisthorchiasis 48 0.030
392
P PSD065 Pseudo-Torch Syndrome 48 0.030
393
ACN014 Acanthocytosis 48 0.030
394
c NGH001 Night Blindness 48 0.030
395
P PNC001 Pancytopenia 48 0.030
396
SLR001 Sialuria 48 0.030
397
KRT002 Keratomalacia 47 0.030
398
MYC020 Mycobacterium Tuberculosis, Susceptibility to Infection by 47 0.030
399
NNT020 Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 47 0.030
400
PRT038 Protein-Energy Malnutrition 47 0.030
401
c LKM060 Leukemia, Acute Lymphoblastic 3 47 0.030
402
c HPT073 Hepatitis C Virus 47 0.030
403
c VRL005 Viral Pneumonia 47 0.030
404
ADR021 Adrenocorticotropic Hormone Deficiency 46 0.030
405
GRN017 Granulocytopenia 46 0.030
406
P HPT031 Hepatocellular Carcinoma, Childhood 45 0.030
407
EVN001 Evans' Syndrome 45 0.030
408
RYN003 Reynolds Syndrome 45 0.030
409
DNR001 Duane Retraction Syndrome 45 0.030
410
SPN060 Spondylocarpotarsal Synostosis Syndrome 44 0.030
411
c CHL082 Cholestasis, Progressive Familial Intrahepatic 3 44 0.030
412
c PNC102 Pancreatitis, Chronic 44 0.030
413
c NMN005 Niemann-Pick Disease Type C2 44 0.030
414
PRS039 Prostate Adenocarcinoma 44 0.030
415
EPM005 Epimerase Deficiency Galactosemia 44 0.030
416
P CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 43 0.030
417
INF008 Infantile Refsum Disease 43 0.030
418
c HRD086 Hereditary Hypophosphatemic Rickets 43 0.030
419
QDR001 Quadriplegia 43 0.030
420
c CHR342 Chiari Malformation 43 0.030
421
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.030
422
CNG040 Congenital Erythropoietic Porphyria 42 0.030
423
P HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 42 0.030
424
EPD005 Epidural Abscess 42 0.030
425
c CNG003 Congenital Dyserythropoietic Anemia 42 0.030
426
P HRD013 Hereditary Fructose Intolerance Syndrome 41 0.030
427
CD4003 Cd40 Ligand Deficiency 41 0.030
428
HYP265 Hypotonia 40 0.030
429
P DPH016 Diaphragmatic Hernia 3 40 0.030
430
c CNG033 Congenital Syphilis 40 0.030
431
P DNS004 Duane Syndrome Type 2 40 0.030
432
ADR003 Adrenal Neuroblastoma 40 0.030
433
VTM001 Vitamin K Deficiency Hemorrhagic Disease 39 0.030
434
P INF131 Infant Acute Respiratory Distress Syndrome 39 0.030
435
c CNG045 Congenital Dyserythropoietic Anemia Type I 38 0.030
436
AMP010 Ampulla of Vater Carcinoma 38 0.030
437
VRL011 Viral Infectious Disease 38 0.030
438
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 38 0.030
439
LMB010 Lambert Syndrome 38 0.030
440
NRT005 North Carolina Macular Dystrophy 37 0.030
441
NWB001 Newborn Respiratory Distress Syndrome 37 0.030
442
VSC018 Visceral Steatosis 37 0.030
443
AMP009 Ampulla of Vater Adenocarcinoma 37 0.030
444
CTR003 Citrin Deficiency 37 0.030
445
IMM019 Immunodeficiency with Hyper Igm Type 1 36 0.030
446
c GLY011 Glycogen Storage Disease Vii 36 0.030
447
LYM024 Lymphatic System Disease 36 0.030
448
PNC041 Pancreatic Ductal Adenocarcinoma 35 0.030
449
c GLT023 Glutaric Acidemia Iic 35 0.030
450
LGH004 Light Chain Deposition Disease 35 0.030
451
RHS001 Rh Isoimmunization 34 0.030
452
P LNG038 Lung Small Cell Carcinoma 34 0.030
453
c MCR043 Microcephalic Osteodysplastic Primordial Dwarfism Type 1 34 0.030
454
MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 34 0.030
455
c CHL081 Cholestasis, Progressive Familial Intrahepatic 2 33 0.030
456
CRR007 Cirrhosis, Cryptogenic 33 0.030
457
PRQ002 Paraquat Poisoning 33 0.030
458
BLR004 Biliary Dyskinesia 33 0.030
459
IRN007 Irinotecan Toxicity 33 0.030
460
HPT063 Hepatitis B Virus Infection 33 0.030
461
CHL109 Childhood Apraxia of Speech 33 0.030
462
HPT012 Hepatocellular Fibrolamellar Carcinoma 33 0.030
463
CRR012 Cirrhotic Cardiomyopathy 33 0.030
464
SPS016 Spasmodic Dysphonia 33 0.030
465
PRX023 Paroxysmal Nocturnal Hemoglobinuria, Somatic 32 0.030
466
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 32 0.030
467
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 31 0.030
468
P TRC086 Trichohepatoenteric Syndrome 1 30 0.030
469
c BNG044 Benign Recurrent Intrahepatic Cholestasis 2 28 0.030
470
c CNG205 Congenital Disorder of Glycosylation, Type Ij 28 0.030
471
c DYS155 Dyserythropoietic Anemia, Congenital, Type Ib 28 0.030
472
IRN002 Iron Metabolism Disease 27 0.030
473
BLC009 Bile Acid Synthesis Defect, Congenital, 4 27 0.030
474
c CNG090 Congenital Dyserythropoietic Anemia Type 3 27 0.030
475
GLC010 Galactokinase Deficiency with Cataracts 27 0.030
476
RHB020 Rhabdomyosarcoma, Somatic 27 0.030
477
ANM009 Anemia, Hemolytic, Rh-Null, Regulator Type 26 0.030
478
ATR015 Atresia of Small Intestine 26 0.030
479
PLM049 Plummer Vinson Syndrome 26 0.030
480
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 25 0.030
481
APP009 Appendix Adenocarcinoma 25 0.030
482
OVR047 Ovarian Cystadenocarcinoma 25 0.030
483
TCK004 Tick Infestation 25 0.030
484
BLC008 Bile Acid Synthesis Defect, Congenital, 2 24 0.030
485
c GLY043 Glycogen Storage Disease Xii 24 0.030
486
DHY014 Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 24 0.030
487
ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 24 0.030
488
PTT020 Pituitary Hormone Deficiency, Combined 1 24 0.030
489
END035 Endocrine Gland Cancer 24 0.030
490
PHT003 Phototoxic Dermatitis 23 0.030
491
GRD004 Gardner-Diamond Syndrome 23 0.030
492
P GLL024 Gallbladder Disease 1 23 0.030
493
PYL004 Pyelitis 23 0.030
494
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 23 0.030
495
TCK002 Tick Paralysis 22 0.030
496
BLC011 Bile Acid Synthesis Defect, Congenital, 3 22 0.030
497
BLD063 Bile Duct Cysts 22 0.030
498
PRX034 Peroxisome Disorders 22 0.030
499
MTC063 Mitochondrial Dna Depletion Syndrome 3 21 0.030
500
MRG001 Morgagni Cataract 21 0.030
501
AND005 Androgen Insensitivity Syndrome, Mild 21 0.030
502
EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 20 0.030
503
HRD037 Hardikar Syndrome 20 0.030
504
c BNG043 Benign Recurrent Intrahepatic Cholestasis 1 20 0.030
505
HML012 Hemolytic Anemia Due to Hexokinase Deficiency 19 0.030
506
LTM001 Lutembacher's Syndrome 19 0.030
507
CRT011 Carotenemia 19 0.030
508
c RSP007 Respiratory Distress Syndrome, Infant 18 0.030
509
ANP010 Anaplastic Plasmacytoma 18 0.030
510
LTT006 Littoral Cell Angioma of the Spleen 18 0.030
511
CHR076 Choriocarcinoma of the Testis 18 0.030
512
OPT010 Optic Papillitis 18 0.030
513
c PRX059 Peroxisome Biogenesis Disorder 1a 18 0.030
514
ESN014 Eosinophilic Enteropathy 17 0.030
515
c PRX063 Peroxisome Biogenesis Disorder 2a 17 0.030
516
CYN002 Cyanosis, Transient Neonatal 17 0.030
517
c ELL006 Elliptocytosis 3 16 0.030
518
ERY044 Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency 16 0.030
519
c DYS156 Dyserythropoietic Anemia, Congenital, Type Ia 16 0.030
520
XLN139 X-Linked Intellectual Disability - Macrocephaly - Macroorchidism 16 0.030
521
WRM004 Warm Antibody Hemolytic Anemia 15 0.030
522
c ATM064 Autoimmune Pancreatitis Type 1 15 0.030
523
EDN001 Edinburgh Malformation Syndrome 15 0.030
524
c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 13 0.030
525
c ASP010 Asphyxiating Thoracic Dystrophy 1 11 0.030
526
CHR058 Chronic Congestive Splenomegaly 9 0.030
527
NRF015 Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 9 0.030