Search results for [Lys8]-Vasopressin

21573 hits were found for [Lys8]-Vasopressin

# Family MCID Name MIFTS Score
1
ESP021 Esophageal Cancer 90 1.000
3
P PNC035 Pancreatic Cancer 86 1.000
4
P GST053 Gastric Cancer 85 1.000
5
c LKM061 Leukemia, Acute Myeloid 84 1.000
6
P ATX030 Ataxia-Telangiectasia 83 1.000
7
NRL016 Neural Tube Defects 83 1.000
8
P RHM011 Rheumatoid Arthritis 82 1.000
9
c LKM071 Leukemia, Chronic Lymphocytic 81 1.000
10
P RTT002 Rett Syndrome 81 1.000
11
c FNC027 Fanconi Anemia, Complementation Group a 81 1.000
12
PFF001 Pfeiffer Syndrome 79 1.000
13
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.000
14
P OST002 Osteoporosis 79 1.000
15
P LNG064 Lung Cancer Susceptibility 3 79 1.000
16
P MDL005 Medulloblastoma 78 1.000
17
P RTN008 Retinitis Pigmentosa 77 1.000
18
P LYN001 Lynch Syndrome 77 1.000
19
CRV035 Cervical Cancer 77 1.000
20
PLM134 Pulmonary Fibrosis, Idiopathic 77 1.000
21
P NRF023 Neurofibromatosis, Type Ii 77 1.000
22
GST019 Gastrointestinal Stromal Tumor 76 1.000
23
c CWD006 Cowden Syndrome 1 76 1.000
24
P NNN008 Noonan Syndrome 1 76 1.000
25
P APL001 Aplastic Anemia 76 1.000
26
c ART115 Aortic Valve Disease 1 76 1.000
27
KPS004 Kaposi Sarcoma 75 1.000
28
MRF001 Marfan Syndrome 75 1.000
29
RNL065 Renal Cell Carcinoma, Papillary, 1 75 1.000
30
END057 Endometrial Cancer 74 1.000
31
SVR004 Severe Combined Immunodeficiency 74 1.000
32
c HPT073 Hepatitis C Virus 74 1.000
33
ACR006 Aceruloplasminemia 74 1.000
34
P RTN024 Retinoblastoma 74 1.000
35
LYM143 Lymphoma, Non-Hodgkin, Familial 74 1.000
36
c TBR025 Tuberous Sclerosis 1 74 1.000
37
c ATM006 Autoimmune Lymphoproliferative Syndrome 73 1.000
38
P MLT020 Multiple Sclerosis 73 1.000
39
P FML011 Familial Adenomatous Polyposis 73 1.000
40
c BTT014 Beta-Thalassemia 73 1.000
41
VNH007 Von Hippel-Lindau Syndrome 73 1.000
42
XRD010 Xeroderma Pigmentosum, Variant Type 72 1.000
43
P TBR001 Tuberous Sclerosis 72 1.000
44
ADR007 Adrenoleukodystrophy 72 1.000
45
c NRF024 Neurofibromatosis, Type I 72 1.000
46
MYL009 Myelodysplastic Syndrome 72 1.000
47
P JBR020 Joubert Syndrome 1 72 1.000
48
LPT014 Leptin Deficiency or Dysfunction 72 1.000
49
c MLT156 Multiple Endocrine Neoplasia, Type I 71 1.000
50
P WSK001 Wiskott-Aldrich Syndrome 71 1.000
51
P GRF003 Graft-Versus-Host Disease 71 1.000
52
ADN011 Adenoid Cystic Carcinoma 71 1.000
53
P LFR001 Li-Fraumeni Syndrome 71 1.000
54
P AMY004 Amyloidosis 71 1.000
55
AGM019 Agammaglobulinemia, X-Linked 71 1.000
56
LPD012 Lipoid Congenital Adrenal Hyperplasia 71 1.000
57
P ART022 Arthritis 71 1.000
58
BRT054 Brittle Bone Disorder 71 1.000
59
c FML346 Familial Adenomatous Polyposis 1 71 1.000
60
P NJM001 Nijmegen Breakage Syndrome 70 1.000
61
P BRG001 Brugada Syndrome 70 1.000
62
c PRM196 Premature Ovarian Failure 1 70 1.000
63
MSC157 Muscular Dystrophy, Duchenne Type 70 1.000
64
P ALG028 Alagille Syndrome 1 70 1.000
65
BSL036 Basal Cell Nevus Syndrome 70 1.000
66
PTZ001 Peutz-Jeghers Syndrome 70 1.000
67
PLY001 Polycythemia Vera 70 1.000
68
P FML018 Familial Mediterranean Fever 70 1.000
69
MCC012 Mccune-Albright Syndrome 70 1.000
70
CNT097 Central Hypoventilation Syndrome, Congenital 70 1.000
71
LYM133 Lymphoma, Hodgkin, Classic 70 1.000
72
c PNC108 Pancreatitis, Hereditary 70 1.000
73
BHC003 Behcet Syndrome 70 1.000
74
APR006 Apert Syndrome 70 1.000
75
P LYM118 Lymphoma 70 1.000
76
P OST001 Osteopetrosis 70 1.000
77
c WLM013 Wilms Tumor 1 69 1.000
78
WLS001 Wilson Disease 69 1.000
79
P CRN037 Craniosynostosis 69 1.000
80
P HYP802 Hypocalcemia, Autosomal Dominant 1 69 1.000
81
P MLN066 Melanoma, Cutaneous Malignant 1 69 1.000
82
c TBR026 Tuberous Sclerosis 2 69 1.000
83
MNT001 Mantle Cell Lymphoma 69 1.000
84
P DMN001 Diamond-Blackfan Anemia 69 1.000
85
P MYC084 Mycobacterium Tuberculosis 1 69 1.000
86
P INF038 Influenza 69 1.000
87
LGH007 Leigh Syndrome 69 1.000
88
P ESS003 Essential Thrombocythemia 69 1.000
89
c MLT160 Multiple Endocrine Neoplasia, Type Iia 69 1.000
90
P CHR012 Chronic Granulomatous Disease 69 1.000
91
EWN003 Ewing Sarcoma 69 1.000
92
P MTC003 Metachromatic Leukodystrophy 69 1.000
93
KRT019 Keratitis, Hereditary 69 1.000
94
MYL005 Myelofibrosis 69 1.000
95
PNC129 Pancreatic Adenocarcinoma 69 1.000
96
CMM004 Common Variable Immunodeficiency 69 1.000
97
c JVN004 Juvenile Myelomonocytic Leukemia 68 1.000
98
P LNG028 Long Qt Syndrome 68 1.000
99
P SYS005 Systemic Scleroderma 68 1.000
100
P TMP003 Temporal Arteritis 68 1.000
101
CHL065 Cholangiocarcinoma 68 1.000
102
P CRD224 Cardiofaciocutaneous Syndrome 1 68 1.000
103
c MYT021 Myotonic Dystrophy 1 68 1.000
104
P PLR004 Pleuropulmonary Blastoma 68 1.000
105
P MYS003 Myasthenia Gravis 68 1.000
106
P KRB001 Krabbe Disease 68 1.000
107
P HYP061 Hypertrophic Cardiomyopathy 68 1.000
108
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68 1.000
109
P TYS001 Tay-Sachs Disease 68 1.000
110
WRN001 Werner Syndrome 68 1.000
111
CNN005 Connective Tissue Disease 68 1.000
112
BRK010 Burkitt Lymphoma 68 1.000
113
CHD001 Chediak-Higashi Syndrome 68 1.000
114
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68 1.000
115
ABT001 Abetalipoproteinemia 68 1.000
116
P GLM040 Glioma Susceptibility 1 68 1.000
117
P MPL001 Maple Syrup Urine Disease 68 1.000
118
P SPR120 Supranuclear Palsy, Progressive, 1 68 1.000
119
SKN019 Skin Melanoma 68 1.000
120
MLN008 Melanoma 68 1.000
121
ADR054 Adrenocortical Carcinoma, Hereditary 68 1.000
122
SCH036 Scheie Syndrome 68 1.000
123
P HMP002 Hemophagocytic Lymphohistiocytosis 68 1.000
124
c GLY008 Glycogen Storage Disease Ii 68 1.000
125
c BSL007 Basal Cell Carcinoma 68 1.000
126
CRP001 Carpal Tunnel Syndrome 68 1.000
127
P DRM053 Dermatitis, Atopic 68 1.000
128
P MCR115 Microvascular Complications of Diabetes 5 67 1.000
129
c JVN010 Juvenile Rheumatoid Arthritis 67 1.000
130
CRT072 Creutzfeldt-Jakob Disease 67 1.000
131
c HML033 Hemolytic Uremic Syndrome, Atypical 1 67 1.000
132
P NSP012 Nasopharyngeal Carcinoma 67 1.000
133
P LPR021 Leprosy 3 67 1.000
134
c HRD010 Hereditary Spastic Paraplegia 67 1.000
135
P PRM011 Primary Ciliary Dyskinesia 67 1.000
136
CRZ001 Crouzon Syndrome 67 1.000
137
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 67 1.000
138
SRC014 Sarcoma 67 1.000
139
SMT004 Smith-Lemli-Opitz Syndrome 67 1.000
140
LYM007 Lymphangioleiomyomatosis 67 1.000
141
P PSD087 Pseudoxanthoma Elasticum 67 1.000
142
P CNJ013 Conjunctivitis 67 1.000
143
P LBR001 Leber Congenital Amaurosis 67 1.000
144
P OLG002 Oligodendroglioma 67 1.000
145
PRT010 Parathyroid Carcinoma 67 1.000
146
c MCL062 Mucolipidosis Ii Alpha/beta 67 1.000
147
P ASP006 Aspergillosis 67 1.000
148
c FML021 Familial Hypercholesterolemia 67 1.000
149
P FLL037 Follicular Lymphoma 67 1.000
150
CLF027 Cleft Palate, Isolated 67 1.000
151
c PRD013 Periodic Fever, Familial, Autosomal Dominant 67 1.000
152
BRR014 Barrett Esophagus 67 1.000
153
c NMN015 Niemann-Pick Disease, Type C1 67 1.000
154
MYC006 Mycosis Fungoides 67 1.000
155
GST040 Gastric Adenocarcinoma 67 1.000
156
P CLC063 Celiac Disease 1 66 1.000
157
STH001 Saethre-Chotzen Syndrome 66 1.000
158
GLL008 Gilles De La Tourette Syndrome 66 1.000
159
P MTR004 Maturity-Onset Diabetes of the Young 66 1.000
160
c CNG411 Congenital Disorder of Glycosylation, Type in 66 1.000
161
P AGM001 Agammaglobulinemia 66 1.000
162
GLN010 Glanzmann Thrombasthenia 66 1.000
163
UND005 Undifferentiated Pleomorphic Sarcoma 66 1.000
164
c HMP004 Hemophilia B 66 1.000
165
P PLM036 Pulmonary Fibrosis 66 1.000
166
P PRP003 Porphyria Cutanea Tarda 66 1.000
167
P BLD062 Bile Duct Cancer 66 1.000
168
MLD001 Melioidosis 66 1.000
169
SVR097 Severe Cutaneous Adverse Reaction 66 1.000
170
AND002 Androgen Insensitivity Syndrome 66 1.000
171
P BRL012 Bare Lymphocyte Syndrome, Type Ii 66 1.000
172
OMN001 Omenn Syndrome 66 1.000
173
CHG001 Chagas Disease 66 1.000
174
NVS017 Nevus, Epidermal 66 1.000
175
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66 1.000
176
MYL031 Myeloproliferative Neoplasm 66 1.000
177
c LNG044 Long Qt Syndrome 1 66 1.000
178
P HRP006 Herpes Simplex 66 1.000
179
P ALP004 Alport Syndrome 66 1.000
180
P BRD002 Bardet-Biedl Syndrome 66 1.000
181
P CWD010 Cowden Syndrome 66 1.000
182
P PRD008 Periodontitis 66 1.000
183
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.000
184
INC002 Inclusion Body Myositis 66 1.000
185
LNG039 Lung Squamous Cell Carcinoma 66 1.000
186
DMN031 Dementia, Lewy Body 66 1.000
187
ACH004 Achondroplasia 66 1.000
188
P CCK001 Cockayne Syndrome 66 1.000
189
c INF071 Inflammatory Bowel Disease 1 66 1.000
191
MSM014 Mismatch Repair Cancer Syndrome 65 1.000
192
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 65 1.000
193
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65 1.000
194
CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 65 1.000
195
NRF026 Neurofibromatosis, Type Iv, of Riccardi 65 1.000
196
P DYS154 Dystonia 65 1.000
197
P OCL013 Oculodentodigital Dysplasia 65 1.000
198
P SPN046 Spinal Muscular Atrophy 65 1.000
199
P ANG001 Angelman Syndrome 65 1.000
200
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 65 1.000
201
FML089 Familial Thoracic Aortic Aneurysm and Dissection 65 1.000
202
WLF001 Wolff-Parkinson-White Syndrome 65 1.000
203
c ATS013 Autosomal Recessive Congenital Ichthyosis 65 1.000
204
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65 1.000
205
P HRS035 Hirschsprung Disease 1 65 1.000
206
P CRB048 Cerebral Cavernous Malformations 65 1.000
207
c GCH015 Gaucher Disease, Type I 65 1.000
208
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 1.000
209
SND001 Sandhoff Disease 65 1.000
210
MST024 Mastocytosis, Cutaneous 65 1.000
211
OST017 Osteomyelitis 65 1.000
212
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65 1.000
213
P FRD012 Friedreich Ataxia 1 65 1.000
214
P CHR071 Charcot-Marie-Tooth Disease 65 1.000
215
c GST103 Gastric Cancer, Hereditary Diffuse 65 1.000
216
IDP011 Idiopathic Interstitial Pneumonia 65 1.000
217
P LYS001 Loeys-Dietz Syndrome 65 1.000
218
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 65 1.000
219
MGK001 Megakaryocytic Leukemia 65 1.000
220
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65 1.000
221
BLM001 Bloom Syndrome 65 1.000
222
KWS002 Kawasaki Disease 65 1.000
223
FBR011 Fibrodysplasia Ossificans Progressiva 65 1.000
224
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 65 1.000
225
FCT007 Factor Vii Deficiency 65 1.000
226
IRR002 Irritable Bowel Syndrome 65 1.000
227
CLN015 Colon Adenocarcinoma 65 1.000
228
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 1.000
229
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 64 1.000
230
P DYS007 Dyskeratosis Congenita 64 1.000
231
INT146 Intervertebral Disc Disease 64 1.000
232
P PRP019 Peripheral Nervous System Disease 64 1.000
233
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 64 1.000
234
CLR108 Colorectal Adenoma 64 1.000
235
CST001 Costello Syndrome 64 1.000
236
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 64 1.000
237
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 1.000
238
TNG002 Tangier Disease 64 1.000
239
MYX005 Myxoid Liposarcoma 64 1.000
240
P JVN014 Juvenile Polyposis Syndrome 64 1.000
241
LYM017 Lyme Disease 64 1.000
242
c MCP001 Mucopolysaccharidosis Iii 64 1.000
243
P HRD008 Hereditary Hemorrhagic Telangiectasia 64 1.000
244
LKC009 Leukocyte Adhesion Deficiency, Type I 64 1.000
245
KRN002 Kearns-Sayre Syndrome 64 1.000
246
END041 Endometrial Adenocarcinoma 64 1.000
247
P THY023 Thymoma 64 1.000
248
SKN016 Skin Disease 64 1.000
249
P KBK002 Kabuki Syndrome 1 64 1.000
250
CNT061 Conotruncal Heart Malformations 64 1.000
251
HTC003 Hutchinson-Gilford Progeria Syndrome 64 1.000
252
P KLL001 Kallmann Syndrome 64 1.000
253
HMT002 Hematologic Cancer 64 1.000
254
P LPR002 Leopard Syndrome 64 1.000
255
FLL027 Fallopian Tube Carcinoma 64 1.000
256
P MCK013 Meckel Syndrome, Type 1 64 1.000
257
LSH001 Leishmaniasis 64 1.000
258
P TRC102 Trichothiodystrophy 1, Photosensitive 64 1.000
259
P ENC004 Encephalitis 64 1.000
260
P CMP005 Campomelic Dysplasia 64 1.000
261
P NTR004 Neutropenia 64 1.000
262
P ANR048 Aniridia 1 64 1.000
263
CNC002 Cinca Syndrome 63 1.000
264
LWC002 Lowe Oculocerebrorenal Syndrome 63 1.000
265
P TST021 Testicular Germ Cell Tumor 63 1.000
266
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 63 1.000
267
DRM006 Dermatitis 63 1.000
268
P GCH001 Gaucher's Disease 63 1.000
269
NRF007 Neurofibroma 63 1.000
270
KHL003 Kohlschutter-Tonz Syndrome 63 1.000
271
P PSR002 Psoriasis 63 1.000
272
P ART005 Arteriovenous Malformation 63 1.000
273
HSH003 Hashimoto Thyroiditis 63 1.000
274
P CNG001 Congenital Myasthenic Syndrome 63 1.000
275
GT001 Gout 63 1.000
276
DRM014 Dermatofibrosarcoma Protuberans 63 1.000
277
ACT119 Acute Promyelocytic Leukemia 63 1.000
278
c ATM011 Autoimmune Hepatitis 63 1.000
279
PRP001 Propionic Acidemia 63 1.000
280
PSR001 Psoriatic Arthritis 63 1.000
281
BLL006 Bullous Pemphigoid 63 1.000
282
c ALP101 Alpha-Thalassemia 63 1.000
283
P NRN021 Neuronal Ceroid Lipofuscinosis 63 1.000
284
P MYP004 Myopathy 63 1.000
285
NRR002 Norrie Disease 63 1.000
286
c MCP050 Mucopolysaccharidosis, Type Ii 63 1.000
287
P MVM001 Movement Disease 63 1.000
288
c GLC092 Glaucoma, Primary Open Angle 63 1.000
289
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 63 1.000
290
PCK003 Pick Disease of Brain 63 1.000
291
c GLY060 Glycogen Storage Disease Ia 63 1.000
292
P END044 Endometriosis 63 1.000
293
CHY002 Chylomicron Retention Disease 63 1.000
294
P ACR001 Aicardi-Goutieres Syndrome 63 1.000
295
P TRC072 Treacher Collins Syndrome 1 63 1.000
296
LYS012 Lysosomal Acid Lipase Deficiency 63 1.000
297
P CRN038 Carney Complex Variant 63 1.000
298
c SYS004 Systemic Mastocytosis 63 1.000
299
GLC006 Galactosemia 63 1.000
300
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 63 1.000
301
ALP103 Alpha-1-Antitrypsin Deficiency 63 1.000
302
P PLZ001 Pelizaeus-Merzbacher Disease 63 1.000
303
c MNN047 Mannosidosis, Alpha B, Lysosomal 63 1.000
304
P FCL005 Focal Segmental Glomerulosclerosis 63 1.000
305
MCR013 Microphthalmia 62 1.000
306
P RHB003 Rhabdomyosarcoma 62 1.000
307
P EPL140 Epilepsy, Idiopathic Generalized 62 1.000
308
SVR066 Severe Combined Immunodeficiency, X-Linked 62 1.000
309
INC021 Incontinentia Pigmenti 62 1.000
310
MNK001 Menkes Disease 62 1.000
311
BRT002 Birt-Hogg-Dube Syndrome 62 1.000
312
P MST009 Mastocytosis 62 1.000
313
c PRG042 Progressive Familial Heart Block, Type Ia 62 1.000
314
BLD131 Bladder Urothelial Carcinoma 62 1.000
315
TTH002 Tooth Agenesis 62 1.000
316
P EPL198 Epilepsy, Myoclonic Juvenile 62 1.000
317
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62 1.000
318
RTH001 Rothmund-Thomson Syndrome 62 1.000
319
P HYP370 Hypokalemic Periodic Paralysis, Type 1 62 1.000
320
P HMN010 Hemangioma 62 1.000
321
OST003 Osteonecrosis 62 1.000
322
BDD001 Budd-Chiari Syndrome 62 1.000
323
GRN037 Granulomatosis with Polyangiitis 62 1.000
324
P EPD009 Epidermolysis Bullosa Dystrophica 62 1.000
325
LYM012 Lymphoplasmacytic Lymphoma 62 1.000
326
P LPS002 Liposarcoma 62 1.000
327
P HYP750 Hypertriglyceridemia, Familial 62 1.000
328
PLL001 Pallister-Hall Syndrome 62 1.000
329
RFS006 Refsum Disease, Classic 62 1.000
330
P THL005 Thalassemia 62 1.000
331
MRK001 Merkel Cell Carcinoma 62 1.000
332
NRM005 Neuromuscular Disease 62 1.000
333
P ESP024 Esophagitis 62 1.000
334
c AFB002 Afibrinogenemia, Congenital 62 1.000
335
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 62 1.000
336
HLT001 Holt-Oram Syndrome 62 1.000
337
VRL011 Viral Infectious Disease 62 1.000
338
BRC012 Brucellosis 62 1.000
339
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 62 1.000
340
GTL001 Gitelman Syndrome 62 1.000
341
P CLD001 Cleidocranial Dysplasia 62 1.000
342
P SNS001 Sensorineural Hearing Loss 62 1.000
343
CHR103 Charge Syndrome 62 1.000
344
P LYM033 Lymphoproliferative Syndrome 62 1.000
345
P ART067 Aortic Aneurysm, Familial Thoracic 1 62 1.000
346
LRN002 Laron Syndrome 62 1.000
347
P BCK002 Beckwith-Wiedemann Syndrome 62 1.000
348
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 62 1.000
349
ELL001 Ellis-Van Creveld Syndrome 62 1.000
350
P MCP040 Mucopolysaccharidosis-Plus Syndrome 62 1.000
351
RTN017 Retinal Detachment 62 1.000
352
CTR172 Citrullinemia, Classic 62 1.000
353
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 1.000
354
ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 62 1.000
355
WLK001 Walker-Warburg Syndrome 62 1.000
356
ACN002 Acanthosis Nigricans 62 1.000
357
ORL011 Oral Cancer 62 1.000
358
c SCL052 Scleroderma, Familial Progressive 62 1.000
359
c GLY003 Glycogen Storage Disease Iii 62 1.000
360
RHB001 Rhabdoid Cancer 62 1.000
361
P ANP001 Anaplastic Large Cell Lymphoma 62 1.000
362
OSS012 Osseous Heteroplasia, Progressive 62 1.000
363
c HYD046 Hydatidiform Mole, Recurrent, 1 62 1.000
364
THY121 Thyroid Gland Anaplastic Carcinoma 62 1.000
365
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62 1.000
366
GRG001 Greig Cephalopolysyndactyly Syndrome 61 1.000
367
DGR001 Digeorge Syndrome 61 1.000
368
DBT083 Diabetes Mellitus, Permanent Neonatal 61 1.000
369
SDD001 Sudden Infant Death Syndrome 61 1.000
370
P ALP009 Alopecia Areata 61 1.000
371
P CRG003 Crigler-Najjar Syndrome, Type I 61 1.000
372
CRB011 Cerebrotendinous Xanthomatosis 61 1.000
373
INT066 Interstitial Lung Disease 61 1.000
374
c DNG003 Dengue Disease 61 1.000
375
WST001 West Syndrome 61 1.000
376
LKD001 Leukodystrophy 61 1.000
377
NRM019 Neuraminidase Deficiency 61 1.000
378
P DST002 Distal Arthrogryposis 61 1.000
379
c THR082 Thrombophilia Due to Activated Protein C Resistance 61 1.000
380
MLT163 Multiple Pterygium Syndrome, Escobar Variant 61 1.000
381
c PRX045 Peroxisome Biogenesis Disorder 1b 61 1.000
382
c MCP047 Mucopolysaccharidosis, Type Iva 61 1.000
383
CTN007 Cutaneous Leishmaniasis 61 1.000
384
c LYN004 Lynch Syndrome I 61 1.000
385
P HYP097 Hyperekplexia 61 1.000
386
ODN023 Odontochondrodysplasia 61 1.000
387
LBR030 Leber Optic Atrophy 61 1.000
388
P SHW006 Shwachman-Diamond Syndrome 1 61 1.000
389
CNT105 Central Core Disease of Muscle 61 1.000
390
c LCL006 Localized Scleroderma 61 1.000
391
c MCP052 Mucopolysaccharidosis, Type Vi 61 1.000
392
P BCL017 B-Cell Lymphoma 61 1.000
393
PRM126 Primary Peritoneal Carcinoma 61 1.000
394
P PLV020 Pelvic Organ Prolapse 61 1.000
396
P MYL006 Myeloid Leukemia 61 1.000
397
P EPN002 Ependymoma 61 1.000
398
c NMN016 Niemann-Pick Disease, Type B 61 1.000
399
MSL001 Measles 61 1.000
400
P ATR010 Atrial Heart Septal Defect 61 1.000
401
DSM004 Desmoid Tumor 61 1.000
402
IGR001 Ige Responsiveness, Atopic 61 1.000
403
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 61 1.000
404
LCR014 Lacrimoauriculodentodigital Syndrome 61 1.000
405
THR100 Thrombocytopenic Purpura, Autoimmune 61 1.000
406
MCK007 Muckle-Wells Syndrome 61 1.000
407
TKY002 Takayasu Arteritis 61 1.000
408
P ACH003 Achromatopsia 61 1.000
409
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 61 1.000
410
HLC007 Helicobacter Pylori Infection 61 1.000
411
VTR013 Vitreoretinopathy, Neovascular Inflammatory 61 1.000
412
c BRD010 Bardet-Biedl Syndrome 1 61 1.000
413
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 1.000
414
c TYR012 Tyrosinemia, Type I 61 1.000
415
DPH001 Diphtheria 61 1.000
416
P CND004 Candidiasis 61 1.000
417
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 61 1.000
418
P PNL012 Penile Cancer 61 1.000
419
RBR001 Roberts Syndrome 61 1.000
420
c ANM038 Anemia, Autoimmune Hemolytic 61 1.000
421
P RNL100 Renal Hypodysplasia/aplasia 1 61 1.000
422
GLY010 Glycine Encephalopathy 61 1.000
423
BLS001 Blau Syndrome 61 1.000
424
SPP011 Suppression of Tumorigenicity 12 61 1.000
425
LSC001 Lesch-Nyhan Syndrome 61 1.000
426
CHR619 Chromosome 2q35 Duplication Syndrome 61 1.000
427
P CRN015 Cornelia De Lange Syndrome 60 1.000
428
DRR014 Darier-White Disease 60 1.000
429
P CHR285 Chronic Myelomonocytic Leukemia 60 1.000
430
P NMN002 Niemann-Pick Disease 60 1.000
431
IMM174 Immunodeficiency with Hyper-Igm, Type 1 60 1.000
432
GNG013 Gingivitis 60 1.000
433
LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60 1.000
434
CHL067 Cholecystitis 60 1.000
435
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 60 1.000
436
P CRB101 Cerebrooculofacioskeletal Syndrome 1 60 1.000
437
SPT006 Septooptic Dysplasia 60 1.000
438
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 60 1.000
439
ART001 Arterial Tortuosity Syndrome 60 1.000
440
P EPS003 Episodic Ataxia 60 1.000
441
CHL123 Chlamydia 60 1.000
442
CRT002 Cartilage-Hair Hypoplasia 60 1.000
443
CHR072 Chordoma 60 1.000
444
PNM010 Pneumothorax, Primary Spontaneous 60 1.000
445
c LPM012 Lipomatosis, Multiple 60 1.000
446
P BRN022 Bronchiectasis 60 1.000
447
ALS001 Alstrom Syndrome 60 1.000
448
P CHL002 Childhood Absence Epilepsy 60 1.000
449
P PRM002 Primary Hyperoxaluria 60 1.000
450
ALC006 Alcoholic Hepatitis 60 1.000
451
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60 1.000
452
FBR047 Fibromyalgia 60 1.000
453
P DNT020 Dent Disease 1 60 1.000
454
LGG001 Legg-Calve-Perthes Disease 60 1.000
455
P CTS001 Cutis Laxa 60 1.000
456
LGN002 Legionellosis 60 1.000
457
ART141 Arteriovenous Malformations of the Brain 60 1.000
458
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 60 1.000
459
ATY005 Atypical Teratoid Rhabdoid Tumor 60 1.000
460
P CRN108 Cranioectodermal Dysplasia 1 60 1.000
461
BND020 Bone Disease 60 1.000
462
STF001 Stiff-Person Syndrome 60 1.000
463
P WRD001 Waardenburg's Syndrome 60 1.000
464
HYP458 Hyper Ige Syndrome 60 1.000
465
PTR032 Peters-Plus Syndrome 60 1.000
466
c MCP049 Mucopolysaccharidosis, Type Vii 60 1.000
467
FBR086 Fibrolamellar Carcinoma 60 1.000
468
MSC152 Muscular Dystrophy, Becker Type 60 1.000
469
c LPD015 Lipodystrophy, Familial Partial, Type 2 60 1.000
470
P EHL001 Ehlers-Danlos Syndrome 60 1.000
471
ERL001 Early Myoclonic Encephalopathy 60 1.000
472
P NRM001 Neuromyelitis Optica 60 1.000
473
HYP810 Hypereosinophilic Syndrome, Idiopathic 60 1.000
474
c GLY004 Glycogen Storage Disease V 60 1.000
475
FND001 Fundus Albipunctatus 60 1.000
476
PND002 Pendred Syndrome 60 1.000
477
SRC027 Sarcoma, Synovial 60 1.000
478
P GLL020 Gallbladder Disease 60 1.000
479
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 60 1.000
480
MYC079 Myoclonic Epilepsy of Lafora 60 1.000
481
P ERL057 Early Infantile Epileptic Encephalopathy 60 1.000
482
P OST009 Osteochondritis Dissecans 60 1.000
483
P INT070 Intestinal Obstruction 60 1.000
484
P ERY058 Erythrocytosis, Familial, 1 60 1.000
485
UTR024 Uterine Carcinosarcoma 60 1.000
486
c MLT159 Multiple Endocrine Neoplasia, Type Iib 60 1.000
487
c DWL002 Dowling-Degos Disease 1 59 1.000
488
ARG002 Argininosuccinic Aciduria 59 1.000
489
c ADL017 Adult T-Cell Leukemia 59 1.000
490
THY122 Thyroid Gland Cancer 59 1.000
491
P THN009 Thanatophoric Dysplasia, Type I 59 1.000
492
RNL024 Renal Glucosuria 59 1.000
493
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 59 1.000
494
c ALB021 Albinism, Oculocutaneous, Type Ii 59 1.000
495
c THY102 Thyroid Cancer, Nonmedullary, 2 59 1.000
496
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59 1.000
497
P MLT074 Multiple Endocrine Neoplasia 59 1.000
498
P HRD011 Hereditary Spherocytosis 59 1.000
499
EYD002 Eye Disease 59 1.000
500
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 59 1.000
501
GRD007 Grade Iii Astrocytoma 59 1.000
502
HJD001 Hajdu-Cheney Syndrome 59 1.000
503
FCL081 Focal Cortical Dysplasia, Type Ii 59 1.000
504
P GLY013 Glycogen Storage Disease 59 1.000
505
P BRS044 Breast Adenocarcinoma 59 1.000
506
FCT002 Factor Xi Deficiency 59 1.000
507
c CLR131 Ciliary Dyskinesia, Primary, 1 59 1.000
508
DNG002 Dengue Hemorrhagic Fever 59 1.000
509
ANG020 Angiosarcoma 59 1.000
510
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59 1.000
511
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 59 1.000
512
c USH036 Usher Syndrome, Type I 59 1.000
513
CHR063 Chronic Mucocutaneous Candidiasis 59 1.000
514
c PRG047 Progressive Familial Intrahepatic Cholestasis 59 1.000
515
P EMR001 Emery-Dreifuss Muscular Dystrophy 59 1.000
516
SZR001 Sezary's Disease 59 1.000
517
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59 1.000
518
c GCH016 Gaucher Disease, Type Ii 59 1.000
519
END081 Endosteal Hyperostosis, Autosomal Dominant 59 1.000
520
P MCR256 Microphthalmia, Syndromic 9 59 1.000
521
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 59 1.000
522
P PGT001 Paget's Disease of Bone 59 1.000
523
P STR022 Stargardt Disease 59 1.000
524
CLS005 Clouston Syndrome 59 1.000
525
BLL001 Baller-Gerold Syndrome 59 1.000
526
P MLN069 Melanoma, Uveal 59 1.000
527
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 1.000
528
c SVR003 Severe Congenital Neutropenia 59 1.000
529
c PTT056 Pituitary Adenoma 1, Multiple Types 59 1.000
530
P EPD083 Epidermodysplasia Verruciformis 1 59 1.000
531
SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 59 1.000
532
c ORF037 Orofaciodigital Syndrome I 59 1.000
533
c PRT132 Protoporphyria, Erythropoietic, 1 59 1.000
534
P CFF008 Coffin-Siris Syndrome 1 59 1.000
535
DNH001 Donohue Syndrome 59 1.000
536
P OST135 Osteogenesis Imperfecta, Type I 59 1.000
537
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 59 1.000
538
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59 1.000
540
P SYP003 Syphilis 59 1.000
541
c CHL119 Cholangitis, Primary Sclerosing 59 1.000
542
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59 1.000
543
NTH001 Netherton Syndrome 59 1.000
544
HYP052 Hyperkalemic Periodic Paralysis 59 1.000
545
OCL009 Ocular Cancer 59 1.000
546
ADL030 Adult-Onset Still's Disease 59 1.000
547
c GM1007 Gm1 Gangliosidosis 59 1.000
548
IRN001 Iron Deficiency Anemia 59 1.000
549
P MTR012 Mitral Valve Disease 59 1.000
550
c MST023 Mesothelioma, Malignant 59 1.000
551
P LRY044 Larynx Cancer 59 1.000
552
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 59 1.000
553
c EPS035 Episodic Ataxia, Type 2 58 1.000
554
OBS525 Obsolete: Squamous Cell Carcinoma of Head and Neck 58 1.000
555
HDR002 Hidradenitis Suppurativa 58 1.000
556
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 58 1.000
557
PSD021 Pseudovaginal Perineoscrotal Hypospadias 58 1.000
558
STS003 Sitosterolemia 58 1.000
559
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58 1.000
560
MRT001 Muir-Torre Syndrome 58 1.000
561
P PLY006 Polydactyly 58 1.000
562
P UVT001 Uveitis 58 1.000
563
SPN027 Spinal Stenosis 58 1.000
564
ADR005 Adrenal Carcinoma 58 1.000
565
P HYP035 Hypophosphatasia 58 1.000
566
CYC010 Cyclic Neutropenia 58 1.000
567
P FCS002 Fucosidosis 58 1.000
568
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58 1.000
569
P OCL002 Oculocutaneous Albinism 58 1.000
570
P SLV026 Salivary Gland Carcinoma 58 1.000
571
CHR177 Chromophobe Renal Cell Carcinoma 58 1.000
572
EXT034 Extrinsic Allergic Alveolitis 58 1.000
573
CYT008 Cytomegalovirus Infection 58 1.000
574
P MYP006 Myopia 58 1.000
575
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 58 1.000
576
ALP097 Alopecia Universalis Congenita 58 1.000
577
CRV038 Cervical Squamous Cell Carcinoma 58 1.000
578
MLN065 Melanocytic Nevus Syndrome, Congenital 58 1.000
579
CHN055 Chanarin-Dorfman Syndrome 58 1.000
580
c GM1004 Gm1-Gangliosidosis, Type I 58 1.000
581
MCK005 Mckusick-Kaufman Syndrome 58 1.000
582
P THR117 Three M Syndrome 1 58 1.000
583
HYP042 Hypochondroplasia 58 1.000
584
PLM031 Poliomyelitis 58 1.000
585
c NMN013 Niemann-Pick Disease, Type a 58 1.000
586
ALX003 Alexander Disease 58 1.000
587
CHR288 Chronic Recurrent Multifocal Osteomyelitis 58 1.000
588
c ESS001 Essential Tremor 58 1.000
589
LYM021 Lymphadenitis 58 1.000
590
KND001 Kindler Syndrome 58 1.000
591
BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 58 1.000
592
TMR010 Tumor Predisposition Syndrome 58 1.000
593
P HYP726 Hypercalcemia, Infantile, 1 58 1.000
594
CNT047 Contact Dermatitis 58 1.000
595
P AXN002 Axenfeld-Rieger Syndrome 58 1.000
596
CHR003 Cherubism 58 1.000
597
P FML052 Familial Cold Autoinflammatory Syndrome 58 1.000
598
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 58 1.000
599
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 58 1.000
600
RSP019 Respiratory Distress Syndrome in Premature Infants 58 1.000
601
RCT015 Reactive Arthritis 58 1.000
602
BRG013 Buerger Disease 58 1.000
603
P USH001 Usher Syndrome 58 1.000
604
HRP004 Herpes Zoster 58 1.000
605
DBN001 Dubin-Johnson Syndrome 58 1.000
606
P EXN002 Exanthem 58 1.000
607
ISL014 Isolated Growth Hormone Deficiency, Type Ia 58 1.000
608
LYM027 Lymphopenia 58 1.000
609
CHR101 Char Syndrome 58 1.000
610
DSS009 Disseminated Intravascular Coagulation 58 1.000
611
PYR041 Pyruvate Kinase Deficiency of Red Cells 58 1.000
612
IRN002 Iron Metabolism Disease 58 1.000
613
QFV001 Q Fever 58 1.000
614
WLF002 Wolf-Hirschhorn Syndrome 58 1.000
615
ERY051 Erythroleukemia, Familial 58 1.000
616
TRG002 Trigeminal Neuralgia 58 1.000
617
GLB001 Gilbert Syndrome 58 1.000
618
P PRT008 Proteus Syndrome 58 1.000
619
TNS005 Tonsillitis 58 1.000
620
HPT022 Hepatoblastoma 58 1.000
621
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 58 1.000
622
c THY109 Thyroid Cancer, Nonmedullary, 1 58 1.000
623
STR081 Stormorken Syndrome 58 1.000
624
MVL001 Mevalonic Aciduria 58 1.000
625
c PRG018 Paragangliomas 1 58 1.000
626
BLR008 Bilirubin Metabolic Disorder 58 1.000
627
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 58 1.000
628
ERY029 Erythermalgia, Primary 58 1.000
629
c MCL046 Mucolipidosis Iii Alpha/beta 58 1.000
630
TMT001 Timothy Syndrome 58 1.000
631
LGS001 Legius Syndrome 57 1.000
632
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 57 1.000
633
RBS001 Rabies 57 1.000
634
GLC004 Galactokinase Deficiency 57 1.000
635
P TRC086 Trichohepatoenteric Syndrome 1 57 1.000
636
P DNG005 Dengue Virus 57 1.000
637
DNN002 Donnai-Barrow Syndrome 57 1.000
638
ALK013 Alkaptonuria 57 1.000
639
P INF037 Inflammatory Bowel Disease 57 1.000
640
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57 1.000
641
c PRX059 Peroxisome Biogenesis Disorder 1a 57 1.000
642
PLS011 Plasmacytoma 57 1.000
643
P STR020 Strabismus 57 1.000
644
P SJG008 Sjogren Syndrome 57 1.000
645
CMM005 Common Cold 57 1.000
646
TNG003 Tongue Cancer 57 1.000
647
P MTC069 Mitochondrial Disorders 57 1.000
648
BRN045 Brunner Syndrome 57 1.000
649
RTN209 Retinoschisis 1, X-Linked, Juvenile 57 1.000
650
c FML116 Familial Cold Autoinflammatory Syndrome 1 57 1.000
651
c LNG047 Long Qt Syndrome 2 57 1.000
652
P HMN036 Hemangiopericytoma, Malignant 57 1.000
653
P STS008 Sotos Syndrome 1 57 1.000
654
PBL005 Piebald Trait 57 1.000
655
SCH014 Schistosomiasis 57 1.000
656
c HYP731 Hyperaldosteronism, Familial, Type I 57 1.000
657
CFF002 Coffin-Lowry Syndrome 57 1.000
658
GST050 Gastrointestinal System Disease 57 1.000
659
c WRD030 Waardenburg Syndrome, Type 1 57 1.000
660
P MMP001 Mumps 57 1.000
661
P PRN023 Prion Disease 57 1.000
662
c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 57 1.000
663
ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 57 1.000
664
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 57 1.000
665
SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 57 1.000
666
SPN041 Spinal Cord Disease 57 1.000
667
P PLY041 Polymyositis 57 1.000
668
FCT003 Factor X Deficiency 57 1.000
669
LKN001 Leukoencephalopathy with Vanishing White Matter 57 1.000
670
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 57 1.000
671
c LYS019 Loeys-Dietz Syndrome 1 57 1.000
672
c DYS056 Dystonia 12 57 1.000
673
PPL058 Papilloma of Choroid Plexus 57 1.000
674
P ORL007 Oral Cavity Cancer 57 1.000
675
P FBR017 Fibrosarcoma 57 1.000
676
CPR004 Coproporphyria, Hereditary 57 1.000
677
c PCH015 Pachyonychia Congenita 1 57 1.000
678
CHN016 Cohen Syndrome 57 1.000
679
GLL018 Gallbladder Cancer 57 1.000
680
P GRV001 Graves' Disease 57 1.000
681
TRN018 Transitional Cell Carcinoma 57 1.000
682
P CHN012 Chondrosarcoma 57 1.000
683
DNY001 Denys-Drash Syndrome 57 1.000
684
INT030 Intracranial Aneurysm 57 1.000
685
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 57 1.000
686
c ANG068 Angioedema, Hereditary, Type I 57 1.000
687
CMP010 Complex Regional Pain Syndrome 57 1.000
688
P SCK004 Seckel Syndrome 57 1.000
689
HRY003 Hairy Cell Leukemia 57 1.000
690
PTN001 Patent Foramen Ovale 57 1.000
691
VTM028 Vitamin E, Familial Isolated Deficiency of 57 1.000
692
SFT003 Soft Tissue Sarcoma 57 1.000
693
P PLC011 Pilocytic Astrocytoma 57 1.000
694
P PLY147 Polydactyly, Postaxial, Type A1 57 1.000
695
RSP006 Respiratory System Disease 57 1.000
696
RLP002 Relapsing-Remitting Multiple Sclerosis 57 1.000
697
SPN035 Spindle Cell Sarcoma 57 1.000
698
ERY003 Erythema Multiforme 57 1.000
699
PRS047 Prostatitis 57 1.000
700
ANT009 Antithrombin Iii Deficiency 57 1.000
701
PMS001 Poems Syndrome 57 1.000
702
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56 1.000
703
ENH001 Enhanced S-Cone Syndrome 56 1.000
704
ANT024 Anthrax Disease 56 1.000
705
RHM027 Rheumatic Disease 56 1.000
706
c ANM036 Anemia, Sideroblastic, 1 56 1.000
707
ACT200 Acute Monoblastic Leukemia 56 1.000
708
P BTH005 Bethlem Myopathy 1 56 1.000
709
PMP006 Pemphigus Vulgaris, Familial 56 1.000
710
c OST122 Osteogenesis Imperfecta, Type Iii 56 1.000
711
ALL010 Allergic Contact Dermatitis 56 1.000
712
APH001 Aphthous Stomatitis 56 1.000
713
P EXD001 Exudative Vitreoretinopathy 56 1.000
714
P BNC003 Bone Cancer 56 1.000
715
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56 1.000
716
c HYP293 Hypophosphatasia, Adult 56 1.000
717
c BRD014 Bardet-Biedl Syndrome 2 56 1.000
718
c ALB009 Albinism, Oculocutaneous, Type Ia 56 1.000
719
ORL005 Oral Candidiasis 56 1.000
720
ALL006 Allergic Asthma 56 1.000
721
P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56 1.000
722
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 56 1.000
723
P AGN002 Agnosia 56 1.000
724
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 56 1.000
725
c XRD022 Xeroderma Pigmentosum, Complementation Group D 56 1.000
726
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 56 1.000
727
P BRT029 Brittle Cornea Syndrome 2 56 1.000
728
EXF001 Exfoliation Syndrome 56 1.000
729
CMR002 Coumarin Resistance 56 1.000
730
CRH005 Crohn's Colitis 56 1.000
731
P RBL001 Rubella 56 1.000
732
DYS192 Dystonia, Dopa-Responsive 56 1.000
733
DST005 Diastrophic Dysplasia 56 1.000
734
c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 56 1.000
735
FLR002 Filariasis 56 1.000
736
P SCK002 Sick Sinus Syndrome 56 1.000
737
ALV005 Alveolar Soft Part Sarcoma 56 1.000
738
BRN015 Bronchiolo-Alveolar Adenocarcinoma 56 1.000
739
MNK003 Muenke Syndrome 56 1.000
740
APP015 Apparent Mineralocorticoid Excess 56 1.000
741
c CHR417 Chronic Graft Versus Host Disease 56 1.000
742
SCR008 Scrub Typhus 56 1.000
743
OVR012 Ovarian Serous Cystadenocarcinoma 56 1.000
744
c SVR001 Severe Acute Respiratory Syndrome 56 1.000
745
c ORF040 Orofaciodigital Syndrome Viii 56 1.000
746
P RTN016 Retinal Degeneration 56 1.000
747
BTN003 Biotinidase Deficiency 56 1.000
748
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 56 1.000
749
FCL014 Focal Epilepsy 56 1.000
750
LBL001 Lobular Neoplasia 56 1.000
751
P SHR029 Short Syndrome 56 1.000
752
P FTL001 Fetal Alcohol Syndrome 56 1.000
753
c NPH055 Nephrotic Syndrome, Type 1 56 1.000
754
c FNC042 Fanconi Anemia, Complementation Group D2 56 1.000
755
c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 56 1.000
756
FNC009 Fanconi-Bickel Syndrome 56 1.000
757
P FNC044 Fanconi Anemia, Complementation Group C 56 1.000
758
c MLG077 Malignant Peripheral Nerve Sheath Tumor 56 1.000
759
MCS002 Mucositis 56 1.000
760
P PMP001 Pemphigus 56 1.000
761
HNC001 Henoch-Schoenlein Purpura 56 1.000
762
CRN239 Carnitine Deficiency, Systemic Primary 56 1.000
763
PHR003 Pharyngitis 56 1.000
764
AND020 Androgen Insensitivity, Partial 56 1.000
765
JPN002 Japanese Encephalitis 56 1.000
766
P ZLL001 Zellweger Syndrome 56 1.000
767
DFF005 Diffuse Large B-Cell Lymphoma 56 1.000
768
P ANT006 Antiphospholipid Syndrome 56 1.000
769
MTH009 Mouth Disease 56 1.000
770
MYP139 Myopathy, Proximal, and Ophthalmoplegia 56 1.000
771
GLS001 Gliosarcoma 56 1.000
772
PPL022 Papilloma 56 1.000
773
PRT038 Protein-Energy Malnutrition 56 1.000
774
c CRD099 Cardiomyopathy, Dilated, 1e 56 1.000
775
LNN001 Lennox-Gastaut Syndrome 56 1.000
776
c PRD040 Periodontitis, Chronic 56 1.000
777
c LYS021 Loeys-Dietz Syndrome 3 56 1.000
778
P MLT007 Multiple Epiphyseal Dysplasia 56 1.000
779
CNV004 Canavan Disease 56 1.000
780
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 56 1.000
781
RHM001 Rheumatic Fever 56 1.000
782
HPT046 Hepatic Veno-Occlusive Disease 56 1.000
783
c ADL096 Adult Hepatocellular Carcinoma 56 1.000
784
c BNG091 Benign Chronic Pemphigus 56 1.000
785
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 56 1.000
786
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 56 1.000
787
c FML035 Familial Hyperlipidemia 56 1.000
788
WST005 West Nile Virus 56 1.000
789
P NRC002 Narcolepsy 56 1.000
790
PSD014 Pseudopseudohypoparathyroidism 56 1.000
791
P HYP024 Hypoparathyroidism 56 1.000
792
P INT068 Intestinal Disease 56 1.000
793
EHL052 Ehlers-Danlos Syndrome, Vascular Type 56 1.000
794
AVN001 Avian Influenza 56 1.000
795
P JRV004 Jervell and Lange-Nielsen Syndrome 1 56 1.000
796
P HYP818 Hypobetalipoproteinemia, Familial, 1 56 1.000
797
SNS003 Sensory Peripheral Neuropathy 56 1.000
798
PLM102 Palmoplantar Keratoderma, Epidermolytic 56 1.000
799
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56 1.000
800
c OST080 Osteogenesis Imperfecta, Type Ii 56 1.000
801
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 1.000
802
VTM027 Vitamin D-Dependent Rickets, Type 2a 56 1.000
803
c INT072 Intestinal Pseudo-Obstruction 55 1.000
804
VRG001 Variegate Porphyria 55 1.000
805
GRN034 Grange Syndrome 55 1.000
806
DNT005 Dentatorubral-Pallidoluysian Atrophy 55 1.000
807
c LBR014 Leber Congenital Amaurosis 4 55 1.000
808
P EPD003 Epidermolysis Bullosa Simplex 55 1.000
809
P PTT014 Pitt-Hopkins Syndrome 55 1.000
810
HYP732 Hyperalphalipoproteinemia 1 55 1.000
811
GRN051 Granulomatous Disease, Chronic, X-Linked 55 1.000
812
P PNM006 Pneumoconiosis 55 1.000
813
WHM001 Whim Syndrome 55 1.000
814
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55 1.000
815
c MYP132 Myopathy, Congenital 55 1.000
816
P SLV001 Silver-Russell Syndrome 55 1.000
817
P SNR003 Senior-Loken Syndrome 1 55 1.000
818
ORP003 Oropharynx Cancer 55 1.000
819
SYN007 Synovitis 55 1.000
820
P HYD033 Hydrolethalus Syndrome 1 55 1.000
821
P TCD001 Tic Disorder 55 1.000
822
c EPS042 Episodic Ataxia, Type 1 55 1.000
823
MTC097 Mitochondrial Complex Iv Deficiency 55 1.000
824
PRG009 Progressive Multifocal Leukoencephalopathy 55 1.000
825
ASP002 Aspartylglucosaminuria 55 1.000
826
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 55 1.000
827
P SPN301 Spinocerebellar Ataxia 2 55 1.000
828
SLC006 Silicosis 55 1.000
829
CYS010 Cystinosis 55 1.000
830
KLP010 Klippel-Trenaunay-Weber Syndrome 55 1.000
831
TTZ003 Tietz Albinism-Deafness Syndrome 55 1.000
832
CRN295 Carnitine Palmitoyltransferase I Deficiency 55 1.000
833
P URF003 Urofacial Syndrome 1 55 1.000
834
P ALP106 Alport Syndrome 1, X-Linked 55 1.000
835
ACD008 Acid-Labile Subunit Deficiency 55 1.000
836
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 55 1.000
837
BRN012 Bronchiolitis Obliterans 55 1.000
838
PSD012 Pseudoachondroplasia 55 1.000
839
MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 55 1.000
840
AMY082 Amyloidosis, Familial Visceral 55 1.000
841
c SPN294 Spinocerebellar Ataxia 1 55 1.000
842
c RGD003 Rigid Spine Muscular Dystrophy 1 55 1.000
843
P VNS003 Venous Insufficiency 55 1.000
844
OCL020 Ocular Cicatricial Pemphigoid 55 1.000
845
c FRS014 Fraser Syndrome 1 55 1.000
846
HYD038 Hydrops Fetalis, Nonimmune 55 1.000
847
ANN002 Anencephaly 55 1.000
848
CHK001 Chikungunya 55 1.000
849
c CNG208 Congenital Disorder of Glycosylation, Type Iic 55 1.000
850
ESP023 Esophageal Disease 55 1.000
851
c THY107 Thymoma, Familial 55 1.000
852
MST005 Mastitis 55 1.000
853
LMB002 Lambert-Eaton Myasthenic Syndrome 55 1.000
854
ARM001 Aromatase Deficiency 55 1.000
855
P CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55 1.000
856
P LCH002 Lichen Planus 55 1.000
857
ARG007 Argininemia 55 1.000
858
P ICH004 Ichthyosis 55 1.000
859
CRC006 Carcinoid Syndrome 55 1.000
860
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 55 1.000
861
P DYS193 Dystonia 11, Myoclonic 55 1.000
862
ADN027 Adenomyosis 55 1.000
863
P ISL078 Isolated Ectopia Lentis 55 1.000
864
MSS001 Masa Syndrome 55 1.000
865
PLM070 Pulmonic Stenosis 55 1.000
866
c PSR017 Psoriasis 2 55 1.000
867
CRT033 Corticobasal Degeneration 55 1.000
868
MTC027 Mitochondrial Trifunctional Protein Deficiency 55 1.000
869
c GLY011 Glycogen Storage Disease Vii 55 1.000
870
CNN011 Cenani-Lenz Syndactyly Syndrome 55 1.000
871
P TRM003 Tremor 55 1.000
872
IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 55 1.000
873
BRK001 Brooke-Spiegler Syndrome 55 1.000
874
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 55 1.000
875
P PLY019 Polyneuropathy 55 1.000
876
c CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 55 1.000
877
c AML044 Amelogenesis Imperfecta, Type Ig 55 1.000
878
c GLC097 Glaucoma 3, Primary Congenital, a 55 1.000
879
LG4001 Lig4 Syndrome 55 1.000
880
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 55 1.000
881
P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 55 1.000
882
LST001 Listeriosis 55 1.000
883
PRC002 Paracoccidioidomycosis 55 1.000
884
P NRV006 Nervous System Cancer 55 1.000
885
VSC003 Visceral Leishmaniasis 55 1.000
886
PLC005 Placental Insufficiency 55 1.000
887
MXD005 Mixed Connective Tissue Disease 55 1.000
888
P LRS001 Larsen Syndrome 55 1.000
889
KRT071 Keratosis, Seborrheic 55 1.000
890
OST024 Osteoporosis-Pseudoglioma Syndrome 55 1.000
891
CHL028 Childhood Type Dermatomyositis 55 1.000
892
P FTL069 Fetal Akinesia Deformation Sequence 1 55 1.000
893
HMP005 Hemiplegia 55 1.000
894
SPT004 Septic Arthritis 55 1.000
895
c LKM070 Leukemia, Acute Monocytic 55 1.000
896
CYS005 Cysticercosis 55 1.000
897
c RBN021 Rubinstein-Taybi Syndrome 1 55 1.000
898
PST046 Post-Transplant Lymphoproliferative Disease 55 1.000
899
PRP082 Porphyria, Congenital Erythropoietic 55 1.000
900
P ULL002 Ullrich Congenital Muscular Dystrophy 1 55 1.000
901
P LFT003 Left Ventricular Noncompaction 55 1.000
902
HRL003 Hurler Syndrome 55 1.000
903
P OVR049 Ovarian Disease 55 1.000
904
RSC001 Rosacea 55 1.000
905
HYP691 Hypomelanosis of Ito 55 1.000
906
MRG003 Marginal Zone B-Cell Lymphoma 55 1.000
907
PRM042 Primary Effusion Lymphoma 55 1.000
908
THY025 Thymus Cancer 55 1.000
909
FRY006 Fryns Microphthalmia Syndrome 55 1.000
910
ORL004 Oral Submucous Fibrosis 55 1.000
911
OST016 Osteochondrosis 55 1.000
912
SML019 Smallpox 55 1.000
913
BRD001 Brody Myopathy 55 1.000
914
c SML009 Small Intestine Adenocarcinoma 55 1.000
915
CLN019 Colonic Disease 55 1.000
916
P LMB006 Limb-Girdle Muscular Dystrophy 55 1.000
917
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 54 1.000
918
DCB001 Decubitus Ulcer 54 1.000
919
AGN012 Agnathia-Otocephaly Complex 54 1.000
920
ARS001 Aarskog-Scott Syndrome 54 1.000
921
c GCH017 Gaucher Disease, Type Iii 54 1.000
922
THY124 Thyroid Gland Papillary Carcinoma 54 1.000
923
OCL022 Ocular Melanoma 54 1.000
924
CFF003 Caffey Disease 54 1.000
925
ABL002 Ablepharon-Macrostomia Syndrome 54 1.000
926
DRR016 Diarrhea 2, with Microvillus Atrophy 54 1.000
927
VSC044 Visceral Myopathy 54 1.000
928
PRL032 Perlman Syndrome 54 1.000
929
P ESP035 Esophagitis, Eosinophilic, 1 54 1.000
930
RHM028 Rheumatic Heart Disease 54 1.000
931
c GLY007 Glycogen Storage Disease Iv 54 1.000
932
PPL025 Popliteal Pterygium Syndrome 54 1.000
933
HMT018 Hematopoietic Stem Cell Transplantation 54 1.000
934
DYS164 Dyskeratosis Congenita, X-Linked 54 1.000
935
WVR001 Weaver Syndrome 54 1.000
936
GDP001 Goodpasture Syndrome 54 1.000
937
MBS002 Moebius Syndrome 54 1.000
938
c INT064 Intermediate Uveitis 54 1.000
939
INT079 Intrahepatic Cholangiocarcinoma 54 1.000
940
PLM026 Pilomatrixoma 54 1.000
941
OVR059 Ovary Adenocarcinoma 54 1.000
942
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 54 1.000
943
CHR081 Choroideremia 54 1.000
944
EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 54 1.000
945
PRR007 Perry Syndrome 54 1.000
946
P EPD016 Epidermolysis Bullosa 54 1.000
947
c ACT020 Acute T Cell Leukemia 54 1.000
948
DBF001 D-Bifunctional Protein Deficiency 54 1.000
949
PLV003 Pelvic Inflammatory Disease 54 1.000
950
PRP016 Paraplegia 54 1.000
951
P CNG010 Congenital Stationary Night Blindness 54 1.000
952
VGT001 Vogt-Koyanagi-Harada Disease 54 1.000
953
PLG002 Plague 54 1.000
954
FCT004 Factor Xii Deficiency 54 1.000
955
VGN023 Vaginitis 54 1.000
956
P FML012 Familial Partial Lipodystrophy 54 1.000
957
P LYM025 Lymphedema 54 1.000
958
EPD002 Epidermolytic Hyperkeratosis 54 1.000
959
MMB001 Membranoproliferative Glomerulonephritis 54 1.000
960
P MMB011 Membranous Nephropathy 54 1.000
961
GNT003 Genital Herpes 54 1.000
962
P SPN052 Spondyloarthropathy 54 1.000
963
NLP001 Nail-Patella Syndrome 54 1.000
964
PRC013 Pericarditis 54 1.000
965
P BRC006 Brachydactyly 54 1.000
966
P SJG002 Sjogren-Larsson Syndrome 54 1.000
967
P RCT021 Rectum Cancer 54 1.000
968
c HRM017 Hermansky-Pudlak Syndrome 2 54 1.000
969
P CMR001 Camurati-Engelmann Disease 54 1.000
970
c LSS005 Lissencephaly 1 54 1.000
971
c CNG415 Congenital Disorder of Glycosylation, Type Ia 54 1.000
972
SHG001 Shigellosis 54 1.000
973
ZLL002 Zollinger-Ellison Syndrome 54 1.000
974
c MYT020 Myotonic Dystrophy 2 54 1.000
975
GTR002 Goiter 54 1.000
976
P RST001 Restless Legs Syndrome 54 1.000
977
P HYP050 Hyperinsulinemic Hypoglycemia 54 1.000
978
c MCP043 Mucopolysaccharidosis, Type Iiia 54 1.000
979
c SCN036 Secondary Progressive Multiple Sclerosis 54 1.000
980
P MNN019 Mannosidosis, Beta a, Lysosomal 54 1.000
981
LYS003 Lysinuric Protein Intolerance 54 1.000
982
P TYR004 Tyrosinemia 54 1.000
983
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 54 1.000
984
P PRV002 Periventricular Nodular Heterotopia 54 1.000
985
CCC001 Coccidioidomycosis 54 1.000
986
c BRC078 Brachydactyly, Type A1 54 1.000
987
LYM040 Lymphoblastic Lymphoma 54 1.000
988
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 54 1.000
989
PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 54 1.000
990
PNC001 Pancytopenia 54 1.000
991
RNL051 Renal Cysts and Diabetes Syndrome 54 1.000
992
TXC002 Toxic Encephalopathy 54 1.000
993
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 54 1.000
994
c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 54 1.000
995
c HYP292 Hypophosphatasia, Infantile 54 1.000
996
IMM102 Immunodeficiency 14 54 1.000
997
P MYS005 Myositis 54 1.000
998
P ALT001 Alternating Hemiplegia of Childhood 54 1.000
999
P HML001 Hemolytic-Uremic Syndrome 54 1.000
1000
CLR030 Clear Cell Renal Cell Carcinoma 54 1.000
1001
ICH001 Ichthyosis Vulgaris 54 1.000
1002
SPN060 Spondylocarpotarsal Synostosis Syndrome 54 1.000
1003
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54 1.000
1004
GRS011 Gerstmann-Straussler Disease 54 1.000
1005
P JNC001 Junctional Epidermolysis Bullosa 54 1.000
1006
P HYP838 Hyperlipidemia, Familial Combined, 3 54 1.000
1008
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 1.000
1009
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54 1.000
1010
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 54 1.000
1011
c FML023 Familial Hemiplegic Migraine 54 1.000
1012
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 54 1.000
1013
CST005 Castleman Disease 54 1.000
1014
ECH003 Echinococcosis 54 1.000
1015
P MGL001 Megaloblastic Anemia 54 1.000
1016
DMY004 Demyelinating Disease 54 1.000
1017
c PRM092 Primary Lateral Sclerosis, Adult, 1 54 1.000
1018
RSP002 Respiratory Syncytial Virus Infectious Disease 54 1.000
1019
CNG046 Congenital Fiber-Type Disproportion 54 1.000
1020
SPP010 Suppressor of Tumorigenicity 3 54 1.000
1021
P HYP040 Hypospadias 54 1.000
1022
BRN003 Branchiooculofacial Syndrome 54 1.000
1023
MCN017 Meconium Ileus 54 1.000
1024
P SLM003 Salmonellosis 54 1.000
1025
CRT017 Cartilage Disease 54 1.000
1026
P WLL002 Weill-Marchesani Syndrome 54 1.000
1027
MSC190 Muscular Disease 54 1.000
1028
MCS006 Macs Syndrome 54 1.000
1029
c CRN139 Cornelia De Lange Syndrome 1 54 1.000
1030
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54 1.000
1031
KFR001 Kufor-Rakeb Syndrome 54 1.000
1032
SPN019 Spondylolisthesis 54 1.000
1033
c FML191 Familial Long Qt Syndrome 54 1.000
1034
PLS007 Plasmodium Falciparum Malaria 53 1.000
1035
INF034 Infective Endocarditis 53 1.000
1036
c NMN014 Niemann-Pick Disease, Type C2 53 1.000
1037
NTR018 Neutrophilia, Hereditary 53 1.000
1038
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 53 1.000
1039
PRX015 Paroxysmal Extreme Pain Disorder 53 1.000
1040
P INF049 Infantile Myofibromatosis 53 1.000
1041
P ADM011 Adams-Oliver Syndrome 53 1.000
1042
BRJ001 Borjeson-Forssman-Lehmann Syndrome 53 1.000
1043
ENC044 Enchondromatosis, Multiple, Ollier Type 53 1.000
1044
P CNT004 Centronuclear Myopathy 53 1.000
1045
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 53 1.000
1046
EBS001 Ebstein Anomaly 53 1.000
1047
EXP004 Exophthalmos 53 1.000
1048
PRP036 Peripheral T-Cell Lymphoma 53 1.000
1049
TLN003 Telangiectasis 53 1.000
1050
VLV032 Vulva Cancer 53 1.000