Search results for vhl

145 hits were found for vhl

# Family MCID Name MIFTS Score
1
VNH007 Von Hippel-Lindau Syndrome 69 21.393
2
P ERY048 Erythrocytosis, Familial, 2 42 12.719
3
c VHL001 Vhl-Related Pheochromocytoma 7 8.834
4
P RNL014 Renal Cell Carcinoma 82 6.156
5
P PHC003 Pheochromocytoma 71 5.564
6
HYP266 Hypoxia 56 5.157
7
P KDN017 Kidney Cancer 65 4.625
8
HMN009 Hemangioblastoma 45 4.321
9
P PLY018 Polycythemia 58 4.191
10
P PRG013 Paraganglioma 54 4.164
11
c RNL003 Renal Clear Cell Carcinoma 54 4.149
12
P NRF002 Neurofibromatosis 71 4.024
13
ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 5 3.995
14
ANG037 Angiomatosis 37 3.781
15
c SPR094 Sporadic Pheochromocytoma 36 3.721
16
PHC013 Phaeochromocytoma 41 3.668
17
P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 40 3.604
18
P MLT074 Multiple Endocrine Neoplasia 56 3.578
19
c PRM012 Primary Polycythemia 52 3.578
20
MCR014 Microcystic Adenoma 25 3.578
21
CLR030 Clear Cell Renal Cell Carcinoma 53 3.452
22
END051 Endolymphatic Sac Tumor 25 3.218
23
RTN013 Retinal Hemangioblastoma 37 3.198
24
P ACT105 Acute Mountain Sickness 52 3.099
25
EPT020 Epithelioid Hemangioendothelioma 45 3.099
26
FMR011 Fumarate Hydratase Deficiency 34 3.099
27
PNC018 Pancreatic Serous Cystadenoma 32 3.099
28
CLR112 Clear Cell Papillary Renal Cell Carcinoma 31 3.099
29
HMN004 Hemangioma of Liver 29 3.099
30
ADN072 Adenoma of Pancreas 20 3.099
31
PRG097 Paragangliomas 1, with or Without Deafness 54 2.530
32
c CTR103 Cataract 4, Multiple Types 39 2.530
33
ADR040 Adrenal Gland Pheochromocytoma 33 2.530
34
CTR009 Cataract Congenital Dominant Non Nuclear 20 2.530
35
P PNC044 Pancreatitis 61 0.179
36
VSC006 Vascular Cancer 51 0.153
37
CRD118 Cardiovascular Cancer 44 0.153
38
P THY032 Thyroiditis 54 0.132
39
P HMN010 Hemangioma 59 0.121
40
END072 Endotheliitis 42 0.121
41
BRN028 Brain Cancer 70 0.108
42
RNL101 Renal Cell Carcinoma, Papillary 63 0.108
43
P NRV006 Nervous System Cancer 60 0.108
44
ADL002 Adult Syndrome 52 0.108
45
P CPL006 Capillary Hemangioma 51 0.108
46
P PNC035 Pancreatic Cancer 87 0.094
47
SQM006 Squamous Cell Carcinoma 70 0.094
48
P ADN016 Adenocarcinoma 69 0.094
49
RTN018 Retinal Disease 53 0.094
50
RTN015 Retinal Cancer 49 0.094
51
INN002 Inner Ear Disease 49 0.094
52
RTN020 Retinal Vascular Disease 48 0.094
53
ADT003 Auditory System Disease 40 0.094
54
CPL005 Capillary Disease 36 0.094
55
CNT023 Central Nervous System Hemangioma 26 0.094
56
CRB014 Cerebral Angioma 24 0.094
57
BRN027 Brain Angioma 21 0.094
58
c RNL034 Renal Cell Carcinoma 4 18 0.094
59
INN001 Inner Ear Cancer 11 0.094
60
P LNG032 Lung Cancer 95 0.076
61
P HPT021 Hepatitis 69 0.076
62
PRP027 Peripheral Vascular Disease 68 0.076
63
VSC007 Vascular Disease 67 0.076
64
P GLM045 Glioma 60 0.076
65
PNC034 Pancreas Disease 58 0.076
66
ORL015 Oral Squamous Cell Carcinoma 57 0.076
67
PNC033 Pancreas Adenocarcinoma 57 0.076
68
PLY023 Polycystic Liver Disease 56 0.076
69
NRN004 Neuroendocrine Tumor 56 0.076
70
SPN041 Spinal Cord Disease 51 0.076
71
ISL001 Islet Cell Tumor 50 0.076
72
RTN023 Retinitis 50 0.076
73
P RNL017 Renal Oncocytoma 47 0.076
74
PRP021 Peripheral Nervous System Neoplasm 46 0.076
75
INC022 Inclusion-Cell Disease 46 0.076
76
c CLL013 Cell Type Cancer 46 0.076
77
ACD009 Acid-Labile Subunit, Deficiency of 45 0.076
78
PNC119 Pancreatic Neuroendocrine Tumor 40 0.076
79
SPN040 Spinal Cancer 39 0.076
80
SPN369 Spinal Disease 39 0.076
81
BLD054 Blood Protein Disease 37 0.076
82
c PNC106 Pancreatic Agenesis 1 37 0.076
83
NSY001 N Syndrome 36 0.076
84
PNC053 Pancreatic Islet Cell Tumors 35 0.076
85
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.076
86
c PNC103 Pancreatic Cancer 4 29 0.076
87
c PNC111 Pancreatic Cancer 2 28 0.076
88
c PNC094 Pancreatic Cancer 1 27 0.076
89
CNT067 Central Cord Syndrome 23 0.076
90
VNH004 Von Hippel Anomaly 12 0.076
91
BRN069 Brain and Spinal Tumors 12 0.076
92
P BRS047 Breast Cancer 100 0.054
93
P PRS040 Prostate Cancer 90 0.054
94
P MLT019 Multiple Myeloma 83 0.054
95
GST053 Gastric Cancer 78 0.054
96
GST019 Gastrointestinal Stromal Tumor 73 0.054
97
THY028 Thyroid Cancer 69 0.054
98
c NRF018 Neurofibromatosis, Type 1 67 0.054
99
P TBR001 Tuberous Sclerosis 67 0.054
100
P KDN018 Kidney Disease 66 0.054
101
P HYD006 Hydrocephalus 66 0.054
102
P EPL164 Epilepsy 66 0.054
103
P PSR002 Psoriasis 61 0.054
104
P ESP024 Esophagitis 61 0.054
105
MTH009 Mouth Disease 61 0.054
106
P ORL007 Oral Cavity Cancer 59 0.054
107
ADN018 Adenoma 58 0.054
108
P EXN002 Exanthem 57 0.054
109
THR024 Thrombosis 57 0.054
110
SNS001 Sensorineural Hearing Loss 57 0.054
111
ORL011 Oral Cancer 56 0.054
112
P FBR017 Fibrosarcoma 56 0.054
113
PRS047 Prostatitis 56 0.054
114
PPL022 Papilloma 55 0.054
115
CHR029 Choroid Plexus Papilloma 55 0.054
116
NWC001 Newcastle Disease 54 0.054
117
CND002 Conduct Disorder 54 0.054
118
FRB001 Farber Lipogranulomatosis 53 0.054
119
OLV001 Olivopontocerebellar Atrophy 53 0.054
120
GTR002 Goiter 52 0.054
121
CYS039 Cystic Kidney Disease 52 0.054
122
HND003 Hand-Foot-Uterus Syndrome 50 0.054
123
P CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 48 0.054
124
GNG002 Ganglioneuroma 47 0.054
125
ERY045 Erythrocytosis, Somatic 46 0.054
126
ACR041 Acromelic Frontonasal Dysostosis 45 0.054
127
MXD023 Mixed Cell Type Cancer 44 0.054
128
GDS001 Good Syndrome 44 0.054
129
VST004 Vestibular Disease 44 0.054
130
CHR008 Choroiditis 44 0.054
131
PHY002 Physical Disorder 43 0.054
132
BRT030 Birth Defects 43 0.054
133
LKC003 Leukocyte Disease 43 0.054
134
ADR041 Adrenal Cortical Adenoma 41 0.054
135
HMH002 Hemihypertrophy 41 0.054
136
MLT008 Multinodular Goiter 41 0.054
137
CYS009 Cystadenoma 40 0.054
138
CRB009 Cerebritis 39 0.054
139
SPC003 Specific Developmental Disorder 38 0.054
140
TTR016 Tetra-Amelia Syndrome 36 0.054
141
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.054
142
c BRN108 Branchiootic Syndrome 1 34 0.054
143
c ACQ010 Acquired Polycythemia 30 0.054
144
HRN022 Hearing Loss/deafness 26 0.054
145
c RNL033 Renal Carcinoma, Familial 12 0.054
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