Search results for NF1

227 hits were found for NF1

# Family MCID Name MIFTS Score
1
c NRF024 Neurofibromatosis, Type I 63 17.820
2
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 15.942
3
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36 12.068
4
NRF008 Neurofibromatosis-Noonan Syndrome 47 4.470
5
c JVN004 Juvenile Myelomonocytic Leukemia 70 4.408
6
CHR554 Chromosome 17q11.2 Deletion Syndrome 11 4.087
7
WTS001 Watson Syndrome 25 3.963
8
NRF007 Neurofibroma 65 3.718
9
P CLR023 Colorectal Cancer 98 3.559
10
P BRS047 Breast Cancer 100 3.346
11
MLG077 Malignant Peripheral Nerve Sheath Tumor 59 3.237
12
PLX002 Plexiform Neurofibroma 40 3.058
13
MYL009 Myelodysplastic Syndrome 75 3.049
14
NRF016 Neurofibromatosis, Familial Spinal 33 2.972
15
LGS001 Legius Syndrome 52 2.891
16
P AST007 Astrocytoma 66 2.802
17
P PLC011 Pilocytic Astrocytoma 63 2.772
18
NRV006 Nervous System Cancer 61 2.756
19
P TBR001 Tuberous Sclerosis 69 2.720
20
NRF003 Neurofibrosarcoma 42 2.720
21
P PRG013 Paraganglioma 57 2.677
22
P NNN008 Noonan Syndrome 1 77 2.497
23
P PHC003 Pheochromocytoma 72 2.497
24
ATS270 Autosomal Dominant Café Au Lait Spots 28 2.483
25
PRP021 Peripheral Nervous System Neoplasm 53 2.353
26
VNH007 Von Hippel-Lindau Syndrome 72 2.344
27
ECT005 Ectropion 47 2.344
28
ELP001 Elephantiasis 40 2.344
29
P LFR001 Li-Fraumeni Syndrome 72 2.318
30
c MLT160 Multiple Endocrine Neoplasia, Type Iia 65 2.318
31
NRL005 Neurilemmoma 64 2.318
32
P LPR002 Leopard Syndrome 56 2.318
33
P MLT074 Multiple Endocrine Neoplasia 55 2.318
34
P RNV001 Renovascular Hypertension 48 2.318
35
PHC013 Phaeochromocytoma 44 2.318
36
CLL001 Cellular Schwannoma 38 2.318
37
OPT032 Optic Pathway Glioma 29 2.088
38
GST019 Gastrointestinal Stromal Tumor 74 2.044
39
OPT007 Optic Nerve Glioma 45 1.991
40
P NRF023 Neurofibromatosis, Type Ii 69 1.971
41
P PSD086 Pseudoarthrosis 41 1.949
42
OPT008 Optic Nerve Neoplasm 38 1.949
43
c SPR094 Sporadic Pheochromocytoma 38 1.949
44
c MNN043 Meningioma, Familial 69 1.923
45
PLM070 Pulmonic Stenosis 61 1.923
46
OST032 Osteofibrous Dysplasia 51 1.923
47
P MYM013 Moyamoya Disease 1 50 1.923
48
NRL002 Neurilemmomatosis 41 1.923
49
MLG041 Malignant Triton Tumor 36 1.923
50
URC003 Urachal Adenocarcinoma 22 1.923
51
BNM001 Bone Marrow Cancer 52 1.893
52
c GLC097 Glaucoma 3, Primary Congenital, a 51 1.893
53
EXP004 Exophthalmos 50 1.893
54
PLN006 Poland Syndrome 50 1.893
55
c JVN009 Juvenile Pilocytic Astrocytoma 47 1.893
56
MYL004 Myelodysplastic Myeloproliferative Cancer 45 1.893
57
CHR386 Chromosome 6pter-P24 Deletion Syndrome 40 1.893
58
P SPN042 Spinal Cord Ependymoma 40 1.893
59
INT042 Internuclear Ophthalmoplegia 40 1.893
60
SPN021 Spinal Meningioma 39 1.893
61
P MNN007 Meningocele 38 1.893
62
VLV020 Vulvar Melanoma 37 1.893
63
OBS004 Obstructive Hydrocephalus 37 1.893
64
HYP737 Hyperhidrosis, Gustatory 36 1.893
65
c ADL008 Adult Oligodendroglioma 36 1.893
66
INT004 Intraneural Perineurioma 36 1.893
67
MLG005 Malignant Spindle Cell Melanoma 35 1.893
68
TLS001 Tolosa-Hunt Syndrome 35 1.893
69
BRC010 Brachial Plexus Lesion 34 1.893
70
GNT001 Giant Cell Reparative Granuloma 34 1.893
71
PLX001 Plexiform Schwannoma 34 1.893
72
LNG037 Lung Sarcoma 32 1.893
73
SCL014 Scleral Staphyloma 32 1.893
74
ATS009 Autosomal Genetic Disease 31 1.893
75
HYP048 Hypotropia 31 1.893
76
AMY002 Amyloid Tumor 30 1.893
77
NPH006 Nephrogenic Adenofibroma 30 1.893
78
PLM005 Pleomorphic Lipoma 30 1.893
79
DDN005 Duodenal Somatostatinoma 30 1.893
80
EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29 1.893
81
PLC004 Pilocytic Astrocytoma of Cerebellum 29 1.893
82
c INF031 Inflammatory Leiomyosarcoma 29 1.893
83
ATY004 Atypical Neurofibroma 28 1.893
84
IMM002 Immature Cataract 28 1.893
85
BRN031 Brain Germinoma 28 1.893
86
CRB031 Cerebral Arterial Disease 27 1.893
87
c CHR094 Chronic Polyneuropathy 26 1.893
88
BNS002 Bone Structure Disease 26 1.893
89
GLF001 Gliofibroma 25 1.893
90
CNV006 Conventional Leiomyosarcoma 24 1.893
91
P INT260 Intracranial Berry Aneurysm 24 1.893
92
EXP001 Expressive Language Disorder 24 1.893
93
SBC002 Subclavian Artery Aneurysm 23 1.893
94
ORB011 Orbit Rhabdomyosarcoma 23 1.893
95
MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 23 1.893
96
CHL062 Childhood Pilocytic Astrocytoma 22 1.893
97
P SPN039 Spinal Canal and Spinal Cord Meningioma 20 1.893
98
PLS001 Pulsating Exophthalmos 18 1.893
99
ORB002 Orbit Embryonal Rhabdomyosarcoma 16 1.893
100
ADL042 Adult Malignant Schwannoma 14 1.893
101
VGS002 Vagus Nerve Neoplasm 11 1.893
102
EQT001 Equatorial Staphyloma 9 1.893
103
CFL005 Cafe-Au-Lait Spots, Multiple 20 1.559
104
ATS008 Autosomal Dominant Disease 39 1.338
105
ORG010 Organ System Benign Neoplasm 28 1.338
106
P NRP001 Neuropathy 63 0.298
107
NRM005 Neuromuscular Disease 60 0.294
108
NRT004 Neuritis 55 0.294
109
PRP019 Peripheral Nervous System Disease 53 0.294
110
P GLM045 Glioma 61 0.218
111
P LKM002 Leukemia 75 0.208
112
c PSD047 Pseudo-Turner Syndrome 15 0.151
113
MLN008 Melanoma 72 0.143
114
NRN002 Neuronitis 43 0.126
115
LRN003 Learning Disability 49 0.117
116
BRC012 Brucellosis 71 0.107
117
GLB002 Glioblastoma 74 0.095
118
P ATS364 Autism 70 0.095
119
P MYL006 Myeloid Leukemia 69 0.095
120
P SCL018 Scoliosis 56 0.095
121
EWN002 Ewing's Family of Tumors 49 0.095
122
P LNG032 Lung Cancer 99 0.083
123
c LKM061 Leukemia, Acute Myeloid 81 0.083
124
P NRB001 Neuroblastoma 73 0.083
125
SRC014 Sarcoma 68 0.083
126
c TBR025 Tuberous Sclerosis 1 63 0.083
127
END072 Endotheliitis 46 0.083
128
P DYS005 Dyslexia 39 0.083
129
RDN001 Reading Disorder 36 0.083
130
P SCH077 Schwannomatosis 1 35 0.083
131
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.083
132
P NRV007 Nervous System Disease 75 0.067
133
P MYP004 Myopathy 69 0.067
134
MYL031 Myeloproliferative Neoplasm 64 0.067
135
P EXN002 Exanthem 62 0.067
136
c ACT073 Acute Leukemia 61 0.067
137
ERY003 Erythema Multiforme 60 0.067
138
SFT003 Soft Tissue Sarcoma 58 0.067
139
BNF002 Bone Fracture 56 0.067
140
P THY032 Thyroiditis 56 0.067
141
OPT006 Optic Nerve Disease 53 0.067
142
P HMN036 Hemangiopericytoma, Malignant 52 0.067
143
GNG002 Ganglioneuroma 50 0.067
144
CRN031 Cranial Nerve Disease 45 0.067
145
IDP070 Idiopathic Scoliosis 42 0.067
146
SPC010 Speech and Communication Disorders 40 0.067
147
P SCL057 Scoliosis, Isolated 1 28 0.067
148
P HRT032 Heart Disease 80 0.048
149
P OST002 Osteoporosis 75 0.048
150
P LYM118 Lymphoma 71 0.048
151
P ADN016 Adenocarcinoma 71 0.048
152
P OST001 Osteopetrosis 70 0.048
153
P ANR048 Aniridia 1 68 0.048
154
P PRD006 Prader-Willi Syndrome 66 0.048
155
P LYM026 Lymphoblastic Leukemia 66 0.048
156
c MLG068 Malignant Glioma 66 0.048
157
GST050 Gastrointestinal System Disease 66 0.048
158
c TBR026 Tuberous Sclerosis 2 65 0.048
159
AGN016 Aging 65 0.048
160
ALC007 Alcohol Dependence 65 0.048
161
c LKM062 Leukemia, Acute Lymphoblastic 64 0.048
162
P MLN069 Melanoma, Uveal 63 0.048
163
P CHR285 Chronic Myelomonocytic Leukemia 63 0.048
164
MSM014 Mismatch Repair Cancer Syndrome 63 0.048
165
MCR013 Microphthalmia 61 0.048
166
P ACT074 Acute Lymphocytic Leukemia 61 0.048
167
P HMN010 Hemangioma 61 0.048
168
MNT002 Mental Depression 60 0.048
169
PLS011 Plasmacytoma 60 0.048
170
RTN017 Retinal Detachment 59 0.048
171
ALL026 Allergic Hypersensitivity Disease 59 0.048
172
P OLG002 Oligodendroglioma 59 0.048
173
P HYP069 Hyperparathyroidism 58 0.048
174
P PLY019 Polyneuropathy 58 0.048
175
P ENC018 Encephalopathy 58 0.048
176
PPL022 Papilloma 58 0.048
177
LYM019 Lymphosarcoma 58 0.048
178
ANG020 Angiosarcoma 57 0.048
179
P SLV001 Silver-Russell Syndrome 57 0.048
180
MTC007 Mitochondrial Complex I Deficiency 56 0.048
181
P CPL006 Capillary Hemangioma 56 0.048
182
c FNC042 Fanconi Anemia, Complementation Group D2 56 0.048
183
P MYP006 Myopia 56 0.048
184
GNT002 Giant Cell Glioblastoma 56 0.048
185
RDC002 Radiculopathy 55 0.048
186
SPS003 Spastic Diplegia 55 0.048
187
P MGL013 Megalencephaly 54 0.048
188
SMT008 Smith-Magenis Syndrome 54 0.048
189
P PRC019 Precocious Puberty 52 0.048
190
P GLM040 Glioma Susceptibility 1 51 0.048
191
NRM004 Neuroma 51 0.048
192
c MLG074 Malignant Mesenchymoma 51 0.048
193
P LPM005 Lipomatosis 50 0.048
194
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 0.048
195
c RTN162 Retinitis Pigmentosa 2 50 0.048
196
ENC010 Encephalocraniocutaneous Lipomatosis 48 0.048
197
FBR019 Fibromatosis 47 0.048
198
INT038 Interdigitating Dendritic Cell Sarcoma 46 0.048
199
P HRD009 Hereditary Wilms' Tumor 46 0.048
200
LYM024 Lymphatic System Disease 45 0.048
201
PLM020 Pleomorphic Xanthoastrocytoma 43 0.048
202
HMH004 Hemihyperplasia, Isolated 43 0.048
203
OVR105 Ovarian Serous Carcinoma 43 0.048
204
GLM008 Glomus Tumor 43 0.048
205
LYM067 Lymphoid Leukemia 43 0.048
206
c CHR579 Chiari Malformation Type Ii 42 0.048
207
SPN369 Spinal Disease 42 0.048
208
CRB009 Cerebritis 41 0.048
209
PRG017 Paraganglioma and Gastric Stromal Sarcoma 40 0.048
210
P HYP265 Hypotonia 40 0.048
211
PHT003 Phototoxic Dermatitis 39 0.048
212
P BRN120 Bronchus Cancer 39 0.048
213
PLY112 Polyarteritis Nodosa, Childhood-Onset 39 0.048
214
PRN022 Perineurioma 38 0.048
215
PLY024 Polymicrogyria 36 0.048
216
P CNN004 Connective Tissue Cancer 35 0.048
217
c CRN243 Carney Complex, Type 1 35 0.048
218
MSN004 Mesenchymal Cell Neoplasm 35 0.048
219
P BNG013 Benign Breast Phyllodes Tumor 33 0.048
220
ACT118 Acute Non Lymphoblastic Leukemia 32 0.048
221
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.048
222
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.048
223
CBB002 Cobb Syndrome 29 0.048
224
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29 0.048
225
c INF065 Infantile Hypotonia 20 0.048
226
HPS001 Hip Subluxation 17 0.048
227
c CNG120 Congenital Pseudoarthrosis 15 0.048
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