Search results for NF1

382 hits were found for NF1

# Family MCID Name MIFTS Score
1
P NRF002 Neurofibromatosis 71 17.275
2
c NRF018 Neurofibromatosis, Type 1 67 15.824
3
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 31 11.290
4
CHR554 Chromosome 17q11.2 Deletion Syndrome 13 8.691
5
NRF008 Neurofibromatosis-Noonan Syndrome 44 4.314
6
WTS001 Watson Syndrome 28 3.816
7
NRF007 Neurofibroma 53 3.767
8
LKM066 Leukemia, Acute Myelomonocytic, Somatic, Somatic 60 3.583
9
P CLR023 Colorectal Cancer 97 3.472
10
NRF016 Neurofibromatosis, Familial Spinal 32 3.385
11
c MLG077 Malignant Peripheral Nerve Sheath Tumor 56 3.377
12
P BRS047 Breast Cancer 100 3.257
13
PLX002 Plexiform Neurofibroma 41 3.217
14
LGS001 Legius Syndrome 53 3.051
15
P AST007 Astrocytoma 65 3.019
16
P PLC011 Pilocytic Astrocytoma 60 2.995
17
P TBR001 Tuberous Sclerosis 67 2.955
18
NRF003 Neurofibrosarcoma 41 2.955
19
P NRV006 Nervous System Cancer 60 2.946
20
c NRF019 Neurofibromatosis, Type 2 62 2.864
21
P PHC003 Pheochromocytoma 71 2.750
22
P SCH070 Schwannomatosis 50 2.679
23
MYL009 Myelodysplastic Syndrome 73 2.665
24
P NNN008 Noonan Syndrome 1 67 2.649
25
VNH007 Von Hippel-Lindau Syndrome 69 2.633
26
ECT005 Ectropion 39 2.633
27
ELP001 Elephantiasis 37 2.633
28
P LFR001 Li-Fraumeni Syndrome 75 2.614
29
c MLT024 Multiple Endocrine Neoplasia Iia 64 2.614
30
P MLT074 Multiple Endocrine Neoplasia 56 2.614
31
P PRG013 Paraganglioma 54 2.614
32
NRL005 Neurilemmoma 51 2.614
33
P RNV001 Renovascular Hypertension 47 2.614
34
CLL001 Cellular Schwannoma 43 2.614
35
PHC013 Phaeochromocytoma 41 2.614
36
PRP021 Peripheral Nervous System Neoplasm 46 2.604
37
OPT032 Optic Pathway Glioma 25 2.399
38
GST019 Gastrointestinal Stromal Tumor 73 2.363
39
OPT007 Optic Nerve Glioma 41 2.350
40
OPT008 Optic Nerve Neoplasm 36 2.350
41
c NRV012 Nervous System Benign Neoplasm 31 2.335
42
BNS002 Bone Structure Disease 37 2.320
43
ATS001 Autistic Disorder 63 2.303
44
ATS008 Autosomal Dominant Disease 39 2.303
45
P PSD086 Pseudoarthrosis 37 2.303
46
c SPR094 Sporadic Pheochromocytoma 36 2.303
47
ATS009 Autosomal Genetic Disease 35 2.303
48
c ADL042 Adult Malignant Schwannoma 14 2.303
49
PLM070 Pulmonic Stenosis 59 2.285
50
BNM001 Bone Marrow Cancer 51 2.285
51
OST032 Osteofibrous Dysplasia 38 2.285
52
MLG041 Malignant Triton Tumor 36 2.285
53
c MNN043 Meningioma, Familial 59 2.264
54
P LPR002 Leopard Syndrome 55 2.264
55
P EXP004 Exophthalmos 53 2.264
56
MYL004 Myelodysplastic Myeloproliferative Cancer 45 2.264
57
SPN021 Spinal Meningioma 44 2.264
58
P SPN042 Spinal Cord Ependymoma 43 2.264
59
c JVN009 Juvenile Pilocytic Astrocytoma 42 2.264
60
GNT001 Giant Cell Reparative Granuloma 41 2.264
61
AMY002 Amyloid Tumor 37 2.264
62
INT042 Internuclear Ophthalmoplegia 37 2.264
63
CRB026 Cerebellar Astrocytoma 37 2.264
64
P MNN007 Meningocele 36 2.264
65
BRC010 Brachial Plexus Lesion 36 2.264
66
PLX001 Plexiform Schwannoma 35 2.264
67
CHR386 Chromosome 6pter-P24 Deletion Syndrome 35 2.264
68
FRY001 Frey Syndrome 35 2.264
69
c ADL008 Adult Oligodendroglioma 35 2.264
70
OBS004 Obstructive Hydrocephalus 34 2.264
71
DDN005 Duodenal Somatostatinoma 34 2.264
72
PLC004 Pilocytic Astrocytoma of Cerebellum 34 2.264
73
INT004 Intraneural Perineurioma 33 2.264
74
TLS001 Tolosa-Hunt Syndrome 33 2.264
75
PLM005 Pleomorphic Lipoma 32 2.264
76
MLG005 Malignant Spindle Cell Melanoma 32 2.264
77
EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 30 2.264
78
ATY004 Atypical Neurofibroma 30 2.264
79
c CHR094 Chronic Polyneuropathy 29 2.264
80
NPH006 Nephrogenic Adenofibroma 28 2.264
81
HYP048 Hypotropia 27 2.264
82
CRB031 Cerebral Arterial Disease 27 2.264
83
IMM002 Immature Cataract 27 2.264
84
SCL014 Scleral Staphyloma 26 2.264
85
ORB011 Orbit Rhabdomyosarcoma 25 2.264
86
MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 24 2.264
87
SBC002 Subclavian Artery Aneurysm 24 2.264
88
GLF001 Gliofibroma 23 2.264
89
CHL062 Childhood Pilocytic Astrocytoma 21 2.264
90
P SPN039 Spinal Canal and Spinal Cord Meningioma 20 2.264
91
ORB002 Orbit Embryonal Rhabdomyosarcoma 19 2.264
92
PLS001 Pulsating Exophthalmos 16 2.264
93
VGS002 Vagus Nerve Neoplasm 14 2.264
94
EQT001 Equatorial Staphyloma 9 2.264
95
c TBR024 Tuberous Sclerosis-1 63 1.913
96
ORG010 Organ System Benign Neoplasm 31 1.873
97
EXP001 Expressive Language Disorder 29 1.873
98
PLN006 Poland Syndrome 54 1.849
99
PRG097 Paragangliomas 1, with or Without Deafness 54 1.849
100
HYL004 Hyaline Fibromatosis Syndrome 38 1.849
101
LNT008 Lentiginosis, Inherited Patterned 34 1.849
102
SPL005 Splenic Artery Aneurysm 32 1.849
103
BRN031 Brain Germinoma 31 1.849
104
P INT260 Intracranial Berry Aneurysm 27 1.849
105
c ANR027 Aneurysm, Intracranial Berry, 1 21 1.849
106
CFL005 Cafe-Au-Lait Spots, Multiple 24 1.476
107
ATS270 Autosomal Dominant Café Au Lait Spots 10 1.450
108
c JVN056 Juvenile Myelomonocytic Leukemia, Somatic Nf1-Related 8 1.339
109
NRM005 Neuromuscular Disease 56 0.228
110
PRP019 Peripheral Nervous System Disease 55 0.228
111
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.228
112
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 29 0.228
113
PRP010 Prepuce Cancer 15 0.228
114
HRD059 Hereditary Peripheral Nervous Disorder 11 0.228
115
P GLM045 Glioma 60 0.175
116
P LKM002 Leukemia 71 0.170
117
CHL071 Child Syndrome 58 0.156
118
KDS001 Kid Syndrome 53 0.156
119
CSY001 C Syndrome 50 0.123
120
OCL009 Ocular Cancer 59 0.110
121
PRM243 Primary Bone Cancer 29 0.110
122
CLL006 Cellular Neurofibroma 28 0.110
123
MLN008 Melanoma 62 0.103
124
NRN002 Neuronitis 41 0.103
125
BNC003 Bone Cancer 58 0.096
126
LRN003 Learning Disability 49 0.096
127
c CNT068 Central Pain Syndrome 29 0.096
128
SKN016 Skin Disease 66 0.087
129
P SHR029 Short Syndrome 58 0.087
130
OPT006 Optic Nerve Disease 52 0.087
131
PRD011 Proud Syndrome 42 0.087
132
SPC010 Speech and Communication Disorders 41 0.087
133
CVT001 Cavitary Optic Disc Anomalies 31 0.087
134
FST001 Foster-Kennedy Syndrome 31 0.087
135
P GLB002 Glioblastoma 68 0.078
136
P MYL006 Myeloid Leukemia 66 0.078
137
BRC012 Brucellosis 66 0.078
138
WLL006 Wells Syndrome 59 0.078
139
P SCL018 Scoliosis 55 0.078
140
GDS001 Good Syndrome 44 0.078
141
SPN040 Spinal Cancer 39 0.078
142
SPN369 Spinal Disease 39 0.078
143
ALR002 Al-Raqad Syndrome 36 0.078
144
RDN001 Reading Disorder 34 0.078
145
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.078
146
P BNG072 Benign Peripheral Nerve Sheath Tumor 16 0.078
147
P MDL005 Medulloblastoma 77 0.068
148
P NRB001 Neuroblastoma 70 0.068
149
TST021 Testicular Germ Cell Tumor 69 0.068
150
EWN003 Ewing Sarcoma 66 0.068
151
SRC014 Sarcoma 66 0.068
152
c ACT073 Acute Leukemia 60 0.068
153
P ORL007 Oral Cavity Cancer 59 0.068
154
P FNC043 Fanconi Anemia, Complementation Group E 55 0.068
155
GLM004 Gliomatosis Cerebri 49 0.068
156
PLS009 Plasma Cell Neoplasm 48 0.068
157
ACR041 Acromelic Frontonasal Dysostosis 45 0.068
158
P SKN013 Skin Benign Neoplasm 43 0.068
159
BRT030 Birth Defects 43 0.068
160
END072 Endotheliitis 42 0.068
161
AYM001 Ayme-Gripp Syndrome 41 0.068
162
P DYS005 Dyslexia 37 0.068
163
c CNG031 Congenital Nervous System Abnormality 37 0.068
164
MTR007 Motor Peripheral Neuropathy 37 0.068
165
GRM001 Germ Cell and Embryonal Cancer 36 0.068
166
FCL011 Facial Nerve Disease 36 0.068
167
GLB003 Globe Disease 32 0.068
168
GNC005 Geniculate Ganglionitis 27 0.068
169
c DYS121 Dyslexia 1 23 0.068
170
c DYS120 Dyslexia 2 22 0.068
171
FCL002 Facial Nerve Neoplasm 14 0.068
172
P LNG032 Lung Cancer 95 0.055
173
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.055
174
P NRV007 Nervous System Disease 71 0.055
175
BRN028 Brain Cancer 70 0.055
176
PRP027 Peripheral Vascular Disease 68 0.055
177
P MYP004 Myopathy 67 0.055
178
RBR001 Roberts Syndrome 60 0.055
179
P EXN002 Exanthem 57 0.055
180
c CWD006 Cowden Syndrome 1 57 0.055
181
SFT003 Soft Tissue Sarcoma 57 0.055
182
EXF001 Exfoliation Syndrome 57 0.055
183
ORL011 Oral Cancer 56 0.055
184
ERY003 Erythema Multiforme 55 0.055
185
P THY032 Thyroiditis 54 0.055
186
VSC006 Vascular Cancer 51 0.055
187
BNF002 Bone Fracture 50 0.055
188
GNG002 Ganglioneuroma 47 0.055
189
HRT007 Heart Cancer 46 0.055
190
P PLN008 Peeling Skin Syndrome 45 0.055
191
ACD009 Acid-Labile Subunit, Deficiency of 45 0.055
192
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 44 0.055
193
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.055
194
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 41 0.055
195
IDP070 Idiopathic Scoliosis 41 0.055
196
c PLN018 Peeling Skin Syndrome 2 40 0.055
197
ADR009 Adrenal Cortex Disease 39 0.055
198
P CNT036 Central Nervous System Germ Cell Tumor 37 0.055
199
c PLN017 Peeling Skin Syndrome 1 34 0.055
200
P HRT017 Heart Tumor 32 0.055
201
IRS003 Iris Disease 31 0.055
202
P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 30 0.055
203
ADL086 Adolescent Idiopathic Scoliosis 30 0.055
204
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.055
205
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.055
206
c ADL079 Adult Heart Tumor 16 0.055
207
c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 15 0.055
208
HRT029 Heart Tumor of the Child 15 0.055
209
c FML303 Familial/multiple Cancer 14 0.055
210
NRF006 Neurofibroma of the Heart 13 0.055
211
GST053 Gastric Cancer 78 0.039
212
P HYP607 Hypercholesterolemia, Familial 76 0.039
213
c LKM061 Leukemia, Acute Myeloid 73 0.039
214
P ADN016 Adenocarcinoma 69 0.039
215
P LYM118 Lymphoma 69 0.039
216
PCK002 Pick Disease 68 0.039
217
DWN001 Down Syndrome 66 0.039
218
CNT098 Central Core Disease 65 0.039
219
HMT002 Hematologic Cancer 64 0.039
220
P ANR002 Aniridia 64 0.039
221
c LKM062 Leukemia, Acute Lymphoblastic 64 0.039
222
P OST002 Osteoporosis 64 0.039
223
ALC007 Alcohol Dependence 63 0.039
224
P OST001 Osteopetrosis 63 0.039
225
CNN005 Connective Tissue Disease 62 0.039
226
P LYM026 Lymphoblastic Leukemia 62 0.039
227
ISC004 Ischemia 61 0.039
228
P MYM002 Moyamoya Disease 61 0.039
229
MTC007 Mitochondrial Complex I Deficiency 61 0.039
230
EYD002 Eye Disease 61 0.039
231
MCR013 Microphthalmia 60 0.039
232
P GST049 Gastrointestinal System Cancer 60 0.039
233
P UVL004 Uveal Melanoma 60 0.039
234
P HMN010 Hemangioma 59 0.039
235
P ENC018 Encephalopathy 59 0.039
236
P NRP001 Neuropathy 59 0.039
237
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.039
238
MYL031 Myeloproliferative Neoplasm 58 0.039
239
P HYP069 Hyperparathyroidism 58 0.039
240
MSM014 Mismatch Repair Cancer Syndrome 57 0.039
241
CTS003 Coats Disease 57 0.039
242
ETH011 Ethylmalonic Encephalopathy 56 0.039
243
PLS011 Plasmacytoma 56 0.039
244
P ACT074 Acute Lymphocytic Leukemia 56 0.039
245
P LYM033 Lymphoproliferative Syndrome 56 0.039
246
P OLG002 Oligodendroglioma 56 0.039
247
P PLY019 Polyneuropathy 56 0.039
248
CHR285 Chronic Myelomonocytic Leukemia 56 0.039
249
GST050 Gastrointestinal System Disease 56 0.039
250
P TMT001 Timothy Syndrome 55 0.039
251
PPL022 Papilloma 55 0.039
252
P SLV001 Silver-Russell Syndrome 54 0.039
253
CHN016 Cohen Syndrome 54 0.039
254
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 53 0.039
255
FRB001 Farber Lipogranulomatosis 53 0.039
256
LYM040 Lymphoblastic Lymphoma 53 0.039
257
SCT005 Scott Syndrome 53 0.039
258
ANG020 Angiosarcoma 53 0.039
259
P CNT005 Central Nervous System Lymphoma 53 0.039
260
LYM019 Lymphosarcoma 53 0.039
261
PRV006 Pervasive Developmental Disorder 53 0.039
262
ADL002 Adult Syndrome 52 0.039
263
ALL026 Allergic Hypersensitivity Disease 52 0.039
264
MGL013 Megalencephaly 52 0.039
265
LYM024 Lymphatic System Disease 52 0.039
266
SMT008 Smith-Magenis Syndrome 52 0.039
267
P CPL006 Capillary Hemangioma 51 0.039
268
CRS005 Crest Syndrome 51 0.039
269
P PRC019 Precocious Puberty 51 0.039
270
c MLG068 Malignant Glioma 51 0.039
271
GNT002 Giant Cell Glioblastoma 51 0.039
272
STM006 Stomach Disease 50 0.039
273
RDC002 Radiculopathy 50 0.039
274
MST017 Mast Cell Disease 50 0.039
275
c LKM060 Leukemia, Acute Lymphoblastic 3 50 0.039
276
IMG001 Image Syndrome 50 0.039
277
P CHR345 Chronic Pain 50 0.039
278
c LYM107 Lymphoproliferative Syndrome 2 50 0.039
279
MSC072 Muscle Cancer 49 0.039
280
c PRM226 Primary Central Nervous System Lymphoma 49 0.039
281
c INH020 Inherited Metabolic Disorder 49 0.039
282
MYL003 Myeloid Sarcoma 48 0.039
283
MSS002 Mass Syndrome 48 0.039
284
BRN032 Brain Glioma 48 0.039
285
VND001 Vein Disease 47 0.039
286
LPM005 Lipomatosis 47 0.039
287
P GLM040 Glioma Susceptibility 1 47 0.039
288
PRL017 Prolymphocytic Leukemia 47 0.039
289
ADR038 Adermatoglyphia 46 0.039
290
P CRN035 Cranial Nerve Palsy 46 0.039
291
INC022 Inclusion-Cell Disease 46 0.039
292
FBR054 Fibroma 46 0.039
293
SNS003 Sensory Peripheral Neuropathy 45 0.039
294
VSC047 Vascular Malformation 45 0.039
295
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.039
296
ALN001 Aland Island Eye Disease 45 0.039
297
LYM067 Lymphoid Leukemia 44 0.039
298
SKN023 Skin Tag 44 0.039
299
c ADL052 Adult Acute Lymphocytic Leukemia 44 0.039
300
FBR019 Fibromatosis 43 0.039
301
PHY002 Physical Disorder 43 0.039
302
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.039
303
SNS023 Sensory System Cancer 43 0.039
304
MST006 Mast Syndrome 43 0.039
305
c HYP073 Hypersensitivity Reaction Type Iv Disease 43 0.039
306
PLM020 Pleomorphic Xanthoastrocytoma 42 0.039
307
GLM008 Glomus Tumor 42 0.039
308
c CHR064 Chronic Monocytic Leukemia 42 0.039
309
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.039
310
PRM025 Primary Bacterial Infectious Disease 41 0.039
311
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 0.039
312
SPC005 Speech Disorder 41 0.039
313
P CNN004 Connective Tissue Cancer 40 0.039
314
P PRG017 Paraganglioma and Gastric Stromal Sarcoma 40 0.039
315
CRN031 Cranial Nerve Disease 40 0.039
316
BND014 Bone Development Disease 40 0.039
317
CPL007 Capillary Malformation-Arteriovenous Malformation 40 0.039
318
MST004 Mast Cell Neoplasm 40 0.039
319
CRB009 Cerebritis 39 0.039
320
OVR105 Ovarian Serous Carcinoma 39 0.039
321
c CLL012 Cell Type Benign Neoplasm 39 0.039
322
c ADL001 Adult Lymphoma 39 0.039
323
P BNG071 Benign Schwannoma 38 0.039
324
P HYP265 Hypotonia 38 0.039
325
BLD054 Blood Protein Disease 37 0.039
326
c CHR579 Chiari Malformation Type Ii 37 0.039
327
PHY007 Phyllode Tumor 37 0.039
328
CLD014 Cole Disease 37 0.039
329
CNT018 Central Nervous System Leukemia 37 0.039
330
HRT010 Heart Sarcoma 37 0.039
331
NSY001 N Syndrome 36 0.039
332
NTR005 Nutritional Deficiency Disease 36 0.039
333
DVL001 Developmental Coordination Disorder 36 0.039
334
PDT025 Pediatric Multiple Sclerosis 36 0.039
335
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.039
336
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.039
337
ENC010 Encephalocraniocutaneous Lipomatosis 35 0.039
338
c ACT020 Acute T Cell Leukemia 35 0.039
339
PLY024 Polymicrogyria 35 0.039
340
INT038 Interdigitating Dendritic Cell Sarcoma 35 0.039
341
PHT003 Phototoxic Dermatitis 35 0.039
342
MSN004 Mesenchymal Cell Neoplasm 34 0.039
343
ACR002 Acrocapitofemoral Dysplasia 33 0.039
344
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 33 0.039
345
CRB159 Cerebral Visual Impairment 33 0.039
346
LYM023 Lymphatic System Cancer 33 0.039
347
P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 32 0.039
348
c CNN010 Connective Tissue Benign Neoplasm 32 0.039
349
BNL002 Bone Lymphoma 32 0.039
350
c LYM106 Lymphoproliferative Syndrome 1 32 0.039
351
NRV004 Nerve Compression Syndrome 31 0.039
352
CBB002 Cobb Syndrome 30 0.039
353
ACT118 Acute Non Lymphoblastic Leukemia 30 0.039
354
HRT003 Heart Lymphoma 30 0.039
355
c PLN021 Peeling Skin Syndrome 3 29 0.039
356
P SPC019 Specific Language Impairment 28 0.039
357
CRN033 Cranial Nerve Malignant Neoplasm 28 0.039
358
BNB001 Bone Benign Neoplasm 27 0.039
359
PRM151 Primary Bone Lymphoma 26 0.039
360
YNG002 Young Syndrome 26 0.039
361
c INH015 Inherited Acute Myeloid Leukemia 25 0.039
362
FCL064 Facial Dysmorphism with Multiple Malformations 23 0.039
363
c MLT124 Multiple Sclerosis 5 23 0.039
364
HMH004 Hemihyperplasia, Isolated 23 0.039
365
URC003 Urachal Adenocarcinoma 22 0.039
366
ACT228 Acute Radiation Syndrome 20 0.039
367
c LKM055 Leukemia, Acute Lymphoblastic 2 19 0.039
368
CNT010 Central Nervous System Hematologic Cancer 18 0.039
369
HPS001 Hip Subluxation 18 0.039
370
CTN020 Cutaneous Sclerosis 17 0.039
371
CNT045 Central Nervous System Sarcoma 16 0.039
372
BNM008 Bone Mineral Density, Low 16 0.039
373
c TMT004 Timothy Syndrome Type 1 16 0.039
374
c CNG120 Congenital Pseudoarthrosis 15 0.039
375
c ATS172 Autism 10 15 0.039
376
LYM126 Lymphoma Aids Related 15 0.039
377
WSC001 Wisconsin Syndrome 14 0.039
378
CNG284 Congenital Pseudoarthrosis of the Tibia 14 0.039
379
LNG027 Long Bones of Lower Limb Cancer 14 0.039
380
PNS017 Pens Syndrome 12 0.039
381
c DYS122 Dyslexia 3 11 0.039
382
PRT056 Protein R Deficiency 10 0.039
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