Search results for hamartoma

379 hits were found for hamartoma

# Family MCID Name MIFTS Score
1
HYP277 Hypothalamic Hamartomas, Somatic 27 4.706
2
PTN006 Pten Hamartoma Tumor Syndrome 41 4.576
3
P CWD001 Cowden Disease 65 4.481
4
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 40 4.468
5
c CWD006 Cowden Syndrome 1 51 3.958
6
PRL032 Perlman Syndrome 50 3.923
7
HPT028 Hepatic Cystic Hamartoma 10 3.923
8
GNT022 Giant Mammary Hamartoma 9 3.097
9
CNG248 Congenital Smooth Muscle Hamartoma 13 2.782
10
CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 19 2.758
11
ANG033 Angiomyomatous Hamartoma 9 2.673
12
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 2.568
13
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.543
14
BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 13 2.529
15
GRH002 Graham Boyle Troxell Syndrome 13 2.477
16
BSL013 Basaloid Follicular Hamartoma 12 2.184
17
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 12 2.110
18
ANG032 Angiomatous Lymphoid Hamartoma 15 1.984
19
PTZ001 Peutz-Jeghers Syndrome 70 1.853
20
P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 4 1.807
21
LNR002 Linear Hamartoma Syndrome 3 1.807
22
P CPL006 Capillary Hemangioma 50 1.788
23
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 5 1.788
24
FLL047 Follicular Hamartoma-Alopecia-Cystic Fibrosis Syndrome 3 1.788
25
LNR012 Linear Verrucous Nevus Syndrome 15 1.765
26
ORS001 Orstavik Lindemann Solberg Syndrome 8 1.765
27
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 55 1.736
28
P PRC019 Precocious Puberty 50 0.239
29
RTN023 Retinitis 49 0.234
30
P EPL164 Epilepsy 65 0.229
31
PLL001 Pallister-Hall Syndrome 56 0.156
32
c CNT075 Central Precocious Puberty 50 0.151
33
P TBR001 Tuberous Sclerosis 67 0.147
34
SRC014 Sarcoma 66 0.134
35
P HMN010 Hemangioma 59 0.124
36
ADN018 Adenoma 58 0.124
37
P HPT021 Hepatitis 68 0.118
38
c BSL007 Basal Cell Carcinoma 64 0.118
39
EMB007 Embryonal Sarcoma 45 0.113
40
TRC052 Trichofolliculoma 14 0.101
41
NRN002 Neuronitis 39 0.094
42
c NRF019 Neurofibromatosis, Type 2 62 0.087
43
P PNC044 Pancreatitis 60 0.087
44
P BCK002 Beckwith-Wiedemann Syndrome 58 0.087
45
MCS002 Mucositis 54 0.087
46
HYP077 Hypertrichosis 48 0.087
47
P MSN006 Mesenchymoma 34 0.087
48
P RNL014 Renal Cell Carcinoma 80 0.080
49
P NRF018 Neurofibromatosis, Type 1 78 0.080
50
P PLR004 Pleuropulmonary Blastoma 58 0.080
51
PRT093 Proteus Syndrome, Somatic 55 0.080
52
c TBR024 Tuberous Sclerosis-1 55 0.080
53
HPT022 Hepatoblastoma 54 0.080
54
P PLY006 Polydactyly 54 0.080
55
P THY032 Thyroiditis 53 0.080
56
HYP108 Hyperparathyroidism-Jaw Tumor Syndrome 48 0.080
57
c ORF037 Orofaciodigital Syndrome I 48 0.080
58
CHR008 Choroiditis 43 0.080
59
BLS003 Blastoma 37 0.080
60
RVL002 Ruvalcaba Syndrome 34 0.080
61
P BRS047 Breast Cancer 100 0.071
62
P ADN016 Adenocarcinoma 69 0.071
63
P LYM007 Lymphangioleiomyomatosis 66 0.071
64
GNG013 Gingivitis 61 0.071
65
NRF007 Neurofibroma 58 0.071
66
P RTN025 Retinoschisis 57 0.071
67
SKN023 Skin Tag 46 0.071
68
NRM004 Neuroma 46 0.071
69
DDN006 Duodenitis 40 0.071
70
P MNN007 Meningocele 35 0.071
71
ODN006 Odontoma 33 0.071
72
CRR015 Curry-Jones Syndrome, Somatic Mosaic 28 0.071
73
MCR013 Microphthalmia 59 0.062
74
P SNS014 Sinusitis 59 0.062
75
DRM014 Dermatofibrosarcoma Protuberans 57 0.062
76
P INT070 Intestinal Obstruction 55 0.062
77
MGL013 Megalencephaly 53 0.062
78
IMP002 Imperforate Anus 52 0.062
79
P FNC043 Fanconi Anemia, Complementation Group E 51 0.062
80
BRT002 Birt-Hogg-Dube Syndrome 50 0.062
81
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 49 0.062
82
GNG004 Ganglioglioma 49 0.062
83
INT051 Intussusception 48 0.062
84
SBP001 Subependymal Giant Cell Astrocytoma 46 0.062
85
ANG018 Angiomyolipoma 45 0.062
86
c ORF034 Orofaciodigital Syndrome Vi 42 0.062
87
CHN010 Chondroma 41 0.062
88
NSP002 Nasopharyngitis 40 0.062
89
CRB009 Cerebritis 39 0.062
90
P MCR241 Microphthalmia, Syndromic 3 34 0.062
91
GGN002 Gigantism 32 0.062
92
ALR002 Al-Raqad Syndrome 29 0.062
93
VRR008 Verrucous Hemangioma 11 0.062
94
P RTN008 Retinitis Pigmentosa 80 0.050
95
GST019 Gastrointestinal Stromal Tumor 74 0.050
96
P MDL005 Medulloblastoma 73 0.050
97
ULC004 Ulcerative Colitis 72 0.050
98
BSL036 Basal Cell Nevus Syndrome 67 0.050
99
P HYD006 Hydrocephalus 66 0.050
100
P KDN018 Kidney Disease 65 0.050
101
P AST007 Astrocytoma 63 0.050
102
ATS001 Autistic Disorder 63 0.050
103
FBR011 Fibrodysplasia Ossificans Progressiva 63 0.050
104
P PRT010 Parathyroid Carcinoma 61 0.050
105
BRS051 Breast Disease 60 0.050
106
P INT063 Intellectual Disability 58 0.050
107
CLT003 Colitis 58 0.050
108
P CTR002 Cataract 57 0.050
109
LNN001 Lennox-Gastaut Syndrome 57 0.050
110
P HYP069 Hyperparathyroidism 56 0.050
111
TRG002 Trigeminal Neuralgia 56 0.050
112
INT079 Intrahepatic Cholangiocarcinoma 55 0.050
113
NRN004 Neuroendocrine Tumor 55 0.050
114
PLN006 Poland Syndrome 54 0.050
115
PPL022 Papilloma 54 0.050
116
CLB001 Coloboma 54 0.050
117
PLY056 Polyposis, Juvenile Intestinal 53 0.050
118
P LRY019 Laryngitis 53 0.050
119
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 52 0.050
120
ANG020 Angiosarcoma 52 0.050
121
OPT037 Optic Nerve Hypoplasia 51 0.050
122
CYS039 Cystic Kidney Disease 50 0.050
123
RNL078 Renal Dysplasia 50 0.050
124
CLF001 Cleft Lip 49 0.050
125
GNG002 Ganglioneuroma 48 0.050
126
PPL021 Papilledema 47 0.050
127
GNG005 Gangliocytoma 45 0.050
128
RFR010 Refractory Anemia 45 0.050
129
P CRV039 Cervicitis 45 0.050
130
BRN003 Branchiooculofacial Syndrome 45 0.050
131
c BSL024 Basal Cell Carcinoma 1 45 0.050
132
HMM003 Hemimegalencephaly 44 0.050
133
FBR009 Fibrous Dysplasia 44 0.050
134
P AML002 Amelogenesis Imperfecta 44 0.050
135
DRM013 Dermoid Cyst 44 0.050
136
SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 42 0.050
137
END072 Endotheliitis 41 0.050
138
FBR054 Fibroma 41 0.050
139
INV006 Inverted Papilloma 41 0.050
140
HMH002 Hemihypertrophy 40 0.050
141
KDN015 Kidney Angiomyolipoma 40 0.050
142
P SYN012 Synpolydactyly 39 0.050
143
MYF001 Myofibroma 39 0.050
144
JVN033 Juvenile Nasopharyngeal Angiofibroma 39 0.050
145
BZX001 Bazex Syndrome 38 0.050
146
HMN016 Hemangioendothelioma 38 0.050
147
c CNG029 Congenital Mesoblastic Nephroma 38 0.050
148
ANG016 Angiokeratoma 38 0.050
149
MCR019 Microglandular Adenosis 36 0.050
150
HYP022 Hypohidrosis 36 0.050
151
UND001 Undifferentiated Embryonal Sarcoma of the Liver 35 0.050
152
c CNG004 Congenital Epulis 33 0.050
153
ANG037 Angiomatosis 32 0.050
154
P EPL003 Epulis 31 0.050
155
SHR098 Short-Rib Thoracic Dysplasia 12 27 0.050
156
P PRT063 Proteus-Like Syndrome 27 0.050
157
c ORF035 Orofaciodigital Syndrome Iv 26 0.050
158
NVS016 Nevus Comedonicus, Somatic 25 0.050
159
INF028 Infundibulocystic Basal Cell Carcinoma 25 0.050
160
BCK005 Becker Nevus Syndrome 24 0.050
161
c CWD005 Cowden Syndrome 4 23 0.050
162
INT049 Intrahepatic Bile Duct Adenoma 23 0.050
163
c ORF043 Orofaciodigital Syndrome Ix 21 0.050
164
c TRC095 Trichoepithelioma, Multiple Familial, 1 19 0.050
165
PSD079 Pseudoangiomatous Stromal Hyperplasia 17 0.050
166
AND005 Androgen Insensitivity Syndrome, Mild 16 0.050
167
CNG238 Congenital Panfollicular Nevus 12 0.050
168
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 10 0.050
169
P LNG032 Lung Cancer 94 0.036
170
CYS001 Cystic Fibrosis 86 0.036
171
P PNC035 Pancreatic Cancer 84 0.036
172
NRL016 Neural Tube Defects 76 0.036
173
P LVR013 Liver Disease 72 0.036
174
MLN008 Melanoma 70 0.036
175
P LYM118 Lymphoma 69 0.036
176
SVR004 Severe Combined Immunodeficiency 69 0.036
177
P CRD011 Cardiomyopathy 67 0.036
178
P MYS003 Myasthenia Gravis 67 0.036
179
P ANR002 Aniridia 66 0.036
180
P TRN020 Turner Syndrome 65 0.036
181
P KDN017 Kidney Cancer 65 0.036
182
P HLP001 Holoprosencephaly 65 0.036
183
P BCL006 B-Cell Lymphomas 64 0.036
184
EWN003 Ewing Sarcoma 64 0.036
185
P OST001 Osteopetrosis 63 0.036
186
AND015 Androgen Insensitivity 63 0.036
187
P CNJ013 Conjunctivitis 63 0.036
188
CNG368 Congenital Adrenal Hyperplasia 63 0.036
189
CRY002 Cryptorchidism 61 0.036
190
DFC004 Deficiency Anemia 60 0.036
191
PRT036 Peritonitis 60 0.036
192
CHR072 Chordoma 60 0.036
193
HYP020 Hyperprolactinemia 59 0.036
194
CHL071 Child Syndrome 59 0.036
195
P GLM045 Glioma 59 0.036
196
ELL001 Ellis-Van Creveld Syndrome 59 0.036
197
RHB003 Rhabdomyosarcoma 58 0.036
198
CTS003 Coats Disease 58 0.036
199
P PLC011 Pilocytic Astrocytoma 57 0.036
200
P ORL007 Oral Cavity Cancer 57 0.036
201
ANR040 Aneurysm 57 0.036
202
KDS001 Kid Syndrome 57 0.036
203
ADL002 Adult Syndrome 57 0.036
204
ART017 Aortic Disease 57 0.036
205
P SCL018 Scoliosis 56 0.036
206
ORL011 Oral Cancer 56 0.036
207
KLP010 Klippel-Trenaunay-Weber Syndrome 55 0.036
208
P OLG002 Oligodendroglioma 55 0.036
209
MCK005 Mckusick-Kaufman Syndrome 55 0.036
210
P HST010 Histiocytosis 54 0.036
211
P LMY004 Leiomyosarcoma 54 0.036
212
ALP008 Alopecia 54 0.036
213
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 53 0.036
214
LMY002 Leiomyoma 53 0.036
215
PNM008 Pneumothorax 53 0.036
216
P ATR001 Atrioventricular Septal Defect 52 0.036
217
LYM022 Lymphangioma 51 0.036
218
MCR088 Microscopic Polyangiitis 51 0.036
219
MRG003 Marginal Zone B-Cell Lymphoma 51 0.036
220
P TRC086 Trichohepatoenteric Syndrome 1 51 0.036
221
IRN001 Iron Deficiency Anemia 51 0.036
222
P TRT010 Teratoma 51 0.036
223
c LPM012 Lipomatosis, Multiple 50 0.036
224
CHR101 Char Syndrome 50 0.036
225
P CRN108 Cranioectodermal Dysplasia 1 50 0.036
226
c LRG001 Large Cell Carcinoma 50 0.036
227
CRB045 Cerebellar Hypoplasia 50 0.036
228
MRK001 Merkel Cell Carcinoma 50 0.036
229
P PLY023 Polycystic Liver Disease 49 0.036
230
CLN015 Colon Adenocarcinoma 49 0.036
231
SPH001 Sapho Syndrome 49 0.036
232
ISL001 Islet Cell Tumor 48 0.036
233
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.036
234
EPD053 Epidermal Nevus, Somatic 48 0.036
235
P DDN001 Duodenal Ulcer 48 0.036
236
P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 48 0.036
237
GRW007 Growth Hormone Deficiency 48 0.036
238
P LPM005 Lipomatosis 48 0.036
239
OBS001 Obstructive Jaundice 48 0.036
240
MYL003 Myeloid Sarcoma 47 0.036
241
LBL001 Lobular Neoplasia 47 0.036
242
CHL004 Cholelithiasis 47 0.036
243
ECT078 Ectodermal Dysplasia 2, Clouston Type 47 0.036
244
GYN001 Gynecomastia 47 0.036
245
HYP063 Hypersplenism 47 0.036
246
PLY012 Polyhydramnios 46 0.036
247
TRC040 Tracheoesophageal Fistula 46 0.036
248
INF058 Inflammatory Myofibroblastic Tumor 46 0.036
249
P HYP087 Hypotrichosis 45 0.036
250
CMP034 Complete Androgen Insensitivity Syndrome 44 0.036
251
ADN001 Adenosine Deaminase Deficiency 44 0.036
252
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44 0.036
253
P SDR002 Siderosis 44 0.036
254
c JVN003 Juvenile Xanthogranuloma 44 0.036
255
HPT074 Hepatic Adenoma, Somatic 44 0.036
256
FCL072 Focal Cortical Dysplasia, Type Ii, Somatic 44 0.036
257
HYD012 Hydrops Fetalis 43 0.036
258
c ORF040 Orofaciodigital Syndrome Viii 43 0.036
259
c HYP507 Hypotrichosis 1 43 0.036
260
P HYP729 Hypersensitivity Reaction Disease 43 0.036
261
FBR019 Fibromatosis 43 0.036
262
c JVN009 Juvenile Pilocytic Astrocytoma 43 0.036
263
P ART084 Arteriovenous Fistula 43 0.036
264
CRN055 Carney Triad 42 0.036
265
LFT009 Left Ventricular Outflow Tract Obstruction 42 0.036
266
DYS018 Dysostosis 42 0.036
267
DYS164 Dyskeratosis Congenita, X-Linked 42 0.036
268
STT007 Steatocystoma Multiplex 42 0.036
269
SYN031 Synovial Chondromatosis 42 0.036
270
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 42 0.036
271
SYR002 Syringocystadenoma Papilliferum 41 0.036
272
MYC033 Myoclonus 41 0.036
273
ARC002 Arachnoiditis 41 0.036
274
P OSS001 Ossifying Fibroma 41 0.036
275
SPR008 Supratentorial Primitive Neuroectodermal Tumor 41 0.036
276
GLM008 Glomus Tumor 41 0.036
277
P HYP263 Hypersomnia 40 0.036
278
ANR009 Aneurysmal Bone Cysts 40 0.036
279
CYS009 Cystadenoma 40 0.036
280
GST071 Gastrointestinal Carcinoma 40 0.036
281
c PLY057 Polydactyly, Postaxial, Types A1 and B 40 0.036
282
GLS018 Glass Syndrome 39 0.036
283
CHL052 Choledochal Cyst 39 0.036
284
RNL025 Renal Hypoplasia 39 0.036
285
PLX002 Plexiform Neurofibroma 39 0.036
286
SCL017 Sclerosing Hemangioma 39 0.036
287
PLM018 Pulmonary Sclerosing Hemangioma 38 0.036
288
ARC007 Arachnoid Cysts 38 0.036
289
SBP002 Subependymal Glioma 38 0.036
290
P HMF004 Hemifacial Spasm 37 0.036
291
CRP010 Corpus Callosum Agenesis 37 0.036
292
CRN046 Corneal Fleck Dystrophy 37 0.036
293
SMT002 Smooth Muscle Tumor 37 0.036
294
ADR038 Adermatoglyphia 37 0.036
295
BLR027 Blue Rubber Bleb Nevus 37 0.036
296
WYR002 Weyers Acrofacial Dysostosis 37 0.036
297
WBR001 Weber Syndrome 36 0.036
298
MYX007 Myxosarcoma 36 0.036
299
EST004 Estrogen Excess 36 0.036
300
c KDN016 Kidney Benign Neoplasm 36 0.036
301
ANK008 Ankyloglossia 35 0.036
302
LVR014 Liver Sarcoma 35 0.036
303
MCK002 Meckel's Diverticulum 35 0.036
304
CLC011 Cloacal Exstrophy 35 0.036
305
SPN006 Spindle Cell Lipoma 34 0.036
306
PNC053 Pancreatic Islet Cell Tumors 34 0.036
307
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34 0.036
308
ASP008 Aspiration Pneumonitis 34 0.036
309
c SZR008 Seizures, Benign Neonatal, 1 34 0.036
310
P LSS024 Lissencephaly with Cerebellar Hypoplasia 34 0.036
311
EPT011 Epithelioid Leiomyosarcoma 33 0.036
312
PRR004 Preretinal Fibrosis 33 0.036
313
VSL002 Visual Epilepsy 33 0.036
314
HPT006 Hepatic Angiomyolipoma 33 0.036
315
c BNG030 Benign Ependymoma 33 0.036
316
PSD008 Pseudopapilledema 33 0.036
317
CBB002 Cobb Syndrome 33 0.036
318
DYS048 Dysplasia Epiphysealis Hemimelica 33 0.036
319
OBS004 Obstructive Hydrocephalus 33 0.036
320
NRF016 Neurofibromatosis, Familial Spinal 33 0.036
321
SPR066 Superficial Siderosis 33 0.036
322
P CYS007 Cystic Nephroma 33 0.036
323
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.036
324
MCR096 Macrocephaly/autism Syndrome 32 0.036
325
FTD001 Foot Drop 32 0.036
326
LYM095 Lymphangiomatosis 32 0.036
327
DDN009 Duodenal Obstruction 31 0.036
328
MHR002 Mohr Syndrome 31 0.036
329
c HRD020 Hereditary Renal Cell Carcinoma 31 0.036
330
GST039 Gastroduodenitis 30 0.036
331
FCL003 Facial Hemiatrophy 29 0.036
332
BRN055 Bronchogenic Cyst 28 0.036
333
SPN012 Spindle Cell Hemangioma 28 0.036
334
c CWD008 Cowden Syndrome 6 28 0.036
335
ADN064 Adenohypophysitis 28 0.036
336
MLT003 Multilocular Clear Cell Renal Cell Carcinoma 28 0.036
337
DST008 Diastematomyelia 27 0.036
338
DPH006 Diaphragmatic Eventration 27 0.036
339
ENP001 Enophthalmos 27 0.036
340
P PSD086 Pseudoarthrosis 27 0.036
341
CLL036 Culler-Jones Syndrome 26 0.036
342
CRV037 Cervical Mucinous Adenocarcinoma 26 0.036
343
SPR032 Superficial Siderosis of the Central Nervous System 26 0.036
344
c CWD004 Cowden Syndrome 5 26 0.036
345
ANG004 Angioid Streaks 26 0.036
346
c MNS008 Monosomy 21 25 0.036
347
c CWD003 Cowden Syndrome 2 25 0.036
348
c PLY121 Polydactyly, Preaxial, Type Iv 24 0.036
349
c ORF036 Orofaciodigital Syndrome Xiv 24 0.036
350
UTR031 Uterine Benign Neoplasm 24 0.036
351
SKN002 Skin Lipoma 24 0.036
352
c CWD007 Cowden Syndrome 3 23 0.036
353
TBR003 Tuberculous Epididymitis 23 0.036
354
GLF001 Gliofibroma 23 0.036
355
GGN004 Gigantomastia 22 0.036
356
SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 22 0.036
357
ACR017 Acrofacial Dysostosis 21 0.036
358
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 21 0.036
359
c RPR001 Reproductive Organ Benign Neoplasm 21 0.036
360
MLN009 Melanotic Neurilemmoma 20 0.036
361
NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 19 0.036
362
c CWD009 Cowden Syndrome 7 19 0.036
363
P CTS012 Cutis Verticis Gyrata 19 0.036
364
INF048 Infantile Histiocytoid Cardiomyopathy 19 0.036
365
STR029 Sternal Cleft 18 0.036
366
c ARC017 Auriculocondylar Syndrome 3 18 0.036
367
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 17 0.036
368
EPG004 Epignathus 16 0.036
369
ANG024 Angiofollicular Lymph Hyperplasia 16 0.036
370
c ATS172 Autism 10 16 0.036
371
c ORF046 Orofaciodigital Syndrome Xvi 16 0.036
372
CRV014 Cervical Adenoma Malignum 15 0.036
373
c CNG120 Congenital Pseudoarthrosis 14 0.036
374
BLD035 Bile Duct Cystadenoma 11 0.036
375
CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 10 0.036
376
MCR034 Macrodactyly of the Foot 8 0.036
377
ABS002 Absence of Gluteal Muscle 8 0.036
378
MLT051 Multiple Fibrofolliculoma Familial 6 0.036
379
c PTN005 Pten-Related Proteus Syndrome 4 0.036
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