Search results for hamartoma

433 hits were found for hamartoma

# Family MCID Name MIFTS Score
1
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 6.263
2
HYP231 Hypothalamic Hamartomas 49 5.931
3
c CWD006 Cowden Syndrome 1 54 4.659
4
PTN006 Pten Hamartoma Tumor Syndrome 38 4.558
5
P CWD001 Cowden Disease 67 4.435
6
HPT028 Hepatic Cystic Hamartoma 14 3.940
7
PRL032 Perlman Syndrome 44 3.908
8
BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 19 3.113
9
GNT022 Giant Mammary Hamartoma 6 3.092
10
CNG248 Congenital Smooth Muscle Hamartoma 15 2.761
11
CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 21 2.744
12
ANG033 Angiomyomatous Hamartoma 12 2.660
13
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 2.564
14
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 6 2.529
15
HMR044 Hamartoma, Precalcaneal Congenital Fibrolipomatous 11 2.516
16
GRH002 Graham Boyle Troxell Syndrome 15 2.468
17
BSL013 Basaloid Follicular Hamartoma 15 2.162
18
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 13 2.094
19
ANG032 Angiomatous Lymphoid Hamartoma 18 1.971
20
PTZ001 Peutz-Jeghers Syndrome 70 1.841
21
P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 6 1.813
22
P CPL006 Capillary Hemangioma 56 1.797
23
LNR002 Linear Hamartoma Syndrome 3 1.797
24
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 3 1.779
25
NVS017 Nevus, Epidermal 66 1.758
26
LNR012 Linear Verrucous Nevus Syndrome 16 1.758
27
ORS001 Orstavik Lindemann Solberg Syndrome 8 1.758
28
P PRC019 Precocious Puberty 52 0.229
29
P EPL164 Epilepsy 70 0.226
30
RTN023 Retinitis 52 0.226
31
PLL001 Pallister-Hall Syndrome 59 0.162
32
c CNT075 Central Precocious Puberty 52 0.147
33
P TBR001 Tuberous Sclerosis 69 0.139
34
SRC014 Sarcoma 68 0.131
35
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.126
36
c BSL007 Basal Cell Carcinoma 66 0.126
37
ADN018 Adenoma 63 0.122
38
P HMN010 Hemangioma 61 0.122
39
P HPT021 Hepatitis 75 0.117
40
P NRF023 Neurofibromatosis, Type Ii 69 0.117
41
P ANR048 Aniridia 1 68 0.117
42
EMB007 Embryonal Sarcoma 47 0.112
43
ANR038 Anorexia Nervosa 1 21 0.112
44
BLD137 Blood Group--Ahonen 17 0.112
45
c TBR025 Tuberous Sclerosis 1 63 0.107
46
c BSL024 Basal Cell Carcinoma 1 42 0.107
47
HYP077 Hypertrichosis 49 0.101
48
NRN002 Neuronitis 43 0.101
49
TRC052 Trichofolliculoma 16 0.101
50
P PRT008 Proteus Syndrome 67 0.089
51
P PNC044 Pancreatitis 64 0.089
52
MCS002 Mucositis 61 0.089
53
P BCK002 Beckwith-Wiedemann Syndrome 58 0.089
54
P PLY006 Polydactyly 57 0.089
55
P THY032 Thyroiditis 56 0.089
56
P MSN006 Mesenchymoma 37 0.089
57
P PLR004 Pleuropulmonary Blastoma 62 0.083
58
HPT022 Hepatoblastoma 55 0.083
59
CHR008 Choroiditis 47 0.083
60
BLS003 Blastoma 40 0.083
61
RVL002 Ruvalcaba Syndrome 37 0.083
62
P BRS047 Breast Cancer 100 0.075
63
P ADN016 Adenocarcinoma 71 0.075
64
CHL065 Cholangiocarcinoma 70 0.075
65
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.075
66
LYM007 Lymphangioleiomyomatosis 68 0.075
67
NRF007 Neurofibroma 65 0.075
68
CRP001 Carpal Tunnel Syndrome 64 0.075
69
GNG013 Gingivitis 64 0.075
70
c ORF037 Orofaciodigital Syndrome I 51 0.075
71
NRM004 Neuroma 51 0.075
72
HYP741 Hyperparathyroidism 2 with Jaw Tumors 49 0.075
73
NSP002 Nasopharyngitis 46 0.075
74
DDN006 Duodenitis 46 0.075
75
c WLM011 Wilms Tumor 6 44 0.075
76
c CNG029 Congenital Mesoblastic Nephroma 43 0.075
77
SKN023 Skin Tag 41 0.075
78
CRB009 Cerebritis 41 0.075
79
P MNN007 Meningocele 38 0.075
80
MNN028 Mononeuropathy of the Median Nerve, Mild 35 0.075
81
ODN006 Odontoma 35 0.075
82
NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 27 0.075
83
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.075
84
P HYD006 Hydrocephalus 68 0.067
85
P AST007 Astrocytoma 66 0.067
86
c LPM012 Lipomatosis, Multiple 64 0.067
87
DRM014 Dermatofibrosarcoma Protuberans 63 0.067
88
P SNS014 Sinusitis 62 0.067
89
MCR013 Microphthalmia 61 0.067
90
CLF027 Cleft Palate, Isolated 61 0.067
91
LNN001 Lennox-Gastaut Syndrome 59 0.067
92
P INT070 Intestinal Obstruction 55 0.067
93
LNT004 Lentigines 52 0.067
94
P FNC043 Fanconi Anemia, Complementation Group E 52 0.067
95
INT051 Intussusception 51 0.067
96
GNG004 Ganglioglioma 51 0.067
97
CHN010 Chondroma 44 0.067
98
GGN002 Gigantism 36 0.067
99
c ORF035 Orofaciodigital Syndrome Iv 34 0.067
100
CRR017 Curry-Jones Syndrome 33 0.067
101
ALR002 Al-Raqad Syndrome 30 0.067
102
VRR008 Verrucous Hemangioma 12 0.067
103
P RTN008 Retinitis Pigmentosa 81 0.058
104
ULC004 Ulcerative Colitis 80 0.058
105
P MDL005 Medulloblastoma 76 0.058
106
GST019 Gastrointestinal Stromal Tumor 74 0.058
107
P KDN018 Kidney Disease 69 0.058
108
BSL036 Basal Cell Nevus Syndrome 67 0.058
109
BRS051 Breast Disease 67 0.058
110
HYP020 Hyperprolactinemia 64 0.058
111
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.058
112
CLT003 Colitis 63 0.058
113
P PLC011 Pilocytic Astrocytoma 63 0.058
114
P CTR002 Cataract 60 0.058
115
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.058
116
INT079 Intrahepatic Cholangiocarcinoma 60 0.058
117
TRG002 Trigeminal Neuralgia 60 0.058
118
c PRM005 Primary Hyperparathyroidism 59 0.058
119
P HYP069 Hyperparathyroidism 58 0.058
120
MCR088 Microscopic Polyangiitis 58 0.058
121
PPL022 Papilloma 58 0.058
122
NRN004 Neuroendocrine Tumor 58 0.058
123
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.058
124
ANG020 Angiosarcoma 57 0.058
125
P LRY019 Laryngitis 57 0.058
126
RTN209 Retinoschisis 1, X-Linked, Juvenile 56 0.058
127
MCK005 Mckusick-Kaufman Syndrome 55 0.058
128
P MGL013 Megalencephaly 54 0.058
129
CLF001 Cleft Lip 54 0.058
130
BRT002 Birt-Hogg-Dube Syndrome 54 0.058
131
P TRT010 Teratoma 53 0.058
132
GRW007 Growth Hormone Deficiency 52 0.058
133
CHL004 Cholelithiasis 51 0.058
134
GNG002 Ganglioneuroma 50 0.058
135
ANG018 Angiomyolipoma 50 0.058
136
SBP001 Subependymal Giant Cell Astrocytoma 50 0.058
137
ANS023 Anus, Imperforate 50 0.058
138
PPL021 Papilledema 50 0.058
139
GNG005 Gangliocytoma 50 0.058
140
P CRV039 Cervicitis 49 0.058
141
c WLM018 Wilms Tumor 5 49 0.058
142
CYS039 Cystic Kidney Disease 49 0.058
143
FBR009 Fibrous Dysplasia 49 0.058
144
RNL078 Renal Dysplasia 49 0.058
145
CRB045 Cerebellar Hypoplasia 48 0.058
146
RFR010 Refractory Anemia 48 0.058
147
HMM003 Hemimegalencephaly 47 0.058
148
c JVN009 Juvenile Pilocytic Astrocytoma 47 0.058
149
P AML002 Amelogenesis Imperfecta 46 0.058
150
END072 Endotheliitis 46 0.058
151
ARC002 Arachnoiditis 45 0.058
152
P HYP263 Hypersomnia 45 0.058
153
JVN033 Juvenile Nasopharyngeal Angiofibroma 44 0.058
154
c ORF034 Orofaciodigital Syndrome Vi 43 0.058
155
HMN016 Hemangioendothelioma 43 0.058
156
DRM013 Dermoid Cyst 43 0.058
157
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 0.058
158
MYF001 Myofibroma 42 0.058
159
c SZR022 Seizures, Benign Familial Neonatal, 1 39 0.058
160
ARC007 Arachnoid Cysts 39 0.058
161
ANG016 Angiokeratoma 38 0.058
162
c CNG004 Congenital Epulis 37 0.058
163
INV006 Inverted Papilloma 36 0.058
164
HYP022 Hypohidrosis 36 0.058
165
EST004 Estrogen Excess 36 0.058
166
P EPL003 Epulis 34 0.058
167
UND001 Undifferentiated Embryonal Sarcoma of the Liver 33 0.058
168
BCK005 Becker Nevus Syndrome 28 0.058
169
c PLY149 Polydactyly, Preaxial Iv 27 0.058
170
INT049 Intrahepatic Bile Duct Adenoma 25 0.058
171
PSD079 Pseudoangiomatous Stromal Hyperplasia 19 0.058
172
P LNG032 Lung Cancer 99 0.048
173
NRL016 Neural Tube Defects 79 0.048
174
P LVR013 Liver Disease 76 0.048
175
ALP046 Alport Syndrome, X-Linked 74 0.048
176
P MYS003 Myasthenia Gravis 73 0.048
177
MLN008 Melanoma 72 0.048
178
SVR004 Severe Combined Immunodeficiency 71 0.048
179
P LYM118 Lymphoma 71 0.048
180
P BCL006 B-Cell Lymphomas 70 0.048
181
P ATS364 Autism 70 0.048
182
P OST001 Osteopetrosis 70 0.048
183
P TRN020 Turner Syndrome 69 0.048
184
P ALG028 Alagille Syndrome 1 68 0.048
185
P HLP001 Holoprosencephaly 67 0.048
186
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.048
187
P CNJ013 Conjunctivitis 67 0.048
188
PRT036 Peritonitis 67 0.048
189
c TBR026 Tuberous Sclerosis 2 65 0.048
190
PRT010 Parathyroid Carcinoma 64 0.048
191
FBR011 Fibrodysplasia Ossificans Progressiva 64 0.048
192
DFC004 Deficiency Anemia 62 0.048
193
CHR072 Chordoma 61 0.048
194
P RHB003 Rhabdomyosarcoma 61 0.048
195
ANR040 Aneurysm 61 0.048
196
P GLM045 Glioma 61 0.048
197
P HST010 Histiocytosis 60 0.048
198
JVN014 Juvenile Polyposis Syndrome 60 0.048
199
MRK001 Merkel Cell Carcinoma 59 0.048
200
P LMY004 Leiomyosarcoma 59 0.048
201
P OLG002 Oligodendroglioma 59 0.048
202
LMY002 Leiomyoma 58 0.048
203
AND002 Androgen Insensitivity Syndrome 57 0.048
204
PNM008 Pneumothorax 57 0.048
205
P SCL018 Scoliosis 56 0.048
206
MRG003 Marginal Zone B-Cell Lymphoma 56 0.048
207
EPD002 Epidermolytic Hyperkeratosis 56 0.048
208
IRN001 Iron Deficiency Anemia 55 0.048
209
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55 0.048
210
SPH001 Sapho Syndrome 54 0.048
211
ISL001 Islet Cell Tumor 54 0.048
212
LYM022 Lymphangioma 53 0.048
213
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.048
214
P DDN001 Duodenal Ulcer 53 0.048
215
P OBS001 Obstructive Jaundice 53 0.048
216
P PLY023 Polycystic Liver Disease 53 0.048
217
CLN015 Colon Adenocarcinoma 53 0.048
218
ADN001 Adenosine Deaminase Deficiency 52 0.048
219
P HMN036 Hemangiopericytoma, Malignant 52 0.048
220
MYL003 Myeloid Sarcoma 51 0.048
221
GYR004 Gyrate Atrophy of Choroid and Retina 51 0.048
222
HYD012 Hydrops Fetalis 50 0.048
223
PLN006 Poland Syndrome 50 0.048
224
c LRG001 Large Cell Carcinoma 50 0.048
225
HYP063 Hypersplenism 49 0.048
226
SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 49 0.048
227
INF058 Inflammatory Myofibroblastic Tumor 49 0.048
228
c JVN003 Juvenile Xanthogranuloma 48 0.048
229
P HYP087 Hypotrichosis 48 0.048
230
c LBR014 Leber Congenital Amaurosis 4 48 0.048
231
P SDR002 Siderosis 48 0.048
232
FBR019 Fibromatosis 47 0.048
233
PLY012 Polyhydramnios 47 0.048
234
GYN001 Gynecomastia 47 0.048
235
CMP034 Complete Androgen Insensitivity Syndrome 47 0.048
236
P ART084 Arteriovenous Fistula 46 0.048
237
ANR009 Aneurysmal Bone Cysts 46 0.048
238
SHR098 Short-Rib Thoracic Dysplasia 12 46 0.048
239
EPD070 Epidermoid Cysts 46 0.048
240
BRN003 Branchiooculofacial Syndrome 46 0.048
241
P OSS001 Ossifying Fibroma 45 0.048
242
ASP008 Aspiration Pneumonitis 45 0.048
243
SYR002 Syringocystadenoma Papilliferum 45 0.048
244
CRN055 Carney Triad 45 0.048
245
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.048
246
CYS009 Cystadenoma 44 0.048
247
STT007 Steatocystoma Multiplex 44 0.048
248
HMH004 Hemihyperplasia, Isolated 43 0.048
249
GLM008 Glomus Tumor 43 0.048
250
BZX001 Bazex Syndrome 43 0.048
251
LBL001 Lobular Neoplasia 42 0.048
252
CTS003 Coats Disease 42 0.048
253
MYX007 Myxosarcoma 41 0.048
254
KDN015 Kidney Angiomyolipoma 41 0.048
255
P PSD086 Pseudoarthrosis 41 0.048
256
P HMF004 Hemifacial Spasm 41 0.048
257
SCL017 Sclerosing Hemangioma 41 0.048
258
MYC033 Myoclonus 40 0.048
259
GST071 Gastrointestinal Carcinoma 40 0.048
260
SPR066 Superficial Siderosis 40 0.048
261
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.048
262
PLX002 Plexiform Neurofibroma 40 0.048
263
WBR001 Weber Syndrome 40 0.048
264
ADN064 Adenohypophysitis 39 0.048
265
MCR019 Microglandular Adenosis 39 0.048
266
BLR027 Blue Rubber Bleb Nevus 39 0.048
267
c MCR241 Microphthalmia, Syndromic 3 39 0.048
268
SMT002 Smooth Muscle Tumor 39 0.048
269
SPN006 Spindle Cell Lipoma 39 0.048
270
PNC053 Pancreatic Islet Cell Tumors 39 0.048
271
CLC011 Cloacal Exstrophy 38 0.048
272
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.048
273
PSD008 Pseudopapilledema 37 0.048
274
P CYS007 Cystic Nephroma 37 0.048
275
TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37 0.048
276
PLM018 Pulmonary Sclerosing Hemangioma 37 0.048
277
OBS004 Obstructive Hydrocephalus 37 0.048
278
RNL025 Renal Hypoplasia 37 0.048
279
DYS048 Dysplasia Epiphysealis Hemimelica 36 0.048
280
ANG037 Angiomatosis 36 0.048
281
NVS015 Nevus Comedonicus 36 0.048
282
ANK008 Ankyloglossia 36 0.048
283
ANG004 Angioid Streaks 35 0.048
284
LYM095 Lymphangiomatosis 35 0.048
285
FTD001 Foot Drop 35 0.048
286
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 34 0.048
287
SPN331 Spondyloocular Syndrome 34 0.048
288
HPT006 Hepatic Angiomyolipoma 34 0.048
289
DDN009 Duodenal Obstruction 34 0.048
290
GST039 Gastroduodenitis 33 0.048
291
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33 0.048
292
MHR002 Mohr Syndrome 33 0.048
293
P CLD003 Cold-Induced Sweating Syndrome 32 0.048
294
DST008 Diastematomyelia 32 0.048
295
ALP072 Alpha-Fetoprotein Deficiency 32 0.048
296
FCL003 Facial Hemiatrophy 31 0.048
297
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.048
298
SPN012 Spindle Cell Hemangioma 30 0.048
299
P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 30 0.048
300
EPT011 Epithelioid Leiomyosarcoma 30 0.048
301
ENP001 Enophthalmos 29 0.048
302
CBB002 Cobb Syndrome 29 0.048
303
DPH006 Diaphragmatic Eventration 29 0.048
304
LVR014 Liver Sarcoma 29 0.048
305
BRN055 Bronchogenic Cyst 28 0.048
306
TBR003 Tuberculous Epididymitis 27 0.048
307
MLN009 Melanotic Neurilemmoma 27 0.048
308
CRD231 Cardiomyopathy, Infantile Histiocytoid 27 0.048
309
GGN004 Gigantomastia 26 0.048
310
c PRT063 Proteus-Like Syndrome 26 0.048
311
SPR032 Superficial Siderosis of the Central Nervous System 25 0.048
312
GLF001 Gliofibroma 25 0.048
313
INF021 Infant Gynecomastia 25 0.048
314
c ORF036 Orofaciodigital Syndrome Xiv 24 0.048
315
c ORF043 Orofaciodigital Syndrome Ix 24 0.048
316
c MNS008 Monosomy 21 23 0.048
317
BLD163 Blood Group, Dombrock System 23 0.048
318
BRN053 Bronchial Adenomas/carcinoids Childhood 22 0.048
319
P CTS012 Cutis Verticis Gyrata 22 0.048
320
c PRC047 Precocious Puberty, Central, 1 22 0.048
321
STR029 Sternal Cleft 21 0.048
322
c TRC095 Trichoepithelioma, Multiple Familial, 1 21 0.048
323
MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 18 0.048
324
EPG004 Epignathus 18 0.048
325
c CWD005 Cowden Syndrome 4 18 0.048
326
GLT037 Gluteal Muscles, Absence of 15 0.048
327
c CNG120 Congenital Pseudoarthrosis 15 0.048
328
CNG238 Congenital Panfollicular Nevus 13 0.048
329
CNG252 Congenital Non-Communicating Hydrocephalus 13 0.048
330
BLD035 Bile Duct Cystadenoma 13 0.048
331
CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 12 0.048
332
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 10 0.048
333
MCR034 Macrodactyly of the Foot 9 0.048
334
LPH001 Lip, Hamartomatous 7 0.048
335
P PNC035 Pancreatic Cancer 89 0.034
336
EWN003 Ewing Sarcoma 72 0.034
337
c HMC039 Hemochromatosis, Type 1 71 0.034
338
c MNN043 Meningioma, Familial 69 0.034
339
c SML038 Small Cell Cancer of the Lung 67 0.034
340
P KDN017 Kidney Cancer 66 0.034
341
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.034
342
CMB081 Combined Immunodeficiency, X-Linked 64 0.034
343
BRR014 Barrett Esophagus 64 0.034
344
WLL001 Williams-Beuren Syndrome 63 0.034
345
PNC033 Pancreas Adenocarcinoma 63 0.034
346
c NRF024 Neurofibromatosis, Type I 63 0.034
347
c FML346 Familial Adenomatous Polyposis 1 63 0.034
348
P HYP086 Hypothyroidism 62 0.034
349
LMY014 Leiomyoma, Uterine 61 0.034
350
CHR103 Charge Syndrome 59 0.034
351
HMF006 Hemifacial Microsomia 58 0.034
352
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.034
353
HYP730 Hypogonadotropic Hypogonadism 56 0.034
354
RNL065 Renal Cell Carcinoma, Papillary, 1 56 0.034
355
FCL081 Focal Cortical Dysplasia, Type Ii 55 0.034
356
P TRC086 Trichohepatoenteric Syndrome 1 54 0.034
357
HYP080 Hypogonadism 54 0.034
358
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 53 0.034
359
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.034
360
c ORF040 Orofaciodigital Syndrome Viii 53 0.034
361
PST062 Pustulosis Palmaris Et Plantaris 52 0.034
362
HPT082 Hepatic Adenomas, Familial 52 0.034
363
CLB010 Coloboma of Macula 52 0.034
364
MCL006 Macular Retinal Edema 51 0.034
365
HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 51 0.034
366
P LPM005 Lipomatosis 50 0.034
367
TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50 0.034
368
c DWL002 Dowling-Degos Disease 1 50 0.034
369
ANP006 Anaplastic Ependymoma 48 0.034
370
MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 48 0.034
371
ART031 Aortic Coarctation 48 0.034
372
c ADL096 Adult Hepatocellular Carcinoma 47 0.034
373
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46 0.034
374
IRN002 Iron Metabolism Disease 45 0.034
375
SPR008 Supratentorial Primitive Neuroectodermal Tumor 44 0.034
376
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 44 0.034
377
BLD063 Bile Duct Cysts 44 0.034
378
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 42 0.034
379
c CRN278 Craniosynostosis 1 41 0.034
380
SBP002 Subependymal Glioma 41 0.034
381
ADR038 Adermatoglyphia 40 0.034
382
CRP032 Corpus Callosum, Agenesis of 40 0.034
383
DYS164 Dyskeratosis Congenita, X-Linked 40 0.034
384
HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40 0.034
385
CRN285 Corneal Dystrophy, Fleck 40 0.034
386
SPN021 Spinal Meningioma 39 0.034
387
HYP064 Hypogonadotropism 38 0.034
388
MLN073 Melanosis, Neurocutaneous 38 0.034
389
MNN042 Meningioma, Radiation-Induced 38 0.034
390
P LSS024 Lissencephaly with Cerebellar Hypoplasia 37 0.034
391
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.034
392
c HYP507 Hypotrichosis 1 37 0.034
393
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36 0.034
394
P ECT002 Ectomesenchymoma 35 0.034
395
c BNG030 Benign Ependymoma 34 0.034
396
c BSL011 Basal Cell Carcinoma, Multiple 34 0.034
397
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.034
398
NRF016 Neurofibromatosis, Familial Spinal 33 0.034
399
MLT003 Multilocular Clear Cell Renal Cell Carcinoma 32 0.034
400
GND003 Gonadal Disease 32 0.034
401
CLL036 Culler-Jones Syndrome 32 0.034
402
MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 32 0.034
403
c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 31 0.034
404
c KDN016 Kidney Benign Neoplasm 31 0.034
405
HMF010 Hemifacial Microsomia with Radial Defects 31 0.034
406
IDP034 Idiopathic Central Precocious Puberty 30 0.034
407
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 29 0.034
408
P RNG031 Ring Chromosome Y Syndrome 29 0.034
409
c MYS011 Myasthenia Gravis Congenital 28 0.034
410
VSL002 Visual Epilepsy 27 0.034
411
c CWD007 Cowden Syndrome 3 26 0.034
412
c HRD020 Hereditary Renal Cell Carcinoma 25 0.034
413
SKN002 Skin Lipoma 24 0.034
414
c CWD004 Cowden Syndrome 5 23 0.034
415
c CWD008 Cowden Syndrome 6 23 0.034
416
c RPR001 Reproductive Organ Benign Neoplasm 23 0.034
417
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 22 0.034
418
SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 21 0.034
419
CRV037 Cervical Mucinous Adenocarcinoma 21 0.034
420
PLM028 Pulmonary Coin Lesion 21 0.034
421
c ORF046 Orofaciodigital Syndrome Xvi 21 0.034
422
c CWD009 Cowden Syndrome 7 20 0.034
423
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20 0.034
424
TCH005 Tièche-Jadassohn Nevus 19 0.034
425
UTR031 Uterine Benign Neoplasm 19 0.034
426
OMP007 Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex 19 0.034
427
c CWD003 Cowden Syndrome 2 18 0.034
428
c ARC017 Auriculocondylar Syndrome 3 17 0.034
429
CRV014 Cervical Adenoma Malignum 17 0.034
430
AND005 Androgen Insensitivity Syndrome, Mild 16 0.034
431
CNG284 Congenital Pseudoarthrosis of the Tibia 14 0.034
432
SPR064 Supernumerary Breasts 13 0.034
433
MLT051 Multiple Fibrofolliculoma Familial 6 0.034
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