The MalaCard for "hamartoma" has been retired.
Searching MalaCards for entries containing "hamartoma"

467 hits were found for 'hamartoma'

# ++ Fam MCID Name MIFTS Score
1
P HYP231 Hypothalamic Hamartomas 42 4.319
2
PTN006 Pten Hamartoma Tumor Syndrome 30 4.319
3
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 20 3.799
4
c CWD001 Cowden Disease 63 3.590
5
GNT022 Giant Mammary Hamartoma 4 3.429
6
HPT028 Hepatic Cystic Hamartoma 4 3.390
7
GNR022 Generalized Basaloid Follicular Hamartoma Syndrome 10 3.079
8
ANG033 Angiomyomatous Hamartoma 7 3.062
9
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 22 2.982
10
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.969
11
BSL013 Basaloid Follicular Hamartoma 14 2.805
12
CNG248 Congenital Smooth Muscle Hamartoma 11 2.675
13
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 11 2.652
14
ANG032 Angiomatous Lymphoid Hamartoma 7 2.579
15
P CWD006 Cowden Syndrome 1 46 2.479
16
LNR002 Linear Hamartoma Syndrome 2 2.424
17
GRH002 Graham Boyle Troxell Syndrome 8 2.386
18
HYP277 Hypothalamic Hamartomas, Somatic 5 2.386
19
c HYP504 Hypothalamic Hamartomas with Gelastic Seizures 3 2.386
20
FLL043 Follicular Hamartoma - Alopecia - Cystic Fibrosis 2 2.386
21
PTZ001 Peutz-Jeghers Syndrome 73 1.795
22
CPL006 Capillary Hemangioma 49 1.753
23
LNR012 Linear Verrucous Nevus Syndrome 12 1.735
24
EPD037 Epidermal Nevus 49 1.687
25
c CWD008 Cowden Syndrome 6 10 1.687
26
c CWD003 Cowden Syndrome 2 8 1.687
27
c CWD004 Cowden Syndrome 5 8 1.687
28
c CWD005 Cowden Syndrome 4 8 1.687
29
c CWD007 Cowden Syndrome 3 8 1.687
30
ORS001 Orstavik Lindemann Solberg Syndrome 3 1.687
31
P PRC019 Precocious Puberty 61 0.210
32
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.176
33
ANK002 Ankylosing Spondylitis 75 0.164
34
LMB055 Limb Transversal Defect - Cardiac Anomaly 19 0.164
35
WDM003 Wiedemann Opitz Syndrome 9 0.160
36
NSY001 N Syndrome 57 0.157
37
GRB002 Gerbode Defect 18 0.157
38
PLL001 Pallister-Hall Syndrome 64 0.143
39
CMB019 Combined Oxidative Phosphorylation Deficiency 8 23 0.143
40
c CRN222 Corneal Endothelial Dystrophy 1, Autosomal Dominant 13 0.143
41
LTR008 Lateral Body Wall Defect 9 0.143
42
c CNT075 Central Precocious Puberty 47 0.135
43
P TBR001 Tuberous Sclerosis 81 0.131
44
ACN002 Acanthosis Nigricans 70 0.131
45
HMN010 Hemangioma 62 0.127
46
SRC014 Sarcoma 54 0.118
47
P NRF002 Neurofibromatosis 86 0.113
48
ATX002 Ataxia Telangiectasia 81 0.113
49
HYP077 Hypertrichosis 43 0.113
50
CMB043 Combined Oxidative Phosphorylation Deficiency 9 15 0.113
51
DPH011 Diaphragmatic Hernia Upper Limb Defects 9 0.113
52
RDC004 Reductional Transverse Limb Defects 9 0.113
53
BSL007 Basal Cell Carcinoma 62 0.109
54
ARC007 Arachnoid Cysts 52 0.109
55
IMP002 Imperforate Anus 47 0.109
56
EMB007 Embryonal Sarcoma 43 0.109
57
ANG019 Angiomyoma 19 0.109
58
ADN018 Adenoma 67 0.104
59
ART031 Aortic Coarctation 56 0.104
60
NRF007 Neurofibroma 51 0.104
61
PRL042 Proliferating Trichilemmal Cyst 40 0.104
62
THR013 Thoracic Outlet Syndrome 53 0.098
63
LVR014 Liver Sarcoma 29 0.098
64
CMB013 Combined Oxidative Phosphorylation Deficiency 2 21 0.098
65
HYP178 Hyperthermia Induced Defects 10 0.098
66
c GGN002 Gigantism 51 0.093
67
CRB009 Cerebritis 46 0.093
68
c ATX010 Ataxia Neuropathy Spectrum 33 0.093
69
c PST050 Postaxial Polydactyly Type a 18 0.093
70
P BCK002 Beckwith-Wiedemann Syndrome 62 0.087
71
LMY002 Leiomyoma 61 0.087
72
P MYK002 Myokymia 40 0.087
73
P HRT021 Heart Block, Progressive, Type Ia 35 0.087
74
AXL004 Axial Mesodermal Dysplasia Spectrum 24 0.087
75
WDM004 Wiedemann-Steiner Syndrome 20 0.087
76
BRN050 Branchial Arch Defects 13 0.087
77
FLL021 Follicular Basal Cell Carcinoma 10 0.087
78
P PLY006 Polydactyly 55 0.080
79
c MSN006 Mesenchymoma 36 0.080
80
ANK003 Ankle Defects Short Stature 9 0.080
81
P ANG001 Angelman Syndrome 67 0.073
82
TKY001 Takayasu's Arteritis 65 0.073
83
c LCL006 Localized Scleroderma 64 0.073
84
ART019 Aortic Valve Stenosis 64 0.073
85
WST001 West Syndrome 64 0.073
86
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 0.073
87
HMH002 Hemihypertrophy 57 0.073
88
P PRT008 Proteus Syndrome 55 0.073
89
P EPL002 Epilepsy Syndrome 52 0.073
90
PLY012 Polyhydramnios 49 0.073
91
BLD033 Bile Duct Adenoma 40 0.073
92
P MNN007 Meningocele 38 0.073
93
MYF001 Myofibroma 37 0.073
94
ENP001 Enophthalmos 33 0.073
95
HNM001 Hinman's Syndrome 28 0.073
96
CHR469 Choristoma 25 0.073
97
PTZ002 Peutz–jeghers Syndrome 17 0.073
98
TRC052 Trichofolliculoma 15 0.073
99
BRN024 Bronchitis 71 0.066
100
P LPR002 Leopard Syndrome 66 0.066
101
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.066
102
CHL065 Cholangiocarcinoma 61 0.066
103
P CLF002 Cleft Palate 60 0.066
104
TBR022 Tuberous Sclerosis Complex 53 0.066
105
LPM004 Lipoma 51 0.066
106
RNL014 Renal Cell Carcinoma 51 0.066
107
c WLM002 Wilms Tumor 50 0.066
108
RFR010 Refractory Anemia 50 0.066
109
CHN010 Chondroma 50 0.066
110
NPH011 Nephroblastoma 49 0.066
111
c RBN009 Robinow Syndrome, Autosomal Recessive 29 0.066
112
LRG012 Large Congenital Melanocytic Nevus 29 0.066
113
NNS006 Non-Suppurative Otitis Media 24 0.066
114
P PLY034 Polydactyly Preaxial Type 4 22 0.066
115
c WLM005 Wilms Tumor 2 20 0.066
116
PRT015 Partial Third-Nerve Palsy 19 0.066
117
ACR045 Acro-Pectoro-Renal Field Defect 13 0.066
118
TRG010 Trigonomacrocephaly Tibial Defect Polydactyly 9 0.066
119
GL3001 Gli3-Related Disorders 3 0.066
120
AND002 Androgen Insensitivity Syndrome 75 0.057
121
KLP002 Klippel-Trenaunay Syndrome 60 0.057
122
P ADN016 Adenocarcinoma 60 0.057
123
GNG004 Ganglioglioma 54 0.057
124
c MCR013 Microphthalmia 53 0.057
125
P CRP001 Carpal Tunnel Syndrome 53 0.057
126
c SYN001 Syndactyly 52 0.057
127
ART001 Arterial Tortuosity Syndrome 52 0.057
128
BLS003 Blastoma 49 0.057
129
BRS051 Breast Disease 48 0.057
130
c CTR002 Cataract 48 0.057
131
P HTR003 Heterotaxy 46 0.057
132
P ATS008 Autosomal Dominant Disease 45 0.057
133
P PLR004 Pleuropulmonary Blastoma 43 0.057
134
P CRV039 Cervicitis 41 0.057
135
MNN014 Mononeuritis 40 0.057
136
AND003 Andersen-Tawil Syndrome 39 0.057
137
PRT093 Proteus Syndrome, Somatic 39 0.057
138
CYS024 Cystinosis, Ocular Nonnephropathic 32 0.057
139
c ERL004 Early Yaws 29 0.057
140
ZP7001 Zap70-Related Severe Combined Immunodeficiency 24 0.057
141
BCK017 Becker's Nevus 23 0.057
142
CRD032 Cardioskeletal Syndrome Kuwaiti Type 20 0.057
143
FML233 Familial Papillary Thyroid Carcinoma with Renal Papillary Neoplasia 20 0.057
144
CMB018 Combined Oxidative Phosphorylation Deficiency 7 20 0.057
145
c PRC046 Precocious Puberty, Central, 2 19 0.057
146
HRD009 Hereditary Wilms' Tumor 19 0.057
147
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 18 0.057
148
ULN013 Ulnar/fibula Ray Defect - Brachydactyly 17 0.057
149
PNL023 Penile Agenesis 17 0.057
150
c TTL001 Total Internal Ophthalmoplegia 17 0.057
151
TRM014 Terminal Transverse Defects of Arm 14 0.057
152
c CNG383 Congenital Heart Defects, Nonsyndromic, 2 13 0.057
153
CYS001 Cystic Fibrosis 91 0.046
154
P BRS047 Breast Cancer 85 0.046
155
P RTN008 Retinitis Pigmentosa 76 0.046
156
P LFR001 Li-Fraumeni Syndrome 75 0.046
157
ACR007 Acromegaly 75 0.046
158
P GST019 Gastrointestinal Stromal Tumor 75 0.046
159
ULC004 Ulcerative Colitis 71 0.046
160
RNL002 Renal Agenesis 68 0.046
161
P MDL005 Medulloblastoma 66 0.046
162
P PRM005 Primary Hyperparathyroidism 66 0.046
163
DFC004 Deficiency Anemia 65 0.046
164
c THY032 Thyroiditis 61 0.046
165
P HYD006 Hydrocephalus 60 0.046
166
PPL022 Papilloma 60 0.046
167
ANG020 Angiosarcoma 58 0.046
168
c HYP069 Hyperparathyroidism 57 0.046
169
c AXN002 Axenfeld-Rieger Syndrome 57 0.046
170
FCL009 Focal Dermal Hypoplasia 56 0.046
171
MYC002 Mycobacterium Avium Complex Disease 56 0.046
172
HPT022 Hepatoblastoma 56 0.046
173
PTN001 Patent Foramen Ovale 56 0.046
174
NRN001 Neuroendocrine Carcinoma 55 0.046
175
KDS001 Kid Syndrome 55 0.046
176
P ESN007 Eosinophilia 54 0.046
177
P SNS014 Sinusitis 54 0.046
178
RTN023 Retinitis 53 0.046
179
ACR008 Acrocallosal Syndrome 53 0.046
180
c SCL016 Scleroderma 53 0.046
181
c KDN018 Kidney Disease 52 0.046
182
P CNG015 Congenital Diaphragmatic Hernia 52 0.046
183
GNG002 Ganglioneuroma 51 0.046
184
DRM004 Dermatofibrosarcoma 51 0.046
185
FBR009 Fibrous Dysplasia 51 0.046
186
c MNT147 Mental Retardation 51 0.046
187
HMN016 Hemangioendothelioma 51 0.046
188
CYS016 Cystic Kidney 50 0.046
189
HMM003 Hemimegalencephaly 50 0.046
190
P PND001 Pain Disorder 49 0.046
191
LYM022 Lymphangioma 49 0.046
192
P THR090 Thrombocythemia 1 48 0.046
193
PPL005 Papillary Renal Cell Carcinoma 48 0.046
194
NRM004 Neuroma 48 0.046
195
RTN025 Retinoschisis 47 0.046
196
RNL078 Renal Dysplasia 47 0.046
197
P AML002 Amelogenesis Imperfecta 47 0.046
198
CHY002 Chylomicron Retention Disease 46 0.046
199
LNN001 Lennox-Gastaut Syndrome 46 0.046
200
c ACR001 Aicardi-Goutieres Syndrome 46 0.046
201
INV006 Inverted Papilloma 45 0.046
202
PPL021 Papilledema 44 0.046
203
GNG005 Gangliocytoma 44 0.046
204
MLK003 Melkersson-Rosenthal Syndrome 43 0.046
205
PRX034 Peroxisome Disorders 43 0.046
206
ANG016 Angiokeratoma 42 0.046
207
c MSB002 Mesoblastic Nephroma 42 0.046
208
CHR101 Char Syndrome 42 0.046
209
RVL002 Ruvalcaba Syndrome 42 0.046
210
CRN055 Carney Triad 42 0.046
211
ATX019 Ataxia with Vitamin E Deficiency 40 0.046
212
HYP022 Hypohidrosis 40 0.046
213
P TST015 Testicular Disease 38 0.046
214
c CNG029 Congenital Mesoblastic Nephroma 38 0.046
215
SKN005 Skin Atrophy 36 0.046
216
GST064 Gastric Outlet Obstruction 35 0.046
217
P EPL003 Epulis 35 0.046
218
c CNG004 Congenital Epulis 35 0.046
219
INT079 Intrahepatic Cholangiocarcinoma 34 0.046
220
ABD010 Abdominal Wall Defect 33 0.046
221
DYS036 Dysequilibrium Syndrome 32 0.046
222
P SLP004 Salpingo-Oophoritis 30 0.046
223
DFC001 Defective Apolipoprotein B-100 30 0.046
224
PTL001 Patulous Eustachian Tube 28 0.046
225
ODN006 Odontoma 26 0.046
226
c HRM004 Hermansky Pudlak Syndrome 2 24 0.046
227
NVS002 Nevo Syndrome 23 0.046
228
XLN018 X-Linked Creatine Deficiency 22 0.046
229
DDN009 Duodenal Obstruction 22 0.046
230
CHN001 Chondroid Lipoma 22 0.046
231
CMB025 Combined Oxidative Phosphorylation Deficiency 10 22 0.046
232
CRT057 Critical Congenital Heart Disease 20 0.046
233
CHR176 Chromophil Renal Cell Carcinoma 20 0.046
234
c ORF009 Orofaciodigital Syndrome 4 19 0.046
235
UPP006 Upper Limb Defect - Eye and Ear Abnormalities 17 0.046
236
c PRC047 Precocious Puberty, Central, 1 16 0.046
237
CLF036 Cleft Tongue 12 0.046
238
MCH008 Michelin Tire Baby Syndrome 12 0.046
239
NNS029 Non-Secreting Paraganglioma 11 0.046
240
PRM033 Paraomphalocele 11 0.046
241
P AMY001 Amyotrophic Lateral Sclerosis 87 0.033
242
P MLT020 Multiple Sclerosis 75 0.033
243
THY028 Thyroid Cancer 73 0.033
244
ATS001 Autistic Disorder 71 0.033
245
P MYS003 Myasthenia Gravis 71 0.033
246
P TRN020 Turner Syndrome 71 0.033
247
NRL016 Neural Tube Defects 69 0.033
248
GLN003 Glanzmann's Thrombasthenia 68 0.033
249
LYM007 Lymphangioleiomyomatosis 67 0.033
250
PRT036 Peritonitis 67 0.033
251
P CNG026 Congenital Heart Defect 65 0.033
252
c LPS004 Lupus Erythematosus 65 0.033
253
BRN028 Brain Cancer 65 0.033
254
c HPT021 Hepatitis 65 0.033
255
SKN016 Skin Disease 64 0.033
256
HYP020 Hyperprolactinemia 64 0.033
257
STT001 Status Epilepticus 64 0.033
258
CNG368 Congenital Adrenal Hyperplasia 64 0.033
259
c PRM002 Primary Hyperoxaluria 63 0.033
260
P SYS005 Systemic Scleroderma 63 0.033
261
P DDN001 Duodenal Ulcer 63 0.033
262
PSY004 Psychotic Disorder 62 0.033
263
EPD002 Epidermolytic Hyperkeratosis 62 0.033
264
P HLP001 Holoprosencephaly 61 0.033
265
LNG032 Lung Cancer 61 0.033
266
PTN002 Patent Ductus Arteriosus 61 0.033
267
P STR022 Stargardt Disease 61 0.033
268
HYD012 Hydrops Fetalis 61 0.033
269
P HST010 Histiocytosis 61 0.033
270
PPL002 Papillary Carcinoma 60 0.033
271
P JVN014 Juvenile Polyposis Syndrome 60 0.033
272
DRM014 Dermatofibrosarcoma Protuberans 59 0.033
273
ALP008 Alopecia 59 0.033
274
ANR002 Aniridia 59 0.033
275
DSS009 Disseminated Intravascular Coagulation 59 0.033
276
P OST001 Osteopetrosis 59 0.033
277
IRN001 Iron Deficiency Anemia 58 0.033
278
MCR088 Microscopic Polyangiitis 58 0.033
279
c PNC044 Pancreatitis 58 0.033
280
GLD001 Goldenhar Syndrome 57 0.033
281
INT051 Intussusception 57 0.033
282
PTT006 Pituitary Adenoma 56 0.033
283
KDN017 Kidney Cancer 56 0.033
284
CLB001 Coloboma 56 0.033
285
P OLG002 Oligodendroglioma 56 0.033
286
P MLN008 Melanoma 56 0.033
287
GYN001 Gynecomastia 56 0.033
288
CHR072 Chordoma 55 0.033
289
CDL003 Caudal Regression Syndrome 55 0.033
290
c HYP060 Hyperinsulinism 55 0.033
291
LRN003 Learning Disability 54 0.033
292
P LMY004 Leiomyosarcoma 53 0.033
293
FLL032 Follicular Thyroid Carcinoma 53 0.033
294
c TRT010 Teratoma 53 0.033
295
P DNT039 Dent's Disease 52 0.033
296
GRW007 Growth Hormone Deficiency 52 0.033
297
ANG018 Angiomyolipoma 52 0.033
298
P CLL015 Collagen Disease 52 0.033
299
HYP063 Hypersplenism 52 0.033
300
MRK001 Merkel Cell Carcinoma 52 0.033
301
MCK005 Mckusick-Kaufman Syndrome 52 0.033
302
CHR008 Choroiditis 51 0.033
303
BRT002 Birt-Hogg-Dube Syndrome 51 0.033
304
ISL001 Islet Cell Tumor 51 0.033
305
ARC002 Arachnoiditis 51 0.033
306
P SPH001 Sapho Syndrome 51 0.033
307
BRN016 Bronchogenic Carcinoma 51 0.033
308
SDR002 Siderosis 50 0.033
309
SMT002 Smooth Muscle Tumor 50 0.033
310
WLL003 Williams Syndrome 50 0.033
311
LRG001 Large Cell Carcinoma 50 0.033
312
OBS001 Obstructive Jaundice 50 0.033
313
CHL004 Cholelithiasis 50 0.033
314
CYS009 Cystadenoma 50 0.033
315
RTN018 Retinal Disease 49 0.033
316
SWT001 Sweat Gland Carcinoma 49 0.033
317
P PTT014 Pitt-Hopkins Syndrome 49 0.033
318
NRL005 Neurilemmoma 49 0.033
319
CYS002 Cystic Lymphangioma 49 0.033
320
MYL003 Myeloid Sarcoma 49 0.033
321
OST028 Osteochondroma 49 0.033
322
OSS001 Ossifying Fibroma 48 0.033
323
c HYD002 Hydronephrosis 48 0.033
324
RHB003 Rhabdomyosarcoma 48 0.033
325
URC002 Urea Cycle Disorder 48 0.033
326
FBR019 Fibromatosis 47 0.033
327
CVR006 Cavernous Hemangioma 47 0.033
328
MYC033 Myoclonus 47 0.033
329
WBR001 Weber Syndrome 47 0.033
330
NRN002 Neuronitis 47 0.033
331
SKN023 Skin Tag 47 0.033
332
GLM008 Glomus Tumor 46 0.033
333
GRG001 Greig Cephalopolysyndactyly Syndrome 46 0.033
334
c INT070 Intestinal Obstruction 46 0.033
335
P JVN003 Juvenile Xanthogranuloma 46 0.033
336
JVN033 Juvenile Nasopharyngeal Angiofibroma 46 0.033
337
SCL017 Sclerosing Hemangioma 46 0.033
338
c CRP010 Corpus Callosum Agenesis 45 0.033
339
c CTN021 Cutaneous Malignant Melanoma 45 0.033
340
PLM018 Pulmonary Sclerosing Hemangioma 44 0.033
341
GRD002 Gardner Syndrome 44 0.033
342
IRN002 Iron Metabolism Disease 44 0.033
343
ANR009 Aneurysmal Bone Cysts 43 0.033
344
HYP265 Hypotonia 43 0.033
345
PLX002 Plexiform Neurofibroma 43 0.033
346
GYR001 Gyrate Atrophy 42 0.033
347
c LNG063 Lung Cancer Susceptibility 42 0.033
348
P EPT012 Epithelioid Sarcoma 42 0.033
349
BLR015 Blue Rubber Bleb Nevus Syndrome 42 0.033
350
P ATR001 Atrioventricular Septal Defect 42 0.033
351
MGL013 Megalencephaly 41 0.033
352
LBL001 Lobular Neoplasia 41 0.033
353
PPL006 Papillon-Lefevre Disease 41 0.033
354
c OPT004 Optic Atrophy 41 0.033
355
c HYP087 Hypotrichosis 41 0.033
356
P STT007 Steatocystoma Multiplex 40 0.033
357
SPN006 Spindle Cell Lipoma 40 0.033
358
SCH016 Schimke Immunoosseous Dysplasia 40 0.033
359
MCR019 Microglandular Adenosis 39 0.033
360
OBS004 Obstructive Hydrocephalus 39 0.033
361
SYR002 Syringocystadenoma Papilliferum 39 0.033
362
CRB045 Cerebellar Hypoplasia 38 0.033
363
P CYS007 Cystic Nephroma 38 0.033
364
HMF004 Hemifacial Spasm 37 0.033
365
ANG037 Angiomatosis 37 0.033
366
CMP034 Complete Androgen Insensitivity Syndrome 37 0.033
367
OPT037 Optic Nerve Hypoplasia 37 0.033
368
HPT006 Hepatic Angiomyolipoma 37 0.033
369
EPT011 Epithelioid Leiomyosarcoma 36 0.033
370
PLN006 Poland Syndrome 36 0.033
371
TTR016 Tetra-Amelia Syndrome 36 0.033
372
EPD046 Epididymitis 35 0.033
373
P ATR010 Atrial Heart Septal Defect 35 0.033
374
BSC004 Buschke Ollendorff Syndrome 35 0.033
375
ASP008 Aspiration Pneumonitis 35 0.033
376
DYS048 Dysplasia Epiphysealis Hemimelica 34 0.033
377
BRN055 Bronchogenic Cyst 33 0.033
378
SPR066 Superficial Siderosis 33 0.033
379
MTR001 Mature Cataract 32 0.033
380
ANG017 Angiolipoma 32 0.033
381
RNL025 Renal Hypoplasia 32 0.033
382
SPN012 Spindle Cell Hemangioma 32 0.033
383
HRD028 Hereditary Folate Malabsorption 32 0.033
384
ADS002 Adie Syndrome 32 0.033
385
ANG004 Angioid Streaks 31 0.033
386
P CLD003 Cold-Induced Sweating Syndrome 31 0.033
387
IMR001 Imerslund-Grasbeck Syndrome 31 0.033
388
FCL003 Facial Hemiatrophy 31 0.033
389
CRB027 Cerebellar Disease 30 0.033
390
FTD001 Foot Drop 30 0.033
391
LYM095 Lymphangiomatosis 30 0.033
392
DRM005 Dermoid Cyst of Ovary 30 0.033
393
CLC011 Cloacal Exstrophy 30 0.033
394
DPH006 Diaphragmatic Eventration 30 0.033
395
ORL010 Oral-Facial-Digital Syndrome Type I 29 0.033
396
P WLM008 Wilms Tumor, Type 1 29 0.033
397
HMG020 Hmg Coa Lyase Deficiency 28 0.033
398
MLT107 Multilocular Cystic Renal Cell Carcinoma 27 0.033
399
DST008 Diastematomyelia 27 0.033
400
GST036 Gastric Leiomyosarcoma 27 0.033
401
EYC002 Eye Carcinoma 26 0.033
402
EST004 Estrogen Excess 24 0.033
403
c JBR016 Joubert Syndrome 10 24 0.033
404
DNC004 Diencephalic Syndrome 24 0.033
405
CBB002 Cobb Syndrome 24 0.033
406
NRC015 Neurocutaneous Melanocytosis 23 0.033
407
BRS061 Breast Sarcoma 23 0.033
408
LVR002 Liver Angiosarcoma 23 0.033
409
PSD008 Pseudopapilledema 23 0.033
410
INT110 Intracranial Cysts 23 0.033
411
GLF001 Gliofibroma 23 0.033
412
NRC006 Neurocutaneous Melanosis 22 0.033
413
STR029 Sternal Cleft 21 0.033
414
BSL011 Basal Cell Carcinoma, Multiple 21 0.033
415
LNR005 Linear Scleroderma 21 0.033
416
PPL029 Papillary Renal Carcinoma 21 0.033
417
LMB013 Limb Reduction Defect 21 0.033
418
ECT002 Ectomesenchymoma 21 0.033
419
PNC049 Pancreatic Adenoma 21 0.033
420
ART030 Aortic Arch Interruption 21 0.033
421
c BNG012 Benign Mesenchymoma 20 0.033
422
P ADL014 Adult Mesoblastic Nephroma 20 0.033
423
BLD032 Bile Duct Adenocarcinoma 20 0.033
424
EPG004 Epignathus 20 0.033
425
P MLT049 Multiple Familial Trichoepithelioma 1 20 0.033
426
NNF003 Non-Familial Renal Cell Carcinoma 19 0.033
427
ACR037 Acromegaloid Facial Appearance Syndrome 19 0.033
428
P GNG015 Gingival Fibromatosis with Hypertrichosis 19 0.033
429
TBR003 Tuberculous Epididymitis 19 0.033
430
RNL018 Renal Pelvis Carcinoma 19 0.033
431
AND005 Androgen Insensitivity Syndrome, Mild 19 0.033
432
OCC007 Occult Spinal Dysraphism 19 0.033
433
P ORF012 Orofaciodigital Syndrome 8 18 0.033
434
P PSD086 Pseudoarthrosis 18 0.033
435
EPD054 Epidermal Nevus, Somatic 18 0.033
436
SCR020 Sacral Defect with Anterior Meningocele 18 0.033
437
c CTS012 Cutis Verticis Gyrata 18 0.033
438
NVS012 Nevus Comedonicus Syndrome 17 0.033
439
MYX007 Myxosarcoma 17 0.033
440
MZB001 Mazabraud Syndrome 17 0.033
441
LNG035 Lung Large Cell Carcinoma 17 0.033
442
VNS002 Venous Hemangioma 17 0.033
443
c BNG076 Benign Exophthalmos Syndrome 17 0.033
444
c MCR163 Microphthalmia with Linear Skin Defects Syndrome 16 0.033
445
ADN025 Adenoameloblastoma 16 0.033
446
PLM028 Pulmonary Coin Lesion 15 0.033
447
c CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 15 0.033
448
c ORF008 Orofaciodigital Syndrome 3 15 0.033
449
RNL005 Renal Wilms' Tumor 15 0.033
450
ANG024 Angiofollicular Lymph Hyperplasia 14 0.033
451
P PLY057 Polydactyly, Postaxial, Types A1 and B 14 0.033
452
INF048 Infantile Histiocytoid Cardiomyopathy 13 0.033
453
BLD035 Bile Duct Cystadenoma 13 0.033
454
THY057 Thyroid Hormonogenesis Defect I 12 0.033
455
PNS014 Penis Agenesis 12 0.033
456
c CNG120 Congenital Pseudoarthrosis 11 0.033
457
HYP307 Hypertrichosis, Congenital Generalized 11 0.033
458
RDC003 Red Cell Phospholipid Defect with Hemolysis 11 0.033
459
MLN009 Melanotic Neurilemmoma 11 0.033
460
INT049 Intrahepatic Bile Duct Adenoma 10 0.033
461
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 10 0.033
462
FBR015 Fibroepithelial Basal Cell Carcinoma 9 0.033
463
OVR074 Overgrowth Radial Ray Defect Arthrogryposis 9 0.033
464
SBC013 Sebaceous Basal Cell Carcinoma 8 0.033
465
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 7 0.033
466
PRC025 Precocious Puberty, Gonadotropin-Dependent 5 0.033
467
PDT039 Pediatric Castleman Disease 5 0.033