Search results for "hamartoma"

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

430 hits were found for 'hamartoma'

# Family MCID Name MIFTS Score
1
HYP231 Hypothalamic Hamartomas 34 4.577
2
P CWD001 Cowden Disease 64 4.413
3
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 41 4.413
4
PTN006 Pten Hamartoma Tumor Syndrome 37 4.138
5
c CWD006 Cowden Syndrome 1 57 3.919
6
HPT028 Hepatic Cystic Hamartoma 10 3.876
7
PRL032 Perlman Syndrome 50 3.863
8
GNT022 Giant Mammary Hamartoma 8 3.057
9
CNG248 Congenital Smooth Muscle Hamartoma 14 2.736
10
CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 17 2.701
11
ANG033 Angiomyomatous Hamartoma 9 2.625
12
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 2.533
13
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.509
14
BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 11 2.496
15
HYP277 Hypothalamic Hamartomas, Somatic 9 2.481
16
GRH002 Graham Boyle Troxell Syndrome 11 2.426
17
BSL013 Basaloid Follicular Hamartoma 13 2.121
18
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 12 2.065
19
ANG032 Angiomatous Lymphoid Hamartoma 14 1.950
20
PTZ001 Peutz-Jeghers Syndrome 71 1.813
21
P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 5 1.799
22
LNR002 Linear Hamartoma Syndrome 5 1.783
23
P CPL006 Capillary Hemangioma 51 1.765
24
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 5 1.765
25
FLL047 Follicular Hamartoma-Alopecia-Cystic Fibrosis Syndrome 3 1.765
26
LNR012 Linear Verrucous Nevus Syndrome 12 1.743
27
ORS001 Orstavik Lindemann Solberg Syndrome 6 1.743
28
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 53 1.715
29
P PRC019 Precocious Puberty 51 0.222
30
P EPL164 Epilepsy 66 0.217
31
RTN023 Retinitis 50 0.217
32
PLL001 Pallister-Hall Syndrome 55 0.144
33
c CNT075 Central Precocious Puberty 49 0.135
34
P TBR001 Tuberous Sclerosis 67 0.131
35
SRC014 Sarcoma 66 0.127
36
P NRF002 Neurofibromatosis 71 0.117
37
P HMN010 Hemangioma 59 0.117
38
ADN018 Adenoma 58 0.117
39
P HPT021 Hepatitis 69 0.112
40
c BSL007 Basal Cell Carcinoma 65 0.112
41
EMB007 Embryonal Sarcoma 46 0.107
42
NRN002 Neuronitis 41 0.096
43
P PLY006 Polydactyly 56 0.090
44
TRC052 Trichofolliculoma 14 0.090
45
P PNC044 Pancreatitis 61 0.083
46
MCS002 Mucositis 55 0.083
47
HYP077 Hypertrichosis 44 0.083
48
P MSN006 Mesenchymoma 33 0.083
49
P RNL014 Renal Cell Carcinoma 82 0.076
50
P PLR004 Pleuropulmonary Blastoma 65 0.076
51
c NRF019 Neurofibromatosis, Type 2 62 0.076
52
PRT093 Proteus Syndrome, Somatic 56 0.076
53
P BCK002 Beckwith-Wiedemann Syndrome 56 0.076
54
HPT022 Hepatoblastoma 55 0.076
55
P THY032 Thyroiditis 54 0.076
56
CHR008 Choroiditis 44 0.076
57
RVL002 Ruvalcaba Syndrome 39 0.076
58
BLS003 Blastoma 36 0.076
59
P BRS047 Breast Cancer 100 0.068
60
P ADN016 Adenocarcinoma 69 0.068
61
c NRF018 Neurofibromatosis, Type 1 67 0.068
62
c TBR024 Tuberous Sclerosis-1 63 0.068
63
GNG013 Gingivitis 61 0.068
64
P RTN025 Retinoschisis 58 0.068
65
NRF007 Neurofibroma 53 0.068
66
IMP002 Imperforate Anus 52 0.068
67
NRM004 Neuroma 48 0.068
68
SKN023 Skin Tag 44 0.068
69
DDN006 Duodenitis 42 0.068
70
NSP002 Nasopharyngitis 40 0.068
71
CRB009 Cerebritis 39 0.068
72
P MNN007 Meningocele 36 0.068
73
ODN006 Odontoma 34 0.068
74
P HYD006 Hydrocephalus 66 0.059
75
P AST007 Astrocytoma 65 0.059
76
ATS001 Autistic Disorder 63 0.059
77
DRM014 Dermatofibrosarcoma Protuberans 61 0.059
78
P SNS014 Sinusitis 60 0.059
79
MCR013 Microphthalmia 60 0.059
80
LPM004 Lipoma 60 0.059
81
LNN001 Lennox-Gastaut Syndrome 57 0.059
82
P INT070 Intestinal Obstruction 57 0.059
83
P FNC043 Fanconi Anemia, Complementation Group E 55 0.059
84
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.059
85
MCK005 Mckusick-Kaufman Syndrome 52 0.059
86
INT051 Intussusception 50 0.059
87
GNG004 Ganglioglioma 50 0.059
88
HYP108 Hyperparathyroidism-Jaw Tumor Syndrome 47 0.059
89
c ORF037 Orofaciodigital Syndrome I 46 0.059
90
CHN010 Chondroma 42 0.059
91
ALR002 Al-Raqad Syndrome 36 0.059
92
GGN002 Gigantism 32 0.059
93
VRR008 Verrucous Hemangioma 11 0.059
94
P RTN008 Retinitis Pigmentosa 80 0.048
95
P MDL005 Medulloblastoma 77 0.048
96
ULC004 Ulcerative Colitis 76 0.048
97
GST019 Gastrointestinal Stromal Tumor 73 0.048
98
P KDN018 Kidney Disease 66 0.048
99
SKN016 Skin Disease 66 0.048
100
P LYM007 Lymphangioleiomyomatosis 66 0.048
101
BSL036 Basal Cell Nevus Syndrome 65 0.048
102
P PRT010 Parathyroid Carcinoma 63 0.048
103
CNG368 Congenital Adrenal Hyperplasia 62 0.048
104
BRS051 Breast Disease 61 0.048
105
CLT003 Colitis 60 0.048
106
HYP020 Hyperprolactinemia 60 0.048
107
P PLC011 Pilocytic Astrocytoma 60 0.048
108
P CTR002 Cataract 58 0.048
109
P HYP069 Hyperparathyroidism 58 0.048
110
TRG002 Trigeminal Neuralgia 57 0.048
111
NRN004 Neuroendocrine Tumor 56 0.048
112
INT079 Intrahepatic Cholangiocarcinoma 56 0.048
113
PPL022 Papilloma 55 0.048
114
PLN006 Poland Syndrome 54 0.048
115
P LRY019 Laryngitis 54 0.048
116
ANG020 Angiosarcoma 53 0.048
117
OPT037 Optic Nerve Hypoplasia 52 0.048
118
MGL013 Megalencephaly 52 0.048
119
P TRT010 Teratoma 52 0.048
120
BRT002 Birt-Hogg-Dube Syndrome 52 0.048
121
CYS039 Cystic Kidney Disease 52 0.048
122
GRW007 Growth Hormone Deficiency 50 0.048
123
CLF001 Cleft Lip 50 0.048
124
CRB045 Cerebellar Hypoplasia 48 0.048
125
P TRC086 Trichohepatoenteric Syndrome 1 48 0.048
126
SBP001 Subependymal Giant Cell Astrocytoma 47 0.048
127
PPL021 Papilledema 47 0.048
128
GNG002 Ganglioneuroma 47 0.048
129
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 46 0.048
130
ANG018 Angiomyolipoma 46 0.048
131
FBR054 Fibroma 46 0.048
132
RNL078 Renal Dysplasia 45 0.048
133
HMM003 Hemimegalencephaly 45 0.048
134
P CRV039 Cervicitis 45 0.048
135
RFR010 Refractory Anemia 45 0.048
136
GNG005 Gangliocytoma 45 0.048
137
FBR009 Fibrous Dysplasia 45 0.048
138
P AML002 Amelogenesis Imperfecta 45 0.048
139
DRM013 Dermoid Cyst 44 0.048
140
c JVN009 Juvenile Pilocytic Astrocytoma 42 0.048
141
END072 Endotheliitis 42 0.048
142
c BSL024 Basal Cell Carcinoma 1 42 0.048
143
INV006 Inverted Papilloma 41 0.048
144
HMH002 Hemihypertrophy 41 0.048
145
ARC002 Arachnoiditis 41 0.048
146
P HYP263 Hypersomnia 40 0.048
147
ANG016 Angiokeratoma 40 0.048
148
JVN033 Juvenile Nasopharyngeal Angiofibroma 39 0.048
149
ARC007 Arachnoid Cysts 39 0.048
150
HMN016 Hemangioendothelioma 39 0.048
151
c ORF034 Orofaciodigital Syndrome Vi 38 0.048
152
P SYN012 Synpolydactyly 38 0.048
153
c CNG029 Congenital Mesoblastic Nephroma 37 0.048
154
MYF001 Myofibroma 37 0.048
155
EST004 Estrogen Excess 37 0.048
156
HYP022 Hypohidrosis 37 0.048
157
MCR019 Microglandular Adenosis 37 0.048
158
UND001 Undifferentiated Embryonal Sarcoma of the Liver 36 0.048
159
c CNG004 Congenital Epulis 33 0.048
160
P EPL003 Epulis 33 0.048
161
NVS015 Nevus Comedonicus 30 0.048
162
INF028 Infundibulocystic Basal Cell Carcinoma 27 0.048
163
c ORF035 Orofaciodigital Syndrome Iv 25 0.048
164
c CWD005 Cowden Syndrome 4 23 0.048
165
INT049 Intrahepatic Bile Duct Adenoma 23 0.048
166
P PRT063 Proteus-Like Syndrome 22 0.048
167
BCK005 Becker Nevus Syndrome 22 0.048
168
c TRC095 Trichoepithelioma, Multiple Familial, 1 18 0.048
169
PSD079 Pseudoangiomatous Stromal Hyperplasia 17 0.048
170
AND005 Androgen Insensitivity Syndrome, Mild 16 0.048
171
MCH008 Michelin Tire Baby Syndrome 13 0.048
172
CNG238 Congenital Panfollicular Nevus 10 0.048
173
P LNG032 Lung Cancer 95 0.034
174
P PNC035 Pancreatic Cancer 87 0.034
175
CYS001 Cystic Fibrosis 83 0.034
176
NRL016 Neural Tube Defects 76 0.034
177
P LVR013 Liver Disease 75 0.034
178
P HMC003 Hemochromatosis 72 0.034
179
P ALG002 Alagille Syndrome 72 0.034
180
P LYM118 Lymphoma 69 0.034
181
SVR004 Severe Combined Immunodeficiency 69 0.034
182
P CRD011 Cardiomyopathy 68 0.034
183
P MYS003 Myasthenia Gravis 67 0.034
184
EWN003 Ewing Sarcoma 66 0.034
185
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.034
186
P ATS007 Autism Spectrum Disorder 65 0.034
187
P BCL006 B-Cell Lymphomas 65 0.034
188
P TRN020 Turner Syndrome 65 0.034
189
P KDN017 Kidney Cancer 65 0.034
190
AND015 Androgen Insensitivity 64 0.034
191
P CNJ013 Conjunctivitis 64 0.034
192
DFC004 Deficiency Anemia 64 0.034
193
P ANR002 Aniridia 64 0.034
194
P BRD002 Bardet-Biedl Syndrome 63 0.034
195
P HLP001 Holoprosencephaly 63 0.034
196
P OST001 Osteopetrosis 63 0.034
197
PRT036 Peritonitis 63 0.034
198
MLN008 Melanoma 62 0.034
199
CNT047 Contact Dermatitis 61 0.034
200
CHR072 Chordoma 61 0.034
201
CRY002 Cryptorchidism 60 0.034
202
c JBR020 Joubert Syndrome 1 60 0.034
203
PLM031 Poliomyelitis 60 0.034
204
BLL006 Bullous Pemphigoid 59 0.034
205
P UVT001 Uveitis 58 0.034
206
ALP001 Alopecia Universalis 58 0.034
207
P HST010 Histiocytosis 58 0.034
208
CHL071 Child Syndrome 58 0.034
209
KND001 Kindler Syndrome 57 0.034
210
CTS003 Coats Disease 57 0.034
211
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.034
212
RHB003 Rhabdomyosarcoma 57 0.034
213
ALP008 Alopecia 57 0.034
214
ALL010 Allergic Contact Dermatitis 57 0.034
215
ANR040 Aneurysm 57 0.034
216
EPD016 Epidermolysis Bullosa 57 0.034
217
PLY023 Polycystic Liver Disease 56 0.034
218
P OLG002 Oligodendroglioma 56 0.034
219
P LMY004 Leiomyosarcoma 55 0.034
220
P SCL018 Scoliosis 55 0.034
221
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.034
222
P NPH005 Nephronophthisis 55 0.034
223
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 54 0.034
224
CCH002 Coach Syndrome 54 0.034
225
LYM022 Lymphangioma 54 0.034
226
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.034
227
LMY002 Leiomyoma 54 0.034
228
c BRD010 Bardet-Biedl Syndrome 1 54 0.034
229
P MCK022 Meckel Syndrome 1 54 0.034
230
PLY056 Polyposis, Juvenile Intestinal 54 0.034
231
P RNL100 Renal Hypodysplasia/aplasia 1 53 0.034
232
KDS001 Kid Syndrome 53 0.034
233
GNT003 Genital Herpes 53 0.034
234
P LCH002 Lichen Planus 53 0.034
235
PNM008 Pneumothorax 53 0.034
236
EPD053 Epidermal Nevus, Somatic 53 0.034
237
PLS006 Plasmodium Vivax Malaria 53 0.034
238
P EPD003 Epidermolysis Bullosa Simplex 53 0.034
239
ADL002 Adult Syndrome 52 0.034
240
MRK001 Merkel Cell Carcinoma 52 0.034
241
MRG003 Marginal Zone B-Cell Lymphoma 52 0.034
242
IRN001 Iron Deficiency Anemia 52 0.034
243
c LRG001 Large Cell Carcinoma 51 0.034
244
P HYD011 Hydrolethalus Syndrome 51 0.034
245
VRN004 Vernal Keratoconjunctivitis 51 0.034
246
ALL009 Allergic Conjunctivitis 51 0.034
247
ISL001 Islet Cell Tumor 50 0.034
248
CLN015 Colon Adenocarcinoma 50 0.034
249
P DDN001 Duodenal Ulcer 50 0.034
250
CCT002 Cicatricial Pemphigoid 50 0.034
251
PMP001 Pemphigus 50 0.034
252
LPR001 Lepromatous Leprosy 50 0.034
253
HPT074 Hepatic Adenoma, Somatic 50 0.034
254
P JNC001 Junctional Epidermolysis Bullosa 49 0.034
255
P PCH015 Pachyonychia Congenita 1 49 0.034
256
MCR088 Microscopic Polyangiitis 49 0.034
257
P SNR012 Senior-Loken Syndrome-1 49 0.034
258
END021 Endomyocardial Fibrosis 49 0.034
259
P INT063 Intellectual Disability 49 0.034
260
OBS001 Obstructive Jaundice 48 0.034
261
BRL010 Buruli Ulcer 48 0.034
262
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.034
263
MYL003 Myeloid Sarcoma 48 0.034
264
HYP063 Hypersplenism 48 0.034
265
NSD001 Nose Disease 48 0.034
266
P ENC008 Encephalocele 48 0.034
267
CHL004 Cholelithiasis 48 0.034
268
GYN001 Gynecomastia 48 0.034
269
INF058 Inflammatory Myofibroblastic Tumor 47 0.034
270
PLY012 Polyhydramnios 47 0.034
271
MLK006 Milk Allergy 47 0.034
272
MCC002 Mucocutaneous Leishmaniasis 47 0.034
273
P HYP087 Hypotrichosis 46 0.034
274
SPH001 Sapho Syndrome 46 0.034
275
ADR038 Adermatoglyphia 46 0.034
276
P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 46 0.034
277
EPD045 Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 46 0.034
278
LBL001 Lobular Neoplasia 46 0.034
279
EPD006 Epidermolysis Bullosa Acquisita 45 0.034
280
ADN001 Adenosine Deaminase Deficiency 45 0.034
281
c BRD013 Bardet-Biedl Syndrome 12 45 0.034
282
c BRD011 Bardet-Biedl Syndrome 10 45 0.034
283
DYS164 Dyskeratosis Congenita, X-Linked 44 0.034
284
P SDR002 Siderosis 44 0.034
285
CNG048 Congenital Hepatic Fibrosis 44 0.034
286
P ART084 Arteriovenous Fistula 44 0.034
287
c BRD014 Bardet-Biedl Syndrome 2 44 0.034
288
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 44 0.034
289
c JVN003 Juvenile Xanthogranuloma 44 0.034
290
EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 44 0.034
291
LFT009 Left Ventricular Outflow Tract Obstruction 43 0.034
292
FBR019 Fibromatosis 43 0.034
293
HYD012 Hydrops Fetalis 43 0.034
294
CMP034 Complete Androgen Insensitivity Syndrome 43 0.034
295
P SKN013 Skin Benign Neoplasm 43 0.034
296
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 0.034
297
P OSS001 Ossifying Fibroma 42 0.034
298
STT007 Steatocystoma Multiplex 42 0.034
299
c BRD015 Bardet-Biedl Syndrome 3 42 0.034
300
c BRD016 Bardet-Biedl Syndrome 4 42 0.034
301
RNL025 Renal Hypoplasia 42 0.034
302
GLM008 Glomus Tumor 42 0.034
303
MYC033 Myoclonus 42 0.034
304
GST071 Gastrointestinal Carcinoma 42 0.034
305
SMT002 Smooth Muscle Tumor 41 0.034
306
SYR002 Syringocystadenoma Papilliferum 41 0.034
307
PLX002 Plexiform Neurofibroma 41 0.034
308
CHL052 Choledochal Cyst 41 0.034
309
SCL017 Sclerosing Hemangioma 41 0.034
310
SPC010 Speech and Communication Disorders 41 0.034
311
c NPH032 Nephronophthisis 4 41 0.034
312
WBR001 Weber Syndrome 41 0.034
313
c BRD033 Bardet-Biedl Syndrome 13 41 0.034
314
BRN003 Branchiooculofacial Syndrome 41 0.034
315
ANR009 Aneurysmal Bone Cysts 41 0.034
316
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 41 0.034
317
KDN015 Kidney Angiomyolipoma 41 0.034
318
PRS036 Parasitic Protozoa Infectious Disease 41 0.034
319
SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 40 0.034
320
c BRD035 Bardet-Biedl Syndrome 15 40 0.034
321
CYS009 Cystadenoma 40 0.034
322
PRN049 Paraneoplastic Pemphigus 40 0.034
323
SBC012 Subcorneal Pustular Dermatosis 40 0.034
324
LNR006 Linear Iga Disease 40 0.034
325
c BRD020 Bardet-Biedl Syndrome 8 40 0.034
326
ASP008 Aspiration Pneumonitis 39 0.034
327
JBR006 Joubert Syndrome with Oculorenal Anomalies 39 0.034
328
PLM018 Pulmonary Sclerosing Hemangioma 39 0.034
329
CRN055 Carney Triad 39 0.034
330
c BRD048 Bardet-Biedl Syndrome 18 39 0.034
331
P HMF004 Hemifacial Spasm 39 0.034
332
c PCH012 Pachyonychia Congenita 2 39 0.034
333
CRP010 Corpus Callosum Agenesis 38 0.034
334
MYX007 Myxosarcoma 38 0.034
335
c BRD018 Bardet-Biedl Syndrome 6 38 0.034
336
NSL022 Nasal Cavity Disease 38 0.034
337
BLL007 Bullous Skin Disease 38 0.034
338
c HYP507 Hypotrichosis 1 38 0.034
339
c JBR003 Joubert Syndrome and Related Disorders 38 0.034
340
CLP005 Ciliopathy 38 0.034
341
APP016 Apple Allergy 37 0.034
342
ANG037 Angiomatosis 37 0.034
343
P PSD086 Pseudoarthrosis 37 0.034
344
TNG001 Tungiasis 37 0.034
345
BTL002 Beta-Lactam Allergy 36 0.034
346
VSC012 Vesiculobullous Skin Disease 36 0.034
347
HYP015 Hyperlucent Lung 36 0.034
348
DVL001 Developmental Coordination Disorder 36 0.034
349
BLR027 Blue Rubber Bleb Nevus 36 0.034
350
PRR004 Preretinal Fibrosis 36 0.034
351
LCH004 Lichen Disease 36 0.034
352
MCK002 Meckel's Diverticulum 35 0.034
353
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.034
354
PMP002 Pemphigoid Gestationis 35 0.034
355
P CYS007 Cystic Nephroma 35 0.034
356
LVR014 Liver Sarcoma 35 0.034
357
SPN006 Spindle Cell Lipoma 35 0.034
358
EPT011 Epithelioid Leiomyosarcoma 35 0.034
359
ECT004 Ecthyma 35 0.034
360
PNC053 Pancreatic Islet Cell Tumors 35 0.034
361
HRP002 Herpes Gestationis 34 0.034
362
OBS004 Obstructive Hydrocephalus 34 0.034
363
GLS018 Glass Syndrome 34 0.034
364
SLC005 Selective Iga Deficiency Disease 34 0.034
365
PSD008 Pseudopapilledema 34 0.034
366
SPR066 Superficial Siderosis 34 0.034
367
FTD001 Foot Drop 33 0.034
368
HPT006 Hepatic Angiomyolipoma 33 0.034
369
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 33 0.034
370
DDN009 Duodenal Obstruction 32 0.034
371
DYS048 Dysplasia Epiphysealis Hemimelica 32 0.034
372
P MCR241 Microphthalmia, Syndromic 3 32 0.034
373
LYM095 Lymphangiomatosis 32 0.034
374
c SZR008 Seizures, Benign Neonatal, 1 32 0.034
375
LCH013 Lichen Planus Pemphigoides 32 0.034
376
CLC011 Cloacal Exstrophy 32 0.034
377
c RTN051 Retinitis Pigmentosa 22 32 0.034
378
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 31 0.034
379
c PLY057 Polydactyly, Postaxial, Types A1 and B 31 0.034
380
HYM001 Hymenolepiasis 31 0.034
381
GST039 Gastroduodenitis 31 0.034
382
VSL002 Visual Epilepsy 31 0.034
383
CBB002 Cobb Syndrome 30 0.034
384
NRT002 Neurotic Excoriation 30 0.034
385
TRP020 Tropical Endomyocardial Fibrosis 30 0.034
386
MCR096 Macrocephaly/autism Syndrome 30 0.034
387
DVR006 Diversion Colitis 30 0.034
388
ANG004 Angioid Streaks 30 0.034
389
FCL003 Facial Hemiatrophy 30 0.034
390
SPN012 Spindle Cell Hemangioma 30 0.034
391
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 29 0.034
392
ANK008 Ankyloglossia 29 0.034
393
ATM016 Autoimmune Disease of Skin and Connective Tissue 29 0.034
394
ADN064 Adenohypophysitis 28 0.034
395
BRN055 Bronchogenic Cyst 28 0.034
396
MHR002 Mohr Syndrome 28 0.034
397
ENP001 Enophthalmos 28 0.034
398
DST008 Diastematomyelia 27 0.034
399
BYL001 Baylisascariasis 27 0.034
400
DPH006 Diaphragmatic Eventration 27 0.034
401
c CWD008 Cowden Syndrome 6 27 0.034
402
SPR032 Superficial Siderosis of the Central Nervous System 26 0.034
403
HNM002 Hinman Syndrome 25 0.034
404
c PCH010 Pachyonychia Congenita 3 25 0.034
405
TBR003 Tuberculous Epididymitis 25 0.034
406
c CWD003 Cowden Syndrome 2 25 0.034
407
c MNS008 Monosomy 21 25 0.034
408
SHR098 Short-Rib Thoracic Dysplasia 12 25 0.034
409
CLL036 Culler-Jones Syndrome 24 0.034
410
c CWD004 Cowden Syndrome 5 24 0.034
411
c PLY121 Polydactyly, Preaxial, Type Iv 23 0.034
412
c CWD007 Cowden Syndrome 3 23 0.034
413
GLF001 Gliofibroma 23 0.034
414
INF048 Infantile Histiocytoid Cardiomyopathy 22 0.034
415
c PCH011 Pachyonychia Congenita 4 22 0.034
416
GGN004 Gigantomastia 22 0.034
417
MLN009 Melanotic Neurilemmoma 20 0.034
418
P CTS012 Cutis Verticis Gyrata 19 0.034
419
STR029 Sternal Cleft 18 0.034
420
c ORF043 Orofaciodigital Syndrome Ix 17 0.034
421
EPG004 Epignathus 17 0.034
422
ANG024 Angiofollicular Lymph Hyperplasia 15 0.034
423
c CNG120 Congenital Pseudoarthrosis 15 0.034
424
c ATS172 Autism 10 15 0.034
425
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 14 0.034
426
c CWD009 Cowden Syndrome 7 13 0.034
427
BLD035 Bile Duct Cystadenoma 11 0.034
428
CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 10 0.034
429
MCR034 Macrodactyly of the Foot 9 0.034
430
ABS002 Absence of Gluteal Muscle 8 0.034