Search results for "nevus"

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

617 hits were found for 'nevus'

# Family MCID Name MIFTS Score
1
GNT020 Giant Congenital Nevus 20 5.267
2
HRD006 Hereditary Mucosal Leukokeratosis 40 5.033
3
INF057 Inflammatory Linear Verrucous Epidermal Nevus 31 4.993
4
BCK005 Becker Nevus Syndrome 28 4.977
5
EPD037 Epidermal Nevus 55 4.564
6
BLR015 Blue Rubber Bleb Nevus Syndrome 41 4.512
7
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 32 4.194
8
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 4.186
9
LNR003 Linear Nevus Sebaceous Syndrome 23 4.139
10
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 42 3.637
11
INC001 Incontinentia Pigmenti Achromians 56 3.618
12
NVS007 Nevus of Ota 25 3.611
13
SPT007 Spitz Nevus 46 3.559
14
TCH005 Tièche-Jadassohn Nevus 11 3.354
15
ATY019 Atypical Mole Syndrome 40 3.308
16
DYS002 Dysplastic Nevus Syndrome 36 3.042
17
PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 13 2.987
18
SCL044 Scalp Syndrome 12 2.966
19
WLL023 Woolly Hair Nevus 16 2.740
20
CNJ017 Conjunctival Nevus 10 2.669
21
CPL006 Capillary Hemangioma 57 2.600
22
EPD053 Epidermal Nevus, Somatic 40 2.589
23
ALT005 Aloi Tomasini Isaia Syndrome 7 2.551
24
VRR005 Verrucous Nevus Acanthokeratolytic 6 2.551
25
STR005 Stork Bite 8 2.535
26
NVS005 Nevus Cavernosus 2 2.535
27
PHC005 Phacomatosis Pigmentokeratotica 15 2.223
28
NVS012 Nevus Comedonicus Syndrome 20 2.215
29
ANG056 Angora Hair Nevus 7 2.131
30
PPL044 Papular Elastorrhexis 15 2.119
31
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 2.105
32
ELS005 Elastoma 17 2.105
33
c WHT013 White Sponge Nevus 1 8 2.105
34
CNG238 Congenital Panfollicular Nevus 7 2.105
35
EPD026 Epidermal Nevus Vitamin D Resistant Rickets 3 2.105
36
CHL079 Children's Interstitial Lung Disease 41 2.089
37
NVS013 Nevus Sebaceous, Somatic 34 2.089
38
LNR012 Linear Verrucous Nevus Syndrome 14 2.089
39
CRN096 Craniosynostosis Exostoses Nevus Epibulbar Dermoid 1 2.089
40
P WHT015 White Sponge Nevus 2 8 2.070
41
P WHT008 White Sponge Nevus of Cannon, Krt13-Related 4 2.070
42
c WHT009 White Sponge Nevus of Cannon, Krt4-Related 4 2.070
43
NVS014 Nevus Mucinosis 1 2.070
44
P CRN008 Carney Complex 67 1.601
45
HLN001 Halo Nevi 33 1.549
46
LNR007 Linear and Whorled Nevoid Hypermelanosis 24 1.537
47
P LPR002 Leopard Syndrome 75 1.523
48
MLN020 Melanoma, Malignant, Somatic 55 1.523
49
DDY001 Didymosis Aplasticosebacea 10 1.523
50
CHL071 Child Syndrome 31 1.507
51
BSL013 Basaloid Follicular Hamartoma 16 1.488
52
P NVF002 Nevi Flammei 13 1.488
53
c GPH001 Gphn-Related Hyperekplexia 8 1.464
54
NVD002 Nevada Syndrome 6 1.464
55
P MLN008 Melanoma 64 0.392
56
STR039 Sturge-Weber Syndrome 55 0.151
57
WBR001 Weber Syndrome 50 0.151
58
P HMN010 Hemangioma 70 0.145
59
P RCK004 Rickets 67 0.145
60
P BSL007 Basal Cell Carcinoma 66 0.145
61
SYR002 Syringocystadenoma Papilliferum 47 0.145
62
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.135
63
SYN053 Syndromic Diarrhea 34 0.125
64
CHR469 Choristoma 27 0.125
65
ACN002 Acanthosis Nigricans 64 0.118
66
CHR008 Choroiditis 53 0.118
67
NRC006 Neurocutaneous Melanosis 26 0.114
68
SKN016 Skin Disease 74 0.111
69
CRB009 Cerebritis 38 0.111
70
P EPD002 Epidermolytic Hyperkeratosis 72 0.107
71
PSR002 Psoriasis 62 0.107
72
c CTN021 Cutaneous Malignant Melanoma 45 0.107
73
P NRF002 Neurofibromatosis 94 0.098
74
c MNN013 Meningitis 67 0.098
75
HMH002 Hemihypertrophy 64 0.098
76
HMM003 Hemimegalencephaly 54 0.098
77
KRT009 Keratosis 49 0.098
78
P ATX010 Ataxia Neuropathy Spectrum 47 0.098
79
ANK002 Ankylosing Spondylitis 76 0.093
80
P ANG001 Angelman Syndrome 71 0.093
81
LPM004 Lipoma 65 0.093
82
ART019 Aortic Valve Stenosis 63 0.093
83
THR013 Thoracic Outlet Syndrome 52 0.093
84
AND002 Androgen Insensitivity Syndrome 80 0.089
85
c AXN002 Axenfeld-Rieger Syndrome 69 0.089
86
ART005 Arteriovenous Malformation 62 0.089
87
MYC002 Mycobacterium Avium Complex Disease 58 0.089
88
SBR005 Seborrheic Keratosis 52 0.089
89
c KRT005 Keratoacanthoma 50 0.089
90
P APL006 Aplasia Cutis Congenita 50 0.089
91
P CTS012 Cutis Verticis Gyrata 22 0.089
92
c BNG076 Benign Exophthalmos Syndrome 22 0.089
93
AND005 Androgen Insensitivity Syndrome, Mild 21 0.089
94
ALP008 Alopecia 59 0.084
95
RHB003 Rhabdomyosarcoma 58 0.084
96
MNG001 Mongolian Spot 58 0.084
97
c CTR002 Cataract 57 0.084
98
HYP077 Hypertrichosis 53 0.084
99
MNN001 Meningeal Melanocytoma 26 0.084
100
P ATX002 Ataxia Telangiectasia 87 0.078
101
P MDL005 Medulloblastoma 80 0.078
102
VTL002 Vitiligo 60 0.078
103
EPD016 Epidermolysis Bullosa 57 0.078
104
NRF007 Neurofibroma 57 0.078
105
ART001 Arterial Tortuosity Syndrome 55 0.078
106
AND003 Andersen-Tawil Syndrome 53 0.078
107
P SZR006 Seizure Disorder 50 0.078
108
MGL013 Megalencephaly 45 0.078
109
ANG037 Angiomatosis 38 0.078
110
DRM006 Dermatitis 65 0.072
111
ADN018 Adenoma 65 0.072
112
c MNT147 Mental Retardation 56 0.072
113
LPM005 Lipomatosis 55 0.072
114
ACN010 Acanthoma 46 0.072
115
PHC006 Phacomatosis Pigmentovascularis 30 0.072
116
SRC014 Sarcoma 68 0.066
117
MYC006 Mycosis Fungoides 68 0.066
118
GNG013 Gingivitis 60 0.066
119
INT051 Intussusception 60 0.066
120
P PRC019 Precocious Puberty 59 0.066
121
OST014 Osteopoikilosis 59 0.066
122
P CRV039 Cervicitis 57 0.066
123
LYM022 Lymphangioma 53 0.066
124
c FML024 Familial Melanoma 51 0.066
125
c CNT075 Central Precocious Puberty 46 0.066
126
EPL002 Epilepsy Syndrome 45 0.066
127
SPR033 Superficial Spreading Melanoma 43 0.066
128
PRL042 Proliferating Trichilemmal Cyst 42 0.066
129
P CLR001 Clear Cell Acanthoma 38 0.066
130
INT080 Intraocular Melanoma 33 0.066
131
NRC019 Neurocutaneous Melanosis, Somatic 30 0.066
132
c SPR036 Supernumerary Nipples 24 0.066
133
APC003 Apocrine Adenoma 21 0.066
134
P RBN001 Rubinstein-Taybi Syndrome 77 0.059
135
THY028 Thyroid Cancer 74 0.059
136
RNL002 Renal Agenesis 69 0.059
137
CLB001 Coloboma 68 0.059
138
PPL022 Papilloma 65 0.059
139
P UVL004 Uveal Melanoma 64 0.059
140
DFC004 Deficiency Anemia 62 0.059
141
LCH002 Lichen Planus 61 0.059
142
P SNS014 Sinusitis 57 0.059
143
IRN001 Iron Deficiency Anemia 56 0.059
144
P SYR003 Syringoma 54 0.059
145
MLL001 Molluscum Contagiosum 51 0.059
146
PRT093 Proteus Syndrome, Somatic 46 0.059
147
CTS011 Cutis Marmorata Telangiectatica Congenita 45 0.059
148
HMN016 Hemangioendothelioma 45 0.059
149
P CLR017 Clear Cell Sarcoma 44 0.059
150
ANG016 Angiokeratoma 44 0.059
151
c HRD086 Hereditary Hypophosphatemic Rickets 43 0.059
152
NRN002 Neuronitis 43 0.059
153
INT098 Intracranial Arteriovenous Malformation 29 0.059
154
MLN013 Melanoma Metastasis 28 0.059
155
CGN001 Cogan-Reese Syndrome 20 0.059
156
P RHM011 Rheumatoid Arthritis 94 0.051
157
P TBR001 Tuberous Sclerosis 86 0.051
158
P ART022 Arthritis 74 0.051
159
c THR014 Thrombocytopenia 69 0.051
160
KLP002 Klippel-Trenaunay Syndrome 69 0.051
161
LMY002 Leiomyoma 67 0.051
162
SPN038 Spina Bifida 66 0.051
163
c AMY001 Amyotrophic Lateral Sclerosis 66 0.051
164
c THY032 Thyroiditis 65 0.051
165
STT001 Status Epilepticus 65 0.051
166
TRN018 Transitional Cell Carcinoma 63 0.051
167
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.051
168
DSS009 Disseminated Intravascular Coagulation 61 0.051
169
c EPD003 Epidermolysis Bullosa Simplex 61 0.051
170
c OCL002 Oculocutaneous Albinism 60 0.051
171
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.051
172
P CWD006 Cowden Syndrome 1 59 0.051
173
c OPN001 Open-Angle Glaucoma 59 0.051
174
P ICH001 Ichthyosis Vulgaris 59 0.051
175
FCL009 Focal Dermal Hypoplasia 58 0.051
176
CTN014 Cutaneous Mastocytosis 58 0.051
177
FLL008 Folliculitis 57 0.051
178
ACN011 Acne 57 0.051
179
P SPR013 Spiradenoma 55 0.051
180
CHL069 Cholesteatoma 54 0.051
181
c ACR001 Aicardi-Goutieres Syndrome 54 0.051
182
HDR004 Hidradenoma 54 0.051
183
RTN023 Retinitis 53 0.051
184
ECC004 Eccrine Porocarcinoma 51 0.051
185
MLK003 Melkersson-Rosenthal Syndrome 51 0.051
186
PLX002 Plexiform Neurofibroma 49 0.051
187
CNG008 Congenital Ichthyosiform Erythroderma 49 0.051
188
c CNT035 Central Nervous System Disease 48 0.051
189
ALB002 Albinism 48 0.051
190
AML029 Ameloblastoma 48 0.051
191
HYP017 Hypophosphatemia 48 0.051
192
NDL001 Nodular Malignant Melanoma 47 0.051
193
SKN019 Skin Melanoma 45 0.051
194
GRN003 Granulomatous Dermatitis 39 0.051
195
BLP004 Blepharophimosis 37 0.051
196
SPN221 Spina Bifida Occulta 31 0.051
197
CLK001 C-Like Syndrome 30 0.051
198
ANH001 Ainhum 30 0.051
199
ORB015 Orbital Melanoma 24 0.051
200
VRT001 Vertebral Artery Occlusion 22 0.051
201
OPT032 Optic Pathway Glioma 21 0.051
202
RGN005 Regional Odontodysplasia 18 0.051
203
P CHR090 Chronic Lymphocytic Leukemia 88 0.042
204
P LFR001 Li-Fraumeni Syndrome 88 0.042
205
P RTN008 Retinitis Pigmentosa 86 0.042
206
P HYP075 Hypertension 85 0.042
207
PLY001 Polycythemia Vera 85 0.042
208
P BRS047 Breast Cancer 85 0.042
209
P LKM002 Leukemia 76 0.042
210
P OST002 Osteoporosis 76 0.042
211
P MST009 Mastocytosis 75 0.042
212
P CLC005 Celiac Disease 74 0.042
213
c PLM037 Pulmonary Hypertension 73 0.042
214
P DRM010 Dermatomyositis 71 0.042
215
CHR029 Choroid Plexus Papilloma 71 0.042
216
P PRM005 Primary Hyperparathyroidism 70 0.042
217
c CRN037 Craniosynostosis 69 0.042
218
P HYD006 Hydrocephalus 69 0.042
219
P BCK002 Beckwith-Wiedemann Syndrome 68 0.042
220
c PNC044 Pancreatitis 68 0.042
221
P THY023 Thymoma 68 0.042
222
PBL001 Piebaldism 66 0.042
223
DMN002 Dementia 66 0.042
224
VSC011 Vasculitis 65 0.042
225
PHR003 Pharyngitis 65 0.042
226
XLN002 X-Linked Hypophosphatemia 64 0.042
227
c SCL016 Scleroderma 64 0.042
228
P ALP009 Alopecia Areata 64 0.042
229
c HYP069 Hyperparathyroidism 64 0.042
230
CTS003 Coats Disease 63 0.042
231
ARC007 Arachnoid Cysts 62 0.042
232
c KDN018 Kidney Disease 62 0.042
233
P XRD018 Xeroderma Pigmentosum, Group a 62 0.042
234
VGN023 Vaginitis 62 0.042
235
NRP001 Neuropathy 61 0.042
236
c LCL006 Localized Scleroderma 59 0.042
237
c PLY018 Polycythemia 59 0.042
238
c TRT010 Teratoma 58 0.042
239
P ADN016 Adenocarcinoma 58 0.042
240
P HRM005 Hermansky-Pudlak Syndrome 1 58 0.042
241
GLM004 Gliomatosis Cerebri 58 0.042
242
c ATX004 Ataxia 58 0.042
243
EPT020 Epithelioid Hemangioendothelioma 57 0.042
244
SCN006 Secondary Syphilis 56 0.042
245
P PLY006 Polydactyly 56 0.042
246
MLG077 Malignant Peripheral Nerve Sheath Tumor 56 0.042
247
CYS002 Cystic Lymphangioma 56 0.042
248
TLP001 Talipes Equinovarus 55 0.042
249
c LPR012 Leopard Syndrome 1 55 0.042
250
P EXP004 Exophthalmos 54 0.042
251
HST009 Histiocytoma 54 0.042
252
P JVN003 Juvenile Xanthogranuloma 53 0.042
253
AML001 Amelanotic Melanoma 52 0.042
254
CLC006 Calcinosis 52 0.042
255
OST011 Osteomalacia 52 0.042
256
P CLF002 Cleft Palate 51 0.042
257
THR009 Thrombocytopenia-Absent Radius Syndrome 50 0.042
258
FBR009 Fibrous Dysplasia 50 0.042
259
c SYN001 Syndactyly 50 0.042
260
GRM009 Germ Cell Tumors 49 0.042
261
GNG002 Ganglioneuroma 48 0.042
262
ACR014 Acral Lentiginous Melanoma 48 0.042
263
c PRN026 Porencephaly 47 0.042
264
P ART084 Arteriovenous Fistula 46 0.042
265
TNG009 Tongue Squamous Cell Carcinoma 45 0.042
266
MCR018 Microcytic Anemia 45 0.042
267
ARC002 Arachnoiditis 44 0.042
268
FML055 Familial Cylindromatosis 44 0.042
269
CRT015 Carotid Artery Occlusion 44 0.042
270
GLM034 Glomuvenous Malformation 43 0.042
271
CHN004 Chondroblastoma 42 0.042
272
P RBN011 Robinow Syndrome, Autosomal Dominant 42 0.042
273
FLL019 Follicular Mucinosis 39 0.042
274
P GLM006 Glomangioma 37 0.042
275
OCL022 Ocular Melanoma 37 0.042
276
LYM095 Lymphangiomatosis 37 0.042
277
P WLL018 Woolly Hair, Autosomal Dominant 37 0.042
278
IPX001 Ipex Syndrome 36 0.042
279
ENP001 Enophthalmos 35 0.042
280
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 34 0.042
281
c CRB059 Cerebellar Degeneration 34 0.042
282
DYS012 Dyshidrosis 34 0.042
283
c RBN009 Robinow Syndrome, Autosomal Recessive 33 0.042
284
EPD004 Epidermolytic Acanthoma 30 0.042
285
MLR010 Melorheostosis with Osteopoikilosis 29 0.042
286
c PRC047 Precocious Puberty, Central, 1 28 0.042
287
HMP001 Hemopericardium 28 0.042
288
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 28 0.042
289
CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 26 0.042
290
TRT006 Torticollis Keloids Cryptorchidism Renal Dysplasia 22 0.042
291
MLN005 Melanoacanthoma 22 0.042
292
PRG098 Progéria - Short Stature - Pigmented Nevi 21 0.042
293
CRN197 Coronary Arterial Fistulas 21 0.042
294
P CMP019 Camptodactyly Syndrome Guadalajara Type 1 21 0.042
295
c WLL010 Woolly Hair Syndrome 19 0.042
296
TRC052 Trichofolliculoma 19 0.042
297
SCL014 Scleral Staphyloma 19 0.042
298
LMY001 Leiomyoma Cutis 18 0.042
299
CTN010 Cutaneous Ganglioneuroma 18 0.042
300
RTC001 Reticulohistiocytic Granuloma 17 0.042
301
PHK006 Phakomatosis Pigmentokeratotica 15 0.042
302
XLN130 X-Linked Intellectual Disability - Cubitus Valgus - Dysmorphism 14 0.042
303
ORB016 Orbital Varix 14 0.042
304
MNN010 Meningeal Melanoma 13 0.042
305
MLG061 Malignant Choroid Melanoma 12 0.042
306
GLL012 Gallbladder Melanoma 10 0.042
307
MLL015 Mills Syndrome 10 0.042
308
P ALZ001 Alzheimer's Disease 98 0.030
309
P LVR011 Liver Cancer 90 0.030
310
KPS001 Kaposi's Sarcoma 86 0.030
311
FBR012 Fabry Disease 85 0.030
312
SMT004 Smith-Lemli-Opitz Syndrome 84 0.030
313
CDS001 Cadasil 84 0.030
314
P RTN024 Retinoblastoma 83 0.030
315
VNH001 Von Hippel-Lindau Disease 81 0.030
316
P PRM021 Primary Pulmonary Hypertension 80 0.030
317
c NNN003 Noonan Syndrome 79 0.030
318
P MNN012 Meningioma 78 0.030
319
CRZ001 Crouzon Syndrome 78 0.030
320
PTZ001 Peutz-Jeghers Syndrome 77 0.030
321
P CLR023 Colorectal Cancer 77 0.030
322
P LPR003 Leprosy 77 0.030
323
PGT001 Paget's Disease of Bone 76 0.030
324
P ALX003 Alexander Disease 76 0.030
325
P JVN014 Juvenile Polyposis Syndrome 75 0.030
326
MCC001 Mccune Albright Syndrome 75 0.030
327
c LPS004 Lupus Erythematosus 75 0.030
328
c PRM002 Primary Hyperoxaluria 73 0.030
329
P CNG368 Congenital Adrenal Hyperplasia 72 0.030
330
NNH001 Non-Hodgkin Lymphoma 72 0.030
331
P MGR002 Migraine 71 0.030
332
VSC007 Vascular Disease 69 0.030
333
P MRT001 Muir-Torre Syndrome 69 0.030
334
P KDN017 Kidney Cancer 69 0.030
335
P CNG401 Congenital Heart Disease 69 0.030
336
DSM004 Desmoid Tumor 68 0.030
337
P NNN008 Noonan Syndrome 1 68 0.030
338
P MLG068 Malignant Glioma 68 0.030
339
FLL032 Follicular Thyroid Carcinoma 67 0.030
340
P TRN020 Turner Syndrome 67 0.030
341
P CRD013 Cardiofaciocutaneous Syndrome 66 0.030
342
OLL001 Ollier Disease 66 0.030
343
ACT049 Acute Disseminated Encephalomyelitis 66 0.030
344
CST001 Costello Syndrome 66 0.030
345
c XRD001 Xeroderma Pigmentosum 65 0.030
346
P PCH001 Pachyonychia Congenita 64 0.030
347
HYP004 Hypercalcemia 64 0.030
348
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 63 0.030
349
RBR001 Roberts Syndrome 63 0.030
350
P RNL014 Renal Cell Carcinoma 63 0.030
351
P KRT004 Keratitis 63 0.030
352
CLN045 Colonic Benign Neoplasm 63 0.030
353
LRN003 Learning Disability 62 0.030
354
c PLY014 Polycystic Kidney Disease 61 0.030
355
WLF002 Wolf-Hirschhorn Syndrome 61 0.030
356
c BRC006 Brachydactyly 60 0.030
357
c DYS154 Dystonia 60 0.030
358
P PRT008 Proteus Syndrome 60 0.030
359
P LPS002 Liposarcoma 60 0.030
360
CRB021 Cerebral Malaria 59 0.030
361
P PPL020 Papillary Thyroid Carcinoma 59 0.030
362
MYX005 Myxoid Liposarcoma 59 0.030
363
c PRG013 Paraganglioma 59 0.030
364
SWT001 Sweat Gland Carcinoma 58 0.030
365
EYD002 Eye Disease 58 0.030
366
KDS001 Kid Syndrome 58 0.030
367
LPD010 Lipodystrophy 58 0.030
368
ACR013 Acrodysostosis 58 0.030
369
OST016 Osteochondrosis 58 0.030
370
c TRC011 Treacher Collins Syndrome 57 0.030
371
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 57 0.030
372
PLM020 Pleomorphic Xanthoastrocytoma 57 0.030
373
BRN029 Brain Disease 57 0.030
374
MLB001 Mulibrey Nanism 57 0.030
375
SNS001 Sensorineural Hearing Loss 57 0.030
376
EPD001 Epidermodysplasia Verruciformis 57 0.030
377
P CNG052 Congenital Amegakaryocytic Thrombocytopenia 56 0.030
378
ADN009 Adenosquamous Carcinoma 56 0.030
379
MCR103 Microtia 56 0.030
380
RTN017 Retinal Detachment 56 0.030
381
PYD001 Pyoderma Gangrenosum 56 0.030
382
c MCR010 Microcephaly 56 0.030
383
c KBK001 Kabuki Syndrome 56 0.030
384
FLL026 Fallopian Tube Cancer 55 0.030
385
MYM001 Myoma 55 0.030
386
CTY001 Cat Eye Syndrome 55 0.030
387
MMM001 Mammary Paget's Disease 55 0.030
388
P RCS002 Recessive Dystrophic Epidermolysis Bullosa 54 0.030
389
c HRM001 Hermansky-Pudlak Syndrome 54 0.030
390
P PND001 Pain Disorder 54 0.030
391
c PSD015 Pseudohypoparathyroidism 54 0.030
392
WLL001 Williams-Beuren Syndrome 54 0.030
393
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.030
394
PTS001 Patau Syndrome 53 0.030
395
RHY001 Rhyns Syndrome 53 0.030
396
GNG004 Ganglioglioma 53 0.030
397
c PST022 Posterior Uveal Melanoma 53 0.030
398
LNN001 Lennox-Gastaut Syndrome 53 0.030
399
P ENC008 Encephalocele 53 0.030
400
P PRN022 Perineurioma 53 0.030
401
P PRK001 Porokeratosis 52 0.030
402
HMP005 Hemiplegia 52 0.030
403
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.030
404
c LYM025 Lymphedema 52 0.030
405
P CNG001 Congenital Myasthenic Syndrome 52 0.030
406
TBR022 Tuberous Sclerosis Complex 51 0.030
407
SNG010 Single Median Maxillary Central Incisor 51 0.030
408
GNG005 Gangliocytoma 51 0.030
409
P STR020 Strabismus 51 0.030
410
RNL011 Renal Osteodystrophy 51 0.030
411
PYD002 Pyoderma 51 0.030
412
MNN014 Mononeuritis 51 0.030
413
END041 Endometrial Adenocarcinoma 50 0.030
414
P SBC035 Subacute Cutaneous Lupus Erythematosus 50 0.030
415
END072 Endotheliitis 50 0.030
416
OTS002 Otospondylomegaepiphyseal Dysplasia 50 0.030
417
c CRB126 Cerebral Cavernous Malformation 50 0.030
418
PGT004 Paget Disease, Juvenile 50 0.030
419
PSD014 Pseudopseudohypoparathyroidism 49 0.030
420
P ALV004 Alveolar Rhabdomyosarcoma 49 0.030
421
INF058 Inflammatory Myofibroblastic Tumor 49 0.030
422
PYG006 Pyogenic Granuloma 49 0.030
423
c FRN023 Frontonasal Dysplasia 49 0.030
424
TLN003 Telangiectasis 49 0.030
425
SFT003 Soft Tissue Sarcoma 49 0.030
426
SKN023 Skin Tag 48 0.030
427
SCH016 Schimke Immunoosseous Dysplasia 48 0.030
428
LCH009 Lichen Sclerosus 48 0.030
429
P FML084 Familial Porencephaly 47 0.030
430
c CTN003 Cutaneous Lupus Erythematosus 47 0.030
431
BRN003 Branchiooculofacial Syndrome 47 0.030
432
P VNS003 Venous Insufficiency 47 0.030
433
P ATR066 Atrial Septal Defect 2 47 0.030
434
PLM070 Pulmonic Stenosis 47 0.030
435
P MLT055 Multiple Pterygium Syndrome Lethal Type 47 0.030
436
P HMR005 Hemorrhoid 46 0.030
437
PRG034 Progressive Osseous Heteroplasia 46 0.030
438
LKP003 Leukoplakia 45 0.030
439
MCP006 Mucoepidermoid Carcinoma 45 0.030
440
KRT012 Keratoderma 45 0.030
441
DYS018 Dysostosis 45 0.030
442
DNR001 Duane Retraction Syndrome 45 0.030
443
OPT037 Optic Nerve Hypoplasia 45 0.030
444
VLL006 Villous Adenoma 44 0.030
445
GRM004 Germinoma 44 0.030
446
AGN013 Agenesis of the Corpus Callosum 44 0.030
447
c HRD004 Hereditary Breast Ovarian Cancer 44 0.030
448
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 44 0.030
449
MLG083 Male Germ Cell Tumor 44 0.030
450
OTP005 Oto-Palato-Digital Syndrome Type 2 44 0.030
451
CHN015 Chondrodysplasia 43 0.030
452
NNT012 Neonatal Jaundice 43 0.030
453
HYP466 Hyperplastic Polyposis Syndrome 43 0.030
454
c INF037 Inflammatory Bowel Disease 43 0.030
455
P CYS017 Cystic Teratoma 43 0.030
456
ADL002 Adult Syndrome 42 0.030
457
TTH002 Tooth Agenesis 42 0.030
458
GPS001 Gapo Syndrome 42 0.030
459
PRR013 Prurigo Nodularis 42 0.030
460
INT071 Intestinal Perforation 42 0.030
461
PTY002 Pityriasis Versicolor 42 0.030
462
c HYP087 Hypotrichosis 42 0.030
463
c TRS004 Torsion Dystonia 41 0.030
464
CRB077 Cerebro-Costo-Mandibular Syndrome 41 0.030
465
CND005 Cone Dystrophy 41 0.030
466
MLR003 Melorheostosis 40 0.030
467
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.030
468
CLR034 Colorectal Cancer, Somatic 40 0.030
469
SKN005 Skin Atrophy 40 0.030
470
MLT054 Multiple Pterygium Syndrome Escobar Type 40 0.030
471
P DNS004 Duane Syndrome Type 2 40 0.030
472
SCT002 Scotoma 40 0.030
473
AND001 Anodontia 39 0.030
474
OTP004 Oto-Palato-Digital Syndrome Type 1 39 0.030
475
SBC009 Sebaceous Adenoma 38 0.030
476
ADN002 Adenoiditis 37 0.030
477
VCL001 Vacuolar Myopathy 37 0.030
478
CLF027 Cleft Palate, Isolated 37 0.030
479
INT145 Intracranial Hemorrhage in Brain Cerebrovascular Malformations 37 0.030
480
CTN004 Cutaneous Fibrous Histiocytoma 37 0.030
481
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 37 0.030
482
PHC004 Phace Syndrome 36 0.030
483
ANG017 Angiolipoma 36 0.030
484
c ATS061 Autosomal Recessive Hypotrichosis 36 0.030
485
IMM088 Immunodeficiency 36 36 0.030
486
ENC010 Encephalocraniocutaneous Lipomatosis 36 0.030
487
CVR010 Cavernous Malformation 35 0.030
488
SKL017 Skeletal Dysplasias 35 0.030
489
P PRK003 Parkes Weber Syndrome 35 0.030
490
THY059 Thyroid Carcinoma, Follicular, Somatic 35 0.030
491
ADS002 Adie Syndrome 35 0.030
492
15Q001 15q13.3 Microdeletion 34 0.030
493
P ANG013 Angioma Serpiginosum 34 0.030
494
ELS002 Elastosis Perforans Serpiginosa 34 0.030
495
CLN030 Colon Cancer, Somatic 34 0.030
496
P CHN018 Chondrodysplasia Punctata 2, X-Linked 34 0.030
497
FCT013 Factor V Leiden Thrombophilia 34 0.030
498
ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 33 0.030
499
CLN029 Colonic Adenoma Recurrence, Reduced Risk of 33 0.030
500
c OCL035 Oculocutaneous Albinism Type 1b 33 0.030
501
INT052 Intestinal Volvulus 33 0.030
502
FCL003 Facial Hemiatrophy 32 0.030
503
FCS005 Faces Syndrome 32 0.030
504
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 31 0.030
505
DRM003 Dermatosis Papulosa Nigra 31 0.030
506
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 31 0.030
507
P OMD001 Omodysplasia 1 31 0.030
508
CHL028 Childhood Type Dermatomyositis 31 0.030
509
P ATR010 Atrial Heart Septal Defect 31 0.030
510
BZX002 Bazex-Dupre-Christol Syndrome 30 0.030
511
ACR066 Acrodysostosis 1, with or Without Hormone Resistance 30 0.030
512
NDL010 Nodular Hidradenoma 30 0.030
513
CBB002 Cobb Syndrome 30 0.030
514
LYM060 Lymphoma, Non-Hodgkin, Somatic 29 0.030
515
DNC004 Diencephalic Syndrome 29 0.030
516
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.030
517
BSC004 Buschke Ollendorff Syndrome 29 0.030
518
ECS001 Eec Syndrome 29 0.030
519
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 29 0.030
520
MYF001 Myofibroma 28 0.030
521
P PLY034 Polydactyly Preaxial Type 4 28 0.030
522
HNM002 Hinman Syndrome 28 0.030
523
TFT003 Tufting Enteropathy 28 0.030
524
ECT004 Ecthyma 27 0.030
525
LCH014 Lichen Amyloidosis 27 0.030
526
HRT011 Heart Septal Defect 27 0.030
527
LCH007 Lichen Planus Follicularis 27 0.030
528
P OTD002 Otodental Syndrome 27 0.030
529
IRN002 Iron Metabolism Disease 27 0.030
530
TNN001 Tinea Nigra 27 0.030
531
NGL002 Naegeli Syndrome 27 0.030
532
MLT029 Multiple Cutaneous and Mucosal Venous Malformations 27 0.030
533
RHB020 Rhabdomyosarcoma, Somatic 27 0.030
534
KRT036 Keratosis, Seborrheic, Somatic 27 0.030
535
WYB001 Wyburn Mason's Syndrome 26 0.030
536
c CTR120 Cataract, Congenital 26 0.030
537
JVN017 Juvenile Macular Degeneration and Hypotrichosis 26 0.030
538
DFF022 Diffuse Neonatal Hemangiomatosis 26 0.030
539
ECC002 Eccrine Acrospiroma 26 0.030
540
BSL021 Basal Cell Carcinoma, Somatic 25 0.030
541
HRD099 Hereditary Benign Intraepithelial Dyskeratosis 25 0.030
542
P DYS139 Dyschromatosis Universalis Hereditaria 3 25 0.030
543
c SKN013 Skin Benign Neoplasm 25 0.030
544
TCK004 Tick Infestation 25 0.030
545
HMR039 Hemorrhage, Intracerebral 24 0.030
546
ARG004 Argyria 24 0.030
547
c CHN029 Chondrodysplasia Punctata 2 X-Linked Dominant 23 0.030
548
HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 23 0.030
549
BLP017 Blepharo-Cheilo-Odontic Syndrome 23 0.030
550
HYP207 Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 23 0.030
551
OCL039 Oculoectodermal Syndrome 23 0.030
552
CRN083 Craniofacial Dyssynostosis 23 0.030
553
PLV016 Pelvis Syndrome 22 0.030
554
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 22 0.030
555
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 21 0.030
556
CRN049 Craniolenticulosutural Dysplasia 21 0.030
557
c ACR049 Acrospiroma 21 0.030
558
PGM002 Pigmented Basal Cell Carcinoma 21 0.030
559
c BSL011 Basal Cell Carcinoma, Multiple 21 0.030
560
ARM005 Armfield Syndrome 21 0.030
561
CRB053 Cerebellar Agenesis 21 0.030
562
PRP021 Peripheral Nervous System Neoplasm 21 0.030
563
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 20 0.030
564
IND004 Indeterminate Leprosy 20 0.030
565
DRM023 Dermoodontodysplasia 20 0.030
566
ALP065 Alopecia - Epilepsy - Pyorrhea - Intellectual Disability 20 0.030
567
PCT001 Pectus Carinatum 20 0.030
568
CLB009 Coloboma of Iris 19 0.030
569
KSK001 Kuskokwim Disease 19 0.030
570
VRR003 Verruciform Xanthoma of Skin 19 0.030
571
FCC002 Faciocardiorenal Syndrome 19 0.030
572
BND007 Bone Dysplasia Lethal Holmgren Type 19 0.030
573
ACR077 Acro-Oto-Ocular Syndrome 19 0.030
574
HMR016 Humeroradioulnar Synostosis 19 0.030
575
c RBN012 Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 18 0.030
576
ADN025 Adenoameloblastoma 18 0.030
577
DYS134 Dysspondyloenchondromatosis 18 0.030
578
WLL009 Woolly Hair Hypotrichosis Everted Lower Lip and Outstanding Ears 18 0.030
579
c CHR416 Chromosome 17q Deletion 18 0.030
580
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 17 0.030
581
HYP213 Hypomelanotic Disorder 17 0.030
582
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 17 0.030
583
ESS005 Essential Iris Atrophy 17 0.030
584
RDL010 Radial Ray Hypoplasia Choanal Atresia 17 0.030
585
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 16 0.030
586
SVR009 Seaver Cassidy Syndrome 16 0.030
587
GST056 Gastrocutaneous Syndrome 16 0.030
588
INF028 Infundibulocystic Basal Cell Carcinoma 16 0.030
589
14Q002 14q11.2 Microdeletion Syndrome 16 0.030
590
MLG005 Malignant Spindle Cell Melanoma 16 0.030
591
P INT105 Intellectual Disability Multi-Gene Panels 16 0.030
592
RPD005 Rapidly Involuting Congenital Hemangioma 15 0.030
593
CNG248 Congenital Smooth Muscle Hamartoma 15 0.030
594
TRC057 Trichoodontoonychial Dysplasia 15 0.030
595
DFN225 Deafness - Small Bowel Diverticulosis - Neuropathy 15 0.030
596
ECT021 Ectodermal Dysplasia Trichoodontoonychial Type 15 0.030
597
TRC061 Trichostasis Spinulosa 14 0.030
598
ULN013 Ulnar/fibula Ray Defect - Brachydactyly 14 0.030
599
STR073 Sternal Malformation - Vascular Dysplasia 14 0.030
600
CLP004 Clapo Syndrome 14 0.030
601
SKL016 Skeletal Dysplasia Multi-Gene Panels 14 0.030
602
HYP583 Hypo- and Hypermelanotic Cutaneous Macules - Retarded Growth - Intellectual Disability 14 0.030
603
MCH008 Michelin Tire Baby Syndrome 14 0.030
604
ANG027 Angioma Hereditary Neurocutaneous 14 0.030
605
NND005 Non-Distal Trisomy 13q 13 0.030
606
MLG070 Malignant Iris Melanoma 13 0.030
607
BNP002 Bone Epithelioid Hemangioma 13 0.030
608
SGM006 Segmental Odontomaxillary Dysplasia 12 0.030
609
P MLG016 Malignant Conjunctiva Melanoma 11 0.030
610
TRP011 Triopia 11 0.030
611
ART089 Arterial Dissection - Lentiginosis 10 0.030
612
NVS004 Nova Syndrome 10 0.030
613
VNH004 Von Hippel Anomaly 9 0.030
614
MNT028 Mental Retardation Smith Fineman Myers Type 9 0.030
615
PHK008 Phakomatosis Cesioflammea 8 0.030
616
SNS004 Sensory Organ Benign Neoplasm 6 0.030
617
LNR002 Linear Hamartoma Syndrome 2 0.030