Search results for nevus

698 hits were found for nevus

# Family MCID Name MIFTS Score
1
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 46 7.559
2
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 55 7.255
3
GNT020 Giant Congenital Nevus 29 6.202
4
EPD053 Epidermal Nevus, Somatic 48 6.111
5
P WHT013 White Sponge Nevus 1 40 5.925
6
BSL036 Basal Cell Nevus Syndrome 67 5.273
7
DYS002 Dysplastic Nevus Syndrome 33 4.907
8
INF057 Inflammatory Linear Verrucous Epidermal Nevus 23 4.831
9
BCK005 Becker Nevus Syndrome 24 4.621
10
BLR027 Blue Rubber Bleb Nevus 37 4.338
11
NVS016 Nevus Comedonicus, Somatic 25 4.005
12
HYP691 Hypomelanosis of Ito 44 3.350
13
SPT007 Spitz Nevus 34 3.234
14
CLV009 Clove Syndrome, Somatic 32 3.148
15
TCH005 Tièche-Jadassohn Nevus 11 3.101
16
SCL044 Scalp Syndrome 17 3.012
17
c WHT015 White Sponge Nevus 2 15 3.012
18
NVS007 Nevus of Ota 31 2.854
19
PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 15 2.801
20
CNJ017 Conjunctival Nevus 29 2.730
21
CHL071 Child Syndrome 59 2.648
22
PPL044 Papular Elastorrhexis 12 2.628
23
P CPL006 Capillary Hemangioma 50 2.617
24
ALT005 Aloi Tomasini Isaia Syndrome 6 2.592
25
PHC005 Phacomatosis Pigmentokeratotica 12 2.234
26
MLG108 Malignant Melanoma, Somatic 57 2.183
27
VRR005 Verrucous Nevus Acanthokeratolytic 6 2.150
28
ELS005 Elastoma 14 2.122
29
STR005 Stork Bite 13 2.122
30
CNG238 Congenital Panfollicular Nevus 12 1.580
31
ANG056 Angora Hair Nevus 6 1.569
32
CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 30 1.544
33
HLN001 Halo Nevi 25 1.544
34
EPD026 Epidermal Nevus Vitamin D Resistant Rickets 2 1.544
35
CRN096 Craniosynostosis Exostoses Nevus Epibulbar Dermoid 2 1.544
36
NVS005 Nevus Cavernosus 0 1.544
37
NVD003 Nevoid Hypermelanosis, Linear and Whorled 19 1.529
38
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 17 1.529
39
LNR012 Linear Verrucous Nevus Syndrome 15 1.529
40
BSL013 Basaloid Follicular Hamartoma 12 1.529
41
DDY001 Didymosis Aplasticosebacea 7 1.529
42
P WHT008 White Sponge Nevus of Cannon, Krt13-Related 3 1.529
43
c WHT009 White Sponge Nevus of Cannon, Krt4-Related 3 1.529
44
NVS014 Nevus Mucinosis 2 1.529
45
P CRN038 Carney Complex Variant 51 1.511
46
PLM102 Palmoplantar Keratoderma, Epidermolytic 41 1.511
47
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 22 1.511
48
NVD002 Nevada Syndrome 16 1.511
49
NVF002 Nevi Flammei 10 1.511
50
P PSD087 Pseudoxanthoma Elasticum 67 1.488
51
MLN008 Melanoma 70 0.398
52
c BSL007 Basal Cell Carcinoma 64 0.193
53
SYR002 Syringocystadenoma Papilliferum 41 0.160
54
WBR001 Weber Syndrome 36 0.153
55
P HMN010 Hemangioma 59 0.137
56
P RCK004 Rickets 57 0.137
57
P MNN013 Meningitis 65 0.111
58
ADL002 Adult Syndrome 57 0.111
59
MCS002 Mucositis 54 0.111
60
SQM006 Squamous Cell Carcinoma 69 0.108
61
PHC006 Phacomatosis Pigmentovascularis 27 0.108
62
MNG001 Mongolian Spot 25 0.108
63
BRT030 Birth Defects 44 0.104
64
CHR008 Choroiditis 43 0.104
65
KRT009 Keratosis 48 0.100
66
ALR002 Al-Raqad Syndrome 29 0.100
67
P PSR002 Psoriasis 64 0.097
68
P NRF018 Neurofibromatosis, Type 1 78 0.092
69
P EPD002 Epidermolytic Hyperkeratosis 53 0.092
70
MNN001 Meningeal Melanocytoma 41 0.092
71
CRB009 Cerebritis 39 0.092
72
NRF007 Neurofibroma 58 0.088
73
P KRT005 Keratoacanthoma 45 0.088
74
HMM003 Hemimegalencephaly 44 0.088
75
SLT009 Solitary Bone Cyst 25 0.088
76
P CTS012 Cutis Verticis Gyrata 19 0.088
77
AND005 Androgen Insensitivity Syndrome, Mild 16 0.088
78
P APL006 Aplasia Cutis Congenita 48 0.084
79
SKN023 Skin Tag 46 0.084
80
HMH002 Hemihypertrophy 40 0.084
81
NLL002 Null Syndrome 26 0.084
82
RHB003 Rhabdomyosarcoma 58 0.079
83
P HYP613 Hypophosphatemic Rickets 55 0.079
84
c CLL013 Cell Type Cancer 48 0.079
85
P MDL005 Medulloblastoma 73 0.074
86
ART005 Arteriovenous Malformation 63 0.074
87
EPD016 Epidermolysis Bullosa 55 0.074
88
PRT093 Proteus Syndrome, Somatic 55 0.074
89
ALP008 Alopecia 54 0.074
90
HYP077 Hypertrichosis 48 0.074
91
c BSL024 Basal Cell Carcinoma 1 45 0.074
92
CTS011 Cutis Marmorata Telangiectatica Congenita 32 0.074
93
c BSL011 Basal Cell Carcinoma, Multiple 27 0.074
94
c BSL025 Basal Cell Carcinoma 2 19 0.074
95
DRM006 Dermatitis 63 0.068
96
ADN018 Adenoma 58 0.068
97
KDS001 Kid Syndrome 57 0.068
98
P FNC043 Fanconi Anemia, Complementation Group E 51 0.068
99
P LPM005 Lipomatosis 48 0.068
100
P CRV039 Cervicitis 45 0.068
101
ANG016 Angiokeratoma 38 0.068
102
JWC001 Jaw Cancer 37 0.068
103
NRC019 Neurocutaneous Melanosis, Somatic 32 0.068
104
ANG037 Angiomatosis 32 0.068
105
ACN010 Acanthoma 30 0.068
106
SPR033 Superficial Spreading Melanoma 18 0.068
107
SKN019 Skin Melanoma 61 0.062
108
P BCK002 Beckwith-Wiedemann Syndrome 58 0.062
109
WLL006 Wells Syndrome 58 0.062
110
P CTR002 Cataract 57 0.062
111
P SCL018 Scoliosis 56 0.062
112
ACN002 Acanthosis Nigricans 56 0.062
113
MLG077 Malignant Peripheral Nerve Sheath Tumor 55 0.062
114
MGL013 Megalencephaly 53 0.062
115
P ICH004 Ichthyosis 53 0.062
116
P PRC019 Precocious Puberty 50 0.062
117
INT051 Intussusception 48 0.062
118
ALB002 Albinism 45 0.062
119
BHR002 Bohring-Opitz Syndrome 39 0.062
120
c BSL026 Basal Cell Carcinoma 3 20 0.062
121
MYC006 Mycosis Fungoides 67 0.056
122
SRC014 Sarcoma 66 0.056
123
P EPL164 Epilepsy 65 0.056
124
DFC004 Deficiency Anemia 60 0.056
125
P UVL004 Uveal Melanoma 60 0.056
126
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.056
127
OCL009 Ocular Cancer 58 0.056
128
NRN004 Neuroendocrine Tumor 55 0.056
129
P OCL002 Oculocutaneous Albinism 55 0.056
130
LYM022 Lymphangioma 51 0.056
131
IRN001 Iron Deficiency Anemia 51 0.056
132
DSS009 Disseminated Intravascular Coagulation 50 0.056
133
OCL022 Ocular Melanoma 50 0.056
134
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44 0.056
135
c CLR017 Clear Cell Sarcoma 44 0.056
136
c JVN003 Juvenile Xanthogranuloma 44 0.056
137
VSC047 Vascular Malformation 43 0.056
138
c RBN009 Robinow Syndrome, Autosomal Recessive 41 0.056
139
EPS006 Epstein Syndrome 41 0.056
140
HMN016 Hemangioendothelioma 38 0.056
141
P SYR003 Syringoma 38 0.056
142
MLN013 Melanoma Metastasis 38 0.056
143
P CLR001 Clear Cell Acanthoma 36 0.056
144
PRL042 Proliferating Trichilemmal Cyst 33 0.056
145
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.056
146
MLL001 Molluscum Contagiosum 31 0.056
147
RGN005 Regional Odontodysplasia 22 0.056
148
APC003 Apocrine Adenoma 22 0.056
149
CGN001 Cogan-Reese Syndrome 20 0.056
150
ORB015 Orbital Melanoma 20 0.056
151
c BSL028 Basal Cell Carcinoma 5 18 0.056
152
P ADN016 Adenocarcinoma 69 0.048
153
P NNN008 Noonan Syndrome 1 68 0.048
154
THY028 Thyroid Cancer 68 0.048
155
P TBR001 Tuberous Sclerosis 67 0.048
156
P TRN020 Turner Syndrome 65 0.048
157
P CRN037 Craniosynostosis 65 0.048
158
P THR014 Thrombocytopenia 63 0.048
159
P HRM001 Hermansky-Pudlak Syndrome 61 0.048
160
GNG013 Gingivitis 61 0.048
161
P PNC044 Pancreatitis 60 0.048
162
ACN011 Acne 59 0.048
163
P GLM045 Glioma 59 0.048
164
P ORL007 Oral Cavity Cancer 57 0.048
165
P HYP069 Hyperparathyroidism 56 0.048
166
FCL009 Focal Dermal Hypoplasia 56 0.048
167
ORL011 Oral Cancer 56 0.048
168
P PLY006 Polydactyly 54 0.048
169
PPL022 Papilloma 54 0.048
170
LMY002 Leiomyoma 53 0.048
171
P EPD003 Epidermolysis Bullosa Simplex 53 0.048
172
P LCH002 Lichen Planus 52 0.048
173
c CNT075 Central Precocious Puberty 50 0.048
174
CLC006 Calcinosis 49 0.048
175
RTN023 Retinitis 49 0.048
176
P OPN001 Open-Angle Glaucoma 48 0.048
177
CHL069 Cholesteatoma 47 0.048
178
CTN014 Cutaneous Mastocytosis 47 0.048
179
OST011 Osteomalacia 47 0.048
180
AML029 Ameloblastoma 47 0.048
181
PLM017 Pulmonary Alveolar Microlithiasis 46 0.048
182
GDS001 Good Syndrome 46 0.048
183
P PSD015 Pseudohypoparathyroidism 46 0.048
184
FLL008 Folliculitis 45 0.048
185
LCH009 Lichen Sclerosus 44 0.048
186
THR024 Thrombosis 43 0.048
187
BNC003 Bone Cancer 42 0.048
188
ENC010 Encephalocraniocutaneous Lipomatosis 42 0.048
189
NDL001 Nodular Malignant Melanoma 40 0.048
190
NRN002 Neuronitis 39 0.048
191
PLX002 Plexiform Neurofibroma 39 0.048
192
GRM001 Germ Cell and Embryonal Cancer 38 0.048
193
HDR004 Hidradenoma 37 0.048
194
GRN003 Granulomatous Dermatitis 34 0.048
195
OST014 Osteopoikilosis 34 0.048
196
P GRM010 Germ Cells Tumors 34 0.048
197
P INT283 Integumentary System Cancer 30 0.048
198
PGM002 Pigmented Basal Cell Carcinoma 27 0.048
199
c CMP072 Camptodactyly Syndrome, Guadalajara, Type I 22 0.048
200
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16 0.048
201
SHS001 Shashi-Pena Syndrome 14 0.048
202
TRC052 Trichofolliculoma 14 0.048
203
MLR004 Malaria 82 0.039
204
P RTN008 Retinitis Pigmentosa 80 0.039
205
P PLM037 Pulmonary Hypertension 77 0.039
206
c CHR090 Chronic Lymphocytic Leukemia 75 0.039
207
P ART022 Arthritis 72 0.039
208
P LKM002 Leukemia 72 0.039
209
CRZ001 Crouzon Syndrome 70 0.039
210
P CLC005 Celiac Disease 69 0.039
211
CHD001 Chediak-Higashi Syndrome 65 0.039
212
P CWD001 Cowden Disease 65 0.039
213
MCK007 Muckle-Wells Syndrome 63 0.039
214
P INF037 Inflammatory Bowel Disease 62 0.039
215
VSC011 Vasculitis 62 0.039
216
WLL001 Williams-Beuren Syndrome 62 0.039
217
P SHR029 Short Syndrome 61 0.039
218
CNN005 Connective Tissue Disease 61 0.039
219
c LCL006 Localized Scleroderma 60 0.039
220
P HYP086 Hypothyroidism 60 0.039
221
P ALP009 Alopecia Areata 60 0.039
222
c EHL057 Ehlers-Danlos Syndrome, Type Iv 59 0.039
223
P SNS014 Sinusitis 59 0.039
224
P ESP024 Esophagitis 59 0.039
225
WST001 West Syndrome 58 0.039
226
P ESC003 Escobar Syndrome 57 0.039
227
P NRP001 Neuropathy 57 0.039
228
PBL001 Piebaldism 57 0.039
229
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 0.039
230
P PLY018 Polycythemia 56 0.039
231
CHR029 Choroid Plexus Papilloma 56 0.039
232
P XRD010 Xeroderma Pigmentosum, Variant Type 55 0.039
233
JNT002 Joint Disorders 55 0.039
234
CNG008 Congenital Ichthyosiform Erythroderma 55 0.039
235
P INT070 Intestinal Obstruction 55 0.039
236
PSD014 Pseudopseudohypoparathyroidism 55 0.039
237
c TBR024 Tuberous Sclerosis-1 55 0.039
238
P BRC006 Brachydactyly 55 0.039
239
END041 Endometrial Adenocarcinoma 55 0.039
240
P LPR002 Leopard Syndrome 54 0.039
241
P PLY019 Polyneuropathy 54 0.039
242
P SZR006 Seizure Disorder 54 0.039
243
CLB001 Coloboma 54 0.039
244
P THY032 Thyroiditis 53 0.039
245
P HYP076 Hyperthyroidism 53 0.039
246
c HYP615 Hyperparathyroidism, Familial Primary 53 0.039
247
PHR003 Pharyngitis 53 0.039
248
TRN018 Transitional Cell Carcinoma 52 0.039
249
CRS005 Crest Syndrome 52 0.039
250
P ATX004 Ataxia 52 0.039
251
P ENC018 Encephalopathy 52 0.039
252
DMN002 Dementia 52 0.039
253
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 51 0.039
254
NNN026 Noonan Syndrome with Multiple Lentigines 50 0.039
255
EXP004 Exophthalmos 50 0.039
256
MSS002 Mass Syndrome 49 0.039
257
ACR013 Acrodysostosis 49 0.039
258
GNG004 Ganglioglioma 49 0.039
259
ICH054 Ichthyosis, X-Linked 49 0.039
260
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49 0.039
261
GNG002 Ganglioneuroma 48 0.039
262
INC021 Incontinentia Pigmenti 48 0.039
263
BSC001 Buschke-Ollendorff Syndrome 48 0.039
264
P ENC008 Encephalocele 48 0.039
265
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 47 0.039
266
SCH016 Schimke Immunoosseous Dysplasia 47 0.039
267
P ICH001 Ichthyosis Vulgaris 46 0.039
268
HST009 Histiocytoma 46 0.039
269
MYL004 Myelodysplastic Myeloproliferative Cancer 46 0.039
270
MRC002 Marcus Gunn Phenomenon 45 0.039
271
P EPT020 Epithelioid Hemangioendothelioma 45 0.039
272
CYS002 Cystic Lymphangioma 45 0.039
273
MCR018 Microcytic Anemia 44 0.039
274
PGT008 Paget Disease of Bone 5, Juvenile-Onset 43 0.039
275
P ART084 Arteriovenous Fistula 43 0.039
276
ECS001 Eec Syndrome 42 0.039
277
ACR014 Acral Lentiginous Melanoma 42 0.039
278
HYP017 Hypophosphatemia 42 0.039
279
P CNN004 Connective Tissue Cancer 42 0.039
280
VGN023 Vaginitis 41 0.039
281
ARC002 Arachnoiditis 41 0.039
282
P SKN013 Skin Benign Neoplasm 41 0.039
283
ONC003 Oncogenic Osteomalacia 41 0.039
284
PYG006 Pyogenic Granuloma 41 0.039
285
KRT063 Keratocystic Odontogenic Tumor 39 0.039
286
ARC007 Arachnoid Cysts 38 0.039
287
OVR104 Ovarian Melanoma 38 0.039
288
VLV020 Vulvar Melanoma 38 0.039
289
P PRK003 Parkes Weber Syndrome 38 0.039
290
AML001 Amelanotic Melanoma 37 0.039
291
P CRB059 Cerebellar Degeneration 37 0.039
292
PHT003 Phototoxic Dermatitis 37 0.039
293
c RBN018 Robinow Syndrome, Autosomal Dominant 1 36 0.039
294
ACN003 Acneiform Dermatitis 36 0.039
295
c BLD124 Bleeding Disorder, Platelet-Type, 11 36 0.039
296
BLP004 Blepharophimosis 36 0.039
297
BNS002 Bone Structure Disease 36 0.039
298
c MLG059 Malignant Struma Ovarii 35 0.039
299
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 35 0.039
300
P SPR013 Spiradenoma 35 0.039
301
P GLM006 Glomangioma 35 0.039
302
MNN008 Meningeal Melanomatosis 35 0.039
303
ECC004 Eccrine Porocarcinoma 34 0.039
304
VRT001 Vertebral Artery Occlusion 34 0.039
305
SBC009 Sebaceous Adenoma 34 0.039
306
CNT041 Central Nervous System Melanocytic Neoplasm 33 0.039
307
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 33 0.039
308
CBB002 Cobb Syndrome 33 0.039
309
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33 0.039
310
c ALB010 Albinism, Oculocutaneous, Type Ib 32 0.039
311
MLN002 Melanomatosis 32 0.039
312
LYM095 Lymphangiomatosis 32 0.039
313
c MLN050 Melanoma, Cutaneous Malignant, 3 31 0.039
314
MLG007 Malignant Skin Fibrous Histiocytoma 31 0.039
315
GLM012 Glomuvenous Malformations 31 0.039
316
RTC001 Reticulohistiocytic Granuloma 31 0.039
317
FLL019 Follicular Mucinosis 31 0.039
318
SPN354 Spinal Arachnoiditis 31 0.039
319
MLG005 Malignant Spindle Cell Melanoma 30 0.039
320
HMP001 Hemopericardium 29 0.039
321
c MLG063 Malignant Dermis Tumor 29 0.039
322
DST008 Diastematomyelia 27 0.039
323
P ATX010 Ataxia Neuropathy Spectrum 27 0.039
324
ENP001 Enophthalmos 27 0.039
325
MLN005 Melanoacanthoma 27 0.039
326
OPT032 Optic Pathway Glioma 26 0.039
327
c BNG029 Benign Struma Ovarii 26 0.039
328
OCL039 Oculoectodermal Syndrome 25 0.039
329
INF028 Infundibulocystic Basal Cell Carcinoma 25 0.039
330
GLL012 Gallbladder Melanoma 23 0.039
331
CRN197 Coronary Arterial Fistulas 23 0.039
332
CTN010 Cutaneous Ganglioneuroma 23 0.039
333
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 23 0.039
334
MNN010 Meningeal Melanoma 22 0.039
335
ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 22 0.039
336
FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 20 0.039
337
ARM006 Armfield X-Linked Mental Retardation Syndrome 19 0.039
338
ARG004 Argyria 19 0.039
339
DRM023 Dermoodontodysplasia 19 0.039
340
MLL015 Mills Syndrome 18 0.039
341
ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 18 0.039
342
CHR416 Chromosome 17q Deletion 18 0.039
343
SVR009 Seaver Cassidy Syndrome 17 0.039
344
WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 17 0.039
345
c BSL027 Basal Cell Carcinoma 4 16 0.039
346
EPG004 Epignathus 16 0.039
347
GST056 Gastrocutaneous Syndrome 16 0.039
348
TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 15 0.039
349
ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15 0.039
350
HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 12 0.039
351
ORB016 Orbital Varix 12 0.039
352
CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 12 0.039
353
ART129 Arterial Dissection with Lentiginosis 11 0.039
354
PHK006 Phakomatosis Pigmentokeratotica 10 0.039
355
P BRS047 Breast Cancer 100 0.028
356
P CLR023 Colorectal Cancer 95 0.028
357
P PNC035 Pancreatic Cancer 84 0.028
358
P OST012 Osteoarthritis 79 0.028
359
P RTN024 Retinoblastoma 75 0.028
360
c ATM006 Autoimmune Lymphoproliferative Syndrome 72 0.028
361
KRT004 Keratitis 70 0.028
362
P HPT021 Hepatitis 68 0.028
363
CST001 Costello Syndrome 67 0.028
364
LVR012 Liver Cirrhosis 66 0.028
365
P KDN018 Kidney Disease 65 0.028
366
P HLP001 Holoprosencephaly 65 0.028
367
c CHR089 Chronic Kidney Failure 65 0.028
368
SKN016 Skin Disease 64 0.028
369
P LPR003 Leprosy 63 0.028
370
CNG368 Congenital Adrenal Hyperplasia 63 0.028
371
P LPS004 Lupus Erythematosus 63 0.028
372
NRR002 Norrie Disease 62 0.028
373
c HPT001 Hepatitis C 62 0.028
374
MTH009 Mouth Disease 62 0.028
375
c MYT021 Myotonic Dystrophy 1 61 0.028
376
P DYS154 Dystonia 61 0.028
377
P LYM025 Lymphedema 60 0.028
378
DSM004 Desmoid Tumor 60 0.028
379
P NRV006 Nervous System Cancer 59 0.028
380
P THY023 Thymoma 59 0.028
381
P MRT001 Muir-Torre Syndrome 59 0.028
382
P DRM010 Dermatomyositis 59 0.028
383
P GST049 Gastrointestinal System Cancer 59 0.028
384
MSM014 Mismatch Repair Cancer Syndrome 59 0.028
385
P CLR108 Colorectal Adenoma 59 0.028
386
CTS003 Coats Disease 58 0.028
387
EXF001 Exfoliation Syndrome 57 0.028
388
LNN001 Lennox-Gastaut Syndrome 57 0.028
389
c MYT020 Myotonic Dystrophy 2 57 0.028
390
P HRD004 Hereditary Breast Ovarian Cancer 56 0.028
391
PLL001 Pallister-Hall Syndrome 56 0.028
392
P MYS005 Myositis 56 0.028
393
KLP010 Klippel-Trenaunay-Weber Syndrome 55 0.028
394
NRM005 Neuromuscular Disease 55 0.028
395
P SPN301 Spinocerebellar Ataxia 2 55 0.028
396
c PND001 Pain Disorder 55 0.028
397
P THY102 Thyroid Cancer, Nonmedullary, 2 55 0.028
398
P PRG013 Paraganglioma 54 0.028
399
ERD001 Erdheim-Chester Disease 54 0.028
400
P LMY004 Leiomyosarcoma 54 0.028
401
RTN017 Retinal Detachment 54 0.028
402
P PNL012 Penile Cancer 54 0.028
403
P TRC072 Treacher Collins Syndrome 1 54 0.028
404
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 53 0.028
405
HLY001 Hailey-Hailey Disease 53 0.028
406
BLD087 Bladder Cancer, Somatic 53 0.028
407
HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53 0.028
408
P CLR070 Colorectal Cancer, Hereditary Nonpolyposis, Type 1 53 0.028
409
CSY001 C Syndrome 53 0.028
410
RCT018 Rectal Neoplasm 53 0.028
411
c HRM005 Hermansky-Pudlak Syndrome 1 52 0.028
412
KLD001 Keloids 52 0.028
413
c PSD066 Pseudohypoparathyroidism, Type Ib 52 0.028
414
ABL002 Ablepharon-Macrostomia Syndrome 52 0.028
415
P HYP024 Hypoparathyroidism 52 0.028
416
APP015 Apparent Mineralocorticoid Excess 52 0.028
417
CHR619 Chromosome 2q35 Duplication Syndrome 52 0.028
418
P RNL028 Renal Tubular Dysgenesis 52 0.028
419
IMP002 Imperforate Anus 52 0.028
420
EPD001 Epidermodysplasia Verruciformis 52 0.028
421
c CWD006 Cowden Syndrome 1 51 0.028
422
OPT037 Optic Nerve Hypoplasia 51 0.028
423
c FML053 Familial Colorectal Cancer 51 0.028
424
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.028
425
ACT008 Actinic Keratosis 51 0.028
426
P TRT010 Teratoma 51 0.028
427
P SML016 Small Intestine Cancer 51 0.028
428
END035 Endocrine Gland Cancer 50 0.028
429
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 50 0.028
430
ESP020 Esophageal Atresia 50 0.028
431
PYD001 Pyoderma Gangrenosum 50 0.028
432
VND002 Van Der Woude Syndrome 50 0.028
433
URB001 Urbach-Wiethe Disease 50 0.028
434
ADN009 Adenosquamous Carcinoma 50 0.028
435
c ADL023 Adult Medulloblastoma 49 0.028
436
P PLN008 Peeling Skin Syndrome 49 0.028
437
CLR109 Colorectal Adenocarcinoma 49 0.028
438
PRM028 Paramyotonia Congenita 49 0.028
439
MLB001 Mulibrey Nanism 49 0.028
440
GLM004 Gliomatosis Cerebri 49 0.028
441
PRT029 Parathyroid Adenoma 49 0.028
442
c HYP293 Hypophosphatasia, Adult 48 0.028
443
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 48 0.028
444
BCL002 B Cell Deficiency 48 0.028
445
PRP021 Peripheral Nervous System Neoplasm 48 0.028
446
URM002 Uremia 48 0.028
447
P PRN026 Porencephaly 48 0.028
448
P MYT002 Myotonic Dystrophy 48 0.028
449
PYD002 Pyoderma 47 0.028
450
P FNC044 Fanconi Anemia, Complementation Group C 47 0.028
451
P HYP366 Hyperkalemic Periodic Paralysis, Type 2 47 0.028
452
NNT012 Neonatal Jaundice 47 0.028
453
PRT030 Parathyroid Gland Disease 47 0.028
454
MCP006 Mucoepidermoid Carcinoma 47 0.028
455
c HYP726 Hypercalcemia, Infantile, 1 47 0.028
456
MCL002 Macular Corneal Dystrophy 47 0.028
457
c BRC078 Brachydactyly, Type A1 47 0.028
458
P PRK001 Porokeratosis 47 0.028
459
P CTN003 Cutaneous Lupus Erythematosus 47 0.028
460
c TYR013 Tyrosinemia, Type Ii 47 0.028
461
CHL018 Childhood Medulloblastoma 46 0.028
462
SPN020 Spondylosis 46 0.028
463
GSG001 Gas Gangrene 46 0.028
464
P HMR005 Hemorrhoid 46 0.028
465
HYP135 Hypophosphatemic Rickets with Hypercalciuria 46 0.028
466
HYP025 Hyperphosphatemia 46 0.028
467
MMM001 Mammary Paget's Disease 46 0.028
468
DYS022 Dyschromatosis Symmetrica Hereditaria 46 0.028
469
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 46 0.028
470
c BRD044 Bardet-Biedl Syndrome 17 45 0.028
471
VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 45 0.028
472
MSM001 Meesmann Corneal Dystrophy 45 0.028
473
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.028
474
RNL011 Renal Osteodystrophy 44 0.028
475
SNS023 Sensory System Cancer 44 0.028
476
FBR009 Fibrous Dysplasia 44 0.028
477
MLT152 Multiple Self-Healing Squamous Epithelioma 44 0.028
478
P MYT023 Myotonia Congenita 44 0.028
479
SKN027 Skin Conditions 44 0.028
480
AST006 Astigmatism 43 0.028
481
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43 0.028
482
INF039 Infratentorial Cancer 43 0.028
483
CRN024 Corneal Disease 43 0.028
484
INT253 Intestinal Benign Neoplasm 43 0.028
485
LNG011 Lung Adenoid Cystic Carcinoma 43 0.028
486
OCL001 Ocular Albinism 43 0.028
487
c PRM023 Pre-Malignant Neoplasm 43 0.028
488
TRN003 Transverse Colon Cancer 43 0.028
489
AND001 Anodontia 42 0.028
490
BMF001 Bamforth-Lazarus Syndrome 42 0.028
491
KHL003 Kohlschutter-Tonz Syndrome 42 0.028
492
CNN011 Cenani-Lenz Syndactyly Syndrome 42 0.028
493
DRM011 Dermatophytosis 42 0.028
494
IDP073 Idiopathic Hypercalciuria 42 0.028
495
SPN021 Spinal Meningioma 42 0.028
496
CRB138 Core Binding Factor Acute Myeloid Leukemia 42 0.028
497
END072 Endotheliitis 41 0.028
498
CRN025 Corneal Dystrophy 41 0.028
499
CRT015 Carotid Artery Occlusion 41 0.028
500
c HRD169 Hereditary Colorectal Cancer 41 0.028
501
P HYP009 Hypertrophic Pyloric Stenosis 41 0.028
502
FML036 Familial Periodic Paralysis 41 0.028
503
FBR054 Fibroma 41 0.028
504
LCH011 Lichen Planopilaris 41 0.028
505
c DWL002 Dowling-Degos Disease 1 41 0.028
506
ANL022 Anal Fistula 40 0.028
507
ATS008 Autosomal Dominant Disease 40 0.028
508
SBC011 Sebaceous Adenocarcinoma 40 0.028
509
ADN010 Adenosquamous Cell Lung Carcinoma 40 0.028
510
PHS001 Phosphorus Metabolism Disease 40 0.028
511
ACT058 Active Peptic Ulcer Disease 40 0.028
512
c HLP029 Holoprosencephaly 4 40 0.028
513
MNR003 Mineral Metabolism Disease 40 0.028
514
c BNG023 Benign Familial Infantile Epilepsy 40 0.028
515
MYT011 Myotonia 40 0.028
516
c PRM022 Primary Syphilis 40 0.028
517
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 40 0.028
518
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39 0.028
519
MCR103 Microtia 39 0.028
520
LVR002 Liver Angiosarcoma 39 0.028
521
c VTM007 Vitamin D-Dependent Rickets Type Ii 39 0.028
522
LCH001 Leech Infestation 39 0.028
523
MYF001 Myofibroma 39 0.028
524
c SCN006 Secondary Syphilis 39 0.028
525
KRT036 Keratosis, Seborrheic, Somatic 39 0.028
526
OST004 Osteitis Fibrosa 39 0.028
527
P CNG024 Congenital Nystagmus 39 0.028
528
BND014 Bone Development Disease 39 0.028
529
BZX001 Bazex Syndrome 38 0.028
530
CCM001 Cecum Adenocarcinoma 38 0.028
531
PLL008 Pallister-Killian Syndrome 38 0.028
532
RCK007 Rickets, Vitamin D-Resistant, Type Iia 38 0.028
533
BNR001 Bone Remodeling Disease 38 0.028
534
ADJ001 Adjustment Disorder 38 0.028
535
ATS009 Autosomal Genetic Disease 38 0.028
536
LYM127 Lymphatic Malformations 38 0.028
537
CND005 Cone Dystrophy 38 0.028
538
LKP003 Leukoplakia 38 0.028
539
P CYS017 Cystic Teratoma 38 0.028
540
P HYP057 Hypervitaminosis D 38 0.028
541
CTN012 Cutaneous Leiomyosarcoma 37 0.028
542
GLC086 Glucocorticoid-Induced Osteoporosis 37 0.028
543
MLR003 Melorheostosis 37 0.028
544
CHN008 Chandler Syndrome 37 0.028
545
MSC004 Muscle Tissue Disease 37 0.028
546
FXF002 Fox-Fordyce Disease 37 0.028
547
CPP003 Cap Polyposis 37 0.028
548
RTC008 Reticulate Acropigmentation of Kitamura 37 0.028
549
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 37 0.028
550
c CNG033 Congenital Syphilis 37 0.028
551
SML028 Semilobar Holoprosencephaly 36 0.028
552
IMP003 Impaired Renal Function Disease 36 0.028
553
ADN002 Adenoiditis 36 0.028
554
P MLN043 Melanoma, Cutaneous Malignant 8 36 0.028
555
NDL005 Nodular Medulloblastoma 36 0.028
556
P XRD027 Xeroderma Pigmentosum Group E 36 0.028
557
CRT045 Creatine Phosphokinase, Elevated Serum 36 0.028
558
ETH001 Ethmoid Sinus Adenocarcinoma 36 0.028
559
P PRN022 Perineurioma 36 0.028
560
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 36 0.028
561
PRS063 Paresthesia 36 0.028
562
ISC005 Ischemic Bone Disease 35 0.028
563
P WLL010 Woolly Hair Syndrome 35 0.028
564
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 35 0.028
565
ETH008 Ethmoid Sinus Cancer 35 0.028
566
ACT011 Acute Contagious Conjunctivitis 35 0.028
567
CHN004 Chondroblastoma 35 0.028
568
PRR013 Prurigo Nodularis 34 0.028
569
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 34 0.028
570
ECT004 Ecthyma 34 0.028
571
c RTS003 Ritscher-Schinzel Syndrome 1 34 0.028
572
c SBC035 Subacute Cutaneous Lupus Erythematosus 34 0.028
573
ALB014 Alobar Holoprosencephaly 34 0.028
574
APP013 Appendix Carcinoid Tumor 34 0.028
575
LNT002 Lentigo Maligna Melanoma 34 0.028
576
SPN221 Spina Bifida Occulta 34 0.028
577
P ANX007 Anauxetic Dysplasia 1 34 0.028
578
LBR025 Lobar Holoprosencephaly 34 0.028
579
LWR001 Lower Lip Cancer 34 0.028
580
DNC004 Diencephalic Syndrome 34 0.028
581
CRN247 Corneal Dystrophy, Thiel-Behnke Type 33 0.028
582
PRR004 Preretinal Fibrosis 33 0.028
583
CHL010 Childhood Kidney Cell Carcinoma 33 0.028
584
PNC046 Pancreatic Cancer/melanoma Syndrome 33 0.028
585
ANG017 Angiolipoma 33 0.028
586
ADN006 Adenosquamous Colon Carcinoma 33 0.028
587
IND004 Indeterminate Leprosy 33 0.028
588
DRM003 Dermatosis Papulosa Nigra 32 0.028
589
CRN106 Corneal Dystrophy, Gelatinous Drop-Like 32 0.028
590
c HYP606 Hypokalemic Periodic Paralysis, Type 2 32 0.028
591
P DYS023 Dyschromatosis Universalis Hereditaria 32 0.028
592
HRD005 Hard Palate Cancer 32 0.028
593
c HRD086 Hereditary Hypophosphatemic Rickets 32 0.028
594
c MLN032 Melanoma, Cutaneous Malignant, 2 32 0.028
595
c CRN243 Carney Complex, Type 1 32 0.028
596
MYT003 Myotonic Disease 32 0.028
597
CRN237 Corneal Dystrophy, Avellino Type 32 0.028
598
EPT025 Epithelial Basement Membrane Dystrophy 32 0.028
599
MCR173 Microform Holoprosencephaly 31 0.028
600
P CRN282 Corneal Endothelial Dystrophy, Autosomal Recessive 31 0.028
601
ASY002 Asymptomatic Neurosyphilis 31 0.028
602
WSM002 Waisman Syndrome 31 0.028
603
VTM003 Vitamin Metabolic Disorder 31 0.028
604
P UNC001 Uncombable Hair Syndrome 30 0.028
605
SCL014 Scleral Staphyloma 30 0.028
606
SCN001 Secondary Hyperparathyroidism of Renal Origin 30 0.028
607
PTY002 Pityriasis Versicolor 30 0.028
608
AGG003 Aggressive Digital Papillary Adenocarcinoma 30 0.028
609
CRN022 Corneal Degeneration 30 0.028
610
TCK004 Tick Infestation 30 0.028
611
ELS002 Elastosis Perforans Serpiginosa 30 0.028
612
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29 0.028
613
FCL003 Facial Hemiatrophy 29 0.028
614
ANH001 Ainhum 29 0.028
615
c CNT068 Central Pain Syndrome 29 0.028
616
c PSR019 Psoriasis Susceptibility 13 29 0.028
617
SPT016 Septopreoptic Holoprosencephaly 29 0.028
618
ATY009 Atypical Polypoid Adenomyoma 28 0.028
619
TBS001 Tabes Dorsalis 28 0.028
620
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 28 0.028
621
AMY098 Amyotrophy, Monomelic 28 0.028
622
c BRC047 Bruck Syndrome 1 28 0.028
623
CLC010 Calcifying Epithelial Odontogenic Tumor 28 0.028
624
AXL003 Axial Osteomalacia 28 0.028
625
GST059 Gestational Trophoblastic Tumor 28 0.028
626
IMM025 Immunoglobulin a Deficiency 2 28 0.028
627
NPP006 Nipples, Supernumerary 27 0.028
628
ACR066 Acrodysostosis 1, with or Without Hormone Resistance 27 0.028
629
STR086 Stromal Dystrophy 27 0.028
630
TRT003 Tertiary Syphilis 27 0.028
631
HMN031 Human Venous Malformation 27 0.028
632
P PRT063 Proteus-Like Syndrome 27 0.028
633
LTN001 Latent Syphilis 27 0.028
634
c CRN209 Cornelia De Lange Syndrome 5 27 0.028
635
MRR014 Mirror Movements 1 and/or Agenesis of the Corpus Callosum 27 0.028
636
TRT002 Tertiary Neurosyphilis 26 0.028
637
BDN002 Bednar Tumor 26 0.028
638
c MLN049 Melanoma, Cutaneous Malignant, 9 26 0.028
639
c PLN025 Peeling Skin Syndrome 5 25 0.028
640
c MLN052 Melanoma, Cutaneous Malignant, 5 25 0.028
641
CHF001 Chief Cell Adenoma 25 0.028
642
NDL010 Nodular Hidradenoma 25 0.028
643
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.028
644
PRM243 Primary Bone Cancer 25 0.028
645
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 25 0.028
646
PSR005 Psoriasis, Protection Against 24 0.028
647
c MLN051 Melanoma, Cutaneous Malignant, 6 24 0.028
648
HDR001 Hidrocystoma 24 0.028
649
TRN066 Transmitted_by 24 0.028
650
OCC011 Occipital Encephalocele 23 0.028
651
PHK008 Phakomatosis Cesioflammea 23 0.028
652
ANG062 Angioosteohypertrophic Syndrome 23 0.028
653
EXT012 Extraskeletal Chondroma 22 0.028
654
LMY001 Leiomyoma Cutis 22 0.028
655
CRN010 Corneal Granular Dystrophy 22 0.028
656
c MLN055 Melanoma, Cutaneous Malignant 10 21 0.028
657
VSC009 Vascular Skin Disease 20 0.028
658
DFF013 Diffuse Meningeal Melanocytosis 20 0.028
659
TNN001 Tinea Nigra 20 0.028
660
HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 20 0.028
661
EPD004 Epidermolytic Acanthoma 20 0.028
662
c LTC001 Late Congenital Syphilis 19 0.028
663
PRM087 Premature Chromatid Separation Trait 19 0.028
664
FCC002 Faciocardiorenal Syndrome 19 0.028
665
DYS096 Dyskeratosis, Hereditary Benign Intraepithelial 19 0.028
666
VRR003 Verruciform Xanthoma of Skin 19 0.028
667
CNJ004 Conjunctival Pigmentation 19 0.028
668
ESS005 Essential Iris Atrophy 19 0.028
669
CRN083 Craniofacial Dyssynostosis 18 0.028
670
WSC001 Wisconsin Syndrome 18 0.028
671
TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 18 0.028
672
c BSL029 Basal Cell Carcinoma 6 18 0.028
673
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 18 0.028
674
HTR005 Heterochromia Iridis 18 0.028
675
SNS004 Sensory Organ Benign Neoplasm 18 0.028
676
CRN266 Craniofacial Dyssynostosis with Short Stature 17 0.028
677
RPD005 Rapidly Involuting Congenital Hemangioma 16 0.028
678
c FML303 Familial/multiple Cancer 16 0.028
679
CLL041 Collagenoma, Familial Cutaneous 16 0.028
680
CRB053 Cerebellar Agenesis 16 0.028
681
ATX021 Ataxia - Hypogonadism - Choroidal Dystrophy 15 0.028
682
NVS004 Nova Syndrome 15 0.028
683
ACT226 Actg2 15 0.028
684
GRW027 Growth Restriction, Severe, with Distinctive Facies 14 0.028
685
RTN010 Retinal Melanoma 14 0.028
686
CNG248 Congenital Smooth Muscle Hamartoma 13 0.028
687
c CMP021 Camptodactyly Syndrome Guadalajara Type 3 13 0.028
688
EPT024 Epithelial-Stromal Tgfbi Dystrophy 13 0.028
689
TRC061 Trichostasis Spinulosa 13 0.028
690
EPT023 Epithelial and Subepithelial Dystrophy 13 0.028
691
BRS103 Bier Spots 12 0.028
692
CRM002 Ceruminoma 12 0.028
693
MVD004 Moved to 259450 11 0.028
694
PLR003 Pilar Sheath Acanthoma 11 0.028
695
SGM006 Segmental Odontomaxillary Dysplasia 10 0.028
696
LPD038 Lipedematous Scalp 9 0.028
697
EPL008 Epilepsy Occipital Calcifications 8 0.028
698
LNR002 Linear Hamartoma Syndrome 3 0.028
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