Search results for "border disease"

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

453 hits were found for 'border disease'

# Family MCID Name MIFTS Score
1
MCR094 Microvillus Inclusion Disease 51 4.687
2
P HRT032 Heart Disease 76 0.110
3
NRN002 Neuronitis 42 0.107
4
P HPT021 Hepatitis 70 0.101
5
MLR004 Malaria 79 0.094
6
LNG099 Lung Disease 62 0.091
7
P BRS047 Breast Cancer 100 0.086
8
TBR010 Tuberculosis 69 0.078
9
DDN006 Duodenitis 44 0.074
10
END072 Endotheliitis 42 0.068
11
TNG003 Tongue Cancer 60 0.068
12
P NRN021 Neuronal Ceroid Lipofuscinosis 58 0.067
13
P CLC005 Celiac Disease 67 0.067
14
RTN023 Retinitis 49 0.066
15
P THY032 Thyroiditis 54 0.066
16
RSP006 Respiratory System Disease 62 0.064
17
P MYP004 Myopathy 67 0.064
18
c VRL010 Viral Hepatitis 61 0.063
19
P DRR001 Diarrhea 51 0.063
20
c EHL057 Ehlers-Danlos Syndrome, Type Iv 60 0.062
21
P MYC007 Myocardial Infarction 79 0.062
22
CYS001 Cystic Fibrosis 86 0.061
23
PCK002 Pick Disease 67 0.061
24
BRN028 Brain Cancer 70 0.060
25
SKN016 Skin Disease 68 0.060
26
P HMR012 Hemorrhagic Fever 55 0.059
27
P LYM118 Lymphoma 70 0.059
28
ANR040 Aneurysm 57 0.058
29
P PNM007 Pneumonia 66 0.058
30
P PNC044 Pancreatitis 60 0.058
31
CRB009 Cerebritis 38 0.058
32
c HMP029 Hemophilia a 64 0.058
33
c INF067 Inflammatory Bowel Disease 10 51 0.056
34
MTR014 Motor Neuron Disease 59 0.055
35
PLS006 Plasmodium Vivax Malaria 53 0.055
36
P CRV039 Cervicitis 44 0.055
37
P LPS004 Lupus Erythematosus 63 0.054
38
CHL056 Cheilitis 45 0.054
39
P NRV006 Nervous System Cancer 62 0.054
40
TTR001 Tetralogy of Fallot 71 0.052
41
NRR002 Norrie Disease 61 0.052
42
P ADN016 Adenocarcinoma 69 0.052
43
P LPC002 Lip Cancer 53 0.051
44
ISC004 Ischemia 59 0.051
45
CYS013 Cystinuria 63 0.050
46
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.050
47
WLL006 Wells Syndrome 56 0.050
48
P NRP001 Neuropathy 60 0.049
49
ADN018 Adenoma 59 0.049
50
P CLR023 Colorectal Cancer 97 0.049
51
CSY001 C Syndrome 49 0.049
52
P ENC004 Encephalitis 61 0.049
53
P GLM045 Glioma 58 0.049
54
DNG002 Dengue Hemorrhagic Fever 62 0.049
55
P ALC004 Alcohol Abuse 60 0.049
56
PLS007 Plasmodium Falciparum Malaria 54 0.048
57
c MCP009 Mucopolysaccharidosis Ii 62 0.048
58
P LPR003 Leprosy 68 0.048
59
ADM013 Adamantinoma of Long Bones 59 0.048
60
BRC012 Brucellosis 65 0.047
61
P CRN074 Coronary Artery Aneurysm 44 0.046
62
HYP006 Hypertensive Heart Disease 50 0.046
63
INS024 Insulin-Like Growth Factor I 74 0.046
64
c HPT001 Hepatitis C 68 0.045
65
FLT006 Floating-Harbor Syndrome 41 0.045
66
BLN006 Blind Loop Syndrome 30 0.045
67
BRN106 Burns 52 0.045
68
MRG013 Mirage Syndrome 26 0.045
69
c MCP012 Mucopolysaccharidosis Ih 42 0.045
70
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 41 0.045
71
TST021 Testicular Germ Cell Tumor 70 0.044
72
VND001 Vein Disease 52 0.044
73
NLP001 Nail-Patella Syndrome 54 0.044
74
GMZ002 Gomez-Lopez-Hernandez Syndrome 23 0.044
75
ALP035 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 22 0.044
76
P MDL005 Medulloblastoma 77 0.044
77
P CRN139 Cornelia De Lange Syndrome 1 60 0.044
78
CRT015 Carotid Artery Occlusion 43 0.044
79
CHR219 Chromosome 19q13.11 Deletion Syndrome 24 0.043
80
HV1006 Hiv-1 82 0.043
81
PRM097 Primary Immunodeficiency Disease 61 0.043
82
P LCH002 Lichen Planus 53 0.043
83
3PS001 3p- Syndrome 38 0.043
84
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 14 0.043
85
DSS008 Disease of Mental Health 55 0.043
86
BBS001 Babesiosis 45 0.043
87
HTC002 Hutchinson-Gilford Progeria 62 0.043
88
MLT021 Multiple System Atrophy 71 0.042
89
NRL016 Neural Tube Defects 76 0.042
90
P INF038 Influenza 74 0.042
91
P GLM007 Glomerulonephritis 56 0.042
92
EWN003 Ewing Sarcoma 64 0.042
93
AMB001 Amebiasis 42 0.042
94
PLM102 Palmoplantar Keratoderma, Epidermolytic 48 0.042
95
SCR008 Scrub Typhus 54 0.042
96
WST005 West Nile Virus 53 0.042
97
c BSL007 Basal Cell Carcinoma 64 0.042
98
ABL002 Ablepharon-Macrostomia Syndrome 57 0.041
99
c HPT073 Hepatitis C Virus 72 0.041
100
RBS001 Rabies 56 0.041
101
P RTT002 Rett Syndrome 78 0.041
102
LKC003 Leukocyte Disease 47 0.041
103
ONC002 Onchocerciasis 50 0.041
104
OST016 Osteochondrosis 50 0.041
105
STR008 Strongyloidiasis 50 0.041
106
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 58 0.041
107
MYL009 Myelodysplastic Syndrome 74 0.041
108
GRM001 Germ Cell and Embryonal Cancer 39 0.041
109
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.040
110
c INF089 Inflammatory Bowel Disease 6 20 0.040
111
P AST007 Astrocytoma 65 0.040
112
MDD011 Mood Disorder 61 0.040
113
P CTR002 Cataract 57 0.040
114
ANK001 Ankylosis 52 0.040
115
PRM025 Primary Bacterial Infectious Disease 43 0.040
116
GLM004 Gliomatosis Cerebri 53 0.040
117
c HPT003 Hepatitis a 59 0.040
118
GDS001 Good Syndrome 45 0.039
119
GNG013 Gingivitis 60 0.039
120
CMP005 Campomelic Dysplasia 72 0.039
121
ELL001 Ellis-Van Creveld Syndrome 57 0.039
122
P GNT008 Giant Cell Tumor 49 0.039
123
P SCH015 Schizophrenia 76 0.039
124
P RNL014 Renal Cell Carcinoma 81 0.039
125
TNS007 Taeniasis 42 0.039
126
P EPL164 Epilepsy 66 0.039
127
GLB015 Glioblastoma Multiforme 62 0.039
128
PST028 Post-Traumatic Stress Disorder 57 0.039
129
c MLG079 Malignant Pleural Mesothelioma 50 0.039
130
SPN331 Spondyloocular Syndrome 27 0.039
131
ULC005 Ulcer of Lower Limbs 22 0.039
132
CRN030 Coronary Stenosis 50 0.039
133
P GLB002 Glioblastoma 66 0.039
134
HYP017 Hypophosphatemia 42 0.039
135
CLN015 Colon Adenocarcinoma 49 0.038
136
c TRC092 Trichorhinophalangeal Syndrome, Type I 45 0.038
137
CRV045 Cervical Intraepithelial Neoplasia 38 0.038
138
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 60 0.038
139
P PRK060 Porokeratosis 3, Disseminated Superficial Actinic 22 0.038
140
SKN027 Skin Conditions 45 0.038
141
CRB002 Cerebral Primitive Neuroectodermal Tumor 45 0.038
142
NSD001 Nose Disease 52 0.038
143
P CHR345 Chronic Pain 49 0.038
144
GLC022 Glucose/galactose Malabsorption 38 0.038
145
LGG001 Legg-Calve-Perthes Disease 57 0.038
146
P SLV001 Silver-Russell Syndrome 54 0.038
147
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 32 0.038
148
BRN032 Brain Glioma 48 0.038
149
PST007 Post-Vaccinal Encephalitis 28 0.038
150
PYR016 Pyridoxine Deficiency 36 0.037
151
LWS003 Lowe Syndrome 61 0.037
152
MNT002 Mental Depression 54 0.037
153
c LRS002 Larsen-Like Syndrome 36 0.037
154
YNS002 Yunis-Varon Syndrome 32 0.037
155
c PRK075 Porokeratosis 7, Multiple Types 14 0.037
156
LG4001 Lig4 Syndrome 52 0.037
157
TNC003 Tinea Corporis 38 0.037
158
P HMP007 Hemophilia 56 0.037
159
WDS002 Woods Syndrome 30 0.037
160
ANX002 Anxiety Disorder 69 0.037
161
P HRP006 Herpes Simplex 65 0.037
162
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32 0.037
163
CRN049 Craniolenticulosutural Dysplasia 21 0.037
164
c PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 13 0.037
165
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 26 0.036
166
P OVR042 Ovarian Cancer 75 0.036
167
EXS001 Exostosis 44 0.036
168
CHR543 Chromosome 2q37 Deletion Syndrome 29 0.036
169
P EXN002 Exanthem 57 0.036
170
GLS018 Glass Syndrome 35 0.036
171
P EPL003 Epulis 33 0.036
172
RVL002 Ruvalcaba Syndrome 31 0.036
173
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 16 0.036
174
P END033 Endocarditis 52 0.036
175
P INF032 Infertility 61 0.036
176
CHR413 Chronic Myocardial Ischemia 40 0.036
177
SHP004 Shprintzen Omphalocele Syndrome 15 0.036
178
HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 15 0.036
179
HRS002 Hersh Podruch Weisskopk Syndrome 15 0.036
180
c MCP036 Mucopolysaccharidosis Ih/s 35 0.036
181
AYM001 Ayme-Gripp Syndrome 45 0.036
182
VLP001 Valproate Embryopathy, Susceptibility to 34 0.036
183
12Q002 12q14 Microdeletion Syndrome 24 0.036
184
c RNG005 Ring Chromosome 10 21 0.036
185
HYP682 Hypertelorism, Teebi Type 19 0.036
186
EDN001 Edinburgh Malformation Syndrome 19 0.036
187
MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 17 0.036
188
CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 13 0.036
189
CHR159 Charlie M Syndrome 12 0.036
190
LYM021 Lymphadenitis 58 0.036
191
P RCK004 Rickets 59 0.036
192
RCM003 Recombinant Chromosome 8 Syndrome 21 0.035
193
CHR229 Chromosome 20p Duplication 18 0.035
194
1Q4001 1q44 Microdeletion Syndrome 13 0.035
195
19P001 19p13.12 Microdeletion Syndrome 13 0.035
196
GST053 Gastric Cancer 77 0.035
197
ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 38 0.035
198
GST023 Gastric Ulcer 55 0.035
199
P NRB001 Neuroblastoma 69 0.035
200
CHR399 Chromosome 4q21 Deletion Syndrome 22 0.035
201
MSM018 Mesomelic Limb Shortening and Bowing 15 0.035
202
ILL003 Illum Syndrome 15 0.035
203
VNR001 Van Regemorter Pierquin Vamos Syndrome 10 0.035
204
c MNT221 Mental Retardation, Autosomal Recessive 44 16 0.035
205
c CNG192 Congenital Disorder of Glycosylation, Type Ik 24 0.035
206
SCH014 Schistosomiasis 58 0.035
207
BRN080 Brain Ischemia 41 0.035
208
TTR014 Tetrasomy 18p 22 0.035
209
MYP111 Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 16 0.035
210
2Q3005 2q31.1 Microdeletion Syndrome 16 0.035
211
DST045 Distal Trisomy 6p 13 0.035
212
PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 12 0.035
213
NND005 Non-Distal Trisomy 13q 12 0.035
214
ETN001 Eating Disorder 60 0.035
215
SPC005 Speech Disorder 43 0.034
216
c MCP037 Mucopolysaccharidosis is 66 0.034
217
P CND004 Candidiasis 57 0.034
218
SPT005 Spotted Fever 56 0.034
219
P APL001 Aplastic Anemia 73 0.034
220
PRS036 Parasitic Protozoa Infectious Disease 45 0.034
221
ADR038 Adermatoglyphia 48 0.034
222
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 44 0.034
223
SXD001 Sex Differentiation Disease 40 0.033
224
c MNT209 Mental Retardation, Autosomal Dominant, 27 20 0.033
225
SNG003 Single Ventricular Heart 24 0.033
226
THR100 Thrombocytopenic Purpura, Autoimmune 53 0.033
227
P INT063 Intellectual Disability 53 0.033
228
PLC008 Placenta Disease 36 0.033
229
WST001 West Syndrome 61 0.033
230
QFV001 Q Fever 60 0.033
231
MLG108 Malignant Melanoma, Somatic 67 0.033
232
TXC005 Toxic Shock Syndrome 61 0.033
233
FLR002 Filariasis 55 0.033
234
NCL006 Nicolaides-Baraitser Syndrome 39 0.033
235
P CRB059 Cerebellar Degeneration 32 0.033
236
BNF002 Bone Fracture 47 0.032
237
SPL004 Splenic Marginal Zone Lymphoma 43 0.032
238
ACR003 Acrodermatitis Enteropathica 48 0.032
239
P CTN003 Cutaneous Lupus Erythematosus 50 0.032
240
INF034 Infective Endocarditis 50 0.032
241
c MTR002 Mitral Valve Insufficiency 44 0.032
242
PBL001 Piebaldism 57 0.032
243
HYP622 Hypertrichotic Osteochondrodysplasia 38 0.032
244
DDN007 Duodenal Disease 34 0.032
245
HMR004 Hemorrhagic Fever with Renal Syndrome 57 0.032
246
ASP002 Aspartylglucosaminuria 59 0.032
247
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.032
248
c CNG389 Congenital Disorder of Glycosylation, Type Iim 26 0.032
249
ACR005 Acrodermatitis 34 0.032
250
P LYM007 Lymphangioleiomyomatosis 65 0.032
251
SPN186 Spinal Cord Injury 62 0.032
252
ART002 Arts Syndrome 53 0.032
253
TYP007 Typhoid Fever 61 0.031
254
ISC005 Ischemic Bone Disease 38 0.031
255
c OST123 Osteogenesis Imperfecta, Type Xiii 25 0.031
256
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.031
257
SBS003 Substance Abuse 56 0.031
258
BCT015 Bacteremia 48 0.031
259
PPL046 Popliteal Pterygium Syndrome 1 47 0.031
260
FSC004 Fasciitis 46 0.031
261
P HYP098 Hypereosinophilic Syndrome 51 0.031
262
P SCH017 Schindler Disease 31 0.031
263
TLR001 Tularemia 42 0.031
264
JVN022 Juvenile Batten Disease 22 0.031
265
HRT031 Hartnup Disorder 44 0.031
266
CLL003 Cellulitis 49 0.031
267
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 27 0.031
268
KNZ001 Kanzaki Disease 37 0.031
269
P NRX001 Neuroaxonal Dystrophy 39 0.031
270
c INF002 Inflammatory Diarrhea 31 0.031
271
MLY006 Molybdenum Cofactor Deficiency a 30 0.031
272
ISC002 Ischemic Optic Neuropathy 46 0.031
273
P MYP006 Myopia 59 0.031
274
LPR001 Lepromatous Leprosy 49 0.031
275
GNT003 Genital Herpes 54 0.031
276
PTR006 Peters Anomaly 64 0.030
277
DRG011 Drug Addiction 51 0.030
278
ORL013 Oral Lichen Planus 47 0.030
279
RFT001 Rift Valley Fever 43 0.030
280
P DYS026 Dysfibrinogenemia 41 0.030
281
c ACQ042 Acquired Hemophilia a 39 0.030
282
c MLG069 Malignant Hypertension 47 0.030
283
PRT038 Protein-Energy Malnutrition 49 0.030
284
c MNT179 Mental Retardation, Autosomal Dominant 21 19 0.030
285
P PRS038 Personality Disorder 61 0.030
286
HLL004 Hellp Syndrome 49 0.030
287
IMM078 Immunodeficiency 21 35 0.030
288
NNT012 Neonatal Jaundice 51 0.030
289
c ACQ014 Acquired Hemophilia 42 0.030
290
DRC001 Dracunculiasis 36 0.030
291
ACR008 Acrocallosal Syndrome 51 0.029
292
MCL003 Macular Holes 41 0.029
293
TRN066 Transmitted_by 24 0.029
294
ERY004 Erysipelas 40 0.029
295
CNT060 Central Serous Chorioretinopathy 40 0.029
296
P PTN002 Patent Ductus Arteriosus 52 0.029
297
KLD001 Keloids 51 0.029
298
P AFB001 Afibrinogenemia 46 0.029
299
c MNT230 Mental Retardation, X-Linked Syndromic 5 32 0.029
300
NSP003 Nasopharyngeal Disease 30 0.029
301
c CRN209 Cornelia De Lange Syndrome 5 24 0.029
302
BLD034 Bile Duct Carcinoma 55 0.029
303
ANC001 Ancylostomiasis 43 0.029
304
MDR004 Madras Motor Neuron Disease 23 0.029
305
P FNG005 Feingold Syndrome 43 0.029
306
AMN006 Aminoaciduria 42 0.029
307
FBR019 Fibromatosis 42 0.029
308
BNM005 Bone Marrow Necrosis 31 0.029
309
c BSL024 Basal Cell Carcinoma 1 45 0.029
310
MLT006 Multidrug-Resistant Tuberculosis 46 0.029
311
DCB001 Decubitus Ulcer 44 0.029
312
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 34 0.029
313
c CRN135 Cornelia De Lange Syndrome 3 25 0.029
314
INS001 Insulinoma 59 0.028
315
DBT062 Diabetic Foot Ulcers 52 0.028
316
NRM004 Neuroma 48 0.028
317
URN003 Urinary Schistosomiasis 47 0.028
318
TBR006 Tuberculoid Leprosy 44 0.028
319
CHR101 Char Syndrome 29 0.028
320
P FTL001 Fetal Alcohol Syndrome 53 0.028
321
ADN027 Adenomyosis 46 0.028
322
SPN185 Spinal Cord Infarction 36 0.028
323
ENT007 Enteropathica 26 0.028
324
P AGN002 Agnosia 56 0.028
325
P MGR003 Migraine with Aura 51 0.028
326
RNL078 Renal Dysplasia 45 0.028
327
GNT031 Genitopatellar Syndrome 39 0.028
328
c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 14 0.028
329
HYP691 Hypomelanosis of Ito 42 0.028
330
c EHL027 Ehlers-Danlos Syndrome, Type Viic 32 0.028
331
SCL022 Scleredema 25 0.028
332
CRN036 Craniopharyngioma 52 0.028
333
P TRC091 Trichorhinophalangeal Syndrome, Type Ii 47 0.028
334
MYH012 Myhre Syndrome 35 0.028
335
INT004 Intraneural Perineurioma 33 0.028
336
PLM014 Pleomorphic Adenoma 50 0.028
337
MCR018 Microcytic Anemia 42 0.028
338
WLC001 Wolcott-Rallison Syndrome 40 0.028
339
TRP005 Trophoblastic Neoplasm 36 0.028
340
SWY001 Swayback 29 0.028
341
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 28 0.028
342
STR026 Star Syndrome 56 0.028
343
HYD005 Hydrocele 47 0.028
344
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 0.028
345
c ORF027 Orofacial Cleft 11 22 0.028
346
P HLL001 Hallermann-Streiff Syndrome 53 0.028
347
CLF001 Cleft Lip 49 0.028
348
KFM001 Kaufman Oculocerebrofacial Syndrome 31 0.028
349
LTH002 Lathosterolosis 29 0.028
350
c CRN111 Cranioectodermal Dysplasia 4 23 0.028
351
c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 21 0.028
352
c ZMM003 Zimmermann-Laband Syndrome 2 17 0.028
353
ECT005 Ectropion 40 0.027
354
BRB006 Barber-Say Syndrome 32 0.027
355
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 28 0.027
356
MLY005 Molybdenum Cofactor Deficiency B 22 0.027
357
LGD001 Leg Dermatosis 19 0.027
358
VRR004 Verrucous Carcinoma 53 0.027
359
P PRN022 Perineurioma 38 0.027
360
GLD002 Goldberg-Shprintzen Megacolon Syndrome 27 0.027
361
OHD003 Ohdo Syndrome, X-Linked 23 0.027
362
LKM006 Leukomalacia 42 0.027
363
BRN005 Brain Glioblastoma Multiforme 41 0.027
364
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 35 0.027
365
TRN021 Transaldolase Deficiency 35 0.027
366
GGN002 Gigantism 27 0.027
367
CTS022 Catshl Syndrome 23 0.027
368
P PLC011 Pilocytic Astrocytoma 58 0.027
369
OLG003 Oligohydramnios 52 0.027
370
CRN088 Craniorachischisis 32 0.027
371
MCR165 Microphthalmia with Limb Anomalies 32 0.027
372
ATY016 Atypical Werner Syndrome 26 0.027
373
P GLP001 Geleophysic Dysplasia 38 0.027
374
ADL053 Adult Astrocytic Tumour 37 0.027
375
MCK002 Meckel's Diverticulum 36 0.027
376
FLP001 Filippi Syndrome 26 0.027
377
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 23 0.027
378
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 21 0.027
379
c BRC053 Brachyolmia Type 2 18 0.027
380
P DFN296 Deafness-Onychodystrophy Syndrome 16 0.027
381
PST021 Postpartum Depression 49 0.027
382
SNL007 Senile Cataract 38 0.027
383
CHR209 Chromosome 17p Duplication 20 0.027
384
c SNG011 Singleton-Merten Syndrome 1 18 0.027
385
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 18 0.027
386
DNT019 Daentl Towsend Siegel Syndrome 14 0.027
387
c PRK074 Porokeratosis 9, Multiple Types 9 0.027
388
FCL014 Focal Epilepsy 56 0.026
389
BRD004 Borderline Personality Disorder 46 0.026
390
AML001 Amelanotic Melanoma 39 0.026
391
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.026
392
c GLB007 Glioblastoma 3 33 0.026
393
HMP001 Hemopericardium 32 0.026
394
TNC001 Tinea Cruris 31 0.026
395
EPT003 Epithelioid Trophoblastic Tumor 27 0.026
396
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 21 0.026
397
PRM206 Premature Aging Syndrome, Penttinen Type 21 0.026
398
RNL039 Renal Dysplasia-Limb Defects Syndrome 19 0.026
399
SPN113 Spinocerebellar Ataxia with Dysmorphism 18 0.026
400
HLL013 Hall-Riggs Mental Retardation Syndrome 16 0.026
401
PNT009 Pontine Tegmental Cap Dysplasia 23 0.026
402
HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 19 0.026
403
SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 16 0.026
404
PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 14 0.026
405
PLD002 Pilodental Dysplasia with Refractive Errors 13 0.026
406
ENC040 Encephalopathy Due to Sulfite Oxidase Deficiency 10 0.026
407
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 32 0.026
408
CHR382 Chromosome 18q Deletion Syndrome 32 0.026
409
HMF009 Hemifacial Hyperplasia 32 0.026
410
FMR018 Femoral-Facial Syndrome 27 0.026
411
INT022 Intracranial Primitive Neuroectodermal Tumor 26 0.026
412
CDG001 Cdags Syndrome 21 0.026
413
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 19 0.026
414
PRN017 Perianal Hematoma 15 0.026
415
FBR087 Fibromatosis, Gingival, with Distinctive Facies 15 0.026
416
ATK002 Atkin-Flaitz Syndrome 15 0.026
417
HYP681 Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 14 0.026
418
ACR039 Acromegaloid Hypertrichosis Syndrome 14 0.026
419
BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 13 0.026
420
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 12 0.026
421
CLF019 Cleft Palate Short Stature Vertebral Anomalies 11 0.026
422
LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 11 0.026
423
LYM005 Lymphocele 38 0.026
424
CHR415 Chronic Venous Leg Ulcers 38 0.026
425
SQM018 Squamous Cell Carcinoma of the Oral Tongue 35 0.026
426
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 35 0.026
427
OHD004 Ohdo Syndrome 32 0.026
428
PLL008 Pallister-Killian Syndrome 31 0.026
429
TRN006 Transvestism 28 0.026
430
OPH001 Ophthalmomyiasis 21 0.026
431
16Q001 16q24.3 Microdeletion Syndrome 19 0.026
432
CHR266 Chromosome 8p23.1 Deletion 19 0.026
433
CHR212 Chromosome 18p Duplication 16 0.026
434
8P2002 8p23.1 Duplication Syndrome 14 0.026
435
CRN224 Craniofaciofrontodigital Syndrome 14 0.026
436
ORL024 Oral and Digital Anomalies with Ichthyosis 12 0.026
437
ODN021 Odontotrichoungual-Digital-Palmar Syndrome 12 0.026
438
P MTR057 Maternal Uniparental Disomy of Chromosome X 11 0.026
439
ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 10 0.026
440
BRN062 Burn-Mckeown Syndrome 22 0.025
441
c MYC055 Mycobacterium Tuberculosis 3 18 0.025
442
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 18 0.025
443
FRY007 Fryns Macrocephaly 12 0.025
444
6QT002 6q Terminal Deletion Syndrome 14 0.025
445
PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 13 0.025
446
DST055 Distal 22q11.2 Microduplication Syndrome 13 0.025
447
16P003 16p13.11 Microdeletion Syndrome 12 0.025
448
PRP015 Paraphilia Disorder 12 0.025
449
SCH031 Scholte Syndrome 11 0.025
450
ORB019 Orbital Margin, Hypoplasia of 11 0.025
451
PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 9 0.025
452
KLD003 Keloid Formation 28 0.025
453
3MS005 3-M Syndrome 2 25 0.025