Search results for border disease

523 hits were found for border disease

# Family MCID Name MIFTS Score
1
DRR016 Diarrhea 2, with Microvillus Atrophy 48 5.084
2
P HRT032 Heart Disease 80 0.117
3
c BLD140 Blood Group, I System 37 0.113
4
NRN002 Neuronitis 43 0.108
5
MLR004 Malaria 86 0.104
6
P CRN018 Coronary Artery Anomaly 69 0.103
7
P HPT021 Hepatitis 75 0.102
8
LNG099 Lung Disease 67 0.097
9
P CRN300 Coronary Heart Disease 1 57 0.088
10
AGN016 Aging 65 0.084
11
END072 Endotheliitis 46 0.077
12
ISC006 Ischemic Heart Disease 73 0.075
13
ISC004 Ischemia 66 0.073
14
DDN006 Duodenitis 46 0.073
15
P MYC084 Mycobacterium Tuberculosis 1 69 0.071
16
P CLC063 Celiac Disease 1 65 0.070
17
P BRS047 Breast Cancer 100 0.069
18
CRB009 Cerebritis 41 0.069
19
RTN023 Retinitis 52 0.068
20
P THY032 Thyroiditis 56 0.068
21
RSP006 Respiratory System Disease 63 0.068
22
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.066
23
P HMR012 Hemorrhagic Fever 60 0.064
24
P MYC007 Myocardial Infarction 81 0.063
25
P CRV039 Cervicitis 49 0.063
26
P LYM118 Lymphoma 71 0.062
27
P DRR001 Diarrhea 60 0.062
28
MTH009 Mouth Disease 64 0.061
29
ANR040 Aneurysm 61 0.061
30
SKN016 Skin Disease 68 0.061
31
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.061
32
MCS002 Mucositis 61 0.060
33
P PNM007 Pneumonia 70 0.060
34
P ADN016 Adenocarcinoma 71 0.059
35
PLS006 Plasmodium Vivax Malaria 56 0.059
36
TNG003 Tongue Cancer 63 0.059
37
P PNC044 Pancreatitis 64 0.059
38
c VRL010 Viral Hepatitis 59 0.058
39
P FNC004 Fanconi Syndrome 54 0.058
40
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.058
41
MTR014 Motor Neuron Disease 62 0.057
42
ADN018 Adenoma 63 0.057
43
P HYP086 Hypothyroidism 62 0.056
44
P LPS004 Lupus Erythematosus 69 0.056
45
NLP001 Nail-Patella Syndrome 56 0.054
46
ACQ007 Acquired Immunodeficiency Syndrome 65 0.054
47
P MYP004 Myopathy 69 0.053
48
P NRP001 Neuropathy 63 0.052
49
BRC012 Brucellosis 71 0.051
50
CYS001 Cystic Fibrosis 85 0.051
51
P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56 0.051
52
NRR002 Norrie Disease 61 0.050
53
c HMP029 Hemophilia a 69 0.049
54
DNG002 Dengue Hemorrhagic Fever 66 0.049
55
P ENC004 Encephalitis 66 0.049
56
ONC002 Onchocerciasis 53 0.048
57
c BRC053 Brachyolmia Type 2 21 0.048
58
P TTR001 Tetralogy of Fallot 70 0.048
59
P GLM045 Glioma 61 0.048
60
SQM006 Squamous Cell Carcinoma 74 0.048
61
PLS007 Plasmodium Falciparum Malaria 59 0.048
62
RNL039 Renal Dysplasia-Limb Defects Syndrome 27 0.048
63
P LPC002 Lip Cancer 54 0.048
64
P LPR021 Leprosy 3 59 0.047
65
ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21 0.047
66
c MNN043 Meningioma, Familial 69 0.047
67
P ALC004 Alcohol Abuse 63 0.047
68
CYS013 Cystinuria 64 0.047
69
HYP006 Hypertensive Heart Disease 51 0.046
70
HRL003 Hurler Syndrome 55 0.046
71
BRN028 Brain Cancer 72 0.046
72
c HPT001 Hepatitis C 73 0.046
73
ANX010 Anxiety 72 0.046
74
MNT002 Mental Depression 60 0.045
75
P CRN074 Coronary Artery Aneurysm 47 0.045
76
BRN106 Burns 57 0.045
77
INS024 Insulin-Like Growth Factor I 83 0.045
78
PLM102 Palmoplantar Keratoderma, Epidermolytic 47 0.045
79
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62 0.045
80
P GNT008 Giant Cell Tumor 49 0.044
81
HMG005 Hemoglobinopathy 53 0.044
82
SPT005 Spotted Fever 57 0.044
83
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57 0.044
84
P GLM007 Glomerulonephritis 61 0.043
85
FLT006 Floating-Harbor Syndrome 45 0.043
86
P LCH002 Lichen Planus 58 0.043
87
SCR008 Scrub Typhus 65 0.043
88
CHR101 Char Syndrome 51 0.043
89
P CLR023 Colorectal Cancer 98 0.043
90
BLN006 Blind Loop Syndrome 30 0.043
91
P INF038 Influenza 77 0.043
92
YNS002 Yunis-Varon Syndrome 48 0.042
93
P RTT002 Rett Syndrome 82 0.042
94
AMB001 Amebiasis 48 0.042
95
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.042
96
GMZ002 Gomez-Lopez-Hernandez Syndrome 29 0.042
97
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22 0.042
98
c HPT073 Hepatitis C Virus 73 0.042
99
BBS001 Babesiosis 51 0.041
100
MLT157 Multiple System Atrophy 1 65 0.041
101
MLG141 Malignant Atrophic Papulosis 33 0.041
102
CHR667 Chromosome 3pter-P25 Deletion Syndrome 37 0.041
103
c PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 14 0.041
104
c MNT158 Mental Retardation, Autosomal Dominant 22 25 0.041
105
STR008 Strongyloidiasis 54 0.041
106
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38 0.041
107
MLN008 Melanoma 72 0.041
108
WST005 West Nile Virus 58 0.041
109
GNG013 Gingivitis 64 0.040
110
MYL009 Myelodysplastic Syndrome 75 0.040
111
P CTR002 Cataract 60 0.040
112
c HPT003 Hepatitis a 63 0.040
113
SPN331 Spondyloocular Syndrome 34 0.040
114
RBS001 Rabies 63 0.040
115
OST016 Osteochondrosis 52 0.040
116
P SCH015 Schizophrenia 71 0.040
117
c BSL007 Basal Cell Carcinoma 66 0.040
118
SKN027 Skin Conditions 48 0.040
119
P EPL164 Epilepsy 70 0.039
120
EWN002 Ewing's Family of Tumors 49 0.039
121
SCH036 Scheie Syndrome 68 0.039
122
HTC003 Hutchinson-Gilford Progeria Syndrome 62 0.039
123
ASP002 Aspartylglucosaminuria 57 0.039
124
HYP017 Hypophosphatemia 45 0.039
125
KNZ001 Kanzaki Disease 36 0.039
126
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36 0.039
127
P SCH017 Schindler Disease 30 0.039
128
NCL006 Nicolaides-Baraitser Syndrome 45 0.039
129
TNS007 Taeniasis 41 0.039
130
NRX001 Neuroaxonal Dystrophy 40 0.039
131
CHL056 Cheilitis 47 0.039
132
NRL016 Neural Tube Defects 79 0.038
133
P CNT004 Centronuclear Myopathy 54 0.038
134
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.038
135
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63 0.038
136
P AST007 Astrocytoma 66 0.038
137
CNT105 Central Core Disease of Muscle 57 0.038
138
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.038
139
P CRN015 Cornelia De Lange Syndrome 65 0.038
140
c GLY003 Glycogen Storage Disease Iii 56 0.038
141
LGG001 Legg-Calve-Perthes Disease 59 0.038
142
P EXN002 Exanthem 62 0.038
143
GLB002 Glioblastoma 74 0.038
144
CRT015 Carotid Artery Occlusion 42 0.038
145
GGR001 Geographic Tongue 52 0.038
146
PBL005 Piebald Trait 56 0.037
147
P PTT014 Pitt-Hopkins Syndrome 52 0.037
148
CRV002 Cervix Uteri Carcinoma in Situ 40 0.037
149
c MLG079 Malignant Pleural Mesothelioma 54 0.037
150
P CNT056 Cantu Syndrome 51 0.037
151
CRV045 Cervical Intraepithelial Neoplasia 43 0.037
152
PRP056 Porphyria, Acute Hepatic 41 0.037
153
P END033 Endocarditis 58 0.037
154
ELL001 Ellis-Van Creveld Syndrome 61 0.037
155
GLB015 Glioblastoma Multiforme 68 0.037
156
P INF032 Infertility 59 0.037
157
EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48 0.037
158
P HMP007 Hemophilia 61 0.037
159
P HRP006 Herpes Simplex 70 0.036
160
c TRC092 Trichorhinophalangeal Syndrome, Type I 48 0.036
161
SLF014 Sulfite Oxidase Deficiency, Isolated 35 0.036
162
LYM021 Lymphadenitis 62 0.036
163
SCH014 Schistosomiasis 62 0.036
164
GST053 Gastric Cancer 84 0.036
165
GLS018 Glass Syndrome 38 0.036
166
TMP011 Temple-Baraitser Syndrome 32 0.036
167
ABL002 Ablepharon-Macrostomia Syndrome 55 0.036
168
CLN015 Colon Adenocarcinoma 53 0.036
169
GLL028 Gillespie Syndrome 33 0.036
170
c PRK080 Porokeratosis 3, Multiple Types 22 0.036
171
MYH012 Myhre Syndrome 41 0.036
172
c PRK082 Porokeratosis 1, Multiple Types 41 0.036
173
P OVR042 Ovarian Cancer 82 0.036
174
CTY001 Cat Eye Syndrome 49 0.036
175
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.036
176
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35 0.036
177
c PRK075 Porokeratosis 7, Multiple Types 18 0.036
178
HMS001 Hemosiderosis 50 0.036
179
P SLV001 Silver-Russell Syndrome 57 0.036
180
P MRG008 Meier-Gorlin Syndrome 1 42 0.036
181
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.036
182
PYR016 Pyridoxine Deficiency 37 0.035
183
c PRK074 Porokeratosis 9, Multiple Types 14 0.035
184
P NRB001 Neuroblastoma 73 0.035
185
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32 0.035
186
NLX004 Neu-Laxova Syndrome 1 49 0.035
187
c LRS002 Larsen-Like Syndrome 42 0.035
188
GLC022 Glucose/galactose Malabsorption 40 0.035
189
OST032 Osteofibrous Dysplasia 51 0.035
190
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.035
191
P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33 0.035
192
ATY016 Atypical Werner Syndrome 31 0.035
193
c NRF024 Neurofibromatosis, Type I 63 0.035
194
MCR165 Microphthalmia with Limb Anomalies 45 0.035
195
TNC003 Tinea Corporis 40 0.035
196
RVL002 Ruvalcaba Syndrome 37 0.035
197
CHL075 Cheilitis Glandularis 26 0.035
198
LG4001 Lig4 Syndrome 51 0.035
199
c RNG023 Ring Chromosome 7 50 0.035
200
FRN039 Frank-Ter Haar Syndrome 37 0.035
201
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36 0.035
202
12Q002 12q14 Microdeletion Syndrome 31 0.035
203
c RNG005 Ring Chromosome 10 27 0.035
204
PST007 Post-Vaccinal Encephalitis 22 0.035
205
CRN030 Coronary Stenosis 52 0.035
206
MDD011 Mood Disorder 64 0.035
207
EXS001 Exostosis 46 0.035
208
CRY032 Carey-Fineman-Ziter Syndrome 33 0.035
209
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 31 0.035
210
MHM001 Mehmo Syndrome 30 0.035
211
HYP682 Hypertelorism, Teebi Type 26 0.035
212
c ORF027 Orofacial Cleft 11 19 0.035
213
VLP002 Valproate Embryopathy 46 0.034
214
CHR543 Chromosome 2q37 Deletion Syndrome 34 0.034
215
c RNG018 Ring Chromosome 22 32 0.034
216
CHR209 Chromosome 17p Duplication 29 0.034
217
CHR266 Chromosome 8p23.1 Deletion 27 0.034
218
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 23 0.034
219
ATK002 Atkin-Flaitz Syndrome 20 0.034
220
SPN113 Spinocerebellar Ataxia with Dysmorphism 19 0.034
221
CHR159 Charlie M Syndrome 17 0.034
222
P MYP006 Myopia 56 0.034
223
P CND004 Candidiasis 61 0.034
224
c MNT221 Mental Retardation, Autosomal Recessive 44 21 0.034
225
P EPL003 Epulis 34 0.034
226
HRS002 Hersh Podruch Weisskopk Syndrome 21 0.034
227
PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 20 0.034
228
19P001 19p13.12 Microdeletion Syndrome 18 0.034
229
HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18 0.034
230
INT043 Intestinal Disaccharidase Deficiency 12 0.034
231
CHK001 Chikungunya 61 0.034
232
c MNS014 Monosomy 22 37 0.034
233
CHR382 Chromosome 18q Deletion Syndrome 35 0.034
234
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35 0.034
235
CHR265 Chromosome 8p Duplication 27 0.034
236
ACR039 Acromegaloid Hypertrichosis Syndrome 18 0.034
237
CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 18 0.034
238
LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16 0.034
239
HRT031 Hartnup Disorder 48 0.034
240
QFV001 Q Fever 61 0.034
241
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.034
242
PHR003 Pharyngitis 59 0.034
243
CHR229 Chromosome 20p Duplication 28 0.034
244
16Q001 16q24.3 Microdeletion Syndrome 26 0.034
245
CRN049 Craniolenticulosutural Dysplasia 26 0.034
246
CHR212 Chromosome 18p Duplication 25 0.034
247
1Q4001 1q44 Microdeletion Syndrome 20 0.034
248
8P2002 8p23.1 Duplication Syndrome 19 0.034
249
CRN224 Craniofaciofrontodigital Syndrome 18 0.034
250
EDN001 Edinburgh Malformation Syndrome 18 0.034
251
FLR002 Filariasis 58 0.034
252
MGR028 Migraine with or Without Aura 1 55 0.033
253
APL001 Aplastic Anemia 74 0.033
254
CCC001 Coccidioidomycosis 60 0.033
255
CHR399 Chromosome 4q21 Deletion Syndrome 26 0.033
256
c LCT011 Lactose Intolerance, Adult Type 24 0.033
257
CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23 0.033
258
MSM018 Mesomelic Limb Shortening and Bowing 19 0.033
259
VNR001 Van Regemorter Pierquin Vamos Syndrome 15 0.033
260
P MMB011 Membranous Nephropathy 55 0.033
261
BNF002 Bone Fracture 56 0.033
262
TTR014 Tetrasomy 18p 26 0.033
263
PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 22 0.033
264
6QT002 6q Terminal Deletion Syndrome 20 0.033
265
DST045 Distal Trisomy 6p 18 0.033
266
DST055 Distal 22q11.2 Microduplication Syndrome 17 0.033
267
PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 17 0.033
268
20Q001 20q13.33 Microdeletion Syndrome 16 0.033
269
c MTR057 Maternal Uniparental Disomy of Chromosome X 15 0.033
270
DST079 Distal Trisomy 5q 15 0.033
271
NND005 Non-Distal Trisomy 13q 15 0.033
272
PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12 0.033
273
P TBR001 Tuberous Sclerosis 69 0.033
274
c CNG192 Congenital Disorder of Glycosylation, Type Ik 30 0.033
275
c MCR113 Microvascular Complications of Diabetes 3 55 0.033
276
TYP007 Typhoid Fever 67 0.033
277
HMR004 Hemorrhagic Fever with Renal Syndrome 63 0.033
278
RCK004 Rickets 63 0.033
279
P NNN008 Noonan Syndrome 1 77 0.032
280
INF034 Infective Endocarditis 56 0.032
281
P CTN003 Cutaneous Lupus Erythematosus 53 0.032
282
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.032
283
c MNT322 Mental Retardation, Autosomal Dominant 27 22 0.032
284
GST023 Gastric Ulcer 57 0.032
285
P CRB059 Cerebellar Degeneration 40 0.032
286
SPL004 Splenic Marginal Zone Lymphoma 52 0.032
287
c MTR002 Mitral Valve Insufficiency 46 0.032
288
CLL003 Cellulitis 53 0.032
289
FSC004 Fasciitis 48 0.032
290
LST001 Listeriosis 55 0.031
291
P HYP098 Hypereosinophilic Syndrome 65 0.031
292
ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45 0.031
293
SPN186 Spinal Cord Injury 67 0.031
294
c MCR130 Microvascular Complications of Diabetes 6 42 0.031
295
c MCR120 Microvascular Complications of Diabetes 7 34 0.031
296
c MCR133 Microvascular Complications of Diabetes 4 32 0.031
297
LYM007 Lymphangioleiomyomatosis 68 0.031
298
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 27 0.031
299
LPR001 Lepromatous Leprosy 53 0.031
300
TLR001 Tularemia 44 0.031
301
c CNG006 Congenital Hypothyroidism 62 0.031
302
ACR005 Acrodermatitis 35 0.031
303
PRT038 Protein-Energy Malnutrition 52 0.030
304
ISC002 Ischemic Optic Neuropathy 48 0.030
305
c CNG389 Congenital Disorder of Glycosylation, Type Iim 28 0.030
306
DBT062 Diabetic Foot Ulcers 59 0.030
307
GNT003 Genital Herpes 58 0.030
308
RCK002 Rocky Mountain Spotted Fever 42 0.030
309
c CNG191 Congenital Disorder of Glycosylation, Type Iia 35 0.030
310
FBR032 Fibromuscular Dysplasia 53 0.030
311
CRD001 Cardiac Tamponade 45 0.030
312
LCH009 Lichen Sclerosus 45 0.030
313
c MNT212 Mental Retardation, Autosomal Dominant 26 26 0.030
314
HMP001 Hemopericardium 34 0.030
315
PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48 0.030
316
c ACQ042 Acquired Hemophilia a 44 0.030
317
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.030
318
c OST123 Osteogenesis Imperfecta, Type Xiii 26 0.030
319
WLL006 Wells Syndrome 57 0.030
320
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.030
321
HRL004 Hurler-Scheie Syndrome 40 0.030
322
c MLG069 Malignant Hypertension 49 0.030
323
RFT001 Rift Valley Fever 48 0.030
324
FLR001 Filarial Elephantiasis 37 0.030
325
P PRK001 Porokeratosis 49 0.029
326
ORL013 Oral Lichen Planus 51 0.029
327
c ACQ014 Acquired Hemophilia 51 0.029
328
ANK001 Ankylosis 56 0.029
329
HLL004 Hellp Syndrome 53 0.029
330
URN003 Urinary Schistosomiasis 50 0.029
331
P DYS026 Dysfibrinogenemia 51 0.029
332
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 51 0.029
333
KLD001 Keloids 50 0.029
334
P PRD006 Prader-Willi Syndrome 66 0.029
335
TRN066 Transmitted_by 26 0.029
336
CMP005 Campomelic Dysplasia 58 0.029
337
ACR008 Acrocallosal Syndrome 56 0.029
338
ERY004 Erysipelas 43 0.029
339
c BSL024 Basal Cell Carcinoma 1 42 0.029
340
CNT060 Central Serous Chorioretinopathy 45 0.029
341
P BCT020 Bacteremia 2 34 0.029
342
MCL003 Macular Holes 44 0.029
343
CRM001 Crimean-Congo Hemorrhagic Fever 58 0.029
344
DRC001 Dracunculiasis 40 0.029
345
INS001 Insulinoma 66 0.029
346
ETN001 Eating Disorder 61 0.029
347
BRN080 Brain Ischemia 45 0.029
348
CRN036 Craniopharyngioma 63 0.028
349
NRV006 Nervous System Cancer 61 0.028
350
ANC001 Ancylostomiasis 48 0.028
351
FBR019 Fibromatosis 47 0.028
352
P PTN014 Patent Ductus Arteriosus 1 45 0.028
353
MDR004 Madras Motor Neuron Disease 29 0.028
354
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25 0.028
355
PST028 Post-Traumatic Stress Disorder 59 0.028
356
GST009 Gastroschisis 55 0.028
357
c JBR016 Joubert Syndrome 10 20 0.028
358
NNT012 Neonatal Jaundice 51 0.028
359
P AFB001 Afibrinogenemia 49 0.028
360
AMN006 Aminoaciduria 41 0.028
361
SPN185 Spinal Cord Infarction 33 0.028
362
P MGR003 Migraine with Aura 56 0.028
363
RNL078 Renal Dysplasia 49 0.028
364
MLT006 Multidrug-Resistant Tuberculosis 48 0.028
365
GNT031 Genitopatellar Syndrome 43 0.028
366
LGS001 Legius Syndrome 52 0.028
367
P GLM040 Glioma Susceptibility 1 51 0.028
368
P GNG025 Gingival Fibromatosis 50 0.028
369
P AGN002 Agnosia 61 0.028
370
P SBS003 Substance Abuse 57 0.028
371
CLF001 Cleft Lip 54 0.028
372
GLD006 Goldberg-Shprintzen Syndrome 48 0.028
373
TBR006 Tuberculoid Leprosy 46 0.028
374
PLN026 Pilonidal Sinus 35 0.028
375
c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38 0.028
376
ENT007 Enteropathica 29 0.028
377
SCL022 Scleredema 27 0.028
378
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22 0.028
379
P PRS038 Personality Disorder 65 0.027
380
BLD034 Bile Duct Carcinoma 60 0.027
381
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.027
382
GST010 Gestational Trophoblastic Neoplasm 38 0.027
383
RDN004 Radin Blood Group Antigen 23 0.027
384
P HRD001 Hereditary Multiple Exostoses 45 0.027
385
SCR037 Sucrase-Isomaltase Deficiency, Congenital 33 0.027
386
SWY001 Swayback 30 0.027
387
SCH012 Schizoaffective Disorder 51 0.027
388
LKM006 Leukomalacia 46 0.027
389
MCR018 Microcytic Anemia 43 0.027
390
ADN027 Adenomyosis 57 0.027
391
TRP005 Trophoblastic Neoplasm 37 0.027
392
GGN002 Gigantism 36 0.027
393
c PRK084 Porokeratosis 6, Multiple Types 18 0.027
394
P OLG002 Oligodendroglioma 59 0.027
395
NRM004 Neuroma 51 0.027
396
HYD005 Hydrocele 51 0.027
397
HYP691 Hypomelanosis of Ito 49 0.027
398
GLC009 Glucosephosphate Dehydrogenase Deficiency 48 0.027
399
PTT059 Pettigrew Syndrome 40 0.027
400
ADR038 Adermatoglyphia 40 0.027
401
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29 0.027
402
c INF002 Inflammatory Diarrhea 23 0.027
403
c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 15 0.027
404
PTR032 Peters-Plus Syndrome 60 0.027
405
P HLL001 Hallermann-Streiff Syndrome 58 0.027
406
P FNG006 Feingold Syndrome 1 44 0.027
407
LCH016 Lichen Sclerosus Et Atrophicus 36 0.027
408
PLY135 Polydactyly, Postaxial, with Progressive Myopia 30 0.027
409
ULC005 Ulcer of Lower Limbs 23 0.027
410
ECT005 Ectropion 47 0.027
411
PRS051 Parastremmatic Dwarfism 25 0.027
412
c LKD020 Leukodystrophy, Hypomyelinating, 10 23 0.027
413
c MNT273 Mental Retardation, Autosomal Dominant 44 21 0.027
414
c CRN135 Cornelia De Lange Syndrome 3 21 0.027
415
PST021 Postpartum Depression 54 0.026
416
c ADN012 Adenocarcinoma in Situ 45 0.026
417
DCB001 Decubitus Ulcer 44 0.026
418
c MLT059 Multiple Synostoses Syndrome 1 34 0.026
419
LTH002 Lathosterolosis 34 0.026
420
c CRN209 Cornelia De Lange Syndrome 5 23 0.026
421
c MNT179 Mental Retardation, Autosomal Dominant 21 20 0.026
422
c SPH017 Spherocytosis, Type 5 30 0.026
423
c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 26 0.026
424
c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24 0.026
425
PLM014 Pleomorphic Adenoma 55 0.026
426
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47 0.026
427
TRN021 Transaldolase Deficiency 39 0.026
428
c CRN111 Cranioectodermal Dysplasia 4 24 0.026
429
c ZMM003 Zimmermann-Laband Syndrome 2 18 0.026
430
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.026
431
KFM001 Kaufman Oculocerebrofacial Syndrome 36 0.026
432
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33 0.026
433
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 31 0.026
434
PLT007 Palatopharyngeal Incompetence 31 0.026
435
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 25 0.026
436
c SNG011 Singleton-Merten Syndrome 1 23 0.026
437
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22 0.026
438
BRB006 Barber-Say Syndrome 35 0.026
439
c MRG014 Meier-Gorlin Syndrome 6 21 0.026
440
OHD004 Ohdo Syndrome 41 0.026
441
PLM136 Palmoplantar Keratoderma, Nonepidermolytic 40 0.026
442
CRN088 Craniorachischisis 38 0.026
443
FLP001 Filippi Syndrome 32 0.026
444
CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26 0.026
445
OHD003 Ohdo Syndrome, X-Linked 23 0.026
446
MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22 0.026
447
FCL014 Focal Epilepsy 56 0.025
448
AML001 Amelanotic Melanoma 42 0.025
449
OLG003 Oligohydramnios 41 0.025
450
EPT003 Epithelioid Trophoblastic Tumor 33 0.025
451
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31 0.025
452
c ACR044 Acroosteolysis Dominant Type 29 0.025
453
HMM004 Hamamy Syndrome 27 0.025
454
SHP004 Shprintzen Omphalocele Syndrome 23 0.025
455
SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 21 0.025
456
P PLC011 Pilocytic Astrocytoma 63 0.025
457
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38 0.025
458
LYM005 Lymphocele 37 0.025
459
INT004 Intraneural Perineurioma 36 0.025
460
VLL006 Villous Adenoma 34 0.025
461
TNC001 Tinea Cruris 33 0.025
462
SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 28 0.025
463
MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25 0.025
464
HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 24 0.025
465
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21 0.025
466
EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16 0.025
467
BRD004 Borderline Personality Disorder 50 0.025
468
OHD005 Ohdo Syndrome, Sbbys Variant 35 0.025
469
PRP093 Pierpont Syndrome 30 0.025
470
PRM206 Premature Aging Syndrome, Penttinen Type 25 0.025
471
MCR193 Microcystic Lymphatic Malformation 23 0.025
472
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 22 0.025
473
c THR069 Three M Syndrome 2 21 0.025
474
BRN032 Brain Glioma 48 0.025
475
P CRB101 Cerebrooculofacioskeletal Syndrome 1 42 0.025
476
SNL007 Senile Cataract 41 0.025
477
PNT009 Pontine Tegmental Cap Dysplasia 29 0.025
478
SQM018 Squamous Cell Carcinoma of the Oral Tongue 27 0.025
479
OPH001 Ophthalmomyiasis 25 0.025
480
FBR087 Fibromatosis, Gingival, with Distinctive Facies 23 0.025
481
NVD003 Nevoid Hypermelanosis, Linear and Whorled 22 0.025
482
HLL013 Hall-Riggs Mental Retardation Syndrome 22 0.025
483
SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 20 0.025
484
MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 20 0.025
485
BRC018 Brachioskeletogenital Syndrome 19 0.025
486
SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18 0.025
487
PRN017 Perianal Hematoma 16 0.025
488
TRN006 Transvestism 30 0.024
489
WTT002 Witteveen-Kolk Syndrome 29 0.024
490
LNR004 Linear Porokeratosis 27 0.024
491
PRP015 Paraphilia Disorder 26 0.024
492
HMF009 Hemifacial Hyperplasia 26 0.024
493
CDG001 Cdags Syndrome 25 0.024
494
RCM003 Recombinant Chromosome 8 Syndrome 25 0.024
495
ALZ030 Alazami Syndrome 24 0.024
496
MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22 0.024
497
WDS002 Woods Syndrome 21 0.024
498
MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 18 0.024
499
HLL011 Hall-Riggs Syndrome 17 0.024
500
ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16 0.024
501
P PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14 0.024
502
c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 12 0.024
503
PRN022 Perineurioma 38 0.024
504
RCT008 Rectosigmoid Junction Neoplasm 30 0.024
505
BRN062 Burn-Mckeown Syndrome 28 0.024
506
CHT006 Chitayat Syndrome 24 0.024
507
CNR037 Cone-Rod Dystrophy and Hearing Loss 23 0.024
508
CHR219 Chromosome 19q13.11 Deletion Syndrome 23 0.024
509
PBL004 Piebald Trait with Neurologic Defects 18 0.024
510
ILL003 Illum Syndrome 17 0.024
511
KRT066 Keratosis, Focal Palmoplantar and Gingival 16 0.024
512
ART048 Arthrogryposis Multiplex Congenita Whistling Face 16 0.024
513
PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 15 0.024
514
ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 12 0.024
515
SCL044 Scalp Syndrome 12 0.024
516
WLL012 Williams-Beuren Region Duplication Syndrome 26 0.024
517
MCR302 Macrostomia, Isolated 24 0.024
518
BRC046 Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 21 0.024
519
ORB019 Orbital Margin, Hypoplasia of 17 0.024
520
ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 16 0.024
521
2Q3005 2q31.1 Microdeletion Syndrome 15 0.024
522
CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15 0.024
523
THV001 Thauvin-Robinet-Faivre Syndrome 20 0.023
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