Search results for "encephaloceles"

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

289 hits were found for 'encephaloceles'

# Family MCID Name MIFTS Score
1
P ENC008 Encephalocele 53 5.364
2
c FRN037 Frontal Encephalocele 23 3.765
3
PRT087 Parietal Encephalocele 12 3.634
4
OCC011 Occipital Encephalocele 29 3.479
5
c BSL030 Basal Encephalocele 28 3.224
6
NSL021 Nasal Encephalocele 13 3.105
7
ISL079 Isolated Encephalocele 6 3.026
8
P DKP001 Dk Phocomelia Syndrome 25 2.947
9
c KNB001 Knobloch Syndrome 24 2.947
10
ENC009 Encephalocele Anencephaly 2 2.866
11
P KNB003 Knobloch Syndrome Type I 31 2.155
12
CRN213 Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 15 2.059
13
BRC017 Brachial Amelia, Forebrain Defects and Facial Clefts 5 2.059
14
P HYD006 Hydrocephalus 69 0.146
15
c MNN013 Meningitis 67 0.141
16
c TRT010 Teratoma 58 0.123
17
CRN194 Cranial Meningocele 13 0.123
18
SPN038 Spina Bifida 66 0.117
19
P MNN007 Meningocele 40 0.117
20
c MCK006 Meckel Syndrome 55 0.110
21
c FRN023 Frontonasal Dysplasia 49 0.110
22
NRN002 Neuronitis 43 0.110
23
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.110
24
CRB009 Cerebritis 38 0.110
25
NRL016 Neural Tube Defects 69 0.103
26
MYL020 Myelomeningocele 61 0.103
27
c MCR010 Microcephaly 56 0.103
28
SYN053 Syndromic Diarrhea 34 0.103
29
CRB079 Cerebrospinal Fluid Leak 30 0.103
30
P LRY019 Laryngitis 64 0.096
31
ANN002 Anencephaly 58 0.096
32
P DND001 Dandy-Walker Syndrome 57 0.096
33
P EXP004 Exophthalmos 54 0.096
34
P MCK022 Meckel Syndrome 1 50 0.096
35
P HMN010 Hemangioma 70 0.087
36
c HLP001 Holoprosencephaly 68 0.087
37
ACN002 Acanthosis Nigricans 64 0.087
38
P FRS003 Fraser Syndrome 62 0.087
39
TMP001 Temporal Lobe Epilepsy 58 0.087
40
P CLF002 Cleft Palate 51 0.087
41
P ATX010 Ataxia Neuropathy Spectrum 47 0.087
42
INN003 Iniencephaly 30 0.087
43
P NRF002 Neurofibromatosis 94 0.078
44
P MNN012 Meningioma 78 0.078
45
c JBR001 Joubert Syndrome 69 0.078
46
c THR014 Thrombocytopenia 69 0.078
47
SPT014 Septo-Optic Dysplasia 69 0.078
48
c THN001 Thanatophoric Dysplasia 61 0.078
49
P PLY006 Polydactyly 56 0.078
50
P HLP012 Holoprosencephaly-3 56 0.078
51
THR013 Thoracic Outlet Syndrome 52 0.078
52
c JBR013 Joubert Syndrome 8 50 0.078
53
c BCT007 Bacterial Meningitis 49 0.078
54
MRC004 Murcs Association 49 0.078
55
P ACH008 Achondrogenesis Type Ia 49 0.078
56
NSP002 Nasopharyngitis 48 0.078
57
AGN013 Agenesis of the Corpus Callosum 44 0.078
58
c ACH011 Achondrogenesis 42 0.078
59
MTR010 Mature Teratoma 40 0.078
60
c THN002 Thanatophoric Dysplasia Type 2 39 0.078
61
MNN022 Meningoencephalocele 23 0.078
62
SBP003 Subependymal Nodular Heterotopia 12 0.078
63
P LVR011 Liver Cancer 90 0.068
64
P OBS005 Obesity 89 0.068
65
P HYP075 Hypertension 85 0.068
66
P CNG401 Congenital Heart Disease 69 0.068
67
P BCK002 Beckwith-Wiedemann Syndrome 68 0.068
68
ADN018 Adenoma 65 0.068
69
LPM004 Lipoma 65 0.068
70
VCT001 Vacterl Association 62 0.068
71
GLD001 Goldenhar Syndrome 62 0.068
72
P RBL001 Rubella 62 0.068
73
P SCH018 Schizencephaly 61 0.068
74
PTT006 Pituitary Adenoma 61 0.068
75
P JBR004 Joubert Syndrome 2 57 0.068
76
P CRV039 Cervicitis 57 0.068
77
DDN006 Duodenitis 55 0.068
78
P KLP003 Klippel-Feil Syndrome 55 0.068
79
CCH002 Coach Syndrome 54 0.068
80
c ACR001 Aicardi-Goutieres Syndrome 54 0.068
81
INT075 Intracranial Hypertension 52 0.068
82
STS002 Situs Inversus 52 0.068
83
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 51 0.068
84
CHN005 Choanal Atresia 47 0.068
85
MDS022 Mediastinitis 45 0.068
86
P ADM005 Adams-Oliver Syndrome 1 44 0.068
87
P CYS017 Cystic Teratoma 43 0.068
88
EXN003 Exencephaly 39 0.068
89
CLF027 Cleft Palate, Isolated 37 0.068
90
FCS005 Faces Syndrome 32 0.068
91
c PHC014 Phocomelia 29 0.068
92
CRY010 Cryptophthalmos 29 0.068
93
CLN022 Colonic Atresia 28 0.068
94
ACR041 Acromelic Frontonasal Dysostosis 27 0.068
95
DND005 Dandy-Walker Complex 27 0.068
96
DRM005 Dermoid Cyst of Ovary 26 0.068
97
c MSC016 Mosaic Trisomy 14 25 0.068
98
CRN104 Craniotelencephalic Dysplasia 22 0.068
99
ART007 Aorta Atresia 22 0.068
100
HLP015 Holoprosencephaly - Postaxial Polydactyly 21 0.068
101
CRP003 Corpus Callosum Lipoma 15 0.068
102
P ATX002 Ataxia Telangiectasia 87 0.055
103
P TBR001 Tuberous Sclerosis 86 0.055
104
ANK002 Ankylosing Spondylitis 76 0.055
105
CRH001 Crohn's Disease 75 0.055
106
c OST001 Osteopetrosis 75 0.055
107
c DBT009 Diabetes Mellitus 73 0.055
108
P BRD002 Bardet-Biedl Syndrome 73 0.055
109
c OST005 Osteogenesis Imperfecta 72 0.055
110
P ANG001 Angelman Syndrome 71 0.055
111
PRT036 Peritonitis 71 0.055
112
c CRN037 Craniosynostosis 69 0.055
113
PTR006 Peters Plus Syndrome 68 0.055
114
P MLG068 Malignant Glioma 68 0.055
115
CLB001 Coloboma 68 0.055
116
P SHR002 Short Stature 68 0.055
117
c EHL001 Ehlers-Danlos Syndrome 63 0.055
118
ART019 Aortic Valve Stenosis 63 0.055
119
c HPT021 Hepatitis 63 0.055
120
CMP002 Campylobacteriosis 62 0.055
121
ART005 Arteriovenous Malformation 62 0.055
122
c KDN018 Kidney Disease 62 0.055
123
TYP007 Typhoid Fever 62 0.055
124
c PLY014 Polycystic Kidney Disease 61 0.055
125
CLF001 Cleft Lip 59 0.055
126
OTT002 Otitis Media 58 0.055
127
P ATS007 Autism Spectrum Disorder 58 0.055
128
CRD002 Cri-Du-Chat Syndrome 58 0.055
129
SMT015 Smith Magenis Syndrome 58 0.055
130
CLL003 Cellulitis 58 0.055
131
HDC001 Headache 57 0.055
132
P MYM002 Moyamoya Disease 57 0.055
133
CNG048 Congenital Hepatic Fibrosis 56 0.055
134
c MNT147 Mental Retardation 56 0.055
135
ART001 Arterial Tortuosity Syndrome 55 0.055
136
c LBR005 Leber Congenital Amaurosis 10 55 0.055
137
PNM013 Pneumococcal Meningitis 55 0.055
138
P DWR001 Dwarfism 54 0.055
139
CHL069 Cholesteatoma 54 0.055
140
CHR008 Choroiditis 53 0.055
141
RTN023 Retinitis 53 0.055
142
MCR013 Microphthalmia 53 0.055
143
AND003 Andersen-Tawil Syndrome 53 0.055
144
P OMP004 Omphalocele 52 0.055
145
BLN003 Blindness 52 0.055
146
P HYP083 Hypopituitarism 52 0.055
147
ACR012 Aicardi Syndrome 51 0.055
148
P SZR006 Seizure Disorder 50 0.055
149
c SYN001 Syndactyly 50 0.055
150
CRS005 Crest Syndrome 49 0.055
151
c INT060 Intestinal Atresia 48 0.055
152
c GRS007 Griscelli Syndrome Type 1 48 0.055
153
HDN002 Head Injury 48 0.055
154
c PRN026 Porencephaly 47 0.055
155
P ATR066 Atrial Septal Defect 2 47 0.055
156
JBR005 Joubert Syndrome with Ocular Anomalies 46 0.055
157
EVN001 Evans' Syndrome 45 0.055
158
PNH001 Panhypopituitarism 45 0.055
159
EPL002 Epilepsy Syndrome 45 0.055
160
P TRC072 Treacher Collins Syndrome 1 45 0.055
161
ARC002 Arachnoiditis 44 0.055
162
OTP005 Oto-Palato-Digital Syndrome Type 2 44 0.055
163
P ORF011 Orofaciodigital Syndrome 6 41 0.055
164
SML028 Semilobar Holoprosencephaly 39 0.055
165
JBR007 Joubert Syndrome with Renal Anomalies 38 0.055
166
DXT002 Dextrocardia with Situs Inversus 37 0.055
167
CLB003 Coloboma of Optic Nerve 37 0.055
168
PNT005 Pentalogy of Cantrell 37 0.055
169
IMM088 Immunodeficiency 36 36 0.055
170
c ENL009 Enlarged Parietal Foramina 33 0.055
171
PNG002 Pain Agnosia 30 0.055
172
HMN017 Hemangioma Thrombocytopenia Syndrome 29 0.055
173
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.055
174
FRN022 Frontofacionasal Dysplasia 28 0.055
175
TFT003 Tufting Enteropathy 28 0.055
176
CVR002 Cavernous Sinus Thrombosis 27 0.055
177
HRT030 Hartsfield Syndrome 27 0.055
178
SBD001 Subdural Empyema 27 0.055
179
HYP085 Hypothalamic Disease 26 0.055
180
PGD001 Pagod Syndrome 24 0.055
181
c MLG036 Malignant Spiradenoma 23 0.055
182
c DST040 Distal Monosomy 13q 23 0.055
183
PTT009 Pituitary Gland Disease 22 0.055
184
c FRN033 Frontonasal Dysplasia 2 22 0.055
185
ORB007 Orbital Cyst 21 0.055
186
ANR019 Anorectal Atresia 20 0.055
187
SCH025 Schisis Association 20 0.055
188
CRN087 Craniomicromelic Syndrome 20 0.055
189
c MCK017 Meckel Syndrome 4 19 0.055
190
c SPN101 Spinocerebellar Ataxia 29 19 0.055
191
RTN123 Retinochoroidal Coloboma 18 0.055
192
NGB001 Naguib-Richieri-Costa Syndrome 18 0.055
193
SCL020 Scalp Defects Postaxial Polydactyly 16 0.055
194
AMN013 Aminopterin/methotrexate Embryofetopathy 16 0.055
195
NSL020 Nasal Glial Heterotopia 15 0.055
196
c MCK018 Meckel Syndrome 8 15 0.055
197
ACR070 Acro-Pectoro-Renal Dysplasia 14 0.055
198
c MCK021 Meckel Syndrome 9 14 0.055
199
CCN010 Cocaine Embryofetopathy 13 0.055
200
CRV058 Cervicofacial Lymphatic Malformation 13 0.055
201
P DST052 Distal 7q11.23 Microduplication Syndrome 12 0.055
202
TRP011 Triopia 11 0.055
203
EMB014 Embryonary Disorganization Syndrome 9 0.055
204
AND002 Androgen Insensitivity Syndrome 80 0.039
205
BRK003 Burkitt's Lymphoma 77 0.039
206
P WGN002 Wegener's Granulomatosis 73 0.039
207
c PRM002 Primary Hyperoxaluria 73 0.039
208
c AXN002 Axenfeld-Rieger Syndrome 69 0.039
209
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.039
210
DRM014 Dermatofibrosarcoma Protuberans 68 0.039
211
ACR015 Acrocephalosyndactylia 66 0.039
212
STT001 Status Epilepticus 65 0.039
213
BRN028 Brain Cancer 64 0.039
214
RBR001 Roberts Syndrome 63 0.039
215
PRT092 Partial Androgen Insensitivity Syndrome 63 0.039
216
c OST110 Osteogenesis Imperfecta, Type Xv 62 0.039
217
P THN004 Thanatophoric Dysplasia Type 1 60 0.039
218
MYC002 Mycobacterium Avium Complex Disease 58 0.039
219
c BRD014 Bardet-Biedl Syndrome 2 57 0.039
220
INC001 Incontinentia Pigmenti Achromians 56 0.039
221
LMT001 Limited Scleroderma 56 0.039
222
PSD002 Pseudotumor Cerebri 56 0.039
223
CYS002 Cystic Lymphangioma 56 0.039
224
P EHL049 Ehlers-Danlos Syndrome Classical Type 55 0.039
225
P PND001 Pain Disorder 54 0.039
226
WLK001 Walker-Warburg Syndrome 52 0.039
227
HNT002 Hantavirus Pulmonary Syndrome 52 0.039
228
P CNT005 Central Nervous System Lymphoma 52 0.039
229
MLK003 Melkersson-Rosenthal Syndrome 51 0.039
230
GRN037 Granulomatosis with Polyangiitis 50 0.039
231
SCH016 Schimke Immunoosseous Dysplasia 48 0.039
232
c CNT035 Central Nervous System Disease 48 0.039
233
P FML084 Familial Porencephaly 47 0.039
234
ARS002 Arsacs 47 0.039
235
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 47 0.039
236
P CRN159 Craniosynostosis, Type 1 45 0.039
237
PLR007 Pleural Empyema 44 0.039
238
c JVN024 Juvenile Hereditary Hemochromatosis 44 0.039
239
CHR078 Chorioretinitis 44 0.039
240
TTR016 Tetra-Amelia Syndrome 43 0.039
241
c TRP009 Triple X Syndrome 41 0.039
242
P ATL004 Atelosteogenesis Type 1 39 0.039
243
CMB021 Combined Pituitary Hormone Deficiency 38 0.039
244
PTT021 Pituitary Hormone Deficiency, Combined 2 37 0.039
245
PLY022 Polycystic Kidney and Hepatic Disease 37 0.039
246
P PRT059 Parietal Foramina 1 37 0.039
247
c PPL025 Popliteal Pterygium Syndrome 35 0.039
248
c PLY027 Polycystic Kidney Disease, Autosomal Recessive 34 0.039
249
OCL034 Oculocerebrocutaneous Syndrome 33 0.039
250
FGF001 Fgfr-Related Craniosynostosis Syndromes 33 0.039
251
P ANP018 Anophthalmia Plus Syndrome 32 0.039
252
LMB014 Limb-Body Wall Complex 30 0.039
253
CRN051 Craniofacial Microsomia 30 0.039
254
ACL002 Acalvaria 30 0.039
255
BLC003 Bloch-Sulzberger Syndrome 27 0.039
256
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 27 0.039
257
ETH009 Ethmoid Sinusitis 26 0.039
258
c MCK009 Meckel Syndrome Type 3 25 0.039
259
c JBR031 Joubert Syndrome 21 24 0.039
260
HMR039 Hemorrhage, Intracerebral 24 0.039
261
c MCK008 Meckel Syndrome Type 2 24 0.039
262
PSD045 Pseudoprogeria Syndrome 23 0.039
263
P FRN036 Frontonasal Dysplasia 1 22 0.039
264
c BNG076 Benign Exophthalmos Syndrome 22 0.039
265
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.039
266
c LSS025 Lissencephaly 5 21 0.039
267
AND005 Androgen Insensitivity Syndrome, Mild 21 0.039
268
c JBR027 Joubert Syndrome 16 20 0.039
269
BNN003 Bone Inflammation Disease 20 0.039
270
DYS051 Dyssegmental Dysplasia Rolland-Desbuquois Type 19 0.039
271
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 19 0.039
272
CRB135 Cerebro-Oculo-Nasal Syndrome 19 0.039
273
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 19 0.039
274
c JBR024 Joubert Syndrome 14 19 0.039
275
c CNT058 Central Nervous System Lymphoma, Primary 18 0.039
276
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 17 0.039
277
OTP003 Oto-Palatal-Digital Syndrome 17 0.039
278
OCL030 Oculoauriculofrontonasal Syndrome 17 0.039
279
HYP277 Hypothalamic Hamartomas, Somatic 17 0.039
280
c PRT060 Parietal Foramina 2 15 0.039
281
c JBR011 Joubert Syndrome 7 15 0.039
282
CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 14 0.039
283
c MCK019 Meckel Syndrome 5 14 0.039
284
c MCK016 Meckel Syndrome 6 13 0.039
285
PNS014 Penis Agenesis 13 0.039
286
c MCK023 Meckel Syndrome 10 13 0.039
287
CNS011 Constriction Rings Syndrome 13 0.039
288
c MCK020 Meckel Syndrome, Type 11 13 0.039
289
CRN210 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 8 0.039