Search results for "heterotopia"

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

268 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 46 7.932
2
c HTR007 Heterotopia, Periventricular, Ed Variant 30 6.627
3
c FLN007 Flna-Related Periventricular Nodular Heterotopia 20 6.399
4
PRV007 Periventricular Heterotopia with Microcephaly 24 6.036
5
P HTR015 Heterotopia, Periventricular 25 5.283
6
P SBC028 Subcortical Band Heterotopia 34 4.502
7
c PRV016 Periventricular Nodular Heterotopia 6 20 4.125
8
c LSS005 Lissencephaly 1 44 3.730
9
P LSS027 Lissencephaly, X-Linked 42 3.681
10
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.681
11
c PRV013 Periventricular Nodular Heterotopia 3 14 3.637
12
SBP003 Subependymal Nodular Heterotopia 11 3.258
13
c PRV014 Periventricular Nodular Heterotopia 5 15 3.159
14
NSL020 Nasal Glial Heterotopia 12 2.745
15
DCX001 Dcx-Related Disorders 17 2.593
16
HRD055 Hereditary Nodular Heterotopia 3 1.917
17
NDL022 Nodular Neuronal Heterotopia 10 1.881
18
FML049 Familial Band Heterotopia 2 1.881
19
MRG004 Marginal Glioneuronal Heterotopia 1 1.881
20
SBC038 Sub-Cortical Nodular Heterotopia 5 1.859
21
c DCX003 Dcx-Related Subcortical Band Heterotopia 4 1.859
22
17L003 17-Linked Subcortical Band Heterotopia 2 1.859
23
CHR457 Chromosome 17p13.1 Deletion Syndrome 18 1.800
24
P EPL164 Epilepsy 60 0.246
25
NRN002 Neuronitis 40 0.239
26
P LSS002 Lissencephaly 48 0.214
27
CRB009 Cerebritis 36 0.181
28
P ENC008 Encephalocele 48 0.151
29
ALR002 Al-Raqad Syndrome 36 0.151
30
PLY024 Polymicrogyria 34 0.151
31
P EHL001 Ehlers-Danlos Syndrome 61 0.146
32
NRN016 Neuronal Migration Disorders 41 0.146
33
P MCR010 Microcephaly 60 0.114
34
PCH002 Pachygyria 39 0.107
35
WST001 West Syndrome 61 0.099
36
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.099
37
c KNB004 Knobloch Syndrome, Type 1 31 0.099
38
P SYN001 Syndactyly 49 0.099
39
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.099
40
P INT063 Intellectual Disability 46 0.099
41
MGL013 Megalencephaly 50 0.099
42
P GLM045 Glioma 53 0.099
43
P HYD006 Hydrocephalus 68 0.090
44
MLN014 Melnick-Needles Syndrome 38 0.090
45
FRN012 Frontometaphyseal Dysplasia 37 0.090
46
P AST007 Astrocytoma 66 0.090
47
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 59 0.081
48
P PNC044 Pancreatitis 62 0.081
49
P BRT040 Baraitser-Winter Syndrome 33 0.081
50
HMG002 Hemoglobinuria 49 0.081
51
TMP001 Temporal Lobe Epilepsy 47 0.081
52
P MNN007 Meningocele 37 0.081
53
P THN009 Thanatophoric Dysplasia, Type I 62 0.070
54
P TBR001 Tuberous Sclerosis 68 0.070
55
P DYS154 Dystonia 62 0.070
56
SMT008 Smith-Magenis Syndrome 49 0.070
57
JCB001 Jacobsen Syndrome 49 0.070
58
KBG001 Kbg Syndrome 50 0.070
59
CHD004 Chudley-Mccullough Syndrome 32 0.070
60
CHL067 Cholecystitis 57 0.070
61
P CHL002 Childhood Absence Epilepsy 54 0.070
62
P CRN037 Craniosynostosis 66 0.070
63
P HLP001 Holoprosencephaly 62 0.070
64
c LSS025 Lissencephaly 5 23 0.070
65
P HYP076 Hyperthyroidism 59 0.070
66
P LFT003 Left Ventricular Noncompaction 48 0.070
67
HMP005 Hemiplegia 52 0.070
68
CRB045 Cerebellar Hypoplasia 47 0.070
69
LNG099 Lung Disease 63 0.070
70
ARC007 Arachnoid Cysts 39 0.070
71
CNS004 Constipation 57 0.070
72
LRN003 Learning Disability 49 0.070
73
ARC002 Arachnoiditis 38 0.070
74
P THY032 Thyroiditis 57 0.070
75
HDC001 Headache 52 0.070
76
P CMM008 Communicating Hydrocephalus 31 0.070
77
ANR040 Aneurysm 56 0.070
78
AMN009 Amniotic Band Syndrome 26 0.070
79
P CRV039 Cervicitis 45 0.070
80
OBS004 Obstructive Hydrocephalus 33 0.070
81
6QT002 6q Terminal Deletion Syndrome 15 0.070
82
LMB013 Limb Reduction Defect 14 0.070
83
P FRG001 Fragile X Syndrome 68 0.057
84
c CNG206 Congenital Disorder of Glycosylation, Type Ie 49 0.057
85
P EHL033 Ehlers-Danlos Syndrome, Classic Type 55 0.057
86
P APL001 Aplastic Anemia 74 0.057
87
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.057
88
c LNG044 Long Qt Syndrome 1 59 0.057
89
P JRV003 Jervell and Lange-Nielsen Syndrome 53 0.057
90
P SZR006 Seizure Disorder 56 0.057
91
CLF027 Cleft Palate, Isolated 56 0.057
92
SPR099 Supravalvar Aortic Stenosis 49 0.057
93
P STR020 Strabismus 55 0.057
94
CHN055 Chanarin-Dorfman Syndrome 48 0.057
95
c CNG411 Congenital Disorder of Glycosylation, Type in 46 0.057
96
INT111 Intestinal Pseudoobstruction, Neuronal 31 0.057
97
c OTP007 Otopalatodigital Syndrome, Type Ii 39 0.057
98
FCS012 Facioscapulohumeral Muscular Dystrophy 1 50 0.057
99
ART016 Aortic Aneurysm 67 0.057
100
P ERY008 Erythromelalgia 50 0.057
101
c OTP006 Otopalatodigital Syndrome, Type I 36 0.057
102
VCS001 Vici Syndrome 50 0.057
103
P TMT001 Timothy Syndrome 58 0.057
104
P SDD001 Sudden Infant Death Syndrome 60 0.057
105
c FML001 Familial Atrial Fibrillation 59 0.057
106
P CRD017 Cardiac Valvular Dysplasia, X-Linked 32 0.057
107
CMR002 Coumarin Resistance 49 0.057
108
PRX015 Paroxysmal Extreme Pain Disorder 44 0.057
109
NXS001 Naxos Disease 46 0.057
110
PPL049 Papillon-Lefevre Syndrome 45 0.057
111
P GLM040 Glioma Susceptibility 1 46 0.057
112
c LNG050 Long Qt Syndrome 5 43 0.057
113
SPT006 Septooptic Dysplasia 36 0.057
114
P FRN036 Frontonasal Dysplasia 1 31 0.057
115
P LNG028 Long Qt Syndrome 67 0.057
116
P BRG001 Brugada Syndrome 59 0.057
117
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 40 0.057
118
P ATR011 Atrial Fibrillation 63 0.057
119
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 27 0.057
120
c ATM010 Autoimmune Hemolytic Anemia 59 0.057
121
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 27 0.057
122
P MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.057
123
CHR523 Chromosome 15q11.2 Deletion Syndrome 23 0.057
124
TRM011 Terminal Osseous Dysplasia 39 0.057
125
c LSS009 Lissencephaly 3 23 0.057
126
HYP691 Hypomelanosis of Ito 44 0.057
127
c BRG005 Brugada Syndrome 1 42 0.057
128
c BRG007 Brugada Syndrome 5 37 0.057
129
P CTS001 Cutis Laxa 57 0.057
130
c FML250 Familial Progressive Cardiac Conduction Defect 32 0.057
131
HPT074 Hepatic Adenoma, Somatic 35 0.057
132
P ANP001 Anaplastic Large Cell Lymphoma 58 0.057
133
P SNS014 Sinusitis 66 0.057
134
FGS002 Fg Syndrome 2 29 0.057
135
P ATR001 Atrioventricular Septal Defect 52 0.057
136
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 45 0.057
137
P PLC011 Pilocytic Astrocytoma 59 0.057
138
NTR003 Natural Killer Cell Leukemia 46 0.057
139
PTN002 Patent Ductus Arteriosus 50 0.057
140
ILM001 Ileum Cancer 35 0.057
141
c BRG006 Brugada Syndrome 2 31 0.057
142
HRT008 Heart Conduction Disease 43 0.057
143
P ADN016 Adenocarcinoma 69 0.057
144
VNM002 Van Maldergem Syndrome 2 19 0.057
145
c CNG415 Congenital Disorder of Glycosylation, Type Ia 46 0.057
146
c CTS008 Cutis Laxa, Autosomal Dominant 33 0.057
147
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 33 0.057
148
P SCK002 Sick Sinus Syndrome 49 0.057
149
VNM003 Van Maldergem Syndrome 1 26 0.057
150
GRD001 Giardiasis 40 0.057
151
PLY110 Polymicrogyria, Bilateral Temporooccipital 23 0.057
152
DND005 Dandy-Walker Complex 23 0.057
153
DDN006 Duodenitis 44 0.057
154
PNN001 Panniculitis 47 0.057
155
c CTS019 Cutis Laxa, Ad 26 0.057
156
LYM052 Lymphomatoid Papulosis 45 0.057
157
VNT011 Ventricular Fibrillation, Familial, 1 35 0.057
158
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 20 0.057
159
RTC005 Reticulosarcoma 46 0.057
160
P ALC004 Alcohol Abuse 57 0.057
161
c SHR030 Short Qt Syndrome 45 0.057
162
ATR057 Atrioventricular Block 49 0.057
163
ORB009 Orbit Lymphoma 27 0.057
164
LYM051 Lymphomatoid Granulomatosis 46 0.057
165
LCH009 Lichen Sclerosus 43 0.057
166
LTH001 Lethal Midline Granuloma 37 0.057
167
RGH001 Right Bundle Branch Block 43 0.057
168
c JVN024 Juvenile Hereditary Hemochromatosis 30 0.057
169
THR099 Third-Degree Atrioventricular Block 31 0.057
170
ISL010 Isolated 17-Linked Lissencephaly 15 0.057
171
RHN003 Rhinosporidiosis 35 0.057
172
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 32 0.057
173
c FML191 Familial Long Qt Syndrome 39 0.057
174
CHR276 Chronic Active Epstein-Barr Virus Infection 45 0.057
175
SDD007 Sudden Cardiac Death 46 0.057
176
CMP001 Composite Lymphoma 35 0.057
177
PRP036 Peripheral T-Cell Lymphoma 44 0.057
178
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 41 0.057
179
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 39 0.057
180
NCR003 Necrotizing Sialometaplasia 35 0.057
181
SYN036 Syncope 45 0.057
182
LNG013 Lung Lymphoma 40 0.057
183
SNT005 Sinoatrial Node Disease 34 0.057
184
c FML272 Familial Sick Sinus Syndrome 30 0.057
185
c ACQ027 Acquired Cutis Laxa 27 0.057
186
HPT070 Hepatosplenic T-Cell Lymphoma 40 0.057
187
OTP003 Oto-Palatal-Digital Syndrome 14 0.057
188
INF005 Infiltrating Lipoma 28 0.057
189
c CNG031 Congenital Nervous System Abnormality 39 0.057
190
CHR076 Choriocarcinoma of the Testis 31 0.057
191
LYM015 Lymphocytic Gastritis 31 0.057
192
c BNG076 Benign Exophthalmos Syndrome 15 0.057
193
LYM023 Lymphatic System Cancer 35 0.057
194
ALB014 Alobar Holoprosencephaly 35 0.057
195
c FML294 Familial Short Qt Syndrome 24 0.057
196
PRS035 Parasitic Ichthyosporea Infectious Disease 19 0.057
197
MDD015 Mid-Dermal Elastolysis 29 0.057
198
c SPN247 Spinocerebellar Ataxia Type 19/22 18 0.057
199
c FBL003 Fbln5-Related Cutis Laxa 17 0.057
200
SMT004 Smith-Lemli-Opitz Syndrome 66 0.040
201
P BCK002 Beckwith-Wiedemann Syndrome 56 0.040
202
CRD002 Cri-Du-Chat Syndrome 48 0.040
203
INC021 Incontinentia Pigmenti 57 0.040
204
FCL009 Focal Dermal Hypoplasia 52 0.040
205
PRT093 Proteus Syndrome, Somatic 54 0.040
206
P ZLL001 Zellweger Syndrome 49 0.040
207
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.040
208
P RTN008 Retinitis Pigmentosa 78 0.040
209
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 34 0.040
210
P HPT021 Hepatitis 74 0.040
211
ZLL002 Zollinger-Ellison Syndrome 49 0.040
212
MCR013 Microphthalmia 57 0.040
213
ACR012 Aicardi Syndrome 45 0.040
214
P HYD011 Hydrolethalus Syndrome 46 0.040
215
GNT031 Genitopatellar Syndrome 41 0.040
216
P CNG015 Congenital Diaphragmatic Hernia 58 0.040
217
P GST044 Gastritis 64 0.040
218
BHR002 Bohring-Opitz Syndrome 35 0.040
219
ACH005 Achalasia 55 0.040
220
PTS001 Patau Syndrome 49 0.040
221
c ORF037 Orofaciodigital Syndrome I 43 0.040
222
OPT054 Opitz-Kaveggia Syndrome 29 0.040
223
P SCH018 Schizencephaly 51 0.040
224
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30 0.040
225
c CHR579 Chiari Malformation Type Ii 38 0.040
226
c BRT038 Baraitser-Winter Syndrome 1 30 0.040
227
P HMN010 Hemangioma 62 0.040
228
ANN002 Anencephaly 50 0.040
229
c BSL007 Basal Cell Carcinoma 66 0.040
230
OCL034 Oculocerebrocutaneous Syndrome 29 0.040
231
P MNN013 Meningitis 66 0.040
232
c CNG413 Congenital Short Bowel Syndrome 34 0.040
233
P ESP024 Esophagitis 62 0.040
234
c PRX059 Peroxisome Biogenesis Disorder 1a 27 0.040
235
MCK002 Meckel's Diverticulum 36 0.040
236
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 18 0.040
237
HMM003 Hemimegalencephaly 47 0.040
238
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.040
239
P CTR002 Cataract 57 0.040
240
CHL056 Cheilitis 48 0.040
241
P MSC003 Muscular Atrophy 51 0.040
242
P APL006 Aplasia Cutis Congenita 48 0.040
243
EXT022 Exotropia 37 0.040
244
P SHR001 Short Bowel Syndrome 51 0.040
245
P DYS005 Dyslexia 38 0.040
246
MST019 Mastoiditis 31 0.040
247
P PRS013 Prosopagnosia 40 0.040
248
c RNG022 Ring Chromosome 6 23 0.040
249
ILT001 Ileitis 48 0.040
250
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.040
251
LPM005 Lipomatosis 46 0.040
252
PHC004 Phace Syndrome 22 0.040
253
HYP231 Hypothalamic Hamartomas 35 0.040
254
16Q001 16q24.3 Microdeletion Syndrome 22 0.040
255
SKL014 Skeletal Dysplasia 44 0.040
256
MLN001 Melanotic Neuroectodermal Tumor 41 0.040
257
ACT093 Actinic Cheilitis 38 0.040
258
CHR008 Choroiditis 43 0.040
259
BLR005 Biliary Papillomatosis 34 0.040
260
MYL044 Myelocystocele 21 0.040
261
RTN023 Retinitis 49 0.040
262
ECT006 Ectodermal Dysplasia 46 0.040
263
CRB029 Cerebellopontine Angle Tumor 33 0.040
264
P CRB059 Cerebellar Degeneration 30 0.040
265
SKL017 Skeletal Dysplasias 41 0.040
266
NRN022 Neurenteric Cyst 27 0.040
267
SLT007 Solitary Rectal Ulcer Syndrome 19 0.040
268
VSC047 Vascular Malformation 45 0.040