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

258 hits were found for 'heterotopia'

# ++ Fam MCID Name MIFTS Score
1
P PRV012 Periventricular Heterotopia 41 6.437
2
XLN016 X-Linked Periventricular Heterotopia 20 5.753
3
P PRV002 Periventricular Nodular Heterotopia 37 5.308
4
P LSS007 Lissencephaly X-Linked 41 4.226
5
SBC028 Subcortical Band Heterotopia 34 4.022
6
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 6 3.585
7
PRV009 Periventricular Heterotopia, Autosomal Recessive 11 3.567
8
c HTR007 Heterotopia, Periventricular, Ed Variant 13 3.548
9
PRV010 Periventricular Heterotopia, Ehlers-Danlos Variant 7 3.548
10
NSL020 Nasal Glial Heterotopia 10 3.215
11
SBP003 Subependymal Nodular Heterotopia 7 3.203
12
c PRV013 Periventricular Nodular Heterotopia 3 4 3.072
13
c PRV014 Periventricular Nodular Heterotopia 5 4 3.072
14
DCX003 Dcx-Related Subcortical Band Heterotopia 1 3.072
15
DCX001 Dcx-Related Disorders 9 2.732
16
SBC021 Subcortical Laminar Heterotopia 14 2.701
17
HRD055 Hereditary Nodular Heterotopia 2 2.576
18
XLN067 X-Linked Protoporphyria 13 2.557
19
SBC038 Sub-Cortical Nodular Heterotopia 2 2.535
20
FML049 Familial Band Heterotopia 0 2.535
21
MRG004 Marginal Glioneuronal Heterotopia 0 2.535
22
c PRV007 Periventricular Heterotopia with Microcephaly 4 2.509
23
c PRV016 Periventricular Nodular Heterotopia 6 3 2.509
24
17L003 17-Linked Subcortical Band Heterotopia 0 2.509
25
LMN001 Lmna-Related Dilated Cardiomyopathy 11 1.808
26
c ENC008 Encephalocele 47 0.330
27
EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 31 0.311
28
P CNG124 Congenital Rubella 51 0.280
29
c FRN023 Frontonasal Dysplasia 34 0.277
30
P PCH002 Pachygyria 37 0.237
31
IDP042 Idiopathic Recurrent Stupor 15 0.218
32
FBR032 Fibromuscular Dysplasia 54 0.210
33
c LSS002 Lissencephaly 51 0.202
34
P LFT013 Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects 36 0.202
35
EHL006 Ehlers–danlos Syndrome 27 0.198
36
EPL018 Epilepsy, Childhood Absence, Susceptibility to, 2 44 0.194
37
PRX023 Paroxysmal Nocturnal Hemoglobinuria, Somatic 24 0.194
38
NSY001 N Syndrome 57 0.185
39
JCB001 Jacobsen Syndrome 49 0.180
40
ENC017 Encephaloceles 36 0.180
41
c EHL021 Ehlers-Danlos Syndrome Type Viib 50 0.175
42
P MBS002 Moebius Syndrome 45 0.175
43
MGL024 Megalencephaly, Autosomal Recessive 19 0.175
44
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 28 0.165
45
ANK002 Ankylosing Spondylitis 75 0.160
46
OCC006 Occipital Horn Syndrome 57 0.160
47
THR013 Thoracic Outlet Syndrome 53 0.160
48
EHL039 Ehlers-Danlos Syndrome, Periodontitis Type 23 0.160
49
c EHL016 Ehlers-Danlos Syndrome Type 5 11 0.160
50
P ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 34 0.154
51
ACN002 Acanthosis Nigricans 70 0.143
52
PRX003 Paroxysmal Nocturnal Hemoglobinuria 55 0.143
53
CRB009 Cerebritis 46 0.143
54
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44 0.143
55
EHL012 Ehlers-Danlos Syndrome Dermatosparaxis Type 29 0.143
56
c EHL019 Ehlers-Danlos Syndrome Type Via 12 0.143
57
c SYN001 Syndactyly 52 0.137
58
WLL003 Williams Syndrome 50 0.137
59
P ECT006 Ectodermal Dysplasia 46 0.137
60
P PLY024 Polymicrogyria 45 0.137
61
BLT011 Bilateral Perisylvian Polymicrogyria 25 0.137
62
WST001 West Syndrome 64 0.130
63
CRK001 Cork-Handlers' Disease 28 0.130
64
P LSS005 Lissencephaly 1 42 0.124
65
CHL079 Children's Interstitial Lung Disease 39 0.124
66
OBS004 Obstructive Hydrocephalus 39 0.124
67
CRB045 Cerebellar Hypoplasia 38 0.124
68
DND005 Dandy-Walker Complex 22 0.124
69
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 18 0.124
70
P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 16 0.124
71
c EHL001 Ehlers-Danlos Syndrome 55 0.117
72
P EPL002 Epilepsy Syndrome 52 0.117
73
c CRP010 Corpus Callosum Agenesis 45 0.117
74
NRN016 Neuronal Migration Disorders 39 0.117
75
c BRT040 Baraitser-Winter Syndrome 29 0.117
76
P HYD006 Hydrocephalus 60 0.109
77
CNG008 Congenital Ichthyosiform Erythroderma 51 0.109
78
SPT014 Septo-Optic Dysplasia 59 0.101
79
MYC002 Mycobacterium Avium Complex Disease 56 0.101
80
c MNT147 Mental Retardation 51 0.101
81
SKL017 Skeletal Dysplasias 47 0.101
82
EHL010 Ehlers-Danlos Syndrome Arthrochalasia Type 33 0.101
83
c ATX010 Ataxia Neuropathy Spectrum 33 0.101
84
PTL001 Patulous Eustachian Tube 28 0.101
85
GLM037 Glioma Somatic 27 0.101
86
P TBR001 Tuberous Sclerosis 81 0.092
87
GST034 Gastroesophageal Reflux Disease 65 0.092
88
c MCR010 Microcephaly 54 0.092
89
c LFT003 Left Ventricular Noncompaction 48 0.092
90
NRN002 Neuronitis 47 0.092
91
MGL013 Megalencephaly 41 0.092
92
PRL042 Proliferating Trichilemmal Cyst 40 0.092
93
ATX002 Ataxia Telangiectasia 81 0.083
94
AND002 Androgen Insensitivity Syndrome 75 0.083
95
BRN024 Bronchitis 71 0.083
96
RLP001 Relapsing Polychondritis 66 0.083
97
P CLF002 Cleft Palate 60 0.083
98
P TMP001 Temporal Lobe Epilepsy 57 0.083
99
c AXN002 Axenfeld-Rieger Syndrome 57 0.083
100
LRN003 Learning Disability 54 0.083
101
WLL001 Williams-Beuren Syndrome 46 0.083
102
P ADR027 Adrenocortical Insufficiency 42 0.083
103
P MNN007 Meningocele 38 0.083
104
FCT013 Factor V Leiden Thrombophilia 31 0.083
105
MCR029 Micro Syndrome 31 0.083
106
MLT054 Multiple Pterygium Syndrome Escobar Type 30 0.083
107
P FRN036 Frontonasal Dysplasia 1 28 0.083
108
KBG001 Kbg Syndrome 25 0.083
109
NNS006 Non-Suppurative Otitis Media 24 0.083
110
c ICH041 Ichthyosis, Autosomal Recessive 4b 23 0.083
111
HRL001 Harlequin Type Ichthyosis 20 0.083
112
6QT001 6q Terminal Deletion 13 0.083
113
P AST007 Astrocytoma 70 0.071
114
P ANG001 Angelman Syndrome 67 0.071
115
P HMP004 Hemophilia B 66 0.071
116
ART019 Aortic Valve Stenosis 64 0.071
117
c CRN037 Craniosynostosis 62 0.071
118
PSY004 Psychotic Disorder 62 0.071
119
P HLP001 Holoprosencephaly 61 0.071
120
DSS009 Disseminated Intravascular Coagulation 59 0.071
121
HDC001 Headache 58 0.071
122
SMT015 Smith Magenis Syndrome 58 0.071
123
CHL002 Childhood Absence Epilepsy 55 0.071
124
CHL067 Cholecystitis 53 0.071
125
EHL033 Ehlers-Danlos Syndrome, Classic Type 53 0.071
126
CNS004 Constipation 50 0.071
127
c CTR002 Cataract 48 0.071
128
HMP005 Hemiplegia 47 0.071
129
XLN001 X-Linked Ichthyosis 47 0.071
130
c TYP003 Type I Ehlers-Danlos Syndrome 45 0.071
131
P CRV039 Cervicitis 41 0.071
132
MNN014 Mononeuritis 40 0.071
133
c TYP002 Type Vi Ehlers-Danlos Syndrome 40 0.071
134
SZR006 Seizure Disorder 40 0.071
135
c CTR120 Cataract, Congenital 37 0.071
136
c PTR004 Pterygium 36 0.071
137
AMN009 Amniotic Band Syndrome 34 0.071
138
DYS036 Dysequilibrium Syndrome 32 0.071
139
FRN012 Frontometaphyseal Dysplasia 32 0.071
140
P EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 32 0.071
141
c CHR253 Chromosome 5q Deletion 31 0.071
142
PSD001 Pseudobulbar Palsy 28 0.071
143
P CMM008 Communicating Hydrocephalus 27 0.071
144
c GLM039 Glomerulosclerosis, Focal Segmental, 6 24 0.071
145
JNT001 Joint Laxity, Familial 22 0.071
146
LMB013 Limb Reduction Defect 21 0.071
147
AND005 Androgen Insensitivity Syndrome, Mild 19 0.071
148
c BNG076 Benign Exophthalmos Syndrome 17 0.071
149
NSL021 Nasal Encephalocele 10 0.071
150
P CLC005 Celiac Disease 71 0.058
151
STT001 Status Epilepticus 64 0.058
152
PTN002 Patent Ductus Arteriosus 61 0.058
153
ERD001 Erdheim-Chester Disease 58 0.058
154
CNT009 Central Core Myopathy 58 0.058
155
ANR008 Aneurysm Disease 57 0.058
156
ACH005 Achalasia 57 0.058
157
c EMR001 Emery-Dreifuss Muscular Dystrophy 56 0.058
158
P SHR029 Short Syndrome 55 0.058
159
HYP458 Hyper Ige Syndrome 54 0.058
160
c MCR013 Microphthalmia 53 0.058
161
TBR022 Tuberous Sclerosis Complex 53 0.058
162
SPN020 Spondylosis 53 0.058
163
P ESP024 Esophagitis 51 0.058
164
c TRP001 Triple-a Syndrome 50 0.058
165
P THR090 Thrombocythemia 1 48 0.058
166
CNV002 Conversion Disorder 48 0.058
167
P JVN007 Juvenile Absence Epilepsy 47 0.058
168
LNN001 Lennox-Gastaut Syndrome 46 0.058
169
PYL006 Pyloric Stenosis 44 0.058
170
RCR001 Recurrent Corneal Erosion 43 0.058
171
INT063 Intellectual Disability 42 0.058
172
SCH016 Schimke Immunoosseous Dysplasia 40 0.058
173
TTR016 Tetra-Amelia Syndrome 36 0.058
174
ALB014 Alobar Holoprosencephaly 36 0.058
175
P DYS005 Dyslexia 36 0.058
176
P BRT038 Baraitser-Winter Syndrome 1 31 0.058
177
SPS005 Spastic Hemiplegia 30 0.058
178
P SLP004 Salpingo-Oophoritis 30 0.058
179
MNT014 Mental Retardation Epilepsy 26 0.058
180
CHR469 Choristoma 25 0.058
181
P FRN037 Frontal Encephalocele 19 0.058
182
RDN001 Reading Disorder 15 0.058
183
TWS001 Twist1-Related Craniosynostosis 12 0.058
184
P AMY001 Amyotrophic Lateral Sclerosis 87 0.041
185
CDS001 Cadasil 80 0.041
186
P RTN008 Retinitis Pigmentosa 76 0.041
187
RNL002 Renal Agenesis 68 0.041
188
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.041
189
P SHR002 Short Stature 64 0.041
190
BSL007 Basal Cell Carcinoma 62 0.041
191
P BCK002 Beckwith-Wiedemann Syndrome 62 0.041
192
HMN010 Hemangioma 62 0.041
193
P ADN016 Adenocarcinoma 60 0.041
194
PPL022 Papilloma 60 0.041
195
P GST044 Gastritis 59 0.041
196
P MLG068 Malignant Glioma 58 0.041
197
ZLL002 Zollinger-Ellison Syndrome 58 0.041
198
MLT074 Multiple Endocrine Neoplasia 58 0.041
199
P ZLL001 Zellweger Syndrome 57 0.041
200
P FRG001 Fragile X Syndrome 57 0.041
201
FCL009 Focal Dermal Hypoplasia 56 0.041
202
P SNS014 Sinusitis 54 0.041
203
ANN002 Anencephaly 53 0.041
204
RTN023 Retinitis 53 0.041
205
SHR001 Short Bowel Syndrome 53 0.041
206
HMG002 Hemoglobinuria 52 0.041
207
P ESN001 Eosinophilic Esophagitis 52 0.041
208
c FCL014 Focal Epilepsy 52 0.041
209
c CNT035 Central Nervous System Disease 52 0.041
210
ART001 Arterial Tortuosity Syndrome 52 0.041
211
P CNG015 Congenital Diaphragmatic Hernia 52 0.041
212
DND001 Dandy-Walker Syndrome 52 0.041
213
OST015 Osteochondrodysplasia 52 0.041
214
LPM004 Lipoma 51 0.041
215
P PLC011 Pilocytic Astrocytoma 51 0.041
216
HJD001 Hajdu-Cheney Syndrome 50 0.041
217
HMM003 Hemimegalencephaly 50 0.041
218
P NTR001 Neutral Lipid Storage Disease 49 0.041
219
c JBR001 Joubert Syndrome 49 0.041
220
CHL056 Cheilitis 49 0.041
221
SCH018 Schizencephaly 47 0.041
222
CHN015 Chondrodysplasia 46 0.041
223
PTS001 Patau Syndrome 45 0.041
224
LPM005 Lipomatosis 45 0.041
225
INT191 Intestinal Lymphangiectasia 43 0.041
226
ACT093 Actinic Cheilitis 43 0.041
227
P HYP231 Hypothalamic Hamartomas 42 0.041
228
APL006 Aplasia Cutis Congenita 41 0.041
229
GST040 Gastric Adenocarcinoma 41 0.041
230
P PRR010 Pierre Robin Sequence 39 0.041
231
INC001 Incontinentia Pigmenti Achromians 39 0.041
232
AND003 Andersen-Tawil Syndrome 39 0.041
233
MLN001 Melanotic Neuroectodermal Tumor 39 0.041
234
HTS001 Hiatus Hernia 39 0.041
235
MSS002 Mass Syndrome 37 0.041
236
HYD028 Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 37 0.041
237
c CRB059 Cerebellar Degeneration 36 0.041
238
EXT022 Exotropia 36 0.041
239
BLR005 Biliary Papillomatosis 29 0.041
240
PHC004 Phace Syndrome 29 0.041
241
c HMP017 Hemophilia a, Congenital 26 0.041
242
c CHR220 Chromosome 1p Deletion 26 0.041
243
NVS002 Nevo Syndrome 23 0.041
244
CRB029 Cerebellopontine Angle Tumor 19 0.041
245
INF005 Infiltrating Lipoma 19 0.041
246
PLY051 Polymicrogyria, Asymmetric 18 0.041
247
c KRN003 Kernicterus Due to Isoimmunization 18 0.041
248
NRN022 Neurenteric Cyst 17 0.041
249
APL008 Aplasia Cutis Congenita Intestinal Lymphangiectasia 17 0.041
250
CHD004 Chudley-Mccullough Syndrome 17 0.041
251
c CHR459 Chromosome Xp Deletion 16 0.041
252
c MCR163 Microphthalmia with Linear Skin Defects Syndrome 16 0.041
253
MYL044 Myelocystocele 13 0.041
254
c LSS025 Lissencephaly 5 11 0.041
255
VNM003 Van Maldergem Syndrome 1 11 0.041
256
VNM002 Van Maldergem Syndrome 2 8 0.041
257
c LSS008 Lissencephaly, Isolated 8 0.041
258
c CHR273 Chromosome Xp22 Deletion Syndrome 5 0.041