Search results for "heterotopia"

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

196 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 57 8.283
2
XLN016 X-Linked Periventricular Heterotopia 26 7.074
3
LSS007 Lissencephaly X-Linked 42 4.657
4
P SBC028 Subcortical Band Heterotopia 36 4.211
5
SBP003 Subependymal Nodular Heterotopia 13 3.826
6
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.747
7
HTR007 Heterotopia, Periventricular, Ed Variant 19 3.706
8
SBC021 Subcortical Laminar Heterotopia 23 3.404
9
NSL020 Nasal Glial Heterotopia 15 3.380
10
PRV009 Periventricular Heterotopia, Autosomal Recessive 11 3.209
11
PRV010 Periventricular Heterotopia, Ehlers-Danlos Variant 7 3.209
12
c PRV013 Periventricular Nodular Heterotopia 3 7 3.209
13
c PRV014 Periventricular Nodular Heterotopia 5 7 3.209
14
HRD055 Hereditary Nodular Heterotopia 3 2.695
15
FML049 Familial Band Heterotopia 2 2.649
16
MRG004 Marginal Glioneuronal Heterotopia 1 2.649
17
c PRV016 Periventricular Nodular Heterotopia 6 10 2.620
18
PRV007 Periventricular Heterotopia with Microcephaly 6 2.620
19
SBC038 Sub-Cortical Nodular Heterotopia 5 2.620
20
c DCX003 Dcx-Related Subcortical Band Heterotopia 3 2.620
21
17L003 17-Linked Subcortical Band Heterotopia 2 2.620
22
c LSS002 Lissencephaly 57 0.218
23
NRN002 Neuronitis 44 0.214
24
CRB009 Cerebritis 39 0.170
25
PLY024 Polymicrogyria 34 0.151
26
NRN016 Neuronal Migration Disorders 31 0.151
27
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.144
28
P ENC008 Encephalocele 54 0.137
29
c EHL001 Ehlers-Danlos Syndrome 64 0.129
30
PCH002 Pachygyria 42 0.129
31
SYN053 Syndromic Diarrhea 34 0.129
32
P SZR006 Seizure Disorder 51 0.121
33
WST001 West Syndrome 71 0.102
34
ACN002 Acanthosis Nigricans 63 0.102
35
MCR010 Microcephaly 53 0.102
36
MNT147 Mental Retardation 52 0.102
37
P ATX010 Ataxia Neuropathy Spectrum 43 0.102
38
P LSS005 Lissencephaly 1 40 0.102
39
AND002 Androgen Insensitivity Syndrome 80 0.091
40
P HYD006 Hydrocephalus 68 0.091
41
c AXN002 Axenfeld-Rieger Syndrome 67 0.091
42
THR013 Thoracic Outlet Syndrome 52 0.091
43
c SYN001 Syndactyly 51 0.091
44
EPL002 Epilepsy Syndrome 46 0.091
45
MGL013 Megalencephaly 45 0.091
46
P AST007 Astrocytoma 74 0.079
47
c PNC044 Pancreatitis 69 0.079
48
c HLP001 Holoprosencephaly 64 0.079
49
LRN003 Learning Disability 63 0.079
50
CHL067 Cholecystitis 61 0.079
51
TMP001 Temporal Lobe Epilepsy 59 0.079
52
SMT015 Smith Magenis Syndrome 57 0.079
53
P MNN007 Meningocele 41 0.079
54
c BRT040 Baraitser-Winter Syndrome 36 0.079
55
P TBR001 Tuberous Sclerosis 86 0.064
56
ANK002 Ankylosing Spondylitis 77 0.064
57
P FRG001 Fragile X Syndrome 76 0.064
58
P ANG001 Angelman Syndrome 70 0.064
59
c CRN037 Craniosynostosis 70 0.064
60
STT001 Status Epilepticus 66 0.064
61
ART019 Aortic Valve Stenosis 64 0.064
62
P ESP024 Esophagitis 64 0.064
63
c DYS154 Dystonia 61 0.064
64
WLL003 Williams Syndrome 61 0.064
65
JCB001 Jacobsen Syndrome 60 0.064
66
MYC002 Mycobacterium Avium Complex Disease 59 0.064
67
HDC001 Headache 58 0.064
68
P CRV039 Cervicitis 58 0.064
69
PTN002 Patent Ductus Arteriosus 57 0.064
70
c CHL002 Childhood Absence Epilepsy 56 0.064
71
P EHL049 Ehlers–danlos Syndrome Classical Type 55 0.064
72
CNS004 Constipation 54 0.064
73
HMP005 Hemiplegia 53 0.064
74
ANR040 Aneurysm 46 0.064
75
c FRN023 Frontonasal Dysplasia 44 0.064
76
c PTR004 Pterygium 43 0.064
77
OBS004 Obstructive Hydrocephalus 43 0.064
78
c LFT003 Left Ventricular Noncompaction 43 0.064
79
ALB014 Alobar Holoprosencephaly 40 0.064
80
CRB045 Cerebellar Hypoplasia 40 0.064
81
KBG001 Kbg Syndrome 38 0.064
82
FRN012 Frontometaphyseal Dysplasia 38 0.064
83
BLT011 Bilateral Perisylvian Polymicrogyria 34 0.064
84
P CMM008 Communicating Hydrocephalus 30 0.064
85
CHR469 Choristoma 28 0.064
86
AMN009 Amniotic Band Syndrome 27 0.064
87
c BNG076 Benign Exophthalmos Syndrome 22 0.064
88
LMB013 Limb Reduction Defect 22 0.064
89
AND005 Androgen Insensitivity Syndrome, Mild 21 0.064
90
P INT105 Intellectual Disability Multi-Gene Panels 16 0.064
91
P ATX002 Ataxia Telangiectasia 87 0.046
92
P RTN008 Retinitis Pigmentosa 86 0.046
93
SMT004 Smith-Lemli-Opitz Syndrome 84 0.046
94
CDS001 Cadasil 84 0.046
95
SKN016 Skin Disease 75 0.046
96
P CLC005 Celiac Disease 73 0.046
97
HYP458 Hyper Ige Syndrome 72 0.046
98
P HMN010 Hemangioma 71 0.046
99
RNL002 Renal Agenesis 70 0.046
100
CRB039 Cerebrovascular Disease 69 0.046
101
SPT014 Septo-Optic Dysplasia 69 0.046
102
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.046
103
P MLG068 Malignant Glioma 69 0.046
104
P SHR002 Short Stature 68 0.046
105
P BCK002 Beckwith-Wiedemann Syndrome 68 0.046
106
c AMY001 Amyotrophic Lateral Sclerosis 67 0.046
107
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 67 0.046
108
ERD001 Erdheim-Chester Disease 67 0.046
109
P BSL007 Basal Cell Carcinoma 67 0.046
110
P GST044 Gastritis 66 0.046
111
ZLL002 Zollinger-Ellison Syndrome 66 0.046
112
GST034 Gastroesophageal Reflux Disease 66 0.046
113
c JBR001 Joubert Syndrome 66 0.046
114
c HPT021 Hepatitis 64 0.046
115
BRR003 Barrett's Esophagus 64 0.046
116
P SCH018 Schizencephaly 61 0.046
117
XLN001 X-Linked Ichthyosis 61 0.046
118
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.046
119
SPN020 Spondylosis 60 0.046
120
P ADN016 Adenocarcinoma 59 0.046
121
c CNG015 Congenital Diaphragmatic Hernia 59 0.046
122
NRC020 Neuroectodermal Tumor 59 0.046
123
ANN002 Anencephaly 59 0.046
124
P ATR001 Atrioventricular Septal Defect 58 0.046
125
FCL009 Focal Dermal Hypoplasia 58 0.046
126
P SNS014 Sinusitis 58 0.046
127
SCN006 Secondary Syphilis 57 0.046
128
P PLC011 Pilocytic Astrocytoma 57 0.046
129
c CTR002 Cataract 57 0.046
130
CRD002 Cri-Du-Chat Syndrome 57 0.046
131
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.046
132
DDN006 Duodenitis 56 0.046
133
LPM005 Lipomatosis 56 0.046
134
P ESN001 Eosinophilic Esophagitis 55 0.046
135
HMM003 Hemimegalencephaly 55 0.046
136
NTR001 Neutral Lipid Storage Disease 55 0.046
137
INC001 Incontinentia Pigmenti Achromians 55 0.046
138
P ZLL001 Zellweger Syndrome 55 0.046
139
ART001 Arterial Tortuosity Syndrome 55 0.046
140
CHR008 Choroiditis 54 0.046
141
ACH005 Achalasia 54 0.046
142
RTN023 Retinitis 54 0.046
143
LNN001 Lennox-Gastaut Syndrome 54 0.046
144
MCR013 Microphthalmia 54 0.046
145
AND003 Andersen-Tawil Syndrome 54 0.046
146
WLL001 Williams-Beuren Syndrome 54 0.046
147
PTS001 Patau Syndrome 53 0.046
148
P JVN007 Juvenile Absence Epilepsy 53 0.046
149
MBS002 Moebius Syndrome 53 0.046
150
P CLF002 Cleft Palate 52 0.046
151
SHR001 Short Bowel Syndrome 52 0.046
152
MNN014 Mononeuritis 51 0.046
153
P EPL018 Epilepsy, Childhood Absence, Susceptibility to, 2 50 0.046
154
PYL006 Pyloric Stenosis 50 0.046
155
P APL006 Aplasia Cutis Congenita 50 0.046
156
ECT006 Ectodermal Dysplasia 49 0.046
157
MLN001 Melanotic Neuroectodermal Tumor 49 0.046
158
c CNT035 Central Nervous System Disease 49 0.046
159
c CRD099 Cardiomyopathy, Dilated, 1e 49 0.046
160
ADR027 Adrenocortical Insufficiency 49 0.046
161
HYP231 Hypothalamic Hamartomas 49 0.046
162
SCH016 Schimke Immunoosseous Dysplasia 47 0.046
163
CHN015 Chondrodysplasia 44 0.046
164
AGN013 Agenesis of the Corpus Callosum 44 0.046
165
PRR010 Pierre Robin Sequence 44 0.046
166
HTS001 Hiatus Hernia 43 0.046
167
TTR016 Tetra-Amelia Syndrome 42 0.046
168
MCK002 Meckel's Diverticulum 41 0.046
169
P BRT038 Baraitser-Winter Syndrome 1 40 0.046
170
EXT022 Exotropia 40 0.046
171
MLT054 Multiple Pterygium Syndrome Escobar Type 39 0.046
172
CHL056 Cheilitis 39 0.046
173
BLR005 Biliary Papillomatosis 36 0.046
174
SKL017 Skeletal Dysplasias 36 0.046
175
PHC004 Phace Syndrome 36 0.046
176
P DYS005 Dyslexia 35 0.046
177
c CRB059 Cerebellar Degeneration 35 0.046
178
FCT013 Factor V Leiden Thrombophilia 34 0.046
179
SPS005 Spastic Hemiplegia 33 0.046
180
FGS001 Fg Syndrome 32 0.046
181
P ATS059 Autosomal Dominant Hyper Ige Syndrome 31 0.046
182
ACT093 Actinic Cheilitis 30 0.046
183
CRK001 Cork-Handlers' Disease 29 0.046
184
DND005 Dandy-Walker Complex 27 0.046
185
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 27 0.046
186
CHD004 Chudley-Mccullough Syndrome 25 0.046
187
CRB029 Cerebellopontine Angle Tumor 25 0.046
188
VNM003 Van Maldergem Syndrome 1 24 0.046
189
c FRN037 Frontal Encephalocele 23 0.046
190
NRN022 Neurenteric Cyst 21 0.046
191
MYL044 Myelocystocele 20 0.046
192
SLT007 Solitary Rectal Ulcer Syndrome 20 0.046
193
c LSS025 Lissencephaly 5 19 0.046
194
c CNG031 Congenital Nervous System Abnormality 11 0.046
195
VNM002 Van Maldergem Syndrome 2 10 0.046
196
6QT002 6q Terminal Deletion Syndrome 9 0.046