Search results for "heterotopia"

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

219 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P HTR015 Heterotopia, Periventricular 44 9.322
2
c HTR007 Heterotopia, Periventricular, Ed Variant 25 6.632
3
c FLN007 Flna-Related Periventricular Nodular Heterotopia 17 6.398
4
PRV007 Periventricular Heterotopia with Microcephaly 22 6.049
5
P SBC028 Subcortical Band Heterotopia 32 4.523
6
c LSS005 Lissencephaly 1 39 4.157
7
P PRV016 Periventricular Nodular Heterotopia 6 20 4.132
8
P LSS027 Lissencephaly, X-Linked 42 4.104
9
P BND018 Band Heterotopia 33 3.706
10
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.699
11
c PRV013 Periventricular Nodular Heterotopia 3 13 3.651
12
SBP003 Subependymal Nodular Heterotopia 11 3.279
13
c PRV014 Periventricular Nodular Heterotopia 5 14 3.172
14
NSL020 Nasal Glial Heterotopia 11 2.768
15
DCX001 Dcx-Related Disorders 16 2.605
16
HRD055 Hereditary Nodular Heterotopia 3 1.932
17
NDL022 Nodular Neuronal Heterotopia 9 1.893
18
c FML049 Familial Band Heterotopia 3 1.893
19
MRG004 Marginal Glioneuronal Heterotopia 2 1.893
20
c DCX003 Dcx-Related Subcortical Band Heterotopia 4 1.870
21
SBC038 Sub-Cortical Nodular Heterotopia 4 1.870
22
17L003 17-Linked Subcortical Band Heterotopia 2 1.870
23
CHR457 Chromosome 17p13.1 Deletion Syndrome 17 1.806
24
P EPL164 Epilepsy 66 0.250
25
NRN002 Neuronitis 42 0.222
26
P LSS002 Lissencephaly 49 0.218
27
CRB009 Cerebritis 38 0.163
28
PLY024 Polymicrogyria 36 0.157
29
P ENC008 Encephalocele 47 0.138
30
P EHL001 Ehlers-Danlos Syndrome 61 0.131
31
NRN016 Neuronal Migration Disorders 42 0.131
32
PCH002 Pachygyria 36 0.115
33
P MCR010 Microcephaly 58 0.107
34
P GLM045 Glioma 58 0.097
35
MGL013 Megalencephaly 51 0.097
36
P AST007 Astrocytoma 65 0.087
37
WST001 West Syndrome 61 0.087
38
P PNC044 Pancreatitis 60 0.087
39
ALR002 Al-Raqad Syndrome 36 0.087
40
P BRT040 Baraitser-Winter Syndrome 31 0.087
41
P HYD006 Hydrocephalus 67 0.075
42
P HLP001 Holoprosencephaly 62 0.075
43
P THN009 Thanatophoric Dysplasia, Type I 62 0.075
44
CHL067 Cholecystitis 56 0.075
45
P THY032 Thyroiditis 54 0.075
46
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.075
47
P INT063 Intellectual Disability 53 0.075
48
P MNN007 Meningocele 36 0.075
49
CHD004 Chudley-Mccullough Syndrome 34 0.075
50
c LSS025 Lissencephaly 5 22 0.075
51
6QT002 6q Terminal Deletion Syndrome 14 0.075
52
P ADN016 Adenocarcinoma 69 0.062
53
P FRG001 Fragile X Syndrome 68 0.062
54
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.062
55
P PLC011 Pilocytic Astrocytoma 58 0.062
56
ANR040 Aneurysm 57 0.062
57
P SZR006 Seizure Disorder 57 0.062
58
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.062
59
TMP001 Temporal Lobe Epilepsy 51 0.062
60
HMG002 Hemoglobinuria 49 0.062
61
LPM005 Lipomatosis 47 0.062
62
HMM003 Hemimegalencephaly 45 0.062
63
P CRV039 Cervicitis 44 0.062
64
DDN006 Duodenitis 44 0.062
65
VCS001 Vici Syndrome 44 0.062
66
HYP691 Hypomelanosis of Ito 42 0.062
67
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.062
68
ALB014 Alobar Holoprosencephaly 34 0.062
69
c LSS009 Lissencephaly 3 24 0.062
70
VNM003 Van Maldergem Syndrome 1 20 0.062
71
VNM002 Van Maldergem Syndrome 2 19 0.062
72
P RTN008 Retinitis Pigmentosa 79 0.044
73
P APL001 Aplastic Anemia 73 0.044
74
P HPT021 Hepatitis 70 0.044
75
ART016 Aortic Aneurysm 67 0.044
76
SMT004 Smith-Lemli-Opitz Syndrome 67 0.044
77
P MNN013 Meningitis 65 0.044
78
P CRN037 Craniosynostosis 65 0.044
79
c BSL007 Basal Cell Carcinoma 64 0.044
80
P DYS154 Dystonia 64 0.044
81
LNG099 Lung Disease 62 0.044
82
P ESP024 Esophagitis 62 0.044
83
P HMN010 Hemangioma 60 0.044
84
P SNS014 Sinusitis 60 0.044
85
c ATM010 Autoimmune Hemolytic Anemia 60 0.044
86
INC021 Incontinentia Pigmenti 60 0.044
87
P CTS001 Cutis Laxa 59 0.044
88
MCR013 Microphthalmia 59 0.044
89
P CNG015 Congenital Diaphragmatic Hernia 58 0.044
90
P GST044 Gastritis 58 0.044
91
P CTR002 Cataract 57 0.044
92
CNS004 Constipation 57 0.044
93
P BCK002 Beckwith-Wiedemann Syndrome 56 0.044
94
P HYP076 Hyperthyroidism 56 0.044
95
P CHL002 Childhood Absence Epilepsy 56 0.044
96
PRT093 Proteus Syndrome, Somatic 55 0.044
97
LYM027 Lymphopenia 54 0.044
98
FCL009 Focal Dermal Hypoplasia 54 0.044
99
HDC001 Headache 54 0.044
100
HMP005 Hemiplegia 54 0.044
101
ACH005 Achalasia 54 0.044
102
P STR020 Strabismus 53 0.044
103
P PTN002 Patent Ductus Arteriosus 52 0.044
104
ANN002 Anencephaly 52 0.044
105
P MSC003 Muscular Atrophy 51 0.044
106
LRN003 Learning Disability 51 0.044
107
SMT008 Smith-Magenis Syndrome 51 0.044
108
HPT074 Hepatic Adenoma, Somatic 51 0.044
109
P SCH018 Schizencephaly 51 0.044
110
PNN001 Panniculitis 50 0.044
111
FCS012 Facioscapulohumeral Muscular Dystrophy 1 50 0.044
112
SPR099 Supravalvar Aortic Stenosis 49 0.044
113
CHN055 Chanarin-Dorfman Syndrome 49 0.044
114
PTS001 Patau Syndrome 49 0.044
115
RTN023 Retinitis 49 0.044
116
KBG001 Kbg Syndrome 49 0.044
117
P LFT003 Left Ventricular Noncompaction 49 0.044
118
ILT001 Ileitis 49 0.044
119
RTC005 Reticulosarcoma 48 0.044
120
GRW007 Growth Hormone Deficiency 48 0.044
121
P SHR001 Short Bowel Syndrome 48 0.044
122
CMR002 Coumarin Resistance 48 0.044
123
c CNG411 Congenital Disorder of Glycosylation, Type in 48 0.044
124
JCB001 Jacobsen Syndrome 48 0.044
125
P APL006 Aplasia Cutis Congenita 48 0.044
126
CRD002 Cri-Du-Chat Syndrome 48 0.044
127
CRB045 Cerebellar Hypoplasia 48 0.044
128
BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 48 0.044
129
ECT006 Ectodermal Dysplasia 47 0.044
130
ZLL002 Zollinger-Ellison Syndrome 47 0.044
131
NTR003 Natural Killer Cell Leukemia 47 0.044
132
SKL014 Skeletal Dysplasia 46 0.044
133
PPL049 Papillon-Lefevre Syndrome 46 0.044
134
c CNG206 Congenital Disorder of Glycosylation, Type Ie 46 0.044
135
LYM051 Lymphomatoid Granulomatosis 46 0.044
136
c ORF037 Orofaciodigital Syndrome I 46 0.044
137
P HYD011 Hydrolethalus Syndrome 45 0.044
138
VSC047 Vascular Malformation 45 0.044
139
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.044
140
ACR012 Aicardi Syndrome 45 0.044
141
CHL056 Cheilitis 45 0.044
142
MLL018 Miller-Dieker Lissencephaly Syndrome 45 0.044
143
SKL017 Skeletal Dysplasias 45 0.044
144
PRP036 Peripheral T-Cell Lymphoma 45 0.044
145
CHR008 Choroiditis 43 0.044
146
CHR276 Chronic Active Epstein-Barr Virus Infection 43 0.044
147
LCH009 Lichen Sclerosus 42 0.044
148
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 41 0.044
149
LYM052 Lymphomatoid Papulosis 41 0.044
150
HPT070 Hepatosplenic T-Cell Lymphoma 41 0.044
151
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 41 0.044
152
TCL002 T-Cell Large Granular Lymphocyte Leukemia 41 0.044
153
GRD001 Giardiasis 40 0.044
154
ACT093 Actinic Cheilitis 40 0.044
155
LNG013 Lung Lymphoma 40 0.044
156
c CNG031 Congenital Nervous System Abnormality 39 0.044
157
P DYS005 Dyslexia 39 0.044
158
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 39 0.044
159
EXT022 Exotropia 39 0.044
160
GNT031 Genitopatellar Syndrome 39 0.044
161
MLN001 Melanotic Neuroectodermal Tumor 38 0.044
162
ARC007 Arachnoid Cysts 38 0.044
163
P FRN012 Frontometaphyseal Dysplasia 38 0.044
164
LTH001 Lethal Midline Granuloma 38 0.044
165
c CHR579 Chiari Malformation Type Ii 38 0.044
166
ARC002 Arachnoiditis 38 0.044
167
P CMM008 Communicating Hydrocephalus 37 0.044
168
MCK002 Meckel's Diverticulum 36 0.044
169
P PRS013 Prosopagnosia 36 0.044
170
TTR016 Tetra-Amelia Syndrome 36 0.044
171
BHR002 Bohring-Opitz Syndrome 36 0.044
172
c CNG413 Congenital Short Bowel Syndrome 36 0.044
173
OBS004 Obstructive Hydrocephalus 35 0.044
174
MLN014 Melnick-Needles Syndrome 35 0.044
175
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.044
176
CMP001 Composite Lymphoma 35 0.044
177
CRB029 Cerebellopontine Angle Tumor 35 0.044
178
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 35 0.044
179
NCR003 Necrotizing Sialometaplasia 34 0.044
180
HYP231 Hypothalamic Hamartomas 34 0.044
181
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 34 0.044
182
c BRT038 Baraitser-Winter Syndrome 1 34 0.044
183
RHN003 Rhinosporidiosis 33 0.044
184
BLR005 Biliary Papillomatosis 33 0.044
185
MST019 Mastoiditis 33 0.044
186
c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 33 0.044
187
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 33 0.044
188
OPT054 Opitz-Kaveggia Syndrome 32 0.044
189
LYM015 Lymphocytic Gastritis 32 0.044
190
P CRB059 Cerebellar Degeneration 32 0.044
191
c CTS008 Cutis Laxa, Autosomal Dominant 32 0.044
192
CHR076 Choriocarcinoma of the Testis 31 0.044
193
ORB009 Orbit Lymphoma 30 0.044
194
MDD015 Mid-Dermal Elastolysis 28 0.044
195
P ATX010 Ataxia Neuropathy Spectrum 28 0.044
196
OCL034 Oculocerebrocutaneous Syndrome 28 0.044
197
INF005 Infiltrating Lipoma 27 0.044
198
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 27 0.044
199
c ACQ027 Acquired Cutis Laxa 26 0.044
200
c VRL006 Viral Esophagitis 26 0.044
201
NRN022 Neurenteric Cyst 26 0.044
202
c CTS019 Cutis Laxa, Ad 26 0.044
203
AMN009 Amniotic Band Syndrome 25 0.044
204
HNM002 Hinman Syndrome 25 0.044
205
c RNG022 Ring Chromosome 6 24 0.044
206
DND005 Dandy-Walker Complex 23 0.044
207
MYL044 Myelocystocele 22 0.044
208
PLY110 Polymicrogyria, Bilateral Temporooccipital 22 0.044
209
PHC004 Phace Syndrome 21 0.044
210
SLT007 Solitary Rectal Ulcer Syndrome 20 0.044
211
16Q001 16q24.3 Microdeletion Syndrome 19 0.044
212
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 19 0.044
213
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.044
214
PRS035 Parasitic Ichthyosporea Infectious Disease 18 0.044
215
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.044
216
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 17 0.044
217
LMB013 Limb Reduction Defect 17 0.044
218
c FBL003 Fbln5-Related Cutis Laxa 16 0.044
219
AND005 Androgen Insensitivity Syndrome, Mild 16 0.044