Search results for "heterotopia"

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

194 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
XLN016 X-Linked Periventricular Heterotopia 26 6.393
2
P PRV012 Periventricular Heterotopia 46 6.189
3
P PRV002 Periventricular Nodular Heterotopia 42 5.416
4
LSS007 Lissencephaly X-Linked 42 4.162
5
P SBC028 Subcortical Band Heterotopia 35 4.102
6
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.641
7
c HTR007 Heterotopia, Periventricular, Ed Variant 19 3.599
8
PRV009 Periventricular Heterotopia, Autosomal Recessive 12 3.599
9
PRV010 Periventricular Heterotopia, Ehlers-Danlos Variant 8 3.599
10
NSL020 Nasal Glial Heterotopia 16 3.276
11
SBP003 Subependymal Nodular Heterotopia 13 3.248
12
c PRV013 Periventricular Nodular Heterotopia 3 7 3.117
13
c PRV014 Periventricular Nodular Heterotopia 5 7 3.117
14
c DCX003 Dcx-Related Subcortical Band Heterotopia 4 3.117
15
SBC021 Subcortical Laminar Heterotopia 21 2.705
16
HRD055 Hereditary Nodular Heterotopia 3 2.620
17
FML049 Familial Band Heterotopia 2 2.574
18
MRG004 Marginal Glioneuronal Heterotopia 1 2.574
19
c PRV016 Periventricular Nodular Heterotopia 6 9 2.545
20
DCX001 Dcx-Related Disorders 7 2.545
21
PRV007 Periventricular Heterotopia with Microcephaly 6 2.545
22
SBC038 Sub-Cortical Nodular Heterotopia 5 2.545
23
17L003 17-Linked Subcortical Band Heterotopia 2 2.545
24
XLN067 X-Linked Protoporphyria 23 1.800
25
c LSS002 Lissencephaly 56 0.224
26
NRN002 Neuronitis 43 0.220
27
CRB009 Cerebritis 39 0.177
28
PLY024 Polymicrogyria 39 0.152
29
NRN016 Neuronal Migration Disorders 31 0.152
30
P ENC008 Encephalocele 52 0.137
31
PCH002 Pachygyria 42 0.137
32
ENC017 Encephaloceles 42 0.137
33
SYN053 Syndromic Diarrhea 32 0.137
34
c EHL001 Ehlers-Danlos Syndrome 63 0.129
35
ACN002 Acanthosis Nigricans 69 0.112
36
WST001 West Syndrome 62 0.112
37
MNT147 Mental Retardation 51 0.112
38
P ATX010 Ataxia Neuropathy Spectrum 41 0.112
39
P LSS005 Lissencephaly 1 39 0.112
40
P HYD006 Hydrocephalus 68 0.102
41
MCR010 Microcephaly 54 0.102
42
THR013 Thoracic Outlet Syndrome 52 0.102
43
EPL002 Epilepsy Syndrome 45 0.102
44
AND002 Androgen Insensitivity Syndrome 80 0.092
45
c AXN002 Axenfeld-Rieger Syndrome 66 0.092
46
c SYN001 Syndactyly 50 0.092
47
MGL013 Megalencephaly 45 0.092
48
c BRT040 Baraitser-Winter Syndrome 34 0.092
49
ANK002 Ankylosing Spondylitis 74 0.079
50
P AST007 Astrocytoma 71 0.079
51
P ANG001 Angelman Syndrome 70 0.079
52
c PNC044 Pancreatitis 69 0.079
53
P HLP001 Holoprosencephaly 64 0.079
54
ART019 Aortic Valve Stenosis 64 0.079
55
LRN003 Learning Disability 62 0.079
56
c TMP001 Temporal Lobe Epilepsy 62 0.079
57
CHL067 Cholecystitis 60 0.079
58
MYC002 Mycobacterium Avium Complex Disease 58 0.079
59
P EHL049 Ehlers–danlos Syndrome Classical Type 53 0.079
60
ANR040 Aneurysm 44 0.079
61
P MNN007 Meningocele 40 0.079
62
c BNG076 Benign Exophthalmos Syndrome 22 0.079
63
AND005 Androgen Insensitivity Syndrome, Mild 21 0.079
64
P TBR001 Tuberous Sclerosis 85 0.065
65
P FRG001 Fragile X Syndrome 73 0.065
66
c CRN037 Craniosynostosis 70 0.065
67
STT001 Status Epilepticus 65 0.065
68
P ESP024 Esophagitis 63 0.065
69
WLL003 Williams Syndrome 60 0.065
70
JCB001 Jacobsen Syndrome 59 0.065
71
HDC001 Headache 58 0.065
72
P CRV039 Cervicitis 57 0.065
73
PTN002 Patent Ductus Arteriosus 57 0.065
74
c CTR002 Cataract 57 0.065
75
SMT015 Smith Magenis Syndrome 56 0.065
76
c CHL002 Childhood Absence Epilepsy 54 0.065
77
CNS004 Constipation 53 0.065
78
P FRN023 Frontonasal Dysplasia 51 0.065
79
P INT063 Intellectual Disability 50 0.065
80
ECT006 Ectodermal Dysplasia 49 0.065
81
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 47 0.065
82
SCH016 Schimke Immunoosseous Dysplasia 46 0.065
83
c PTR004 Pterygium 43 0.065
84
OBS004 Obstructive Hydrocephalus 43 0.065
85
P SZR006 Seizure Disorder 43 0.065
86
c LFT003 Left Ventricular Noncompaction 43 0.065
87
TTR016 Tetra-Amelia Syndrome 41 0.065
88
ALB014 Alobar Holoprosencephaly 41 0.065
89
P BRT038 Baraitser-Winter Syndrome 1 40 0.065
90
CRB045 Cerebellar Hypoplasia 39 0.065
91
SKL017 Skeletal Dysplasias 39 0.065
92
KBG001 Kbg Syndrome 38 0.065
93
FRN012 Frontometaphyseal Dysplasia 37 0.065
94
AMN009 Amniotic Band Syndrome 37 0.065
95
P DYS005 Dyslexia 35 0.065
96
BLT011 Bilateral Perisylvian Polymicrogyria 34 0.065
97
P CMM008 Communicating Hydrocephalus 30 0.065
98
CHR469 Choristoma 28 0.065
99
LMB013 Limb Reduction Defect 21 0.065
100
6QT002 6q Terminal Deletion Syndrome 9 0.065
101
P AMY001 Amyotrophic Lateral Sclerosis 98 0.046
102
P ATX002 Ataxia Telangiectasia 86 0.046
103
CDS001 Cadasil 84 0.046
104
P RTN008 Retinitis Pigmentosa 80 0.046
105
SKN016 Skin Disease 75 0.046
106
P CLC005 Celiac Disease 74 0.046
107
HYP458 Hyper Ige Syndrome 71 0.046
108
RNL002 Renal Agenesis 70 0.046
109
P HMN010 Hemangioma 70 0.046
110
SPT014 Septo-Optic Dysplasia 68 0.046
111
P MLG068 Malignant Glioma 68 0.046
112
P BCK002 Beckwith-Wiedemann Syndrome 67 0.046
113
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.046
114
ERD001 Erdheim-Chester Disease 66 0.046
115
P GST044 Gastritis 66 0.046
116
ZLL002 Zollinger-Ellison Syndrome 65 0.046
117
c HPT021 Hepatitis 64 0.046
118
GST034 Gastroesophageal Reflux Disease 64 0.046
119
P SHR002 Short Stature 64 0.046
120
CRB039 Cerebrovascular Disease 64 0.046
121
P BSL007 Basal Cell Carcinoma 63 0.046
122
P SCH018 Schizencephaly 61 0.046
123
XLN001 X-Linked Ichthyosis 60 0.046
124
SPN020 Spondylosis 59 0.046
125
NTR001 Neutral Lipid Storage Disease 59 0.046
126
ANN002 Anencephaly 58 0.046
127
c CNG015 Congenital Diaphragmatic Hernia 58 0.046
128
P ADN016 Adenocarcinoma 58 0.046
129
P PLC011 Pilocytic Astrocytoma 57 0.046
130
c JBR001 Joubert Syndrome 57 0.046
131
FCL009 Focal Dermal Hypoplasia 57 0.046
132
P SNS014 Sinusitis 57 0.046
133
SCN006 Secondary Syphilis 57 0.046
134
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 56 0.046
135
CRD002 Cri-Du-Chat Syndrome 56 0.046
136
DDN006 Duodenitis 56 0.046
137
HMM003 Hemimegalencephaly 55 0.046
138
CHR008 Choroiditis 55 0.046
139
LPM005 Lipomatosis 54 0.046
140
ACH005 Achalasia 54 0.046
141
ART001 Arterial Tortuosity Syndrome 54 0.046
142
WLL001 Williams-Beuren Syndrome 54 0.046
143
RTN023 Retinitis 53 0.046
144
P ESN001 Eosinophilic Esophagitis 53 0.046
145
MBS002 Moebius Syndrome 53 0.046
146
LNN001 Lennox-Gastaut Syndrome 53 0.046
147
AND003 Andersen-Tawil Syndrome 53 0.046
148
HMG002 Hemoglobinuria 52 0.046
149
P MCR013 Microphthalmia 52 0.046
150
P CLF002 Cleft Palate 52 0.046
151
PTS001 Patau Syndrome 52 0.046
152
P ZLL001 Zellweger Syndrome 52 0.046
153
SHR001 Short Bowel Syndrome 51 0.046
154
MNN014 Mononeuritis 51 0.046
155
P JVN007 Juvenile Absence Epilepsy 51 0.046
156
c INT191 Intestinal Lymphangiectasia 50 0.046
157
PYL006 Pyloric Stenosis 50 0.046
158
P EPL018 Epilepsy, Childhood Absence, Susceptibility to, 2 50 0.046
159
MLN001 Melanotic Neuroectodermal Tumor 49 0.046
160
c CNT035 Central Nervous System Disease 49 0.046
161
HYP231 Hypothalamic Hamartomas 48 0.046
162
ADR027 Adrenocortical Insufficiency 47 0.046
163
CRP010 Corpus Callosum Agenesis 44 0.046
164
PRR010 Pierre Robin Sequence 43 0.046
165
CHN015 Chondrodysplasia 43 0.046
166
INC001 Incontinentia Pigmenti Achromians 43 0.046
167
HTS001 Hiatus Hernia 42 0.046
168
LFT013 Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects 42 0.046
169
MCK002 Meckel's Diverticulum 40 0.046
170
P APL006 Aplasia Cutis Congenita 40 0.046
171
c CHR253 Chromosome 5q Deletion 39 0.046
172
EXT022 Exotropia 39 0.046
173
MLT054 Multiple Pterygium Syndrome Escobar Type 38 0.046
174
CHL056 Cheilitis 38 0.046
175
PHC004 Phace Syndrome 35 0.046
176
BLR005 Biliary Papillomatosis 35 0.046
177
c CRB059 Cerebellar Degeneration 33 0.046
178
FCT013 Factor V Leiden Thrombophilia 33 0.046
179
GLM037 Glioma Somatic 30 0.046
180
CRK001 Cork-Handlers' Disease 30 0.046
181
c ATS059 Autosomal Dominant Hyper Ige Syndrome 29 0.046
182
ACT093 Actinic Cheilitis 29 0.046
183
DND005 Dandy-Walker Complex 27 0.046
184
c CTR120 Cataract, Congenital 26 0.046
185
PRX023 Paroxysmal Nocturnal Hemoglobinuria, Somatic 26 0.046
186
MGL025 Megalencephaly, Autosomal Recessive 26 0.046
187
CRB029 Cerebellopontine Angle Tumor 24 0.046
188
VNM003 Van Maldergem Syndrome 1 24 0.046
189
CHD004 Chudley-Mccullough Syndrome 24 0.046
190
c FRN037 Frontal Encephalocele 23 0.046
191
NRN022 Neurenteric Cyst 22 0.046
192
MYL044 Myelocystocele 20 0.046
193
c LSS025 Lissencephaly 5 19 0.046
194
VNM002 Van Maldergem Syndrome 2 11 0.046