Search results for "heterotopia"

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

305 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 47 7.831
2
c FLN007 Flna-Related Periventricular Nodular Heterotopia 17 6.402
3
P HTR015 Heterotopia, Periventricular 27 6.117
4
c HTR007 Heterotopia, Periventricular, Ed Variant 26 6.084
5
PRV007 Periventricular Heterotopia with Microcephaly 21 6.047
6
P SBC028 Subcortical Band Heterotopia 32 4.479
7
c LSS005 Lissencephaly 1 34 4.136
8
c PRV016 Periventricular Nodular Heterotopia 6 18 4.125
9
P LSS027 Lissencephaly, X-Linked 35 4.113
10
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 9 3.679
11
c PRV013 Periventricular Nodular Heterotopia 3 10 3.649
12
c PRV014 Periventricular Nodular Heterotopia 5 10 3.649
13
SBP003 Subependymal Nodular Heterotopia 13 3.265
14
NSL020 Nasal Glial Heterotopia 14 2.747
15
DCX001 Dcx-Related Disorders 16 2.601
16
HRD055 Hereditary Nodular Heterotopia 3 1.920
17
NDL022 Nodular Neuronal Heterotopia 11 1.885
18
FML049 Familial Band Heterotopia 2 1.885
19
MRG004 Marginal Glioneuronal Heterotopia 1 1.885
20
c DCX003 Dcx-Related Subcortical Band Heterotopia 6 1.864
21
SBC038 Sub-Cortical Nodular Heterotopia 5 1.864
22
17L003 17-Linked Subcortical Band Heterotopia 3 1.864
23
CHR457 Chromosome 17p13.1 Deletion Syndrome 16 1.807
24
NRN002 Neuronitis 41 0.198
25
P LSS002 Lissencephaly 47 0.190
26
CRB009 Cerebritis 48 0.156
27
P PLY024 Polymicrogyria 35 0.135
28
P ENC008 Encephalocele 46 0.129
29
P EHL001 Ehlers-Danlos Syndrome 61 0.123
30
NRN016 Neuronal Migration Disorders 35 0.123
31
PCH002 Pachygyria 38 0.103
32
P MCR010 Microcephaly 55 0.095
33
ALR002 Al-Raqad Syndrome 27 0.095
34
WST001 West Syndrome 57 0.087
35
P GLM045 Glioma 55 0.087
36
P SYN001 Syndactyly 48 0.087
37
P HYD006 Hydrocephalus 66 0.078
38
P AST007 Astrocytoma 65 0.078
39
P PNC044 Pancreatitis 60 0.078
40
MGL013 Megalencephaly 48 0.078
41
P CRN037 Craniosynostosis 65 0.067
42
P HLP001 Holoprosencephaly 63 0.067
43
CHL067 Cholecystitis 54 0.067
44
TMP001 Temporal Lobe Epilepsy 53 0.067
45
P INT063 Intellectual Disability 44 0.067
46
P MNN007 Meningocele 39 0.067
47
P BRT040 Baraitser-Winter Syndrome 38 0.067
48
MLN014 Melnick-Needles Syndrome 38 0.067
49
FRN012 Frontometaphyseal Dysplasia 37 0.067
50
CHD004 Chudley-Mccullough Syndrome 32 0.067
51
c KNB004 Knobloch Syndrome, Type 1 31 0.067
52
AND005 Androgen Insensitivity Syndrome, Mild 21 0.067
53
c LSS025 Lissencephaly 5 20 0.067
54
P ADN016 Adenocarcinoma 69 0.055
55
P TBR001 Tuberous Sclerosis 69 0.055
56
P FRG001 Fragile X Syndrome 67 0.055
57
LNG099 Lung Disease 66 0.055
58
P THN009 Thanatophoric Dysplasia, Type I 65 0.055
59
P PLC011 Pilocytic Astrocytoma 63 0.055
60
P DYS154 Dystonia 63 0.055
61
CLF027 Cleft Palate, Isolated 59 0.055
62
CNS004 Constipation 57 0.055
63
P CHL002 Childhood Absence Epilepsy 56 0.055
64
HDC001 Headache 56 0.055
65
P HYP076 Hyperthyroidism 56 0.055
66
P AXN010 Axenfeld-Rieger Syndrome, Type 3 56 0.055
67
SMT008 Smith-Magenis Syndrome 55 0.055
68
P THY032 Thyroiditis 54 0.055
69
KBG001 Kbg Syndrome 52 0.055
70
HMP005 Hemiplegia 51 0.055
71
LRN003 Learning Disability 51 0.055
72
FCS012 Facioscapulohumeral Muscular Dystrophy 1 51 0.055
73
P LFT003 Left Ventricular Noncompaction 49 0.055
74
P SZR006 Seizure Disorder 48 0.055
75
MSN003 Mesenteric Vascular Occlusion 48 0.055
76
MLL018 Miller-Dieker Lissencephaly Syndrome 48 0.055
77
ARC002 Arachnoiditis 47 0.055
78
DDN006 Duodenitis 47 0.055
79
SKL014 Skeletal Dysplasia 47 0.055
80
JCB001 Jacobsen Syndrome 46 0.055
81
P CRV039 Cervicitis 46 0.055
82
CRB045 Cerebellar Hypoplasia 40 0.055
83
ALB014 Alobar Holoprosencephaly 39 0.055
84
ARC007 Arachnoid Cysts 38 0.055
85
OBS004 Obstructive Hydrocephalus 36 0.055
86
P CMM008 Communicating Hydrocephalus 34 0.055
87
AMN009 Amniotic Band Syndrome 30 0.055
88
VNM003 Van Maldergem Syndrome 1 27 0.055
89
c LSS009 Lissencephaly 3 20 0.055
90
LMB013 Limb Reduction Defect 19 0.055
91
VNM002 Van Maldergem Syndrome 2 18 0.055
92
P RTN008 Retinitis Pigmentosa 81 0.039
93
P HPT021 Hepatitis 77 0.039
94
STR067 Stroke, Ischemic 73 0.039
95
P PFF001 Pfeiffer Syndrome 72 0.039
96
PRP027 Peripheral Vascular Disease 72 0.039
97
CRZ001 Crouzon Syndrome 70 0.039
98
P MNN013 Meningitis 68 0.039
99
APR006 Apert Syndrome 67 0.039
100
P SNS014 Sinusitis 66 0.039
101
SMT004 Smith-Lemli-Opitz Syndrome 66 0.039
102
c BSL007 Basal Cell Carcinoma 65 0.039
103
c HMP029 Hemophilia a 65 0.039
104
ACH004 Achondroplasia 64 0.039
105
FCT003 Factor X Deficiency 63 0.039
106
FCT007 Factor Vii Deficiency 63 0.039
107
GLN010 Glanzmann Thrombasthenia 63 0.039
108
P CNG015 Congenital Diaphragmatic Hernia 63 0.039
109
c HMP004 Hemophilia B 62 0.039
110
P ESP024 Esophagitis 62 0.039
111
P HMN010 Hemangioma 62 0.039
112
VNW001 Von Willebrand's Disease 62 0.039
113
P GST044 Gastritis 62 0.039
114
P THR005 Thrombotic Thrombocytopenic Purpura 61 0.039
115
P ANT006 Antiphospholipid Syndrome 61 0.039
116
CMP005 Campomelic Dysplasia 61 0.039
117
LDD001 Ladd Syndrome 60 0.039
118
P STH001 Saethre-Chotzen Syndrome 60 0.039
119
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.039
120
FCT006 Factor V Deficiency 60 0.039
121
ACH005 Achalasia 60 0.039
122
GLS001 Gliosarcoma 59 0.039
123
c THR092 Thrombophilia Due to Thrombin Defect 58 0.039
124
PLM033 Pulmonary Embolism 57 0.039
125
P THR015 Thrombophilia 57 0.039
126
P APL006 Aplasia Cutis Congenita 57 0.039
127
HYP042 Hypochondroplasia 57 0.039
128
ACN002 Acanthosis Nigricans 57 0.039
129
P EHL033 Ehlers-Danlos Syndrome, Classic Type 57 0.039
130
PRT011 Protein C Deficiency 57 0.039
131
P HYP040 Hypospadias 56 0.039
132
ANR040 Aneurysm 56 0.039
133
MSC077 Muscle Eye Brain Disease 56 0.039
134
INC021 Incontinentia Pigmenti 56 0.039
135
P MSC003 Muscular Atrophy 56 0.039
136
P ALT001 Alternating Hemiplegia of Childhood 56 0.039
137
MCR013 Microphthalmia 55 0.039
138
DSS009 Disseminated Intravascular Coagulation 55 0.039
139
GNT002 Giant Cell Glioblastoma 55 0.039
140
CRT049 Critical Limb Ischemia 55 0.039
141
WLK001 Walker-Warburg Syndrome 55 0.039
142
FCT022 Factor Xi Deficiency, Autosomal Recessive 54 0.039
143
P BCK002 Beckwith-Wiedemann Syndrome 54 0.039
144
PTN002 Patent Ductus Arteriosus 54 0.039
145
FCL009 Focal Dermal Hypoplasia 54 0.039
146
TTH006 Tooth Disease 54 0.039
147
P HMP007 Hemophilia 54 0.039
148
P CTR002 Cataract 54 0.039
149
FCT013 Factor V Leiden Thrombophilia 54 0.039
150
LNG039 Lung Squamous Cell Carcinoma 54 0.039
151
MBS002 Moebius Syndrome 54 0.039
152
HPR003 Heparin-Induced Thrombocytopenia 53 0.039
153
MNK003 Muenke Syndrome 53 0.039
154
ANK001 Ankylosis 53 0.039
155
P STR020 Strabismus 53 0.039
156
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 53 0.039
157
SCT005 Scott Syndrome 52 0.039
158
P PRS049 Persistent Mullerian Duct Syndrome 52 0.039
159
PRT014 Protein S Deficiency 52 0.039
160
THR016 Thrombophlebitis 52 0.039
161
ECT006 Ectodermal Dysplasia 52 0.039
162
P SCH018 Schizencephaly 52 0.039
163
P SHR001 Short Bowel Syndrome 52 0.039
164
c AFB002 Afibrinogenemia, Congenital 52 0.039
165
HMG002 Hemoglobinuria 52 0.039
166
ILT001 Ileitis 51 0.039
167
ANT003 Antley-Bixler Syndrome 51 0.039
168
PST095 Post-Thrombotic Syndrome 51 0.039
169
FCT004 Factor Xii Deficiency 51 0.039
170
P HYP620 Hypoprothrombinemia 51 0.039
171
RTN023 Retinitis 51 0.039
172
JCK001 Jackson-Weiss Syndrome 50 0.039
173
QBC001 Quebec Platelet Disorder 50 0.039
174
HMR002 Hemarthrosis 50 0.039
175
P HML001 Hemolytic-Uremic Syndrome 50 0.039
176
FRS002 Frasier Syndrome 50 0.039
177
c THR082 Thrombophilia Due to Activated Protein C Resistance 50 0.039
178
CHN055 Chanarin-Dorfman Syndrome 49 0.039
179
CRN017 Coronary Thrombosis 49 0.039
180
SPT006 Septooptic Dysplasia 49 0.039
181
PNN001 Panniculitis 49 0.039
182
P GND004 Gonadal Dysgenesis 49 0.039
183
PRT018 Portal Vein Thrombosis 49 0.039
184
ACR012 Aicardi Syndrome 49 0.039
185
46X003 46,xx Testicular Disorder of Sex Development 48 0.039
186
PTS001 Patau Syndrome 48 0.039
187
PRT012 Prothrombin Deficiency 48 0.039
188
CHL056 Cheilitis 48 0.039
189
P GLM040 Glioma Susceptibility 1 48 0.039
190
SKL017 Skeletal Dysplasias 48 0.039
191
ZLL002 Zollinger-Ellison Syndrome 48 0.039
192
P ZLL001 Zellweger Syndrome 47 0.039
193
SNS003 Sensory Peripheral Neuropathy 47 0.039
194
LPM005 Lipomatosis 47 0.039
195
INC001 Incontinentia Pigmenti Achromians 47 0.039
196
SYN005 Synostosis 47 0.039
197
VCS001 Vici Syndrome 47 0.039
198
BLD053 Blood Platelet Disease 47 0.039
199
CHR008 Choroiditis 47 0.039
200
c ORF037 Orofaciodigital Syndrome I 47 0.039
201
VNW005 Von Willebrand Disease, Type 1 47 0.039
202
P BLD051 Blood Coagulation Disease 46 0.039
203
P AFB001 Afibrinogenemia 46 0.039
204
P PRP034 Purpura Fulminans 46 0.039
205
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 46 0.039
206
DJR004 Dejerine-Sottas Disease 46 0.039
207
CHR276 Chronic Active Epstein-Barr Virus Infection 45 0.039
208
ACT093 Actinic Cheilitis 45 0.039
209
c PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.039
210
SND002 Sneddon Syndrome 45 0.039
211
FCT001 Factor Viii Deficiency 45 0.039
212
ACR015 Acrocephalosyndactylia 44 0.039
213
P HYD011 Hydrolethalus Syndrome 44 0.039
214
HMM003 Hemimegalencephaly 44 0.039
215
BND014 Bone Development Disease 44 0.039
216
CRD002 Cri-Du-Chat Syndrome 44 0.039
217
ATS008 Autosomal Dominant Disease 43 0.039
218
P PRS013 Prosopagnosia 43 0.039
219
c CNG031 Congenital Nervous System Abnormality 43 0.039
220
c CHR537 Charcot-Marie-Tooth Disease, Type 1e 43 0.039
221
SWY002 Swyer Syndrome 43 0.039
222
FCT005 Factor Xiii Deficiency 43 0.039
223
ANN002 Anencephaly 42 0.039
224
P CRB059 Cerebellar Degeneration 42 0.039
225
c ACQ042 Acquired Hemophilia a 42 0.039
226
c ACQ014 Acquired Hemophilia 42 0.039
227
P MXD016 Mixed Gonadal Dysgenesis 42 0.039
228
BLR005 Biliary Papillomatosis 42 0.039
229
P DYS005 Dyslexia 42 0.039
230
CRT004 Carotid Artery Thrombosis 41 0.039
231
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 41 0.039
232
HRM002 Hermaphroditism 41 0.039
233
c PFF007 Pfeiffer Syndrome Type 1 40 0.039
234
c INH004 Inherited Blood Coagulation Disease 39 0.039
235
P CHN014 Chondrodysplasia Punctata 39 0.039
236
P INT191 Intestinal Lymphangiectasia 39 0.039
237
GNT031 Genitopatellar Syndrome 39 0.039
238
CTS005 Catastrophic Antiphospholipid Syndrome 39 0.039
239
QLT001 Qualitative Platelet Defect 39 0.039
240
PLG004 Plagiocephaly 38 0.039
241
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.039
242
c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 38 0.039
243
VSC047 Vascular Malformation 38 0.039
244
c CNG413 Congenital Short Bowel Syndrome 37 0.039
245
EXT022 Exotropia 37 0.039
246
CRB029 Cerebellopontine Angle Tumor 37 0.039
247
c OTP006 Otopalatodigital Syndrome, Type I 37 0.039
248
TTR016 Tetra-Amelia Syndrome 36 0.039
249
ACQ017 Acquired Von Willebrand Syndrome 36 0.039
250
P LSS024 Lissencephaly with Cerebellar Hypoplasia 36 0.039
251
BHR002 Bohring-Opitz Syndrome 36 0.039
252
SRC011 Sarcocystosis 36 0.039
253
PRN016 Peroneal Neuropathy 36 0.039
254
MRN001 Marantic Endocarditis 36 0.039
255
46X012 46,xy Partial Gonadal Dysgenesis 36 0.039
256
TRM011 Terminal Osseous Dysplasia 36 0.039
257
MLN001 Melanotic Neuroectodermal Tumor 35 0.039
258
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 35 0.039
259
c JVN024 Juvenile Hereditary Hemochromatosis 35 0.039
260
TYP015 Type 2b Von Willebrand Disease 35 0.039
261
FRN014 Fournier Gangrene 35 0.039
262
HYP047 Hypertropia 35 0.039
263
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 34 0.039
264
c CHR160 Chiari Malformation Type 2 34 0.039
265
FCT016 Factor V and Factor Viii, Combined Deficiency of 34 0.039
266
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 33 0.039
267
SGT001 Sagittal Sinus Thrombosis 33 0.039
268
P MLD013 Mild Hemophilia a 33 0.039
269
c LSS006 Lissencephaly 2 32 0.039
270
MCK002 Meckel's Diverticulum 32 0.039
271
MST019 Mastoiditis 32 0.039
272
c WGN005 Wagner Syndrome 1 32 0.039
273
FGF001 Fgfr-Related Craniosynostosis Syndromes 32 0.039
274
PHC004 Phace Syndrome 32 0.039
275
ANT022 Anterior Cranial Fossa Meningioma 32 0.039
276
c PRX059 Peroxisome Biogenesis Disorder 1a 32 0.039
277
PRT006 Partial Motor Epilepsy 31 0.039
278
OCL034 Oculocerebrocutaneous Syndrome 30 0.039
279
ISL010 Isolated 17-Linked Lissencephaly 30 0.039
280
INT111 Intestinal Pseudoobstruction, Neuronal 29 0.039
281
FGS002 Fg Syndrome 2 29 0.039
282
OPT054 Opitz-Kaveggia Syndrome 29 0.039
283
CBB005 Cobblestone Lissencephaly 28 0.039
284
46X033 46,xx Ovotesticular Disorder of Sex Development 28 0.039
285
TYP017 Type 2n Von Willebrand Disease 27 0.039
286
DND005 Dandy-Walker Complex 27 0.039
287
P CRD017 Cardiac Valvular Dysplasia, X-Linked 27 0.039
288
c RNG022 Ring Chromosome 6 26 0.039
289
c BRT038 Baraitser-Winter Syndrome 1 26 0.039
290
CHR361 Chromosome 17p13.3 Duplication Syndrome 25 0.039
291
MYL044 Myelocystocele 25 0.039
292
TYP016 Type 2m Von Willebrand Disease 25 0.039
293
c FKR001 Fkrp-Related Muscle Diseases 24 0.039
294
P MSC002 Muscular Dystrophy-Dystroglycanopathy 23 0.039
295
HPD003 Hip Dysplasia, Beukes Type 22 0.039
296
CHR523 Chromosome 15q11.2 Deletion Syndrome 22 0.039
297
SLT007 Solitary Rectal Ulcer Syndrome 22 0.039
298
EPL150 Epilepsy, Familial Temporal Lobe, 7 21 0.039
299
NRN022 Neurenteric Cyst 20 0.039
300
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 20 0.039
301
c BNG076 Benign Exophthalmos Syndrome 19 0.039
302
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.039
303
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 18 0.039
304
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 16 0.039
305
6QT002 6q Terminal Deletion Syndrome 9 0.039