Search results for "heterotopia"

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

520 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 43 7.294
2
c FLN007 Flna-Related Periventricular Nodular Heterotopia 21 6.311
3
P HTR015 Heterotopia, Periventricular 30 6.043
4
c HTR007 Heterotopia, Periventricular, Ed Variant 24 6.016
5
PRV007 Periventricular Heterotopia with Microcephaly 24 5.987
6
P SBC028 Subcortical Band Heterotopia 34 4.140
7
c LSS005 Lissencephaly 1 43 4.084
8
c PRV016 Periventricular Nodular Heterotopia 6 20 4.075
9
P LSS027 Lissencephaly, X-Linked 39 4.065
10
c PRV013 Periventricular Nodular Heterotopia 3 14 3.613
11
c PRV014 Periventricular Nodular Heterotopia 5 14 3.613
12
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.613
13
SBP003 Subependymal Nodular Heterotopia 11 3.149
14
NSL020 Nasal Glial Heterotopia 15 2.586
15
DCX001 Dcx-Related Disorders 13 2.571
16
HRD055 Hereditary Nodular Heterotopia 3 1.855
17
FML049 Familial Band Heterotopia 2 1.855
18
MRG004 Marginal Glioneuronal Heterotopia 1 1.855
19
NDL022 Nodular Neuronal Heterotopia 9 1.838
20
SBC038 Sub-Cortical Nodular Heterotopia 5 1.838
21
c DCX003 Dcx-Related Subcortical Band Heterotopia 5 1.838
22
17L003 17-Linked Subcortical Band Heterotopia 2 1.838
23
CHR457 Chromosome 17p13.1 Deletion Syndrome 17 1.792
24
CRB009 Cerebritis 44 0.094
25
NRN002 Neuronitis 36 0.094
26
P BRS047 Breast Cancer 100 0.083
27
P LKM002 Leukemia 63 0.083
28
P HPT021 Hepatitis 63 0.077
29
ALR002 Al-Raqad Syndrome 24 0.077
30
P HRP006 Herpes Simplex 59 0.070
31
P LYM118 Lymphoma 57 0.070
32
P CLR023 Colorectal Cancer 91 0.063
33
P RHM011 Rheumatoid Arthritis 87 0.063
34
P AST005 Asthma 77 0.063
35
P ART022 Arthritis 63 0.063
36
P GLM045 Glioma 46 0.063
37
NRN016 Neuronal Migration Disorders 29 0.063
38
P CRD011 Cardiomyopathy 59 0.054
39
PRS047 Prostatitis 53 0.054
40
ADN018 Adenoma 53 0.054
41
P PNC044 Pancreatitis 53 0.054
42
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.054
43
P MYL007 Myeloma 50 0.054
44
P THY032 Thyroiditis 49 0.054
45
HYP266 Hypoxia 46 0.054
46
HPR003 Heparin-Induced Thrombocytopenia 44 0.054
47
BND016 Bone Diseases 33 0.054
48
CHD004 Chudley-Mccullough Syndrome 33 0.054
49
P INT063 Intellectual Disability 31 0.054
50
c LSS025 Lissencephaly 5 20 0.054
51
c BNG076 Benign Exophthalmos Syndrome 17 0.054
52
AND005 Androgen Insensitivity Syndrome, Mild 17 0.054
53
P LNG032 Lung Cancer 91 0.044
54
P PRS040 Prostate Cancer 87 0.044
55
P OBS005 Obesity 87 0.044
56
P RNL014 Renal Cell Carcinoma 81 0.044
57
MLR004 Malaria 75 0.044
58
P RTN024 Retinoblastoma 73 0.044
59
c DLT002 Dilated Cardiomyopathy 72 0.044
60
P OVR042 Ovarian Cancer 69 0.044
61
c HPT001 Hepatitis C 65 0.044
62
P THN009 Thanatophoric Dysplasia, Type I 62 0.044
63
P MYL006 Myeloid Leukemia 61 0.044
64
PRT036 Peritonitis 59 0.044
65
PRP027 Peripheral Vascular Disease 59 0.044
66
P HRT032 Heart Disease 58 0.044
67
P EHL001 Ehlers-Danlos Syndrome 56 0.044
68
DRM006 Dermatitis 55 0.044
69
P PRP029 Porphyria 55 0.044
70
P SNS014 Sinusitis 55 0.044
71
MLN008 Melanoma 55 0.044
72
P THR014 Thrombocytopenia 54 0.044
73
P FBR017 Fibrosarcoma 51 0.044
74
P DYS154 Dystonia 51 0.044
75
BCT002 Bacterial Vaginosis 51 0.044
76
DMN002 Dementia 51 0.044
77
P HMP007 Hemophilia 50 0.044
78
CLT003 Colitis 49 0.044
79
P LSS002 Lissencephaly 48 0.044
80
VGN023 Vaginitis 47 0.044
81
PRT014 Protein S Deficiency 47 0.044
82
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.044
83
P MCR010 Microcephaly 47 0.044
84
FCS012 Facioscapulohumeral Muscular Dystrophy 1 47 0.044
85
HDC001 Headache 45 0.044
86
CRT049 Critical Limb Ischemia 45 0.044
87
BRN071 Brain Injury 43 0.044
88
PRN011 Pernicious Anemia 43 0.044
89
END072 Endotheliitis 41 0.044
90
P CRV039 Cervicitis 41 0.044
91
NPH003 Nephrocalcinosis 40 0.044
92
MSN003 Mesenteric Vascular Occlusion 40 0.044
93
XNT003 Xanthomatosis 39 0.044
94
TTR016 Tetra-Amelia Syndrome 36 0.044
95
P ENC008 Encephalocele 35 0.044
96
ANS006 Anosognosia 34 0.044
97
c KNB004 Knobloch Syndrome, Type 1 31 0.044
98
VNM003 Van Maldergem Syndrome 1 25 0.044
99
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 25 0.044
100
c LSS009 Lissencephaly 3 21 0.044
101
VNM002 Van Maldergem Syndrome 2 19 0.044
102
P ALZ034 Alzheimer Disease 91 0.031
103
HPT023 Hepatocellular Carcinoma 87 0.031
104
P PLM037 Pulmonary Hypertension 78 0.031
105
P MYC007 Myocardial Infarction 77 0.031
106
P SCH015 Schizophrenia 76 0.031
107
DCH001 Duchenne Muscular Dystrophy 76 0.031
108
P OST002 Osteoporosis 76 0.031
109
END057 Endometrial Cancer 73 0.031
110
HDG012 Hodgkin Lymphoma 73 0.031
111
c MLT019 Multiple Myeloma 71 0.031
112
ULC004 Ulcerative Colitis 70 0.031
113
P PFF001 Pfeiffer Syndrome 69 0.031
114
c CHR090 Chronic Lymphocytic Leukemia 69 0.031
115
P NRB001 Neuroblastoma 69 0.031
116
P MTC003 Metachromatic Leukodystrophy 67 0.031
117
INS024 Insulin-Like Growth Factor I 67 0.031
118
P ATM006 Autoimmune Lymphoproliferative Syndrome 67 0.031
119
P INF038 Influenza 67 0.031
120
P LPR003 Leprosy 66 0.031
121
CRZ001 Crouzon Syndrome 66 0.031
122
STR067 Stroke, Ischemic 66 0.031
123
ACH004 Achondroplasia 65 0.031
124
SMT004 Smith-Lemli-Opitz Syndrome 65 0.031
125
THY028 Thyroid Cancer 65 0.031
126
c JVN010 Juvenile Rheumatoid Arthritis 65 0.031
127
P FRG001 Fragile X Syndrome 64 0.031
128
MLT021 Multiple System Atrophy 64 0.031
129
SQM013 Squamous Cell Carcinoma, Head and Neck 64 0.031
130
P LKM068 Leukemia, Chronic Myeloid, Somatic 63 0.031
131
P HLP001 Holoprosencephaly 63 0.031
132
CMM004 Common Variable Immunodeficiency 63 0.031
133
APR006 Apert Syndrome 63 0.031
134
P STH001 Saethre-Chotzen Syndrome 62 0.031
135
GLN010 Glanzmann Thrombasthenia 62 0.031
136
P PLM036 Pulmonary Fibrosis 62 0.031
137
CMP005 Campomelic Dysplasia 62 0.031
138
P END044 Endometriosis 62 0.031
139
ACR007 Acromegaly 62 0.031
140
LDD001 Ladd Syndrome 61 0.031
141
P CRN037 Craniosynostosis 61 0.031
142
SRC014 Sarcoma 61 0.031
143
VNW001 Von Willebrand's Disease 61 0.031
144
OTT002 Otitis Media 60 0.031
145
P LVR013 Liver Disease 60 0.031
146
AND015 Androgen Insensitivity 60 0.031
147
FCT007 Factor Vii Deficiency 60 0.031
148
P AMY004 Amyloidosis 59 0.031
149
P BCL006 B-Cell Lymphomas 59 0.031
150
BSC001 Buschke-Ollendorff Syndrome 59 0.031
151
P ADN016 Adenocarcinoma 59 0.031
152
c HMP029 Hemophilia a 58 0.031
153
ISC006 Ischemic Heart Disease 58 0.031
154
P THY023 Thymoma 58 0.031
155
HYP042 Hypochondroplasia 57 0.031
156
CRB011 Cerebrotendinous Xanthomatosis 57 0.031
157
P PRD008 Periodontitis 57 0.031
158
SCH014 Schistosomiasis 57 0.031
159
YLL002 Yellow Fever 57 0.031
160
MSL001 Measles 57 0.031
161
CNR002 Cone-Rod Dystrophy 57 0.031
162
c HMP004 Hemophilia B 57 0.031
163
c ATM011 Autoimmune Hepatitis 56 0.031
164
TKY001 Takayasu's Arteritis 56 0.031
165
WLK001 Walker-Warburg Syndrome 56 0.031
166
P PNM007 Pneumonia 56 0.031
167
TTN003 Tetanus 56 0.031
168
P PRS049 Persistent Mullerian Duct Syndrome 56 0.031
169
ALC006 Alcoholic Hepatitis 56 0.031
170
P EHL033 Ehlers-Danlos Syndrome, Classic Type 56 0.031
171
ATH003 Atherosclerosis 56 0.031
172
P FCL005 Focal Segmental Glomerulosclerosis 55 0.031
173
FCT003 Factor X Deficiency 55 0.031
174
P NPH012 Nephrotic Syndrome 55 0.031
175
P MNN013 Meningitis 55 0.031
176
P HYP061 Hypertrophic Cardiomyopathy 55 0.031
177
P MYS005 Myositis 55 0.031
178
VSC007 Vascular Disease 55 0.031
179
P THL005 Thalassemia 55 0.031
180
EPD016 Epidermolysis Bullosa 55 0.031
181
CNT047 Contact Dermatitis 55 0.031
182
P GST044 Gastritis 55 0.031
183
MNK003 Muenke Syndrome 55 0.031
184
P STC001 Stickler Syndrome 55 0.031
185
HRP004 Herpes Zoster 55 0.031
186
P THR015 Thrombophilia 54 0.031
187
CHL014 Cholera 54 0.031
188
WLL001 Williams-Beuren Syndrome 54 0.031
189
HST011 Histoplasmosis 54 0.031
190
P MSC005 Muscular Dystrophy 54 0.031
191
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 54 0.031
192
P ESP024 Esophagitis 54 0.031
193
FCT006 Factor V Deficiency 54 0.031
194
P INF032 Infertility 54 0.031
195
FTT001 Fatty Liver Disease 53 0.031
196
P PLY014 Polycystic Kidney Disease 53 0.031
197
P ANT006 Antiphospholipid Syndrome 53 0.031
198
P HMP002 Hemophagocytic Lymphohistiocytosis 53 0.031
199
P UVT001 Uveitis 53 0.031
200
LMY002 Leiomyoma 53 0.031
201
MBS002 Moebius Syndrome 53 0.031
202
CLF027 Cleft Palate, Isolated 53 0.031
203
P ALT001 Alternating Hemiplegia of Childhood 53 0.031
204
P CRN012 Craniometaphyseal Dysplasia 53 0.031
205
P RHN004 Rhinitis 52 0.031
206
P HYP097 Hyperekplexia 52 0.031
207
P NRM001 Neuromyelitis Optica 52 0.031
208
CRV038 Cervical Squamous Cell Carcinoma 52 0.031
209
P NTR004 Neutropenia 52 0.031
210
P ALC004 Alcohol Abuse 52 0.031
211
P HYP620 Hypoprothrombinemia 52 0.031
212
CMM005 Common Cold 52 0.031
213
PPL022 Papilloma 52 0.031
214
P HYP086 Hypothyroidism 51 0.031
215
PYC001 Pycnodysostosis 51 0.031
216
P RBL001 Rubella 51 0.031
217
c ADL017 Adult T-Cell Leukemia 51 0.031
218
P PLY006 Polydactyly 51 0.031
219
PLM033 Pulmonary Embolism 51 0.031
220
c THR092 Thrombophilia Due to Thrombin Defect 51 0.031
221
JCK001 Jackson-Weiss Syndrome 51 0.031
222
SBC001 Subacute Sclerosing Panencephalitis 51 0.031
223
CRD119 Cardiac Arrest 51 0.031
224
FRS002 Frasier Syndrome 51 0.031
225
ANT003 Antley-Bixler Syndrome 51 0.031
226
P GLM007 Glomerulonephritis 50 0.031
227
P LMY004 Leiomyosarcoma 50 0.031
228
ACN002 Acanthosis Nigricans 50 0.031
229
P ENC004 Encephalitis 50 0.031
230
P PRM006 Primary Biliary Cirrhosis 50 0.031
231
DJR004 Dejerine-Sottas Disease 50 0.031
232
P KDN018 Kidney Disease 49 0.031
233
ISC004 Ischemia 49 0.031
234
DFF005 Diffuse Large B-Cell Lymphoma 49 0.031
235
RLP001 Relapsing Polychondritis 49 0.031
236
DSS009 Disseminated Intravascular Coagulation 49 0.031
237
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 49 0.031
238
P DGR001 Digeorge Syndrome 49 0.031
239
c AFB002 Afibrinogenemia, Congenital 49 0.031
240
BRN056 Bronchopulmonary Dysplasia 49 0.031
241
THR016 Thrombophlebitis 49 0.031
242
P HYP040 Hypospadias 49 0.031
243
P THR005 Thrombotic Thrombocytopenic Purpura 49 0.031
244
TRY001 Trypanosomiasis 49 0.031
245
MSC077 Muscle Eye Brain Disease 49 0.031
246
PSD002 Pseudotumor Cerebri 49 0.031
247
ART111 Artery Disease 49 0.031
248
P PRS038 Personality Disorder 49 0.031
249
FCT004 Factor Xii Deficiency 49 0.031
250
P SYN001 Syndactyly 48 0.031
251
FCT022 Factor Xi Deficiency, Autosomal Recessive 48 0.031
252
P GLL020 Gallbladder Disease 48 0.031
253
P MST009 Mastocytosis 48 0.031
254
CHL069 Cholesteatoma 48 0.031
255
PRC013 Pericarditis 48 0.031
256
c THR082 Thrombophilia Due to Activated Protein C Resistance 48 0.031
257
P LKD001 Leukodystrophy 48 0.031
258
GSG001 Gas Gangrene 48 0.031
259
WHM001 Whim Syndrome 48 0.031
260
P PNM006 Pneumoconiosis 48 0.031
261
P NPH009 Nephrolithiasis 48 0.031
262
MLN007 Male Infertility 47 0.031
263
PLM014 Pleomorphic Adenoma 47 0.031
264
P HML001 Hemolytic-Uremic Syndrome 47 0.031
265
CYT008 Cytomegalovirus Infection 47 0.031
266
GST033 Gestational Diabetes 47 0.031
267
MST005 Mastitis 47 0.031
268
ART031 Aortic Coarctation 47 0.031
269
CHY002 Chylomicron Retention Disease 47 0.031
270
MCP006 Mucoepidermoid Carcinoma 47 0.031
271
VCS001 Vici Syndrome 47 0.031
272
PTN002 Patent Ductus Arteriosus 47 0.031
273
P HRP009 Herpes Simplex Encephalitis 47 0.031
274
46X003 46,xx Testicular Disorder of Sex Development 46 0.031
275
LYM019 Lymphosarcoma 46 0.031
276
CHN055 Chanarin-Dorfman Syndrome 46 0.031
277
GLS001 Gliosarcoma 46 0.031
278
CNG048 Congenital Hepatic Fibrosis 46 0.031
279
TRD006 Tardive Dyskinesia 46 0.031
280
PLY013 Polymyalgia Rheumatica 46 0.031
281
DFF036 Differentiated Thyroid Carcinoma 45 0.031
282
HYP080 Hypogonadism 45 0.031
283
PPL002 Papillary Carcinoma 45 0.031
284
P ACT135 Acute Graft Versus Host Disease 45 0.031
285
TRM010 Traumatic Brain Injury 45 0.031
286
PRT011 Protein C Deficiency 45 0.031
287
c ANT034 Anterior Uveitis 45 0.031
288
FLT001 Felty's Syndrome 45 0.031
289
CRN017 Coronary Thrombosis 45 0.031
290
P EPL002 Epilepsy Syndrome 45 0.031
291
LNG039 Lung Squamous Cell Carcinoma 45 0.031
292
P HYD011 Hydrolethalus Syndrome 45 0.031
293
INT075 Intracranial Hypertension 45 0.031
294
DRG011 Drug Addiction 45 0.031
295
NCR004 Nocardiosis 45 0.031
296
P PYL005 Pyelonephritis 44 0.031
297
NRM004 Neuroma 44 0.031
298
OST011 Osteomalacia 44 0.031
299
ACR012 Aicardi Syndrome 44 0.031
300
P STF001 Stiff-Person Syndrome 44 0.031
301
P FNC004 Fanconi Syndrome 44 0.031
302
HPT009 Hepatopulmonary Syndrome 44 0.031
303
HYP141 Hyperphenylalaninemia 44 0.031
304
RDC002 Radiculopathy 44 0.031
305
NPH018 Nephrogenic Systemic Fibrosis 44 0.031
306
MLB001 Mulibrey Nanism 43 0.031
307
CTN014 Cutaneous Mastocytosis 43 0.031
308
SPN051 Spondylitis 43 0.031
309
c GMM003 Gamma Heavy Chain Disease 43 0.031
310
SLP001 Sleeping Sickness 43 0.031
311
TRN044 Transposition of the Great Arteries 43 0.031
312
SND002 Sneddon Syndrome 43 0.031
313
TTH006 Tooth Disease 43 0.031
314
c ORF037 Orofaciodigital Syndrome I 43 0.031
315
LMB062 Limb Ischemia 43 0.031
316
c CNG124 Congenital Rubella 43 0.031
317
LMR001 Lemierre's Syndrome 43 0.031
318
SYN005 Synostosis 42 0.031
319
PST095 Post-Thrombotic Syndrome 42 0.031
320
c OTP007 Otopalatodigital Syndrome, Type Ii 42 0.031
321
P ATR005 Atrophic Gastritis 42 0.031
322
HMP005 Hemiplegia 42 0.031
323
SCT005 Scott Syndrome 42 0.031
324
P PLY019 Polyneuropathy 42 0.031
325
MYS001 Myositis Ossificans 42 0.031
326
ANK001 Ankylosis 42 0.031
327
P STR020 Strabismus 42 0.031
328
P SCK005 Sickle Cell Disease 42 0.031
329
SPP008 Suppurative Otitis Media 42 0.031
330
VNW005 Von Willebrand Disease, Type 1 42 0.031
331
CCN002 Cocaine Abuse 42 0.031
332
RTN023 Retinitis 42 0.031
333
GNT002 Giant Cell Glioblastoma 42 0.031
334
CRT016 Carotid Artery Disease 42 0.031
335
PRT018 Portal Vein Thrombosis 41 0.031
336
CHR074 Choriocarcinoma 41 0.031
337
SBS004 Substance Dependence 41 0.031
338
QBC001 Quebec Platelet Disorder 41 0.031
339
PRT012 Prothrombin Deficiency 41 0.031
340
SLL001 Sialolithiasis 41 0.031
341
OCL006 Ocular Hypertension 41 0.031
342
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 41 0.031
343
TBR011 Tuberculous Meningitis 41 0.031
344
BCT015 Bacteremia 41 0.031
345
SWY002 Swyer Syndrome 41 0.031
346
TNC002 Tinea Capitis 41 0.031
347
c ACT134 Acute Liver Failure 41 0.031
348
MLN014 Melnick-Needles Syndrome 40 0.031
349
DBT008 Diabetic Angiopathy 40 0.031
350
c CHR092 Chronic Myeloproliferative Disease 40 0.031
351
HMG002 Hemoglobinuria 40 0.031
352
PTT037 Pituitary Tumors 40 0.031
353
c ATM024 Autoimmune Pancreatitis 40 0.031
354
P GND004 Gonadal Dysgenesis 40 0.031
355
ANH002 Anhidrosis 40 0.031
356
PRS039 Prostate Adenocarcinoma 40 0.031
357
c CHR537 Charcot-Marie-Tooth Disease, Type 1e 40 0.031
358
PYD002 Pyoderma 40 0.031
359
TRC012 Trichuriasis 40 0.031
360
HMR002 Hemarthrosis 40 0.031
361
FCT001 Factor Viii Deficiency 40 0.031
362
SKL014 Skeletal Dysplasia 40 0.031
363
FCT005 Factor Xiii Deficiency 40 0.031
364
GST052 Gestational Choriocarcinoma 40 0.031
365
FBR003 Fibrous Histiocytoma 39 0.031
366
LYM052 Lymphomatoid Papulosis 39 0.031
367
ASC002 Ascariasis 39 0.031
368
CRS001 Crescentic Glomerulonephritis 39 0.031
369
SDD007 Sudden Cardiac Death 39 0.031
370
BRC084 Brca1 Hereditary Breast and Ovarian Cancer Syndrome 39 0.031
371
FRN012 Frontometaphyseal Dysplasia 39 0.031
372
PLY020 Polyradiculoneuropathy 39 0.031
373
SPL018 Splenomegaly 39 0.031
374
P AFB001 Afibrinogenemia 39 0.031
375
P TCL004 T-Cell Leukemia 39 0.031
376
P RTN014 Retinal Artery Occlusion 39 0.031
377
BCK006 Back Pain 38 0.031
378
PNN001 Panniculitis 38 0.031
379
TRN012 Transient Global Amnesia 38 0.031
380
DFF001 Diffuse Cutaneous Mastocytosis 38 0.031
381
VSM001 Vasomotor Rhinitis 38 0.031
382
LKS001 Leukostasis 38 0.031
383
GNT031 Genitopatellar Syndrome 37 0.031
384
CLC001 Calciphylaxis 37 0.031
385
PLG004 Plagiocephaly 37 0.031
386
CRV043 Cervical Dystonia 37 0.031
387
CHR276 Chronic Active Epstein-Barr Virus Infection 37 0.031
388
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 37 0.031
389
P PRP034 Purpura Fulminans 37 0.031
390
MYL001 Myelitis 37 0.031
391
CRR007 Cirrhosis, Cryptogenic 37 0.031
392
PLC001 Placenta Accreta 37 0.031
393
HST009 Histiocytoma 37 0.031
394
P BLD051 Blood Coagulation Disease 37 0.031
395
c HRD169 Hereditary Colorectal Cancer 36 0.031
396
DWR001 Dwarfism 36 0.031
397
LKP003 Leukoplakia 36 0.031
398
HRM002 Hermaphroditism 36 0.031
399
CRB033 Cerebral Degeneration 36 0.031
400
EPD005 Epidural Abscess 36 0.031
401
GLM011 Glomerulosclerosis 36 0.031
402
PRV003 Perivascular Epithelioid Cell Tumor 36 0.031
403
KWS001 Kwashiorkor 36 0.031
404
PCH002 Pachygyria 36 0.031
405
APH002 Aphasia 36 0.031
406
ACR015 Acrocephalosyndactylia 35 0.031
407
c OTP006 Otopalatodigital Syndrome, Type I 35 0.031
408
SRC011 Sarcocystosis 35 0.031
409
P HVY001 Heavy Chain Disease 35 0.031
410
CYS009 Cystadenoma 35 0.031
411
MYX004 Myxedema 35 0.031
412
EXC002 Exocrine Pancreatic Insufficiency 35 0.031
413
BHR002 Bohring-Opitz Syndrome 35 0.031
414
c ACQ014 Acquired Hemophilia 35 0.031
415
BLD053 Blood Platelet Disease 35 0.031
416
TRM011 Terminal Osseous Dysplasia 35 0.031
417
LRY029 Laryngomalacia 35 0.031
418
P MXD016 Mixed Gonadal Dysgenesis 35 0.031
419
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 34 0.031
420
c LSS006 Lissencephaly 2 34 0.031
421
TYP015 Type 2b Von Willebrand Disease 34 0.031
422
c PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 34 0.031
423
ATS008 Autosomal Dominant Disease 34 0.031
424
FRY002 Fryns Syndrome 34 0.031
425
QLT001 Qualitative Platelet Defect 34 0.031
426
c LBR014 Leber Congenital Amaurosis 4 34 0.031
427
CNS002 Constrictive Pericarditis 34 0.031
428
XNT001 Xanthogranulomatous Pyelonephritis 34 0.031
429
c PFF007 Pfeiffer Syndrome Type 1 34 0.031
430
c ACQ042 Acquired Hemophilia a 33 0.031
431
P LBY004 Labyrinthitis 33 0.031
432
46X012 46,xy Partial Gonadal Dysgenesis 33 0.031
433
CRT004 Carotid Artery Thrombosis 33 0.031
434
RTR001 Retrograde Amnesia 33 0.031
435
BND014 Bone Development Disease 33 0.031
436
c PLY059 Polycystic Kidney Disease, Adult Type I 33 0.031
437
PHY002 Physical Disorder 33 0.031
438
MRN001 Marantic Endocarditis 33 0.031
439
c CNG031 Congenital Nervous System Abnormality 33 0.031
440
c INH004 Inherited Blood Coagulation Disease 33 0.031
441
ACQ017 Acquired Von Willebrand Syndrome 32 0.031
442
SGT001 Sagittal Sinus Thrombosis 32 0.031
443
SCT002 Scotoma 32 0.031
444
CHL052 Choledochal Cyst 32 0.031
445
RNL025 Renal Hypoplasia 32 0.031
446
CTS005 Catastrophic Antiphospholipid Syndrome 32 0.031
447
c PRX059 Peroxisome Biogenesis Disorder 1a 31 0.031
448
INT011 Interstitial Emphysema 31 0.031
449
INT111 Intestinal Pseudoobstruction, Neuronal 31 0.031
450
IRT001 Iritis 31 0.031
451
P LSS024 Lissencephaly with Cerebellar Hypoplasia 31 0.031
452
c CNT028 Central Retinal Artery Occlusion 31 0.031
453
INT016 Intraductal Papilloma 31 0.031
454
OPT054 Opitz-Kaveggia Syndrome 31 0.031
455
HYP047 Hypertropia 30 0.031
456
DYS073 Dysphagia 30 0.031
457
FXF001 Fox Fordyce Disease 30 0.031
458
SNS003 Sensory Peripheral Neuropathy 30 0.031
459
PRN016 Peroneal Neuropathy 30 0.031
460
HRP002 Herpes Gestationis 30 0.031
461
P DYS021 Dysautonomia 29 0.031
462
ATR003 Atrophic Rhinitis 29 0.031
463
OCL034 Oculocerebrocutaneous Syndrome 29 0.031
464
ANL011 Anal Canal Carcinoma 29 0.031
465
FGF001 Fgfr-Related Craniosynostosis Syndromes 29 0.031
466
FRN014 Fournier Gangrene 29 0.031
467
P CHR342 Chiari Malformation 29 0.031
468
VSL002 Visual Epilepsy 29 0.031
469
ACT056 Acute Cor Pulmonale 28 0.031
470
c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 27 0.031
471
P CRD017 Cardiac Valvular Dysplasia, X-Linked 27 0.031
472
CHR073 Choreatic Disease 27 0.031
473
HRS011 Horseshoe Kidney 27 0.031
474
CHR361 Chromosome 17p13.3 Duplication Syndrome 27 0.031
475
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 27 0.031
476
FCT016 Factor V and Factor Viii, Combined Deficiency of 27 0.031
477
MDD005 Middle Lobe Syndrome 27 0.031
478
c BRT038 Baraitser-Winter Syndrome 1 26 0.031
479
FCT013 Factor V Leiden Thrombophilia 26 0.031
480
MDD008 Middle Ear Adenoma 26 0.031
481
ANT022 Anterior Cranial Fossa Meningioma 26 0.031
482
P MLD013 Mild Hemophilia a 26 0.031
483
TYP017 Type 2n Von Willebrand Disease 26 0.031
484
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 26 0.031
485
46X033 46,xx Ovotesticular Disorder of Sex Development 25 0.031
486
SPH007 Sphenoid Sinusitis 25 0.031
487
SPR035 Superior Vena Cava Syndrome 25 0.031
488
OCC011 Occipital Encephalocele 25 0.031
489
DBT076 Diabetic Embryopathy 25 0.031
490
CBB005 Cobblestone Lissencephaly 25 0.031
491
GRN033 Granulomatous Mastitis 24 0.031
492
FGS002 Fg Syndrome 2 24 0.031
493
c CHR160 Chiari Malformation Type 2 24 0.031
494
GNT004 Gnathomiasis 24 0.031
495
PRX009 Paroxysmal Hemicrania 23 0.031
496
c WGN005 Wagner Syndrome 1 23 0.031
497
TYP016 Type 2m Von Willebrand Disease 23 0.031
498
c DYS071 Dystonia 6 23 0.031
499
PNC056 Pineocytoma 23 0.031
500
HPD003 Hip Dysplasia, Beukes Type 23 0.031
501
NNT018 Neonatal Herpes 22 0.031
502
P MSC002 Muscular Dystrophy-Dystroglycanopathy 22 0.031
503
c RNG023 Ring Chromosome 7 22 0.031
504
c MRG010 Meier-Gorlin Syndrome 3 22 0.031
505
MCH006 Mechanical Strabismus 21 0.031
506
PRT006 Partial Motor Epilepsy 20 0.031
507
EPL150 Epilepsy, Familial Temporal Lobe, 7 20 0.031
508
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 20 0.031
509
ATM026 Autoimmune Progesterone Dermatitis 19 0.031
510
P TST016 Testicular Granulosa Cell Tumor 19 0.031
511
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.031
512
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.031
513
ISL010 Isolated 17-Linked Lissencephaly 18 0.031
514
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 18 0.031
515
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 15 0.031
516
VRS002 Virus-Associated Trichodysplasia Spinulosa 15 0.031
517
MNN041 Mannose-Binding Lectin Protein Deficiency 14 0.031
518
GNT023 Gnathostoma Infection 9 0.031
519
c FKR001 Fkrp-Related Muscle Diseases 9 0.031
520
c ADL043 Adult Type Testicular Granulosa Cell Tumor 8 0.031