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

557 hits were found for 'ptosis'

# ++ Fam MCID Name MIFTS Score
1
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 34 4.729
2
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 20 3.994
3
c BLP013 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 10 3.519
4
P BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 10 3.450
5
DFN004 Deafness Conductive Ptosis Skeletal Anomalies 11 3.440
6
PTS008 Ptosis, Congenital 21 3.328
7
c BRT040 Baraitser-Winter Syndrome 29 3.125
8
MCR042 Microbrachycephaly Ptosis Cleft Lip 12 3.084
9
TCK005 Tucker Syndrome 10 3.059
10
PTS007 Ptosis Strabismus Ectopic Pupils 7 3.059
11
c BLP029 Blepharophimosis - Epicanthus Inversus - Ptosis Due to 3q23 Microdeletion 5 3.044
12
TRG009 Trigonocephaly Ptosis Mental Retardation 4 2.692
13
PTS005 Ptosis Coloboma Mental Retardation 4 2.260
14
c HRD067 Hereditary Congenital Ptosis 3 2.228
15
BLP028 Blepharophimosis-Ptosis-Intellectual Disability Syndrome 9 2.188
16
JRG001 Jorgenson Lenz Syndrome 12 2.172
17
PTS013 Ptosis - Upper Ocular Movement Limitation - Absence of Lacrimal Punctum 6 2.172
18
ANR036 Aniridia - Ptosis - Intellectual Deficit - Familial Obesity 5 2.172
19
CNG098 Congenital Heart Disease Ptosis Hypodontia Craniostosis 1 2.172
20
ANR015 Aniridia Ptosis Mental Retardation Obesity Familial 0 2.172
21
c CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0 2.172
22
OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 0 2.172
23
SPR026 Sparse Hair Ptosis Mental Retardation 0 2.172
24
ART058 Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis 3 2.152
25
c BLP021 Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 3 2.152
26
c PTS009 Ptosis, Hereditary Congenital, 1 3 2.152
27
P PTS010 Ptosis, Hereditary Congenital 2 3 2.152
28
c BLP019 Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion 2 2.152
29
VRT006 Vertebral Fusion Posterior Lumbosacral Blepharoptosis 2 2.152
30
PTS006 Ptosis Strabismus Diastasis 0 2.152
31
PTS014 Ptosis - Syndactyly - Learning Difficulties 0 2.152
32
MRC002 Marcus Gunn Phenomenon 22 1.673
33
BLM001 Bloom Syndrome 74 1.598
34
P BRT038 Baraitser-Winter Syndrome 1 31 1.583
35
WLF002 Wolf-Hirschhorn Syndrome 51 1.547
36
CRN054 Carnevale Syndrome 9 1.547
37
WND002 Wandering Spleen 26 1.522
38
SYN049 Synostosis - Microcephaly - Scoliosis 17 1.522
39
ISL037 Isolated Anterior Cervical Hypertrichosis 15 1.522
40
HYP182 Hypertrichosis, Anterior Cervical 12 1.522
41
c RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 7 1.522
42
JNS005 Jones Hersh Yusk Syndrome 6 1.522
43
TSK001 Tsukahara Azuno Kajii Syndrome 4 1.522
44
MHT001 Mehta Lewis Patton Syndrome 2 1.522
45
TRF002 Treft Sanborn Carey Syndrome 2 1.522
46
MCP019 Mcpherson Robertson Cammarano Syndrome 1 1.522
47
c BLP004 Blepharophimosis 41 0.326
48
P MYP018 Myopia 6 23 0.238
49
c XP2001 Xp22.3 Microdeletion Syndrome 17 0.234
50
14Q004 14q22q23 Microdeletion Syndrome 25 0.182
51
3Q2005 3q26q27 Microdeletion Syndrome 14 0.182
52
NNN017 Noonan/ Costello/ Leopard/ Cardiofaciocutaneous Syndrome Multi-Gene Panels 11 0.165
53
SHR054 Short Stature - Intellectual Deficit - Eye Anomalies - Cleft Lip/palate 11 0.150
54
TPM005 Tpm3-Related Congenital Fiber-Type Disproportion 8 0.150
55
c MNT147 Mental Retardation 51 0.147
56
MCR170 Microcephaly - Cleft Palate 17 0.144
57
THR013 Thoracic Outlet Syndrome 53 0.141
58
c OPH004 Ophthalmoplegia 46 0.141
59
c PPL025 Popliteal Pterygium Syndrome 31 0.137
60
21Q001 21q22.11q22.12 Microdeletion Syndrome 13 0.134
61
CLB009 Coloboma of Iris 15 0.130
62
P PRM019 Premature Ovarian Failure 64 0.126
63
14Q001 14q12 Microdeletion Syndrome 23 0.119
64
c 2P1003 2p13.2 Microdeletion Syndrome 11 0.119
65
c DST058 Distal Monosomy 12p 16 0.115
66
MNS013 Monosomy 13q34 14 0.115
67
17Q001 17q21.31 Microdeletion Syndrome 29 0.111
68
c CHR226 Chromosome 1q41-Q42 Deletion Syndrome 23 0.111
69
MCR071 Microdeletion 15q11.2 21 0.111
70
CLB001 Coloboma 56 0.106
71
P STR020 Strabismus 53 0.106
72
MNN014 Mononeuritis 40 0.106
73
c JBR026 Joubert Syndrome 15 35 0.106
74
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.106
75
c KLL005 Kallmann Syndrome 3 15 0.106
76
10P002 10p11.21p12.31 Microdeletion Syndrome 14 0.106
77
c MCR010 Microcephaly 54 0.102
78
P ART087 Arthrogryposis with Oculomotor Limitation and Electroretinal Anomalies 21 0.102
79
17Q007 17q11 Microdeletion Syndrome 21 0.102
80
12P001 12p12.1 Microdeletion Syndrome 15 0.102
81
PRM135 Paramedian Nasal Cleft 10 0.102
82
c SYN001 Syndactyly 52 0.097
83
JCB001 Jacobsen Syndrome 49 0.097
84
CRD132 Cardiac Conduction Defect 32 0.097
85
ANR002 Aniridia 59 0.092
86
P DST010 Distal Arthrogryposis Type 5 33 0.092
87
19Q001 19q13.11 Microdeletion Syndrome 21 0.092
88
BLP010 Blepharophimosis Intellectual Disability Syndromes 9 0.092
89
P SHR002 Short Stature 64 0.087
90
PSY004 Psychotic Disorder 62 0.087
91
NSY001 N Syndrome 57 0.087
92
c MSC005 Muscular Dystrophy 54 0.087
93
SCN006 Secondary Syphilis 53 0.087
94
AMB002 Amblyopia 46 0.087
95
c CHR266 Chromosome 8p23.1 Deletion 21 0.087
96
OCL008 Oculopharyngeal Muscular Dystrophy 55 0.081
97
ALB002 Albinism 50 0.081
98
P CHR095 Chronic Progressive External Ophthalmoplegia 46 0.081
99
c MYP006 Myopia 36 0.081
100
EST005 Esotropia 33 0.081
101
17Q004 17q12 Microdeletion Syndrome 32 0.081
102
P PPL047 Popliteal Pterygium Syndrome 2, Lethal Type 17 0.081
103
LRG009 Large-Related Muscle Diseases 11 0.081
104
ACN002 Acanthosis Nigricans 70 0.075
105
RFR003 Refractive Error 48 0.075
106
1P3001 1p36 Deletion Syndrome 44 0.075
107
ECT005 Ectropion 39 0.075
108
P HRN001 Horner's Syndrome 38 0.075
109
c 4Q2001 4q21 Microdeletion Syndrome 24 0.075
110
c MSC050 Muscular Dystrophy, Congenital, 1b 18 0.075
111
12Q001 12q15q21.1 Microdeletion Syndrome 14 0.075
112
RCH004 Richieri Costa Guion Almeida Syndrome 5 0.075
113
ANK002 Ankylosing Spondylitis 75 0.069
114
WST001 West Syndrome 64 0.069
115
P CLF002 Cleft Palate 60 0.069
116
CYS005 Cysticercosis 59 0.069
117
c MYP004 Myopathy 52 0.069
118
c BRC006 Brachydactyly 48 0.069
119
PLX002 Plexiform Neurofibroma 43 0.069
120
P BLP003 Blepharospasm 42 0.069
121
c OPT004 Optic Atrophy 41 0.069
122
CRB045 Cerebellar Hypoplasia 38 0.069
123
c 3Q2003 3q29 Microdeletion Syndrome 37 0.069
124
HNM001 Hinman's Syndrome 28 0.069
125
12Q002 12q14 Microdeletion Syndrome 28 0.069
126
TFT003 Tufting Enteropathy 26 0.069
127
2Q3003 2q32q33 Microdeletion Syndrome 25 0.069
128
c 2Q2001 2q23.1 Microdeletion Syndrome 25 0.069
129
CLF029 Cleft Palate and Mental Retardation 21 0.069
130
10Q001 10q22.3q23.3 Microdeletion Syndrome 19 0.069
131
ATX002 Ataxia Telangiectasia 81 0.061
132
P MYS003 Myasthenia Gravis 71 0.061
133
P CNG030 Congenital Muscular Dystrophy 59 0.061
134
P DWR001 Dwarfism 59 0.061
135
MYC002 Mycobacterium Avium Complex Disease 56 0.061
136
P CNJ013 Conjunctivitis 55 0.061
137
LRN003 Learning Disability 54 0.061
138
c JBR001 Joubert Syndrome 49 0.061
139
PTT004 Pituitary Apoplexy 48 0.061
140
FCL012 Facial Paralysis 44 0.061
141
INT063 Intellectual Disability 42 0.061
142
P HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 41 0.061
143
SCH016 Schimke Immunoosseous Dysplasia 40 0.061
144
TTR016 Tetra-Amelia Syndrome 36 0.061
145
P LYM029 Lymphedema-Distichiasis Syndrome 36 0.061
146
MCR029 Micro Syndrome 31 0.061
147
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 29 0.061
148
BLP018 Blepharophimosis-Intellectual Deficit Syndrome, Ohdo Type 16 0.061
149
c 9P1001 9p13 Microdeletion Syndrome 13 0.061
150
c 5Q3002 5q31.3 Microdeletion Syndrome 13 0.061
151
LVT001 Levator Syndrome 10 0.061
152
c AXN002 Axenfeld-Rieger Syndrome 57 0.053
153
SNS001 Sensorineural Hearing Loss 55 0.053
154
HYP080 Hypogonadism 54 0.053
155
GLL031 Guillain-Barr� Syndrome 54 0.053
156
DND001 Dandy-Walker Syndrome 52 0.053
157
CNG046 Congenital Fiber-Type Disproportion 52 0.053
158
c SYN005 Synostosis 51 0.053
159
c CTR002 Cataract 48 0.053
160
3MS001 3-M Syndrome 45 0.053
161
HYP265 Hypotonia 43 0.053
162
c LBR029 Leber Congenital Amaurosis 17 38 0.053
163
GLD002 Goldberg-Shprintzen Megacolon Syndrome 35 0.053
164
INF006 Infant Botulism 34 0.053
165
c ATX010 Ataxia Neuropathy Spectrum 33 0.053
166
PHM001 Phimosis 32 0.053
167
ENT005 Entropion 30 0.053
168
MLT054 Multiple Pterygium Syndrome Escobar Type 30 0.053
169
15Q001 15q13.3 Microdeletion 29 0.053
170
JVN024 Juvenile Hereditary Hemochromatosis 28 0.053
171
LGP001 Lagophthalmos 26 0.053
172
PRN033 Paraneoplastic Neurologic Disorders 26 0.053
173
ORB013 Orbital Disease 25 0.053
174
c CNG112 Congenital Muscular Dystrophy Type 1a 24 0.053
175
16Q001 16q24.3 Microdeletion Syndrome 23 0.053
176
MNS009 Monosomy 13q14 22 0.053
177
c PPL028 Popliteal Pterygium Syndrome Lethal Type 12 0.053
178
P OBS005 Obesity 79 0.043
179
AND002 Androgen Insensitivity Syndrome 75 0.043
180
P LBR001 Leber Congenital Amaurosis 74 0.043
181
c NNN003 Noonan Syndrome 73 0.043
182
LKM002 Leukemia 70 0.043
183
HPT023 Hepatocellular Carcinoma 69 0.043
184
P LSH001 Leishmaniasis 65 0.043
185
ACT073 Acute Leukemia 62 0.043
186
P HLP001 Holoprosencephaly 61 0.043
187
P LBR002 Leber Hereditary Optic Neuropathy 59 0.043
188
P KLL001 Kallmann Syndrome 58 0.043
189
c CCK001 Cockayne Syndrome 58 0.043
190
CNT009 Central Core Myopathy 58 0.043
191
c ATX004 Ataxia 56 0.043
192
LGG001 Legg-Calve-Perthes Disease 56 0.043
193
P NNN008 Noonan Syndrome 1 56 0.043
194
P SHR029 Short Syndrome 55 0.043
195
CTN007 Cutaneous Leishmaniasis 55 0.043
196
KRN002 Kearns-Sayre Syndrome 53 0.043
197
APR001 Apraxia 52 0.043
198
c DST002 Distal Arthrogryposis 52 0.043
199
NRF007 Neurofibroma 51 0.043
200
P EXP004 Exophthalmos 51 0.043
201
LPC002 Lip Cancer 50 0.043
202
LYM026 Lymphoblastic Leukemia 49 0.043
203
P GLC007 Glaucoma 49 0.043
204
ANH002 Anhidrosis 48 0.043
205
P THR090 Thrombocythemia 1 48 0.043
206
KRT008 Keratopathy 47 0.043
207
DYS073 Dysphagia 42 0.043
208
CHR101 Char Syndrome 42 0.043
209
DBW001 Dubowitz Syndrome 42 0.043
210
P MYK002 Myokymia 40 0.043
211
c RDL002 Radioulnar Synostosis 39 0.043
212
c DMN027 Dominant Optic Atrophy 37 0.043
213
OP3001 Opa3-Related 3-Methylglutaconic Aciduria 36 0.043
214
EXT022 Exotropia 36 0.043
215
GNT006 Giant Papillary Conjunctivitis 32 0.043
216
TLS001 Tolosa-Hunt Syndrome 32 0.043
217
PPL019 Papillary Conjunctivitis 31 0.043
218
SYS006 Say Syndrome 29 0.043
219
MSM004 Mesomelia-Synostoses Syndrome 29 0.043
220
MBS001 Mobius Syndrome 29 0.043
221
P DST041 Distal Monosomy 3p 27 0.043
222
SLH001 Salih Myopathy 26 0.043
223
IRS007 Iris Hypoplasia 25 0.043
224
c BRC038 Brachydactyly Type B 24 0.043
225
6Q1001 6q16 Deletion Syndrome 24 0.043
226
BLP001 Blepharochalasis 23 0.043
227
P DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 23 0.043
228
TRC007 Tricuspid Valve Prolapse 21 0.043
229
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 21 0.043
230
c CNG047 Congenital Fibrosis of the Extraocular Muscles 20 0.043
231
P 19P001 19p13.12 Microdeletion Syndrome 19 0.043
232
AND005 Androgen Insensitivity Syndrome, Mild 19 0.043
233
HYP303 Hypogonadism, Hypergonadotropic 19 0.043
234
c BNG076 Benign Exophthalmos Syndrome 17 0.043
235
c CHR245 Chromosome 3q Deletion 16 0.043
236
21Q002 21q22.13q22.2 Microdeletion Syndrome 14 0.043
237
c ART104 Arthrogryposis, Distal, Type 5d 13 0.043
238
JWW001 Jaw-Winking Syndrome 12 0.043
239
P AMY001 Amyotrophic Lateral Sclerosis 87 0.031
240
P MLT019 Multiple Myeloma 76 0.031
241
P RFS001 Refsum Disease 73 0.031
242
P HRS001 Hirschsprung's Disease 72 0.031
243
P SMT004 Smith-Lemli-Opitz Syndrome 72 0.031
244
P TRN020 Turner Syndrome 71 0.031
245
KWS002 Kawasaki Disease 69 0.031
246
c DBT009 Diabetes Mellitus 68 0.031
247
P RBN001 Rubinstein-Taybi Syndrome 68 0.031
248
ADN018 Adenoma 67 0.031
249
CRZ001 Crouzon Syndrome 67 0.031
250
P ANG001 Angelman Syndrome 67 0.031
251
P UVT001 Uveitis 66 0.031
252
P CNG026 Congenital Heart Defect 65 0.031
253
P STH001 Saethre-Chotzen Syndrome 65 0.031
254
INF030 Infectious Mononucleosis 65 0.031
255
P ALX003 Alexander Disease 64 0.031
256
P TMP003 Temporal Arteritis 64 0.031
257
ART019 Aortic Valve Stenosis 64 0.031
258
P THY023 Thymoma 63 0.031
259
AMN001 Amenorrhea 63 0.031
260
P RTH001 Rothmund-Thomson Syndrome 63 0.031
261
LYM017 Lyme Disease 62 0.031
262
P MTH008 Methylmalonic Acidemia 62 0.031
263
P PRC019 Precocious Puberty 61 0.031
264
P CRD013 Cardiofaciocutaneous Syndrome 61 0.031
265
THR004 Thrombocytosis 61 0.031
266
P CHR071 Charcot-Marie-Tooth Disease 61 0.031
267
PRP030 Purpura 60 0.031
268
P DGR001 Digeorge Syndrome 60 0.031
269
TTN003 Tetanus 60 0.031
270
PRP001 Propionic Acidemia 60 0.031
271
P ADN016 Adenocarcinoma 60 0.031
272
P EPD003 Epidermolysis Bullosa Simplex 59 0.031
273
ALP008 Alopecia 59 0.031
274
c HYP086 Hypothyroidism 59 0.031
275
P CTS001 Cutis Laxa 59 0.031
276
ERD001 Erdheim-Chester Disease 58 0.031
277
HDC001 Headache 58 0.031
278
SMT015 Smith Magenis Syndrome 58 0.031
279
CRB042 Cerebellar Ataxia 57 0.031
280
GLD001 Goldenhar Syndrome 57 0.031
281
GNG013 Gingivitis 56 0.031
282
PTT006 Pituitary Adenoma 56 0.031
283
GYN001 Gynecomastia 56 0.031
284
KRT004 Keratitis 56 0.031
285
THR009 Thrombocytopenia-Absent Radius Syndrome 55 0.031
286
P PLY006 Polydactyly 55 0.031
287
ARS001 Aarskog-Scott Syndrome 55 0.031
288
c MCP009 Mucopolysaccharidosis Ii 54 0.031
289
LDD001 Ladd Syndrome 54 0.031
290
MNK003 Muenke Syndrome 54 0.031
291
P PLY019 Polyneuropathy 54 0.031
292
c BLN003 Blindness 54 0.031
293
c WRD001 Waardenburg's Syndrome 54 0.031
294
TTH006 Tooth Disease 54 0.031
295
NRP001 Neuropathy 54 0.031
296
c MYL007 Myeloma 53 0.031
297
THY089 Thymic Epithelial Neoplasm 53 0.031
298
c EPD016 Epidermolysis Bullosa 53 0.031
299
c SCL016 Scleroderma 53 0.031
300
P ATN005 Autonomic Dysfunction 52 0.031
301
PLS011 Plasmacytoma 52 0.031
302
ART001 Arterial Tortuosity Syndrome 52 0.031
303
P FTL006 Fetal Alcohol Spectrum Disorder 51 0.031
304
P PRT039 Proteinuria 51 0.031
305
FNC044 Fanconi Anemia, Complementation Group C 51 0.031
306
P HMN013 Hemangiopericytoma 51 0.031
307
CLS010 Cluster Headache 51 0.031
308
SNG010 Single Median Maxillary Central Incisor 50 0.031
309
c TRM003 Tremor 50 0.031
310
GLM004 Gliomatosis Cerebri 50 0.031
311
LMB002 Lambert-Eaton Myasthenic Syndrome 50 0.031
312
MGC001 Megacolon 50 0.031
313
WGR001 Wagr Syndrome 50 0.031
314
ADL002 Adult Syndrome 50 0.031
315
P MLS001 Melas Syndrome 50 0.031
316
P NTR001 Neutral Lipid Storage Disease 49 0.031
317
P LYM025 Lymphedema 49 0.031
318
PRM013 Premature Menopause 49 0.031
319
HDN002 Head Injury 49 0.031
320
JCK001 Jackson-Weiss Syndrome 49 0.031
321
c MYP011 Myopathy Congenital 48 0.031
322
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 48 0.031
323
CRN024 Corneal Disease 48 0.031
324
CNV002 Conversion Disorder 48 0.031
325
CFF001 Coffin-Siris Syndrome 47 0.031
326
CLF001 Cleft Lip 47 0.031
327
c KBK001 Kabuki Syndrome 47 0.031
328
BRJ001 Borjeson-Forssman-Lehmann Syndrome 47 0.031
329
ALL001 Allan-Herndon-Dudley Syndrome 47 0.031
330
P KRT007 Keratoconus 46 0.031
331
P ECT006 Ectodermal Dysplasia 46 0.031
332
SST001 Sost-Related Sclerosing Bone Dysplasia 46 0.031
333
CRN012 Craniometaphyseal Dysplasia 46 0.031
334
DGS001 Degos Disease 46 0.031
335
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 45 0.031
336
DYS018 Dysostosis 45 0.031
337
PLY020 Polyradiculoneuropathy 45 0.031
338
P JBR004 Joubert Syndrome 2 45 0.031
339
P MBS002 Moebius Syndrome 45 0.031
340
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44 0.031
341
RSD004 Rosai-Dorfman Disease 44 0.031
342
P OVR046 Ovarian Cyst 44 0.031
343
BRN003 Branchiooculofacial Syndrome 44 0.031
344
P KNS001 Kniest Dysplasia 44 0.031
345
FRM007 Freeman Sheldon Syndrome 43 0.031
346
CCH002 Coach Syndrome 42 0.031
347
c ANT034 Anterior Uveitis 42 0.031
348
RVL002 Ruvalcaba Syndrome 42 0.031
349
22Q001 22q11.2 Duplication 42 0.031
350
c MYT011 Myotonia 41 0.031
351
GST040 Gastric Adenocarcinoma 41 0.031
352
c HYP087 Hypotrichosis 41 0.031
353
GDS001 Good Syndrome 40 0.031
354
FTL007 Fetal Hydantoin Syndrome 40 0.031
355
P WRD007 Waardenburg Syndrome Type 2a 40 0.031
356
MCP016 Mecp2 Duplication Syndrome 39 0.031
357
c LPR012 Leopard Syndrome 1 39 0.031
358
AND003 Andersen-Tawil Syndrome 39 0.031
359
IRT001 Iritis 39 0.031
360
BRS090 Breast Reconstruction 39 0.031
361
PRT093 Proteus Syndrome, Somatic 39 0.031
362
EPD029 Epidermolysis Bullosa Simplex, Generalized 39 0.031
363
CRZ003 Crouzonodermoskeletal Syndrome 38 0.031
364
c WRD005 Waardenburg Syndrome Type I 38 0.031
365
DNR002 Duane-Radial Ray Syndrome 38 0.031
366
SPC005 Speech Disorder 38 0.031
367
HMF004 Hemifacial Spasm 37 0.031
368
CRT063 Creatine Transporter Deficiency 36 0.031
369
SPS003 Spastic Diplegia 36 0.031
370
c PTR004 Pterygium 36 0.031
371
c GLC030 Glaucoma, Congenital 35 0.031
372
c CRN035 Cranial Nerve Palsy 35 0.031
373
PHL006 Phelan-Mcdermid Syndrome 35 0.031
374
P PRX064 Peroxisome Biogenesis Disorder 2b 35 0.031
375
LMB010 Lambert Syndrome 35 0.031
376
EFM001 Efemp2-Related Cutis Laxa 35 0.031
377
OCL014 Oculofaciocardiodental Syndrome 35 0.031
378
MTR046 Maternally Inherited Diabetes and Deafness 35 0.031
379
WND001 Wound Botulism 35 0.031
380
P CRN139 Cornelia De Lange Syndrome 1 34 0.031
381
HDR001 Hidrocystoma 34 0.031
382
P 2Q3002 2q37 Microdeletion Syndrome 34 0.031
383
ARC004 Arc Syndrome 34 0.031
384
P RBN011 Robinow Syndrome, Autosomal Dominant 34 0.031
385
HYP264 Hypertonia 34 0.031
386
TRS007 Trismus-Pseudocamptodactyly Syndrome 34 0.031
387
P ACR054 Aicardi-Goutieres Syndrome Type 5 33 0.031
388
NGR001 Nager Acrofacial Dysostosis 33 0.031
389
FCS005 Faces Syndrome 33 0.031
390
CRN077 Cranio Osteoarthropathy 33 0.031
391
DYS036 Dysequilibrium Syndrome 32 0.031
392
P EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 32 0.031
393
P ATS061 Autosomal Recessive Hypotrichosis 32 0.031
394
IRD001 Iridocyclitis 32 0.031
395
ADS002 Adie Syndrome 32 0.031
396
ELP001 Elephantiasis 32 0.031
397
PRG031 Progressive Hemifacial Atrophy 31 0.031
398
P RNG004 Ring Chromosome 1 31 0.031
399
P DNS004 Duane Syndrome Type 2 31 0.031
400
c JBR007 Joubert Syndrome with Renal Anomalies 30 0.031
401
MYH012 Myhre Syndrome 30 0.031
402
P EHL009 Ehlers-Danlos Syndrome Type Iv 30 0.031
403
c RBN009 Robinow Syndrome, Autosomal Recessive 29 0.031
404
SCH035 Schwartz Jampel Syndrome Type 1 29 0.031
405
P HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 29 0.031
406
c WRD009 Waardenburg Syndrome Type 3 28 0.031
407
c JBR024 Joubert Syndrome 14 28 0.031
408
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 28 0.031
409
SHP002 Shprintzen-Goldberg Syndrome 27 0.031
410
INT042 Internuclear Ophthalmoplegia 27 0.031
411
BRK004 Barakat Syndrome 27 0.031
412
XLN011 X-Linked Centronuclear Myopathy 27 0.031
413
P KBK002 Kabuki Syndrome 1 27 0.031
414
P PRR020 Perrault Syndrome 1 26 0.031
415
ART007 Aorta Atresia 26 0.031
416
c MRD002 Marden-Walker Syndrome 26 0.031
417
GRM003 German Syndrome 26 0.031
418
LTR009 Lateral Meningocele Syndrome 26 0.031
419
c 2P2001 2p21 Microdeletion Syndrome 25 0.031
420
P KLN006 Koolen-De Vries Syndrome 25 0.031
421
MTC061 Mitochondrial Dna Depletion Syndrome 1 24 0.031
422
c JBR016 Joubert Syndrome 10 24 0.031
423
CHN018 Chondrodysplasia Punctata 2, X-Linked 24 0.031
424
CRD019 Cardiocranial Syndrome 24 0.031
425
c CHR209 Chromosome 17p Duplication 24 0.031
426
FRN022 Frontofacionasal Dysplasia 24 0.031
427
WTS001 Watson Syndrome 23 0.031
428
ZNC001 Zunich Neuroectodermal Syndrome 23 0.031
429
HYP347 Hypotonia-Cystinuria Syndrome 23 0.031
430
c DLT006 Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 22 0.031
431
LTH002 Lathosterolosis 22 0.031
432
HYP048 Hypotropia 22 0.031
433
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 22 0.031
434
P CHR259 Chromosome 6q25 Microdeletion Syndrome 22 0.031
435
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 22 0.031
436
VRN001 Vernal Conjunctivitis 22 0.031
437
P INT006 Intestinal Botulism 21 0.031
438
JBR008 Juberg-Hayward Syndrome 21 0.031
439
LNR005 Linear Scleroderma 21 0.031
440
SYN016 Syndactyly Cenani Lenz Type 21 0.031
441
GGN004 Gigantomastia 21 0.031
442
EXP002 Exposure Keratitis 21 0.031
443
ORB007 Orbital Cyst 20 0.031
444
FDB001 Foodborne Botulism 19 0.031
445
ASC005 Ascher's Syndrome 19 0.031
446
c BRC050 Brachydactyly Type D 19 0.031
447
P MNS007 Monosomy 18p 18 0.031
448
HRT030 Hartsfield Syndrome 18 0.031
449
FNT003 Fountain Syndrome 17 0.031
450
OCL003 Oculomotor Nerve Paralysis 17 0.031
451
P TTR017 Tetrasomy 12p 17 0.031
452
c EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 17 0.031
453
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 17 0.031
454
MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 17 0.031
455
WCK003 Wieacker-Wolf Syndrome 16 0.031
456
BRC019 Brachycephalofrontonasal Dysplasia 16 0.031
457
MCD002 Mcdonough Syndrome 16 0.031
458
ACR033 Acrofrontofacionasal Dysostosis Syndrome 16 0.031
459
c MSC016 Mosaic Trisomy 14 16 0.031
460
c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 16 0.031
461
2P1002 2p15p16.1 Microdeletion Syndrome 16 0.031
462
PSD045 Pseudoprogeria Syndrome 15 0.031
463
SCR025 Scarf Syndrome 15 0.031
464
c CHR187 Chromosome 11q Deletion 15 0.031
465
MCH010 Michels Syndrome 15 0.031
466
CRN190 Craniosynostosis - Fibular Aplasia 15 0.031
467
CNG118 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 15 0.031
468
NGB001 Naguib-Richieri-Costa Syndrome 15 0.031
469
c 8Q2001 8q21.11 Microdeletion Syndrome 15 0.031
470
CDS002 Codas Syndrome 15 0.031
471
CNT091 Cant� Syndrome 15 0.031
472
HYP474 Hypertrichosis Cubiti - Short Stature 15 0.031
473
MTC059 Mitochondrial Dna Depletion Syndrome 5 14 0.031
474
P ISC010 Isochromosome Yp 14 0.031
475
TBS002 Teebi Shaltout Syndrome 14 0.031
476
PCH008 Pachygyria - Epilepsy - Intellectual Deficit - Dysmorphism 14 0.031
477
P MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 14 0.031
478
DRM023 Dermoodontodysplasia 14 0.031
479
NTV001 Native American Myopathy 14 0.031
480
c CNG333 Congenital Horner Syndrome 14 0.031
481
c CHR250 Chromosome 4q Duplication 14 0.031
482
BRD023 Bird Headed Dwarfism Montreal Type 14 0.031
483
ANR012 Aniridia Absent Patella 14 0.031
484
PLY088 Polyvalvular Heart Disease Syndrome 14 0.031
485
GRW019 Growth Deficiency - Brachydactyly - Dysmorphism 13 0.031
486
NSD003 Nasodigitoacoustic Syndrome 13 0.031
487
OTP003 Oto-Palatal-Digital Syndrome 13 0.031
488
P DST036 Distal Trisomy 15q 13 0.031
489
MCR047 Microcephaly Cervical Spine Fusion Anomalies 13 0.031
490
XLN073 X-Linked Mandibulofacial Dysostosis 13 0.031
491
3PD001 3p Deletion Syndrome 13 0.031
492
NRF010 Neurofaciodigitorenal Syndrome 13 0.031
493
PLY046 Polysyndactyly Cardiac Malformation 13 0.031
494
KPL001 Kaplan Plauchu Fitch Syndrome 12 0.031
495
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 12 0.031
496
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12 0.031
497
c FML093 Familial Visceral Myopathy with External Ophthalmoplegia 12 0.031
498
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 12 0.031
499
INT177 Intellectual Deficit, X-Linked - Dysmorphism - Cerebral Atrophy 12 0.031
500
RZN001 Rozin Hertz Goodman Syndrome 12 0.031
501
CRB129 Cerebro-Reno-Digital Syndrome 12 0.031
502
CLF021 Cleft Palate X-Linked 12 0.031
503
TLH001 Tel Hashomer Camptodactyly Syndrome 12 0.031
504
c ADL069 Adult Intestinal Botulism 11 0.031
505
PTR017 Pterygium Colli - Intellectual Deficit - Digital Anomalies 11 0.031
506
DLY006 Delayed Speech - Facial Asymmetry - Strabismus - Ear Lobe Creases 11 0.031
507
HPT065 Hepatic Fibrosis - Renal Cysts - Intellectual Deficit 11 0.031
508
MRL004 Morillo-Cucci-Passarge Syndrome 11 0.031
509
c CHR252 Chromosome 5p Duplication 11 0.031
510
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 11 0.031
511
BLP014 Blepharoptosis Myopia Ectopia Lentis 11 0.031
512
MSC027 Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 11 0.031
513
NND004 Non-Distal Monosomy 10q 10 0.031
514
INT174 Intellectual Deficit - Myopathy - Short Stature - Endocrine Defect 10 0.031
515
c DST045 Distal Trisomy 6p 10 0.031
516
DFN225 Deafness - Small Bowel Diverticulosis - Neuropathy 10 0.031
517
ITR001 Iatrogenic Botulism 10 0.031
518
RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 10 0.031
519
c SPN113 Spinocerebellar Ataxia with Dysmorphism 10 0.031
520
LNG055 Langer Mesomelic Dwarfism 10 0.031
521
PST075 Posterior Fusion of Lumbosacral Vertebrae - Blepharoptosis 10 0.031
522
KZL001 Kozlowski Brown Hardwick Syndrome 10 0.031
523
SVR009 Seaver Cassidy Syndrome 10 0.031
524
ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 10 0.031
525
PRP071 Paraplegia - Intellectual Deficit - Hyperkeratosis 9 0.031
526
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 9 0.031
527
PRP070 Peripheral Precocious Puberty 9 0.031
528
FLL044 Fallot Complex - Intellectual Deficit - Growth Delay 9 0.031
529
MTC065 Mitochondrial Dna Depletion Syndrome 8a 9 0.031
530
INH013 Inhalational Botulism 9 0.031
531
INT168 Intellectual Deficit-Unusual Facies, Davis-Lafer Type 9 0.031
532
ALT003 Alternating Exotropia 9 0.031
533
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 9 0.031
534
c DMN008 Dominant Cleft Palate 8 0.031
535
OPH008 Ophthalmoplegia - Intellectual Deficit - Lingua Scrotalis 8 0.031
536
UVL005 Uveal Coloboma - Cleft Lip and Palate - Intellectual Deficit 8 0.031
537
c ART039 Arthrogryposis Due to Muscular Dystrophy 8 0.031
538
c MSC024 Muscular Dystrophy - Late Onset 8 0.031
539
DYS131 Dysmorphism - Short Stature - Deafness - Disorder of Sex Development 8 0.031
540
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 8 0.031
541
MCR174 Macrocephaly - Short Stature - Paraplegia 8 0.031
542
TRG014 Trigonocephaly - Broad Thumbs 8 0.031
543
SHR053 Short Stature - Valvular Heart Disease - Characteristic Facies 8 0.031
544
VSC038 Visceral Neuropathy - Brain Anomalies - Facial Dysmorphism - Developmental Delay 8 0.031
545
NGH011 Night Blindness - Skeletal Anomalies - Dysmorphism 8 0.031
546
TRC082 Trichodermal Syndrome - Intellectual Deficit 7 0.031
547
TMB001 Tome Brunet Fardeau Syndrome 7 0.031
548
EYB003 Eyebrow Duplication - Syndactyly 6 0.031
549
MCH001 Mechanical Ectropion 6 0.031
550
MCR196 Macrostomia - Preauricular Tags - External Ophthalmoplegia 6 0.031
551
PRP069 Purpura Simplex 6 0.031
552
BLP023 Blepharoptosis - Cleft Palate - Ectrodactyly - Dental Anomalies 6 0.031
553
CNT070 Centronuclear Myopathy, Autosomal, Modifier of 5 0.031
554
MCH005 Mechanical Lagophthalmos 4 0.031
555
KNG003 Konigsmark Knox Hussels Syndrome 4 0.031
556
OPH009 Ophthalmoplegia - Myalgia - Tubular Aggregates 4 0.031
557
BRC023 Brachydactyly Dwarfism Mental Retardation 2 0.031