Search results for ofd1

212 hits were found for ofd1

# Family MCID Name MIFTS Score
1
c ORF037 Orofaciodigital Syndrome I 59 91.821
2
c SPN101 Spinocerebellar Ataxia 29 58 57.105
3
c JBR016 Joubert Syndrome 10 44 36.950
4
P JBR020 Joubert Syndrome 1 74 35.890
5
c RTN052 Retinitis Pigmentosa 23 37 32.574
6
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40 31.602
7
P RTN008 Retinitis Pigmentosa 79 30.306
8
P PRM011 Primary Ciliary Dyskinesia 68 28.824
9
c ORF034 Orofaciodigital Syndrome Vi 55 26.878
10
P ORF001 Orofaciodigital Syndrome 50 20.778
11
c CLR131 Ciliary Dyskinesia, Primary, 1 62 20.308
12
P SMP003 Simpson-Golabi-Behmel Syndrome 49 16.324
13
P PLY006 Polydactyly 58 13.666
14
P PLY014 Polycystic Kidney Disease 71 11.888
15
P LSS002 Lissencephaly 52 11.119
16
P BRC006 Brachydactyly 52 10.680
17
CLF027 Cleft Palate, Isolated 64 9.709
18
P MCK013 Meckel Syndrome, Type 1 64 9.360
19
SGR001 Sugarman Brachydactyly 33 8.936
20
c ORF038 Orofaciodigital Syndrome Iii 36 8.936
21
FND002 Fundus Dystrophy 54 8.635
22
P BRD002 Bardet-Biedl Syndrome 66 8.121
23
CHR619 Chromosome 2q35 Duplication Syndrome 64 8.052
24
c BRD016 Bardet-Biedl Syndrome 4 44 7.855
25
P CYS039 Cystic Kidney Disease 52 7.623
26
LBR036 Leber Plus Disease 67 7.441
27
CLB010 Coloboma of Macula 53 7.340
28
P PRN026 Porencephaly 54 7.295
29
c ORF035 Orofaciodigital Syndrome Iv 50 7.262
30
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 6.887
31
P NPH005 Nephronophthisis 59 6.865
32
CRB053 Cerebellar Agenesis 16 6.842
33
P ORF002 Orofacial Cleft 43 6.619
34
PLY023 Polycystic Liver Disease 62 6.560
35
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66 6.560
36
P CRN323 Cranioectodermal Dysplasia 58 6.560
37
P SNR003 Senior-Loken Syndrome 1 58 6.560
38
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 6.560
39
c ORF033 Orofaciodigital Syndrome V 43 6.560
40
TTH002 Tooth Agenesis 61 6.560
41
ASP005 Asphyxiating Thoracic Dystrophy 47 6.560
42
c RTN056 Retinitis Pigmentosa 28 39 6.419
43
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34 6.419
44
KRT010 Kartagener Syndrome 49 6.419
45
P VSC013 Visceral Heterotaxy 53 6.419
46
ELL001 Ellis-Van Creveld Syndrome 61 6.419
47
P CCH009 Coach Syndrome 1 54 6.419
48
CLB003 Coloboma of Optic Nerve 44 6.419
49
c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55 6.419
50
c NPH030 Nephronophthisis 2 50 6.419
51
c RTN063 Retinitis Pigmentosa 34 25 6.419
52
c JBR018 Joubert Syndrome 4 53 6.419
53
c CLR069 Ciliary Dyskinesia, Primary, 8 28 6.419
54
c JBR013 Joubert Syndrome 8 45 6.419
55
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 6.419
56
c JBR028 Joubert Syndrome 13 43 6.419
57
c MCK032 Meckel Syndrome, Type 3 49 6.419
58
c JBR041 Joubert Syndrome 3 53 6.419
59
c JBR012 Joubert Syndrome 5 48 6.419
60
c CLR067 Ciliary Dyskinesia, Primary, 4 27 6.419
61
c JBR004 Joubert Syndrome 2 49 6.419
62
PHY002 Physical Disorder 40 6.419
63
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 4.156
64
CLP005 Ciliopathy 40 3.787
65
NRR001 Neuroretinitis 42 2.499
66
RTN023 Retinitis 45 2.499
67
DSS008 Disease of Mental Health 74 2.415
68
P HYD006 Hydrocephalus 62 1.862
69
END086 End Stage Renal Disease 54 1.689
70
P RTN016 Retinal Degeneration 52 1.617
71
P PLY147 Polydactyly, Postaxial, Type A1 52 1.394
72
CKT002 Cakut 48 1.394
73
P NLD001 Nail Disease 52 1.394
74
RRG006 Rare Genetic Intellectual Disability 28 1.394
75
PRT251 Proteinuria, Chronic Benign 58 1.240
76
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 1.164
77
P KDN018 Kidney Disease 71 1.144
78
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 1.122
79
c LBR015 Leber Congenital Amaurosis 5 42 1.099
80
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.075
81
P SNS001 Sensorineural Hearing Loss 60 1.075
82
c CHR684 Chronic Kidney Disease 73 1.075
83
PNS014 Penis Agenesis 38 1.075
84
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 1.021
85
P TTR001 Tetralogy of Fallot 69 1.021
86
P MLN007 Male Infertility 56 1.021
87
P INF032 Infertility 60 1.021
88
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 1.021
89
ORP003 Oropharynx Cancer 54 1.021
90
STS002 Situs Inversus 44 1.021
91
PCH002 Pachygyria 31 1.021
92
HYP266 Hypoxia 56 1.021
93
c ORF045 Orofaciodigital Syndrome Xv 22 0.920
94
GRG001 Greig Cephalopolysyndactyly Syndrome 64 0.920
95
P PLL001 Pallister-Hall Syndrome 62 0.920
96
ANT039 Antisynthetase Syndrome 55 0.829
97
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.817
98
PLY024 Polymicrogyria 48 0.817
99
P ATS364 Autism 72 0.743
100
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.676
101
TRT020 Tritanopia 49 0.676
102
NRT004 Neuritis 53 0.676
103
P ACN011 Acne 55 0.676
104
P OPT009 Optic Neuritis 57 0.676
105
P NGH001 Night Blindness 52 0.676
106
CLF001 Cleft Lip 54 0.614
107
P PNC035 Pancreatic Cancer 87 0.602
108
CLF004 Cleft Lip/palate 56 0.546
109
TLC001 Telecanthus 34 0.467
110
IFP003 Ifap Syndrome 2 41 0.399
111
HYP080 Hypogonadism 49 0.399
112
c BRD010 Bardet-Biedl Syndrome 1 64 0.345
113
MYL069 Myeloma, Multiple 76 0.345
114
c MCR250 Microcephaly 6, Primary, Autosomal Recessive 42 0.345
115
c ORF036 Orofaciodigital Syndrome Xiv 31 0.345
116
P MCR010 Microcephaly 59 0.345
117
MNC006 Monoclonal Gammopathy of Uncertain Significance 47 0.345
118
CLF056 Cleft Lip with or Without Cleft Palate 43 0.345
119
CRP032 Corpus Callosum, Agenesis of 49 0.315
120
c BRN108 Branchiootic Syndrome 1 63 0.282
121
P KLF001 Kleefstra Syndrome 46 0.282
122
c LSS005 Lissencephaly 1 57 0.244
123
c BRD018 Bardet-Biedl Syndrome 6 50 0.244
124
P ALP008 Alopecia 53 0.244
125
P AVS003 Avascular Necrosis 41 0.244
126
c INH030 Inherited Retinal Disorder 28 0.244
127
P HYP265 Hypotonia 42 0.244
128
ISL109 Isolated Cleft Lip 33 0.244
129
P PTS002 Ptosis 52 0.199
130
TTH030 Teeth, Supernumerary 32 0.199
131
c NPH032 Nephronophthisis 4 46 0.199
132
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.199
133
P STR020 Strabismus 56 0.199
134
c JBR025 Joubert Syndrome 17 45 0.199
135
HYP748 Hypertelorism 46 0.199
136
SLP001 Sleeping Sickness 56 0.199
137
P BRN022 Bronchiectasis 59 0.199
138
MCH006 Mechanical Strabismus 40 0.199
139
c ATS007 Autism Spectrum Disorder 71 0.141
140
APR001 Apraxia 51 0.141
141
P SCL018 Scoliosis 57 0.141
142
IDP070 Idiopathic Scoliosis 41 0.141
143
c ORF046 Orofaciodigital Syndrome Xvi 25 0.141
144
c CNG513 Congenital Ptosis 43 0.141
145
P FTL069 Fetal Akinesia Deformation Sequence 1 63 0.141
146
c NRF024 Neurofibromatosis, Type I 76 0.141
147
P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51 0.141
148
P SCL057 Scoliosis, Isolated 1 40 0.141
149
c GLY007 Glycogen Storage Disease Iv 58 0.141
150
c CRN139 Cornelia De Lange Syndrome 1 61 0.141
151
P THN009 Thanatophoric Dysplasia, Type I 62 0.141
152
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 53 0.141
153
c OPT023 Optic Atrophy 2 31 0.141
154
P PRR016 Pierre Robin Syndrome 50 0.141
155
ACR012 Aicardi Syndrome 46 0.141
156
MHR001 Mohr-Tranebjaerg Syndrome 49 0.141
157
FCL009 Focal Dermal Hypoplasia 63 0.141
158
c MCK031 Meckel Syndrome, Type 2 47 0.141
159
BRT054 Brittle Bone Disorder 74 0.141
160
ART002 Arts Syndrome 66 0.141
161
MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 38 0.141
162
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.141
163
c MCK012 Meckel Syndrome, Type 6 47 0.141
164
c JBR014 Joubert Syndrome 9 46 0.141
165
CHR103 Charge Syndrome 65 0.141
166
c DPH024 Diaphragmatic Hernia, Congenital 63 0.141
167
P LRS001 Larsen Syndrome 61 0.141
168
c NPH019 Nephronophthisis 1 50 0.141
169
ARM010 Arima Syndrome 56 0.141
170
P FRG001 Fragile X Syndrome 70 0.141
171
VND004 Van Der Woude Syndrome 2 24 0.141
172
c SNR007 Senior-Loken Syndrome 7 26 0.141
173
c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45 0.141
174
HMF006 Hemifacial Microsomia 55 0.141
175
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.141
176
P VND007 Van Der Woude Syndrome 1 60 0.141
177
P CNR004 Cone-Rod Dystrophy 2 74 0.141
178
c CRN278 Craniosynostosis 1 55 0.141
179
ACR058 Acrofacial Dysostosis 1, Nager Type 49 0.141
180
P TRC072 Treacher Collins Syndrome 1 62 0.141
181
c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 48 0.141
182
HMN044 Human Immunodeficiency Virus Type 1 76 0.141
183
c SPL067 Split-Hand/foot Malformation 1 46 0.141
184
FRY002 Fryns Syndrome 39 0.141
185
P CRN037 Craniosynostosis 67 0.141
186
MYL031 Myeloproliferative Neoplasm 66 0.141
187
P ECT006 Ectodermal Dysplasia 62 0.141
188
P GLY013 Glycogen Storage Disease 59 0.141
189
c BRD047 Bardet-Biedl Syndrome 16 46 0.141
190
P STC001 Stickler Syndrome 60 0.141
191
P HYP087 Hypotrichosis 41 0.141
192
P KDN017 Kidney Cancer 60 0.141
193
P LVR013 Liver Disease 68 0.141
194
P CNG001 Congenital Myasthenic Syndrome 68 0.141
195
P HLP001 Holoprosencephaly 68 0.141
196
PTS001 Patau Syndrome 55 0.141
197
P CRN015 Cornelia De Lange Syndrome 67 0.141
198
P CTR002 Cataract 59 0.141
199
P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 35 0.141
200
PTH003 Pathologic Nystagmus 52 0.141
201
P ENC008 Encephalocele 46 0.141
202
CHR178 Chromosomal Triplication 33 0.141
203
HMM003 Hemimegalencephaly 53 0.141
204
P RTN220 Retinal Ciliopathy 23 0.141
205
ISL121 Isolated Split Hand-Split Foot Malformation 42 0.141
206
ISL075 Isolated Pierre Robin Sequence 29 0.141
207
OCL015 Oculomotor Apraxia 39 0.141
208
CNT108 Central Polydactyly 14 0.141
209
CRN051 Craniofacial Microsomia 28 0.141
210
ORF053 Orofacial Clefting Syndrome 31 0.141
211
OCC011 Occipital Encephalocele 27 0.141
212
P OVR082 Overgrowth Syndrome 41 0.141
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