Search results for OFD1

200 hits were found for OFD1

# Family MCID Name MIFTS Score
1
c ORF037 Orofaciodigital Syndrome I 59 101.043
2
c SPN101 Spinocerebellar Ataxia 29 54 54.353
3
c JBR016 Joubert Syndrome 10 42 40.049
4
P JBR020 Joubert Syndrome 1 74 39.138
5
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40 34.906
6
c RTN052 Retinitis Pigmentosa 23 37 33.596
7
P RTN008 Retinitis Pigmentosa 80 33.296
8
P PRM011 Primary Ciliary Dyskinesia 69 30.862
9
c ORF034 Orofaciodigital Syndrome Vi 55 27.787
10
P ORF001 Orofaciodigital Syndrome 50 27.742
11
c CLR131 Ciliary Dyskinesia, Primary, 1 61 20.281
12
P SMP003 Simpson-Golabi-Behmel Syndrome 49 19.332
13
P PLY014 Polycystic Kidney Disease 69 15.412
14
P PLY006 Polydactyly 59 14.349
15
P BRC006 Brachydactyly 51 12.648
16
CLF027 Cleft Palate, Isolated 64 11.619
17
P LSS002 Lissencephaly 50 11.103
18
P BRD002 Bardet-Biedl Syndrome 66 10.397
19
P MCK013 Meckel Syndrome, Type 1 64 10.208
20
c BRD016 Bardet-Biedl Syndrome 4 44 10.168
21
CHR619 Chromosome 2q35 Duplication Syndrome 64 10.114
22
FND002 Fundus Dystrophy 55 9.367
23
P CYS039 Cystic Kidney Disease 53 9.230
24
SGR001 Sugarman Brachydactyly 32 8.926
25
c ORF038 Orofaciodigital Syndrome Iii 36 8.926
26
CLP005 Ciliopathy 41 8.520
27
LBR036 Leber Plus Disease 66 8.492
28
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 8.304
29
P NPH005 Nephronophthisis 56 8.216
30
CRB053 Cerebellar Agenesis 16 8.123
31
CLB003 Coloboma of Optic Nerve 41 8.082
32
CLB010 Coloboma of Macula 53 8.082
33
P PRN026 Porencephaly 55 7.901
34
c ORF035 Orofaciodigital Syndrome Iv 48 7.252
35
P ORF002 Orofacial Cleft 43 7.218
36
c ORF033 Orofaciodigital Syndrome V 43 6.981
37
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 6.981
38
PLY023 Polycystic Liver Disease 60 6.981
39
TTH002 Tooth Agenesis 61 6.981
40
P CRN323 Cranioectodermal Dysplasia 58 6.981
41
ASP005 Asphyxiating Thoracic Dystrophy 47 6.981
42
P SNR003 Senior-Loken Syndrome 1 58 6.981
43
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 6.555
44
c MCK032 Meckel Syndrome, Type 3 49 6.410
45
c RTN063 Retinitis Pigmentosa 34 25 6.410
46
c NPH030 Nephronophthisis 2 49 6.410
47
P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 6.410
48
c JBR004 Joubert Syndrome 2 48 6.410
49
c CLR067 Ciliary Dyskinesia, Primary, 4 27 6.410
50
c JBR028 Joubert Syndrome 13 41 6.410
51
P VSC013 Visceral Heterotaxy 53 6.410
52
PHY002 Physical Disorder 41 6.410
53
ELL001 Ellis-Van Creveld Syndrome 62 6.410
54
c RTN056 Retinitis Pigmentosa 28 39 6.410
55
c CLR069 Ciliary Dyskinesia, Primary, 8 28 6.410
56
c JBR013 Joubert Syndrome 8 44 6.410
57
c JBR012 Joubert Syndrome 5 47 6.410
58
c JBR041 Joubert Syndrome 3 53 6.410
59
P CCH009 Coach Syndrome 1 54 6.410
60
c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 56 6.410
61
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 6.410
62
c JBR018 Joubert Syndrome 4 52 6.410
63
KRT010 Kartagener Syndrome 49 6.410
64
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34 6.410
65
NRR001 Neuroretinitis 42 5.524
66
RTN023 Retinitis 46 5.524
67
P HYD006 Hydrocephalus 61 3.980
68
END086 End Stage Renal Disease 52 3.933
69
P RTN016 Retinal Degeneration 52 3.644
70
P KDN018 Kidney Disease 72 3.250
71
PRT251 Proteinuria, Chronic Benign 57 2.967
72
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 2.661
73
CLF001 Cleft Lip 53 2.489
74
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 2.489
75
DSS008 Disease of Mental Health 74 2.410
76
c LBR015 Leber Congenital Amaurosis 5 42 2.396
77
P SNS001 Sensorineural Hearing Loss 59 2.298
78
PNS014 Penis Agenesis 36 2.298
79
CLF004 Cleft Lip/palate 57 2.212
80
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 61 2.082
81
P TTR001 Tetralogy of Fallot 69 2.082
82
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 2.082
83
STS002 Situs Inversus 45 2.082
84
P MLN007 Male Infertility 56 2.082
85
ORP003 Oropharynx Cancer 55 2.082
86
HYP266 Hypoxia 57 2.082
87
PCH002 Pachygyria 32 2.082
88
TLC001 Telecanthus 35 1.894
89
P PLL001 Pallister-Hall Syndrome 62 1.672
90
c ORF045 Orofaciodigital Syndrome Xv 20 1.672
91
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.615
92
HYP080 Hypogonadism 50 1.615
93
c BRD010 Bardet-Biedl Syndrome 1 64 1.399
94
c ORF036 Orofaciodigital Syndrome Xiv 30 1.399
95
MYL069 Myeloma, Multiple 77 1.399
96
c MCR250 Microcephaly 6, Primary, Autosomal Recessive 43 1.399
97
CLF056 Cleft Lip with or Without Cleft Palate 42 1.399
98
MNC006 Monoclonal Gammopathy of Uncertain Significance 47 1.399
99
P MCR010 Microcephaly 60 1.399
100
P PLY147 Polydactyly, Postaxial, Type A1 48 1.391
101
CKT002 Cakut 47 1.391
102
RRG006 Rare Genetic Intellectual Disability 26 1.391
103
P NLD001 Nail Disease 51 1.391
104
CRP032 Corpus Callosum, Agenesis of 49 1.277
105
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 1.254
106
PLY024 Polymicrogyria 47 1.254
107
P ATS364 Autism 69 1.173
108
P KLF001 Kleefstra Syndrome 46 1.142
109
c BRN108 Branchiootic Syndrome 1 62 1.142
110
ISL109 Isolated Cleft Lip 33 0.989
111
c INH030 Inherited Retinal Disorder 28 0.989
112
P AVS003 Avascular Necrosis 41 0.989
113
c LSS005 Lissencephaly 1 57 0.989
114
c BRD018 Bardet-Biedl Syndrome 6 49 0.989
115
P ALP008 Alopecia 54 0.989
116
P HYP265 Hypotonia 42 0.989
117
ANT039 Antisynthetase Syndrome 55 0.828
118
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.808
119
TTH030 Teeth, Supernumerary 33 0.808
120
P STR020 Strabismus 56 0.808
121
HYP748 Hypertelorism 46 0.808
122
c NPH032 Nephronophthisis 4 46 0.808
123
MCH006 Mechanical Strabismus 40 0.808
124
SLP001 Sleeping Sickness 56 0.808
125
P PTS002 Ptosis 52 0.808
126
P BRN022 Bronchiectasis 60 0.808
127
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.683
128
TRT020 Tritanopia 50 0.683
129
P ACN011 Acne 57 0.683
130
P NGH001 Night Blindness 52 0.683
131
P OPT009 Optic Neuritis 57 0.683
132
NRT004 Neuritis 53 0.683
133
P PNC035 Pancreatic Cancer 86 0.602
134
P RTN220 Retinal Ciliopathy 22 0.571
135
CNT108 Central Polydactyly 14 0.571
136
OCL015 Oculomotor Apraxia 39 0.571
137
P OVR082 Overgrowth Syndrome 49 0.571
138
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 54 0.571
139
P FRG001 Fragile X Syndrome 70 0.571
140
ART002 Arts Syndrome 66 0.571
141
MHR001 Mohr-Tranebjaerg Syndrome 49 0.571
142
FCL009 Focal Dermal Hypoplasia 64 0.571
143
BRT054 Brittle Bone Disorder 74 0.571
144
ACR058 Acrofacial Dysostosis 1, Nager Type 49 0.571
145
P TRC072 Treacher Collins Syndrome 1 62 0.571
146
HMF006 Hemifacial Microsomia 55 0.571
147
c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 47 0.571
148
P VND007 Van Der Woude Syndrome 1 60 0.571
149
P CNR004 Cone-Rod Dystrophy 2 74 0.571
150
c CRN139 Cornelia De Lange Syndrome 1 61 0.571
151
P THN009 Thanatophoric Dysplasia, Type I 63 0.571
152
P FTL069 Fetal Akinesia Deformation Sequence 1 63 0.571
153
c GLY007 Glycogen Storage Disease Iv 58 0.571
154
HMN044 Human Immunodeficiency Virus Type 1 78 0.571
155
c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45 0.571
156
c ATS007 Autism Spectrum Disorder 72 0.571
157
APR001 Apraxia 52 0.571
158
c OPT023 Optic Atrophy 2 32 0.571
159
CHR103 Charge Syndrome 66 0.571
160
c NPH019 Nephronophthisis 1 52 0.571
161
P LRS001 Larsen Syndrome 61 0.571
162
c DPH024 Diaphragmatic Hernia, Congenital 64 0.571
163
c SPL067 Split-Hand/foot Malformation 1 46 0.571
164
c MCK031 Meckel Syndrome, Type 2 45 0.571
165
c MCK012 Meckel Syndrome, Type 6 46 0.571
166
c BRD047 Bardet-Biedl Syndrome 16 46 0.571
167
c ORF046 Orofaciodigital Syndrome Xvi 24 0.571
168
c SNR007 Senior-Loken Syndrome 7 25 0.571
169
ACR012 Aicardi Syndrome 45 0.571
170
FRY002 Fryns Syndrome 39 0.571
171
P SCL057 Scoliosis, Isolated 1 40 0.571
172
P PRR016 Pierre Robin Syndrome 50 0.571
173
RNL114 Renal Cell Carcinoma, Nonpapillary 80 0.571
174
P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51 0.571
175
VND004 Van Der Woude Syndrome 2 24 0.571
176
P SCL018 Scoliosis 57 0.571
177
P HYP087 Hypotrichosis 42 0.571
178
P HLP001 Holoprosencephaly 69 0.571
179
ORF053 Orofacial Clefting Syndrome 31 0.571
180
ISL121 Isolated Split Hand-Split Foot Malformation 41 0.571
181
OCC011 Occipital Encephalocele 26 0.571
182
P LVR013 Liver Disease 69 0.571
183
P CTR002 Cataract 60 0.571
184
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.571
185
P ECT006 Ectodermal Dysplasia 63 0.571
186
MYL031 Myeloproliferative Neoplasm 66 0.571
187
P GLY013 Glycogen Storage Disease 60 0.571
188
P STC001 Stickler Syndrome 60 0.571
189
PTS001 Patau Syndrome 56 0.571
190
P CRN015 Cornelia De Lange Syndrome 67 0.571
191
P KDN017 Kidney Cancer 61 0.571
192
c CNG513 Congenital Ptosis 42 0.571
193
IDP070 Idiopathic Scoliosis 42 0.571
194
PTH003 Pathologic Nystagmus 52 0.571
195
ISL075 Isolated Pierre Robin Sequence 29 0.571
196
P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 34 0.571
197
CHR178 Chromosomal Triplication 34 0.571
198
CRN051 Craniofacial Microsomia 28 0.571
199
P ENC008 Encephalocele 46 0.571
200
HMM003 Hemimegalencephaly 48 0.571
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