Search results for ofd1

95 hits were found for ofd1

# Family MCID Name MIFTS Score
1
c ORF037 Orofaciodigital Syndrome I 60 21.810
2
c RTN052 Retinitis Pigmentosa 23 36 4.561
3
c JBR016 Joubert Syndrome 10 41 4.513
4
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40 4.102
5
P JBR020 Joubert Syndrome 1 72 4.028
6
P RTN008 Retinitis Pigmentosa 79 3.881
7
P PRM011 Primary Ciliary Dyskinesia 69 3.664
8
P ORF001 Orofaciodigital Syndrome 48 3.557
9
P SMP003 Simpson-Golabi-Behmel Syndrome 50 3.225
10
P LSS002 Lissencephaly 51 2.668
11
P PLY014 Polycystic Kidney Disease 62 2.354
12
c ORF034 Orofaciodigital Syndrome Vi 55 2.281
13
P BRC006 Brachydactyly 53 2.251
14
P MCK013 Meckel Syndrome, Type 1 65 2.179
15
CLF027 Cleft Palate, Isolated 64 2.179
16
FND002 Fundus Dystrophy 55 1.694
17
c ORF038 Orofaciodigital Syndrome Iii 33 1.665
18
P BRD002 Bardet-Biedl Syndrome 66 1.631
19
LBR036 Leber Plus Disease 66 1.592
20
CHR619 Chromosome 2q35 Duplication Syndrome 62 1.592
21
P CYS039 Cystic Kidney Disease 54 1.592
22
CLB010 Coloboma of Macula 52 1.592
23
P PRN026 Porencephaly 48 1.592
24
c ORF035 Orofaciodigital Syndrome Iv 47 1.592
25
c BRD016 Bardet-Biedl Syndrome 4 46 1.592
26
CLB003 Coloboma of Optic Nerve 42 1.592
27
ACR008 Acrocallosal Syndrome 69 1.541
28
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 64 1.541
29
ELL001 Ellis-Van Creveld Syndrome 62 1.541
30
P CRN108 Cranioectodermal Dysplasia 1 62 1.541
31
TTH002 Tooth Agenesis 60 1.541
32
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 1.541
33
P NPH005 Nephronophthisis 59 1.541
34
PLY023 Polycystic Liver Disease 57 1.541
35
P SNR003 Senior-Loken Syndrome 1 56 1.541
36
c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55 1.541
37
CCH002 Coach Syndrome 55 1.541
38
c JBR041 Joubert Syndrome 3 53 1.541
39
P VSC013 Visceral Heterotaxy 52 1.541
40
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51 1.541
41
c JBR018 Joubert Syndrome 4 51 1.541
42
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 1.541
43
c NPH030 Nephronophthisis 2 50 1.541
44
KRT010 Kartagener Syndrome 50 1.541
45
c MCK032 Meckel Syndrome, Type 3 50 1.541
46
c JBR004 Joubert Syndrome 2 48 1.541
47
c JBR012 Joubert Syndrome 5 47 1.541
48
c JBR011 Joubert Syndrome 7 46 1.541
49
c ORF033 Orofaciodigital Syndrome V 44 1.541
50
P ORF002 Orofacial Cleft 44 1.541
51
c JBR014 Joubert Syndrome 9 43 1.541
52
PHY002 Physical Disorder 42 1.541
53
c JBR013 Joubert Syndrome 8 42 1.541
54
c JBR028 Joubert Syndrome 13 42 1.541
55
c RTN056 Retinitis Pigmentosa 28 39 1.541
56
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35 1.541
57
c CLR069 Ciliary Dyskinesia, Primary, 8 29 1.541
58
c CLR067 Ciliary Dyskinesia, Primary, 4 29 1.541
59
c ORF041 Orofaciodigital Syndrome X 26 1.541
60
c RTN063 Retinitis Pigmentosa 34 25 1.541
61
CRB053 Cerebellar Agenesis 16 1.541
62
CLP005 Ciliopathy 43 0.232
63
P PLY006 Polydactyly 59 0.139
64
c INH030 Inherited Retinal Disorder 51 0.124
65
RTN023 Retinitis 46 0.124
66
NRR001 Neuroretinitis 42 0.124
67
P KDN018 Kidney Disease 72 0.088
68
P ATS364 Autism 70 0.088
69
P HYD006 Hydrocephalus 66 0.088
70
P NLD001 Nail Disease 54 0.088
71
P PLY147 Polydactyly, Postaxial, Type A1 53 0.088
72
P RTN016 Retinal Degeneration 53 0.088
73
END086 End Stage Renal Disease 51 0.088
74
c NRF023 Neurofibromatosis, Type Ii 80 0.062
75
P SCH015 Schizophrenia 74 0.062
76
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.062
77
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 0.062
78
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.062
79
PLL001 Pallister-Hall Syndrome 64 0.062
80
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.062
81
P SNS001 Sensorineural Hearing Loss 60 0.062
82
P OPT009 Optic Neuritis 57 0.062
83
P MLN007 Male Infertility 55 0.062
84
NRT004 Neuritis 52 0.062
85
PLY024 Polymicrogyria 49 0.062
86
TRT020 Tritanopia 49 0.062
87
BKR002 Baker-Gordon Syndrome 49 0.062
88
P NGH001 Night Blindness 48 0.062
89
c HYD064 Hydrocephalus, Congenital, 1 48 0.062
90
STS002 Situs Inversus 45 0.062
91
c LBR015 Leber Congenital Amaurosis 5 42 0.062
92
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.062
93
RHY001 Rhyns Syndrome 38 0.062
94
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 0.062
95
c ORF045 Orofaciodigital Syndrome Xv 21 0.062
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