Search results for otx2

129 hits were found for otx2

# Family MCID Name MIFTS Score
1
c MCR252 Microphthalmia, Syndromic 5 34 14.225
2
PTT043 Pituitary Hormone Deficiency, Combined, 6 21 4.493
3
MCR013 Microphthalmia 57 4.461
4
P MDL005 Medulloblastoma 77 3.446
5
P SYN165 Syndromic Microphthalmia 35 3.159
6
CLB026 Colobomatous Microphthalmia 47 3.153
7
AGN012 Agnathia-Otocephaly Complex 53 2.903
8
P CTR002 Cataract 60 2.692
9
FRY006 Fryns Microphthalmia Syndrome 52 2.613
10
P HYP083 Hypopituitarism 53 2.291
12
SPT006 Septooptic Dysplasia 64 2.264
13
ISL003 Isolated Growth Hormone Deficiency 49 2.264
14
PTT001 Pituitary Hypoplasia 34 2.264
15
HMF006 Hemifacial Microsomia 55 2.234
16
P BRN006 Branchiootorenal Syndrome 46 2.234
17
DYS018 Dysostosis 44 2.234
18
PTT063 Pattern Dystrophy 29 2.234
19
P PRK057 Parkinson Disease, Late-Onset 78 2.198
20
P CNR004 Cone-Rod Dystrophy 2 73 2.198
21
c ART144 Arthrogryposis, Distal, Type 1a 61 2.198
22
c ART061 Arthrogryposis, Distal, Type 2a 57 2.198
23
FND002 Fundus Dystrophy 55 2.179
24
CLB010 Coloboma of Macula 52 1.717
25
LBR036 Leber Plus Disease 66 1.667
26
P HLP001 Holoprosencephaly 67 1.637
27
P ANR048 Aniridia 1 63 1.637
28
OPT070 Optic Nerve Hypoplasia, Bilateral 56 1.637
29
DYS038 Dysgnathia Complex 15 1.637
30
P RTN008 Retinitis Pigmentosa 79 1.601
31
PTT046 Pituitary Hormone Deficiency, Combined, 2 64 1.601
32
EYD002 Eye Disease 58 1.601
33
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 37 1.601
34
P NNP021 Nanophthalmos 36 1.601
35
MDL003 Medullomyoblastoma 34 1.601
36
CMP097 Complex Chromosomal Rearrangement 25 1.601
37
BTT011 Butterfly-Shaped Pigment Dystrophy 24 1.601
38
BSL036 Basal Cell Nevus Syndrome 73 1.554
39
CHR103 Charge Syndrome 67 1.554
40
P KLL001 Kallmann Syndrome 61 1.554
41
ENH001 Enhanced S-Cone Syndrome 57 1.554
42
c ART119 Arthrogryposis, Distal, Type 5 55 1.554
43
AMB002 Amblyopia 49 1.554
44
P PRS062 Persistent Hyperplastic Primary Vitreous 44 1.554
45
c MCR137 Microphthalmia, Isolated 2 44 1.554
46
c MCR114 Microphthalmia, Isolated 3 42 1.554
47
VLP002 Valproate Embryopathy 41 1.554
48
VTR005 Vitreous Disease 39 1.554
49
NDL005 Nodular Medulloblastoma 38 1.554
50
INF039 Infratentorial Cancer 38 1.554
52
c ART060 Arthrogryposis, Distal, Type 1b 35 1.554
53
MLN004 Melanotic Medulloblastoma 31 1.554
54
IRS003 Iris Disease 29 1.554
55
INT083 Intraventricular Meningioma 23 1.554
56
P ISL020 Isolated Microphthalmia 22 1.554
57
c SPS229 Spastic Ataxia 8 19 1.554
58
c INH030 Inherited Retinal Disorder 51 0.364
59
GRW007 Growth Hormone Deficiency 46 0.126
60
P RTN024 Retinoblastoma 73 0.112
61
c FML008 Familial Retinoblastoma 53 0.112
62
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.112
63
P RTN018 Retinal Disease 53 0.097
64
P NGH001 Night Blindness 48 0.097
65
c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25 0.097
67
c NRF024 Neurofibromatosis, Type I 77 0.080
68
ANX010 Anxiety 73 0.080
69
P NRB001 Neuroblastoma 72 0.080
70
HYP056 Hypoglycemia 66 0.080
71
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.080
72
P ADN016 Adenocarcinoma 64 0.080
73
c BRN108 Branchiootic Syndrome 1 62 0.080
74
PTT009 Pituitary Gland Disease 54 0.080
75
P RTN016 Retinal Degeneration 53 0.080
76
PTH003 Pathologic Nystagmus 52 0.080
77
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.080
78
OCL052 Ocular Dominance 42 0.080
79
HYP264 Hypertonia 38 0.080
80
ISL011 Isolated Aniridia 31 0.080
81
SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 14 0.080
83
NRL016 Neural Tube Defects 82 0.056
84
P MYP004 Myopathy 70 0.056
85
GRG001 Greig Cephalopolysyndactyly Syndrome 66 0.056
86
P HYD006 Hydrocephalus 66 0.056
87
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.056
88
CLF027 Cleft Palate, Isolated 64 0.056
89
P ECT006 Ectodermal Dysplasia 62 0.056
90
CLT003 Colitis 62 0.056
91
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.056
92
P MCR010 Microcephaly 59 0.056
93
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59 0.056
94
P PLY006 Polydactyly 59 0.056
95
P INF032 Infertility 57 0.056
96
P BPL003 Bipolar Disorder 56 0.056
97
P NRF002 Neurofibromatosis 56 0.056
98
EMB004 Embryonal Carcinoma 56 0.056
99
CLF004 Cleft Lip/palate 54 0.056
100
P INF037 Inflammatory Bowel Disease 54 0.056
101
CLF001 Cleft Lip 53 0.056
102
P ANT088 Anterior Segment Dysgenesis 52 0.056
103
P HYP730 Hypogonadotropic Hypogonadism 52 0.056
104
P PRR016 Pierre Robin Syndrome 52 0.056
105
PTT041 Pituitary Stalk Interruption Syndrome 50 0.056
106
HYP080 Hypogonadism 50 0.056
107
c ANT086 Anterior Segment Dysgenesis 2 48 0.056
108
HLX001 Helix Syndrome 47 0.056
109
c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 47 0.056
110
DWR001 Dwarfism 44 0.056
111
P BRN042 Branchiootic Syndrome 44 0.056
112
c MCR241 Microphthalmia, Syndromic 3 43 0.056
113
P CND005 Cone Dystrophy 43 0.056
114
c MCL066 Macular Dystrophy, Vitelliform, 2 42 0.056
115
c RTN041 Retinitis Pigmentosa 11 42 0.056
116
P CHR342 Chiari Malformation 41 0.056
117
c MJR024 Major Affective Disorder 9 41 0.056
118
c SCH056 Schizophrenia 15 41 0.056
119
c MJR022 Major Affective Disorder 8 38 0.056
120
P SCL047 Sclerocornea 32 0.056
121
c CNG608 Congenital Hypopituitarism 30 0.056
122
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30 0.056
123
ISL075 Isolated Pierre Robin Sequence 29 0.056
124
c BRN128 Branchiootic Syndrome 3 29 0.056
125
c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28 0.056
126
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 26 0.056
127
c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26 0.056
128
P LBR033 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 22 0.056
129
HYP850 Hypoglossia/aglossia 6 0.056
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