Search results for sox3

97 hits were found for sox3

# Family MCID Name MIFTS Score
1
PNH005 Panhypopituitarism, X-Linked 24 4.338
2
MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22 3.635
3
GRW007 Growth Hormone Deficiency 46 3.575
4
P HYP083 Hypopituitarism 53 3.242
5
NRL016 Neural Tube Defects 82 3.047
6
P HYP024 Hypoparathyroidism 56 2.977
7
c 46X081 46,xx Sex Reversal 34 2.949
8
ISL003 Isolated Growth Hormone Deficiency 49 2.528
9
SPT006 Septooptic Dysplasia 64 2.479
10
P SCL018 Scoliosis 60 2.479
11
P SNS001 Sensorineural Hearing Loss 60 2.451
12
P MCR010 Microcephaly 59 2.451
13
P STR020 Strabismus 55 2.451
14
PTT001 Pituitary Hypoplasia 34 2.451
15
HYP611 Hypoparathyroidism, X-Linked 32 2.451
16
c 46X050 46,xx Sex Reversal 3 17 2.451
17
P HYP077 Hypertrichosis 50 2.419
18
P GND004 Gonadal Dysgenesis 48 2.419
19
P RTT002 Rett Syndrome 80 2.382
20
P HYP086 Hypothyroidism 69 2.382
21
LMB002 Lambert-Eaton Myasthenic Syndrome 53 2.382
22
BRJ001 Borjeson-Forssman-Lehmann Syndrome 49 2.382
23
HYP025 Hyperphosphatemia 48 2.382
24
PTT046 Pituitary Hormone Deficiency, Combined, 2 64 1.831
25
CRY035 Cryptorchidism, Unilateral or Bilateral 58 1.803
26
ISL125 Isolated Growth Hormone Deficiency Type Iii 29 1.803
27
PLM070 Pulmonic Stenosis 57 1.771
28
P 46X052 46,xx Sex Reversal 1 50 1.771
29
PTT041 Pituitary Stalk Interruption Syndrome 50 1.733
30
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 34 1.733
31
NNC019 Non-Acquired Panhypopituitarism 20 1.733
32
P HLP001 Holoprosencephaly 67 1.684
33
P KLL001 Kallmann Syndrome 61 1.684
34
PTT009 Pituitary Gland Disease 54 1.684
35
CHN054 Chondrodysplasia, Blomstrand Type 52 1.684
36
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 38 1.684
37
CMP097 Complex Chromosomal Rearrangement 25 1.684
38
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.145
39
NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 11 0.133
40
P ATS364 Autism 70 0.119
41
c LKM061 Leukemia, Acute Myeloid 84 0.103
42
c PRM196 Premature Ovarian Failure 1 67 0.103
43
EMB004 Embryonal Carcinoma 56 0.103
44
c CNG608 Congenital Hypopituitarism 30 0.103
45
c HMP004 Hemophilia B 68 0.084
46
P KBK002 Kabuki Syndrome 1 67 0.084
47
CLF027 Cleft Palate, Isolated 64 0.084
48
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.084
49
SQM006 Squamous Cell Carcinoma 60 0.084
50
PNC001 Pancytopenia 54 0.084
51
P HMP007 Hemophilia 51 0.084
52
P OVR082 Overgrowth Syndrome 50 0.084
53
PCT003 Pectus Excavatum 49 0.084
54
c RNL122 Renal Hypodysplasia/aplasia 3 44 0.084
55
TNG004 Tongue Disease 42 0.084
57
P HPT023 Hepatocellular Carcinoma 100 0.059
58
P OVR042 Ovarian Cancer 88 0.059
59
P GST053 Gastric Cancer 83 0.059
60
GLB015 Glioblastoma Multiforme 75 0.059
61
END057 Endometrial Cancer 74 0.059
62
P SCH015 Schizophrenia 74 0.059
63
ODN023 Odontochondrodysplasia 68 0.059
64
P LKM002 Leukemia 68 0.059
65
c ATS007 Autism Spectrum Disorder 67 0.059
66
OST159 Osteogenic Sarcoma 66 0.059
67
P HYD006 Hydrocephalus 66 0.059
68
DGR001 Digeorge Syndrome 64 0.059
69
P GLM045 Glioma 63 0.059
70
PTR032 Peters-Plus Syndrome 63 0.059
71
P MYL006 Myeloid Leukemia 60 0.059
72
P INF032 Infertility 57 0.059
73
MCR013 Microphthalmia 57 0.059
74
P MLN007 Male Infertility 55 0.059
75
FRY006 Fryns Microphthalmia Syndrome 52 0.059
76
STT041 Stuttering 52 0.059
77
CLB010 Coloboma of Macula 52 0.059
78
APR001 Apraxia 52 0.059
79
LBS001 Lubs X-Linked Mental Retardation Syndrome 51 0.059
80
MYL020 Myelomeningocele 51 0.059
81
P HYP040 Hypospadias 51 0.059
82
AZS001 Azoospermia 50 0.059
83
SLT005 Solitary Median Maxillary Central Incisor 49 0.059
84
SXL003 Sexual Disorder 47 0.059
85
HLX001 Helix Syndrome 47 0.059
86
c CNG216 Congenital Hydrocephalus 47 0.059
87
GLL048 Glial Tumor 45 0.059
88
c 46X051 46,xy Sex Reversal 1 44 0.059
89
SPC005 Speech Disorder 43 0.059
90
LRW001 Leri-Weill Dyschondrosteosis 43 0.059
91
SKL017 Skeletal Dysplasias 40 0.059
92
OVR094 Ovarian Epithelial Cancer 38 0.059
93
HRM002 Hermaphroditism 36 0.059
94
LNG040 Langer Mesomelic Dysplasia 36 0.059
95
P SCL047 Sclerocornea 32 0.059
96
c 46X059 46,xx Sex Reversal 4 22 0.059
97
XLN215 X-Linked Congenital Generalized Hypertrichosis 17 0.059
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