Search results for sall1

79 hits were found for sall1

# Family MCID Name MIFTS Score
1
P TWN003 Townes-Brocks Syndrome 55 5.865
2
c TWN011 Townes-Brocks Syndrome 1 35 5.411
3
P HRT032 Heart Disease 75 3.525
4
MCR013 Microphthalmia 60 3.094
5
DNR002 Duane-Radial Ray Syndrome 55 3.067
6
HMF006 Hemifacial Microsomia 57 2.608
7
P RNL100 Renal Hypodysplasia/aplasia 1 63 2.583
8
RNL078 Renal Dysplasia 49 2.526
9
P NNN008 Noonan Syndrome 1 76 2.452
10
GST092 Gastroesophageal Reflux 65 2.452
11
ANS023 Anus, Imperforate 55 1.966
12
CLB010 Coloboma of Macula 53 1.786
13
BRN003 Branchiooculofacial Syndrome 52 1.786
14
P BRN006 Branchiootorenal Syndrome 45 1.786
15
VCT001 Vacterl Association 44 1.786
16
RNL025 Renal Hypoplasia 43 1.786
17
MSC020 Mosaic Trisomy 8 33 1.786
18
PLL001 Pallister-Hall Syndrome 64 1.734
19
CHR619 Chromosome 2q35 Duplication Syndrome 60 1.734
20
c VSC019 Vesicoureteral Reflux 1 59 1.734
21
c FRS014 Fraser Syndrome 1 58 1.734
22
PPL048 Papillorenal Syndrome 55 1.734
23
PRN038 Prune Belly Syndrome 55 1.734
24
P OTS001 Otosclerosis 50 1.734
25
CKT002 Cakut 49 1.734
26
RCT017 Rectal Disease 48 1.734
27
ANS012 Anus Disease 43 1.734
28
c SPH013 Spherocytosis, Type 1 43 1.734
29
P BRN042 Branchiootic Syndrome 41 1.734
30
SPN221 Spina Bifida Occulta 38 1.734
31
TLC001 Telecanthus 34 1.734
32
INV005 Inverted Follicular Keratosis 32 1.734
33
TBR009 Tuberculous Empyema 24 1.734
34
MXD019 Mixed Malaria 22 1.734
35
P SNS001 Sensorineural Hearing Loss 61 0.156
36
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.142
37
P PLY006 Polydactyly 58 0.127
38
CRN051 Craniofacial Microsomia 29 0.127
39
P CTR002 Cataract 60 0.110
40
P HYP086 Hypothyroidism 68 0.090
41
BRS099 Breast Ductal Carcinoma 62 0.090
42
END030 End Stage Renal Failure 58 0.090
43
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.090
44
EXN003 Exencephaly 31 0.090
46
P PRS040 Prostate Cancer 97 0.063
47
c LKM061 Leukemia, Acute Myeloid 83 0.063
48
NRL016 Neural Tube Defects 82 0.063
49
GLB015 Glioblastoma Multiforme 75 0.063
50
P KDN018 Kidney Disease 70 0.063
51
GRG001 Greig Cephalopolysyndactyly Syndrome 67 0.063
52
P LKM002 Leukemia 66 0.063
53
c CNG006 Congenital Hypothyroidism 65 0.063
54
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.063
55
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 0.063
56
P GLM045 Glioma 63 0.063
57
PND002 Pendred Syndrome 60 0.063
58
P MYL006 Myeloid Leukemia 60 0.063
59
ORL011 Oral Cancer 60 0.063
60
CRY035 Cryptorchidism, Unilateral or Bilateral 59 0.063
61
P PLY014 Polycystic Kidney Disease 59 0.063
62
BLL001 Baller-Gerold Syndrome 59 0.063
63
P FCL005 Focal Segmental Glomerulosclerosis 58 0.063
64
OBS525 Obsolete: Squamous Cell Carcinoma of Head and Neck 57 0.063
65
P PLY147 Polydactyly, Postaxial, Type A1 56 0.063
66
P RTN016 Retinal Degeneration 53 0.063
67
P HYP040 Hypospadias 51 0.063
68
UMB002 Umbilical Hernia 47 0.063
69
GLL048 Glial Tumor 45 0.063
70
CTY001 Cat Eye Syndrome 44 0.063
71
c PST041 Posterior Urethral Valves 41 0.063
72
c DNR003 Duane Retraction Syndrome 1 41 0.063
73
c ADM005 Adams-Oliver Syndrome 1 39 0.063
74
CRT012 Cortical Blindness 39 0.063
75
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.063
76
CHR178 Chromosomal Triplication 35 0.063
77
HRS011 Horseshoe Kidney 34 0.063
78
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21 0.063
79
RNL106 Renal Dysplasia, Unilateral 8 0.063
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