Search results for ahi1

110 hits were found for ahi1

# Family MCID Name MIFTS Score
1
c JBR041 Joubert Syndrome 3 53 6.211
2
P JBR020 Joubert Syndrome 1 72 5.188
3
c INH030 Inherited Retinal Disorder 51 4.022
4
P RTN008 Retinitis Pigmentosa 79 3.776
5
FND002 Fundus Dystrophy 55 2.788
6
P KDN018 Kidney Disease 72 2.761
7
APR001 Apraxia 52 2.761
8
P NPH005 Nephronophthisis 59 2.388
9
c NPH019 Nephronophthisis 1 50 2.388
10
LBR036 Leber Plus Disease 66 2.369
11
OCL015 Oculomotor Apraxia 37 2.306
12
P SCH015 Schizophrenia 74 2.254
13
P ATS364 Autism 70 2.224
14
P MCK013 Meckel Syndrome, Type 1 65 2.224
15
P STR020 Strabismus 55 2.187
16
P PTS002 Ptosis 53 2.187
17
P CYS039 Cystic Kidney Disease 54 1.662
18
P SNR003 Senior-Loken Syndrome 1 56 1.631
19
c CNG513 Congenital Ptosis 42 1.631
20
P BRD002 Bardet-Biedl Syndrome 66 1.594
21
CLB010 Coloboma of Macula 52 1.594
22
c JBR018 Joubert Syndrome 4 51 1.594
23
c MCK032 Meckel Syndrome, Type 3 50 1.594
24
c JBR012 Joubert Syndrome 5 47 1.594
25
ACR008 Acrocallosal Syndrome 69 1.546
26
P PRM011 Primary Ciliary Dyskinesia 69 1.546
27
c FML346 Familial Adenomatous Polyposis 1 66 1.546
28
APN008 Apnea, Obstructive Sleep 64 1.546
29
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 64 1.546
30
P CRN108 Cranioectodermal Dysplasia 1 62 1.546
31
BLD131 Bladder Urothelial Carcinoma 62 1.546
32
c PRX045 Peroxisome Biogenesis Disorder 1b 61 1.546
33
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 1.546
34
CCH002 Coach Syndrome 55 1.546
35
c ORF034 Orofaciodigital Syndrome Vi 55 1.546
36
P VSC013 Visceral Heterotaxy 52 1.546
37
PTH003 Pathologic Nystagmus 52 1.546
38
c NPH030 Nephronophthisis 2 50 1.546
39
KRT010 Kartagener Syndrome 50 1.546
40
CGN006 Cogan Syndrome 48 1.546
41
c JBR004 Joubert Syndrome 2 48 1.546
42
c JBR011 Joubert Syndrome 7 46 1.546
43
c JBR035 Joubert Syndrome 24 46 1.546
44
c JBR015 Joubert Syndrome 6 45 1.546
45
c NPH035 Nephronophthisis 9 44 1.546
46
c JBR014 Joubert Syndrome 9 43 1.546
47
c JBR013 Joubert Syndrome 8 42 1.546
48
c JBR028 Joubert Syndrome 13 42 1.546
49
c JBR016 Joubert Syndrome 10 41 1.546
50
ADN067 Adenoid Hypertrophy 39 1.546
51
c NPH077 Nephronophthisis 19 38 1.546
52
P CNG048 Congenital Hepatic Fibrosis 38 1.546
53
MXD044 Mixed Sleep Apnea 23 1.546
54
CLP005 Ciliopathy 43 0.199
55
P HYP265 Hypotonia 43 0.163
56
ATS010 Autosomal Recessive Disease 48 0.141
57
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.129
58
P RTN016 Retinal Degeneration 53 0.115
59
P ALZ034 Alzheimer Disease 88 0.081
60
P PLY006 Polydactyly 59 0.081
61
EYD002 Eye Disease 58 0.081
62
P RTN018 Retinal Disease 53 0.081
63
OCL069 Ocular Motor Apraxia 51 0.081
64
PLY024 Polymicrogyria 49 0.081
65
P ENC008 Encephalocele 47 0.081
66
RTN023 Retinitis 46 0.081
67
NRR001 Neuroretinitis 42 0.081
68
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.081
69
P CRB045 Cerebellar Hypoplasia 41 0.081
70
P NRB001 Neuroblastoma 72 0.058
71
c LKM063 Leukemia, Chronic Myeloid 72 0.058
72
PSY004 Psychotic Disorder 67 0.058
73
c ATS007 Autism Spectrum Disorder 67 0.058
74
MYC006 Mycosis Fungoides 66 0.058
75
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66 0.058
76
P HYD006 Hydrocephalus 66 0.058
77
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.058
78
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 65 0.058
79
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 0.058
80
P PLY014 Polycystic Kidney Disease 62 0.058
81
c BRN108 Branchiootic Syndrome 1 62 0.058
82
P MYL006 Myeloid Leukemia 60 0.058
83
SZR001 Sezary's Disease 60 0.058
84
P SCL018 Scoliosis 60 0.058
85
c ORF037 Orofaciodigital Syndrome I 60 0.058
86
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.058
87
P BPL003 Bipolar Disorder 56 0.058
88
ABL002 Ablepharon-Macrostomia Syndrome 53 0.058
89
P MRR011 Mirror Movements 1 51 0.058
90
RNL078 Renal Dysplasia 50 0.058
91
P CTN015 Cutaneous T Cell Lymphoma 49 0.058
92
c CNG216 Congenital Hydrocephalus 47 0.058
93
c KNB006 Knobloch Syndrome 1 46 0.058
94
ARM010 Arima Syndrome 46 0.058
95
IMM003 Immunoglobulin Alpha Deficiency 45 0.058
96
STS002 Situs Inversus 45 0.058
97
CRB027 Cerebellar Disease 44 0.058
98
IMM154 Immunoglobulin a Deficiency 1 42 0.058
99
ATX019 Ataxia with Vitamin E Deficiency 42 0.058
100
c MJR024 Major Affective Disorder 9 41 0.058
101
CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39 0.058
102
DXT002 Dextrocardia with Situs Inversus 39 0.058
103
c JVN041 Juvenile Nephronophthisis 39 0.058
104
RHY001 Rhyns Syndrome 38 0.058
105
c MJR022 Major Affective Disorder 8 38 0.058
106
PDT025 Pediatric Multiple Sclerosis 36 0.058
107
ALK023 Al Kaissi Syndrome 30 0.058
108
PLY110 Polymicrogyria, Bilateral Temporooccipital 25 0.058
109
SYN149 Syndromic Rod-Cone Dystrophy 22 0.058
110
MLF009 Malformation of the Cerebellar Vermis 5 0.058
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