Search results for "CHAT"

93 hits were found for 'CHAT'

# Family MCID Name MIFTS Score
1
CRD002 Cri-Du-Chat Syndrome 56 10.211
2
c CHT004 Chat-Related Congenital Myasthenic Syndrome 7 9.356
3
P ALZ001 Alzheimer's Disease 97 4.345
4
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 38 4.303
5
P RTT002 Rett Syndrome 82 4.226
6
OLV001 Olivopontocerebellar Atrophy 79 4.226
7
MLT021 Multiple System Atrophy 70 4.226
8
P AMY001 Amyotrophic Lateral Sclerosis 98 3.026
9
P HNT001 Huntington's Disease 85 2.988
10
LWY001 Lewy Body Dementia 61 2.988
11
HDN002 Head Injury 48 2.988
12
TND006 Tendinosis 42 2.988
13
RBF001 Riboflavin Deficiency 42 2.988
14
AMN003 Amnestic Disorder 41 2.988
15
MYS036 Myasthenic Syndrome, Congenital, with Pre- and Postsynaptic Defects 37 2.113
16
P CNG001 Congenital Myasthenic Syndrome 50 0.134
17
P HYP163 Hyperlipidemia Type 3 27 0.104
18
P HYD006 Hydrocephalus 68 0.085
19
P LRY019 Laryngitis 65 0.085
20
LRN003 Learning Disability 62 0.085
21
ARC007 Arachnoid Cysts 61 0.085
22
BRN022 Bronchiectasis 61 0.085
23
JCB001 Jacobsen Syndrome 59 0.085
24
P ATS007 Autism Spectrum Disorder 59 0.085
25
P CNG401 Congenital Heart Disease 58 0.085
26
P CRV039 Cervicitis 57 0.085
27
c CTR002 Cataract 57 0.085
28
CHR008 Choroiditis 55 0.085
29
c VNT002 Ventricular Septal Defect 54 0.085
30
c PSD015 Pseudohypoparathyroidism 54 0.085
31
P ENC008 Encephalocele 52 0.085
32
MNT147 Mental Retardation 51 0.085
33
ARC002 Arachnoiditis 45 0.085
34
APR001 Apraxia 44 0.085
35
ENC017 Encephaloceles 42 0.085
36
CHL109 Childhood Apraxia of Speech 31 0.085
37
c MNS014 Monosomy 22 23 0.085
38
c RNG021 Ring Chromosome 5 16 0.085
39
CHR170 Choroid Plexus Cyst 16 0.085
40
P HYP075 Hypertension 85 0.060
41
MRF001 Marfan Syndrome 83 0.060
42
AND002 Androgen Insensitivity Syndrome 80 0.060
43
ANK002 Ankylosing Spondylitis 74 0.060
44
GLN003 Glanzmann's Thrombasthenia 73 0.060
45
ATS001 Autistic Disorder 71 0.060
46
P ANG001 Angelman Syndrome 70 0.060
47
GLL008 Gilles De La Tourette Syndrome 70 0.060
48
ACN002 Acanthosis Nigricans 69 0.060
49
P DGR001 Digeorge Syndrome 67 0.060
50
c AXN002 Axenfeld-Rieger Syndrome 66 0.060
51
P PRT013 Portal Hypertension 66 0.060
52
c THY032 Thyroiditis 66 0.060
53
P TRN020 Turner Syndrome 66 0.060
54
P SHR002 Short Stature 64 0.060
55
ART019 Aortic Valve Stenosis 64 0.060
56
ULC004 Ulcerative Colitis 63 0.060
57
DSS009 Disseminated Intravascular Coagulation 62 0.060
58
WST001 West Syndrome 62 0.060
59
GLD001 Goldenhar Syndrome 61 0.060
60
NRP001 Neuropathy 61 0.060
61
EYD002 Eye Disease 60 0.060
62
EDW001 Edwards Syndrome 59 0.060
63
P HYP040 Hypospadias 55 0.060
64
P DWR001 Dwarfism 55 0.060
65
MCR010 Microcephaly 54 0.060
66
ASP001 Asperger Syndrome 53 0.060
67
PLM031 Poliomyelitis 53 0.060
68
c INF016 Infantile Epileptic Encephalopathy 52 0.060
69
THR013 Thoracic Outlet Syndrome 52 0.060
70
MNN014 Mononeuritis 51 0.060
71
c SYN001 Syndactyly 50 0.060
72
P INT063 Intellectual Disability 50 0.060
73
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 47 0.060
74
P GLY010 Glycine Encephalopathy 43 0.060
75
NRN002 Neuronitis 43 0.060
76
P ATX010 Ataxia Neuropathy Spectrum 41 0.060
77
HYP265 Hypotonia 41 0.060
78
SCT002 Scotoma 40 0.060
79
CRB045 Cerebellar Hypoplasia 39 0.060
80
ADT004 Auditory Neuropathy 37 0.060
81
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 36 0.060
82
EMN001 Emanuel Syndrome 36 0.060
83
SYN053 Syndromic Diarrhea 32 0.060
84
P VNT028 Ventricular Septal Defect 1 29 0.060
85
HRT011 Heart Septal Defect 28 0.060
86
CRN051 Craniofacial Microsomia 27 0.060
87
VRT007 Vertical Talus, Congenital 26 0.060
88
c PRM041 Primary Cortisol Resistance 21 0.060
89
c CHR211 Chromosome 18p Deletion Syndrome 21 0.060
90
c RNG009 Ring Chromosome 14 20 0.060
91
c CHR270 Chromosome 9p Duplication 19 0.060
92
c CHR252 Chromosome 5p Duplication 18 0.060
93
c CHR210 Chromosome 17q Duplication 13 0.060