Search results for "CHAT"

99 hits were found for 'CHAT'

# Family MCID Name MIFTS Score
1
CRD002 Cri-Du-Chat Syndrome 57 10.211
2
c CHT004 Chat-Related Congenital Myasthenic Syndrome 7 9.390
3
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 58 5.312
4
P ALZ001 Alzheimer's Disease 100 4.402
5
P RTT002 Rett Syndrome 83 4.285
6
OLV001 Olivopontocerebellar Atrophy 80 4.285
7
MLT021 Multiple System Atrophy 71 4.285
8
P HNT001 Huntington's Disease 87 3.030
9
P SDD001 Sudden Infant Death Syndrome 71 3.030
10
LWY001 Lewy Body Dementia 63 3.030
11
HDN002 Head Injury 49 3.030
12
TND006 Tendinosis 43 3.030
13
AMN003 Amnestic Disorder 43 3.030
14
RBF001 Riboflavin Deficiency 41 3.030
15
P CNG001 Congenital Myasthenic Syndrome 53 0.131
16
P HYP163 Hyperlipidemia Type 3 28 0.102
17
P CNG401 Congenital Heart Disease 69 0.083
18
P HYD006 Hydrocephalus 68 0.083
19
P LRY019 Laryngitis 65 0.083
20
LRN003 Learning Disability 63 0.083
21
ARC007 Arachnoid Cysts 62 0.083
22
BRN022 Bronchiectasis 62 0.083
23
EDW001 Edwards Syndrome 61 0.083
24
JCB001 Jacobsen Syndrome 60 0.083
25
P PRM011 Primary Ciliary Dyskinesia 59 0.083
26
P ATS007 Autism Spectrum Disorder 59 0.083
27
P CRV039 Cervicitis 58 0.083
28
c CTR002 Cataract 57 0.083
29
c PSD015 Pseudohypoparathyroidism 55 0.083
30
CHR008 Choroiditis 54 0.083
31
P VNT002 Ventricular Septal Defect 54 0.083
32
P ENC008 Encephalocele 54 0.083
33
MNT147 Mental Retardation 52 0.083
34
APR001 Apraxia 46 0.083
35
ARC002 Arachnoiditis 44 0.083
36
CHL109 Childhood Apraxia of Speech 31 0.083
37
c MNS014 Monosomy 22 24 0.083
38
c RNG021 Ring Chromosome 5 17 0.083
39
CHR170 Choroid Plexus Cyst 16 0.083
40
P HYP075 Hypertension 87 0.059
41
MRF001 Marfan Syndrome 85 0.059
42
AND002 Androgen Insensitivity Syndrome 80 0.059
43
ANK002 Ankylosing Spondylitis 77 0.059
44
GLN003 Glanzmann's Thrombasthenia 74 0.059
45
WST001 West Syndrome 71 0.059
46
ATS001 Autistic Disorder 71 0.059
47
GLL008 Gilles De La Tourette Syndrome 71 0.059
48
P ANG001 Angelman Syndrome 70 0.059
49
P SHR002 Short Stature 68 0.059
50
c AXN002 Axenfeld-Rieger Syndrome 67 0.059
51
c AMY001 Amyotrophic Lateral Sclerosis 67 0.059
52
P DGR001 Digeorge Syndrome 67 0.059
53
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 67 0.059
54
P TRN020 Turner Syndrome 67 0.059
55
P PRT013 Portal Hypertension 66 0.059
56
c THY032 Thyroiditis 66 0.059
57
ULC004 Ulcerative Colitis 65 0.059
58
ART019 Aortic Valve Stenosis 64 0.059
59
CLT003 Colitis 64 0.059
60
ACN002 Acanthosis Nigricans 63 0.059
61
DSS009 Disseminated Intravascular Coagulation 62 0.059
62
GLD001 Goldenhar Syndrome 62 0.059
63
NRP001 Neuropathy 62 0.059
64
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.059
65
EYD002 Eye Disease 59 0.059
66
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.059
67
P SPR013 Spiradenoma 56 0.059
68
P HYP040 Hypospadias 55 0.059
69
P DWR001 Dwarfism 55 0.059
70
ASP001 Asperger Syndrome 55 0.059
71
PLM031 Poliomyelitis 54 0.059
72
MCR010 Microcephaly 53 0.059
73
c INF016 Infantile Epileptic Encephalopathy 53 0.059
74
THR013 Thoracic Outlet Syndrome 52 0.059
75
MNN014 Mononeuritis 51 0.059
76
CRH005 Crohn's Colitis 51 0.059
77
c SYN001 Syndactyly 51 0.059
78
P GLY010 Glycine Encephalopathy 44 0.059
79
NRN002 Neuronitis 44 0.059
80
P ATX010 Ataxia Neuropathy Spectrum 43 0.059
81
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.059
82
HYP265 Hypotonia 41 0.059
83
c CLR053 Ciliary Dyskinesia, Primary, 11 41 0.059
84
SCT002 Scotoma 40 0.059
85
CRB045 Cerebellar Hypoplasia 40 0.059
86
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 38 0.059
87
ADT004 Auditory Neuropathy 38 0.059
88
EMN001 Emanuel Syndrome 37 0.059
89
SYN053 Syndromic Diarrhea 34 0.059
90
CRN051 Craniofacial Microsomia 29 0.059
91
HRT011 Heart Septal Defect 28 0.059
92
VRT007 Vertical Talus, Congenital 26 0.059
93
c RNG009 Ring Chromosome 14 21 0.059
94
PRM041 Primary Cortisol Resistance 21 0.059
95
c CHR211 Chromosome 18p Deletion Syndrome 21 0.059
96
c CHR270 Chromosome 9p Duplication 19 0.059
97
c CHR252 Chromosome 5p Duplication 18 0.059
98
P INT105 Intellectual Disability Multi-Gene Panels 16 0.059
99
c CHR210 Chromosome 17q Duplication 13 0.059