Search results for "CHAT"

99 hits were found for 'CHAT'

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