Search results for "CHAT"

109 hits were found for 'CHAT'

# Family MCID Name MIFTS Score
1
CRD002 Cri-Du-Chat Syndrome 57 10.152
2
c CHT004 Chat-Related Congenital Myasthenic Syndrome 7 9.266
3
P CNG001 Congenital Myasthenic Syndrome 62 6.540
4
MYS024 Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 16 4.957
5
P RTT002 Rett Syndrome 84 4.134
6
MLT021 Multiple System Atrophy 80 4.134
7
OLV001 Olivopontocerebellar Atrophy 67 4.134
8
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 25 3.950
9
P SDD001 Sudden Infant Death Syndrome 71 2.923
10
P SPR098 Supranuclear Palsy, Progressive 54 2.923
11
HDN002 Head Injury 48 2.923
12
TND006 Tendinosis 43 2.923
13
RBF001 Riboflavin Deficiency 42 2.923
14
AMN003 Amnestic Disorder 38 2.923
15
P ALZ034 Alzheimer Disease 99 2.067
16
PRS124 Presynaptic Congenital Myasthenic Syndromes 18 2.067
17
c HYP163 Hyperlipidemia Type 3 28 0.098
18
P CNG401 Congenital Heart Disease 70 0.080
19
P HYD006 Hydrocephalus 65 0.080
20
P LRY019 Laryngitis 63 0.080
21
P HYP040 Hypospadias 62 0.080
22
JCB001 Jacobsen Syndrome 61 0.080
23
LRN003 Learning Disability 61 0.080
24
BRN022 Bronchiectasis 61 0.080
25
EDW001 Edwards Syndrome 60 0.080
26
P ATS007 Autism Spectrum Disorder 59 0.080
27
P PRM011 Primary Ciliary Dyskinesia 59 0.080
28
P CTR002 Cataract 58 0.080
29
HMF006 Hemifacial Microsomia 57 0.080
30
ARC007 Arachnoid Cysts 57 0.080
31
P BRC006 Brachydactyly 57 0.080
32
P CRV039 Cervicitis 56 0.080
33
P ENC008 Encephalocele 56 0.080
34
P MNT147 Mental Retardation 56 0.080
35
P VNT002 Ventricular Septal Defect 55 0.080
36
P PSD015 Pseudohypoparathyroidism 54 0.080
37
CHR008 Choroiditis 52 0.080
38
P SCL018 Scoliosis 51 0.080
39
APR001 Apraxia 44 0.080
40
ARC002 Arachnoiditis 43 0.080
41
c MNS014 Monosomy 22 24 0.080
42
c RNG021 Ring Chromosome 5 17 0.080
43
CHR170 Choroid Plexus Cyst 16 0.080
44
MRF001 Marfan Syndrome 86 0.057
45
AND015 Androgen Insensitivity 78 0.057
46
P ANG001 Angelman Syndrome 76 0.057
47
GLL008 Gilles De La Tourette Syndrome 72 0.057
48
GLN010 Glanzmann Thrombasthenia 71 0.057
49
ATS001 Autistic Disorder 69 0.057
50
P TRN020 Turner Syndrome 67 0.057
51
P PRT013 Portal Hypertension 66 0.057
52
CRY002 Cryptorchidism 65 0.057
53
P THY032 Thyroiditis 65 0.057
54
ACN002 Acanthosis Nigricans 63 0.057
55
ULC004 Ulcerative Colitis 63 0.057
56
CLT003 Colitis 62 0.057
57
P ACR001 Aicardi-Goutieres Syndrome 62 0.057
58
WST001 West Syndrome 61 0.057
59
EYD002 Eye Disease 61 0.057
60
P NRP001 Neuropathy 60 0.057
61
DSS009 Disseminated Intravascular Coagulation 60 0.057
62
GST092 Gastroesophageal Reflux 60 0.057
63
c PST005 Posterior Uveitis 57 0.057
64
P DGR001 Digeorge Syndrome 57 0.057
65
P AXN010 Axenfeld-Rieger Syndrome, Type 3 57 0.057
66
P MCR010 Microcephaly 56 0.057
67
P SPR013 Spiradenoma 54 0.057
68
DWR001 Dwarfism 54 0.057
69
P GLY010 Glycine Encephalopathy 54 0.057
70
PLM031 Poliomyelitis 52 0.057
71
ASP001 Asperger Syndrome 52 0.057
72
c SPN225 Spondyloarthropathy 1 52 0.057
73
THR013 Thoracic Outlet Syndrome 52 0.057
74
CRB045 Cerebellar Hypoplasia 51 0.057
75
P STR020 Strabismus 51 0.057
76
CRH005 Crohn's Colitis 50 0.057
77
P SYN001 Syndactyly 50 0.057
78
P INF016 Infantile Epileptic Encephalopathy 48 0.057
79
SKN023 Skin Tag 47 0.057
80
P MYP006 Myopia 47 0.057
81
P TRC086 Trichohepatoenteric Syndrome 1 45 0.057
82
MYS038 Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 44 0.057
83
c OPT055 Optic Atrophy Plus Syndrome 44 0.057
84
OPP004 Oppositional Defiant Disorder 43 0.057
85
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 42 0.057
86
CHR322 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 42 0.057
87
CLR096 Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 42 0.057
88
NRN002 Neuronitis 42 0.057
89
EMN001 Emanuel Syndrome 41 0.057
90
P HYP265 Hypotonia 41 0.057
91
SCT002 Scotoma 39 0.057
92
P ADT004 Auditory Neuropathy 38 0.057
93
c ART101 Aortic Valve Disease 2 37 0.057
94
HYP264 Hypertonia 35 0.057
95
CHR211 Chromosome 18p Deletion Syndrome 31 0.057
96
UND005 Undifferentiated Pleomorphic Sarcoma 30 0.057
97
P ATX010 Ataxia Neuropathy Spectrum 29 0.057
98
VRT007 Vertical Talus, Congenital 29 0.057
99
CRN051 Craniofacial Microsomia 28 0.057
100
HRT011 Heart Septal Defect 27 0.057
101
ECH002 Echolalia 24 0.057
102
BFD003 Bifid Uvula 22 0.057
103
HYP144 Hyperacusis 22 0.057
104
c RNG009 Ring Chromosome 14 21 0.057
105
CHR252 Chromosome 5p Duplication 21 0.057
106
CHR270 Chromosome 9p Duplication 21 0.057
107
P INT105 Intellectual Disability Multi-Gene Panels 17 0.057
108
MTT004 Metatarsus Adductus 15 0.057
109
CHR210 Chromosome 17q Duplication 8 0.057