Search results for "CHAT"

108 hits were found for 'CHAT'

# Family MCID Name MIFTS Score
1
CRD002 Cri-Du-Chat Syndrome 50 10.161
2
c CHT004 Chat-Related Congenital Myasthenic Syndrome 5 9.312
3
P CNG001 Congenital Myasthenic Syndrome 53 6.542
4
MYS024 Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 14 4.958
5
P RTT002 Rett Syndrome 73 4.134
6
MLT021 Multiple System Atrophy 70 4.134
7
OLV001 Olivopontocerebellar Atrophy 58 4.134
8
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 21 3.951
9
P SDD001 Sudden Infant Death Syndrome 62 2.923
10
P SPR098 Supranuclear Palsy, Progressive 48 2.923
11
HDN002 Head Injury 41 2.923
12
RBF001 Riboflavin Deficiency 37 2.923
13
TND006 Tendinosis 37 2.923
14
AMN003 Amnestic Disorder 33 2.923
15
P ALZ034 Alzheimer Disease 100 2.067
16
PRS124 Presynaptic Congenital Myasthenic Syndromes 16 2.067
17
c HYP163 Hyperlipidemia Type 3 23 0.098
18
P CNG401 Congenital Heart Disease 62 0.080
19
P HYD006 Hydrocephalus 56 0.080
20
P LRY019 Laryngitis 56 0.080
21
P HYP040 Hypospadias 54 0.080
22
BRN022 Bronchiectasis 54 0.080
23
JCB001 Jacobsen Syndrome 53 0.080
24
LRN003 Learning Disability 53 0.080
25
EDW001 Edwards Syndrome 52 0.080
26
P ATS007 Autism Spectrum Disorder 56 0.080
27
P PRM011 Primary Ciliary Dyskinesia 51 0.080
28
P CTR002 Cataract 50 0.080
29
HMF006 Hemifacial Microsomia 50 0.080
30
ARC007 Arachnoid Cysts 49 0.080
31
P BRC006 Brachydactyly 49 0.080
32
P CRV039 Cervicitis 49 0.080
33
P ENC008 Encephalocele 49 0.080
34
P PSD015 Pseudohypoparathyroidism 47 0.080
35
P VNT002 Ventricular Septal Defect 47 0.080
36
P MNT147 Mental Retardation 46 0.080
37
CHR008 Choroiditis 45 0.080
38
P SCL018 Scoliosis 45 0.080
39
ARC002 Arachnoiditis 39 0.080
40
APR001 Apraxia 38 0.080
41
c MNS014 Monosomy 22 20 0.080
42
c RNG021 Ring Chromosome 5 15 0.080
43
CHR170 Choroid Plexus Cyst 14 0.080
44
MRF001 Marfan Syndrome 75 0.057
45
AND015 Androgen Insensitivity 69 0.057
46
P ANG001 Angelman Syndrome 66 0.057
47
GLL008 Gilles De La Tourette Syndrome 64 0.057
48
GLN010 Glanzmann Thrombasthenia 63 0.057
49
ATS001 Autistic Disorder 61 0.057
50
GST092 Gastroesophageal Reflux 60 0.057
51
P TRN020 Turner Syndrome 58 0.057
52
CRY002 Cryptorchidism 57 0.057
53
P THY032 Thyroiditis 56 0.057
54
ULC004 Ulcerative Colitis 63 0.057
55
ACN002 Acanthosis Nigricans 55 0.057
56
CLT003 Colitis 54 0.057
57
WST001 West Syndrome 54 0.057
58
P ACR001 Aicardi-Goutieres Syndrome 54 0.057
59
EYD002 Eye Disease 54 0.057
60
P NRP001 Neuropathy 52 0.057
61
DSS009 Disseminated Intravascular Coagulation 52 0.057
62
c PST005 Posterior Uveitis 50 0.057
63
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.057
64
P DGR001 Digeorge Syndrome 49 0.057
65
P PRT013 Portal Hypertension 49 0.057
66
P MCR010 Microcephaly 49 0.057
67
c SPN225 Spondyloarthropathy 1 48 0.057
68
DWR001 Dwarfism 48 0.057
69
P SPR013 Spiradenoma 47 0.057
70
P GLY010 Glycine Encephalopathy 47 0.057
71
PLM031 Poliomyelitis 45 0.057
72
ASP001 Asperger Syndrome 45 0.057
73
THR013 Thoracic Outlet Syndrome 45 0.057
74
CRB045 Cerebellar Hypoplasia 44 0.057
75
P STR020 Strabismus 44 0.057
76
P INF016 Infantile Epileptic Encephalopathy 43 0.057
77
P SYN001 Syndactyly 43 0.057
78
CRH005 Crohn's Colitis 43 0.057
79
SKN023 Skin Tag 41 0.057
80
P MYP006 Myopia 41 0.057
81
c OPT055 Optic Atrophy Plus Syndrome 40 0.057
82
P TRC086 Trichohepatoenteric Syndrome 1 39 0.057
83
MYS038 Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 39 0.057
84
OPP004 Oppositional Defiant Disorder 37 0.057
85
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.057
86
CHR322 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 37 0.057
87
CLR096 Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 36 0.057
88
NRN002 Neuronitis 36 0.057
89
EMN001 Emanuel Syndrome 36 0.057
90
P HYP265 Hypotonia 34 0.057
91
SCT002 Scotoma 34 0.057
92
P ADT004 Auditory Neuropathy 33 0.057
93
c ART101 Aortic Valve Disease 2 32 0.057
94
HYP264 Hypertonia 30 0.057
95
P ATX010 Ataxia Neuropathy Spectrum 29 0.057
96
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.057
97
CHR211 Chromosome 18p Deletion Syndrome 28 0.057
98
VRT007 Vertical Talus, Congenital 25 0.057
99
CRN051 Craniofacial Microsomia 24 0.057
100
HRT011 Heart Septal Defect 23 0.057
101
ECH002 Echolalia 21 0.057
102
BFD003 Bifid Uvula 20 0.057
103
HYP144 Hyperacusis 19 0.057
104
c RNG009 Ring Chromosome 14 19 0.057
105
CHR270 Chromosome 9p Duplication 18 0.057
106
P INT105 Intellectual Disability Multi-Gene Panels 15 0.057
107
MTT004 Metatarsus Adductus 13 0.057
108
CHR210 Chromosome 17q Duplication 7 0.057