225 hits were found for 'CHAT'

# Family MCID Name MIFTS Score
1
CRD002 Cri-Du-Chat Syndrome 46 16.887
2
c CHT004 Chat-Related Congenital Myasthenic Syndrome 3 9.871
3
MNT003 Mental Retardation in Cri-Du-Chat Syndrome 33 5.987
4
NRN002 Neuronitis 64 4.380
5
P ALZ001 Alzheimer's Disease 103 4.188
6
c CNG001 Congenital Myasthenic Syndrome 56 3.645
7
P RTT002 Rett Syndrome 85 2.910
8
OLV001 Olivopontocerebellar Atrophy 77 2.910
9
MLT021 Multiple System Atrophy 76 2.910
10
LWY001 Lewy Body Dementia 65 2.910
11
RTN003 Retinal Ischemia 56 2.910
12
P LBY004 Labyrinthitis 53 2.910
13
EPC002 Epicondylitis 41 2.910
14
HDN002 Head Injury 36 2.910
15
c CHR345 Chronic Pain 36 2.910
16
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 10 2.910
17
P AMY001 Amyotrophic Lateral Sclerosis 100 2.545
18
P PRK002 Parkinson's Disease 92 2.520
19
P HNT001 Huntington's Disease 87 2.520
20
P SCH015 Schizophrenia 77 2.520
21
PCK001 Pick's Disease 74 2.520
22
P NRB001 Neuroblastoma 71 2.520
23
P SDD001 Sudden Infant Death Syndrome 70 2.520
24
DMN002 Dementia 66 2.520
25
ISC004 Ischemia 64 2.520
26
DWN001 Down Syndrome 62 2.520
27
c LTR001 Lateral Sclerosis 55 2.520
28
MYS024 Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 32 2.135
29
NRP001 Neuropathy 61 2.113
30
c THY032 Thyroiditis 67 2.087
31
PLM031 Poliomyelitis 58 2.087
32
CYS001 Cystic Fibrosis 103 2.058
33
P MYC007 Myocardial Infarction 88 2.058
34
CRH001 Crohn's Disease 83 2.058
35
P MLT020 Multiple Sclerosis 82 2.058
36
P PHC003 Pheochromocytoma 81 2.058
37
P BPL003 Bipolar Disorder 80 2.058
38
c DBT009 Diabetes Mellitus 80 2.058
39
P MYS003 Myasthenia Gravis 79 2.058
40
P LKM002 Leukemia 79 2.058
41
c HPT021 Hepatitis 75 2.058
42
P PRG006 Progressive Supranuclear Palsy 70 2.058
43
P RSP003 Respiratory Failure 70 2.058
44
c PNC044 Pancreatitis 67 2.058
45
GNG013 Gingivitis 67 2.058
46
CHG001 Chagas Disease 66 2.058
47
MTR014 Motor Neuron Disease 63 2.058
48
BRN029 Brain Disease 62 2.058
49
RTN023 Retinitis 61 2.058
50
ANG020 Angiosarcoma 61 2.058
51
CHL014 Cholera 61 2.058
52
PSR002 Psoriasis 60 2.058
53
P ESP024 Esophagitis 60 2.058
54
ACH005 Achalasia 59 2.058
55
VSC002 Vascular Dementia 57 2.058
56
CRB009 Cerebritis 56 2.058
57
CNS004 Constipation 55 2.058
58
P MSC003 Muscular Atrophy 52 2.058
59
NCT002 Nicotine Dependence 51 2.058
60
TND004 Tendinopathy 48 2.058
61
TXC002 Toxic Encephalopathy 48 2.058
62
END072 Endotheliitis 47 2.058
63
HYP266 Hypoxia 43 2.058
64
TRT001 Teratocarcinoma 42 2.058
65
MMR004 Memory Impairment 41 2.058
66
NRP002 Neuroepithelioma 41 2.058
67
TND006 Tendinosis 40 2.058
68
RBF001 Riboflavin Deficiency 38 2.058
69
P PNC035 Pancreatic Cancer 95 1.455
70
P MLT019 Multiple Myeloma 89 1.455
71
P MLR004 Malaria 73 1.455
72
c MYL007 Myeloma 59 1.455
73
ALB002 Albinism 50 1.455
74
NRL007 Neurologic Diseases 44 1.455
75
P DST041 Distal Monosomy 3p 31 0.509
76
c DST047 Distal Monosomy 15q 20 0.464
77
c CHR220 Chromosome 1p Deletion 20 0.289
78
MNS013 Monosomy 13q34 17 0.248
79
c MNS014 Monosomy 22 12 0.244
80
c CHR243 Chromosome 3p Deletion 23 0.230
81
10P002 10p11.21p12.31 Microdeletion Syndrome 15 0.230
82
3Q2001 3q29 Deletion Syndrome 10 0.230
83
CHR456 Chromosome 15q25.2 Deletion 10 0.220
84
P DST011 Distal Chromosome 18q Deletion Syndrome 22 0.210
85
c CHR264 Chromosome 8p Deletion 17 0.210
86
8P1001 8p11.2 Deletion Syndrome 23 0.199
87
c DST037 Distal Monosomy 9p 21 0.188
88
c CHR181 Chromosome 10p Deletion 11 0.188
89
P ENC008 Encephalocele 34 0.175
90
c MNS008 Monosomy 21 22 0.175
91
IDP042 Idiopathic Recurrent Stupor 15 0.175
92
c CHR459 Chromosome Xp Deletion 12 0.175
93
1P3001 1p36 Deletion Syndrome 48 0.162
94
c CHR235 Chromosome 22q Deletion 15 0.162
95
12Q001 12q15q21.1 Microdeletion Syndrome 15 0.162
96
ADT004 Auditory Neuropathy 24 0.156
97
ANK002 Ankylosing Spondylitis 75 0.148
98
ARC007 Arachnoid Cysts 45 0.148
99
c 3Q2003 3q29 Microdeletion Syndrome 36 0.148
100
P VNT028 Ventricular Septal Defect 1 31 0.148
101
12Q002 12q14 Microdeletion Syndrome 31 0.148
102
c CHR208 Chromosome 17p Deletion 29 0.148
103
CHL109 Childhood Apraxia of Speech 24 0.148
104
c CHR193 Chromosome 13q Deletion 18 0.148
105
c CHR260 Chromosome 7p Deletion 15 0.148
106
c CHR189 Chromosome 12p Deletion 13 0.148
107
c CHR255 Chromosome 6p Deletion 13 0.148
108
c CHR211 Chromosome 18p Deletion Syndrome 12 0.148
109
PRX013 Proximal Chromosome 18q Deletion Syndrome 11 0.148
110
5Q2001 5q22 Deletion Syndrome 11 0.148
111
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 38 0.133
112
PTC001 Potocki-Shaffer Syndrome 34 0.133
113
YCH001 Y Chromosome Infertility 25 0.133
114
c 9Q2001 9q22.3 Microdeletion 18 0.133
115
c CHR241 Chromosome 2q24 Microdeletion Syndrome 18 0.133
116
c OTD001 Otodental Dysplasia 12 0.133
117
GLL008 Gilles De La Tourette Syndrome 73 0.124
118
P ATS007 Autism Spectrum Disorder 57 0.124
119
THR013 Thoracic Outlet Syndrome 54 0.115
120
c CHR253 Chromosome 5q Deletion 28 0.115
121
ENC017 Encephaloceles 26 0.115
122
c ATR072 Atrial Fibrillation, Familial, 13 18 0.115
123
c MNT173 Mental Retardation, Autosomal Recessive 34 15 0.115
124
XP1001 Xp11.3 Deletion Syndrome 12 0.115
125
c CHR198 Chromosome 15q Deletion 11 0.115
126
CRK001 Cork-Handlers' Disease 32 0.105
127
10Q001 10q22.3q23.3 Microdeletion Syndrome 23 0.105
128
c CHR215 Chromosome 19p Deletion 11 0.105
129
c LCL006 Localized Scleroderma 68 0.094
130
SCN006 Secondary Syphilis 55 0.094
131
WLL001 Williams-Beuren Syndrome 52 0.094
132
P CRV039 Cervicitis 52 0.094
133
P ALV004 Alveolar Rhabdomyosarcoma 51 0.094
134
JCB001 Jacobsen Syndrome 48 0.094
135
P TRC085 Trichorhinophalangeal Syndrome Type Ii 47 0.094
136
SCT002 Scotoma 42 0.094
137
CRB045 Cerebellar Hypoplasia 29 0.094
138
VRT007 Vertical Talus, Congenital 25 0.094
139
6Q1001 6q16 Deletion Syndrome 24 0.094
140
c CHR271 Chromosome 9q Deletion 19 0.094
141
ATR017 Atrial Septal Defect Coronary Sinus 15 0.094
142
CHR170 Choroid Plexus Cyst 8 0.094
143
c HYD006 Hydrocephalus 70 0.081
144
P ANG001 Angelman Syndrome 70 0.081
145
P DGR001 Digeorge Syndrome 67 0.081
146
P LRY019 Laryngitis 62 0.081
147
LRN003 Learning Disability 58 0.081
148
c VNT002 Ventricular Septal Defect 53 0.081
149
c CTR002 Cataract 53 0.081
150
c SYN001 Syndactyly 52 0.081
151
MNN014 Mononeuritis 48 0.081
152
CHL079 Children's Interstitial Lung Disease 46 0.081
153
P HYP163 Hyperlipidemia Type 3 27 0.081
154
c ATR034 Atrial Septal Defect 6 26 0.081
155
c MNS010 Monosomy Xp21 20 0.081
156
c TTL001 Total Internal Ophthalmoplegia 17 0.081
157
c PRM041 Primary Cortisol Resistance 13 0.081
158
P WSK001 Wiskott-Aldrich Syndrome 87 0.066
159
AGR001 Age Related Macular Degeneration 83 0.066
160
P TRN020 Turner Syndrome 77 0.066
161
BRN024 Bronchitis 76 0.066
162
ALB001 Albright's Hereditary Osteodystrophy 74 0.066
163
ACN002 Acanthosis Nigricans 73 0.066
164
PSY004 Psychotic Disorder 69 0.066
165
RLP001 Relapsing Polychondritis 69 0.066
166
ART019 Aortic Valve Stenosis 68 0.066
167
BRN022 Bronchiectasis 64 0.066
168
SMT015 Smith Magenis Syndrome 62 0.066
169
P HYP040 Hypospadias 59 0.066
170
EDW001 Edwards Syndrome 59 0.066
171
CHR008 Choroiditis 57 0.066
172
ARC002 Arachnoiditis 57 0.066
173
c PSD015 Pseudohypoparathyroidism 55 0.066
174
ATX019 Ataxia with Vitamin E Deficiency 55 0.066
175
P THR090 Thrombocythemia 1 54 0.066
176
MCR010 Microcephaly 53 0.066
177
APR001 Apraxia 53 0.066
178
MLL005 Miller-Dieker Syndrome 52 0.066
179
ADL002 Adult Syndrome 52 0.066
180
P KLF001 Kleefstra Syndrome 42 0.066
181
PHL006 Phelan-Mcdermid Syndrome 42 0.066
182
c INF016 Infantile Epileptic Encephalopathy 42 0.066
183
SYN053 Syndromic Diarrhea 42 0.066
184
MTC014 Mitochondrial Dna Deletion Syndromes 41 0.066
185
MNT147 Mental Retardation 35 0.066
186
HYP265 Hypotonia 30 0.066
187
c 2P2001 2p21 Microdeletion Syndrome 29 0.066
188
CRN051 Craniofacial Microsomia 26 0.066
189
NNS006 Non-Suppurative Otitis Media 26 0.066
190
c 1Q2001 1q21.1 Microdeletion 19 0.066
191
MRF001 Marfan Syndrome 92 0.047
192
AND002 Androgen Insensitivity Syndrome 88 0.047
193
P HYP075 Hypertension 86 0.047
194
GLN003 Glanzmann's Thrombasthenia 80 0.047
195
P ACT074 Acute Lymphocytic Leukemia 77 0.047
196
P CNG026 Congenital Heart Defect 73 0.047
197
ULC004 Ulcerative Colitis 72 0.047
198
ATS001 Autistic Disorder 72 0.047
199
ANT006 Antiphospholipid Syndrome 67 0.047
200
P PRT013 Portal Hypertension 67 0.047
201
DSS009 Disseminated Intravascular Coagulation 66 0.047
202
GLD001 Goldenhar Syndrome 65 0.047
203
WST001 West Syndrome 64 0.047
204
P INT068 Intestinal Disease 61 0.047
205
P VLC001 Velocardiofacial Syndrome 60 0.047
206
c AXN002 Axenfeld-Rieger Syndrome 60 0.047
207
P DWR001 Dwarfism 58 0.047
208
P SHR002 Short Stature 57 0.047
209
P INT063 Intellectual Disability 51 0.047
210
c CRN015 Cornelia De Lange Syndrome 51 0.047
211
SKN023 Skin Tag 50 0.047
212
ASP001 Asperger Syndrome 50 0.047
213
CNV002 Conversion Disorder 50 0.047
214
P GLY010 Glycine Encephalopathy 45 0.047
215
RCR001 Recurrent Corneal Erosion 44 0.047
216
P ATX010 Ataxia Neuropathy Spectrum 44 0.047
217
EMN001 Emanuel Syndrome 36 0.047
218
HRT011 Heart Septal Defect 36 0.047
219
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 36 0.047
220
IMG001 Image Syndrome 34 0.047
221
MTR001 Mature Cataract 34 0.047
222
P SLP004 Salpingo-Oophoritis 31 0.047
223
DYS036 Dysequilibrium Syndrome 28 0.047
224
P KRN003 Kernicterus Due to Isoimmunization 21 0.047
225
c CNG148 Congenital Heart Disease, Atrial Septal Defect 11 0.047