Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
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Phenotypes for disease #00002 (beta-thal (beta thalassemia), OMIM:613985)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details
: Additional information on the phenotype of the individual.
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Complex
age of onset(months)
: age of onset(months)
HbA2(+E)%
: HbA2(+E)%
HbF%
: HbF%
HGB(g/L)
: HGB(g/L)
MCH(pg)
: MCH(pg)
MCV(fL)
: MCV(fL)
transfusion times per year
: transfusion times per year
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Column type
Example
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Text
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all entries containing 'Arg'
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Text
!fs
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Text
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all entries beginning with 'p.(Arg'
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Text
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
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Date
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all entries not matching March, 2020
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Date
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all entries before the year 2020
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Date
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all entries in or before June, 2020
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all entries after June, 2020
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Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
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Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
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all entries higher than 23
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Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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1027 entries on 11 pages. Showing entries 1 - 100.
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Phenotype ID
Phenotype details
Inheritance
age of onset(months)
HbA2(+E)%
HbF%
HGB(g/L)
MCH(pg)
MCV(fL)
transfusion times per year
Owner
Individual ID
0000000003
-
-
-
-
-
76
27.9
85.7
-
Qi Ming
00000004
0000000004
-
-
-
-
-
-
-
-
-
Qi Ming
00000005
0000000005
-
-
12
3
22.3
49
22.6
72
15
Qi Ming
00000006
0000000007
-
-
4
2.6
5.3
124
29.7
86
-
Qi Ming
00000008
0000000009
-
-
7
3.1
12.2
87
29.5
85
18
Qi Ming
00000010
0000000010
-
-
-
-
1.6
135
23.9
71.7
-
Qi Ming
00000011
0000000011
-
-
-
-
2.2
111
28.2
77.4
-
Qi Ming
00000012
0000000012
-
-
3
3.01
1.6
93
29.8
84
18
Qi Ming
00000013
0000000013
-
-
6
2.5
8.7
51
28.1
81
20
Qi Ming
00000014
0000000014
-
-
6
2.2
0.6
35
26.5
79
7
Qi Ming
00000015
0000000015
-
-
3
2.5
44.1
80
25
87
2
Qi Ming
00000016
0000000017
-
-
3
49.4
34.1
51
22.7
77
3
Qi Ming
00000018
0000000018
-
-
72
3.3
57.3
83
21.8
68
2
Qi Ming
00000019
0000000019
-
-
-
-
10.1
119
23.5
77.9
-
Qi Ming
00000020
0000000020
-
-
6
2.6
28.7
98
26.4
86
10
Qi Ming
00000021
0000000021
-
-
36
3.8
33.5
69
24.5
81
12
Qi Ming
00000022
0000000022
-
-
12
2.7
20.6
68
26.2
86
10
Qi Ming
00000023
0000000023
-
-
4
2.6
6.3
84
29.3
85
11
Qi Ming
00000024
0000000024
-
-
1
2.5
3.2
40
27.5
82
12
Qi Ming
00000025
0000000025
-
-
-
-
-
130
32.7
100.5
-
Qi Ming
00000026
0000000026
-
-
6
3.01
19
78
28.5
86
12
Qi Ming
00000027
0000000027
-
-
12
8.1
7
47
13
78
12
Qi Ming
00000028
0000000028
-
-
-
-
1.5
141
23.1
67.5
-
Qi Ming
00000029
0000000029
-
-
-
-
1.2
110
22.6
66.9
-
Qi Ming
00000030
0000000031
-
-
12
3.4
19.4
67
27.4
80
12
Qi Ming
00000032
0000000032
-
-
6
2.01
2.01
82
29.9
89
24
Qi Ming
00000033
0000000034
-
-
12
5.5
67.4
26
24.5
68
4
Qi Ming
00000035
0000000035
-
-
6
2.9
25.6
74
27.1
81
12
Qi Ming
00000036
0000000036
-
-
-
-
1.6
119
22.2
65.9
-
Qi Ming
00000037
0000000037
-
-
-
-
1.5
138
21.2
64.4
-
Qi Ming
00000038
0000000052
-
-
-
-
16.1
156
27.2
76.8
-
Qi Ming
00000053
0000000059
-
-
-
-
-
-
-
-
-
Qi Ming
00000060
0000000063
-
-
-
-
-
82
24.5
75
-
Qi Ming
00000064
0000000064
-
-
-
-
-
91
27.9
94.8
-
Qi Ming
00000065
0000000065
-
-
-
-
-
85
18.7
65.3
-
Qi Ming
00000066
0000000066
-
-
72
3.9
41.7
65
28.2
86
-
Qi Ming
00000067
0000000067
-
-
-
-
-
94
27.2
80.3
-
Qi Ming
00000068
0000000070
-
-
-
-
-
85
28.1
80.5
-
Qi Ming
00000071
0000000071
-
-
-
-
-
90
27.6
81.3
-
Qi Ming
00000072
0000000072
-
-
-
-
-
75
24.9
73.1
-
Qi Ming
00000073
0000000073
-
-
12
54
36.3
69
18.5
67
-
Qi Ming
00000074
0000000074
-
-
-
-
-
134
31
87
-
Qi Ming
00000075
0000000075
-
-
-
-
-
92
26.8
79.9
-
Qi Ming
00000076
0000000077
-
-
-
-
-
92
27.5
82.3
-
Qi Ming
00000078
0000000079
-
-
42
1.9
65.5
112
27.9
90
1
Qi Ming
00000080
0000000081
-
-
-
-
-
89
26.6
79.6
-
Qi Ming
00000082
0000000082
-
-
-
-
-
89
28
85.8
-
Qi Ming
00000083
0000000083
-
-
5
2.8
16.3
54
27.8
81
11
Qi Ming
00000084
0000000084
-
-
-
-
-
98
25.2
78
-
Qi Ming
00000085
0000000091
-
-
-
-
-
-
-
-
-
Qi Ming
00000092
0000000095
-
-
84
1.1
0.8
92
19.8
72
-
Qi Ming
00000096
0000000096
-
-
-
3.5
66
54
21.9
72
-
Qi Ming
00000097
0000000102
-
-
-
-
-
78
29.2
84
-
Qi Ming
00000103
0000000103
-
-
48
0.7
78.8
91
25.2
80
-
Qi Ming
00000104
0000000105
-
-
-
3.3
5.1
43
25.9
76
-
Qi Ming
00000106
0000000108
-
-
-
0.01
0.4
54
20.6
77
-
Qi Ming
00000109
0000000109
-
-
6
3.01
2.3
74
25.1
76
12
Qi Ming
00000110
0000000113
-
-
6
2
45.9
59
22.4
71
3
Qi Ming
00000114
0000000114
-
-
36
3.1
66.3
68
19.6
67
-
Qi Ming
00000115
0000000115
-
-
-
-
-
80
26.4
79.9
-
Qi Ming
00000116
0000000116
-
-
-
-
-
84
24.7
74.7
-
Qi Ming
00000117
0000000117
-
-
48
5.01
10.7
54
24.3
81
10
Qi Ming
00000118
0000000119
-
-
48
4
56.6
90
22.5
73
12
Qi Ming
00000120
0000000120
-
-
10
3.01
77.6
33
11.4
91
10
Qi Ming
00000121
0000000124
-
-
36
47.1
12.6
53
17
65
6
Qi Ming
00000125
0000000134
-
-
6
45.5
13
40
19.4
71
12
Qi Ming
00000135
0000000135
-
-
84
4.2
58
78
22.9
74
3
Qi Ming
00000136
0000000137
-
-
5
2.5
2.9
95
29.1
86
20
Qi Ming
00000138
0000000143
-
-
6
4.3
17.9
44
20.7
81
-
Qi Ming
00000144
0000000144
-
-
3
3.4
8.6
74
24.6
78
12
Qi Ming
00000145
0000000147
-
-
5
2.6
39.3
99
25.8
78
-
Qi Ming
00000148
0000000149
-
-
8
2.9
8.2
39
27
80
7
Qi Ming
00000150
0000000152
-
-
14
2.6
11.2
80
27.2
83
24
Qi Ming
00000153
0000000154
-
-
-
-
-
74
31.5
106.4
-
Qi Ming
00000155
0000000155
-
-
-
-
-
-
-
-
-
Qi Ming
00000156
0000000158
-
-
-
-
-
-
-
-
-
Qi Ming
00000159
0000000165
-
-
-
-
-
65
26.7
77
-
Qi Ming
00000166
0000000170
-
-
7
3.4
9.5
76
29.5
85
12
Qi Ming
00000171
0000000173
-
-
-
-
-
51
17.7
86.2
-
Qi Ming
00000174
0000000199
-
-
60
3.01
87.3
67
23
79
-
Qi Ming
00000200
0000000200
-
-
48
3.3
75.4
134
22.9
74
8
Qi Ming
00000201
0000000211
-
-
30
3.3
59.7
86
19.9
67
-
Qi Ming
00000212
0000000212
-
-
5
2.9
15.2
70
29.1
82
7
Qi Ming
00000213
0000000214
-
-
-
-
-
94
20.4
70.9
-
Qi Ming
00000215
0000000215
-
-
-
-
-
-
-
-
-
Qi Ming
00000216
0000000216
-
-
-
-
-
88
26.2
76.8
-
Qi Ming
00000217
0000000218
-
-
-
-
-
80
27.4
80.8
-
Qi Ming
00000219
0000000219
-
-
-
-
-
85
30.9
90.2
-
Qi Ming
00000220
0000000221
-
-
-
-
-
85
26.1
78.5
-
Qi Ming
00000222
0000000223
-
-
-
-
-
-
-
-
-
Qi Ming
00000224
0000000231
-
-
3
2.4
19.4
52
25.4
85
3
Qi Ming
00000232
0000000238
-
-
-
2.6
3.4
56
39.5
87
-
Qi Ming
00000239
0000000239
-
-
-
-
-
70
36.8
81.1
-
Qi Ming
00000240
0000000241
-
-
-
-
-
-
-
-
-
Qi Ming
00000242
0000000243
-
-
-
-
-
84
27.2
80.3
-
Qi Ming
00000244
0000000244
-
-
-
-
-
80
26.1
79.7
-
Qi Ming
00000245
0000000245
-
-
-
-
7.7
140
-
-
-
Qi Ming
00000246
0000000246
-
-
-
-
19.7
67
20.9
64.6
-
Qi Ming
00000247
0000000247
-
-
-
-
-
70
25.5
77.7
-
Qi Ming
00000248
0000000248
-
-
-
-
86.6
64
22.1
67.2
-
Qi Ming
00000249
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