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Phenotypes for disease #00095 (AD3 (Alzheimer disease, type 3 (protection against, due to APOE3-Christchurch)), OMIM:607822)
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.
Diagnosis/Initial
: initial diagnosis, before molecular testing
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
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Protein
: result from protein staining
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
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
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
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
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
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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515 entries on 6 pages. Showing entries 1 - 100.
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Phenotype ID
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Diagnosis
Age/Onset
Phenotype/Onset
Phenotype details
Protein
Owner
Individual ID
0000120991
-
Familial, autosomal dominant
35y01m
-
-
-
-
-
-
Marc Cruts
00148573
0000120992
-
Familial, autosomal dominant
34y08m
-
-
-
-
-
-
Marc Cruts
00148574
0000120993
-
Familial, autosomal dominant
63y07m
-
-
-
-
-
-
Marc Cruts
00148575
0000120994
-
Familial
61y
-
-
-
-
-
-
Marc Cruts
00148576
0000120995
-
Familial
56y
-
-
-
-
-
-
Marc Cruts
00148577
0000120996
-
Familial, autosomal dominant
42y
-
-
-
-
-
-
Marc Cruts
00148578
0000120997
-
Familial
58y
-
-
-
-
-
-
Marc Cruts
00148579
0000120998
-
Isolated (sporadic)
62y
-
-
-
-
-
-
Marc Cruts
00148580
0000120999
-
Familial, autosomal dominant
46y
-
-
-
-
-
-
Marc Cruts
00148581
0000121000
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148582
0000121001
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148583
0000121002
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148584
0000121003
-
Familial, autosomal dominant
36y
-
-
-
-
-
-
Marc Cruts
00148585
0000121004
-
Familial, autosomal dominant
49y
-
-
-
-
-
-
Marc Cruts
00148586
0000121005
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148587
0000121006
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148588
0000121007
-
Familial, autosomal dominant
52y06m
-
-
-
-
-
-
Marc Cruts
00148589
0000121008
-
Familial, autosomal dominant
47y05m
-
-
-
-
-
-
Marc Cruts
00148590
0000121009
-
Familial, autosomal dominant
45y
-
-
-
-
-
-
Marc Cruts
00148591
0000121010
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148592
0000121011
-
Unknown
-
-
-
-
-
-
-
Marc Cruts
00148593
0000121012
-
Familial, autosomal dominant
30y04m
-
-
-
-
-
-
Marc Cruts
00148594
0000121013
-
Familial, autosomal dominant
45y08m
-
-
-
-
-
-
Marc Cruts
00148595
0000121014
-
Familial, autosomal dominant
41y04m
-
-
-
-
-
-
Marc Cruts
00148596
0000121015
-
Familial, autosomal dominant
46y05m
-
-
-
-
-
-
Marc Cruts
00148597
0000121016
-
Familial, autosomal dominant
46y
-
-
-
-
-
-
Marc Cruts
00148598
0000121017
-
Familial, autosomal dominant
46y11m
-
-
-
-
-
-
Marc Cruts
00148599
0000121018
-
Familial, autosomal dominant
43y02m
-
-
-
-
-
-
Marc Cruts
00148600
0000121019
-
Familial, autosomal dominant
40y04m
-
-
-
-
-
-
Marc Cruts
00148601
0000121020
-
Familial, autosomal dominant
51y08m
-
-
-
-
-
-
Marc Cruts
00148602
0000121021
-
Familial, autosomal dominant
47y11m
-
-
-
-
-
-
Marc Cruts
00148603
0000121022
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148604
0000121023
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148605
0000121024
-
Familial, autosomal dominant
44y02m
-
-
-
-
-
-
Marc Cruts
00148606
0000121025
-
Familial, autosomal dominant
41y
-
-
-
-
-
-
Marc Cruts
00148607
0000121026
-
Familial, autosomal dominant
43y
-
-
-
-
-
-
Marc Cruts
00148608
0000121027
-
Familial, autosomal dominant
52y02m
-
-
-
-
-
-
Marc Cruts
00148609
0000121028
-
Familial, autosomal dominant
35y
-
-
-
-
-
-
Marc Cruts
00148610
0000121029
-
Familial, autosomal dominant
37y08m
-
-
-
-
-
-
Marc Cruts
00148611
0000121030
-
Unknown
-
-
-
-
-
-
-
Marc Cruts
00148612
0000121031
-
Unknown
-
-
-
-
-
-
-
Marc Cruts
00148613
0000121032
-
Unknown
-
-
-
-
-
-
-
Marc Cruts
00148614
0000121033
-
Unknown
40y
-
-
-
-
-
-
Marc Cruts
00148615
0000121034
-
Familial
36y
-
-
-
-
-
-
Marc Cruts
00148616
0000121035
-
Familial
40y
-
-
-
-
-
-
Marc Cruts
00148617
0000121036
-
Familial
37y
-
-
-
-
-
-
Marc Cruts
00148618
0000121037
-
Familial
43y
-
-
-
-
-
-
Marc Cruts
00148619
0000121038
-
Familial, autosomal dominant
54y02m
-
-
-
-
-
-
Marc Cruts
00148620
0000121039
-
Familial
45y
-
-
-
-
-
-
Marc Cruts
00148621
0000121040
-
Familial, autosomal dominant
44y05m
-
-
-
-
-
-
Marc Cruts
00148622
0000121041
-
Familial, autosomal dominant
45y
-
-
-
-
-
-
Marc Cruts
00148623
0000121042
-
Familial, autosomal dominant
36y
-
-
-
-
-
-
Marc Cruts
00148624
0000121043
-
Familial, autosomal dominant
35y
-
-
-
-
-
-
Marc Cruts
00148625
0000121044
-
Familial, autosomal dominant
48y
-
-
-
-
-
-
Marc Cruts
00148626
0000121045
-
Familial, autosomal dominant
43y
-
-
-
-
-
-
Marc Cruts
00148627
0000121046
-
Familial, autosomal dominant
53y
-
-
-
-
-
-
Marc Cruts
00148628
0000121047
-
Familial, autosomal dominant
45y
-
-
-
-
-
-
Marc Cruts
00148629
0000121048
-
Familial, autosomal dominant
48y
-
-
-
-
-
-
Marc Cruts
00148630
0000121049
-
Familial, autosomal dominant
47y10m
-
-
-
-
-
-
Marc Cruts
00148631
0000121050
-
Unknown
-
-
-
-
-
-
-
Marc Cruts
00148632
0000121051
-
Familial
57y
-
-
-
-
-
-
Marc Cruts
00148633
0000121052
-
Familial
35y
-
-
-
-
-
-
Marc Cruts
00148634
0000121053
-
Isolated (sporadic)
41y
-
-
-
-
-
-
Marc Cruts
00148635
0000121054
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00148636
0000121055
-
Familial, autosomal dominant
42y
-
-
-
-
-
-
Marc Cruts
00148637
0000121057
-
Unknown
39y
-
-
-
-
-
-
Marc Cruts
00148639
0000121058
-
Unknown
47y
-
-
-
-
-
-
Marc Cruts
00148640
0000121059
-
Familial, autosomal dominant
35y
-
-
-
-
-
-
Marc Cruts
00148641
0000121061
-
Familial, autosomal dominant
32y06m
-
-
-
-
-
-
Marc Cruts
00148643
0000121062
-
Familial, autosomal dominant
50y
-
-
-
-
-
-
Marc Cruts
00148644
0000121063
-
Familial, autosomal dominant
59y
-
-
-
-
-
-
Marc Cruts
00148645
0000121064
-
Familial, autosomal dominant
56y08m
-
-
-
-
-
-
Marc Cruts
00148646
0000121065
-
Familial, autosomal dominant
59y06m
-
-
-
-
-
-
Marc Cruts
00148647
0000121066
-
Familial, autosomal dominant
50y02m
-
-
-
-
-
-
Marc Cruts
00148648
0000121067
-
Familial, autosomal dominant
60y10m
-
-
-
-
-
-
Marc Cruts
00148649
0000121068
-
Familial, autosomal dominant
59y07m
-
-
-
-
-
-
Marc Cruts
00148650
0000121069
-
Familial, autosomal dominant
52y10m
-
-
-
-
-
-
Marc Cruts
00148651
0000121070
-
Familial, autosomal dominant
50y
-
-
-
-
-
-
Marc Cruts
00148652
0000121071
-
Familial, autosomal dominant
47y06m
-
-
-
-
-
-
Marc Cruts
00148653
0000121072
-
Familial
51y
-
-
-
-
-
-
Marc Cruts
00148654
0000121073
-
Familial
35y
-
-
-
-
-
-
Marc Cruts
00148655
0000121074
-
Familial
53y
-
-
-
-
-
-
Marc Cruts
00148656
0000121075
-
Familial, autosomal dominant
55y
-
-
-
-
-
-
Marc Cruts
00148657
0000121076
-
Familial
43y
-
-
-
-
-
-
Marc Cruts
00148658
0000121077
-
Familial
50y04m
-
-
-
-
-
-
Marc Cruts
00148659
0000121078
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00148660
0000121079
-
Familial, autosomal dominant
51y
-
-
-
-
-
-
Marc Cruts
00148661
0000121080
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00148662
0000121081
-
Unknown
71y
-
-
-
-
-
-
Marc Cruts
00148663
0000121082
-
Familial, autosomal dominant
45y08m
-
-
-
-
-
-
Marc Cruts
00148664
0000121083
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00148665
0000121084
-
Familial, autosomal dominant
57y
-
-
-
-
-
-
Marc Cruts
00148666
0000121085
-
Familial, autosomal dominant
50y
-
-
-
-
-
-
Marc Cruts
00148667
0000121086
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00148668
0000121087
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00148669
0000121088
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00148670
0000121089
-
Unknown
-
-
-
-
-
-
-
Marc Cruts
00148671
0000121090
-
Familial
56y06m
-
-
-
-
-
-
Marc Cruts
00148672
0000121091
-
Familial, autosomal dominant
54y
-
-
-
-
-
-
Marc Cruts
00148673
0000121092
-
Familial, autosomal dominant
54y
-
-
-
-
-
-
Marc Cruts
00148674
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