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Phenotypes for disease #00098 (SLSN7 (Senior-Loken syndrome, type 7 (SLSN-7)), OMIM:613615)
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
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Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
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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285 entries on 3 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
0000121426
-
Familial, autosomal dominant
48y
-
-
-
-
-
-
Marc Cruts
00149008
0000121627
-
Familial
58y
-
-
-
-
-
-
Marc Cruts
00149209
0000121672
-
Familial
65y
-
-
-
-
-
-
Marc Cruts
00149254
0000121737
-
Familial
63y
-
-
-
-
-
-
Marc Cruts
00149321
0000121745
-
Familial
52y
-
-
-
-
-
-
Marc Cruts
00149329
0000121817
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149402
0000121868
-
Familial
63y
-
-
-
-
-
-
Marc Cruts
00149453
0000121880
-
Familial
64y
-
-
-
-
-
-
Marc Cruts
00149465
0000121897
-
Unknown
52y
-
-
-
-
-
-
Marc Cruts
00149482
0000121898
-
Familial, autosomal dominant
58y
-
-
-
-
-
-
Marc Cruts
00149483
0000121951
-
Familial
57y
-
-
-
-
-
-
Marc Cruts
00149536
0000122130
-
Familial, autosomal dominant
59y
-
-
-
-
-
-
Marc Cruts
00149716
0000122140
-
Familial
65y
-
-
-
-
-
-
Marc Cruts
00149726
0000122141
-
Familial
60y
-
-
-
-
-
-
Marc Cruts
00149727
0000122142
-
Familial
69y
-
-
-
-
-
-
Marc Cruts
00149728
0000122143
-
Familial
65y
-
-
-
-
-
-
Marc Cruts
00149729
0000122144
-
Familial
50y
-
-
-
-
-
-
Marc Cruts
00149730
0000122145
-
Familial
60y
-
-
-
-
-
-
Marc Cruts
00149731
0000122146
-
Familial
47y
-
-
-
-
-
-
Marc Cruts
00149732
0000122147
-
Familial
55y
-
-
-
-
-
-
Marc Cruts
00149733
0000122148
-
Isolated (sporadic)
62y
-
-
-
-
-
-
Marc Cruts
00149734
0000122149
-
Isolated (sporadic)
38y
-
-
-
-
-
-
Marc Cruts
00149735
0000122150
-
Unknown
65y
-
-
-
-
-
-
Marc Cruts
00149736
0000122151
-
Familial, autosomal dominant
45y10m
-
-
-
-
-
-
Marc Cruts
00149737
0000122209
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149795
0000122210
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149796
0000122211
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149797
0000122212
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149798
0000122213
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149799
0000122214
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149800
0000122215
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149801
0000122216
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149802
0000122217
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149803
0000122218
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149804
0000122219
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149805
0000122220
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149806
0000122221
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149807
0000122222
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149808
0000122223
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149809
0000122224
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149810
0000122225
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00149811
0000122226
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Marc Cruts
00149812
0000122227
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149813
0000122228
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149814
0000122229
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149815
0000122230
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149816
0000122231
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149817
0000122232
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149818
0000122233
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149819
0000122234
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149820
0000122235
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149821
0000122236
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149822
0000122237
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149823
0000122238
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149824
0000122239
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149825
0000122240
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149826
0000122241
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149827
0000122242
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149828
0000122243
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149829
0000122244
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149830
0000122245
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149831
0000122246
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149832
0000122247
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149833
0000122248
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149834
0000122249
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149835
0000122250
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149836
0000122251
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149837
0000122252
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149838
0000122253
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149839
0000122254
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149840
0000122255
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149841
0000122256
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149842
0000122257
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149843
0000122258
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149844
0000122259
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149845
0000122260
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149846
0000122261
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149847
0000122262
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149848
0000122263
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149849
0000122264
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149850
0000122265
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149851
0000122266
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149852
0000122267
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149853
0000122268
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149854
0000122269
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149855
0000122270
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149856
0000122271
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149857
0000122272
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149858
0000122273
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149859
0000122274
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149860
0000122275
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149861
0000122276
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149862
0000122277
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149863
0000122278
-
Familial
-
-
-
-
-
-
-
Marc Cruts
00149864
0000122279
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149865
0000122280
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149866
0000122281
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149867
0000122282
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149868
0000122283
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149869
0000122284
-
Isolated (sporadic)
-
-
-
-
-
-
-
Marc Cruts
00149870
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