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Phenotypes for disease #02262 (RS1 (retinoschisis, type 1, X-linked), OMIM:312700)
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, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
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
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
Protein
: result from protein staining
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Column type
Example
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Text
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all entries containing 'Arg'
space
Text
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|
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
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all entries with this field empty
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Text
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all entries exactly matching 'p.0'
!=""
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!=""
all entries with this field not empty
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Text
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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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1042 entries on 11 pages. Showing entries 1 - 100.
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Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000066794
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087257
0000066795
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087258
0000066796
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087259
0000066797
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087260
0000066798
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087261
0000066799
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087262
0000066800
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087263
0000066801
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087264
0000066802
mild-moderate, typical X-linked juvenile retinoschisis, majority patients history of visual impairment appearing in early infancy; one patient had congenital nystagmus; visual acuity primarily 0.9-0.2, little-no deterioration through- out life
retinoschisis
RS1
Familial, X-linked recessive
-
-
-
-
-
Johan den Dunnen
00087265
0000066803
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087266
0000066804
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087267
0000066805
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087268
0000066806
see paper; ...
retinoschisis
rs1
Familial
28y
-
06y
-
-
Johan den Dunnen
00087269
0000066807
see paper; ...
retinoschisis
rs1
Familial
25y
-
02y
-
-
Johan den Dunnen
00087270
0000066808
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087271
0000066809
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00087272
0000066810
typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres
retinoschisis
RS1
Familial, X-linked recessive
-
-
-
-
-
Johan den Dunnen
00087273
0000066811
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087274
0000066812
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087275
0000066813
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00087276
0000066814
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087277
0000066815
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087278
0000066816
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087279
0000066817
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087280
0000066818
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087281
0000066819
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087282
0000066820
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087283
0000066821
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087284
0000066822
-
-
-
Unknown
-
-
-
-
-
Dorothy Trump
00087285
0000066823
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087286
0000066824
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087287
0000066825
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087288
0000066826
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087289
0000066827
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087290
0000066828
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087291
0000066829
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087292
0000066830
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087293
0000066831
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087294
0000066832
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087295
0000066833
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087296
0000066834
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087297
0000066835
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087298
0000066836
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087299
0000066837
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087300
0000066838
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087301
0000066839
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087302
0000066840
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087303
0000066841
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087304
0000066842
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087305
0000066843
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087306
0000066844
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087307
0000066845
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087308
0000066846
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087309
0000066847
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087310
0000066848
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087311
0000066849
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087312
0000066850
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087313
0000066851
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087314
0000066852
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087315
0000066853
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087316
0000066854
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087317
0000066855
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087318
0000066856
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087319
0000066857
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087320
0000066858
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087321
0000066859
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087322
0000066860
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087323
0000066861
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087324
0000066862
-
-
-
Isolated (sporadic)
-
-
-
-
-
Dorothy Trump
00087325
0000066863
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087326
0000066864
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087327
0000066865
-
-
-
Familial
-
-
-
-
-
Dorothy Trump
00087328
0000066866
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00087329
0000066867
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087330
0000066868
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087331
0000066869
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087332
0000066870
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087333
0000066871
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087334
0000066872
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087335
0000066873
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087336
0000066874
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087337
0000066875
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087338
0000066876
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087339
0000066877
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00087340
0000066878
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087341
0000066879
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087342
0000066880
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087343
0000066881
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087344
0000066882
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087345
0000066883
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087346
0000066884
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087347
0000066885
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087348
0000066886
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
00087349
0000066887
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087350
0000066888
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087351
0000066889
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087352
0000066890
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087353
0000066891
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087354
0000066892
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087355
0000066893
-
-
-
Familial
-
-
-
-
-
Johan den Dunnen
00087356
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