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Phenotypes for disease #00125 (FANCA (Fanconi anemia, complementation group A (FANCA)), OMIM:227650)
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
992 entries on 10 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
0000000649
-
Unknown
-
-
-
-
-
fanconie anemia (FA), or FA-like phenotype
-
Johan den Dunnen
00001218
0000001948
-
Familial, X-linked recessive
16y
-
-
-
-
-
-
Leila Myrick
00003130
0000019152
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021381
0000019153
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021382
0000019154
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021383
0000019155
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021384
0000019156
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021385
0000019157
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021386
0000019158
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021387
0000019159
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021388
0000019160
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021389
0000019161
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021390
0000019162
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021391
0000019163
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021392
0000019164
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021393
0000019165
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021394
0000019166
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021395
0000019167
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021396
0000019168
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021397
0000019169
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021398
0000019170
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021399
0000019171
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021400
0000019172
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021401
0000019173
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021402
0000019174
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021403
0000019175
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021404
0000019176
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021405
0000019177
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021406
0000019178
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021407
0000019179
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021408
0000019180
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021409
0000019181
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021410
0000019182
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021411
0000019183
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021412
0000019184
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021413
0000019185
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021414
0000019186
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021415
0000019187
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021416
0000019188
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021417
0000019189
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021418
0000019190
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021419
0000019191
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021420
0000019192
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021421
0000019193
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021422
0000019194
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021423
0000019195
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021424
0000019196
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021425
0000019197
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021426
0000019198
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021427
0000019199
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021428
0000019200
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021429
0000019201
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021430
0000019202
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021431
0000019203
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021432
0000019204
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021433
0000019205
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021434
0000019206
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021435
0000019207
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021436
0000019208
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021437
0000019209
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021438
0000019210
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021439
0000019211
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021440
0000019212
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021441
0000019213
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021442
0000019214
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021443
0000019215
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021444
0000019216
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021445
0000019217
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021446
0000019218
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021447
0000019219
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021448
0000019220
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021449
0000019221
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021450
0000019222
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021451
0000019223
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021452
0000019224
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021453
0000019225
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021454
0000019226
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021455
0000019227
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021456
0000019228
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021457
0000019229
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021458
0000019230
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021459
0000019231
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021460
0000019232
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021461
0000019233
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021462
0000019234
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021463
0000019235
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021464
0000019236
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021465
0000019237
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021466
0000019238
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021467
0000019239
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021468
0000019240
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021469
0000019241
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021470
0000019242
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021471
0000019243
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021472
0000019244
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021473
0000019245
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021474
0000019246
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021475
0000019247
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021476
0000019248
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021477
0000019249
-
Unknown
-
-
-
-
-
-
-
Arleen D. Auerbach
00021478
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