Global Variome shared LOVD
LOVD v.3.0 Build 28d [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotypes for disease #05323 (MYP (myopia (MYP)))
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/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
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
17 entries on 1 page. Showing entries 1 - 17.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000224024
high myopia, X-linked
-
MYP26
Familial, X-linked dominant, male sparing
-
-
-
-
Dejian Yuan
00296617
0000227535
onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases
myopia
MYP26
Familial, X-linked
-
-
-
-
Johan den Dunnen
00300233
0000227536
onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases
myopia
MYP26
Familial, X-linked
-
-
-
-
Johan den Dunnen
00300234
0000227537
onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases
myopia
MYP26
Familial, X-linked
-
-
-
-
Johan den Dunnen
00300235
0000227539
refraction spherical equivalent OD –9.25, OS –11.25
myopia
MYP26
Familial, X-linked
8y6m
2y
-
-
Johan den Dunnen
00300237
0000227540
onset early childhood, early onset high myopia, recently complicated retinal detachment right eye; refraction spherical equivalent OS –16.00
myopia
MYP26
Familial, X-linked
13y
-
-
-
Johan den Dunnen
00300238
0000227541
onset early childhood; refraction spherical equivalent OD –8.00, OS –20.50
myopia
MYP24
Familial, autosomal dominant
47y
-
-
-
Johan den Dunnen
00300239
0000227542
refraction spherical equivalent OD –11.50, OS –12.00
myopia
-
Familial, autosomal dominant
63y
6y
-
-
Johan den Dunnen
00300240
0000227543
refraction spherical equivalent OD –11.00, OS –13.00
myopia
MYP21
Familial, autosomal dominant
61y
5y
-
-
Johan den Dunnen
00300241
0000227544
onset early childhood; refraction spherical equivalent OD –16.50, OS –16.00
myopia
MYP21
Familial, autosomal dominant
50y
-
-
-
Johan den Dunnen
00300242
0000227545
refraction spherical equivalent OD –17.00, OS –17.50
myopia
-
Familial, autosomal dominant
69y
5y
-
-
Johan den Dunnen
00300243
0000227546
refraction spherical equivalent OD –9.25, OS –11.25
myopia
-
Familial, autosomal dominant
8y6m
2y
-
-
Johan den Dunnen
00300244
0000227547
onset early childhood; refraction spherical equivalent OD –13.00, OS –13.00
myopia
-
Familial, X-linked
59y
-
-
-
Johan den Dunnen
00300245
0000321772
high myopia
myopia
-
Familial, autosomal dominant
-
-
-
-
Johan den Dunnen
00431163
0000321773
high myopia
myopia
-
Familial, autosomal dominant
-
-
-
-
Johan den Dunnen
00431164
0000321774
high myopia
myopia
-
Unknown
-
-
-
-
Johan den Dunnen
00431165
0000321775
high myopia
myopia
-
Unknown
-
-
-
-
Johan den Dunnen
00431166
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 28d
LOVD software ©2004-2023
Leiden University Medical Center