Phenotypes for disease #05310 (myotonia (myotonia))

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.

234 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000087694	Myotonia F	-	-	Unknown	-	-	-	-	Johan den Dunnen	00111932
0000088283	see paper; ..., sodium channel myotonia	-	-	Isolated (sporadic)	35y	-	-	-	Masanori Takahashi	00112801
0000088455	MF	-	-	Unknown	-	-	-	-	Vincent Janmaat	00112973
0000088456	Myotonia F	-	-	Unknown	-	-	-	-	Vincent Janmaat	00112974
0000088466	Myotonia F	-	-	Unknown	-	-	-	-	Vincent Janmaat	00112984
0000088471	Myotonia F	-	-	Unknown	-	-	-	-	Vincent Janmaat	00112989
0000088577	Myotonia F	-	-	Unknown	-	-	-	-	Vincent Janmaat	00113095
0000127081	-	myotonia congenita	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111893
0000127082	-	myotonia congenita	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111886
0000127083	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111920
0000127084	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111949
0000127087	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111799
0000127088	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111906
0000127089	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111785
0000127090	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111867
0000127091	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111868
0000127092	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111804
0000127093	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111950
0000127094	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111869
0000127095	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111919
0000127096	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111810
0000127097	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111811
0000127098	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111763
0000127099	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111912
0000127100	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111889
0000127101	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111769
0000127102	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111953
0000127103	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111814
0000127104	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111895
0000127105	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111910
0000127106	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111896
0000127107	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111815
0000127108	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111897
0000127109	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111816
0000127110	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111819
0000127111	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111948
0000127112	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111898
0000127113	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111820
0000127114	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111937
0000127115	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111899
0000127116	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111823
0000127117	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111824
0000127118	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111787
0000127119	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111870
0000127120	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111827
0000127121	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111900
0000127122	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111829
0000127123	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111883
0000127124	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111834
0000127125	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111917
0000127126	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111836
0000127127	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111838
0000127128	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111901
0000127130	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111839
0000127131	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111842
0000127132	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111902
0000127134	-	-	Thomsen disease	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00111776
0000127135	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111952
0000127136	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111903
0000127137	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111871
0000127138	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111848
0000127139	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111947
0000127140	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111904
0000127141	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111852
0000127142	-	-	Thomsen disease	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00111930
0000127143	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111855
0000127144	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111857
0000127145	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111887
0000127147	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00111861
0000127148	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154409
0000127149	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154410
0000127150	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154411
0000127151	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154412
0000127152	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154413
0000127153	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154414
0000127154	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154415
0000127155	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154416
0000127156	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154417
0000127157	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154418
0000127158	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154419
0000127159	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154420
0000127160	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154421
0000127161	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154422
0000127162	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154423
0000127163	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154424
0000127164	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154425
0000127165	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154426
0000127166	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154427
0000127167	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154428
0000127168	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154429
0000127169	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154430
0000127170	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154431
0000127171	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154432
0000127172	-	-	Thomsen disease	Familial, autosomal dominant	-	-	-	-	Ieke Ginjaar	00154433
0000127173	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154434
0000127174	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154435
0000127175	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154436
0000127176	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154437
0000127177	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154438
0000127178	-	-	Becker disease	Familial, autosomal recessive	-	-	-	-	Ieke Ginjaar	00154439

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Global Variome shared LOVD

SLC7A14 (solute carrier family 7 (orphan transport...))