Phenotypes for disease #01773 (RDEB (epidermolysis bullosa dystrophica, autosomal recessive (RDEB)), OMIM:226600)

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

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.

411 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000187949	severe, mutilating	-	-	Isolated (sporadic)	-	-	-	-	-	LOVD	00248991
0000187950	severe, mutilating	-	-	Isolated (sporadic)	-	-	-	-	-	LOVD	00248992
0000187951	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248993
0000187952	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248994
0000187953	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248995
0000187954	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248996
0000187955	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248997
0000187956	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248998
0000187957	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00248999
0000187958	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249000
0000187959	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249001
0000187960	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249002
0000187961	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249003
0000187962	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249004
0000187963	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249005
0000187964	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249006
0000187965	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249007
0000187966	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249008
0000187967	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249009
0000187968	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249010
0000187969	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249011
0000187970	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249012
0000187971	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249013
0000187972	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249014
0000187973	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249015
0000187974	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249016
0000187975	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249017
0000187976	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249018
0000187977	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249019
0000187978	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249020
0000187979	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249021
0000187980	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249022
0000187981	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249023
0000187982	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249024
0000187983	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249025
0000187984	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249026
0000187986	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249028
0000187987	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249029
0000187988	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249030
0000187989	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249031
0000187990	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249032
0000187991	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249033
0000187992	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249034
0000187993	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249035
0000187994	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249036
0000187995	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249037
0000187996	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249038
0000187997	inversa	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249039
0000187998	inversa	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249040
0000187999	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249041
0000188001	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249043
0000188005	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249047
0000188006	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249048
0000188007	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249049
0000188008	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249050
0000188009	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249051
0000188010	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249052
0000188011	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249053
0000188012	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249054
0000188014	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249056
0000188015	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249057
0000188017	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249059
0000188018	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249060
0000188019	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249061
0000188020	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249062
0000188021	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249063
0000188022	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249064
0000188023	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249065
0000188024	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249066
0000188025	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249067
0000188026	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249068
0000188027	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249069
0000188028	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249070
0000188029	unknown	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249071
0000188030	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249072
0000188031	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249073
0000188032	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249074
0000188033	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249075
0000188034	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249076
0000188035	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249077
0000188036	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249078
0000188037	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249079
0000188038	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249080
0000188039	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249081
0000188040	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249082
0000188041	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249083
0000188042	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249084
0000188043	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249085
0000188044	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249086
0000188045	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249087
0000188046	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249088
0000188047	inversa	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249089
0000188048	inversa	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249090
0000188049	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249091
0000188050	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249092
0000188051	inversa	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249093
0000188052	generalized other	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249094
0000188053	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249095
0000188054	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249096
0000188055	severe generalized	-	-	Familial, autosomal recessive	-	-	-	-	-	Peter van den Akker	00249097

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Global Variome shared LOVD