Phenotypes for disease #01308 (DDEB (Epidermolysis bullosa dystrophica, AD), OMIM:131750)

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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

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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'

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89 entries on 1 page. Showing entries 1 - 89.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000187850	some family members Pasini type DDEB	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248885
0000187851	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248893
0000187852	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248894
0000187853	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248895
0000187854	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248896
0000187855	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248897
0000187857	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248899
0000187858	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248900
0000187859	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248901
0000187860	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248902
0000187862	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248904
0000187863	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248905
0000187864	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248906
0000187865	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248907
0000187866	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248908
0000187867	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248909
0000187868	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248910
0000187870	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248912
0000187871	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248913
0000187872	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248914
0000187873	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248915
0000187874	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248916
0000187875	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248917
0000187876	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248918
0000187877	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248919
0000187879	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248921
0000187881	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248923
0000187882	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248924
0000187883	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248925
0000187884	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248926
0000187885	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248927
0000187886	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248928
0000187887	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248929
0000187888	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248930
0000187889	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248931
0000187890	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248932
0000187891	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248933
0000187892	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248934
0000187895	acral	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248937
0000187896	acral	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248938
0000187897	acral	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248939
0000187898	acral	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248940
0000187899	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248941
0000187900	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248942
0000187901	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248943
0000187902	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248944
0000187903	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248945
0000187904	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248946
0000187905	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248947
0000187906	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248948
0000187907	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248949
0000187908	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248950
0000187912	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248954
0000187914	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248956
0000187915	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248957
0000187916	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248958
0000187917	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248959
0000187918	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248960
0000187919	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248961
0000187922	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248964
0000187923	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248965
0000187924	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248966
0000187925	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248967
0000187929	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248971
0000187930	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248972
0000187931	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248973
0000187932	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248974
0000187933	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248975
0000187934	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248976
0000187935	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248977
0000187936	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248978
0000187938	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248980
0000187940	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248982
0000187944	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248986
0000187945	generalized	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248987
0000187946	bullous dermolysis of the newborn	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248988
0000187947	bullous dermolysis of the newborn	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00248989
0000188002	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00249044
0000188003	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00249045
0000188004	unknown	-	-	Familial, autosomal dominant	-	-	-	-	-	Peter van den Akker	00249046
0000188371	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248886
0000188372	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248887
0000188373	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248888
0000188374	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248889
0000188375	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248890
0000188376	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248891
0000188377	-	-	-	Familial, autosomal dominant	-	-	-	-	-	LOVD	00248892
0000232035	-	-	-	Unknown	-	-	-	-	-	Sha Hong	00306188
0000232038	-	-	-	Familial, autosomal dominant	-	-	-	-	-	Sha Hong	00306191

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Global Variome shared LOVD

PTGES (prostaglandin E synthase)