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

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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

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

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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

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Global Variome shared LOVD

ZFPM2 (zinc finger protein, FOG family member 2)