Disease #01773 (RDEB (epidermolysis bullosa dystrophica, autosomal recessive (RDEB)), OMIM:226600)

Official abbreviation	RDEB
Name	epidermolysis bullosa dystrophica, autosomal recessive (RDEB)
OMIM ID	226600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	418
Phenotype entries for this disease	411
Associated with 2 genes	COL7A1, MMP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
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Bahamas
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Bahrain
(Bahrain)
Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
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Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
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Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
(Iraq)
Ireland
(Ireland)
Israel
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Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Nicaragua
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Niger
(Niger)
Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
(Oman)
Pakistan
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Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
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

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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!=""	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
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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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418 entries on 5 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00248990	-	-	-	-	-	-	-	-	-	-	-	RDEB	pretibial	COL7A1	COL7A1	1	1	Peter van den Akker
00248991	-	-	-	M	-	United States	-	-	-	-	-	RDEB	severe, mutilating	COL7A1	COL7A1	1	1	LOVD
00248992	-	-	-	F	-	United States	-	-	-	-	-	RDEB	severe, mutilating	COL7A1	COL7A1	1	1	LOVD
00248993	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00248994	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00248995	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00248996	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00248997	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00248998	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00248999	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249000	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249001	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249002	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249003	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249004	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249005	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249006	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249007	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249008	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249009	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249010	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249011	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249012	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249013	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249014	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249015	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249016	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249017	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249018	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249019	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249020	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249021	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249022	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249023	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249025	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249026	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249027	-	-	-	-	-	-	-	-	-	-	-	RDEB	pretibial	COL7A1	COL7A1	1	1	Peter van den Akker
00249028	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249029	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249030	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249031	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249032	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249033	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249034	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249035	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249036	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249037	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249038	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	1	1	Peter van den Akker
00249040	-	-	-	-	-	-	-	-	-	-	-	RDEB	inversa	COL7A1	COL7A1	1	1	Peter van den Akker
00249044	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249045	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249046	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	1	1	Peter van den Akker
00249048	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	2	1	Peter van den Akker
00249049	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249050	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249051	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	2	1	Peter van den Akker
00249052	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249053	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249054	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249055	-	-	-	-	-	-	-	-	-	-	-	RDEB	pruriginosa	COL7A1	COL7A1	2	1	Peter van den Akker
00249057	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249058	-	-	-	-	-	-	-	-	-	-	-	RDEB	pretibial	COL7A1	COL7A1	2	1	Peter van den Akker
00249060	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249061	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249062	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249063	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249064	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249065	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249066	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249067	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249068	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249069	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249070	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	2	1	Peter van den Akker
00249071	-	-	-	-	-	-	-	-	-	-	-	RDEB	unknown	COL7A1	COL7A1	2	1	Peter van den Akker
00249072	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249073	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249074	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249075	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249076	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249077	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249078	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249079	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249080	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249081	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249082	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249083	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249084	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249085	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249086	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249087	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249088	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249089	-	-	-	-	-	-	-	-	-	-	-	RDEB	inversa	COL7A1	COL7A1	2	1	Peter van den Akker
00249090	-	-	-	-	-	-	-	-	-	-	-	RDEB	inversa	COL7A1	COL7A1	2	1	Peter van den Akker
00249091	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249092	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249093	-	-	-	-	-	-	-	-	-	-	-	RDEB	inversa	COL7A1	COL7A1	2	1	Peter van den Akker
00249094	-	-	-	-	-	-	-	-	-	-	-	RDEB	generalized other	COL7A1	COL7A1	2	1	Peter van den Akker
00249095	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker
00249096	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	1	1	Peter van den Akker
00249097	-	-	-	-	-	-	-	-	-	-	-	RDEB	severe generalized	COL7A1	COL7A1	2	1	Peter van den Akker

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DHX58 (DEXH (Asp-Glu-X-His) box polypeptide 58)