Disease #02233 (XHED (dysplasia, ectodermal, type 1, hypohidrotic, X-linked (XHED)), OMIM:305100)

Official abbreviation	XHED
Name	dysplasia, ectodermal, type 1, hypohidrotic, X-linked (XHED)
OMIM ID	305100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	199
Phenotype entries for this disease	194
Associated with 1 gene	EDA
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

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.

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
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
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
(Dominica)
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
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
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
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
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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=""	Text	="p.0"	all entries exactly matching 'p.0'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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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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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199 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00058482	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058483	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058484	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058485	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058486	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058487	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058488	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058489	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058490	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058491	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058492	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058493	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058494	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058495	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058496	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058497	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00058498	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00114974	-	PubMed: Kere 1996 PubMed: Paakkonen 2001	-	M	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114975	FamED1015	PubMed: Kere 1996	-	M	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114976	-	PubMed: Paakkonen 2001	-	?	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114977	-	PubMed: Cluzeau 2011	-	F	-	Algeria	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114978	-	PubMed: Gunadi 2009	-	M	-	Japan	Japanese	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114979	-	PubMed: Cluzeau 2011	-	F	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114980	-	PubMed: Cluzeau 2011	-	F	-	(France)	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114982	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114983	-	PubMed: Cluzeau 2011	-	F	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114985	-	PubMed: Monreal 1998; OMIM:var0006	-	-	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia	EDA	EDA	1	1	Céline Cluzeau
00114986	-	PubMed: Cluzeau 2011	Familial case	M	-	Martinique	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia	EDA	EDA	1	1	Céline Cluzeau
00114987	-	PubMed: Monreal 1998; OMIM:var0005	-	-	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia	EDA	EDA	1	1	Céline Cluzeau
00114988	-	PubMed: Cluzeau 2011	Familial case, consanguineous	M	-	Algeria	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia	EDA	EDA	1	1	Céline Cluzeau
00114989	-	PubMed: Cluzeau 2011	-	M	-	(France)	Portuguese	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114990	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114991	-	PubMed: Cluzeau 2011	-	M	-	France	French	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114992	-	PubMed: Cluzeau 2011	-	M	-	France	French	-	-	-	-	XHED	Conical teeth without agenesis; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114993	-	PubMed: Cluzeau 2011	-	M	-	(France)	Japanese	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114994	-	PubMed: Cluzeau 2011	-	M	-	France	French, Indian	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114995	-	PubMed: Vincent 2001	-	M	-	Tunisia	-	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114996	-	PubMed: Vincent 2001	-	F	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114997	-	PubMed: Vincent 2001	-	F	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00114999	-	PubMed: Paakkonen 2001	-	F	-	France	French	-	-	-	-	XHED	Conical teeth, without agenesis in this patient; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115000	-	PubMed: Paakkonen 2001	-	F	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115001	-	PubMed: Bayes 1998	-	M	-	France	French	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115002	-	PubMed: Bayes 1998	-	M	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115003	-	PubMed: Cluzeau 2011	-	F	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115004	-	PubMed: Cluzeau 2011	-	F	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115005	-	PubMed: Bayes 1998	-	M	-	-	-	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115006	-	PubMed: Bayes 1998	-	M	-	France	French	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115007	-	PubMed: Bayes 1998	-	M	-	-	Yemeni, Djibouti	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115008	-	PubMed: Bayes 1998	-	M	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115009	-	PubMed: Cluzeau 2011	-	M	-	France	French	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115010	-	PubMed: Cluzeau 2011	-	M	-	(France)	Congonese	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115011	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115012	-	PubMed: Bayes 1998	-	M	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115013	-	PubMed: Bayes 1998	-	M	-	-	-	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115014	-	PubMed: Monreal 1998	-	M	yes	Morocco	-	-	-	-	-	XHED	Nipples hypoplasia; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115015	-	PubMed: Monreal 1998	-	?	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115016	-	PubMed: Monreal 1998	-	?	-	-	-	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115017	-	PubMed: Monreal 1998	-	F	-	France	French	-	-	-	-	XHED	Hypoplasia of the right nipple; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115018	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115019	-	PubMed: Cluzeau 2011	-	M	-	(France)	Japanese	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115020	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Palmo-plantar keratoderma; Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115021	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115022	-	PubMed: Cluzeau 2011	-	M	-	(France)	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115023	-	PubMed: Vincent 2001	-	M	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115024	-	PubMed: Vincent 2001	-	M	-	-	-	-	-	-	-	XHED	susceptibility for pulmonary infections; Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115025	-	PubMed: Vincent 2001	-	M	-	-	-	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115026	-	PubMed: Cluzeau 2011	-	M	-	France	French	-	-	-	-	XHED	Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00115027	-	PubMed: Gunadi 2009	-	M	-	Japan	Japanese	-	-	-	-	XHED	Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100)	EDA	EDA	1	1	Céline Cluzeau
00299785	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299786	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299787	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299788	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299789	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299790	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299791	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299792	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299793	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299794	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299795	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299796	-	PubMed: Wohlfart 2016	-	-	no	Germany	-	-	-	-	-	XHED	hypohidrotic ectodermal dysplasia	EDA	EDA	1	1	Sigrun Maier-Wohlfart
00299805	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299806	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299807	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299808	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299809	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299810	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299811	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299812	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299813	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299814	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299815	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299816	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299817	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299818	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299819	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299820	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299821	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299822	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299823	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen
00299824	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	XHED	-	EDA	EDA	1	1	Johan den Dunnen

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Global Variome shared LOVD

GHR (growth hormone receptor)