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.
How to query this table
All list views have search fields which can be used to search data.
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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' |
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When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
|
Legend |
How to query |
 Individual ID
|
 ID_report
|
Reference
|
Remarks
|
Gender
|
Consanguinity
|
Country
|
Population
|
Age at death
|
VIP
|
Data_av
|
Treatment
|
Disease
|
Phenotype details
|
Variants
|
Panel size
|
Owner
|
| 00050226 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
? |
severe undiagnosed developmental disorders |
1 |
1 |
Johan den Dunnen |
| 00050274 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
uninherited diplotypes |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
? |
severe undiagnosed developmental disorders |
1 |
1 |
Johan den Dunnen |
| 00050324 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
uninherited diplotypes |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
? |
severe undiagnosed developmental disorders |
1 |
1 |
Johan den Dunnen |
| 00229898 |
- |
- |
- |
F |
- |
France |
- |
- |
- |
- |
- |
HAE6 |
Proband presenting with a HAE-nlC1INH phenotype, with a history of recurrent facial swelling, including lips and tongue |
1 |
1 |
Christian Drouet |
| 00361887 |
family |
PubMed: Loules 2020, Journal: Loules 2020 |
3-generation family, 4 carriers (4 males), 3 affected individuals
The son of the proband had only one attack during his lifetime, he is carrier of KNG1 c.1720C>G variant, but not of the ACE c.1459C>T variant. |
M |
- |
Italy |
- |
- |
- |
- |
- |
HAE6 |
Proband and his son presenting with a classical HAE phenotype, whereas the second son experiencing a single attack following a viral infection |
1 |
3 |
Christian Drouet |
| 00361888 |
- |
PubMed: Bork 2019 Journal: Bork 2019 |
- |
- |
no |
Germany |
- |
- |
- |
- |
- |
HAE6 |
Proband presenting with a HAE-KNG phenotype |
1 |
6 |
Christian Drouet |
| 00361889 |
- |
Journal: Loules 2020 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
HAE6 |
- |
1 |
1 |
Christian Drouet |
| 00361890 |
- |
Journal: Loules 2020 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
HAE6 |
- |
1 |
1 |
Christian Drouet |
| 00412958 |
Pat5 |
PubMed: Barco 2020, Journal: Barco 2020 |
- |
F |
no |
Switzerland |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Compound heterozygous female proband presenting with a prolonged aPTT with a low antigenic HK and LK |
2 |
1 |
Christian Drouet |
| 00417864 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
HAE |
Proband presenting with a ACEi iatrogenic angioedema |
1 |
1 |
Christian Drouet |
| 00418368 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
healthy donor |
1 |
1 |
Christian Drouet |
| 00428671 |
- |
Journal: Adenaeuer 2023 |
- |
- |
- |
Italy |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a prolonged aPTT |
1 |
3 |
Christian Drouet |
| 00428672 |
- |
Journal: Nazir 2019 |
- |
F |
- |
Oman |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a prolonged aPTT |
1 |
1 |
Christian Drouet |
| 00428673 |
- |
Journal: Hayashi 1990 |
Undetectable plasma antigenic HK |
F |
likely |
Japan |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a prolonged aPTT |
1 |
4 |
Christian Drouet |
| 00428741 |
- |
Journal: Adenaeuer 2022 |
- |
F |
- |
Germany |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Compound heterozygous proband presenting with a prolonged aPTT |
2 |
3 |
Christian Drouet |
| 00430150 |
- |
Journal: Fukushima 2022 |
Homozygous proband with his three heterozygous children |
M |
- |
Japan |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a prolonged aPTT, with a strongly reduced expression of HK and LK |
1 |
4 |
Christian Drouet |
| 00430159 |
- |
Journal: Jeung 2020 |
- |
M |
- |
Korea |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Compound heterozygous proband presenting with prolonged aPTT, with undectectable functional an antigenic HK |
2 |
1 |
Christian Drouet |
| 00430175 |
- |
Journal: Krijanovski 2003 |
Proband homozygous carrier presenting with a markedly prolonged APTT with a normal
prothrombin time, thrombin time, and clottable fibrinogen.
No antigenic HK detected |
M |
yes |
France |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a markedly prolonged aPTT, with undetectable antigenic HK |
1 |
4 |
Christian Drouet |
| 00430176 |
- |
PubMed: Ishimaru 1999 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Homozygous proband presenting with a markedly prolonged aPTT |
1 |
1 |
Christian Drouet |
| 00430224 |
- |
Journal: Yang 2020 |
- |
M |
yes |
China |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Male homozygous proband and homozygous sisters presenting with a prolonged aPTT, with an absence of HK expression |
1 |
7 |
Christian Drouet |
| 00430225 |
- |
Journal: Shigekiyo 2007 |
- |
F |
yes |
Japan |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Female homozygous proband presenting with a prolonged aPTT |
1 |
6 |
Christian Drouet |
| 00444351 |
- |
- |
- |
- |
- |
Brazil |
- |
- |
- |
- |
- |
HAE6 |
Individual likely presenting with HAE with HAE-nlC1-INH phenotype |
1 |
1 |
Christian Drouet |
| 00448164 |
- |
Journal: Houlihan 2010 Journal: Morange 2011 Journal: Li 2023 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Christian Drouet |
| 00453459 |
- |
Journal: Chen 2024 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a prolonged aPTT |
1 |
6 |
Christian Drouet |
| 00460181 |
- |
Journal: Lv 2025 |
Single family with a compound heterozygous affected individual |
F |
no |
China |
- |
- |
- |
- |
- |
high molecular weight kininogen deficiency |
Proband presenting with a significant prolongation of the APTT without any bleeding disorder |
2 |
1 |
Christian Drouet |
| 00465604 |
- |
Journal: Chen 2025 |
Single individual; no relevant family history. Lanadelumab did not
significantly improve the frequency and severity of HAE attacks. |
F |
no |
China |
- |
- |
- |
- |
- |
HAE6 |
Recurrent angioedema of the facial skin since the age of 31 years not accompanied by abdominal pain or
bloating |
1 |
1 |
Christian Drouet |
| 00468572 |
- |
Journal: Dias de Castro 2024 |
- |
- |
no |
Portugal |
- |
- |
- |
- |
- |
HAE3 |
Probands presenting with HAE-KNGI phenotype |
1 |
38 |
Christian Drouet |
| 00469535 |
- |
Journal: Dias de Castro 2024 |
- |
F |
no |
Portugal |
- |
- |
- |
- |
- |
HAE6 |
Recurrent episodes of abdominal attacks since childhood, characterized by intense pain and abdominal distension, without other symptoms; episodes of angioedema of the lips.
She has never been on estrogen OC. |
1 |
1 |
Christian Drouet |
| 00469725 |
- |
Journal: Gao 2025 |
A single affected individual in a Chinese family |
M |
no |
China |
- |
- |
- |
- |
- |
HAE6 |
HAE-nC1INH with recurrent episodes of swelling affecting the cheeks and lips, with no itching, rash, or identifiable trigger. Each episode persisted for 2–3 days and resolved spontaneously. Antihistamine and traditional Chinese medicine
therapy failed to prevent attacks. |
1 |
1 |
Christian Drouet |
| 00469727 |
- |
Journal: Gao 2025 |
A single male individual in a Chinese family |
M |
no |
China |
- |
- |
- |
- |
- |
HAE6 |
HAE-nC1INH with recurrent swelling with blisters for over 7y, along with irregular episodes of pharyngeal edema and two emergency room visits for dyspnea within the past 3 years. |
1 |
1 |
Christian Drouet |
|
|
Legend |
How to query |
