Human Ancestry Ontology
Human ancestry ontology for the NHGRI GWAS Catalog
Dani Welter
2.0
definition
definition_editor
alternative_term
definition_source
Congo
Republic of the Congo
Afghanistan
Albania
Algeria
American Samoa
Andorra
Angola
Anguilla
Antigua and Barbuda
Argentina
Armenia
Aruba
Australia
Austria
Azerbaijan
Bahrain
Bangladesh
Barbados
Belarus
Belgium
Belize
Benin
Bermuda
Bhutan
Bolivia
Bosnia and Herzegovina
Botswana
Brazil
British Virgin Islands
Brunei Darussalam
Brunei
Bulgaria
Burkina Faso
Burundi
Cambodia
Cameroon
Canada
Cape Verde
Cayman Islands
Central African Republic
Chad
Channel Islands
Chile
China
Christmas Island
Colombia
Comoros
Cook Islands
Costa Rica
Croatia
Cuba
Curacao
Cyprus
Czech Republic
Democratic Republic of the Congo
Denmark
Djibouti
Dominica
Dominican Republic
Timor-Leste
East Timor
Ecuador
Egypt
El Salvador
Equatorial Guinea
Eritrea
Estonia
Ethiopia
Faeroe Islands
Falkland Islands (Malvinas)
Falkland Islands
Micronesia (Federated States of)
Fiji
Finland
France
French Guiana
French Polynesia
Gabon
Germany
Ghana
Gibraltar
Greece
Greenland
Grenada
Guadeloupe
Guam
Guatemala
Guinea
Guinea-Bissau
Guyana
Haiti
Holy See
Honduras
China, Hong Kong SAR
Hong Kong
Hungary
Iceland
India
Indonesia
Iran (Islamic Republic of)
Iran
Iraq
Isle of Man
Israel
Italy
Côte d'Ivoire
Ivory Coast
Jamaica
Japan
Jordan
Kazakhstan
Kenya
Kiribati
Kosovo
Kuwait
Kyrgyzstan
Lao People's Democratic Republic
Laos
Latvia
Lebanon
Lesotho
Liberia
Libyan Arab Jamahiriya
Libya
Liechtenstein
Lithuania
Luxembourg
China, Macao SAR
Macau
Madagascar
Malawi
Malaysia
Maldives
Mali
Malta
Marshall Islands
Martinique
Mauritania
Mauretania
Mauritius
Mayotte
Mexico
Republic of Moldova
Moldova
Monaco
Mongolia
Montenegro
Montserrat
Morocco
Mozambique
Burma
Myanmar
Namibia
Nauru
Nepal
Netherlands
Netherlands Antilles
New Caledonia
New Zealand
Nicaragua
Niger
Nigeria
Niue
Norfolk Island
Democratic People's Republic of Korea
North Korea
Northern Mariana Islands
Norway
Oman
Pakistan
Palau
Occupied Palestinian Territory
Palestinian Territories
Panama
Papua New Guinea
Paraguay
Peru
Philippines
Pitcairn
Pitcairn Islands
Poland
Portugal
Puerto Rico
Qatar
Ireland
Republic of Ireland
The former Yugoslav Republic of Macedonia
Republic of Macedonia
Romania
Russian Federation
Russia
Rwanda
Réunion
St. Helena
Saint Helena
Saint Kitts and Nevis
Saint Lucia
Saint Martin
Saint-Pierre-et-Miquelon
Saint Pierre and Miquelon
Saint Vincent and the Grenadines
Samoa
San Marino
Saudi Arabia
Scotland
Senegal
Serbia
Seychelles
Sierra Leone
Singapore
Sint Maarten
Slovakia
Slovenia
Solomon Islands
Somalia
South Africa
Republic of Korea
South Korea
South Sudan
Spain
Sri Lanka
Sudan
Suriname
Swaziland
Sweden
Switzerland
Syria
São Tomé and Príncipe
Taiwan
Tajikistan
United Republic of Tanzania
Tanzania
Thailand
Bahamas
The Bahamas
Gambia
The Gambia
Togo
Tokelau
Tonga
Trinidad and Tobago
Tunisia
Turkey
Turkmenistan
Turks and Caicos Islands
Tuvalu
Uganda
Ukraine
United Arab Emirates
U.K.
United Kingdom
U.S.
United States
U.S. Virgin Islands
United States Virgin Islands
Uruguay
Uzbekistan
Vanuatu
Venezuela
Vietnam
Wallis and Futuna Islands
Wallis and Futuna
Western Sahara
Yemen
Zambia
Zimbabwe
Cocos (Keeling) Islands
Georgia
major area
continent
geographical area
region
A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states.
NCIT:C25464
country
ancestral group
ancestry category
Includes individuals who either self-report or have been described by authors as
European, Caucasian, White or one of the sub-populations from this region (e.g Dutch). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CEU, FIN, GBR, IBS and TSI populations.
Caucasian
white
European
Includes individuals who either self-report or have been described by authors as South Asian or one of the sub-populations from this region (e.g Asian Indian). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap
BEB, GIH, ITU, PJL and STU populations.
South Asian
Includes individuals who either self-report or have been described by authors as South East Asian or one of the sub-populations from this region (e.g Vietnamese). This category also includes includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes KHV population. We note that East Asian and South East Asian populations are often conflated. However, recent studies indicate a unique genetic background for South East Asian populations.
South East Asian
Includes individuals that either self-report or have been described as Asian but there was not sufficient information to allow classification as East Asian, Central Asian, South Asian or South-East Asian.
Asian unspecified
Asian
Includes individuals who either self-report or have been described by authors as East Asian or one of the sub-populations from this region (e.g Chinese). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CDX, CHB, CHS and JPT populations.
East Asian
Includes individuals that either self-report or have been described as African, but there was not sufficient information to allow classification as African American, AfroCaribbean or Sub-Saharan African.
African unspecified
African
Includes individuals who either self-report or have been described by authors as SubSaharan African or one of the subpopulations from this region (e.g. Yoruban).
This category also includes individuals who genetically cluster with reference populations from this region for example 1000 Genomes and/or HapMap ESN, LWK, GWD, MSL, MKK and YRI populations.
Sub-Saharan African
Includes indigenous individuals of North, Central and South America, descended from the original human migration into the Americas from Siberia. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap.
American Indian
Native American
Includes individuals who either self-report or are described by authors as Hispanic, Latino, Latin American or one of the sub-populations
from this region. This category includes individuals with known admixture of primarily European, African and Native American ancestries, though some may have also a degree of Asian (e.g. Peru). We also note that the levels of admixture vary depending on the country, with Caribbean countries carrying higher levels of African admixture when compared to South American countries, for example. This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CLM, MXL, PEL and PUR populations
Emily Bowler
Hispanic or Latin American
Includes individuals who self-report or were described by authors as Middle Eastern, North African, Persian or one of the subpopulations from this region (e.g. Saudi Arabian). We note there is heterogeneity in this category with different degrees of admixture as well as levels of genetic isolation. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap.
Middle Eastern/North African
Greater Middle Eastern (Middle Eastern, North African or Persian)
Includes individuals who either self-report or have been described by authors as African American or Afro-Caribbean. This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap ACB or ASW populations. We note that there is likely to be significant admixture with European ancestry populations.
African American or Afro-Caribbean
Includes individuals that either self-report or have been described by authors as
Oceanian or one of the sub-populations from this region (e.g. Native Hawaiian). We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap.
Oceanian
a population for which specific ancestry information is known but that does not fall into any of the defined ancestry categories
uncategorised population
Japanese
Taiwanese
Chinese
Korean
Mongolian
Macanese
Singaporean Chinese
Hong Kong Chinese
Han Chinese
Africa
Asia
Europe
Oceania
Latin America and the Caribbean
Northern America
Eastern Africa
Middle Africa
Northern Africa
Southern Africa
Western Africa
South-Central Asia
South-Eastern Asia
Western Asia
Eastern Europe
Northern Europe
Southern Europe
Western Europe
Caribbean
South America
Central America
Australia/New Zealand
Melanesia
Micronesia
Polynesia
Eastern Asia
Includes individuals who either self-report or have been described by authors as Central Asian. We note that there does not appear to be a suitable reference population for this population and efforts are required to fill this gap.
Central Asian
Scandinavia
South Asia
founder population
population isolate
genetically isolated population
ancestry status
genetically isolated ancestry
admixed ancestry
Italian
Sardinian
Val Borbera
Friuli Venezia Giulia
Carlantino
Old Order Amish
Sorbian
Hutterite
Amish
Erasmus Rucphen
Orcadian
Korculan
Dutch
Finish
Finish founder
Dutch founder
Ashkenazi Jew
Caribbean
Sudanese
Sahrawi
Anguillan
Antiguan or Barbudan
Barbadian
Haitian
Jamaican
Tajikistani
Turkmen
Uzbekistani
Afghan
Kazakhstani
Kyrgyzstani
Albanian
Andorran
Australian
Austrian
Belarusian
Belgian
Bermudian
Bosnian or Herzegovinian
Brazilian
Bulgarian
Canadian
Channel Islander
Chilean
Croatian
Czech
Danish
Estonian
Faroese
Falkland Islander
French
German
Gibraltarian
Greek
Greenlander
Hungrian
Icelandic
Manx
Latvian
Liechtensteiner
Lithuanian
Luxembourgish
Maltese
Monegasque
Montenegrin
New Zealandish
Norfolk Islander
Norwegian
Polish
Portugese
Irish
Moldovan
Romanian
Russian
Saint-Pierrais or Miquelonnais
Sammarinese
Serb
Slovak
Slovene
Spanish
Swedish
Swiss
Macedonian
Ukrainian
Argentine
Bahamian
Belizean
Bolivian
British Virgin Islander
Caymanian
Colombian
Costa Rican
Cuban
Dominican
Ecuadorian
Salvadoran
French Guianese
Grenadian
Guatemalan
Guyanese
Honduran
Martinican
Mexican
Montserratian
Nicaraguan
Panamanian
Paraguayan
Peruvian
Puerto Rican
Kittitian or Nevisian
Saint Lucian
Saint Vincentian
Surinamer
Surinamese
Trinidadian or Tobagonian
Turks and Caicos Islander
Virgin Islander
Uruguayan
Venezuelan
Algerian
Armenian
Azerbaijani
Bahraini
Cypriote
Egyptian
Georgian
Iranian
Iraqi
Israeli
Jordanian
Kuwaiti
Lebanese
Libyan
Moroccan
Palestinian
Omani
Qatari
Saudi
Tunisian
Turkish
Emirati
Yemeni
Aruban
Christmas Islander
Cocos Islander
Curacaoan
Kosovar
Northern Mariana Islander
South Sudanese
Syrian
British
American
American Samoan
Cook Islander
Fijian
French Polynesian
Guamanian
I-Kiribati
Marshallese
Micronesian
Nauruan
New Caledonian
Niuean
Palauan
Papua New Guinean
Pitcairn Islander
Samoan
Solomon Islander
Tokelauan
Tongan
Tuvaluan
Ni-Vanuato
Wallis and Futuna Islander
Bangladeshi
Bhutanese
Indian
Maldivian
Nepalese
Pakistani
Sri Lankan
Bruneian
Cambodian
Indonesian
Lao
Malaysian
Burmese
Filipino
Thai
Timorese
Vietnamese
Cameroonian
Cape Verdean
Chadian
Ethiopian
Kenyan
Liberian
Malagasy
Mauritanian
Mauritian
Mahoran
Namibian
Sao Tomean
Senegalese
Seychellois
Sierra Leonean
Somali
South African
St. Helenian
Ugandan
Angolan
Beninese
Motswana
Burkinabe
Burundian
Central African
Comoran
Congolese
Ivoirian
Djiboutian
Equatorial Guinean
Eritrean
Gabonese
Gambian
Ghanaian
Guinean
Bissau-Guinean
Mosotho
Malawian
Malian
Mozambican
Nigerien
Nigerian
Rwandan
Swazi
Togolese
Tanzanian
Zambian
Zimbabweian
Irish founder
genetically homogenous Irish
Includes individuals who either self-report or have been described by authors as
Australian Aboriginal. These are expected to be descendents of early human migration into Australia from Eastern Asia and can be distinguished from other Asian populations by mtDNA and Y chromosome variation.
Aboriginal Australian
Includes native populations of Alaska, Siberia, and the Aleutian Archipelago. This
category does not include all native populations within the Arctic circle for example the Finnish Saami who are descended from Europeans and are therefore included within the European ancestry category.
Circumpolar people
Silk Road founder
Arab Israeli founder
Cilento
Costa Rican founder
French Canadian founder
Italian founder
Northern Finnish founder
Romanian founder
South Tyrolean
Vis founder
Split founder
population for which insufficient information is available to allocate it to a specific ancestral group or which contain individuals from a range of known ancestry categories, eg American
undefined ancestry population
Afro-Caribbean
African American
Punjabi Sikh
obsolete class
part_of
has_part
hasEthnicPopulation
hasAncestryStatus
hasCountryOfOrigin
hasDemonym
isDemonymOf
term replaced by
location_of
located_in