'ethnicity category' 'geographic category' Human ancestry ontology for the NHGRI GWAS Catalog Human Ancestry Ontology 2024-04-25 editor preferred term The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English) PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> editor preferred term has curation status PERSON:Alan Ruttenberg PERSON:Bill Bug PERSON:Melanie Courtot has curation status definition term editor alternative_term definition_source has ontology root term Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root. Nicolas Matentzoglu has ontology root term term replaced by database_cross_reference has_exact_synonym hasEthnicPopulation true hasAncestryStatus hasCountryOfOrigin hasDemonym isDemonymOf GAZ:00006882 Afghanistan GAZ:00000457 Africa GAZ:00002953 Albania GAZ:00000563 Algeria GAZ:00003957 American Samoa GAZ:00002948 Andorra GAZ:00001095 Angola GAZ:00009159 Anguilla GAZ:00006883 Antigua and Barbuda GAZ:00002928 Argentina GAZ:00004094 Armenia GAZ:00004025 Aruba GAZ:00000465 Asia GAZ:00000463 Australia GAZ:00002942 Austria GAZ:00004941 Azerbaijan GAZ:00005281 Bahrain GAZ:00003750 Bangladesh GAZ:00001251 Barbados GAZ:00006886 Belarus GAZ:00002938 Belgium GAZ:00002934 Belize GAZ:00000904 Benin GAZ:00001264 Bermuda GAZ:00003920 Bhutan GAZ:00002511 Bolivia GAZ:00006887 Bosnia and Herzegovina GAZ:00001097 Botswana GAZ:00002828 Brazil GAZ:00003961 British Virgin Islands GAZ:00003901 Brunei Darussalam Brunei GAZ:00002950 Bulgaria GAZ:00000905 Burkina Faso GAZ:00001090 Burundi GAZ:00006888 Cambodia GAZ:00001093 Cameroon GAZ:00002560 Canada GAZ:00001227 Cape Verde Caribbean GAZ:00003986 Cayman Islands Middle Africa GAZ:00000588 Central Africa GAZ:00001089 Central African Republic GAZ:00002891 Central America GAZ:00000586 Chad GAZ:00001539 Channel Islands GAZ:00002825 Chile GAZ:00002845 China GAZ:00005915 Christmas Island GAZ:00002929 Colombia GAZ:00005820 Comoros GAZ:00053798 Cook Islands GAZ:00002901 Costa Rica GAZ:00002719 Croatia GAZ:00003762 Cuba GAZ:00012582 Curacao GAZ:00453362 Cyprus GAZ:00002954 Czech Republic GAZ:00001086 Democratic Republic of the Congo GAZ:00002635 Denmark GAZ:00000582 Djibouti GAZ:00006890 Dominica GAZ:00003952 Dominican Republic GAZ:00006913 Timor-Leste East Timor GAZ:00000556 Eastern Africa GAZ:00002471 Eastern Asia Eastern Europe GAZ:00002912 Ecuador GAZ:00003934 Egypt GAZ:00002935 El Salvador GAZ:00001091 Equatorial Guinea GAZ:00000581 Eritrea GAZ:00002959 Estonia GAZ:00001099 Eswatini GAZ:00000567 Ethiopia GAZ:00000464 Europe Faroe Islands GAZ:00059206 Faeroe Islands GAZ:00001412 Falkland Islands (Malvinas) Falkland Islands GAZ:00006897 Micronesia (Federated States of) GAZ:00006891 Fiji GAZ:00002937 Finland GAZ:00002940 France GAZ:00002516 French Guiana GAZ:00002918 French Polynesia GAZ:00001092 Gabon GAZ:00002646 Germany GAZ:00000908 Ghana GAZ:00003987 Gibraltar GAZ:00002945 Greece GAZ:00001507 Greenland GAZ:02000573 Grenada GAZ:00067135 Guadeloupe GAZ:00006933 Guam GAZ:00002936 Guatemala GAZ:00000909 Guinea GAZ:00000910 Guinea-Bissau GAZ:00002522 Guyana GAZ:00003953 Haiti GAZ:00003103 Holy See GAZ:00002894 Honduras GAZ:00003203 China, Hong Kong SAR Hong Kong GAZ:00002952 Hungary GAZ:00000843 Iceland GAZ:00002839 India GAZ:00003727 Indonesia GAZ:00004474 Iran (Islamic Republic of) Iran GAZ:00004483 Iraq GAZ:00052477 Isle of Man GAZ:00002476 Israel GAZ:00002650 Italy GAZ:00000906 Ivory Coast Côte d'Ivoire GAZ:00003781 Jamaica GAZ:00002747 Japan GAZ:00002473 Jordan GAZ:00004999 Kazakhstan GAZ:00001101 Kenya GAZ:00006894 Kiribati GAZ:00011337 Kosovo GAZ:00005285 Kuwait GAZ:00006893 Kyrgyzstan GAZ:00006889 Lao People's Democratic Republic Laos GAZ:00000459 Latin America and the Caribbean GAZ:00002958 Latvia GAZ:00002478 Lebanon GAZ:00001098 Lesotho GAZ:00000911 Liberia GAZ:00000566 Libyan Arab Jamahiriya Libya GAZ:00003858 Liechtenstein GAZ:00002960 Lithuania GAZ:00002947 Luxembourg GAZ:00003202 China, Macao SAR Macau GAZ:00001108 Madagascar GAZ:00001105 Malawi GAZ:00003902 Malaysia GAZ:00006896 Maldives GAZ:00000584 Mali GAZ:00004017 Malta GAZ:00007161 Marshall Islands GAZ:00003947 Martinique GAZ:00000583 Mauretania Mauritania GAZ:00003745 Mauritius GAZ:00003943 Mayotte GAZ:00005860 Melanesia GAZ:00002852 Mexico GAZ:00005862 Micronesia http://dbpedia.org/resource/Central_Africa true GAZ:00003897 Republic of Moldova Moldova GAZ:00003857 Monaco GAZ:00008744 Mongolia GAZ:00006898 Montenegro GAZ:00003988 Montserrat GAZ:00000565 Morocco GAZ:00001100 Mozambique GAZ:00006899 Burma Myanmar GAZ:00001096 Namibia GAZ:00006900 Nauru GAZ:00004399 Nepal GAZ:00001549 Netherlands GAZ:00004019 Netherlands Antilles GAZ:00005206 New Caledonia GAZ:00000469 New Zealand GAZ:00002978 Nicaragua GAZ:00000585 Niger GAZ:00000912 Nigeria Niue Fekai GAZ:00006902 Niue GAZ:00005913 Norfolk Island GAZ:00002801 Democratic People's Republic of Korea North Korea GAZ:00000555 Northern Africa GAZ:00000458 Northern America Northern Europe GAZ:00003958 Northern Mariana Islands Kingdom of Norway GAZ:00002699 Norway GAZ:00000468 Oceania GAZ:00005283 Oman GAZ:00005246 Pakistan GAZ:00006905 Palau GAZ:00002475 Occupied Palestinian Territory Palestinian Territories GAZ:00002892 Panama GAZ:00003922 Papua New Guinea GAZ:00002933 Paraguay GAZ:00002932 Peru The Philippines GAZ:00004525 Philippines Pitcairn GAZ:00005867 Pitcairn, Henderson, Ducie and Oeno Islands Pitcairn Islands GAZ:00002939 Poland GAZ:00005861 Polynesia Portugese Republic GAZ:00002944 Portugal Commonwealth of Puerto Rico GAZ:00006935 Puerto Rico GAZ:00005286 Qatar GAZ:00002943 Ireland Republic of Ireland GAZ:00006895 The former Yugoslav Republic of Macedonia Republic of Macedonia GAZ:00001088 Congo Republic of the Congo GAZ:00002951 Romania GAZ:00002721 Russian Federation Russia GAZ:00001087 Rwanda GAZ:00053746 Réunion GAZ:00000849 St. Helena Saint Helena GAZ:00006906 Saint Kitts and Nevis GAZ:00006909 Saint Lucia GAZ:00005841 Saint Martin GAZ:00003942 Saint-Pierre-et-Miquelon Saint Pierre and Miquelon GAZ:02000565 Saint Vincent and the Grenadines GAZ:00006910 Samoa GAZ:00003102 San Marino GAZ:00005279 Saudi Arabia Scandinavia GAZ:00002639 Scotland GAZ:00000913 Senegal GAZ:00002957 Serbia GAZ:00005821 Seychelles GAZ:00000914 Sierra Leone GAZ:00003923 Singapore GAZ:00012579 Sint Maarten GAZ:00002956 Slovakia GAZ:00002955 Slovenia GAZ:00005275 Solomon Islands GAZ:00001104 Somalia GAZ:00000559 South-Eastern Asia South-Central Asia GAZ:00000459 South America GAZ:00000553 South Africa GAZ:00002472 South Asia GAZ:00002802 Republic of Korea South Korea GAZ:00233439 South Sudan GAZ:00000553 Southern Africa Southern Europe GAZ:00000591 Spain GAZ:00003924 Sri Lanka GAZ:00000560 Sudan GAZ:00002525 Suriname http://dbpedia.org/resource/Eswatini obsolete Swaziland true GAZ:00002729 Sweden GAZ:00002941 Switzerland GAZ:00002474 Syria GAZ:00006927 São Tomé and Príncipe GAZ:00005341 Taiwan GAZ:00006912 Tajikistan GAZ:00001103 United Republic of Tanzania Tanzania GAZ:00003744 Thailand GAZ:00002733 Bahamas The Bahamas GAZ:00000907 Gambia The Gambia GAZ:00000915 Togo GAZ:00006914 Tokelau GAZ:00006916 Tonga GAZ:00003767 Trinidad and Tobago GAZ:00000562 Tunisia GAZ:00000558 Turkey GAZ:00005018 Turkmenistan GAZ:00003955 Turks and Caicos Islands GAZ:00009715 Tuvalu GAZ:00001102 Uganda GAZ:00002724 Ukraine GAZ:00005282 United Arab Emirates GAZ:00002637 U.K. United Kingdom U.S. GAZ:00002459 United States of America United States GAZ:00003959 U.S. Virgin Islands United States Virgin Islands GAZ:00002930 Uruguay GAZ:00004979 Uzbekistan GAZ:00006918 Vanuatu GAZ:00002931 Venezuela GAZ:00003756 Vietnam GAZ:00007191 Wallis and Futuna Islands Wallis and Futuna GAZ:00000554 Western Africa Western Asia Western Europe GAZ:00000564 Western Sahara GAZ:00005284 Yemen GAZ:00001107 Zambia GAZ:00001106 Zimbabwe GAZ:00009721 Cocos (Keeling) Islands GAZ:00004942 Georgia major area continent Any geographic area greater than an individual country but smaller than a continent, used as a convenience reference. Please note that most geographic areas may not be formally defined and exact boundaries can be debatable. 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 http://purl.obolibrary.org/obo/NCIT_C25464 obsolete country true Population category defined using ancestry informative markers (AIMs) based on genetic/genomic data 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 Jackie MacArthur Joannella Morales 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 or 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 non-aboriginal Taiwanese Taiwanese Chinese Korean Mongolian Macanese Singaporean Chinese Hong Kong Chinese Han Chinese obsolete Africa true obsolete Asia true obsolete Europe true obsolete Oceania true obsolete Latin America and the Caribbean true obsolete Northern America true obsolete Eastern Africa true obsolete Middle Africa true obsolete Northern Africa true obsolete Southern Africa true obsolete Western Africa true obsolete South Central Asia true obsolete South-Eastern Asia true obsolete Western Asia true obsolete Eastern Europe true obsolete Northern Europe true obsolete Southern Europe true obsolete Western Europe true obsolete Caribbean true obsolete South America true obsolete Central America true Australia/New Zealand obsolete Melanesia true obsolete Micronesia true obsolete Polynesia true obsolete Eastern Asia true 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 obsolete Scandinavia true obsolete South Asia true A population with increased genetic homogeneity and reduced genetic variation due to cultural or geographic isolation founder population population isolate genetically isolated population General characterisation of the ancestry of a population or individual ancestry status Ancestry that is the result of cultural or geographic isolation. Generally characterised by increased genetic homogeneity and reduced genetic variation genetically isolated ancestry Ancestry which is an admixture of more than one defined ancestral population. The degree and type of admixture may vary within a population and the accuracy of classification requires well-defined reference samples admixed ancestry Italian Sardinian Val Borbera Friuli Venezia Giulia Carlantino Old Order Amish Sorb Hutterite Amish Erasmus Rucphen Orcadian Korculan Dutch Finnish Finnish founder Dutch founder Ashkenazi Jew obsolete_Caribbean true 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 Hungarian 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 Arab 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 Asian Indian Indian Asian 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. obsolete_Circumpolar people true Silk Road founder Israeli Arab 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 African Caribbean Afro-Caribbean African American Talana Pima Indian Plains American Indian Kosraen Native Hawaiian Pacific Islander Yoruban West African Dai Chinese Hui Chinese Jingpo Chinese Malaysian Chinese Uigur Chinese Uygur Chinese Tibetan Han Taiwanese Taiwanese Han Sri Lankan Sinhalese Tatar Bashkir Includes individuals who either self-report or have been described by authors as Aboriginal Australian of Martu ancestry. The Martu Australian Aboriginal people are from the Western Desert region located across the Pilbara in Western Australia Mardu Aboriginal Australian Mardu Australian Aboriginal Martu Aboriginal Australian PMID:27070114 Martu Australian Aboriginal Jewish Israeli Punjabi Sikh American of European ancestry European American The Esan people are one of the major ethnic groups in Edo State, Nigeria who speak the Esan language. (PMID:10146569) Samples from this population were studied as part of the full 1000 Genomes project (https://www.coriell.org/1/NHGRI/Collections/1000-Genomes-Collections/Esan-in-Nigeria-ESN) Esan The Luhya are the second-largest ethnic group in Kenya and are comprised of subgroups that speak a common Bantu language. (PMID: 27813082) The Luhya ancestry group was assembled as part of phase III of the HapMap project and used in a number of rare variant density studies (PMID:22373165, PMID:26673965) Luhya The Maasai are an indigenous African ethnic group of semi-nomadic people located in northern Tanzania and Kenya. (PMID:29868928) The Maasai ancestry group was assembled as part of phase III of the HapMap project and used as reference in a range of population genetic studies (PMID:28049708). Maasai The Mende people are one of the largest ethnic groups in Sierra Leone who speak a language of the Mande branch of the Niger-Congo family. (PMID:15761855) Samples from this population were studied as part of the full 1000 Genomes project (https://www.coriell.org/1/NHGRI/Collections/1000-Genomes-Collections/Mende-in-Sierra-Leone-MSL) Mende Native people residing in the Arctic of Alaska, northern Canada, Greenland, or eastern Siberia PMID:25884279 PMID:29220501 Class previously labelled as "Eskimo", which is outdated and culturally inappropriate. Outdated label may be added as an appropriately flagged synonym at a later stage. Inuit Includes individuals with ethnic origins in the Semitic people populating the Arabian Peninsula and other countries in the Middle East and Northern Africa PMID:27393651 PMID:28106113 Arab Includes individuals who either self-report or have been described by authors as Singaporean Malay. PMID:19700652 PMID:31626772 Singaporean Malay Includes individuals who either self-report or have been described by authors as Singaporean Indian. PMID:19700652 PMID:31626772 Singaporean Indian An ethnicity descriptor is descriptor that qualifies a population term as relating to a social, cultural, reglious or tribal group ethnicity descriptor A geographic descriptor is descriptor that qualifies a population term as relating to a geographic location geographic descriptor Population category defined in terms of cultural, religious, tribal or other social similarities ethnic group ethnicity category Population category defined in relation to a geographic location geographic category Country obsolete_Punjabi Sikh true