diff --git a/ExFactor Ontology release notes.txt b/ExFactor Ontology release notes.txt
index e2f63513..47cea13c 100644
--- a/ExFactor Ontology release notes.txt
+++ b/ExFactor Ontology release notes.txt
@@ -10,23 +10,17 @@
\::/ / \:\__\ \::/ /
\/__/ \/__/ \/__/
EFO - Release Notes
-ArrayExpress Experimental Factor Ontology version 2.100
-Date Released: 17th September 2018
-Class Count: 22047
+Experimental Factor Ontology version 2.101
+Date Released: 15th October 2018
+Class Count: 22126
Summary:
-***!!!***
-
-IMPORTANT NOTICE - We have moved to Github. From EFO 2.90 on, all our files will be released from Github - https://github.com/EBISPOT/efo. The transition should be seamless once we have everything ready for 2.90 release in November 2017. This release note is now available from https://github.com/EBISPOT/efo/blob/master/ExFactor%20Ontology%20release%20notes.txt .
-
-***!!!***
-
-EFO 2.100 contains continued work on the disease classifications from 2.99, as well as new experimental process and measurement terms to address project-specific use cases for the Human Cell Atlas and GWAS Catalog, respectively; please see the details below for the full log of change.
+EFO 2.101 contains continued work on the disease classifications from 2.100 in preparation for the EFO 3.0 Beta release. The ethnicity branch has been replaced with the new ancestry branch, with imported terms from HANCESTRO replacing old EFO terms. New experimental process and measurement terms have also been added to address project-specific use cases for the Human Cell Atlas and GWAS Catalog, respectively; please see the details below for the full log of change.
----------------------------------
-1. Changes to URIs
+1. Changes to URIs
2. Changes to EFO
3. Obsolete Classes in EFO
4. Scope of the Ontology
@@ -40,165 +34,881 @@ EFO 2.100 contains continued work on the disease classifications from 2.99, as w
New classes:
-Class: http://www.ebi.ac.uk/efo/EFO_0009320
-Label: RUES2
-+ 'RUES2' SubClassOf 'derives_from' some ('embryonic cell line' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens'))))
-+ 'RUES2' SubClassOf 'has_quality' some 'female'
-+ 'RUES2' SubClassOf 'cultured cell'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009321
-Label: diabetic macular edema
-+ 'diabetic macular edema' SubClassOf 'diabetic retinopathy'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009322
-Label: proliferative diabetic retinopathy
-+ 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009323
-Label: alpha synuclein measurement
-+ 'alpha synuclein measurement' SubClassOf 'is_about' some 'neurodegenerative disease'
-+ 'alpha synuclein measurement' SubClassOf 'protein measurement'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009324
-Label: APOL1 risk genotype carrier status
-+ 'APOL1 risk genotype carrier status' SubClassOf 'carrier status'
-+ 'APOL1 risk genotype carrier status' SubClassOf 'is_about' some 'chronic kidney disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009325
-Label: basal ganglia growth measurement
-+ 'basal ganglia growth measurement' SubClassOf 'brain growth measurement'
-+ 'basal ganglia growth measurement' SubClassOf 'is_about' some 'brain development'
-+ 'basal ganglia growth measurement' SubClassOf 'is_about' some 'basal ganglion'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009326
-Label: brain growth measurement
-+ 'brain growth measurement' SubClassOf 'measurement'
-+ 'brain growth measurement' SubClassOf 'is_about' some 'brain'
-+ 'brain growth measurement' SubClassOf 'is_about' some 'brain development'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009327
-Label: cerebellum growth measurement
-+ 'cerebellum growth measurement' SubClassOf 'is_about' some 'brain development'
-+ 'cerebellum growth measurement' SubClassOf 'brain growth measurement'
-+ 'cerebellum growth measurement' SubClassOf 'is_about' some 'cerebellum'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009328
-Label: cerebral cortex growth measurement
-+ 'cerebral cortex growth measurement' SubClassOf 'brain growth measurement'
-+ 'cerebral cortex growth measurement' SubClassOf 'is_about' some 'cerebral cortex'
-+ 'cerebral cortex growth measurement' SubClassOf 'is_about' some 'brain development'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009314
-Label: blood coagulation disease
-+ 'blood coagulation disease' SubClassOf 'hematological system disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009315
-Label: thrombophilia
-+ 'thrombophilia' SubClassOf 'blood coagulation disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009312
-Label: proprotein convertase subtilisin/kexin type 9 measurement
-+ 'proprotein convertase subtilisin/kexin type 9 measurement' SubClassOf 'measurement'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009313
-Label: Linear IgA Dermatosis
-+ 'Linear IgA Dermatosis' SubClassOf 'autoimmune bullous skin disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009318
-Label: HFFc6
-+ 'HFFc6' SubClassOf 'cultured cell'
-+ 'HFFc6' SubClassOf 'derives_from' some ('fibroblast derived cell line' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens'))))
-+ 'HFFc6' SubClassOf 'has_quality' some 'male'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009319
-Label: F123-CASTx129
-+ 'F123-CASTx129' SubClassOf 'derives_from' some ('mouse embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus'))))
-+ 'F123-CASTx129' SubClassOf 'has_quality' some 'male'
-+ 'F123-CASTx129' SubClassOf 'cultured cell'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009316
-Label: protein c deficiency
-+ 'protein c deficiency' SubClassOf 'thrombophilia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009317
-Label: GM20431
-+ 'GM20431' SubClassOf 'has_quality' some 'male'
-+ 'GM20431' SubClassOf 'cultured cell'
-+ 'GM20431' SubClassOf 'derives_from' some ('lymphoblastoid cell line' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens'))))
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009335
-Label: white matter growth measurement
-+ 'white matter growth measurement' SubClassOf 'is_about' some 'brain development'
-+ 'white matter growth measurement' SubClassOf 'brain growth measurement'
-+ 'white matter growth measurement' SubClassOf 'is_about' some 'brain'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009334
-Label: prefrontal cortex growth measurement
-+ 'prefrontal cortex growth measurement' SubClassOf 'is_about' some 'brain development'
-+ 'prefrontal cortex growth measurement' SubClassOf 'brain growth measurement'
-+ 'prefrontal cortex growth measurement' SubClassOf 'is_about' some 'prefrontal cortex'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009336
-Label: velopharyngeal dysfunction
-+ 'velopharyngeal dysfunction' SubClassOf 'abnormality of the mouth'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009331
-Label: erosive tooth wear measurement
-+ 'erosive tooth wear measurement' SubClassOf 'measurement'
-+ 'erosive tooth wear measurement' SubClassOf 'is_about' some 'tooth'
-+ 'erosive tooth wear measurement' SubClassOf 'is_about' some 'tooth disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009330
-Label: Chlamydia trachomatis seropositivity
-+ 'Chlamydia trachomatis seropositivity' SubClassOf 'infectious disease biomarker'
-+ 'Chlamydia trachomatis seropositivity' SubClassOf 'seropositivity measurement'
-+ 'Chlamydia trachomatis seropositivity' SubClassOf 'is_about' some 'Chlamydia trachomatis infectious disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009332
-Label: executive function measurement
-+ 'executive function measurement' SubClassOf 'is_about' some 'unipolar depression'
-+ 'executive function measurement' SubClassOf 'is_about' some 'bipolar disorder'
-+ 'executive function measurement' SubClassOf 'is_about' some 'attention deficit hyperactivity disorder'
-+ 'executive function measurement' SubClassOf 'is_about' some 'schizophrenia'
-+ 'executive function measurement' SubClassOf 'is_about' some 'autism'
-+ 'executive function measurement' SubClassOf 'is_about' some 'anxiety disorder'
-+ 'executive function measurement' SubClassOf 'is_about' some 'brain'
-+ 'executive function measurement' SubClassOf 'is_about' some 'executive function'
-+ 'executive function measurement' SubClassOf 'mental or behavioural disorder biomarker'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009278
-Label: cranial vault morphology measurement
-+ 'cranial vault morphology measurement' SubClassOf 'is_about' some 'head'
-+ 'cranial vault morphology measurement' SubClassOf 'measurement'
-
-Class: http://purl.obolibrary.org/obo/HP_0000975
-Label: hyperhidrosis
-+ 'hyperhidrosis' SubClassOf 'phenotype'
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0568
+Label: African American
++ 'African American' SubClassOf 'African American or Afro-Caribbean'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0575
+Label: Yoruban
++ 'Yoruban' SubClassOf 'Sub-Saharan African'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0574
+Label: Pacific Islander
++ 'Pacific Islander' SubClassOf 'Oceanian'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0573
+Label: Native Hawaiian
++ 'Native Hawaiian' SubClassOf 'Oceanian'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0570
+Label: Pima Indian
++ 'Pima Indian' SubClassOf 'Native American'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0383
+Label: Irish
++ 'Irish' SubClassOf 'isDemonymOf' some 'Republic of Ireland'
++ 'Irish' SubClassOf 'European'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0498
+Label: Filipino
++ 'Filipino' SubClassOf 'isDemonymOf' some 'Philippines'
++ 'Filipino' SubClassOf 'Asian'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0487
+Label: Indian
++ 'Indian' SubClassOf 'South Asian'
++ 'Indian' SubClassOf 'isDemonymOf' some 'India'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0463
+Label: American
++ 'American' SubClassOf 'isDemonymOf' some 'United States'
++ 'American' SubClassOf 'European'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0462
+Label: British
++ 'British' SubClassOf 'isDemonymOf' some 'United Kingdom'
++ 'British' SubClassOf 'European'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0438
+Label: Iranian
++ 'Iranian' SubClassOf 'isDemonymOf' some 'Iran'
++ 'Iranian' SubClassOf 'Greater Middle Eastern (Middle Eastern, North African or Persian)'
+
+Class: http://dbpedia.org/resource/South_Korea
+Label: South Korea
++ 'South Korea' SubClassOf 'country'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0290
+Label: genetically isolated population
++ 'genetically isolated population' SubClassOf 'ancestry group'
++ 'genetically isolated population' EquivalentTo 'hasAncestryStatus' only 'genetically isolated ancestry'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0304
+Label: ancestry status
++ 'ancestry status' EquivalentTo 'genetically isolated ancestry' or 'admixed ancestry'
++ 'ancestry status' SubClassOf 'quality'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0305
+Label: genetically isolated ancestry
++ 'genetically isolated ancestry' SubClassOf 'ancestry status'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0306
+Label: admixed ancestry
++ 'admixed ancestry' SubClassOf 'ancestry status'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0015
+Label: Greater Middle Eastern (Middle Eastern, North African or Persian)
++ 'Greater Middle Eastern (Middle Eastern, North African or Persian)' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0014
+Label: Hispanic or Latin American
++ 'Hispanic or Latin American' SubClassOf 'hasAncestryStatus' some 'admixed ancestry'
++ 'Hispanic or Latin American' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0013
+Label: Native American
++ 'Native American' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0011
+Label: Sub-Saharan African
++ 'Sub-Saharan African' SubClassOf 'African'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0010
+Label: African
++ 'African' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0019
+Label: Japanese
++ 'Japanese' SubClassOf 'East Asian'
++ 'Japanese' SubClassOf 'isDemonymOf' some 'Japan'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0016
+Label: African American or Afro-Caribbean
++ 'African American or Afro-Caribbean' SubClassOf 'hasAncestryStatus' some 'admixed ancestry'
++ 'African American or Afro-Caribbean' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0017
+Label: Oceanian
++ 'Oceanian' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0022
+Label: Korean
++ 'Korean' SubClassOf 'East Asian'
++ 'Korean' SubClassOf 'isDemonymOf' some 'South Korea'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0021
+Label: Chinese
++ 'Chinese' SubClassOf 'isDemonymOf' some 'China'
++ 'Chinese' SubClassOf 'East Asian'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0027
+Label: Han Chinese
++ 'Han Chinese' SubClassOf 'Chinese'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0004
+Label: ancestry group
+Label: ancestry category
++ 'ancestry group' SubClassOf 'population'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0003
+Label: country
++ 'country' SubClassOf 'organization'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0005
+Label: European
++ 'European' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0006
+Label: South Asian
++ 'South Asian' SubClassOf 'Asian'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0008
+Label: Asian
++ 'Asian' SubClassOf 'ancestry group'
+
+Class: http://purl.obolibrary.org/obo/HANCESTRO_0009
+Label: East Asian
++ 'East Asian' SubClassOf 'Asian'
+
+Class: http://dbpedia.org/resource/United_Kingdom
+Label: United Kingdom
++ 'United Kingdom' SubClassOf 'country'
+
+Class: http://dbpedia.org/resource/Japan
+Label: Japan
++ 'Japan' SubClassOf 'country'
+
+Class: http://dbpedia.org/resource/Philippines
+Label: Philippines
++ 'Philippines' SubClassOf 'country'
+
+Class: http://dbpedia.org/resource/Iran
+Label: Iran
++ 'Iran' SubClassOf 'country'
+
+Class: http://purl.obolibrary.org/obo/HP_0010750
+Label: dermatochalasis
++ 'dermatochalasis' SubClassOf 'Abnormality of the head'
+
+Class: http://dbpedia.org/resource/United_States
+Label: United States
++ 'United States' SubClassOf 'country'
+
+Class: http://dbpedia.org/resource/India
+Label: India
++ 'India' SubClassOf 'country'
+
+Class: http://dbpedia.org/resource/Republic_of_Ireland
+Label: Republic of Ireland
++ 'Republic of Ireland' SubClassOf 'country'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009350
+Label: Anti-herpes simplex virus 2 IgG measurement
++ 'Anti-herpes simplex virus 2 IgG measurement' SubClassOf 'is_about' some 'Herpes simplex infection'
++ 'Anti-herpes simplex virus 2 IgG measurement' SubClassOf 'serum IgG measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009351
+Label: Anti-varicella zoster virus IgG measurement
++ 'Anti-varicella zoster virus IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-varicella zoster virus IgG measurement' SubClassOf 'is_about' some 'Varicella Zoster infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009349
+Label: Anti-herpes simplex virus 1 IgG measurement
++ 'Anti-herpes simplex virus 1 IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-herpes simplex virus 1 IgG measurement' SubClassOf 'is_about' some 'Herpes simplex infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009348
+Label: Anti-Epstein-Barr virus early antigen IgG measurement
++ 'Anti-Epstein-Barr virus early antigen IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-Epstein-Barr virus early antigen IgG measurement' SubClassOf 'is_about' some 'Epstein-Barr virus infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009347
+Label: Anti-cytomegalovirus IgG measurement
++ 'Anti-cytomegalovirus IgG measurement' SubClassOf 'is_about' some 'cytomegalovirus infection'
++ 'Anti-cytomegalovirus IgG measurement' SubClassOf 'serum IgG measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009346
+Label: Hepatitis B virus core antigen seropositivity
++ 'Hepatitis B virus core antigen seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Hepatitis B virus core antigen seropositivity' SubClassOf 'is_about' some 'hepatitis B infection'
++ 'Hepatitis B virus core antigen seropositivity' SubClassOf 'seropositivity measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009345
+Label: Hepatitis B virus surface antigen seropositivity
++ 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'seropositivity measurement'
++ 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'is_about' some 'hepatitis B infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009344
+Label: Rubella virus seropositivity
++ 'Rubella virus seropositivity' SubClassOf 'is_about' some 'rubella'
++ 'Rubella virus seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Rubella virus seropositivity' SubClassOf 'seropositivity measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009343
+Label: Mumps virus seropositivity
++ 'Mumps virus seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Mumps virus seropositivity' SubClassOf 'is_about' some 'Mumps virus infectious disease'
++ 'Mumps virus seropositivity' SubClassOf 'seropositivity measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009342
+Label: Measles virus seropositivity
++ 'Measles virus seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Measles virus seropositivity' SubClassOf 'is_about' some 'measles'
++ 'Measles virus seropositivity' SubClassOf 'seropositivity measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009341
+Label: Helicobacter pylori seropositivity
++ 'Helicobacter pylori seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Helicobacter pylori seropositivity' SubClassOf 'is_about' some 'Helicobacter pylori infectious disease'
++ 'Helicobacter pylori seropositivity' SubClassOf 'seropositivity measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009340
+Label: Varicella zoster virus seropositivity
++ 'Varicella zoster virus seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Varicella zoster virus seropositivity' SubClassOf 'seropositivity measurement'
++ 'Varicella zoster virus seropositivity' SubClassOf 'is_about' some 'Varicella Zoster infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009339
+Label: Herpes simplex virus 2 seropositivity
++ 'Herpes simplex virus 2 seropositivity' SubClassOf 'infectious disease biomarker'
++ 'Herpes simplex virus 2 seropositivity' SubClassOf 'is_about' some 'Herpes simplex infection'
++ 'Herpes simplex virus 2 seropositivity' SubClassOf 'seropositivity measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009338
+Label: Epstein-Barr virus early antigen seropositivity
++ 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'is_about' some 'Epstein-Barr virus infection'
++ 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'seropositivity measurement'
++ 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'infectious disease biomarker'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009337
+Label: cell size selection
++ 'cell size selection' SubClassOf 'sample enrichment'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009372
+Label: response to ketogenic diet
++ 'response to ketogenic diet' SubClassOf 'response to dietary antigen'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009373
+Label: edema
++ 'edema' SubClassOf 'skin disease'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009370
+Label: radon exposure measurement
++ 'radon exposure measurement' SubClassOf 'environmental exposure measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009371
+Label: ketogenic diet
++ 'ketogenic diet' SubClassOf 'diet'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009366
+Label: quality of life during menstruation measurement
++ 'quality of life during menstruation measurement' SubClassOf 'measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009365
+Label: vaginal discharge
++ 'vaginal discharge' SubClassOf 'vaginal inflammation'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009364
+Label: non-allergic rhinitis
++ 'non-allergic rhinitis' SubClassOf 'rhinitis'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009363
+Label: chronic central serous retinopathy
++ 'chronic central serous retinopathy' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye'))
++ 'chronic central serous retinopathy' SubClassOf 'retinopathy'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009369
+Label: diffusing capacity of the lung for carbon monoxide
++ 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'pulmonary function measurement'
++ 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'chronic obstructive pulmonary disease'
++ 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'lung'
++ 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'interstitial lung disease'
++ 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'asthma'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009368
+Label: factor VII activating protease measurement
++ 'factor VII activating protease measurement' SubClassOf 'blood protein measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009367
+Label: glucose metabolism measurement
++ 'glucose metabolism measurement' SubClassOf 'Alzheimer's disease biomarker measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009360
+Label: eyelid sagging measurement
++ 'eyelid sagging measurement' SubClassOf 'is_about' some 'dermatochalasis'
++ 'eyelid sagging measurement' SubClassOf 'facial morphology measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009361
+Label: colorectal mucinous adenocarcinoma
++ 'colorectal mucinous adenocarcinoma' SubClassOf 'colorectal adenocarcinoma'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009362
+Label: nicotine withdrawal measurement
++ 'nicotine withdrawal measurement' SubClassOf 'measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009353
+Label: Anti-Toxoplasma gondii IgG measurement
++ 'Anti-Toxoplasma gondii IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-Toxoplasma gondii IgG measurement' SubClassOf 'is_about' some 'toxoplasmosis'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009352
+Label: Anti-Helicobacter pylori IgG measurement
++ 'Anti-Helicobacter pylori IgG measurement' SubClassOf 'is_about' some 'Helicobacter pylori infectious disease'
++ 'Anti-Helicobacter pylori IgG measurement' SubClassOf 'serum IgG measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009355
+Label: Anti-measles virus IgG measurement
++ 'Anti-measles virus IgG measurement' SubClassOf 'is_about' some 'measles'
++ 'Anti-measles virus IgG measurement' SubClassOf 'serum IgG measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009354
+Label: Anti-influenza A virus IgG measurement
++ 'Anti-influenza A virus IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-influenza A virus IgG measurement' SubClassOf 'is_about' some 'influenza infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009357
+Label: Anti-rubella virus IgG measurement
++ 'Anti-rubella virus IgG measurement' SubClassOf 'is_about' some 'rubella'
++ 'Anti-rubella virus IgG measurement' SubClassOf 'serum IgG measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009356
+Label: Anti-mumps virus IgG measurement
++ 'Anti-mumps virus IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-mumps virus IgG measurement' SubClassOf 'is_about' some 'Mumps virus infectious disease'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009359
+Label: Anti-hepatitis B virus core antigen IgG measurement
++ 'Anti-hepatitis B virus core antigen IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-hepatitis B virus core antigen IgG measurement' SubClassOf 'is_about' some 'hepatitis B infection'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009358
+Label: Anti-hepatitis B virus surface antigen IgG measurement
++ 'Anti-hepatitis B virus surface antigen IgG measurement' SubClassOf 'serum IgG measurement'
++ 'Anti-hepatitis B virus surface antigen IgG measurement' SubClassOf 'is_about' some 'hepatitis B infection'
+
+Class: http://dbpedia.org/resource/China
+Label: China
++ 'China' SubClassOf 'country'
----------------------------------
2. Changes to EFO
-Class: http://www.ebi.ac.uk/efo/EFO_0008796
-Label: MARS-seq
-+ 'MARS-seq' SubClassOf 'library preparation'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0008720
-Label: DroNc-Seq
-+ 'DroNc-Seq' SubClassOf 'library preparation'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000183
-Label: Hodgkins lymphoma
-- 'Hodgkins lymphoma' SubClassOf 'lymphoid neoplasm'
-
-Class: http://www.orpha.net/ORDO/Orphanet_217454
-Label: Rare hereditary thrombophilia
-+ 'Rare hereditary thrombophilia' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009315
-
-Class: http://www.ebi.ac.uk/efo/http://www.ebi.ac.uk/efo/EFO_0009278
-Label: cranial vault morphology measurement
-- 'cranial vault morphology measurement' SubClassOf 'is_about' some 'head'
-- 'cranial vault morphology measurement' SubClassOf 'measurement'
-
+Class: http://www.ebi.ac.uk/efo/EFO_0002184
+Label: H4
+- 'H4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('late embryo' and ('part_of' some 'Homo sapiens'))))
++ 'H4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens'))))
+
+Class: http://www.ebi.ac.uk/efo/EFO_0001075
+Label: ovarian carcinoma
++ 'ovarian carcinoma' SubClassOf 'Malignant epithelial tumor of ovary'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0002239
+Label: MOLT16
+- 'MOLT16' SubClassOf 'derives_from' some 'Caucasian'
++ 'MOLT16' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0002323
+Label: RWPE1
+- 'RWPE1' SubClassOf 'derives_from' some 'Caucasian'
++ 'RWPE1' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0002300
+Label: NCI-H69
+- 'NCI-H69' SubClassOf 'derives_from' some 'Caucasian'
++ 'NCI-H69' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0000197
+Label: mucinous carcinoma
+- 'mucinous carcinoma' SubClassOf 'carcinoma'
++ 'mucinous carcinoma' SubClassOf 'adenocarcinoma'
+
+Class: http://www.orpha.net/ORDO/Orphanet_77
+Label: Aniridia
+- 'Aniridia' SubClassOf 'Syndromic cataract'
+
+Class: http://www.orpha.net/ORDO/Orphanet_70
+Label: Proximal spinal muscular atrophy
++ 'Proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy'
+
+Class: http://www.orpha.net/ORDO/Orphanet_2416
+Label: Congenital primary lymphedema
+- 'Congenital primary lymphedema' SubClassOf 'Conjunctival lymphangiectasia'
+- 'Congenital primary lymphedema' SubClassOf 'Primary lymphedema'
++ 'Congenital primary lymphedema' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0002784
+Label: GM12878
+- 'GM12878' SubClassOf 'derives_from' some 'Northern and Western European'
++ 'GM12878' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0002852
+Label: RERF-LC-MS
+- 'RERF-LC-MS' SubClassOf 'derives_from' some 'Japanese'
++ 'RERF-LC-MS' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0019
+
+Class: http://www.ebi.ac.uk/efo/EFO_0002858
+Label: SK-ES-1
+- 'SK-ES-1' SubClassOf 'derives_from' some 'Caucasian'
++ 'SK-ES-1' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.orpha.net/ORDO/Orphanet_359
+Label: Hereditary glaucoma
+- 'Hereditary glaucoma' SubClassOf 'Non-syndromic developmental defect of the eye'
++ 'Hereditary glaucoma' SubClassOf 'Genetic developmental defect of the eye'
+
+Class: http://www.orpha.net/ORDO/Orphanet_646
+Label: Niemann-Pick disease type C
+- 'Niemann-Pick disease type C' SubClassOf 'Lipid storage disease'
++ 'Niemann-Pick disease type C' SubClassOf 'Sphingolipidosis'
+
+Class: http://www.orpha.net/ORDO/Orphanet_398934
+Label: Malignant epithelial tumor of ovary
+- 'Malignant epithelial tumor of ovary' SubClassOf 'ovarian carcinoma'
++ 'Malignant epithelial tumor of ovary' SubClassOf 'ovarian neoplasm'
+
+Class: http://www.orpha.net/ORDO/Orphanet_790
+Label: Retinoblastoma
+- 'Retinoblastoma' SubClassOf 'Genetic vitreous-retinal disease'
+- 'Retinoblastoma' SubClassOf 'Genetic eye tumor'
++ 'Retinoblastoma' SubClassOf 'retinopathy'
++ 'Retinoblastoma' SubClassOf 'neoplasm' and ('has_disease_location' some 'eye')
+
+Class: http://www.orpha.net/ORDO/Orphanet_206713
+Label: Distal spinal muscular atrophy
++ 'Distal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0000364
+Label: colon mucinous adenocarcinoma
+- 'colon mucinous adenocarcinoma' SubClassOf 'colorectal adenocarcinoma'
++ 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0004902
+Label: European HapMap cell line
+- 'European HapMap cell line' EquivalentTo ('is_input_of' some 'HapMap haplotype mapping') and ('derives_from' some 'Northern and Western European')
++ 'European HapMap cell line' EquivalentTo ('is_input_of' some 'HapMap haplotype mapping') and ('derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005)
+
+Class: http://www.ebi.ac.uk/efo/EFO_0004900
+Label: Yoruba
+- 'Yoruba' SubClassOf 'African'
++ 'Yoruba' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0004901
+Label: Northern and Western European
+- 'Northern and Western European' SubClassOf 'ethnic group'
++ 'Northern and Western European' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0007751
+Label: ES-E14TG2a.4
++ 'ES-E14TG2a.4' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_1000387
+Label: mucinuos carcinoma
+- 'mucinuos carcinoma' SubClassOf 'adenocarcinoma'
++ 'mucinuos carcinoma' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0004561
+Label: African
+- 'African' SubClassOf 'ethnic group'
++ 'African' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005698
+Label: Daoy
+- 'Daoy' SubClassOf 'derives_from' some 'Caucasian'
++ 'Daoy' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005694
+Label: KMS-11
+- 'KMS-11' SubClassOf 'derives_from' some 'Japanese'
++ 'KMS-11' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0019
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005726
+Label: LNCaP clone FGC
+- 'LNCaP clone FGC' SubClassOf 'part_of' some 'Caucasian'
++ 'LNCaP clone FGC' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005724
+Label: MM.1S
+- 'MM.1S' SubClassOf 'part_of' some 'African American'
++ 'MM.1S' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0568
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005723
+Label: GM23248
+- 'GM23248' SubClassOf 'part_of' some 'Caucasian'
++ 'GM23248' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005722
+Label: SJCRH30
+- 'SJCRH30' SubClassOf 'part_of' some 'Caucasian'
++ 'SJCRH30' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005721
+Label: SK-N-DZ
+- 'SK-N-DZ' SubClassOf 'part_of' some 'Caucasian'
++ 'SK-N-DZ' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005720
+Label: SK-MEL-5
+- 'SK-MEL-5' SubClassOf 'part_of' some 'Caucasian'
++ 'SK-MEL-5' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_1001204
+Label: sweat gland neoplasm
++ 'sweat gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'sweat gland')
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005712
+Label: RPMI-7951
+- 'RPMI-7951' SubClassOf 'part_of' some 'Caucasian'
++ 'RPMI-7951' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005715
+Label: WERI-Rb-1
+- 'WERI-Rb-1' SubClassOf 'part_of' some 'Caucasian'
++ 'WERI-Rb-1' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005714
+Label: LHCN-M2
+- 'LHCN-M2' SubClassOf 'part_of' some 'Caucasian'
++ 'LHCN-M2' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005704
+Label: HuH-7.5
+- 'HuH-7.5' SubClassOf 'part_of' some 'Japanese'
++ 'HuH-7.5' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0019
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005703
+Label: G401.6
+- 'G401.6' SubClassOf 'derives_from' some 'Caucasian'
++ 'G401.6' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005707
+Label: 786-0
+- '786-0' SubClassOf 'part_of' some 'Caucasian'
++ '786-0' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_1000065
+Label: Acinar Prostate Mucinous Adenocarcinoma
+- 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinuos carcinoma'
++ 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005904
+Label: H7-hESC
++ 'H7-hESC' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005901
+Label: ELF-1
++ 'ELF-1' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005916
+Label: ES-CJ7
++ 'ES-CJ7' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005915
+Label: WW6
++ 'WW6' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005914
+Label: ZHBTc4-mESC
++ 'ZHBTc4-mESC' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005910
+Label: ES-D3
++ 'ES-D3' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005237
+Label: U-87 MG
+- 'U-87 MG' SubClassOf 'has_quality' some 'Caucasian'
++ 'U-87 MG' SubClassOf 'has_quality' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005236
+Label: NT2/D1
+- 'NT2/D1' SubClassOf 'has_quality' some 'Caucasian'
++ 'NT2/D1' SubClassOf 'has_quality' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005234
+Label: PFSK-1
+- 'PFSK-1' SubClassOf 'has_quality' some 'Caucasian'
++ 'PFSK-1' SubClassOf 'has_quality' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005282
+Label: HS-5
+- 'HS-5' SubClassOf 'derives_from' some 'Caucasian'
++ 'HS-5' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005283
+Label: HS-27A
+- 'HS-27A' SubClassOf 'derives_from' some 'Caucasian'
++ 'HS-27A' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005353
+Label: GM12801
+- 'GM12801' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12801' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005352
+Label: GM20000
+- 'GM20000' SubClassOf 'derives_from' some ('Caucasian' and 'Hispanic')
++ 'GM20000' SubClassOf 'derives_from' some (http://purl.obolibrary.org/obo/HANCESTRO_0005 and http://purl.obolibrary.org/obo/HANCESTRO_0014)
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005351
+Label: GM19193
+- 'GM19193' SubClassOf 'derives_from' some 'Yoruba'
++ 'GM19193' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0575
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005350
+Label: GM19099
+- 'GM19099' SubClassOf 'derives_from' some 'Yoruba'
++ 'GM19099' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0575
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005333
+Label: GM08714
+- 'GM08714' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM08714' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005332
+Label: GM18505
+- 'GM18505' SubClassOf 'derives_from' some 'Yoruba'
++ 'GM18505' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0575
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005337
+Label: GM12864
+- 'GM12864' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12864' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005336
+Label: GM10847
+- 'GM10847' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM10847' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005335
+Label: GM10266
+- 'GM10266' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM10266' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005334
+Label: GM10248
+- 'GM10248' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM10248' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005339
+Label: GM12866
+- 'GM12866' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12866' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005338
+Label: GM12865
+- 'GM12865' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12865' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005340
+Label: GM12867
+- 'GM12867' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12867' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005342
+Label: GM12869
+- 'GM12869' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12869' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005341
+Label: GM12868
+- 'GM12868' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12868' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005344
+Label: GM12871
+- 'GM12871' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12871' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005343
+Label: GM12870
+- 'GM12870' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM12870' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005346
+Label: GM13977
+- 'GM13977' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM13977' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005345
+Label: GM13976
+- 'GM13976' SubClassOf 'derives_from' some 'Caucasian'
++ 'GM13976' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0005
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005348
+Label: GM18526
+- 'GM18526' SubClassOf 'derives_from' some 'Han Chinese'
++ 'GM18526' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0027
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005349
+Label: GM18951
+- 'GM18951' SubClassOf 'derives_from' some 'Japanese'
++ 'GM18951' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/HANCESTRO_0019
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005384
+Label: HuH-7
+- 'HuH-7' SubClassOf 'part_of' some 'Japanese'
++ 'HuH-7' SubClassOf 'part_of' some http://purl.obolibrary.org/obo/HANCESTRO_0019
+
+Class: http://www.ebi.ac.uk/efo/EFO_0005484
+Label: 46C
++ '46C' SubClassOf 'ESC derived cell line'
+
+Class: http://www.orpha.net/ORDO/Orphanet_79225
+Label: Sphingolipidosis
+- 'Sphingolipidosis' SubClassOf 'Lysosomal disease'
++ 'Sphingolipidosis' SubClassOf 'Lipid storage disease'
+
+Class: http://www.orpha.net/ORDO/Orphanet_79204
+Label: Lipid storage disease
+- 'Lipid storage disease' SubClassOf 'Sphingolipidosis'
++ 'Lipid storage disease' SubClassOf 'Lysosomal disease'
+
+Class: http://www.ebi.ac.uk/efo/EFO_1000912
+Label: eccrine acrospiroma
+- 'eccrine acrospiroma' SubClassOf 'eccrine sweat gland cancer'
++ 'eccrine acrospiroma' SubClassOf 'neoplasm' and ('has_disease_location' some 'eccrine sweat gland')
+
+Class: http://www.ebi.ac.uk/efo/EFO_0006275
+Label: ES-E14TG2a
++ 'ES-E14TG2a' SubClassOf 'ESC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_1000716
+Label: incontinentia pigmenti achromians
+- 'incontinentia pigmenti achromians' SubClassOf 'skin disease'
++ 'incontinentia pigmenti achromians' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_1000672
+Label: Bloch-Sulzberger syndrome
+- 'Bloch-Sulzberger syndrome' SubClassOf 'pigmentation disease'
++ 'Bloch-Sulzberger syndrome' SubClassOf 'obsolete class'
+
+Class: http://www.orpha.net/ORDO/Orphanet_79383
+Label: Lymphedema
+- 'Lymphedema' SubClassOf 'Rare genetic skin disease'
++ 'Lymphedema' SubClassOf 'skin disease'
+
+Class: http://www.orpha.net/ORDO/Orphanet_79450
+Label: Non hereditary congenital primary lymphedema
+- 'Non hereditary congenital primary lymphedema' SubClassOf 'Congenital primary lymphedema'
++ 'Non hereditary congenital primary lymphedema' SubClassOf 'obsolete class'
+
+Class: http://www.orpha.net/ORDO/Orphanet_79452
+Label: Milroy disease
+- 'Milroy disease' SubClassOf 'Congenital primary lymphedema'
++ 'Milroy disease' SubClassOf 'Conjunctival lymphangiectasia'
++ 'Milroy disease' SubClassOf 'Primary lymphedema'
++ 'Milroy disease' SubClassOf 'Milroy disease'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003151
+Label: American
+- 'American' SubClassOf 'ethnic group'
++ 'American' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003150
+Label: African American
+- 'African American' SubClassOf 'ethnic group'
++ 'African American' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003153
+Label: Asian Indian
+- 'Asian Indian' SubClassOf 'ethnic group'
++ 'Asian Indian' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003152
+Label: Asian
+- 'Asian' SubClassOf 'ethnic group'
++ 'Asian' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003155
+Label: British
+- 'British' SubClassOf 'ethnic group'
++ 'British' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003154
+Label: Asian/Pacific Islander
+- 'Asian/Pacific Islander' SubClassOf 'ethnic group'
++ 'Asian/Pacific Islander' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003157
+Label: Chinese
+- 'Chinese' SubClassOf 'ethnic group'
++ 'Chinese' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003156
+Label: Caucasian
+- 'Caucasian' SubClassOf 'ethnic group'
++ 'Caucasian' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003159
+Label: European-American
+- 'European-American' SubClassOf 'ethnic group'
++ 'European-American' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003158
+Label: Eastern Indian
+- 'Eastern Indian' SubClassOf 'ethnic group'
++ 'Eastern Indian' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003162
+Label: Iranian
+- 'Iranian' SubClassOf 'ethnic group'
++ 'Iranian' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003161
+Label: Han Chinese
+- 'Han Chinese' SubClassOf 'Chinese'
++ 'Han Chinese' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003160
+Label: Filipino
+- 'Filipino' SubClassOf 'Asian'
++ 'Filipino' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003166
+Label: Latino
+- 'Latino' SubClassOf 'ethnic group'
++ 'Latino' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003165
+Label: Korean
+- 'Korean' SubClassOf 'Asian'
++ 'Korean' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003164
+Label: Japanese
+- 'Japanese' SubClassOf 'Asian'
++ 'Japanese' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003163
+Label: Irish
+- 'Irish' SubClassOf 'ethnic group'
++ 'Irish' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003169
+Label: Hispanic
+- 'Hispanic' SubClassOf 'ethnic group'
++ 'Hispanic' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003168
+Label: Hawaiian
+- 'Hawaiian' SubClassOf 'ethnic group'
++ 'Hawaiian' SubClassOf 'obsolete class'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003167
+Label: Pima Indian
+- 'Pima Indian' SubClassOf 'ethnic group'
++ 'Pima Indian' SubClassOf 'obsolete class'
----------------------------------
3. Obsolete Classes
diff --git a/efo.obo b/efo.obo
index d0a54fd2..66f8c8d5 100644
--- a/efo.obo
+++ b/efo.obo
@@ -1,6 +1,6 @@
format-version: 1.2
-data-version: 2.100
-date: 17:09:2018 10:12
+data-version: 2.101
+date: 15:10:2018 10:51
subsetdef: abnormal_slim "abnormal slim"
subsetdef: attribute_slim "attribute slim"
subsetdef: cur "cur"
@@ -38800,9 +38800,10 @@ synonym: "mucous carcinoma" EXACT []
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:3030 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C26712 xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:72495009 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0007130 xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:0000313 ! carcinoma
+is_a: EFO:0000228 ! adenocarcinoma
[Term]
id: EFO:0000198
@@ -43925,7 +43926,7 @@ property_value: bioportal:provenance "Mucinous Colon Adenocarcinoma[accessedReso
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:3029 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C7966 xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
-is_a: EFO:0000365 ! colorectal adenocarcinoma
+is_a: EFO:1001949 ! colon adenocarcinoma
[Term]
id: EFO:0000365
@@ -60774,7 +60775,7 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:167000 xs
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
is_a: EFO:0000313 ! carcinoma
-is_a: EFO:0003893 ! ovarian neoplasm
+is_a: Orphanet:398934 ! Malignant epithelial tumor of ovary
[Term]
id: EFO:0001076
@@ -69254,11 +69255,12 @@ is_a: EFO:0002937 ! lymphoma or leukaemia cell line
[Term]
id: EFO:0002184
name: H4
+def: "A cell line of epithelial morphology derived from adult human brain." []
+property_value: definition:citation https://www.atcc.org/products/all/HTB-148.aspx#generalinformation xsd:string
property_value: IAO:0000117 "Ele Holloway" xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
-is_a: EFO:0003040 ! embryonic cell line
[Term]
id: EFO:0002185
@@ -78382,7 +78384,7 @@ is_a: EFO:0003146 ! symptomatic heart failure
[Term]
id: EFO:0003150
-name: African American
+name: obsolete_African American
def: "A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []
synonym: "Afro American" EXACT []
synonym: "Black" EXACT []
@@ -78394,32 +78396,44 @@ property_value: bioportal:provenance "BLACK OR AFRICAN AMERICAN[accessedResource
property_value: bioportal:provenance "Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C16352 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:15086000 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0568
[Term]
id: EFO:0003151
-name: American
+name: obsolete_American
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0596070 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0463
[Term]
id: EFO:0003152
-name: Asian
+name: obsolete_Asian
def: "Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []
synonym: "Asians" EXACT []
property_value: bioportal:provenance "Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41260 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Jie Zheng" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0008
[Term]
id: EFO:0003153
-name: Asian Indian
+name: obsolete_Asian Indian
def: "In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []
synonym: "Asian Indians" EXACT []
synonym: "Hindu" EXACT []
@@ -78428,31 +78442,43 @@ property_value: bioportal:provenance "Asian Indians[accessedResource: NCIt:C4126
property_value: bioportal:provenance "In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41262 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414481008 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0487
[Term]
id: EFO:0003154
-name: Asian/Pacific Islander
+name: obsolete_Asian/Pacific Islander
def: "Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []
synonym: "Native Hawaiian or Other Pacific Islander" EXACT []
property_value: bioportal:provenance "Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41219 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0574
[Term]
id: EFO:0003155
-name: British
+name: obsolete_British
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0596227 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0462
[Term]
id: EFO:0003156
-name: Caucasian
+name: obsolete_Caucasian
def: "Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []
synonym: "Caucasians" EXACT []
synonym: "Caucasoid" EXACT []
@@ -78469,97 +78495,137 @@ property_value: bioportal:provenance "Whites[accessedResource: NCIt:C41261][acce
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41261 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43851 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C48325 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:14045001 xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:413773004 xsd:string
property_value: IAO:0000117 "Jie Zheng" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005
[Term]
id: EFO:0003157
-name: Chinese
+name: obsolete_Chinese
def: "Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43391 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:33897005 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0021
[Term]
id: EFO:0003158
-name: Eastern Indian
+name: obsolete_Eastern Indian
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Ele Holloway" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0487
[Term]
id: EFO:0003159
-name: European-American
+name: obsolete_European-American
property_value: definition:citation http://en.wikipedia.org/wiki/European_American xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005
[Term]
id: EFO:0003160
-name: Filipino
+name: obsolete_Filipino
def: "Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43393 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003152 ! Asian
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0498
[Term]
id: EFO:0003161
-name: Han Chinese
+name: obsolete_Han Chinese
def: "Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []
synonym: "CHB" EXACT []
synonym: "Han People" EXACT []
property_value: definition:citation http://en.wikipedia.org/wiki/Han_Chinese xsd:string
property_value: definition:citation http://en.wikipedia.org/wiki/Han_Chinese xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Han Chinese" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003157 ! Chinese
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0027
[Term]
id: EFO:0003162
-name: Iranian
+name: obsolete_Iranian
def: "Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43869 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0438
[Term]
id: EFO:0003163
-name: Irish
+name: obsolete_Irish
def: "Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43856 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0383
[Term]
id: EFO:0003164
-name: Japanese
+name: obsolete_Japanese
def: "Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []
synonym: "JPT" EXACT []
property_value: bioportal:provenance "Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43392 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414551003 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003152 ! Asian
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0019
[Term]
id: EFO:0003165
-name: Korean
+name: obsolete_Korean
def: "Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43395 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003152 ! Asian
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0022
[Term]
id: EFO:0003166
-name: Latino
+name: obsolete_Latino
def: "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []
synonym: "Hispanic" EXACT []
synonym: "Hispanic or Latino" EXACT []
@@ -78575,33 +78641,45 @@ property_value: bioportal:provenance "Hispanics or Latinos[accessedResource: NCI
property_value: bioportal:provenance "Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C17459 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414408004 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0014
[Term]
id: EFO:0003167
-name: Pima Indian
+name: obsolete_Pima Indian
synonym: "Pima" EXACT []
property_value: bioportal:provenance "Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C44085 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0570
[Term]
id: EFO:0003168
-name: Hawaiian
+name: obsolete_Hawaiian
def: "Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []
synonym: "Native Hawaiian" EXACT []
property_value: bioportal:provenance "Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43394 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0573
[Term]
id: EFO:0003169
-name: Hispanic
+name: obsolete_Hispanic
def: "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []
comment: Tomasz Adamusiak
synonym: "Hispanic or Latino" EXACT []
@@ -78616,9 +78694,13 @@ property_value: bioportal:provenance "Hispanics or Latinos[accessedResource: NCI
property_value: bioportal:provenance "Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C17459 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414408004 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0014
[Term]
id: EFO:0003172
@@ -95220,11 +95302,15 @@ is_a: EFO:0001444 ! measurement
[Term]
id: EFO:0004561
-name: African
+name: obsolete_African
def: "Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C42331 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Helen Parkinson" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0010
[Term]
id: EFO:0004562
@@ -98086,21 +98172,29 @@ is_a: EFO:0000618 ! nervous system disease
[Term]
id: EFO:0004900
-name: Yoruba
+name: obsolete_Yoruba
def: "The Yoruba people are one of the largest ethnic groups in West Africa." []
synonym: "YRI" EXACT []
property_value: definition:citation http://en.wikipedia.org/wiki/Yoruba_people xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:440659006 xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
-is_a: EFO:0004561 ! African
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0575
[Term]
id: EFO:0004901
-name: Northern and Western European
+name: obsolete_Northern and Western European
def: "Population of northern and western European ancestry." []
synonym: "CEU" EXACT []
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005
[Term]
id: EFO:0004902
@@ -102416,9 +102510,10 @@ is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005484
name: 46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
-def: "46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []
+def: "46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005485
@@ -105889,6 +105984,7 @@ property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005903
@@ -105915,6 +106011,7 @@ property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005905
@@ -105985,6 +106082,7 @@ property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005912
@@ -106021,6 +106119,7 @@ property_value: definition:citation PMCID:PMC2259027 xsd:string
property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005915
@@ -106031,6 +106130,7 @@ property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:7638196 x
property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005916
@@ -106042,6 +106142,7 @@ property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:8224839 x
property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0005917
@@ -106362,6 +106463,7 @@ property_value: definition:citation http://www.lgcstandards-atcc.org/products/al
property_value: http://www.ebi.ac.uk/efo/ATCC_definition_citation ATCC:CRL-1821 xsd:string
property_value: IAO:0000117 "Laura Huerta" xsd:string
is_a: EFO:0002922 ! normal cell line
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0006276
@@ -121002,7 +121104,7 @@ name: ES-E14TG2a.4
def: "Feeder free cell line derived from E14TG2a." []
synonym: "E14TG2a.4" EXACT []
property_value: definition:citation https://www.mmrrc.org/catalog/cellLineSDS.php?mmrrc_id=15890 xsd:string
-is_a: CL:0000010 ! cultured cell
+is_a: EFO:0005738 ! ESC derived cell line
[Term]
id: EFO:0007752
@@ -130398,8 +130500,9 @@ is_a: EFO:0001456 ! DNA assay
[Term]
id: EFO:0008834
-name: Nuc-seq
+name: nucleosome sequencing
def: "Micrococcal nuclease mapping of nucleosomes (Nuc-seq)" []
+synonym: "Nuc-seq" EXACT []
property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:20512117 xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
is_a: EFO:0001456 ! DNA assay
@@ -130751,8 +130854,9 @@ is_a: OBI:0000711 ! library preparation
[Term]
id: EFO:0008878
-name: RAD
+name: restriction-site associated DNA sequencing
def: "Restriction-site associated DNA (RAD) marker generation" []
+synonym: "RAD" EXACT []
property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:18852878 xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
is_a: EFO:0001456 ! DNA assay
@@ -135135,6 +135239,377 @@ property_value: gwas:trait "true" xsd:boolean
property_value: IAO:0000117 "Joannella Morales" xsd:string
is_a: HP:0000153 ! abnormality of the mouth
+[Term]
+id: EFO:0009337
+name: cell size selection
+def: "filtering process that either includes or excludes cells of a certain diameter using a physical filter" []
+property_value: IAO:0000117 "Dani Welter" xsd:string
+is_a: EFO:0009106 ! sample enrichment
+
+[Term]
+id: EFO:0009338
+name: Epstein-Barr virus early antigen seropositivity
+def: "The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies" []
+synonym: "EBV-EA seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009339
+name: Herpes simplex virus 2 seropositivity
+def: "The result of a measurement of circulating Herpes simplex virus 2-specific antibodies" []
+synonym: "HSV2 seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009340
+name: Varicella zoster virus seropositivity
+def: "The result of a measurement of circulating Varicella zoster virus-specific antibodies" []
+synonym: "VZV seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009341
+name: Helicobacter pylori seropositivity
+def: "The result of a measurement of circulating Helicobacter pylori-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009342
+name: Measles virus seropositivity
+def: "The result of a measurement of circulating Measles virus-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009343
+name: Mumps virus seropositivity
+def: "The result of a measurement of circulating Mumps virus-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009344
+name: Rubella virus seropositivity
+def: "The result of a measurement of circulating Rubella virus-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009345
+name: Hepatitis B virus surface antigen seropositivity
+def: "The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies" []
+synonym: "HBs seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009346
+name: Hepatitis B virus core antigen seropositivity
+def: "The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies" []
+synonym: "HBc seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 ! infectious disease biomarker
+is_a: EFO:0007034 ! seropositivity measurement
+
+[Term]
+id: EFO:0009347
+name: Anti-cytomegalovirus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection" []
+synonym: "CMV IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009348
+name: Anti-Epstein-Barr virus early antigen IgG measurement
+def: "Quantification of antibodies to the Epstein-Barr virus early antigen" []
+synonym: "EBV-EA IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009349
+name: Anti-herpes simplex virus 1 IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection" []
+synonym: "HSV1 IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009350
+name: Anti-herpes simplex virus 2 IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection" []
+synonym: "HSV2 IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009351
+name: Anti-varicella zoster virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection" []
+synonym: "VZV IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009352
+name: Anti-Helicobacter pylori IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009353
+name: Anti-Toxoplasma gondii IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009354
+name: Anti-influenza A virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to influenza A virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+
+[Term]
+id: EFO:0009355
+name: Anti-measles virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to measles virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009356
+name: Anti-mumps virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to mumps virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009357
+name: Anti-rubella virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to rubella virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009358
+name: Anti-hepatitis B virus surface antigen IgG measurement
+def: "Quantification of antibodies to the hepatitis B virus surface antigen" []
+synonym: "HBs IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009359
+name: Anti-hepatitis B virus core antigen IgG measurement
+def: "Quantification of antibodies to the hepatitis B virus core antigen" []
+synonym: "HBc IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+
+[Term]
+id: EFO:0009360
+name: eyelid sagging measurement
+def: "Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist." []
+synonym: "blepharoptosis measurement" EXACT []
+synonym: "dermatochalasis measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29654602 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0007841 ! facial morphology measurement
+
+[Term]
+id: EFO:0009361
+name: colorectal mucinous adenocarcinoma
+def: "An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion." []
+property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43585 xsd:string
+is_a: EFO:0000365 ! colorectal adenocarcinoma
+
+[Term]
+id: EFO:0009362
+name: nicotine withdrawal measurement
+def: "Quantification of measure of nicotine withdrwawal." []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29532581 xsd:string
+property_value: IAO:0000117 "Joannella Morales" xsd:string
+is_a: EFO:0001444 ! measurement
+
+[Term]
+id: EFO:0009363
+name: chronic central serous retinopathy
+def: "Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life." []
+synonym: "chronic central serous chorioretinopathy" EXACT []
+property_value: http://www.ebi.ac.uk/efo/Wikipedia_definition_citation Wikipedia:Central_serous_retinopathy xsd:string
+is_a: EFO:0003839 ! retinopathy
+
+[Term]
+id: EFO:0009364
+name: non-allergic rhinitis
+def: "Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens." []
+synonym: "nonallergic rhinitis" EXACT []
+is_a: EFO:0008521 ! rhinitis
+
+[Term]
+id: EFO:0009365
+name: vaginal discharge
+def: "Normal or abnormal secretions from the vagina." []
+property_value: gwas:trait "true" xsd:boolean
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0005757 ! vaginal inflammation
+
+[Term]
+id: EFO:0009366
+name: quality of life during menstruation measurement
+def: "A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period." []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29855537 xsd:string
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0001444 ! measurement
+
+[Term]
+id: EFO:0009367
+name: glucose metabolism measurement
+def: "Quantification of a glucose metabolic process." []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29130521 xsd:string
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0006514 ! Alzheimer's disease biomarker measurement
+
+[Term]
+id: EFO:0009368
+name: factor VII activating protease measurement
+def: "Quantification of the amount of factor VII activating protease in a blood sample" []
+synonym: "Factor seven-activating protease measurement" EXACT []
+synonym: "FSAP measurement" EXACT []
+synonym: "Hepatocyte growth factor activator-like protein measurement" EXACT []
+synonym: "Hyaluronan-binding protein 2 measurement" EXACT []
+synonym: "Plasma hyaluronan-binding protein measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30070759 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0007937 ! blood protein measurement
+
+[Term]
+id: EFO:0009369
+name: diffusing capacity of the lung for carbon monoxide
+def: "A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs." []
+synonym: "carbon monoxide diffusing capacity" EXACT []
+synonym: "pulmonary diffusing capacity" EXACT []
+synonym: "transfer factor of the lung for carbon monoxide" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30049742 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0003892 ! pulmonary function measurement
+is_a: EFO:0006841 ! respiratory disease biomarker
+
+[Term]
+id: EFO:0009370
+name: radon exposure measurement
+def: "Quantification of some aspect of exposure to radon gas" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29971594 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0008360 ! environmental exposure measurement
+
+[Term]
+id: EFO:0009371
+name: ketogenic diet
+def: "A high-fat, adequate-protein, low-carbohydrate diet. It is primarily used in medicine to treat difficult-to-control epilepsy in children." []
+property_value: gwas:trait "true" xsd:boolean
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0002755 ! diet
+
+[Term]
+id: EFO:0009372
+name: response to ketogenic diet
+def: "The physiological response of an organism to being fed a ketogenic diet." []
+property_value: gwas:trait "true" xsd:boolean
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0005844 ! response to dietary antigen
+
+[Term]
+id: EFO:0009373
+name: edema
+def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." []
+synonym: "Dropsy" EXACT []
+synonym: "Fluid retention" EXACT []
+synonym: "Hydrops" EXACT []
+synonym: "Oedema" EXACT []
+synonym: "Water retention" EXACT []
+property_value: http://www.ebi.ac.uk/efo/HP_definition_citation HP:0000969 xsd:string
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0000701 ! skin disease
+
[Term]
id: EFO:1000003
name: Zinc deficiency
@@ -135761,9 +136236,9 @@ id: EFO:1000065
name: Acinar Prostate Mucinous Adenocarcinoma
def: "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C5537 xsd:string
+is_a: EFO:0000197 ! mucinous carcinoma
is_a: EFO:0000216 ! acinar cell carcinoma
is_a: EFO:0000673 ! prostate adenocarcinoma
-is_a: EFO:1000387 ! mucinuos carcinoma
[Term]
id: EFO:1000066
@@ -138221,11 +138696,12 @@ is_a: EFO:0000503 ! gastric adenocarcinoma
[Term]
id: EFO:1000387
-name: mucinuos carcinoma
-synonym: "mucinous adenocarcinoma" EXACT []
-property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C26712 xsd:string
-property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0007130 xsd:string
-is_a: EFO:0000228 ! adenocarcinoma
+name: obsolete_mucinuos carcinoma
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma" xsd:string
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.ebi.ac.uk/efo/EFO_0000197
[Term]
id: EFO:1000388
@@ -140532,7 +141008,7 @@ is_a: EFO:1000697 ! exanthem
[Term]
id: EFO:1000672
-name: Bloch-Sulzberger syndrome
+name: obsolete_Bloch-Sulzberger syndrome
def: "a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []
synonym: "Bloch-Siemens syndrome" EXACT []
synonym: "Incontinentia pigmenti" EXACT []
@@ -140540,9 +141016,13 @@ synonym: "Incontinentia pigmenti syndrome" EXACT []
synonym: "melanoblastosis cutis" EXACT []
synonym: "nevus pigmentosus systematicus" EXACT []
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:12305 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of Orphanet term\nUse: Orphanet_464 Label: Incontinentia pigmenti" xsd:string
property_value: http://www.ebi.ac.uk/efo/Wikipedia_definition_citation Wikipedia:Incongenita_pigmenti xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:1000755 ! pigmentation disease
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_464
[Term]
id: EFO:1000673
@@ -140990,7 +141470,7 @@ is_a: EFO:1000714 ! impetigo
[Term]
id: EFO:1000716
-name: incontinentia pigmenti achromians
+name: obsolete_incontinentia pigmenti achromians
def: "a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []
synonym: "Bloch-Siemans syndrome, nevus of Ito" EXACT []
synonym: "Hypomelanosis of Ito" EXACT []
@@ -140999,8 +141479,12 @@ synonym: "Incontinentia pigmenti syndrome" EXACT []
synonym: "Ito's nevus" EXACT []
property_value: definition:citation http://emedicine.medscape.com/article/1058580-overview xsd:string
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:3156 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of Orphanet term\nUse: Orphanet:435 Label: Ito hypomelanosis" xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:0000701 ! skin disease
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_435
[Term]
id: EFO:1000717
@@ -143586,7 +144070,7 @@ synonym: "Poroma (Acrospiroma)" EXACT []
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:5442 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D018250 xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:0005553 ! eccrine sweat gland cancer
+is_a: EFO:1001204 ! sweat gland neoplasm
[Term]
id: EFO:1000913
@@ -160375,6 +160859,198 @@ is_a: GO:0044707 ! single-multicellular organism process
created_by: tb
creation_date: 2013-05-29T22:02:52Z
+[Term]
+id: HANCESTRO:0003
+name: country
+def: "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." []
+property_value: IAO:0000119 NCIT:C25464 xsd:string
+is_a: OBI:0000245 ! organization
+
+[Term]
+id: HANCESTRO:0004
+name: ancestry category
+name: ancestry group
+synonym: "ancestral group" EXACT []
+is_a: OBI:0000181 ! population
+
+[Term]
+id: HANCESTRO:0005
+name: European
+def: "Includes individuals who either self-report or have been described by authors as\nEuropean, 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." []
+synonym: "Caucasian" EXACT []
+synonym: "white" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0006
+name: South Asian
+def: "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\nBEB, GIH, ITU, PJL and STU populations." []
+is_a: HANCESTRO:0008 ! Asian
+
+[Term]
+id: HANCESTRO:0008
+name: Asian
+def: "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." []
+synonym: "Asian unspecified" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0009
+name: East Asian
+def: "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." []
+is_a: HANCESTRO:0008 ! Asian
+
+[Term]
+id: HANCESTRO:0010
+name: African
+def: "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." []
+synonym: "African unspecified" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0011
+name: Sub-Saharan African
+def: "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).\nThis 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." []
+is_a: HANCESTRO:0010 ! African
+
+[Term]
+id: HANCESTRO:0013
+name: Native American
+def: "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." []
+synonym: "American Indian" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0014
+name: Hispanic or Latin American
+def: "Includes individuals who either self-report or are described by authors as Hispanic, Latino, Latin American or one of the sub-populations\nfrom 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" []
+property_value: IAO:0000117 "Jackie MacArthur" xsd:string
+property_value: IAO:0000117 "Joannella Morales" xsd:string
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0015
+name: Greater Middle Eastern (Middle Eastern, North African or Persian)
+def: "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." []
+synonym: "Middle Eastern/North African" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0016
+name: African American or Afro-Caribbean
+def: "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." []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0017
+name: Oceanian
+def: "Includes individuals that either self-report or have been described by authors as\nOceanian 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." []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0019
+name: Japanese
+is_a: HANCESTRO:0009 ! East Asian
+
+[Term]
+id: HANCESTRO:0021
+name: Chinese
+is_a: HANCESTRO:0009 ! East Asian
+
+[Term]
+id: HANCESTRO:0022
+name: Korean
+is_a: HANCESTRO:0009 ! East Asian
+
+[Term]
+id: HANCESTRO:0027
+name: Han Chinese
+is_a: HANCESTRO:0021 ! Chinese
+
+[Term]
+id: HANCESTRO:0290
+name: genetically isolated population
+def: "a population with increased genetic homogeneity and reduced genetic variation due to cultural or geographic isolation" []
+synonym: "founder population" EXACT []
+synonym: "population isolate" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0304
+name: ancestry status
+def: "general characterisation of the ancestry of a population or individual" []
+is_a: BFO:0000019 ! quality
+
+[Term]
+id: HANCESTRO:0305
+name: genetically isolated ancestry
+def: "Ancestry that is the result of cultural or geographic isolation. Generally characterised by increased genetic homogeneity and reduced genetic variation" []
+is_a: HANCESTRO:0304 ! ancestry status
+
+[Term]
+id: HANCESTRO:0306
+name: admixed ancestry
+def: "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" []
+is_a: HANCESTRO:0304 ! ancestry status
+
+[Term]
+id: HANCESTRO:0383
+name: Irish
+is_a: HANCESTRO:0005 ! European
+
+[Term]
+id: HANCESTRO:0438
+name: Iranian
+is_a: HANCESTRO:0015 ! Greater Middle Eastern (Middle Eastern, North African or Persian)
+
+[Term]
+id: HANCESTRO:0462
+name: British
+is_a: HANCESTRO:0005 ! European
+
+[Term]
+id: HANCESTRO:0463
+name: American
+synonym: "European American" EXACT []
+is_a: HANCESTRO:0005 ! European
+
+[Term]
+id: HANCESTRO:0487
+name: Indian
+synonym: "Asian Indian" EXACT []
+synonym: "Indian Asian" EXACT []
+is_a: HANCESTRO:0006 ! South Asian
+
+[Term]
+id: HANCESTRO:0498
+name: Filipino
+is_a: HANCESTRO:0008 ! Asian
+
+[Term]
+id: HANCESTRO:0568
+name: African American
+is_a: HANCESTRO:0016 ! African American or Afro-Caribbean
+
+[Term]
+id: HANCESTRO:0570
+name: Pima Indian
+is_a: HANCESTRO:0013 ! Native American
+
+[Term]
+id: HANCESTRO:0573
+name: Native Hawaiian
+is_a: HANCESTRO:0017 ! Oceanian
+
+[Term]
+id: HANCESTRO:0574
+name: Pacific Islander
+is_a: HANCESTRO:0017 ! Oceanian
+
+[Term]
+id: HANCESTRO:0575
+name: Yoruban
+is_a: HANCESTRO:0011 ! Sub-Saharan African
+
[Term]
id: HP:0000005
name: mode of inheritance
@@ -163344,6 +164020,17 @@ synonym: "acrochorda" EXACT []
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0037293 xsd:string
is_a: HP:0000951 ! abnormality of the skin
+[Term]
+id: HP:0010750
+name: dermatochalasis
+def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." []
+synonym: "Hooding of eyelids" EXACT []
+property_value: gwas:trait "true" xsd:boolean
+property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT_US:246815009 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0423124 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C2674149 xsd:string
+is_a: HP:0000234 ! Abnormality of the head
+
[Term]
id: HP:0010752
name: Cleft mandible
@@ -194559,6 +195246,7 @@ id: Orphanet:206713
name: Distal spinal muscular atrophy
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:G12.1 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0393541 xsd:string
+is_a: EFO:0008525 ! spinal muscular atrophy
is_a: Orphanet:98505 ! Genetic motor neuron disease
[Term]
@@ -200060,13 +200748,12 @@ is_a: Orphanet:89832 ! Syndromic lymphedema
[Term]
id: Orphanet:2416
-name: Congenital primary lymphedema
-def: "Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []
-property_value: definition:citation "orphanet" xsd:string
-property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.0 xsd:string
-property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C1704423 xsd:string
-is_a: Orphanet:77240 ! Primary lymphedema
-is_a: Orphanet:98614 ! Conjunctival lymphangiectasia
+name: obsolete_Congenital primary lymphedema
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Following Orphanet obsoletion\nUse: Orphanet:79452 Label: Milroy disease" xsd:string
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_79452
[Term]
id: Orphanet:242
@@ -201276,6 +201963,7 @@ property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q13.1 x
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:106210 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:617141 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:617142 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:77 ! Aniridia
[Term]
@@ -219457,7 +220145,7 @@ id: Orphanet:359
name: Hereditary glaucoma
def: "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []
property_value: definition:citation "orphanet" xsd:string
-is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
+is_a: Orphanet:183557 ! Genetic developmental defect of the eye
[Term]
id: Orphanet:35909
@@ -221895,7 +222583,7 @@ synonym: "Epithelial cancer of ovary" EXACT []
synonym: "Ovarian epithelial cancer" EXACT []
synonym: "Ovarian malignant epithelial tumor" EXACT []
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:C56 xsd:string
-is_a: EFO:0001075 ! ovarian carcinoma
+is_a: EFO:0003893 ! ovarian neoplasm
[Term]
id: Orphanet:399
@@ -223172,12 +223860,14 @@ is_a: Orphanet:238666 ! Isolated congenital hypogonadotropic hypogonadism
[Term]
id: Orphanet:435
name: Ito hypomelanosis
+def: "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." []
synonym: "HI syndrome" EXACT []
synonym: "Hypomelanosis of Ito" EXACT []
synonym: "Incontinentia pigmenti type 1" EXACT []
synonym: "Pigmentary mosaicism, Ito type" EXACT []
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q87.8 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:300337 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0022283 xsd:string
is_a: Orphanet:166466 ! Neurocutaneous syndrome with epilepsy
is_a: Orphanet:183469 ! Genetic hypopigmentation of the skin
is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome
@@ -223476,6 +224166,9 @@ property_value: definition:citation "orphanet" xsd:string
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.3 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D007184 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:308300 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0021171 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0022283 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C2930820 xsd:string
is_a: Orphanet:166466 ! Neurocutaneous syndrome with epilepsy
is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome
is_a: Orphanet:98464 ! X-linked syndromic intellectual disability
@@ -225351,6 +226044,7 @@ synonym: "Congenital miosis" EXACT []
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:C537550 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:156600 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C1303009 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:98634 ! Iridogoniodysgenesis
[Term]
@@ -226628,7 +227322,7 @@ is_a: EFO:0005815 ! tauopathy
is_a: EFO:1001380 ! Niemann-Pick disease
is_a: Orphanet:183500 ! Genetic neurodegenerative disease
is_a: Orphanet:68385 ! Neurometabolic disease
-is_a: Orphanet:79204 ! Lipid storage disease
+is_a: Orphanet:79225 ! Sphingolipidosis
is_a: Orphanet:98666 ! Unclassified primitive or secondary maculopathy
is_a: Orphanet:98687 ! Supranuclear oculomotor palsy
@@ -227940,6 +228634,7 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:253300 xs
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:253400 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:253550 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:271150 xsd:string
+is_a: EFO:0008525 ! spinal muscular atrophy
is_a: Orphanet:98497 ! Genetic peripheral neuropathy
is_a: Orphanet:98505 ! Genetic motor neuron disease
@@ -228111,6 +228806,7 @@ property_value: http://www.ebi.ac.uk/efo/MedDRA_definition_citation MedDRA:10059
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:C537884 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:604229 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:617315 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:98558 ! Rare eye disease due to a differentiation anomaly
is_a: Orphanet:98636 ! Corneoiridogoniodysgenesis
@@ -229338,7 +230034,6 @@ property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0003076
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C2931795 xsd:string
is_a: Orphanet:98554 ! Major induction processes eye anomaly
is_a: Orphanet:98634 ! Iridogoniodysgenesis
-is_a: Orphanet:98641 ! Syndromic cataract
[Term]
id: Orphanet:772
@@ -229702,6 +230397,7 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:180500 xs
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:601499 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:602482 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0265341 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:117573 ! Syndromic anorectal malformation
is_a: Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: Orphanet:95495 ! Disease associated with non-acquired combined pituitary hormone deficiency
@@ -229765,8 +230461,8 @@ property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D012175 xsd
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:180200 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0035335 xsd:string
is_a: EFO:0003824 ! eye neoplasm
-is_a: Orphanet:183619 ! Genetic eye tumor
-is_a: Orphanet:98657 ! Genetic vitreous-retinal disease
+is_a: EFO:0003839 ! retinopathy
+is_a: EFO:0005950 ! head and neck neoplasia
[Term]
id: Orphanet:79022
@@ -230536,7 +231232,7 @@ id: Orphanet:79204
name: Lipid storage disease
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:E75.5 xsd:string
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:E75.6 xsd:string
-is_a: Orphanet:79225 ! Sphingolipidosis
+is_a: Orphanet:68366 ! Lysosomal disease
[Term]
id: Orphanet:79207
@@ -230620,7 +231316,7 @@ property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:E75.3 x
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D013106 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D013106 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0037899 xsd:string
-is_a: Orphanet:68366 ! Lysosomal disease
+is_a: Orphanet:79204 ! Lipid storage disease
[Term]
id: Orphanet:79226
@@ -231726,7 +232422,7 @@ name: Lymphedema
property_value: http://www.ebi.ac.uk/efo/MedDRA_definition_citation MedDRA:10025282 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D008209 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0024236 xsd:string
-is_a: Orphanet:68346 ! Rare genetic skin disease
+is_a: EFO:0000701 ! skin disease
[Term]
id: Orphanet:79385
@@ -232112,18 +232808,19 @@ is_a: Orphanet:294060 ! Multiple pterygium syndrome
[Term]
id: Orphanet:79450
-name: Non hereditary congenital primary lymphedema
-def: ")." []
-synonym: "Milroy-like disease" EXACT []
-property_value: definition:citation "orphanet" xsd:string
-property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.0 xsd:string
-is_a: Orphanet:2416 ! Congenital primary lymphedema
+name: obsolete_Non hereditary congenital primary lymphedema
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Following Orphanet obsoleting\nUse: Orphanet_79452 Label: Milroy disease" xsd:string
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_79452
[Term]
id: Orphanet:79452
name: Milroy disease
def: "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []
synonym: "Hereditary lymphedema type I" EXACT []
+synonym: "Milroy-like disease" EXACT []
synonym: "Nonne-Milroy lymphedema" EXACT []
property_value: definition:citation "orphanet" xsd:string
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.0 xsd:string
@@ -232133,7 +232830,8 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:611944 xs
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:613480 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:615907 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C1704423 xsd:string
-is_a: Orphanet:2416 ! Congenital primary lymphedema
+is_a: Orphanet:77240 ! Primary lymphedema
+is_a: Orphanet:98614 ! Conjunctival lymphangiectasia
[Term]
id: Orphanet:79458
@@ -236535,6 +237233,7 @@ name: Isolated congenital megalocornea
synonym: "Congenital anterior megalophthalmia" EXACT []
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q15.8 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:309300 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:98635 ! Corneogoniodysgenesis
[Term]
@@ -236542,12 +237241,14 @@ id: Orphanet:91490
name: Isolated congenital sclerocornea
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q13.3 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:181700 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:98635 ! Corneogoniodysgenesis
[Term]
id: Orphanet:91491
name: Congenital ectropion uveae
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q10.1 xsd:string
+is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
is_a: Orphanet:98634 ! Iridogoniodysgenesis
[Term]
@@ -241033,6 +241734,7 @@ is_a: Orphanet:98554 ! Major induction processes eye anomaly
id: Orphanet:98557
name: Syndromic aniridia
is_a: Orphanet:77 ! Aniridia
+is_a: Orphanet:98641 ! Syndromic cataract
[Term]
id: Orphanet:98558
@@ -246655,6 +247357,12 @@ property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:6
property_value: IAO:0000117 "SO editors" xsd:string
is_a: BFO:0000040 ! material entity
+[Term]
+id: South:Korea
+name: South Korea
+synonym: "Republic of Korea" EXACT []
+is_a: HANCESTRO:0003 ! country
+
[Term]
id: TO:0000259
name: heat tolerance
@@ -267018,6 +267726,18 @@ property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:2
property_value: IAO:0000117 "george gkoutos" xsd:string
is_a: UO:0000182 ! density unit
+[Term]
+id: United:Kingdom
+name: United Kingdom
+synonym: "U.K." EXACT []
+is_a: HANCESTRO:0003 ! country
+
+[Term]
+id: United:States
+name: United States
+synonym: "U.S." EXACT []
+is_a: HANCESTRO:0003 ! country
+
[Term]
id: WBls:0000003
name: embryo Ce
@@ -267404,6 +268124,38 @@ property_value: http://www.ebi.ac.uk/efo/ZFA_definition_citation ZFA:0009150 xsd
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
is_a: EFO:0003331 ! zebrafish component
+[Term]
+id: http://dbpedia.org/resource/China
+name: China
+is_a: HANCESTRO:0003 ! country
+
+[Term]
+id: http://dbpedia.org/resource/India
+name: India
+is_a: HANCESTRO:0003 ! country
+
+[Term]
+id: http://dbpedia.org/resource/Iran
+name: Iran
+synonym: "Iran (Islamic Republic of)" EXACT []
+is_a: HANCESTRO:0003 ! country
+
+[Term]
+id: http://dbpedia.org/resource/Japan
+name: Japan
+is_a: HANCESTRO:0003 ! country
+
+[Term]
+id: http://dbpedia.org/resource/Philippines
+name: Philippines
+is_a: HANCESTRO:0003 ! country
+
+[Term]
+id: http://dbpedia.org/resource/Republic_of_Ireland
+name: Republic of Ireland
+synonym: "Ireland" EXACT []
+is_a: HANCESTRO:0003 ! country
+
[Typedef]
id: EFO:0000824
name: relationship
diff --git a/efo.owl b/efo.owl
index 1255aed8..12068754 100644
--- a/efo.owl
+++ b/efo.owl
@@ -19,7 +19,7 @@
xmlns:foaf="http://xmlns.com/foaf/0.1/"
xmlns:dc="http://purl.org/dc/elements/1.1/">
-
+
Gautier Koscielny
Helen Parkinson
Natalja Kurbatova
@@ -34,18 +34,18 @@ License.
Paola Roncaglia
Jon Ison
Eleanor Williams
+ 2018-10-15
Simon Jupp
Zoe May Pendlington
Dani Welter
1.4
- 2018-09-17
Catherine Leroy
Drashtti Vasant
www.apache.org/licenses/LICENSE-2.0
Ele Holloway
Tomasz Adamusiak
Trish Whetzel
- 2.100
+ 2.101
@@ -127,6 +127,12 @@ License.
+
+
+
+
+
+
@@ -2315,6 +2321,31 @@ This annotation property may be replaced with an annotation property from an ext
+
+
+
+ hasAncestryStatus
+
+
+
+
+
+
+
+
+ hasDemonym
+
+
+
+
+
+
+
+ isDemonymOf
+
+
+
+
@@ -2912,6 +2943,146 @@ This annotation property may be replaced with an annotation property from an ext
+
+
+
+
+ China
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ India
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Iran (Islamic Republic of)
+ Iran
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Japan
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Philippines
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Ireland
+ Republic of Ireland
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Republic of Korea
+ South Korea
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ U.K.
+ United Kingdom
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ U.S.
+ United States
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
@@ -15917,12 +16088,6 @@ Established melanoma cell line from the Skin Cancer Unit at the German Cancer Re
indole-3-carboxylic acid
indole-3-carboxylic acid
-
-
-
- indole-3-carboxylic acid
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -15947,6 +16112,12 @@ Established melanoma cell line from the Skin Cancer Unit at the German Cancer Re
indole-3-carboxylic acid
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+ indole-3-carboxylic acid
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
@@ -117310,6 +117481,502 @@ The process by which a callus is formed at a wound site. A plant callus is a por
+
+
+
+
+ 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
+ ancestry group
+
+
+
+
+
+
+
+
+ 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 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, 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
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Japanese
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Chinese
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Korean
+
+
+
+
+
+
+
+
+ Han Chinese
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ 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 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
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Irish
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Iranian
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ British
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ European American
+ American
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Asian Indian
+ Indian Asian
+ Indian
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Filipino
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ African American
+
+
+
+
+
+
+
+
+ Pima Indian
+
+
+
+
+
+
+
+
+ Native Hawaiian
+
+
+
+
+
+
+
+
+ Pacific Islander
+
+
+
+
+
+
+
+
+ Yoruban
+
+
+
+
@@ -126437,6 +127104,21 @@ SOURCE COMMENT: A good starting point for evaluating hypoglycemia is to divide p
+
+
+
+
+ Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.
+ SNOMEDCT_US:246815009
+ UMLS:C0423124
+ UMLS:C2674149
+ Hooding of eyelids
+ true
+ dermatochalasis
+
+
+
+
@@ -236651,13 +237333,14 @@ New Label : MELAS syndrome
-
+
An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.
James Malone
Sirarat Sarntivijai
DOID:3030
NCIt:C26712
SNOMEDCT:72495009
+ UMLS:C0007130
adenocarcinoma, mucinous, malignant
colloid adenocarcinoma
colloid carcinoma
@@ -242929,7 +243612,7 @@ label: colon
-
+
@@ -263783,6 +264466,7 @@ label: penis
+
@@ -284885,7 +285569,7 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp
-
+
@@ -284899,8 +285583,10 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp
+ A cell line of epithelial morphology derived from adult human brain.
Ele Holloway
James Malone
+ https://www.atcc.org/products/all/HTB-148.aspx#generalinformation
H4
@@ -287171,7 +287857,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma.
-
+
@@ -289747,7 +290433,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma.
-
+
@@ -290750,7 +291436,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma.
-
+
@@ -299244,7 +299930,7 @@ label: chorion
-
+
@@ -302216,7 +302902,7 @@ A MIN6 derives from a mus musculus.
-
+
@@ -302496,7 +303182,7 @@ Homo sapiens.
-
+
@@ -310124,9 +310810,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0568
NCIt:C16352
SNOMEDCT:15086000
Afro American
@@ -310138,7 +310825,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
BLACK OR AFRICAN AMERICAN[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
- African American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_African American
@@ -310146,10 +310836,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0463
UMLS:C0596070
- American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_American
@@ -310157,15 +310851,19 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
Jie Zheng
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0008
NCIt:C41260
Asians
Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
- Asian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian
@@ -310173,9 +310871,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0487
NCIt:C41262
SNOMEDCT:414481008
Asian Indians
@@ -310184,7 +310883,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Asian Indians[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
- Asian Indian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian Indian
@@ -310192,14 +310894,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0574
NCIt:C41219
Native Hawaiian or Other Pacific Islander
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
- Asian/Pacific Islander
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian/Pacific Islander
@@ -310207,10 +310913,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0462
UMLS:C0596227
- British
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_British
@@ -310218,10 +310928,11 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.
Jie Zheng
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
NCIt:C41261
NCIt:C43851
NCIt:C48325
@@ -310239,7 +310950,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Occidental[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
White[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Whites[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
- Caucasian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Caucasian
@@ -310247,13 +310961,17 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0021
NCIt:C43391
SNOMEDCT:33897005
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011]
- Chinese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Chinese
@@ -310261,9 +310979,13 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Ele Holloway
- Eastern Indian
+ http://purl.obolibrary.org/obo/HANCESTRO_0487
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Eastern Indian
@@ -310271,10 +310993,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
http://en.wikipedia.org/wiki/European_American
- European-American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_European-American
@@ -310282,12 +311008,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0498
NCIt:C43393
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011]
- Filipino
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Filipino
@@ -310295,15 +311025,19 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)
Han Chinese
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0027
CHB
Han People
http://en.wikipedia.org/wiki/Han_Chinese
http://en.wikipedia.org/wiki/Han_Chinese
- Han Chinese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Han Chinese
@@ -310311,12 +311045,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0438
NCIt:C43869
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011]
- Iranian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Iranian
@@ -310324,12 +311062,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0383
NCIt:C43856
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011]
- Irish
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Irish
@@ -310337,14 +311079,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0019
NCIt:C43392
SNOMEDCT:414551003
JPT
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011]
- Japanese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Japanese
@@ -310352,12 +311098,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0022
NCIt:C43395
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011]
- Korean
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Korean
@@ -310365,9 +311115,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0014
NCIt:C17459
SNOMEDCT:414408004
Hispanic
@@ -310383,7 +311134,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
- Latino
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Latino
@@ -310391,12 +311145,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0570
NCIt:C44085
Pima
Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011]
- Pima Indian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Pima Indian
@@ -310404,14 +311162,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0573
NCIt:C43394
Native Hawaiian
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
- Hawaiian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Hawaiian
@@ -310419,9 +311181,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0014
NCIt:C17459
SNOMEDCT:414408004
Hispanic Populations
@@ -310435,8 +311198,11 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
Tomasz Adamusiak
- Hispanic
+ obsolete_Hispanic
@@ -335772,11 +336538,15 @@ New Label : Bronchopulmonary dysplasia
-
+
Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.
Helen Parkinson
+ http://purl.obolibrary.org/obo/HANCESTRO_0010
NCIt:C42331
- African
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_African
@@ -342079,13 +342849,17 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
The Yoruba people are one of the largest ethnic groups in West Africa.
James Malone
+ http://purl.obolibrary.org/obo/HANCESTRO_0575
SNOMEDCT:440659006
YRI
http://en.wikipedia.org/wiki/Yoruba_people
- Yoruba
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Yoruba
@@ -342093,11 +342867,15 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
Population of northern and western European ancestry.
James Malone
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
CEU
- Northern and Western European
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Northern and Western European
@@ -342114,7 +342892,7 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
@@ -347442,13 +348220,13 @@ Small-inducible cytokine A11.
-
+
-
+
@@ -347534,13 +348312,13 @@ Small-inducible cytokine A11.
-
+
-
+
@@ -347591,13 +348369,13 @@ Small-inducible cytokine A11.
-
+
-
+
@@ -348322,7 +349100,7 @@ Small-inducible cytokine A11.
-
+
@@ -348402,7 +349180,7 @@ Small-inducible cytokine A11.
-
+
@@ -349239,7 +350017,7 @@ Small-inducible cytokine A11.
-
+
@@ -349292,7 +350070,7 @@ Small-inducible cytokine A11.
-
+
@@ -349345,7 +350123,7 @@ Small-inducible cytokine A11.
-
+
@@ -349398,7 +350176,7 @@ Small-inducible cytokine A11.
-
+
@@ -349451,7 +350229,7 @@ Small-inducible cytokine A11.
-
+
@@ -349504,7 +350282,7 @@ Small-inducible cytokine A11.
-
+
@@ -349557,7 +350335,7 @@ Small-inducible cytokine A11.
-
+
@@ -349610,7 +350388,7 @@ Small-inducible cytokine A11.
-
+
@@ -349663,7 +350441,7 @@ Small-inducible cytokine A11.
-
+
@@ -349716,7 +350494,7 @@ Small-inducible cytokine A11.
-
+
@@ -349769,7 +350547,7 @@ Small-inducible cytokine A11.
-
+
@@ -349822,7 +350600,7 @@ Small-inducible cytokine A11.
-
+
@@ -349875,7 +350653,7 @@ Small-inducible cytokine A11.
-
+
@@ -349928,7 +350706,7 @@ Small-inducible cytokine A11.
-
+
@@ -349981,7 +350759,7 @@ Small-inducible cytokine A11.
-
+
@@ -350075,7 +350853,7 @@ Small-inducible cytokine A11.
-
+
@@ -350128,7 +350906,7 @@ Small-inducible cytokine A11.
-
+
@@ -350181,7 +350959,7 @@ Small-inducible cytokine A11.
-
+
@@ -350234,7 +351012,7 @@ Small-inducible cytokine A11.
-
+
@@ -350316,8 +351094,8 @@ Small-inducible cytokine A11.
-
-
+
+
@@ -350347,7 +351125,7 @@ Small-inducible cytokine A11.
-
+
@@ -351461,7 +352239,7 @@ Small-inducible cytokine A11.
-
+
@@ -354436,6 +355214,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
+
@@ -354468,7 +355247,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
- 46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
+ 46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
46C
@@ -354522,7 +355301,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
- 46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
+ 46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
http://e-lico.eu/populous#OPPL_pattern
@@ -358660,7 +359439,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -358820,7 +359599,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359022,7 +359801,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359066,7 +359845,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359225,7 +360004,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359453,7 +360232,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359566,7 +360345,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359619,7 +360398,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -359812,7 +360591,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -359873,7 +360652,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -359932,7 +360711,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -359989,7 +360768,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -360050,7 +360829,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -360158,7 +360937,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -363911,6 +364690,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -364024,6 +364804,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -364248,6 +365029,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -364426,6 +365208,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -364475,6 +365258,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -364521,6 +365305,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -365842,6 +366627,7 @@ A malignant neoplasm of the lymphatic system that is comprised of abnormal lymph
+
@@ -455331,6 +456117,7 @@ Diabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 ma
+
@@ -486989,7 +487776,8 @@ label: granulocyte colony-stimulating factor measurementMicrococcal nuclease mapping of nucleosomes (Nuc-seq)
Dani Welter
PMID:20512117
- Nuc-seq
+ Nuc-seq
+ nucleosome sequencing
@@ -488222,7 +489010,8 @@ label: granulocyte colony-stimulating factor measurementRestriction-site associated DNA (RAD) marker generation
Dani Welter
PMID:18852878
- RAD
+ RAD
+ restriction-site associated DNA sequencing
@@ -505204,6 +505993,2070 @@ to hypernasality and abnormal speech reduction.
+
+
+
+
+ filtering process that either includes or excludes cells of a certain diameter using a physical filter
+ Dani Welter
+ cell size selection
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ EBV-EA seropositivity
+ true
+ Epstein-Barr virus early antigen seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ EBV-EA seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Herpes simplex virus 2-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HSV2 seropositivity
+ true
+ Herpes simplex virus 2 seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Herpes simplex virus 2-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV2 seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Varicella zoster virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ VZV seropositivity
+ true
+ Varicella zoster virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Varicella zoster virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ VZV seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Helicobacter pylori-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Helicobacter pylori seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Helicobacter pylori-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Measles virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Measles virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Measles virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Mumps virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Mumps virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Mumps virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Rubella virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Rubella virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Rubella virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HBs seropositivity
+ true
+ Hepatitis B virus surface antigen seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBs seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HBc seropositivity
+ true
+ Hepatitis B virus core antigen seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBc seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection
+ Laura Harris
+ PMID:30053915
+ CMV IgG measurement
+ true
+ Anti-cytomegalovirus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ CMV IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the Epstein-Barr virus early antigen
+ Laura Harris
+ PMID:30053915
+ EBV-EA IgG measurement
+ true
+ Anti-Epstein-Barr virus early antigen IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of antibodies to the Epstein-Barr virus early antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ EBV-EA IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection
+ Laura Harris
+ PMID:30053915
+ HSV1 IgG measurement
+ true
+ Anti-herpes simplex virus 1 IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV1 IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection
+ Laura Harris
+ PMID:30053915
+ HSV2 IgG measurement
+ true
+ Anti-herpes simplex virus 2 IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV2 IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection
+ Laura Harris
+ PMID:30053915
+ VZV IgG measurement
+ true
+ Anti-varicella zoster virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ VZV IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-Helicobacter pylori IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-Toxoplasma gondii IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to influenza A virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-influenza A virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to influenza A virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to measles virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-measles virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to measles virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to mumps virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-mumps virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to mumps virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to rubella virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-rubella virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to rubella virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus surface antigen
+ Laura Harris
+ PMID:30053915
+ HBs IgG measurement
+ true
+ Anti-hepatitis B virus surface antigen IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus surface antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBs IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus core antigen
+ Laura Harris
+ PMID:30053915
+ HBc IgG measurement
+ true
+ Anti-hepatitis B virus core antigen IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus core antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBc IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.
+ Laura Harris
+ PMID:29654602
+ blepharoptosis measurement
+ dermatochalasis measurement
+ true
+ eyelid sagging measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29654602
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ blepharoptosis measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ dermatochalasis measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion.
+ NCIt:C43585
+ colorectal mucinous adenocarcinoma
+
+
+
+
+
+
+
+
+ Quantification of measure of nicotine withdrwawal.
+ Joannella Morales
+ PMID:29532581
+ true
+ nicotine withdrawal measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of measure of nicotine withdrwawal.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Joannella Morales
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29532581
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.
+ Wikipedia:Central_serous_retinopathy
+ chronic central serous chorioretinopathy
+ chronic central serous retinopathy
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Wikipedia:Central_serous_retinopathy
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ chronic central serous chorioretinopathy
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens.
+ nonallergic rhinitis
+ non-allergic rhinitis
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ nonallergic rhinitis
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Normal or abnormal secretions from the vagina.
+ Annalisa Buniello
+ true
+ vaginal discharge
+
+
+
+
+
+
+
+
+ A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period.
+ Annalisa Buniello
+ PMID:29855537
+ true
+ quality of life during menstruation measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Annalisa Buniello
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29855537
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of a glucose metabolic process.
+ Annalisa Buniello
+ PMID:29130521
+ true
+ glucose metabolism measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of a glucose metabolic process.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Annalisa Buniello
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29130521
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of the amount of factor VII activating protease in a blood sample
+ Laura Harris
+ PMID:30070759
+ FSAP measurement
+ Factor seven-activating protease measurement
+ Hepatocyte growth factor activator-like protein measurement
+ Hyaluronan-binding protein 2 measurement
+ Plasma hyaluronan-binding protein measurement
+ true
+ factor VII activating protease measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the amount of factor VII activating protease in a blood sample
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30070759
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Hyaluronan-binding protein 2 measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.
+ Laura Harris
+ PMID:30049742
+ carbon monoxide diffusing capacity
+ pulmonary diffusing capacity
+ transfer factor of the lung for carbon monoxide
+ true
+ diffusing capacity of the lung for carbon monoxide
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30049742
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ pulmonary diffusing capacity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of some aspect of exposure to radon gas
+ Laura Harris
+ PMID:29971594
+ true
+ radon exposure measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of some aspect of exposure to radon gas
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29971594
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ A high-fat, adequate-protein, low-carbohydrate diet. It is primarily used in medicine to treat difficult-to-control epilepsy in children.
+ Annalisa Buniello
+ true
+ ketogenic diet
+
+
+
+
+
+
+
+
+ The physiological response of an organism to being fed a ketogenic diet.
+ Annalisa Buniello
+ true
+ response to ketogenic diet
+
+
+
+
+
+
+
+
+ An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
+ Annalisa Buniello
+ HP:0000969
+ Dropsy
+ Fluid retention
+ Hydrops
+ Oedema
+ Water retention
+ edema
+
+
+
+
@@ -508783,9 +511636,9 @@ Label : Disorder of carbohydrate metabolism
+
-
@@ -508815,19 +511668,19 @@ Label : Disorder of carbohydrate metabolism
-
+
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
+
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
+
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
@@ -528506,11 +531359,13 @@ Label : malignant epithelioid mesothelioma
-
- NCIt:C26712
- UMLS:C0007130
- mucinous adenocarcinoma
- mucinuos carcinoma
+
+ http://www.ebi.ac.uk/efo/EFO_0000197
+ 2.100
+ true
+ Duplication
+Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
+ obsolete_mucinuos carcinoma
@@ -545040,9 +547895,10 @@ These disorders are common in people of all ages and races. They are characteriz
-
+
a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.
Sirarat Sarntivijai
+ http://www.orpha.net/ORDO/Orphanet_464
DOID:12305
Wikipedia:Incongenita_pigmenti
Bloch-Siemens syndrome
@@ -545050,14 +547906,12 @@ These disorders are common in people of all ages and races. They are characteriz
Incontinentia pigmenti syndrome
melanoblastosis cutis
nevus pigmentosus systematicus
- Bloch-Sulzberger syndrome
+ 2.100
+ true
+ Duplication of Orphanet term
+Use: Orphanet_464 Label: Incontinentia pigmenti
+ obsolete_Bloch-Sulzberger syndrome
-
-
-
-
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -547072,9 +549926,10 @@ These disorders are common in people of all ages and races. They are characteriz
-
+
a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown.
Sirarat Sarntivijai
+ http://www.orpha.net/ORDO/Orphanet_435
DOID:3156
Bloch-Siemans syndrome, nevus of Ito
Hypomelanosis of Ito
@@ -547082,14 +549937,12 @@ These disorders are common in people of all ages and races. They are characteriz
Incontinentia pigmenti syndrome
Ito's nevus
http://emedicine.medscape.com/article/1058580-overview
- incontinentia pigmenti achromians
+ 2.100
+ true
+ Duplication of Orphanet term
+Use: Orphanet:435 Label: Ito hypomelanosis
+ obsolete_incontinentia pigmenti achromians
-
-
-
-
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -561151,7 +564004,17 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu
-
+
+
+
+
+
+
+
+
+
+
+
A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.
Sirarat Sarntivijai
DOID:5442
@@ -561163,12 +564026,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu
Poroma (Acrospiroma)
eccrine acrospiroma
-
-
-
-
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -588024,6 +590881,17 @@ Label : Sea-blue histiocytosis
+
+
+
+
+
+
+
+
+
+
+
@@ -646008,6 +648876,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
ICD10:G12.1
UMLS:C0393541
@@ -654157,13 +657026,13 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
-
- Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings.
- ICD10:Q82.0
- UMLS:C1704423
- orphanet
- Congenital primary lymphedema
+
+ http://www.orpha.net/ORDO/Orphanet_79452
+ 2.100
+ true
+ Following Orphanet obsoletion
+Use: Orphanet:79452 Label: Milroy disease
+ obsolete_Congenital primary lymphedema
@@ -683683,7 +686552,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
orphanet
Hereditary glaucoma
@@ -687314,7 +690183,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:C56
Epithelial cancer of ovary
Ovarian epithelial cancer
@@ -689490,8 +692359,10 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+ Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
ICD10:Q87.8
OMIM:300337
+ UMLS:C0022283
HI syndrome
Hypomelanosis of Ito
Incontinentia pigmenti type 1
@@ -689897,6 +692768,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
ICD10:Q82.3
MSH:D007184
OMIM:308300
+ UMLS:C0021171
+ UMLS:C0022283
+ UMLS:C2930820
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
orphanet
@@ -694392,7 +697266,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
@@ -696361,6 +699235,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
@@ -698392,7 +701267,6 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).
ICD10:Q13.1
MSH:C538293
@@ -699047,8 +701921,18 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
-
+
+
+
+
+
+
+
+
+
+
+
+
Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms).
ICD10:C69.2
MSH:D012175
@@ -700254,7 +703138,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:E75.5
ICD10:E75.6
Lipid storage disease
@@ -700363,7 +703247,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
DOID:1927
ICD10:E75.0
@@ -701860,7 +704744,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
MSH:D008209
MedDRA:10025282
UMLS:C0024236
@@ -702394,12 +705278,13 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
- ).
- ICD10:Q82.0
- Milroy-like disease
- orphanet
- Non hereditary congenital primary lymphedema
+
+ http://www.orpha.net/ORDO/Orphanet_79452
+ 2.100
+ true
+ Following Orphanet obsoleting
+Use: Orphanet_79452 Label: Milroy disease
+ obsolete_Non hereditary congenital primary lymphedema
@@ -702407,7 +705292,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
+
+
Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
ICD10:Q82.0
OMIM:153100
@@ -702417,6 +705304,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
OMIM:615907
UMLS:C1704423
Hereditary lymphedema type I
+ Milroy-like disease
Nonne-Milroy lymphedema
orphanet
Milroy disease
@@ -721572,9 +724460,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
RO:0002082
uberon
+ simultaneous_with
simultaneous_with
Relation between occurrents, shares start and end boundaries.
- simultaneous_with
coincides_with
simultaneous_with
is_equal_to
diff --git a/efo_full.obo b/efo_full.obo
index 76468a75..3ad84436 100644
--- a/efo_full.obo
+++ b/efo_full.obo
@@ -1,6 +1,6 @@
format-version: 1.2
-data-version: 2.100
-date: 17:09:2018 10:13
+data-version: 2.101
+date: 15:10:2018 10:51
subsetdef: abnormal_slim "abnormal slim"
subsetdef: attribute_slim "attribute slim"
subsetdef: cur "cur"
@@ -40576,9 +40576,10 @@ synonym: "mucous carcinoma" EXACT []
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:3030 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C26712 xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:72495009 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0007130 xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:0000313 ! carcinoma
+is_a: EFO:0000228 ! adenocarcinoma
[Term]
id: EFO:0000198
@@ -45747,7 +45748,7 @@ property_value: bioportal:provenance "Mucinous Colon Adenocarcinoma[accessedReso
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:3029 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C7966 xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
-is_a: EFO:0000365 ! colorectal adenocarcinoma
+is_a: EFO:1001949 ! colon adenocarcinoma
relationship: EFO:0000784 UBERON:0001155 ! has_disease_location colon
[Term]
@@ -62750,7 +62751,7 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:167000 xs
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
is_a: EFO:0000313 ! carcinoma
-is_a: EFO:0003893 ! ovarian neoplasm
+is_a: Orphanet:398934 ! Malignant epithelial tumor of ovary
relationship: EFO:0000784 UBERON:0000992 ! has_disease_location female gonad
[Term]
@@ -71800,12 +71801,13 @@ relationship: bearer_of EFO:0000565 ! leukemia
[Term]
id: EFO:0002184
name: H4
+def: "A cell line of epithelial morphology derived from adult human brain." []
+property_value: definition:citation https://www.atcc.org/products/all/HTB-148.aspx#generalinformation xsd:string
property_value: IAO:0000117 "Ele Holloway" xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
is_a: CL:0000010 ! cultured cell
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
-is_a: EFO:0003040 ! embryonic cell line
[Term]
id: EFO:0002185
@@ -72386,7 +72388,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002937 ! lymphoma or leukaemia cell line
relationship: bearer_of EFO:0000220 ! acute lymphoblastic leukemia
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
[Term]
id: EFO:0002240
@@ -73009,7 +73011,7 @@ is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002934 ! lung cancer cell line
relationship: bearer_of EFO:0000702 ! small cell lung carcinoma
relationship: bearer_of EFO:0001071 ! lung carcinoma
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
[Term]
id: EFO:0002301
@@ -73248,7 +73250,7 @@ is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002891 ! prostate derived cell line
is_a: EFO:0002922 ! normal cell line
relationship: bearer_of PATO:0000461 ! normal
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -77410,7 +77412,7 @@ is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0004902 ! European HapMap cell line
is_a: EFO:0005292 ! lymphoblastoid cell line
-relationship: derives_from EFO:0004901 ! Northern and Western European
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002924 ! is_input_of HapMap haplotype mapping
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -78218,7 +78220,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002934 ! lung cancer cell line
relationship: bearer_of EFO:0000571 ! lung adenocarcinoma
-relationship: derives_from EFO:0003164 ! Japanese
+relationship: derives_from HANCESTRO:0019 ! Japanese
[Term]
id: EFO:0002853
@@ -78285,7 +78287,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0000174 ! Ewing sarcoma
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -81788,7 +81790,7 @@ is_a: EFO:0003146 ! symptomatic heart failure
[Term]
id: EFO:0003150
-name: African American
+name: obsolete_African American
def: "A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described." []
synonym: "Afro American" EXACT []
synonym: "Black" EXACT []
@@ -81800,32 +81802,44 @@ property_value: bioportal:provenance "BLACK OR AFRICAN AMERICAN[accessedResource
property_value: bioportal:provenance "Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C16352 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:15086000 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0568
[Term]
id: EFO:0003151
-name: American
+name: obsolete_American
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0596070 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0463
[Term]
id: EFO:0003152
-name: Asian
+name: obsolete_Asian
def: "Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam." []
synonym: "Asians" EXACT []
property_value: bioportal:provenance "Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41260 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Jie Zheng" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0008
[Term]
id: EFO:0003153
-name: Asian Indian
+name: obsolete_Asian Indian
def: "In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans." []
synonym: "Asian Indians" EXACT []
synonym: "Hindu" EXACT []
@@ -81834,31 +81848,43 @@ property_value: bioportal:provenance "Asian Indians[accessedResource: NCIt:C4126
property_value: bioportal:provenance "In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41262 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414481008 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0487
[Term]
id: EFO:0003154
-name: Asian/Pacific Islander
+name: obsolete_Asian/Pacific Islander
def: "Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified." []
synonym: "Native Hawaiian or Other Pacific Islander" EXACT []
property_value: bioportal:provenance "Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41219 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0574
[Term]
id: EFO:0003155
-name: British
+name: obsolete_British
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0596227 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0462
[Term]
id: EFO:0003156
-name: Caucasian
+name: obsolete_Caucasian
def: "Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White." []
synonym: "Caucasians" EXACT []
synonym: "Caucasoid" EXACT []
@@ -81875,97 +81901,137 @@ property_value: bioportal:provenance "Whites[accessedResource: NCIt:C41261][acce
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C41261 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43851 xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C48325 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:14045001 xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:413773004 xsd:string
property_value: IAO:0000117 "Jie Zheng" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005
[Term]
id: EFO:0003157
-name: Chinese
+name: obsolete_Chinese
def: "Denotes the inhabitants of China, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43391 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:33897005 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0021
[Term]
id: EFO:0003158
-name: Eastern Indian
+name: obsolete_Eastern Indian
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Ele Holloway" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0487
[Term]
id: EFO:0003159
-name: European-American
+name: obsolete_European-American
property_value: definition:citation http://en.wikipedia.org/wiki/European_American xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005
[Term]
id: EFO:0003160
-name: Filipino
+name: obsolete_Filipino
def: "Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43393 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003152 ! Asian
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0498
[Term]
id: EFO:0003161
-name: Han Chinese
+name: obsolete_Han Chinese
def: "Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)" []
synonym: "CHB" EXACT []
synonym: "Han People" EXACT []
property_value: definition:citation http://en.wikipedia.org/wiki/Han_Chinese xsd:string
property_value: definition:citation http://en.wikipedia.org/wiki/Han_Chinese xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Han Chinese" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003157 ! Chinese
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0027
[Term]
id: EFO:0003162
-name: Iranian
+name: obsolete_Iranian
def: "Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43869 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0438
[Term]
id: EFO:0003163
-name: Irish
+name: obsolete_Irish
def: "Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43856 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0383
[Term]
id: EFO:0003164
-name: Japanese
+name: obsolete_Japanese
def: "Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere." []
synonym: "JPT" EXACT []
property_value: bioportal:provenance "Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43392 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414551003 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003152 ! Asian
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0019
[Term]
id: EFO:0003165
-name: Korean
+name: obsolete_Korean
def: "Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere." []
property_value: bioportal:provenance "Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43395 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0003152 ! Asian
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0022
[Term]
id: EFO:0003166
-name: Latino
+name: obsolete_Latino
def: "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []
synonym: "Hispanic" EXACT []
synonym: "Hispanic or Latino" EXACT []
@@ -81981,33 +82047,45 @@ property_value: bioportal:provenance "Hispanics or Latinos[accessedResource: NCI
property_value: bioportal:provenance "Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C17459 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414408004 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0014
[Term]
id: EFO:0003167
-name: Pima Indian
+name: obsolete_Pima Indian
synonym: "Pima" EXACT []
property_value: bioportal:provenance "Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C44085 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0570
[Term]
id: EFO:0003168
-name: Hawaiian
+name: obsolete_Hawaiian
def: "Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere." []
synonym: "Native Hawaiian" EXACT []
property_value: bioportal:provenance "Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43394 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0573
[Term]
id: EFO:0003169
-name: Hispanic
+name: obsolete_Hispanic
def: "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." []
comment: Tomasz Adamusiak
synonym: "Hispanic or Latino" EXACT []
@@ -82022,9 +82100,13 @@ property_value: bioportal:provenance "Hispanics or Latinos[accessedResource: NCI
property_value: bioportal:provenance "Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: bioportal:provenance "Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]" xsd:string
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C17459 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:414408004 xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0014
[Term]
id: EFO:0003172
@@ -99013,11 +99095,15 @@ is_a: EFO:0001444 ! measurement
[Term]
id: EFO:0004561
-name: African
+name: obsolete_African
def: "Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity." []
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C42331 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "Helen Parkinson" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0010
[Term]
id: EFO:0004562
@@ -102274,28 +102360,36 @@ is_a: EFO:0000618 ! nervous system disease
[Term]
id: EFO:0004900
-name: Yoruba
+name: obsolete_Yoruba
def: "The Yoruba people are one of the largest ethnic groups in West Africa." []
synonym: "YRI" EXACT []
property_value: definition:citation http://en.wikipedia.org/wiki/Yoruba_people xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:440659006 xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
-is_a: EFO:0004561 ! African
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0575
[Term]
id: EFO:0004901
-name: Northern and Western European
+name: obsolete_Northern and Western European
def: "Population of northern and western European ancestry." []
synonym: "CEU" EXACT []
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.101" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Replacement of all EFO ethnic groups by HANCESTRO terms" xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
-is_a: EFO:0001799 ! ethnic group
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://purl.obolibrary.org/obo/HANCESTRO_0005
[Term]
id: EFO:0004902
name: European HapMap cell line
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002933 ! HapMap cell line
-intersection_of: derives_from EFO:0004901 ! Northern and Western European
+intersection_of: derives_from HANCESTRO:0005 ! European
intersection_of: OBI:0000295 EFO:0002924 ! is_input_of HapMap haplotype mapping
relationship: OBI:0000295 EFO:0002924 ! is_input_of HapMap haplotype mapping
@@ -104994,7 +105088,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002009 ! fibroblast derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0005235 ! primitive neuroectodermal tumor
-relationship: RO:0000086 EFO:0003156 ! has_quality Caucasian
+relationship: RO:0000086 HANCESTRO:0005 ! has_quality European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -105021,7 +105115,7 @@ is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0004986 ! embryonal carcinoma
-relationship: RO:0000086 EFO:0003156 ! has_quality Caucasian
+relationship: RO:0000086 HANCESTRO:0005 ! has_quality European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -105041,7 +105135,7 @@ is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0000272 ! astrocytoma
-relationship: RO:0000086 EFO:0003156 ! has_quality Caucasian
+relationship: RO:0000086 HANCESTRO:0005 ! has_quality European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -105377,7 +105471,7 @@ def: "Established from human bone marrow stromal cells transformed by HPV-16 E6/
synonym: "HS-5 cell" EXACT []
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -105387,7 +105481,7 @@ def: "Established from human bone marrow stromal cells transformed by HPV-16 E6/
synonym: "HS-27A cell" EXACT []
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -105769,7 +105863,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0004900 ! Yoruba
+relationship: derives_from HANCESTRO:0575 ! Yoruban
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105780,7 +105874,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105791,7 +105885,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -105802,7 +105896,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -105813,7 +105907,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105824,7 +105918,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -105835,7 +105929,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105846,7 +105940,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -105857,7 +105951,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105868,7 +105962,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105879,7 +105973,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105890,7 +105984,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -105901,7 +105995,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -105912,7 +106006,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105923,7 +106017,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105943,7 +106037,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003161 ! Han Chinese
+relationship: derives_from HANCESTRO:0027 ! Han Chinese
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105954,7 +106048,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003164 ! Japanese
+relationship: derives_from HANCESTRO:0019 ! Japanese
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105965,7 +106059,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0004900 ! Yoruba
+relationship: derives_from HANCESTRO:0575 ! Yoruban
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105976,7 +106070,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0004900 ! Yoruba
+relationship: derives_from HANCESTRO:0575 ! Yoruban
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -105997,7 +106091,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001640 ! B cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -106287,7 +106381,7 @@ is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0005216 ! hepatoma cell line
relationship: bearer_of EFO:0000182 ! hepatocellular carcinoma
-relationship: part_of EFO:0003164 ! Japanese
+relationship: part_of HANCESTRO:0019 ! Japanese
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -107095,10 +107189,11 @@ relationship: RO:0000086 PATO:0000384 {http://www.co-ode.org/patterns#createdBy=
[Term]
id: EFO:0005484
name: 46C {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"}
-def: "46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []
+def: "46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]" []
is_a: CL:0000010 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! cultured cell
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: RO:0000086 PATO:0000384 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! has_quality male
[Term]
@@ -108948,7 +109043,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002883 ! haemopoietic system cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0005292 ! lymphoblastoid cell line
-relationship: derives_from EFO:0003164 ! Japanese
+relationship: derives_from HANCESTRO:0019 ! Japanese
relationship: RO:0000086 PATO:0000383 ! has_quality female
[Term]
@@ -108988,7 +109083,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0005699 ! desmoplastic medulloblastoma
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109050,7 +109145,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0001643 ! kidney derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
-relationship: derives_from EFO:0003156 ! Caucasian
+relationship: derives_from HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109064,7 +109159,7 @@ is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0005216 ! hepatoma cell line
relationship: bearer_of EFO:0000182 ! hepatocellular carcinoma
relationship: develops_from EFO:0005384 ! HuH-7
-relationship: part_of EFO:0003164 ! Japanese
+relationship: part_of HANCESTRO:0019 ! Japanese
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109113,7 +109208,7 @@ is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0001643 ! kidney derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0005708 ! renal cell adenocarcinoma
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109184,7 +109279,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0000756 ! melanoma
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000383 ! has_quality female
[Term]
@@ -109216,7 +109311,7 @@ property_value: http://www.ebi.ac.uk/efo/BTO_definition_citation BTO:0005046 xsd
is_a: BTO:0000256 ! myoblast cell line
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109231,7 +109326,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0005717 ! retinoblastoma (nonhereditary)
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000383 ! has_quality female
[Term]
@@ -109300,7 +109395,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0000756 ! melanoma
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000383 ! has_quality female
[Term]
@@ -109317,7 +109412,7 @@ is_a: EFO:0002886 ! stem cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0005214 ! neuroblastoma cell line
relationship: bearer_of EFO:0000621 ! neuroblastoma
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000383 ! has_quality female
[Term]
@@ -109332,7 +109427,7 @@ is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0002009 ! fibroblast derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
relationship: bearer_of EFO:0002918 ! rhabdomyosarcoma
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109344,7 +109439,7 @@ property_value: definition:citation "http://wiki.encodedcc.org/index.php/Scenari
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002009 ! fibroblast derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -109358,7 +109453,7 @@ property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:12691914
is_a: CL:0000010 ! cultured cell
is_a: EFO:0001639 ! cancer cell line
is_a: EFO:0002888 ! Homo sapiens cell line
-relationship: part_of EFO:0003150 ! African American
+relationship: part_of HANCESTRO:0568 ! African American
relationship: RO:0000086 PATO:0000383 ! has_quality female
[Term]
@@ -109395,7 +109490,7 @@ is_a: EFO:0001641 ! epithelial cell derived cell line
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002891 ! prostate derived cell line
relationship: bearer_of EFO:0000196 ! metastatic prostate cancer
-relationship: part_of EFO:0003156 ! Caucasian
+relationship: part_of HANCESTRO:0005 ! European
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -110881,6 +110976,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: derives_from CL:0000034 ! stem cell
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -110915,6 +111011,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002888 ! Homo sapiens cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000383 ! has_quality female
@@ -110996,6 +111093,7 @@ is_a: CL:0000010 ! cultured cell
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0002926 ! ENCODE cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: derives_from UBERON:0000358 ! blastocyst
relationship: OBI:0000295 EFO:0002925 ! is_input_of ENCODE functional genome mapping
relationship: RO:0000086 PATO:0000384 ! has_quality male
@@ -111044,6 +111142,7 @@ property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -111056,6 +111155,7 @@ property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -111069,6 +111169,7 @@ property_value: IAO:0000117 "Catherine Leroy" xsd:string
is_a: CL:0000010 ! cultured cell
is_a: EFO:0002887 ! mouse cell line
is_a: EFO:0003040 ! embryonic cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: RO:0000086 PATO:0000384 ! has_quality male
[Term]
@@ -111428,6 +111529,7 @@ property_value: http://www.ebi.ac.uk/efo/ATCC_definition_citation ATCC:CRL-1821
property_value: IAO:0000117 "Laura Huerta" xsd:string
is_a: CL:0000010 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! cultured cell
is_a: EFO:0002922 ! normal cell line
+is_a: EFO:0005738 ! ESC derived cell line
relationship: bearer_of PATO:0000461 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! normal
[Term]
@@ -127644,6 +127746,7 @@ def: "Feeder free cell line derived from E14TG2a." []
synonym: "E14TG2a.4" EXACT []
property_value: definition:citation https://www.mmrrc.org/catalog/cellLineSDS.php?mmrrc_id=15890 xsd:string
is_a: CL:0000010 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! cultured cell
+is_a: EFO:0005738 ! ESC derived cell line
relationship: RO:0000086 PATO:0000384 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! has_quality male
[Term]
@@ -137571,8 +137674,9 @@ is_a: OBI:0000070 ! assay
[Term]
id: EFO:0008834
-name: Nuc-seq
+name: nucleosome sequencing
def: "Micrococcal nuclease mapping of nucleosomes (Nuc-seq)" []
+synonym: "Nuc-seq" EXACT []
property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:20512117 xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
is_a: EFO:0001456 ! DNA assay
@@ -137968,8 +138072,9 @@ is_a: OBI:0000711 ! library preparation
[Term]
id: EFO:0008878
-name: RAD
+name: restriction-site associated DNA sequencing
def: "Restriction-site associated DNA (RAD) marker generation" []
+synonym: "RAD" EXACT []
property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:18852878 xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
is_a: EFO:0001456 ! DNA assay
@@ -142569,6 +142674,404 @@ property_value: gwas:trait "true" xsd:boolean
property_value: IAO:0000117 "Joannella Morales" xsd:string
is_a: HP:0000153 ! abnormality of the mouth
+[Term]
+id: EFO:0009337
+name: cell size selection
+def: "filtering process that either includes or excludes cells of a certain diameter using a physical filter" []
+property_value: IAO:0000117 "Dani Welter" xsd:string
+is_a: EFO:0009106 ! sample enrichment
+
+[Term]
+id: EFO:0009338
+name: Epstein-Barr virus early antigen seropositivity
+def: "The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies" []
+synonym: "EBV-EA seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:0000769 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Epstein-Barr virus infection
+
+[Term]
+id: EFO:0009339
+name: Herpes simplex virus 2 seropositivity
+def: "The result of a measurement of circulating Herpes simplex virus 2-specific antibodies" []
+synonym: "HSV2 seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:1002022 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Herpes simplex infection
+
+[Term]
+id: EFO:0009340
+name: Varicella zoster virus seropositivity
+def: "The result of a measurement of circulating Varicella zoster virus-specific antibodies" []
+synonym: "VZV seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:0006509 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Varicella Zoster infection
+
+[Term]
+id: EFO:0009341
+name: Helicobacter pylori seropositivity
+def: "The result of a measurement of circulating Helicobacter pylori-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:1000961 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Helicobacter pylori infectious disease
+
+[Term]
+id: EFO:0009342
+name: Measles virus seropositivity
+def: "The result of a measurement of circulating Measles virus-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:1002025 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about measles
+
+[Term]
+id: EFO:0009343
+name: Mumps virus seropositivity
+def: "The result of a measurement of circulating Mumps virus-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:0007383 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Mumps virus infectious disease
+
+[Term]
+id: EFO:0009344
+name: Rubella virus seropositivity
+def: "The result of a measurement of circulating Rubella virus-specific antibodies" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:1002026 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about rubella
+
+[Term]
+id: EFO:0009345
+name: Hepatitis B virus surface antigen seropositivity
+def: "The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies" []
+synonym: "HBs seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:0004197 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about hepatitis B infection
+
+[Term]
+id: EFO:0009346
+name: Hepatitis B virus core antigen seropositivity
+def: "The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies" []
+synonym: "HBc seropositivity" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0006843 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! infectious disease biomarker
+is_a: EFO:0007034 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! seropositivity measurement
+relationship: IAO:0000136 EFO:0004197 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about hepatitis B infection
+
+[Term]
+id: EFO:0009347
+name: Anti-cytomegalovirus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection" []
+synonym: "CMV IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0001062 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about cytomegalovirus infection
+
+[Term]
+id: EFO:0009348
+name: Anti-Epstein-Barr virus early antigen IgG measurement
+def: "Quantification of antibodies to the Epstein-Barr virus early antigen" []
+synonym: "EBV-EA IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0000769 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Epstein-Barr virus infection
+
+[Term]
+id: EFO:0009349
+name: Anti-herpes simplex virus 1 IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection" []
+synonym: "HSV1 IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:1002022 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Herpes simplex infection
+
+[Term]
+id: EFO:0009350
+name: Anti-herpes simplex virus 2 IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection" []
+synonym: "HSV2 IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:1002022 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Herpes simplex infection
+
+[Term]
+id: EFO:0009351
+name: Anti-varicella zoster virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection" []
+synonym: "VZV IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0006509 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Varicella Zoster infection
+
+[Term]
+id: EFO:0009352
+name: Anti-Helicobacter pylori IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:1000961 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Helicobacter pylori infectious disease
+
+[Term]
+id: EFO:0009353
+name: Anti-Toxoplasma gondii IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0007517 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about toxoplasmosis
+
+[Term]
+id: EFO:0009354
+name: Anti-influenza A virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to influenza A virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+relationship: IAO:0000136 EFO:0001669 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about influenza infection
+
+[Term]
+id: EFO:0009355
+name: Anti-measles virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to measles virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:1002025 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about measles
+
+[Term]
+id: EFO:0009356
+name: Anti-mumps virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to mumps virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0007383 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about Mumps virus infectious disease
+
+[Term]
+id: EFO:0009357
+name: Anti-rubella virus IgG measurement
+def: "Quantification of the IgG antibody isotype produced in response to rubella virus infection" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:1002026 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about rubella
+
+[Term]
+id: EFO:0009358
+name: Anti-hepatitis B virus surface antigen IgG measurement
+def: "Quantification of antibodies to the hepatitis B virus surface antigen" []
+synonym: "HBs IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0004197 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about hepatitis B infection
+
+[Term]
+id: EFO:0009359
+name: Anti-hepatitis B virus core antigen IgG measurement
+def: "Quantification of antibodies to the hepatitis B virus core antigen" []
+synonym: "HBc IgG measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30053915 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0004565 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! serum IgG measurement
+is_a: EFO:0006843 ! infectious disease biomarker
+relationship: IAO:0000136 EFO:0004197 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about hepatitis B infection
+
+[Term]
+id: EFO:0009360
+name: eyelid sagging measurement
+def: "Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist." []
+synonym: "blepharoptosis measurement" EXACT []
+synonym: "dermatochalasis measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29654602 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0007841 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! facial morphology measurement
+relationship: IAO:0000136 HP:0010750 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about dermatochalasis
+
+[Term]
+id: EFO:0009361
+name: colorectal mucinous adenocarcinoma
+def: "An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion." []
+property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C43585 xsd:string
+is_a: EFO:0000365 ! colorectal adenocarcinoma
+
+[Term]
+id: EFO:0009362
+name: nicotine withdrawal measurement
+def: "Quantification of measure of nicotine withdrwawal." []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29532581 xsd:string
+property_value: IAO:0000117 "Joannella Morales" xsd:string
+is_a: EFO:0001444 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! measurement
+
+[Term]
+id: EFO:0009363
+name: chronic central serous retinopathy
+def: "Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life." []
+synonym: "chronic central serous chorioretinopathy" EXACT []
+property_value: http://www.ebi.ac.uk/efo/Wikipedia_definition_citation Wikipedia:Central_serous_retinopathy xsd:string
+is_a: EFO:0003839 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! retinopathy
+
+[Term]
+id: EFO:0009364
+name: non-allergic rhinitis
+def: "Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens." []
+synonym: "nonallergic rhinitis" EXACT []
+is_a: EFO:0008521 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! rhinitis
+
+[Term]
+id: EFO:0009365
+name: vaginal discharge
+def: "Normal or abnormal secretions from the vagina." []
+property_value: gwas:trait "true" xsd:boolean
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0005757 ! vaginal inflammation
+
+[Term]
+id: EFO:0009366
+name: quality of life during menstruation measurement
+def: "A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period." []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29855537 xsd:string
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0001444 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! measurement
+
+[Term]
+id: EFO:0009367
+name: glucose metabolism measurement
+def: "Quantification of a glucose metabolic process." []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29130521 xsd:string
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0006514 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! Alzheimer's disease biomarker measurement
+
+[Term]
+id: EFO:0009368
+name: factor VII activating protease measurement
+def: "Quantification of the amount of factor VII activating protease in a blood sample" []
+synonym: "Factor seven-activating protease measurement" EXACT []
+synonym: "FSAP measurement" EXACT []
+synonym: "Hepatocyte growth factor activator-like protein measurement" EXACT []
+synonym: "Hyaluronan-binding protein 2 measurement" EXACT []
+synonym: "Plasma hyaluronan-binding protein measurement" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30070759 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0007937 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! blood protein measurement
+
+[Term]
+id: EFO:0009369
+name: diffusing capacity of the lung for carbon monoxide
+def: "A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs." []
+synonym: "carbon monoxide diffusing capacity" EXACT []
+synonym: "pulmonary diffusing capacity" EXACT []
+synonym: "transfer factor of the lung for carbon monoxide" EXACT []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:30049742 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0003892 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! pulmonary function measurement
+is_a: EFO:0006841 ! respiratory disease biomarker
+relationship: IAO:0000136 EFO:0000270 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about asthma
+relationship: IAO:0000136 EFO:0000341 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about chronic obstructive pulmonary disease
+relationship: IAO:0000136 EFO:0004244 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about interstitial lung disease
+relationship: IAO:0000136 UBERON:0002048 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! is_about lung
+
+[Term]
+id: EFO:0009370
+name: radon exposure measurement
+def: "Quantification of some aspect of exposure to radon gas" []
+property_value: gwas:trait "true" xsd:string
+property_value: http://www.ebi.ac.uk/efo/PMID_definition_citation PMID:29971594 xsd:string
+property_value: IAO:0000117 "Laura Harris" xsd:string
+is_a: EFO:0008360 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! environmental exposure measurement
+
+[Term]
+id: EFO:0009371
+name: ketogenic diet
+def: "A high-fat, adequate-protein, low-carbohydrate diet. It is primarily used in medicine to treat difficult-to-control epilepsy in children." []
+property_value: gwas:trait "true" xsd:boolean
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0002755 ! diet
+
+[Term]
+id: EFO:0009372
+name: response to ketogenic diet
+def: "The physiological response of an organism to being fed a ketogenic diet." []
+property_value: gwas:trait "true" xsd:boolean
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0005844 ! response to dietary antigen
+
+[Term]
+id: EFO:0009373
+name: edema
+def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." []
+synonym: "Dropsy" EXACT []
+synonym: "Fluid retention" EXACT []
+synonym: "Hydrops" EXACT []
+synonym: "Oedema" EXACT []
+synonym: "Water retention" EXACT []
+property_value: http://www.ebi.ac.uk/efo/HP_definition_citation HP:0000969 xsd:string
+property_value: IAO:0000117 "Annalisa Buniello" xsd:string
+is_a: EFO:0000701 ! skin disease
+
[Term]
id: EFO:1000003
name: Zinc deficiency
@@ -143202,9 +143705,9 @@ id: EFO:1000065
name: Acinar Prostate Mucinous Adenocarcinoma
def: "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." []
property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C5537 xsd:string
+is_a: EFO:0000197 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! mucinous carcinoma
is_a: EFO:0000216 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! acinar cell carcinoma
is_a: EFO:0000673 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! prostate adenocarcinoma
-is_a: EFO:1000387 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! mucinuos carcinoma
relationship: EFO:0000784 CL:0000622 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! has_disease_location acinar cell
[Term]
@@ -145704,11 +146207,12 @@ is_a: EFO:0000503 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.u
[Term]
id: EFO:1000387
-name: mucinuos carcinoma
-synonym: "mucinous adenocarcinoma" EXACT []
-property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:C26712 xsd:string
-property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0007130 xsd:string
-is_a: EFO:0000228 ! adenocarcinoma
+name: obsolete_mucinuos carcinoma
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication\nUse: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma" xsd:string
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.ebi.ac.uk/efo/EFO_0000197
[Term]
id: EFO:1000388
@@ -148057,7 +148561,7 @@ is_a: EFO:1000697 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.u
[Term]
id: EFO:1000672
-name: Bloch-Sulzberger syndrome
+name: obsolete_Bloch-Sulzberger syndrome
def: "a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system." []
synonym: "Bloch-Siemens syndrome" EXACT []
synonym: "Incontinentia pigmenti" EXACT []
@@ -148065,9 +148569,13 @@ synonym: "Incontinentia pigmenti syndrome" EXACT []
synonym: "melanoblastosis cutis" EXACT []
synonym: "nevus pigmentosus systematicus" EXACT []
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:12305 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of Orphanet term\nUse: Orphanet_464 Label: Incontinentia pigmenti" xsd:string
property_value: http://www.ebi.ac.uk/efo/Wikipedia_definition_citation Wikipedia:Incongenita_pigmenti xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:1000755 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! pigmentation disease
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_464
[Term]
id: EFO:1000673
@@ -148517,7 +149025,7 @@ is_a: EFO:1000714 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.u
[Term]
id: EFO:1000716
-name: incontinentia pigmenti achromians
+name: obsolete_incontinentia pigmenti achromians
def: "a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown." []
synonym: "Bloch-Siemans syndrome, nevus of Ito" EXACT []
synonym: "Hypomelanosis of Ito" EXACT []
@@ -148526,8 +149034,12 @@ synonym: "Incontinentia pigmenti syndrome" EXACT []
synonym: "Ito's nevus" EXACT []
property_value: definition:citation http://emedicine.medscape.com/article/1058580-overview xsd:string
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:3156 xsd:string
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Duplication of Orphanet term\nUse: Orphanet:435 Label: Ito hypomelanosis" xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:0000701 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! skin disease
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_435
[Term]
id: EFO:1000717
@@ -151119,7 +151631,7 @@ synonym: "Poroma (Acrospiroma)" EXACT []
property_value: http://www.ebi.ac.uk/efo/DOID_definition_citation DOID:5442 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D018250 xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
-is_a: EFO:0005553 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! eccrine sweat gland cancer
+is_a: EFO:1001204 ! sweat gland neoplasm
[Term]
id: EFO:1000913
@@ -155390,6 +155902,8 @@ property_value: http://www.ebi.ac.uk/efo/NCI_Thesaurus_definition_citation NCIt:
property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:126490003 xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
is_a: EFO:0004198 {http://www.co-ode.org/patterns#createdBy="http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern"} ! skin neoplasm
+intersection_of: EFO:0000616 ! neoplasm
+intersection_of: EFO:0000784 UBERON:0001820 ! has_disease_location sweat gland
[Term]
id: EFO:1001205
@@ -168102,6 +168616,211 @@ relationship: part_of GO:0042060 ! wound healing
created_by: tb
creation_date: 2013-05-29T22:02:52Z
+[Term]
+id: HANCESTRO:0003
+name: country
+def: "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." []
+property_value: IAO:0000119 NCIT:C25464 xsd:string
+is_a: OBI:0000245 ! organization
+
+[Term]
+id: HANCESTRO:0004
+name: ancestry category
+name: ancestry group
+synonym: "ancestral group" EXACT []
+is_a: OBI:0000181 ! population
+
+[Term]
+id: HANCESTRO:0005
+name: European
+def: "Includes individuals who either self-report or have been described by authors as\nEuropean, 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." []
+synonym: "Caucasian" EXACT []
+synonym: "white" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0006
+name: South Asian
+def: "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\nBEB, GIH, ITU, PJL and STU populations." []
+is_a: HANCESTRO:0008 ! Asian
+
+[Term]
+id: HANCESTRO:0008
+name: Asian
+def: "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." []
+synonym: "Asian unspecified" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0009
+name: East Asian
+def: "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." []
+is_a: HANCESTRO:0008 ! Asian
+
+[Term]
+id: HANCESTRO:0010
+name: African
+def: "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." []
+synonym: "African unspecified" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0011
+name: Sub-Saharan African
+def: "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).\nThis 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." []
+is_a: HANCESTRO:0010 ! African
+
+[Term]
+id: HANCESTRO:0013
+name: Native American
+def: "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." []
+synonym: "American Indian" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0014
+name: Hispanic or Latin American
+def: "Includes individuals who either self-report or are described by authors as Hispanic, Latino, Latin American or one of the sub-populations\nfrom 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" []
+property_value: IAO:0000117 "Jackie MacArthur" xsd:string
+property_value: IAO:0000117 "Joannella Morales" xsd:string
+is_a: HANCESTRO:0004 ! ancestry category
+relationship: HANCESTRO:0301 HANCESTRO:0306 ! hasAncestryStatus admixed ancestry
+
+[Term]
+id: HANCESTRO:0015
+name: Greater Middle Eastern (Middle Eastern, North African or Persian)
+def: "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." []
+synonym: "Middle Eastern/North African" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0016
+name: African American or Afro-Caribbean
+def: "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." []
+is_a: HANCESTRO:0004 ! ancestry category
+relationship: HANCESTRO:0301 HANCESTRO:0306 ! hasAncestryStatus admixed ancestry
+
+[Term]
+id: HANCESTRO:0017
+name: Oceanian
+def: "Includes individuals that either self-report or have been described by authors as\nOceanian 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." []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0019
+name: Japanese
+is_a: HANCESTRO:0009 ! East Asian
+relationship: HANCESTRO:0330 http://dbpedia.org/resource/Japan ! isDemonymOf Japan
+
+[Term]
+id: HANCESTRO:0021
+name: Chinese
+is_a: HANCESTRO:0009 ! East Asian
+relationship: HANCESTRO:0330 http://dbpedia.org/resource/China ! isDemonymOf China
+
+[Term]
+id: HANCESTRO:0022
+name: Korean
+is_a: HANCESTRO:0009 ! East Asian
+relationship: HANCESTRO:0330 South:Korea ! isDemonymOf South Korea
+
+[Term]
+id: HANCESTRO:0027
+name: Han Chinese
+is_a: HANCESTRO:0021 ! Chinese
+
+[Term]
+id: HANCESTRO:0290
+name: genetically isolated population
+def: "a population with increased genetic homogeneity and reduced genetic variation due to cultural or geographic isolation" []
+synonym: "founder population" EXACT []
+synonym: "population isolate" EXACT []
+is_a: HANCESTRO:0004 ! ancestry category
+
+[Term]
+id: HANCESTRO:0304
+name: ancestry status
+def: "general characterisation of the ancestry of a population or individual" []
+is_a: BFO:0000019 ! quality
+union_of: HANCESTRO:0305 ! genetically isolated ancestry
+union_of: HANCESTRO:0306 ! admixed ancestry
+
+[Term]
+id: HANCESTRO:0305
+name: genetically isolated ancestry
+def: "Ancestry that is the result of cultural or geographic isolation. Generally characterised by increased genetic homogeneity and reduced genetic variation" []
+is_a: HANCESTRO:0304 ! ancestry status
+
+[Term]
+id: HANCESTRO:0306
+name: admixed ancestry
+def: "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" []
+is_a: HANCESTRO:0304 ! ancestry status
+
+[Term]
+id: HANCESTRO:0383
+name: Irish
+is_a: HANCESTRO:0005 ! European
+relationship: HANCESTRO:0330 http://dbpedia.org/resource/Republic_of_Ireland {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf Republic of Ireland
+
+[Term]
+id: HANCESTRO:0438
+name: Iranian
+is_a: HANCESTRO:0015 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! Greater Middle Eastern (Middle Eastern, North African or Persian)
+relationship: HANCESTRO:0330 http://dbpedia.org/resource/Iran {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf Iran
+
+[Term]
+id: HANCESTRO:0462
+name: British
+is_a: HANCESTRO:0005 ! European
+relationship: HANCESTRO:0330 United:Kingdom {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf United Kingdom
+
+[Term]
+id: HANCESTRO:0463
+name: American
+synonym: "European American" EXACT []
+is_a: HANCESTRO:0005 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! European
+relationship: HANCESTRO:0330 United:States {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf United States
+
+[Term]
+id: HANCESTRO:0487
+name: Indian
+synonym: "Asian Indian" EXACT []
+synonym: "Indian Asian" EXACT []
+is_a: HANCESTRO:0006 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! South Asian
+relationship: HANCESTRO:0330 http://dbpedia.org/resource/India {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf India
+
+[Term]
+id: HANCESTRO:0498
+name: Filipino
+is_a: HANCESTRO:0008 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! Asian
+relationship: HANCESTRO:0330 http://dbpedia.org/resource/Philippines {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! isDemonymOf Philippines
+
+[Term]
+id: HANCESTRO:0568
+name: African American
+is_a: HANCESTRO:0016 ! African American or Afro-Caribbean
+
+[Term]
+id: HANCESTRO:0570
+name: Pima Indian
+is_a: HANCESTRO:0013 ! Native American
+
+[Term]
+id: HANCESTRO:0573
+name: Native Hawaiian
+is_a: HANCESTRO:0017 ! Oceanian
+
+[Term]
+id: HANCESTRO:0574
+name: Pacific Islander
+is_a: HANCESTRO:0017 ! Oceanian
+
+[Term]
+id: HANCESTRO:0575
+name: Yoruban
+is_a: HANCESTRO:0011 ! Sub-Saharan African
+
[Term]
id: HP:0000005
name: mode of inheritance
@@ -171079,6 +171798,17 @@ synonym: "acrochorda" EXACT []
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0037293 xsd:string
is_a: HP:0000951 ! abnormality of the skin
+[Term]
+id: HP:0010750
+name: dermatochalasis
+def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." []
+synonym: "Hooding of eyelids" EXACT []
+property_value: gwas:trait "true" xsd:boolean
+property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT_US:246815009 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0423124 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C2674149 xsd:string
+is_a: HP:0000234 ! Abnormality of the head
+
[Term]
id: HP:0010752
name: Cleft mandible
@@ -202354,6 +203084,7 @@ id: Orphanet:206713
name: Distal spinal muscular atrophy
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:G12.1 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0393541 xsd:string
+is_a: EFO:0008525 ! spinal muscular atrophy
is_a: Orphanet:98505 ! Genetic motor neuron disease
[Term]
@@ -207871,13 +208602,12 @@ is_a: Orphanet:89832 ! Syndromic lymphedema
[Term]
id: Orphanet:2416
-name: Congenital primary lymphedema
-def: "Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." []
-property_value: definition:citation "orphanet" xsd:string
-property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.0 xsd:string
-property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C1704423 xsd:string
-is_a: Orphanet:77240 ! Primary lymphedema
-is_a: Orphanet:98614 ! Conjunctival lymphangiectasia
+name: obsolete_Congenital primary lymphedema
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Following Orphanet obsoletion\nUse: Orphanet:79452 Label: Milroy disease" xsd:string
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_79452
[Term]
id: Orphanet:242
@@ -227308,7 +228038,7 @@ name: Hereditary glaucoma
def: "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." []
property_value: definition:citation "orphanet" xsd:string
is_a: Orphanet:101435 ! Rare genetic eye disease
-is_a: Orphanet:108985 ! Non-syndromic developmental defect of the eye
+is_a: Orphanet:183557 ! Genetic developmental defect of the eye
[Term]
id: Orphanet:35909
@@ -229750,7 +230480,7 @@ synonym: "Epithelial cancer of ovary" EXACT []
synonym: "Ovarian epithelial cancer" EXACT []
synonym: "Ovarian malignant epithelial tumor" EXACT []
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:C56 xsd:string
-is_a: EFO:0001075 ! ovarian carcinoma
+is_a: EFO:0003893 ! ovarian neoplasm
[Term]
id: Orphanet:399
@@ -231036,12 +231766,14 @@ is_a: Orphanet:238666 ! Isolated congenital hypogonadotropic hypogonadism
[Term]
id: Orphanet:435
name: Ito hypomelanosis
+def: "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." []
synonym: "HI syndrome" EXACT []
synonym: "Hypomelanosis of Ito" EXACT []
synonym: "Incontinentia pigmenti type 1" EXACT []
synonym: "Pigmentary mosaicism, Ito type" EXACT []
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q87.8 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:300337 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0022283 xsd:string
is_a: Orphanet:166466 ! Neurocutaneous syndrome with epilepsy
is_a: Orphanet:183469 ! Genetic hypopigmentation of the skin
is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome
@@ -231341,6 +232073,9 @@ property_value: definition:citation "orphanet" xsd:string
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.3 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D007184 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:308300 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0021171 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0022283 xsd:string
+property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C2930820 xsd:string
is_a: Orphanet:166466 ! Neurocutaneous syndrome with epilepsy
is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome
is_a: Orphanet:98464 ! X-linked syndromic intellectual disability
@@ -234506,7 +235241,7 @@ is_a: EFO:0005815 ! tauopathy
is_a: EFO:1001380 ! Niemann-Pick disease
is_a: Orphanet:183500 ! Genetic neurodegenerative disease
is_a: Orphanet:68385 ! Neurometabolic disease
-is_a: Orphanet:79204 ! Lipid storage disease
+is_a: Orphanet:79225 ! Sphingolipidosis
is_a: Orphanet:98666 ! Unclassified primitive or secondary maculopathy
is_a: Orphanet:98687 ! Supranuclear oculomotor palsy
@@ -235824,6 +236559,7 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:253300 xs
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:253400 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:253550 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:271150 xsd:string
+is_a: EFO:0008525 ! spinal muscular atrophy
is_a: Orphanet:98497 ! Genetic peripheral neuropathy
is_a: Orphanet:98505 ! Genetic motor neuron disease
@@ -237229,7 +237965,6 @@ property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0003076
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C2931795 xsd:string
is_a: Orphanet:98554 ! Major induction processes eye anomaly
is_a: Orphanet:98634 ! Iridogoniodysgenesis
-is_a: Orphanet:98641 ! Syndromic cataract
[Term]
id: Orphanet:772
@@ -237662,8 +238397,8 @@ property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D012175 xsd
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:180200 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0035335 xsd:string
is_a: EFO:0003824 ! eye neoplasm
-is_a: Orphanet:183619 ! Genetic eye tumor
-is_a: Orphanet:98657 ! Genetic vitreous-retinal disease
+is_a: EFO:0003839 ! retinopathy
+is_a: EFO:0005950 ! head and neck neoplasia
[Term]
id: Orphanet:79022
@@ -238437,7 +239172,7 @@ id: Orphanet:79204
name: Lipid storage disease
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:E75.5 xsd:string
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:E75.6 xsd:string
-is_a: Orphanet:79225 ! Sphingolipidosis
+is_a: Orphanet:68366 ! Lysosomal disease
[Term]
id: Orphanet:79207
@@ -238521,7 +239256,7 @@ property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:E75.3 x
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D013106 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D013106 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0037899 xsd:string
-is_a: Orphanet:68366 ! Lysosomal disease
+is_a: Orphanet:79204 ! Lipid storage disease
[Term]
id: Orphanet:79226
@@ -239627,7 +240362,7 @@ name: Lymphedema
property_value: http://www.ebi.ac.uk/efo/MedDRA_definition_citation MedDRA:10025282 xsd:string
property_value: http://www.ebi.ac.uk/efo/MSH_definition_citation MSH:D008209 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C0024236 xsd:string
-is_a: Orphanet:68346 ! Rare genetic skin disease
+is_a: EFO:0000701 ! skin disease
[Term]
id: Orphanet:79385
@@ -240013,18 +240748,19 @@ is_a: Orphanet:294060 ! Multiple pterygium syndrome
[Term]
id: Orphanet:79450
-name: Non hereditary congenital primary lymphedema
-def: ")." []
-synonym: "Milroy-like disease" EXACT []
-property_value: definition:citation "orphanet" xsd:string
-property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.0 xsd:string
-is_a: Orphanet:2416 ! Congenital primary lymphedema
+name: obsolete_Non hereditary congenital primary lymphedema
+property_value: http://www.ebi.ac.uk/efo/obsoleted_in_version "2.100" xsd:decimal
+property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "Following Orphanet obsoleting\nUse: Orphanet_79452 Label: Milroy disease" xsd:string
+property_value: organizational:class "true" xsd:boolean
+is_obsolete: true
+replaced_by: http://www.orpha.net/ORDO/Orphanet_79452
[Term]
id: Orphanet:79452
name: Milroy disease
def: "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." []
synonym: "Hereditary lymphedema type I" EXACT []
+synonym: "Milroy-like disease" EXACT []
synonym: "Nonne-Milroy lymphedema" EXACT []
property_value: definition:citation "orphanet" xsd:string
property_value: http://www.ebi.ac.uk/efo/ICD10_definition_citation ICD10:Q82.0 xsd:string
@@ -240034,7 +240770,9 @@ property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:611944 xs
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:613480 xsd:string
property_value: http://www.ebi.ac.uk/efo/OMIM_definition_citation OMIM:615907 xsd:string
property_value: http://www.ebi.ac.uk/efo/UMLS_definition_citation UMLS:C1704423 xsd:string
-is_a: Orphanet:2416 ! Congenital primary lymphedema
+is_a: Orphanet:77240 ! Primary lymphedema
+is_a: Orphanet:79452 ! Milroy disease
+is_a: Orphanet:98614 ! Conjunctival lymphangiectasia
[Term]
id: Orphanet:79458
@@ -254630,6 +255368,12 @@ property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:6
property_value: IAO:0000117 "SO editors" xsd:string
is_a: BFO:0000040 ! material entity
+[Term]
+id: South:Korea
+name: South Korea
+synonym: "Republic of Korea" EXACT []
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
[Term]
id: TO:0000259
name: heat tolerance
@@ -276077,6 +276821,18 @@ property_value: http://www.ebi.ac.uk/efo/SNOMEDCT_definition_citation SNOMEDCT:2
property_value: IAO:0000117 "george gkoutos" xsd:string
is_a: UO:0000182 ! density unit
+[Term]
+id: United:Kingdom
+name: United Kingdom
+synonym: "U.K." EXACT []
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
+[Term]
+id: United:States
+name: United States
+synonym: "U.S." EXACT []
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
[Term]
id: WBls:0000003
name: embryo Ce
@@ -276468,6 +277224,38 @@ property_value: http://www.ebi.ac.uk/efo/ZFA_definition_citation ZFA:0009150 xsd
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
is_a: EFO:0003331 ! zebrafish component
+[Term]
+id: http://dbpedia.org/resource/China
+name: China
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
+[Term]
+id: http://dbpedia.org/resource/India
+name: India
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
+[Term]
+id: http://dbpedia.org/resource/Iran
+name: Iran
+synonym: "Iran (Islamic Republic of)" EXACT []
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
+[Term]
+id: http://dbpedia.org/resource/Japan
+name: Japan
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
+[Term]
+id: http://dbpedia.org/resource/Philippines
+name: Philippines
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
+[Term]
+id: http://dbpedia.org/resource/Republic_of_Ireland
+name: Republic of Ireland
+synonym: "Ireland" EXACT []
+is_a: HANCESTRO:0003 {http://www.co-ode.org/patterns#createdBy="http://e-lico.eu/populous#OPPL_pattern"} ! country
+
[Typedef]
id: BFO:0000066
name: occurs in
@@ -276531,6 +277319,19 @@ is_a: EFO:0000824 ! relationship
id: EFO:0006351
name: has_about_it
+[Typedef]
+id: HANCESTRO:0301
+name: hasAncestryStatus
+
+[Typedef]
+id: HANCESTRO:0329
+name: hasDemonym
+inverse_of: HANCESTRO:0330 ! isDemonymOf
+
+[Typedef]
+id: HANCESTRO:0330
+name: isDemonymOf
+
[Typedef]
id: IAO:0000136
name: is_about
diff --git a/efo_inferred.owl b/efo_inferred.owl
index f83ba0b3..c5b55d00 100644
--- a/efo_inferred.owl
+++ b/efo_inferred.owl
@@ -19,7 +19,7 @@
xmlns:foaf="http://xmlns.com/foaf/0.1/"
xmlns:dc="http://purl.org/dc/elements/1.1/">
-
+
Gautier Koscielny
Helen Parkinson
Natalja Kurbatova
@@ -33,11 +33,11 @@ License.
Sirarat Sarntivijai
Paola Roncaglia
Jon Ison
+ 2018-10-15
Eleanor Williams
Simon Jupp
Zoe May Pendlington
Dani Welter
- 2018-09-17
1.4
Catherine Leroy
Drashtti Vasant
@@ -45,7 +45,7 @@ License.
Ele Holloway
Tomasz Adamusiak
Trish Whetzel
- 2.100
+ 2.101
@@ -127,6 +127,12 @@ License.
+
+
+
+
+
+
@@ -1975,6 +1981,92 @@ This annotation property may be replaced with an annotation property from an ext
+
+
+
+
+ China
+
+
+
+
+
+
+
+
+ India
+
+
+
+
+
+
+
+
+ Iran (Islamic Republic of)
+ Iran
+
+
+
+
+
+
+
+
+ Japan
+
+
+
+
+
+
+
+
+ Philippines
+
+
+
+
+
+
+
+
+ Ireland
+ Republic of Ireland
+
+
+
+
+
+
+
+
+ Republic of Korea
+ South Korea
+
+
+
+
+
+
+
+
+ U.K.
+ United Kingdom
+
+
+
+
+
+
+
+
+ U.S.
+ United States
+
+
+
+
@@ -74934,6 +75026,332 @@ The process by which a callus is formed at a wound site. A plant callus is a por
+
+
+
+
+ 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
+ ancestry group
+
+
+
+
+
+
+
+
+ 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 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, 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
+
+
+
+
+
+
+
+
+ Japanese
+
+
+
+
+
+
+
+
+ Chinese
+
+
+
+
+
+
+
+
+ Korean
+
+
+
+
+
+
+
+
+ Han Chinese
+
+
+
+
+
+
+
+
+ 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 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
+
+
+
+
+
+
+
+
+ Irish
+
+
+
+
+
+
+
+
+ Iranian
+
+
+
+
+
+
+
+
+ British
+
+
+
+
+
+
+
+
+ European American
+ American
+
+
+
+
+
+
+
+
+ Asian Indian
+ Indian Asian
+ Indian
+
+
+
+
+
+
+
+
+ Filipino
+
+
+
+
+
+
+
+
+ African American
+
+
+
+
+
+
+
+
+ Pima Indian
+
+
+
+
+
+
+
+
+ Native Hawaiian
+
+
+
+
+
+
+
+
+ Pacific Islander
+
+
+
+
+
+
+
+
+ Yoruban
+
+
+
+
@@ -82027,6 +82445,21 @@ SOURCE COMMENT: A good starting point for evaluating hypoglycemia is to divide p
+
+
+
+
+ Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.
+ SNOMEDCT_US:246815009
+ UMLS:C0423124
+ UMLS:C2674149
+ Hooding of eyelids
+ true
+ dermatochalasis
+
+
+
+
@@ -183269,13 +183702,14 @@ New Label : MELAS syndrome
-
+
An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.
James Malone
Sirarat Sarntivijai
DOID:3030
NCIt:C26712
SNOMEDCT:72495009
+ UMLS:C0007130
adenocarcinoma, mucinous, malignant
colloid adenocarcinoma
colloid carcinoma
@@ -189197,7 +189631,7 @@ label: colon
-
+
An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
James Malone
DOID:3029
@@ -209017,7 +209451,7 @@ label: penis
-
+
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
James Malone
Tomasz Adamusiak
@@ -220567,9 +221001,10 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp
-
+ A cell line of epithelial morphology derived from adult human brain.
Ele Holloway
James Malone
+ https://www.atcc.org/products/all/HTB-148.aspx#generalinformation
H4
@@ -233297,9 +233732,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0568
NCIt:C16352
SNOMEDCT:15086000
Afro American
@@ -233311,7 +233747,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
BLACK OR AFRICAN AMERICAN[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
- African American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_African American
@@ -233319,10 +233758,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0463
UMLS:C0596070
- American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_American
@@ -233330,15 +233773,19 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
Jie Zheng
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0008
NCIt:C41260
Asians
Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
- Asian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian
@@ -233346,9 +233793,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0487
NCIt:C41262
SNOMEDCT:414481008
Asian Indians
@@ -233357,7 +233805,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Asian Indians[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
- Asian Indian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian Indian
@@ -233365,14 +233816,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0574
NCIt:C41219
Native Hawaiian or Other Pacific Islander
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
- Asian/Pacific Islander
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian/Pacific Islander
@@ -233380,10 +233835,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0462
UMLS:C0596227
- British
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_British
@@ -233391,10 +233850,11 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.
Jie Zheng
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
NCIt:C41261
NCIt:C43851
NCIt:C48325
@@ -233412,7 +233872,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Occidental[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
White[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Whites[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
- Caucasian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Caucasian
@@ -233420,13 +233883,17 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0021
NCIt:C43391
SNOMEDCT:33897005
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011]
- Chinese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Chinese
@@ -233434,9 +233901,13 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Ele Holloway
- Eastern Indian
+ http://purl.obolibrary.org/obo/HANCESTRO_0487
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Eastern Indian
@@ -233444,10 +233915,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
http://en.wikipedia.org/wiki/European_American
- European-American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_European-American
@@ -233455,12 +233930,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0498
NCIt:C43393
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011]
- Filipino
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Filipino
@@ -233468,15 +233947,19 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)
Han Chinese
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0027
CHB
Han People
http://en.wikipedia.org/wiki/Han_Chinese
http://en.wikipedia.org/wiki/Han_Chinese
- Han Chinese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Han Chinese
@@ -233484,12 +233967,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0438
NCIt:C43869
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011]
- Iranian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Iranian
@@ -233497,12 +233984,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0383
NCIt:C43856
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011]
- Irish
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Irish
@@ -233510,14 +234001,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0019
NCIt:C43392
SNOMEDCT:414551003
JPT
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011]
- Japanese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Japanese
@@ -233525,12 +234020,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0022
NCIt:C43395
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011]
- Korean
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Korean
@@ -233538,9 +234037,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0014
NCIt:C17459
SNOMEDCT:414408004
Hispanic
@@ -233556,7 +234056,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
- Latino
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Latino
@@ -233564,12 +234067,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0570
NCIt:C44085
Pima
Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011]
- Pima Indian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Pima Indian
@@ -233577,14 +234084,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0573
NCIt:C43394
Native Hawaiian
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
- Hawaiian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Hawaiian
@@ -233592,9 +234103,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0014
NCIt:C17459
SNOMEDCT:414408004
Hispanic Populations
@@ -233608,8 +234120,11 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
Tomasz Adamusiak
- Hispanic
+ obsolete_Hispanic
@@ -255485,11 +256000,15 @@ New Label : Bronchopulmonary dysplasia
-
+
Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.
Helen Parkinson
+ http://purl.obolibrary.org/obo/HANCESTRO_0010
NCIt:C42331
- African
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_African
@@ -259555,13 +260074,17 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
The Yoruba people are one of the largest ethnic groups in West Africa.
James Malone
+ http://purl.obolibrary.org/obo/HANCESTRO_0575
SNOMEDCT:440659006
YRI
http://en.wikipedia.org/wiki/Yoruba_people
- Yoruba
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Yoruba
@@ -259569,11 +260092,15 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
Population of northern and western European ancestry.
James Malone
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
CEU
- Northern and Western European
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Northern and Western European
@@ -266233,13 +266760,14 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
- 46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
+
+ 46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
46C
- 46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
+ 46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
http://e-lico.eu/populous#OPPL_pattern
@@ -271845,6 +272373,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA.
Catherine Leroy
ELF-1 cell
@@ -271873,6 +272402,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
Undifferentiated embryonic stem cells
Catherine Leroy
NCIt:C20309
@@ -271969,6 +272499,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
The clonal embryonic stem cell line ES-D3 was derived from blastocysts of a male 129S2/SvPas strain mouse. The cells spontaneously differentiate into embryonic structures in the absence of a feeder layer or conditioned medium.
Catherine Leroy
PMID: 3897439
@@ -272017,6 +272548,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
ZHBTc4 undifferentiated mouse embryonic stem cells originated from a male mouse of the 129/Ola strain, and received as frozen ampoules from D. Levasseur (University of Iowa). These cells lack functional endogenous Oct4 alleles and harbor a regulatable Oct4 transgene.
Catherine Leroy
ZHBTc4
@@ -272034,6 +272566,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains.
Catherine Leroy
PMID:7638196
@@ -272048,6 +272581,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993.
Catherine Leroy
PMID:8224839
@@ -272651,6 +273185,7 @@ A malignant neoplasm of the lymphatic system that is comprised of abnormal lymph
+
This is a derivative of one of several mouse embryonal stem cell (ES) lines developed by M. Hooper in 1987.
Laura Huerta
ATCC:CRL-1821
@@ -319958,7 +320493,7 @@ Diabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 ma
-
+
Feeder free cell line derived from E14TG2a.
E14TG2a.4
https://www.mmrrc.org/catalog/cellLineSDS.php?mmrrc_id=15890
@@ -343367,7 +343902,8 @@ label: granulocyte colony-stimulating factor measurementMicrococcal nuclease mapping of nucleosomes (Nuc-seq)
Dani Welter
PMID:20512117
- Nuc-seq
+ Nuc-seq
+ nucleosome sequencing
@@ -343896,7 +344432,8 @@ label: granulocyte colony-stimulating factor measurementRestriction-site associated DNA (RAD) marker generation
Dani Welter
PMID:18852878
- RAD
+ RAD
+ restriction-site associated DNA sequencing
@@ -355812,6 +356349,1347 @@ to hypernasality and abnormal speech reduction.
+
+
+
+
+ filtering process that either includes or excludes cells of a certain diameter using a physical filter
+ Dani Welter
+ cell size selection
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ EBV-EA seropositivity
+ true
+ Epstein-Barr virus early antigen seropositivity
+
+
+
+
+ The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ EBV-EA seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Herpes simplex virus 2-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HSV2 seropositivity
+ true
+ Herpes simplex virus 2 seropositivity
+
+
+
+
+ The result of a measurement of circulating Herpes simplex virus 2-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV2 seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Varicella zoster virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ VZV seropositivity
+ true
+ Varicella zoster virus seropositivity
+
+
+
+
+ The result of a measurement of circulating Varicella zoster virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ VZV seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Helicobacter pylori-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Helicobacter pylori seropositivity
+
+
+
+
+ The result of a measurement of circulating Helicobacter pylori-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Measles virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Measles virus seropositivity
+
+
+
+
+ The result of a measurement of circulating Measles virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Mumps virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Mumps virus seropositivity
+
+
+
+
+ The result of a measurement of circulating Mumps virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Rubella virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Rubella virus seropositivity
+
+
+
+
+ The result of a measurement of circulating Rubella virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HBs seropositivity
+ true
+ Hepatitis B virus surface antigen seropositivity
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBs seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HBc seropositivity
+ true
+ Hepatitis B virus core antigen seropositivity
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBc seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection
+ Laura Harris
+ PMID:30053915
+ CMV IgG measurement
+ true
+ Anti-cytomegalovirus IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ CMV IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the Epstein-Barr virus early antigen
+ Laura Harris
+ PMID:30053915
+ EBV-EA IgG measurement
+ true
+ Anti-Epstein-Barr virus early antigen IgG measurement
+
+
+
+
+ Quantification of antibodies to the Epstein-Barr virus early antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ EBV-EA IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection
+ Laura Harris
+ PMID:30053915
+ HSV1 IgG measurement
+ true
+ Anti-herpes simplex virus 1 IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV1 IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection
+ Laura Harris
+ PMID:30053915
+ HSV2 IgG measurement
+ true
+ Anti-herpes simplex virus 2 IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV2 IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection
+ Laura Harris
+ PMID:30053915
+ VZV IgG measurement
+ true
+ Anti-varicella zoster virus IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ VZV IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-Helicobacter pylori IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-Toxoplasma gondii IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to influenza A virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-influenza A virus IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to influenza A virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to measles virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-measles virus IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to measles virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to mumps virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-mumps virus IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to mumps virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to rubella virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-rubella virus IgG measurement
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to rubella virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus surface antigen
+ Laura Harris
+ PMID:30053915
+ HBs IgG measurement
+ true
+ Anti-hepatitis B virus surface antigen IgG measurement
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus surface antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBs IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus core antigen
+ Laura Harris
+ PMID:30053915
+ HBc IgG measurement
+ true
+ Anti-hepatitis B virus core antigen IgG measurement
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus core antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBc IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.
+ Laura Harris
+ PMID:29654602
+ blepharoptosis measurement
+ dermatochalasis measurement
+ true
+ eyelid sagging measurement
+
+
+
+
+ Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29654602
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ blepharoptosis measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ dermatochalasis measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion.
+ NCIt:C43585
+ colorectal mucinous adenocarcinoma
+
+
+
+
+
+
+
+
+ Quantification of measure of nicotine withdrwawal.
+ Joannella Morales
+ PMID:29532581
+ true
+ nicotine withdrawal measurement
+
+
+
+
+ Quantification of measure of nicotine withdrwawal.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Joannella Morales
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29532581
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.
+ Wikipedia:Central_serous_retinopathy
+ chronic central serous chorioretinopathy
+ chronic central serous retinopathy
+
+
+
+
+ Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Wikipedia:Central_serous_retinopathy
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ chronic central serous chorioretinopathy
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens.
+ nonallergic rhinitis
+ non-allergic rhinitis
+
+
+
+
+ Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ nonallergic rhinitis
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Normal or abnormal secretions from the vagina.
+ Annalisa Buniello
+ true
+ vaginal discharge
+
+
+
+
+
+
+
+
+ A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period.
+ Annalisa Buniello
+ PMID:29855537
+ true
+ quality of life during menstruation measurement
+
+
+
+
+ A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Annalisa Buniello
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29855537
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of a glucose metabolic process.
+ Annalisa Buniello
+ PMID:29130521
+ true
+ glucose metabolism measurement
+
+
+
+
+ Quantification of a glucose metabolic process.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Annalisa Buniello
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29130521
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of the amount of factor VII activating protease in a blood sample
+ Laura Harris
+ PMID:30070759
+ FSAP measurement
+ Factor seven-activating protease measurement
+ Hepatocyte growth factor activator-like protein measurement
+ Hyaluronan-binding protein 2 measurement
+ Plasma hyaluronan-binding protein measurement
+ true
+ factor VII activating protease measurement
+
+
+
+
+ Quantification of the amount of factor VII activating protease in a blood sample
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30070759
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Hyaluronan-binding protein 2 measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+ A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.
+ Laura Harris
+ PMID:30049742
+ carbon monoxide diffusing capacity
+ pulmonary diffusing capacity
+ transfer factor of the lung for carbon monoxide
+ true
+ diffusing capacity of the lung for carbon monoxide
+
+
+
+
+ A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30049742
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ pulmonary diffusing capacity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of some aspect of exposure to radon gas
+ Laura Harris
+ PMID:29971594
+ true
+ radon exposure measurement
+
+
+
+
+ Quantification of some aspect of exposure to radon gas
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29971594
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ A high-fat, adequate-protein, low-carbohydrate diet. It is primarily used in medicine to treat difficult-to-control epilepsy in children.
+ Annalisa Buniello
+ true
+ ketogenic diet
+
+
+
+
+
+
+
+
+ The physiological response of an organism to being fed a ketogenic diet.
+ Annalisa Buniello
+ true
+ response to ketogenic diet
+
+
+
+
+
+
+
+
+ An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
+ Annalisa Buniello
+ HP:0000969
+ Dropsy
+ Fluid retention
+ Hydrops
+ Oedema
+ Water retention
+ edema
+
+
+
+
@@ -358017,9 +359895,9 @@ Label : Disorder of carbohydrate metabolism
+
-
A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.
NCIt:C5537
Acinar Prostate Mucinous Adenocarcinoma
@@ -365676,11 +367554,13 @@ Label : malignant epithelioid mesothelioma
-
- NCIt:C26712
- UMLS:C0007130
- mucinous adenocarcinoma
- mucinuos carcinoma
+
+ http://www.ebi.ac.uk/efo/EFO_0000197
+ 2.100
+ true
+ Duplication
+Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
+ obsolete_mucinuos carcinoma
@@ -372710,9 +374590,10 @@ These disorders are common in people of all ages and races. They are characteriz
-
+
a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.
Sirarat Sarntivijai
+ http://www.orpha.net/ORDO/Orphanet_464
DOID:12305
Wikipedia:Incongenita_pigmenti
Bloch-Siemens syndrome
@@ -372720,7 +374601,11 @@ These disorders are common in people of all ages and races. They are characteriz
Incontinentia pigmenti syndrome
melanoblastosis cutis
nevus pigmentosus systematicus
- Bloch-Sulzberger syndrome
+ 2.100
+ true
+ Duplication of Orphanet term
+Use: Orphanet_464 Label: Incontinentia pigmenti
+ obsolete_Bloch-Sulzberger syndrome
@@ -374466,9 +376351,10 @@ These disorders are common in people of all ages and races. They are characteriz
-
+
a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown.
Sirarat Sarntivijai
+ http://www.orpha.net/ORDO/Orphanet_435
DOID:3156
Bloch-Siemans syndrome, nevus of Ito
Hypomelanosis of Ito
@@ -374476,7 +376362,11 @@ These disorders are common in people of all ages and races. They are characteriz
Incontinentia pigmenti syndrome
Ito's nevus
http://emedicine.medscape.com/article/1058580-overview
- incontinentia pigmenti achromians
+ 2.100
+ true
+ Duplication of Orphanet term
+Use: Orphanet:435 Label: Ito hypomelanosis
+ obsolete_incontinentia pigmenti achromians
@@ -386219,7 +388109,7 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu
-
+
A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.
Sirarat Sarntivijai
DOID:5442
@@ -456172,6 +458062,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
ICD10:G12.1
UMLS:C0393541
@@ -464245,13 +466136,13 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
-
- Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings.
- ICD10:Q82.0
- UMLS:C1704423
- orphanet
- Congenital primary lymphedema
+
+ http://www.orpha.net/ORDO/Orphanet_79452
+ 2.100
+ true
+ Following Orphanet obsoletion
+Use: Orphanet:79452 Label: Milroy disease
+ obsolete_Congenital primary lymphedema
@@ -465996,6 +467887,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
ICD10:Q13.1
@@ -493135,7 +495027,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
orphanet
Hereditary glaucoma
@@ -496753,7 +498645,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:C56
Epithelial cancer of ovary
Ovarian epithelial cancer
@@ -498860,8 +500752,10 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+ Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
ICD10:Q87.8
OMIM:300337
+ UMLS:C0022283
HI syndrome
Hypomelanosis of Ito
Incontinentia pigmenti type 1
@@ -499266,6 +501160,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
ICD10:Q82.3
MSH:D007184
OMIM:308300
+ UMLS:C0021171
+ UMLS:C0022283
+ UMLS:C2930820
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
orphanet
@@ -501879,6 +503776,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
MSH:C537550
OMIM:156600
@@ -503671,7 +505569,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:E75.2
@@ -505545,6 +507443,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
@@ -505775,6 +507674,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
@@ -507554,7 +509454,6 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).
ICD10:Q13.1
MSH:C538293
@@ -508095,6 +509994,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
@@ -508184,8 +510084,8 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
-
+
+
Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms).
ICD10:C69.2
MSH:D012175
@@ -509356,7 +511256,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:E75.5
ICD10:E75.6
Lipid storage disease
@@ -509465,7 +511365,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
DOID:1927
ICD10:E75.0
@@ -510947,7 +512847,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
MSH:D008209
MedDRA:10025282
UMLS:C0024236
@@ -511481,12 +513381,13 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
- ).
- ICD10:Q82.0
- Milroy-like disease
- orphanet
- Non hereditary congenital primary lymphedema
+
+ http://www.orpha.net/ORDO/Orphanet_79452
+ 2.100
+ true
+ Following Orphanet obsoleting
+Use: Orphanet_79452 Label: Milroy disease
+ obsolete_Non hereditary congenital primary lymphedema
@@ -511494,7 +513395,8 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
+
Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
ICD10:Q82.0
OMIM:153100
@@ -511504,6 +513406,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
OMIM:615907
UMLS:C1704423
Hereditary lymphedema type I
+ Milroy-like disease
Nonne-Milroy lymphedema
orphanet
Milroy disease
@@ -518006,6 +519909,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
ICD10:Q15.8
OMIM:309300
@@ -518018,6 +519922,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
ICD10:Q13.3
OMIM:181700
@@ -518029,6 +519934,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
ICD10:Q10.1
Congenital ectropion uveae
@@ -524697,6 +526603,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
Syndromic aniridia
@@ -530489,6 +532396,15 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
arterial supply of
FMA:86003
+
+ hasAncestryStatus
+
+
+ hasDemonym
+
+
+ isDemonymOf
+
is_about
@@ -530549,9 +532465,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
RO:0002082
uberon
+ simultaneous_with
simultaneous_with
Relation between occurrents, shares start and end boundaries.
- simultaneous_with
coincides_with
simultaneous_with
is_equal_to
diff --git a/efo_inferred_all.owl b/efo_inferred_all.owl
index 5f384abf..5e3819e7 100644
--- a/efo_inferred_all.owl
+++ b/efo_inferred_all.owl
@@ -19,7 +19,7 @@
xmlns:foaf="http://xmlns.com/foaf/0.1/"
xmlns:dc="http://purl.org/dc/elements/1.1/">
-
+
Gautier Koscielny
Helen Parkinson
Natalja Kurbatova
@@ -33,11 +33,11 @@ License.
Sirarat Sarntivijai
Paola Roncaglia
Jon Ison
+ 2018-10-15
Eleanor Williams
Simon Jupp
Zoe May Pendlington
Dani Welter
- 2018-09-17
1.4
Catherine Leroy
Drashtti Vasant
@@ -45,7 +45,7 @@ License.
Ele Holloway
Tomasz Adamusiak
Trish Whetzel
- 2.100
+ 2.101
@@ -127,6 +127,12 @@ License.
+
+
+
+
+
+
@@ -2315,6 +2321,31 @@ This annotation property may be replaced with an annotation property from an ext
+
+
+
+ hasAncestryStatus
+
+
+
+
+
+
+
+
+ hasDemonym
+
+
+
+
+
+
+
+ isDemonymOf
+
+
+
+
@@ -2912,6 +2943,146 @@ This annotation property may be replaced with an annotation property from an ext
+
+
+
+
+ China
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ India
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Iran (Islamic Republic of)
+ Iran
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Japan
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Philippines
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Ireland
+ Republic of Ireland
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Republic of Korea
+ South Korea
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ U.K.
+ United Kingdom
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ U.S.
+ United States
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
@@ -15986,12 +16157,6 @@ Established melanoma cell line from the Skin Cancer Unit at the German Cancer Re
indole-3-carboxylic acid
indole-3-carboxylic acid
-
-
-
- indole-3-carboxylic acid
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -16016,6 +16181,12 @@ Established melanoma cell line from the Skin Cancer Unit at the German Cancer Re
indole-3-carboxylic acid
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+ indole-3-carboxylic acid
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
@@ -118490,6 +118661,502 @@ The process by which a callus is formed at a wound site. A plant callus is a por
+
+
+
+
+ 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
+ ancestry group
+
+
+
+
+
+
+
+
+ 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 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, 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
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Japanese
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Chinese
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Korean
+
+
+
+
+
+
+
+
+ Han Chinese
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ 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 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
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Irish
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Iranian
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ British
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ European American
+ American
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Asian Indian
+ Indian Asian
+ Indian
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Filipino
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://e-lico.eu/populous#OPPL_pattern
+
+
+
+
+
+
+
+
+ African American
+
+
+
+
+
+
+
+
+ Pima Indian
+
+
+
+
+
+
+
+
+ Native Hawaiian
+
+
+
+
+
+
+
+
+ Pacific Islander
+
+
+
+
+
+
+
+
+ Yoruban
+
+
+
+
@@ -127624,6 +128291,21 @@ SOURCE COMMENT: A good starting point for evaluating hypoglycemia is to divide p
+
+
+
+
+ Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.
+ SNOMEDCT_US:246815009
+ UMLS:C0423124
+ UMLS:C2674149
+ Hooding of eyelids
+ true
+ dermatochalasis
+
+
+
+
@@ -237963,13 +238645,14 @@ New Label : MELAS syndrome
-
+
An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.
James Malone
Sirarat Sarntivijai
DOID:3030
NCIt:C26712
SNOMEDCT:72495009
+ UMLS:C0007130
adenocarcinoma, mucinous, malignant
colloid adenocarcinoma
colloid carcinoma
@@ -244263,7 +244946,7 @@ label: colon
-
+
@@ -265204,7 +265887,7 @@ label: penis
-
+
@@ -286970,7 +287653,6 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp
-
@@ -286983,7 +287665,7 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp
-
+
@@ -286997,8 +287679,10 @@ A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymp
+ A cell line of epithelial morphology derived from adult human brain.
Ele Holloway
James Malone
+ https://www.atcc.org/products/all/HTB-148.aspx#generalinformation
H4
@@ -289382,7 +290066,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma.
-
+
@@ -292075,7 +292759,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma.
-
+
@@ -293128,7 +293812,7 @@ A Jiyoye is bearer of a Burkitt's lymphoma.
-
+
@@ -301860,7 +302544,7 @@ label: chorion
-
+
@@ -304956,7 +305640,7 @@ A MIN6 derives from a mus musculus.
-
+
@@ -305248,7 +305932,7 @@ Homo sapiens.
-
+
@@ -313062,9 +313746,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0568
NCIt:C16352
SNOMEDCT:15086000
Afro American
@@ -313076,7 +313761,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
BLACK OR AFRICAN AMERICAN[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011]
- African American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_African American
@@ -313084,10 +313772,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0463
UMLS:C0596070
- American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_American
@@ -313095,15 +313787,19 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
Jie Zheng
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0008
NCIt:C41260
Asians
Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011]
- Asian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian
@@ -313111,9 +313807,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0487
NCIt:C41262
SNOMEDCT:414481008
Asian Indians
@@ -313122,7 +313819,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Asian Indians[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011]
- Asian Indian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian Indian
@@ -313130,14 +313830,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0574
NCIt:C41219
Native Hawaiian or Other Pacific Islander
Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011]
- Asian/Pacific Islander
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Asian/Pacific Islander
@@ -313145,10 +313849,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0462
UMLS:C0596227
- British
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_British
@@ -313156,10 +313864,11 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.
Jie Zheng
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
NCIt:C41261
NCIt:C43851
NCIt:C48325
@@ -313177,7 +313886,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Occidental[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
White[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
Whites[accessedResource: NCIt:C41261][accessDate: 05-04-2011]
- Caucasian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Caucasian
@@ -313185,13 +313897,17 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0021
NCIt:C43391
SNOMEDCT:33897005
Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011]
- Chinese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Chinese
@@ -313199,9 +313915,13 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Ele Holloway
- Eastern Indian
+ http://purl.obolibrary.org/obo/HANCESTRO_0487
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Eastern Indian
@@ -313209,10 +313929,14 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
http://en.wikipedia.org/wiki/European_American
- European-American
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_European-American
@@ -313220,12 +313944,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0498
NCIt:C43393
Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011]
- Filipino
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Filipino
@@ -313233,15 +313961,19 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)
Han Chinese
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0027
CHB
Han People
http://en.wikipedia.org/wiki/Han_Chinese
http://en.wikipedia.org/wiki/Han_Chinese
- Han Chinese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Han Chinese
@@ -313249,12 +313981,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0438
NCIt:C43869
Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011]
- Iranian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Iranian
@@ -313262,12 +313998,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0383
NCIt:C43856
Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011]
- Irish
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Irish
@@ -313275,14 +314015,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0019
NCIt:C43392
SNOMEDCT:414551003
JPT
Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011]
- Japanese
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Japanese
@@ -313290,12 +314034,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0022
NCIt:C43395
Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011]
- Korean
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Korean
@@ -313303,9 +314051,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0014
NCIt:C17459
SNOMEDCT:414408004
Hispanic
@@ -313321,7 +314070,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
- Latino
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Latino
@@ -313329,12 +314081,16 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0570
NCIt:C44085
Pima
Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011]
- Pima Indian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Pima Indian
@@ -313342,14 +314098,18 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0573
NCIt:C43394
Native Hawaiian
Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011]
- Hawaiian
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Hawaiian
@@ -313357,9 +314117,10 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
-
+
A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.
Tomasz Adamusiak
+ http://purl.obolibrary.org/obo/HANCESTRO_0014
NCIt:C17459
SNOMEDCT:414408004
Hispanic Populations
@@ -313373,8 +314134,11 @@ New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalo
Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011]
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
Tomasz Adamusiak
- Hispanic
+ obsolete_Hispanic
@@ -338917,11 +339681,15 @@ New Label : Bronchopulmonary dysplasia
-
+
Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.
Helen Parkinson
+ http://purl.obolibrary.org/obo/HANCESTRO_0010
NCIt:C42331
- African
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_African
@@ -345407,13 +346175,17 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
The Yoruba people are one of the largest ethnic groups in West Africa.
James Malone
+ http://purl.obolibrary.org/obo/HANCESTRO_0575
SNOMEDCT:440659006
YRI
http://en.wikipedia.org/wiki/Yoruba_people
- Yoruba
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Yoruba
@@ -345421,11 +346193,15 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
Population of northern and western European ancestry.
James Malone
+ http://purl.obolibrary.org/obo/HANCESTRO_0005
CEU
- Northern and Western European
+ 2.101
+ true
+ Replacement of all EFO ethnic groups by HANCESTRO terms
+ obsolete_Northern and Western European
@@ -345442,7 +346218,7 @@ New Label : Blepharophimosis-epicanthus inversus-ptosis
-
+
@@ -350857,13 +351633,13 @@ Small-inducible cytokine A11.
-
+
-
+
@@ -350953,13 +351729,13 @@ Small-inducible cytokine A11.
-
+
-
+
@@ -351013,13 +351789,13 @@ Small-inducible cytokine A11.
-
+
-
+
@@ -351757,7 +352533,7 @@ Small-inducible cytokine A11.
-
+
@@ -351838,7 +352614,7 @@ Small-inducible cytokine A11.
-
+
@@ -352691,7 +353467,7 @@ Small-inducible cytokine A11.
-
+
@@ -352747,7 +353523,7 @@ Small-inducible cytokine A11.
-
+
@@ -352803,7 +353579,7 @@ Small-inducible cytokine A11.
-
+
@@ -352859,7 +353635,7 @@ Small-inducible cytokine A11.
-
+
@@ -352915,7 +353691,7 @@ Small-inducible cytokine A11.
-
+
@@ -352971,7 +353747,7 @@ Small-inducible cytokine A11.
-
+
@@ -353027,7 +353803,7 @@ Small-inducible cytokine A11.
-
+
@@ -353083,7 +353859,7 @@ Small-inducible cytokine A11.
-
+
@@ -353139,7 +353915,7 @@ Small-inducible cytokine A11.
-
+
@@ -353195,7 +353971,7 @@ Small-inducible cytokine A11.
-
+
@@ -353251,7 +354027,7 @@ Small-inducible cytokine A11.
-
+
@@ -353307,7 +354083,7 @@ Small-inducible cytokine A11.
-
+
@@ -353363,7 +354139,7 @@ Small-inducible cytokine A11.
-
+
@@ -353419,7 +354195,7 @@ Small-inducible cytokine A11.
-
+
@@ -353475,7 +354251,7 @@ Small-inducible cytokine A11.
-
+
@@ -353575,7 +354351,7 @@ Small-inducible cytokine A11.
-
+
@@ -353631,7 +354407,7 @@ Small-inducible cytokine A11.
-
+
@@ -353687,7 +354463,7 @@ Small-inducible cytokine A11.
-
+
@@ -353743,7 +354519,7 @@ Small-inducible cytokine A11.
-
+
@@ -353828,8 +354604,8 @@ Small-inducible cytokine A11.
-
-
+
+
@@ -353862,7 +354638,7 @@ Small-inducible cytokine A11.
-
+
@@ -355043,7 +355819,7 @@ Small-inducible cytokine A11.
-
+
@@ -358108,6 +358884,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
+
@@ -358140,7 +358917,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
- 46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
+ 46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
46C
@@ -358194,7 +358971,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where
- 46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
+ 46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]
http://e-lico.eu/populous#OPPL_pattern
@@ -362389,7 +363166,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -362555,7 +363332,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -362766,7 +363543,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -362813,7 +363590,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -362982,7 +363759,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -363220,7 +363997,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -363337,7 +364114,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -363392,7 +364169,7 @@ label: 'Conotruncal heart malformations'
-
+
@@ -363593,7 +364370,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -363657,7 +364434,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -363719,7 +364496,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -363778,7 +364555,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -363841,7 +364618,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -363956,7 +364733,7 @@ present. Hum Cell. 2002 Sep;15(3):104-17."
-
+
@@ -367797,6 +368574,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -367915,6 +368693,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -368145,6 +368924,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -368328,6 +369108,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -368378,6 +369159,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -368425,6 +369207,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full
+
@@ -369770,6 +370553,7 @@ A malignant neoplasm of the lymphatic system that is comprised of abnormal lymph
+
@@ -460459,6 +461243,7 @@ Diabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 ma
+
@@ -492418,7 +493203,8 @@ label: granulocyte colony-stimulating factor measurementMicrococcal nuclease mapping of nucleosomes (Nuc-seq)
Dani Welter
PMID:20512117
- Nuc-seq
+ Nuc-seq
+ nucleosome sequencing
@@ -493695,7 +494481,8 @@ label: granulocyte colony-stimulating factor measurementRestriction-site associated DNA (RAD) marker generation
Dani Welter
PMID:18852878
- RAD
+ RAD
+ restriction-site associated DNA sequencing
@@ -510822,6 +511609,2083 @@ to hypernasality and abnormal speech reduction.
+
+
+
+
+ filtering process that either includes or excludes cells of a certain diameter using a physical filter
+ Dani Welter
+ cell size selection
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ EBV-EA seropositivity
+ true
+ Epstein-Barr virus early antigen seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Epstein-Barr virus early antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ EBV-EA seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Herpes simplex virus 2-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HSV2 seropositivity
+ true
+ Herpes simplex virus 2 seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Herpes simplex virus 2-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV2 seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Varicella zoster virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ VZV seropositivity
+ true
+ Varicella zoster virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Varicella zoster virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ VZV seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Helicobacter pylori-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Helicobacter pylori seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Helicobacter pylori-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Measles virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Measles virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Measles virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Mumps virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Mumps virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Mumps virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Rubella virus-specific antibodies
+ Laura Harris
+ PMID:30053915
+ true
+ Rubella virus seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Rubella virus-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HBs seropositivity
+ true
+ Hepatitis B virus surface antigen seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus surface antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBs seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies
+ Laura Harris
+ PMID:30053915
+ HBc seropositivity
+ true
+ Hepatitis B virus core antigen seropositivity
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ The result of a measurement of circulating Hepatitis B virus core antigen-specific antibodies
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBc seropositivity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection
+ Laura Harris
+ PMID:30053915
+ CMV IgG measurement
+ true
+ Anti-cytomegalovirus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to cytomegalovirus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ CMV IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the Epstein-Barr virus early antigen
+ Laura Harris
+ PMID:30053915
+ EBV-EA IgG measurement
+ true
+ Anti-Epstein-Barr virus early antigen IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of antibodies to the Epstein-Barr virus early antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ EBV-EA IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection
+ Laura Harris
+ PMID:30053915
+ HSV1 IgG measurement
+ true
+ Anti-herpes simplex virus 1 IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 1 infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV1 IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection
+ Laura Harris
+ PMID:30053915
+ HSV2 IgG measurement
+ true
+ Anti-herpes simplex virus 2 IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to herpes simplex virus 2 infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HSV2 IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection
+ Laura Harris
+ PMID:30053915
+ VZV IgG measurement
+ true
+ Anti-varicella zoster virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to varicella zoster virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ VZV IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-Helicobacter pylori IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Helicobacter pylori infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-Toxoplasma gondii IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to Toxoplasma gondii infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to influenza A virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-influenza A virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to influenza A virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to measles virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-measles virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to measles virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to mumps virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-mumps virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to mumps virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to rubella virus infection
+ Laura Harris
+ PMID:30053915
+ true
+ Anti-rubella virus IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the IgG antibody isotype produced in response to rubella virus infection
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus surface antigen
+ Laura Harris
+ PMID:30053915
+ HBs IgG measurement
+ true
+ Anti-hepatitis B virus surface antigen IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus surface antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBs IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus core antigen
+ Laura Harris
+ PMID:30053915
+ HBc IgG measurement
+ true
+ Anti-hepatitis B virus core antigen IgG measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of antibodies to the hepatitis B virus core antigen
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30053915
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ HBc IgG measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.
+ Laura Harris
+ PMID:29654602
+ blepharoptosis measurement
+ dermatochalasis measurement
+ true
+ eyelid sagging measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29654602
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ blepharoptosis measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ dermatochalasis measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion.
+ NCIt:C43585
+ colorectal mucinous adenocarcinoma
+
+
+
+
+
+
+
+
+ Quantification of measure of nicotine withdrwawal.
+ Joannella Morales
+ PMID:29532581
+ true
+ nicotine withdrawal measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of measure of nicotine withdrwawal.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Joannella Morales
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29532581
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.
+ Wikipedia:Central_serous_retinopathy
+ chronic central serous chorioretinopathy
+ chronic central serous retinopathy
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Wikipedia:Central_serous_retinopathy
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ chronic central serous chorioretinopathy
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens.
+ nonallergic rhinitis
+ non-allergic rhinitis
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Nonallergic rhinitis has the same symptoms as allergic rhinitis, but in the absence of allergic sensitization, typically evaluated by measurement of specific IgEs or skin-prick test against a range of allergens.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ nonallergic rhinitis
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Normal or abnormal secretions from the vagina.
+ Annalisa Buniello
+ true
+ vaginal discharge
+
+
+
+
+
+
+
+
+ A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period.
+ Annalisa Buniello
+ PMID:29855537
+ true
+ quality of life during menstruation measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ A measure to assess quality of life (QOL) based on how the individual has felt during the menstrual period.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Annalisa Buniello
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29855537
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of a glucose metabolic process.
+ Annalisa Buniello
+ PMID:29130521
+ true
+ glucose metabolism measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of a glucose metabolic process.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Annalisa Buniello
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29130521
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of the amount of factor VII activating protease in a blood sample
+ Laura Harris
+ PMID:30070759
+ FSAP measurement
+ Factor seven-activating protease measurement
+ Hepatocyte growth factor activator-like protein measurement
+ Hyaluronan-binding protein 2 measurement
+ Plasma hyaluronan-binding protein measurement
+ true
+ factor VII activating protease measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of the amount of factor VII activating protease in a blood sample
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30070759
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Hyaluronan-binding protein 2 measurement
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+ A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.
+ Laura Harris
+ PMID:30049742
+ carbon monoxide diffusing capacity
+ pulmonary diffusing capacity
+ transfer factor of the lung for carbon monoxide
+ true
+ diffusing capacity of the lung for carbon monoxide
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:30049742
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ pulmonary diffusing capacity
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ Quantification of some aspect of exposure to radon gas
+ Laura Harris
+ PMID:29971594
+ true
+ radon exposure measurement
+
+
+
+
+
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Quantification of some aspect of exposure to radon gas
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ Laura Harris
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ PMID:29971594
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+ true
+ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
+
+
+
+
+
+
+
+
+ A high-fat, adequate-protein, low-carbohydrate diet. It is primarily used in medicine to treat difficult-to-control epilepsy in children.
+ Annalisa Buniello
+ true
+ ketogenic diet
+
+
+
+
+
+
+
+
+ The physiological response of an organism to being fed a ketogenic diet.
+ Annalisa Buniello
+ true
+ response to ketogenic diet
+
+
+
+
+
+
+
+
+ An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
+ Annalisa Buniello
+ HP:0000969
+ Dropsy
+ Fluid retention
+ Hydrops
+ Oedema
+ Water retention
+ edema
+
+
+
+
@@ -514412,9 +517276,9 @@ Label : Disorder of carbohydrate metabolism
+
-
@@ -514444,19 +517308,19 @@ Label : Disorder of carbohydrate metabolism
-
+
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
+
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
+
http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
@@ -534232,11 +537096,13 @@ Label : malignant epithelioid mesothelioma
-
- NCIt:C26712
- UMLS:C0007130
- mucinous adenocarcinoma
- mucinuos carcinoma
+
+ http://www.ebi.ac.uk/efo/EFO_0000197
+ 2.100
+ true
+ Duplication
+Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
+ obsolete_mucinuos carcinoma
@@ -550887,9 +553753,10 @@ These disorders are common in people of all ages and races. They are characteriz
-
+
a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.
Sirarat Sarntivijai
+ http://www.orpha.net/ORDO/Orphanet_464
DOID:12305
Wikipedia:Incongenita_pigmenti
Bloch-Siemens syndrome
@@ -550897,14 +553764,12 @@ These disorders are common in people of all ages and races. They are characteriz
Incontinentia pigmenti syndrome
melanoblastosis cutis
nevus pigmentosus systematicus
- Bloch-Sulzberger syndrome
+ 2.100
+ true
+ Duplication of Orphanet term
+Use: Orphanet_464 Label: Incontinentia pigmenti
+ obsolete_Bloch-Sulzberger syndrome
-
-
-
-
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -552920,9 +555785,10 @@ These disorders are common in people of all ages and races. They are characteriz
-
+
a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown.
Sirarat Sarntivijai
+ http://www.orpha.net/ORDO/Orphanet_435
DOID:3156
Bloch-Siemans syndrome, nevus of Ito
Hypomelanosis of Ito
@@ -552930,14 +555796,12 @@ These disorders are common in people of all ages and races. They are characteriz
Incontinentia pigmenti syndrome
Ito's nevus
http://emedicine.medscape.com/article/1058580-overview
- incontinentia pigmenti achromians
+ 2.100
+ true
+ Duplication of Orphanet term
+Use: Orphanet:435 Label: Ito hypomelanosis
+ obsolete_incontinentia pigmenti achromians
-
-
-
-
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -567010,7 +569874,18 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu
-
+
+
+
+
+
+
+
+
+
+
+
+
A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.
Sirarat Sarntivijai
DOID:5442
@@ -567022,12 +569897,6 @@ Ankle osteoarthritis is least common and may cause your heel to move to an unusu
Poroma (Acrospiroma)
eccrine acrospiroma
-
-
-
-
- http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern
-
@@ -593923,6 +596792,17 @@ Label : Sea-blue histiocytosis
+
+
+
+
+
+
+
+
+
+
+
@@ -652032,6 +654912,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
ICD10:G12.1
UMLS:C0393541
@@ -660189,13 +663070,13 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
-
- Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings.
- ICD10:Q82.0
- UMLS:C1704423
- orphanet
- Congenital primary lymphedema
+
+ http://www.orpha.net/ORDO/Orphanet_79452
+ 2.100
+ true
+ Following Orphanet obsoletion
+Use: Orphanet:79452 Label: Milroy disease
+ obsolete_Congenital primary lymphedema
@@ -689740,7 +692621,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of optic nerve head leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub classified as primary (Congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome; Coats syndrome (see these terms)). The clinical presentation is variable, based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
orphanet
Hereditary glaucoma
@@ -693372,7 +696253,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:C56
Epithelial cancer of ovary
Ovarian epithelial cancer
@@ -695551,8 +698432,10 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+ Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
ICD10:Q87.8
OMIM:300337
+ UMLS:C0022283
HI syndrome
Hypomelanosis of Ito
Incontinentia pigmenti type 1
@@ -695958,6 +698841,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
ICD10:Q82.3
MSH:D007184
OMIM:308300
+ UMLS:C0021171
+ UMLS:C0022283
+ UMLS:C2930820
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
orphanet
@@ -700465,7 +703351,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
@@ -702438,6 +705324,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
+
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
@@ -704470,7 +707357,6 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).
ICD10:Q13.1
MSH:C538293
@@ -705126,8 +708012,19 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
-
+
+
+
+
+
+
+
+
+
+
+
+
+
Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening condition but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral (unilateral retinoblastoma, bilateral retinoblastoma, see these terms).
ICD10:C69.2
MSH:D012175
@@ -706335,7 +709232,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
ICD10:E75.5
ICD10:E75.6
Lipid storage disease
@@ -706444,7 +709341,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
DOID:1927
ICD10:E75.0
@@ -707942,7 +710839,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
MSH:D008209
MedDRA:10025282
UMLS:C0024236
@@ -708476,12 +711373,13 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
- ).
- ICD10:Q82.0
- Milroy-like disease
- orphanet
- Non hereditary congenital primary lymphedema
+
+ http://www.orpha.net/ORDO/Orphanet_79452
+ 2.100
+ true
+ Following Orphanet obsoleting
+Use: Orphanet_79452 Label: Milroy disease
+ obsolete_Non hereditary congenital primary lymphedema
@@ -708489,7 +711387,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
-
+
+
+
Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
ICD10:Q82.0
OMIM:153100
@@ -708499,6 +711399,7 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
OMIM:615907
UMLS:C1704423
Hereditary lymphedema type I
+ Milroy-like disease
Nonne-Milroy lymphedema
orphanet
Milroy disease
@@ -727673,9 +730574,9 @@ In EFO's scope, an obsolete class that holds an external-ontology namespace
RO:0002082
uberon
+ simultaneous_with
simultaneous_with
Relation between occurrents, shares start and end boundaries.
- simultaneous_with
coincides_with
simultaneous_with
is_equal_to
diff --git a/src/ontology/version.txt b/src/ontology/version.txt
index 07ca004b..1dbb4ffb 100644
--- a/src/ontology/version.txt
+++ b/src/ontology/version.txt
@@ -1 +1 @@
-2.100
+2.101