Mercurial > repos > iuc > beacon2_pxf2bff
view test-data/EGAF00005572887.json @ 0:30605b5fc43f draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
| author | iuc |
|---|---|
| date | Sun, 01 Oct 2023 16:31:09 +0000 |
| parents | |
| children |
line wrap: on
line source
{ "phenopacket": { "id": "P0008909", "subject": { "id": "P0008909", "dateOfBirth": "1982-01-01T00:00:00Z", "sex": "FEMALE" }, "phenotypicFeatures": [ { "negated": true, "type": { "id": "HP:0000144", "label": "Decreased fertility" } }, { "negated": true, "type": { "id": "HP:0003003", "label": "Colon cancer" } }, { "type": { "id": "HP:0003002", "label": "Breast carcinoma" } }, { "type": { "id": "HP:0100013", "label": "Neoplasm of the breast" } } ], "diseases": [ { "term": { "id": "Orphanet:145", "label": "Hereditary breast and ovarian cancer syndrome" } } ], "genes": [], "variants": [], "meta_data": { "created": "2021-04-21T09:45:31.121Z", "resources": [ { "id": "hp", "name": "Human Phenotype Ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", "version": "2020-12-07", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" }, { "id": "orphanet", "name": "Orphanet Rare Disease Ontology", "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", "version": "3.1", "namespacePrefix": "Orphanet", "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" }, { "id": "hgnc", "name": "HUGO Gene Nomenclature Committee", "url": "https://www.genenames.org", "version": "2021-01-13", "namespacePrefix": "HGNC", "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" }, { "id": "mim", "name": "Online Mendelian Inheritance in Man", "url": "https://omim.org/", "version": "2021-01-21", "namespacePrefix": "OMIM", "iriPrefix": "https://omim.org/entry/" } ] } }, "interpretation": { "id": "P0008909", "resolutionStatus": "UNSOLVED", "phenopacket": { "id": "P0008909", "subject": { "id": "P0008909", "dateOfBirth": "1982-01-01T00:00:00Z", "sex": "FEMALE" }, "phenotypicFeatures": [ { "negated": true, "type": { "id": "HP:0000144", "label": "Decreased fertility" } }, { "negated": true, "type": { "id": "HP:0003003", "label": "Colon cancer" } }, { "type": { "id": "HP:0003002", "label": "Breast carcinoma" } }, { "type": { "id": "HP:0100013", "label": "Neoplasm of the breast" } } ], "diseases": [ { "term": { "id": "Orphanet:145", "label": "Hereditary breast and ovarian cancer syndrome" } } ], "genes": [], "variants": [], "meta_data": { "created": "2021-04-21T09:45:31.121Z", "resources": [ { "id": "hp", "name": "Human Phenotype Ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", "version": "2020-12-07", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" }, { "id": "orphanet", "name": "Orphanet Rare Disease Ontology", "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", "version": "3.1", "namespacePrefix": "Orphanet", "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" }, { "id": "hgnc", "name": "HUGO Gene Nomenclature Committee", "url": "https://www.genenames.org", "version": "2021-01-13", "namespacePrefix": "HGNC", "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" }, { "id": "mim", "name": "Online Mendelian Inheritance in Man", "url": "https://omim.org/", "version": "2021-01-21", "namespacePrefix": "OMIM", "iriPrefix": "https://omim.org/entry/" } ] } }, "diagnosis": [], "meta_data": {} } }