Mercurial > repos > iuc > beacon2_pxf2bff
view test-data/EGAF00005572753.json @ 1:23449c685168 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit eecd43b81a8c9f2175c50a71ae85ce9185a9d3a7
| author | iuc |
|---|---|
| date | Tue, 16 Apr 2024 09:27:25 +0000 |
| parents | 30605b5fc43f |
| children |
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{ "phenopacket": { "id": "P0007503", "subject": { "id": "P0007503", "dateOfBirth": "unknown-01-01T00:00:00Z", "sex": "FEMALE" }, "phenotypicFeatures": [ { "type": { "id": "HP:0000529", "label": "Progressive visual loss" } }, { "type": { "id": "HP:0000575", "label": "Scotoma" } }, { "type": { "id": "HP:0007703", "label": "Abnormality of retinal pigmentation" } }, { "type": { "id": "HP:0008002", "label": "Abnormality of macular pigmentation" } }, { "type": { "id": "HP:0012508", "label": "Metamorphopsia" } } ], "diseases": [], "genes": [], "variants": [], "meta_data": { "created": "2021-04-21T09:39:45.571Z", "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": "P0007503", "resolutionStatus": "UNSOLVED", "phenopacket": { "id": "P0007503", "subject": { "id": "P0007503", "dateOfBirth": "unknown-01-01T00:00:00Z", "sex": "FEMALE" }, "phenotypicFeatures": [ { "type": { "id": "HP:0000529", "label": "Progressive visual loss" } }, { "type": { "id": "HP:0000575", "label": "Scotoma" } }, { "type": { "id": "HP:0007703", "label": "Abnormality of retinal pigmentation" } }, { "type": { "id": "HP:0008002", "label": "Abnormality of macular pigmentation" } }, { "type": { "id": "HP:0012508", "label": "Metamorphopsia" } } ], "diseases": [], "genes": [], "variants": [], "meta_data": { "created": "2021-04-21T09:39:45.571Z", "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": {} } }