Mercurial > repos > iuc > beacon2_csv2xlsx
diff test-data/EGAF00005572727.json @ 0:ba4ed464f8b6 draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
| author | iuc |
|---|---|
| date | Sun, 01 Oct 2023 16:30:46 +0000 |
| parents | |
| children |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/EGAF00005572727.json Sun Oct 01 16:30:46 2023 +0000 @@ -0,0 +1,268 @@ +{ + "phenopacket": { + "id": "P0007498", + "subject": { + "id": "P0007498", + "dateOfBirth": "2013-01-01T00:00:00Z", + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "negated": true, + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000467", + "label": "Neck muscle weakness" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0001319", + "label": "Neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0002783", + "label": "Recurrent lower respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0005684", + "label": "Distal arthrogryposis" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + } + } + ], + "diseases": [ + { + "term": { + "id": "Orphanet:97245", + "label": "Congenital myopathy" + } + }, + { + "term": { + "id": "OMIM:117000", + "label": "CENTRAL CORE DISEASE OF MUSCLE" + } + } + ], + "genes": [], + "variants": [], + "meta_data": { + "created": "2021-04-21T09:32:38.488Z", + "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": "P0007498", + "resolutionStatus": "SOLVED", + "phenopacket": { + "id": "P0007498", + "subject": { + "id": "P0007498", + "dateOfBirth": "2013-01-01T00:00:00Z", + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "negated": true, + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000467", + "label": "Neck muscle weakness" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0001319", + "label": "Neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0002783", + "label": "Recurrent lower respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0005684", + "label": "Distal arthrogryposis" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + } + } + ], + "diseases": [ + { + "term": { + "id": "Orphanet:97245", + "label": "Congenital myopathy" + } + }, + { + "term": { + "id": "OMIM:117000", + "label": "CENTRAL CORE DISEASE OF MUSCLE" + } + } + ], + "genes": [], + "variants": [], + "meta_data": { + "created": "2021-04-21T09:32:38.488Z", + "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": {} + } +} \ No newline at end of file