Mercurial > repos > iuc > beacon2_csv2xlsx
view test-data/EGAF00005572727.json @ 1:89cbbb7821b0 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit eecd43b81a8c9f2175c50a71ae85ce9185a9d3a7
author | iuc |
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date | Tue, 16 Apr 2024 09:27:40 +0000 |
parents | ba4ed464f8b6 |
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{ "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": {} } }