Mercurial > repos > iuc > beacon2_csv2xlsx
comparison test-data/EGAF00005572887.json @ 0:4509627e6ee1 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
| author | iuc |
|---|---|
| date | Sun, 01 Oct 2023 16:29:22 +0000 |
| parents | |
| children |
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| -1:000000000000 | 0:4509627e6ee1 |
|---|---|
| 1 { | |
| 2 "phenopacket": { | |
| 3 "id": "P0008909", | |
| 4 "subject": { | |
| 5 "id": "P0008909", | |
| 6 "dateOfBirth": "1982-01-01T00:00:00Z", | |
| 7 "sex": "FEMALE" | |
| 8 }, | |
| 9 "phenotypicFeatures": [ | |
| 10 { | |
| 11 "negated": true, | |
| 12 "type": { | |
| 13 "id": "HP:0000144", | |
| 14 "label": "Decreased fertility" | |
| 15 } | |
| 16 }, | |
| 17 { | |
| 18 "negated": true, | |
| 19 "type": { | |
| 20 "id": "HP:0003003", | |
| 21 "label": "Colon cancer" | |
| 22 } | |
| 23 }, | |
| 24 { | |
| 25 "type": { | |
| 26 "id": "HP:0003002", | |
| 27 "label": "Breast carcinoma" | |
| 28 } | |
| 29 }, | |
| 30 { | |
| 31 "type": { | |
| 32 "id": "HP:0100013", | |
| 33 "label": "Neoplasm of the breast" | |
| 34 } | |
| 35 } | |
| 36 ], | |
| 37 "diseases": [ | |
| 38 { | |
| 39 "term": { | |
| 40 "id": "Orphanet:145", | |
| 41 "label": "Hereditary breast and ovarian cancer syndrome" | |
| 42 } | |
| 43 } | |
| 44 ], | |
| 45 "genes": [], | |
| 46 "variants": [], | |
| 47 "meta_data": { | |
| 48 "created": "2021-04-21T09:45:31.121Z", | |
| 49 "resources": [ | |
| 50 { | |
| 51 "id": "hp", | |
| 52 "name": "Human Phenotype Ontology", | |
| 53 "url": "http://purl.obolibrary.org/obo/hp.owl", | |
| 54 "version": "2020-12-07", | |
| 55 "namespacePrefix": "HP", | |
| 56 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" | |
| 57 }, | |
| 58 { | |
| 59 "id": "orphanet", | |
| 60 "name": "Orphanet Rare Disease Ontology", | |
| 61 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 62 "version": "3.1", | |
| 63 "namespacePrefix": "Orphanet", | |
| 64 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" | |
| 65 }, | |
| 66 { | |
| 67 "id": "hgnc", | |
| 68 "name": "HUGO Gene Nomenclature Committee", | |
| 69 "url": "https://www.genenames.org", | |
| 70 "version": "2021-01-13", | |
| 71 "namespacePrefix": "HGNC", | |
| 72 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" | |
| 73 }, | |
| 74 { | |
| 75 "id": "mim", | |
| 76 "name": "Online Mendelian Inheritance in Man", | |
| 77 "url": "https://omim.org/", | |
| 78 "version": "2021-01-21", | |
| 79 "namespacePrefix": "OMIM", | |
| 80 "iriPrefix": "https://omim.org/entry/" | |
| 81 } | |
| 82 ] | |
| 83 } | |
| 84 }, | |
| 85 "interpretation": { | |
| 86 "id": "P0008909", | |
| 87 "resolutionStatus": "UNSOLVED", | |
| 88 "phenopacket": { | |
| 89 "id": "P0008909", | |
| 90 "subject": { | |
| 91 "id": "P0008909", | |
| 92 "dateOfBirth": "1982-01-01T00:00:00Z", | |
| 93 "sex": "FEMALE" | |
| 94 }, | |
| 95 "phenotypicFeatures": [ | |
| 96 { | |
| 97 "negated": true, | |
| 98 "type": { | |
| 99 "id": "HP:0000144", | |
| 100 "label": "Decreased fertility" | |
| 101 } | |
| 102 }, | |
| 103 { | |
| 104 "negated": true, | |
| 105 "type": { | |
| 106 "id": "HP:0003003", | |
| 107 "label": "Colon cancer" | |
| 108 } | |
| 109 }, | |
| 110 { | |
| 111 "type": { | |
| 112 "id": "HP:0003002", | |
| 113 "label": "Breast carcinoma" | |
| 114 } | |
| 115 }, | |
| 116 { | |
| 117 "type": { | |
| 118 "id": "HP:0100013", | |
| 119 "label": "Neoplasm of the breast" | |
| 120 } | |
| 121 } | |
| 122 ], | |
| 123 "diseases": [ | |
| 124 { | |
| 125 "term": { | |
| 126 "id": "Orphanet:145", | |
| 127 "label": "Hereditary breast and ovarian cancer syndrome" | |
| 128 } | |
| 129 } | |
| 130 ], | |
| 131 "genes": [], | |
| 132 "variants": [], | |
| 133 "meta_data": { | |
| 134 "created": "2021-04-21T09:45:31.121Z", | |
| 135 "resources": [ | |
| 136 { | |
| 137 "id": "hp", | |
| 138 "name": "Human Phenotype Ontology", | |
| 139 "url": "http://purl.obolibrary.org/obo/hp.owl", | |
| 140 "version": "2020-12-07", | |
| 141 "namespacePrefix": "HP", | |
| 142 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" | |
| 143 }, | |
| 144 { | |
| 145 "id": "orphanet", | |
| 146 "name": "Orphanet Rare Disease Ontology", | |
| 147 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 148 "version": "3.1", | |
| 149 "namespacePrefix": "Orphanet", | |
| 150 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" | |
| 151 }, | |
| 152 { | |
| 153 "id": "hgnc", | |
| 154 "name": "HUGO Gene Nomenclature Committee", | |
| 155 "url": "https://www.genenames.org", | |
| 156 "version": "2021-01-13", | |
| 157 "namespacePrefix": "HGNC", | |
| 158 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" | |
| 159 }, | |
| 160 { | |
| 161 "id": "mim", | |
| 162 "name": "Online Mendelian Inheritance in Man", | |
| 163 "url": "https://omim.org/", | |
| 164 "version": "2021-01-21", | |
| 165 "namespacePrefix": "OMIM", | |
| 166 "iriPrefix": "https://omim.org/entry/" | |
| 167 } | |
| 168 ] | |
| 169 } | |
| 170 }, | |
| 171 "diagnosis": [], | |
| 172 "meta_data": {} | |
| 173 } | |
| 174 } |
