Mercurial > repos > iuc > beacon2_vcf2bff
comparison test-data/individuals.json @ 0:0a757835a745 draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
| author | iuc |
|---|---|
| date | Sun, 01 Oct 2023 16:30:21 +0000 |
| parents | |
| children |
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| -1:000000000000 | 0:0a757835a745 |
|---|---|
| 1 [ | |
| 2 { | |
| 3 "diseases" : [], | |
| 4 "id" : "P0007502", | |
| 5 "info" : { | |
| 6 "interpretation" : { | |
| 7 "diagnosis" : [], | |
| 8 "phenopacket" : { | |
| 9 "meta_data" : { | |
| 10 "created" : "2021-04-21T09:38:48.402Z", | |
| 11 "resources" : [ | |
| 12 { | |
| 13 "id" : "hp", | |
| 14 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 15 "name" : "Human Phenotype Ontology", | |
| 16 "namespacePrefix" : "HP", | |
| 17 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 18 "version" : "2020-12-07" | |
| 19 }, | |
| 20 { | |
| 21 "id" : "orphanet", | |
| 22 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 23 "name" : "Orphanet Rare Disease Ontology", | |
| 24 "namespacePrefix" : "Orphanet", | |
| 25 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 26 "version" : "3.1" | |
| 27 }, | |
| 28 { | |
| 29 "id" : "hgnc", | |
| 30 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 31 "name" : "HUGO Gene Nomenclature Committee", | |
| 32 "namespacePrefix" : "HGNC", | |
| 33 "url" : "https://www.genenames.org", | |
| 34 "version" : "2021-01-13" | |
| 35 }, | |
| 36 { | |
| 37 "id" : "mim", | |
| 38 "iriPrefix" : "https://omim.org/entry/", | |
| 39 "name" : "Online Mendelian Inheritance in Man", | |
| 40 "namespacePrefix" : "OMIM", | |
| 41 "url" : "https://omim.org/", | |
| 42 "version" : "2021-01-21" | |
| 43 } | |
| 44 ] | |
| 45 } | |
| 46 }, | |
| 47 "resolutionStatus" : "UNSOLVED" | |
| 48 }, | |
| 49 "phenopacket" : { | |
| 50 "dateOfBirth" : "unknown-01-01T00:00:00Z", | |
| 51 "genes" : [], | |
| 52 "meta_data" : { | |
| 53 "created" : "2021-04-21T09:38:48.402Z", | |
| 54 "resources" : [ | |
| 55 { | |
| 56 "id" : "hp", | |
| 57 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 58 "name" : "Human Phenotype Ontology", | |
| 59 "namespacePrefix" : "HP", | |
| 60 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 61 "version" : "2020-12-07" | |
| 62 }, | |
| 63 { | |
| 64 "id" : "orphanet", | |
| 65 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 66 "name" : "Orphanet Rare Disease Ontology", | |
| 67 "namespacePrefix" : "Orphanet", | |
| 68 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 69 "version" : "3.1" | |
| 70 }, | |
| 71 { | |
| 72 "id" : "hgnc", | |
| 73 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 74 "name" : "HUGO Gene Nomenclature Committee", | |
| 75 "namespacePrefix" : "HGNC", | |
| 76 "url" : "https://www.genenames.org", | |
| 77 "version" : "2021-01-13" | |
| 78 }, | |
| 79 { | |
| 80 "id" : "mim", | |
| 81 "iriPrefix" : "https://omim.org/entry/", | |
| 82 "name" : "Online Mendelian Inheritance in Man", | |
| 83 "namespacePrefix" : "OMIM", | |
| 84 "url" : "https://omim.org/", | |
| 85 "version" : "2021-01-21" | |
| 86 } | |
| 87 ] | |
| 88 }, | |
| 89 "variants" : [] | |
| 90 } | |
| 91 }, | |
| 92 "phenotypicFeatures" : [], | |
| 93 "sex" : { | |
| 94 "id" : "NCIT:C20197", | |
| 95 "label" : "male" | |
| 96 } | |
| 97 }, | |
| 98 { | |
| 99 "diseases" : [], | |
| 100 "id" : "P0007503", | |
| 101 "info" : { | |
| 102 "interpretation" : { | |
| 103 "diagnosis" : [], | |
| 104 "phenopacket" : { | |
| 105 "meta_data" : { | |
| 106 "created" : "2021-04-21T09:39:45.571Z", | |
| 107 "resources" : [ | |
| 108 { | |
| 109 "id" : "hp", | |
| 110 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 111 "name" : "Human Phenotype Ontology", | |
| 112 "namespacePrefix" : "HP", | |
| 113 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 114 "version" : "2020-12-07" | |
| 115 }, | |
| 116 { | |
| 117 "id" : "orphanet", | |
| 118 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 119 "name" : "Orphanet Rare Disease Ontology", | |
| 120 "namespacePrefix" : "Orphanet", | |
| 121 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 122 "version" : "3.1" | |
| 123 }, | |
| 124 { | |
| 125 "id" : "hgnc", | |
| 126 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 127 "name" : "HUGO Gene Nomenclature Committee", | |
| 128 "namespacePrefix" : "HGNC", | |
| 129 "url" : "https://www.genenames.org", | |
| 130 "version" : "2021-01-13" | |
| 131 }, | |
| 132 { | |
| 133 "id" : "mim", | |
| 134 "iriPrefix" : "https://omim.org/entry/", | |
| 135 "name" : "Online Mendelian Inheritance in Man", | |
| 136 "namespacePrefix" : "OMIM", | |
| 137 "url" : "https://omim.org/", | |
| 138 "version" : "2021-01-21" | |
| 139 } | |
| 140 ] | |
| 141 } | |
| 142 }, | |
| 143 "resolutionStatus" : "UNSOLVED" | |
| 144 }, | |
| 145 "phenopacket" : { | |
| 146 "dateOfBirth" : "unknown-01-01T00:00:00Z", | |
| 147 "genes" : [], | |
| 148 "meta_data" : { | |
| 149 "created" : "2021-04-21T09:39:45.571Z", | |
| 150 "resources" : [ | |
| 151 { | |
| 152 "id" : "hp", | |
| 153 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 154 "name" : "Human Phenotype Ontology", | |
| 155 "namespacePrefix" : "HP", | |
| 156 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 157 "version" : "2020-12-07" | |
| 158 }, | |
| 159 { | |
| 160 "id" : "orphanet", | |
| 161 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 162 "name" : "Orphanet Rare Disease Ontology", | |
| 163 "namespacePrefix" : "Orphanet", | |
| 164 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 165 "version" : "3.1" | |
| 166 }, | |
| 167 { | |
| 168 "id" : "hgnc", | |
| 169 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 170 "name" : "HUGO Gene Nomenclature Committee", | |
| 171 "namespacePrefix" : "HGNC", | |
| 172 "url" : "https://www.genenames.org", | |
| 173 "version" : "2021-01-13" | |
| 174 }, | |
| 175 { | |
| 176 "id" : "mim", | |
| 177 "iriPrefix" : "https://omim.org/entry/", | |
| 178 "name" : "Online Mendelian Inheritance in Man", | |
| 179 "namespacePrefix" : "OMIM", | |
| 180 "url" : "https://omim.org/", | |
| 181 "version" : "2021-01-21" | |
| 182 } | |
| 183 ] | |
| 184 }, | |
| 185 "variants" : [] | |
| 186 } | |
| 187 }, | |
| 188 "phenotypicFeatures" : [ | |
| 189 { | |
| 190 "excluded" : false, | |
| 191 "featureType" : { | |
| 192 "id" : "HP:0000529", | |
| 193 "label" : "Progressive visual loss" | |
| 194 } | |
| 195 }, | |
| 196 { | |
| 197 "excluded" : false, | |
| 198 "featureType" : { | |
| 199 "id" : "HP:0000575", | |
| 200 "label" : "Scotoma" | |
| 201 } | |
| 202 }, | |
| 203 { | |
| 204 "excluded" : false, | |
| 205 "featureType" : { | |
| 206 "id" : "HP:0007703", | |
| 207 "label" : "Abnormality of retinal pigmentation" | |
| 208 } | |
| 209 }, | |
| 210 { | |
| 211 "excluded" : false, | |
| 212 "featureType" : { | |
| 213 "id" : "HP:0008002", | |
| 214 "label" : "Abnormality of macular pigmentation" | |
| 215 } | |
| 216 }, | |
| 217 { | |
| 218 "excluded" : false, | |
| 219 "featureType" : { | |
| 220 "id" : "HP:0012508", | |
| 221 "label" : "Metamorphopsia" | |
| 222 } | |
| 223 } | |
| 224 ], | |
| 225 "sex" : { | |
| 226 "id" : "NCIT:C16576", | |
| 227 "label" : "female" | |
| 228 } | |
| 229 }, | |
| 230 { | |
| 231 "diseases" : [], | |
| 232 "id" : "P0007509", | |
| 233 "info" : { | |
| 234 "interpretation" : { | |
| 235 "diagnosis" : [], | |
| 236 "phenopacket" : { | |
| 237 "meta_data" : { | |
| 238 "created" : "2021-04-21T09:43:53.656Z", | |
| 239 "resources" : [ | |
| 240 { | |
| 241 "id" : "hp", | |
| 242 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 243 "name" : "Human Phenotype Ontology", | |
| 244 "namespacePrefix" : "HP", | |
| 245 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 246 "version" : "2020-12-07" | |
| 247 }, | |
| 248 { | |
| 249 "id" : "orphanet", | |
| 250 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 251 "name" : "Orphanet Rare Disease Ontology", | |
| 252 "namespacePrefix" : "Orphanet", | |
| 253 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 254 "version" : "3.1" | |
| 255 }, | |
| 256 { | |
| 257 "id" : "hgnc", | |
| 258 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 259 "name" : "HUGO Gene Nomenclature Committee", | |
| 260 "namespacePrefix" : "HGNC", | |
| 261 "url" : "https://www.genenames.org", | |
| 262 "version" : "2021-01-13" | |
| 263 }, | |
| 264 { | |
| 265 "id" : "mim", | |
| 266 "iriPrefix" : "https://omim.org/entry/", | |
| 267 "name" : "Online Mendelian Inheritance in Man", | |
| 268 "namespacePrefix" : "OMIM", | |
| 269 "url" : "https://omim.org/", | |
| 270 "version" : "2021-01-21" | |
| 271 } | |
| 272 ] | |
| 273 } | |
| 274 }, | |
| 275 "resolutionStatus" : "UNSOLVED" | |
| 276 }, | |
| 277 "phenopacket" : { | |
| 278 "dateOfBirth" : "unknown-01-01T00:00:00Z", | |
| 279 "genes" : [], | |
| 280 "meta_data" : { | |
| 281 "created" : "2021-04-21T09:43:53.656Z", | |
| 282 "resources" : [ | |
| 283 { | |
| 284 "id" : "hp", | |
| 285 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 286 "name" : "Human Phenotype Ontology", | |
| 287 "namespacePrefix" : "HP", | |
| 288 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 289 "version" : "2020-12-07" | |
| 290 }, | |
| 291 { | |
| 292 "id" : "orphanet", | |
| 293 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 294 "name" : "Orphanet Rare Disease Ontology", | |
| 295 "namespacePrefix" : "Orphanet", | |
| 296 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 297 "version" : "3.1" | |
| 298 }, | |
| 299 { | |
| 300 "id" : "hgnc", | |
| 301 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 302 "name" : "HUGO Gene Nomenclature Committee", | |
| 303 "namespacePrefix" : "HGNC", | |
| 304 "url" : "https://www.genenames.org", | |
| 305 "version" : "2021-01-13" | |
| 306 }, | |
| 307 { | |
| 308 "id" : "mim", | |
| 309 "iriPrefix" : "https://omim.org/entry/", | |
| 310 "name" : "Online Mendelian Inheritance in Man", | |
| 311 "namespacePrefix" : "OMIM", | |
| 312 "url" : "https://omim.org/", | |
| 313 "version" : "2021-01-21" | |
| 314 } | |
| 315 ] | |
| 316 }, | |
| 317 "variants" : [] | |
| 318 } | |
| 319 }, | |
| 320 "phenotypicFeatures" : [], | |
| 321 "sex" : { | |
| 322 "id" : "NCIT:C16576", | |
| 323 "label" : "female" | |
| 324 } | |
| 325 }, | |
| 326 { | |
| 327 "diseases" : [], | |
| 328 "id" : "P0008911", | |
| 329 "info" : { | |
| 330 "interpretation" : { | |
| 331 "diagnosis" : [], | |
| 332 "phenopacket" : { | |
| 333 "meta_data" : { | |
| 334 "created" : "2021-04-21T09:47:54.584Z", | |
| 335 "resources" : [ | |
| 336 { | |
| 337 "id" : "hp", | |
| 338 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 339 "name" : "Human Phenotype Ontology", | |
| 340 "namespacePrefix" : "HP", | |
| 341 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 342 "version" : "2020-12-07" | |
| 343 }, | |
| 344 { | |
| 345 "id" : "orphanet", | |
| 346 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 347 "name" : "Orphanet Rare Disease Ontology", | |
| 348 "namespacePrefix" : "Orphanet", | |
| 349 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 350 "version" : "3.1" | |
| 351 }, | |
| 352 { | |
| 353 "id" : "hgnc", | |
| 354 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 355 "name" : "HUGO Gene Nomenclature Committee", | |
| 356 "namespacePrefix" : "HGNC", | |
| 357 "url" : "https://www.genenames.org", | |
| 358 "version" : "2021-01-13" | |
| 359 }, | |
| 360 { | |
| 361 "id" : "mim", | |
| 362 "iriPrefix" : "https://omim.org/entry/", | |
| 363 "name" : "Online Mendelian Inheritance in Man", | |
| 364 "namespacePrefix" : "OMIM", | |
| 365 "url" : "https://omim.org/", | |
| 366 "version" : "2021-01-21" | |
| 367 } | |
| 368 ] | |
| 369 } | |
| 370 }, | |
| 371 "resolutionStatus" : "UNKNOWN" | |
| 372 }, | |
| 373 "phenopacket" : { | |
| 374 "dateOfBirth" : "unknown-01-01T00:00:00Z", | |
| 375 "genes" : [], | |
| 376 "meta_data" : { | |
| 377 "created" : "2021-04-21T09:47:54.584Z", | |
| 378 "resources" : [ | |
| 379 { | |
| 380 "id" : "hp", | |
| 381 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 382 "name" : "Human Phenotype Ontology", | |
| 383 "namespacePrefix" : "HP", | |
| 384 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 385 "version" : "2020-12-07" | |
| 386 }, | |
| 387 { | |
| 388 "id" : "orphanet", | |
| 389 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 390 "name" : "Orphanet Rare Disease Ontology", | |
| 391 "namespacePrefix" : "Orphanet", | |
| 392 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 393 "version" : "3.1" | |
| 394 }, | |
| 395 { | |
| 396 "id" : "hgnc", | |
| 397 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 398 "name" : "HUGO Gene Nomenclature Committee", | |
| 399 "namespacePrefix" : "HGNC", | |
| 400 "url" : "https://www.genenames.org", | |
| 401 "version" : "2021-01-13" | |
| 402 }, | |
| 403 { | |
| 404 "id" : "mim", | |
| 405 "iriPrefix" : "https://omim.org/entry/", | |
| 406 "name" : "Online Mendelian Inheritance in Man", | |
| 407 "namespacePrefix" : "OMIM", | |
| 408 "url" : "https://omim.org/", | |
| 409 "version" : "2021-01-21" | |
| 410 } | |
| 411 ] | |
| 412 }, | |
| 413 "variants" : [] | |
| 414 } | |
| 415 }, | |
| 416 "phenotypicFeatures" : [], | |
| 417 "sex" : { | |
| 418 "id" : "NCIT:C20197", | |
| 419 "label" : "male" | |
| 420 } | |
| 421 }, | |
| 422 { | |
| 423 "diseases" : [ | |
| 424 { | |
| 425 "diseaseCode" : { | |
| 426 "id" : "Orphanet:97245", | |
| 427 "label" : "Congenital myopathy" | |
| 428 } | |
| 429 }, | |
| 430 { | |
| 431 "diseaseCode" : { | |
| 432 "id" : "OMIM:117000", | |
| 433 "label" : "CENTRAL CORE DISEASE OF MUSCLE" | |
| 434 } | |
| 435 } | |
| 436 ], | |
| 437 "id" : "P0007498", | |
| 438 "info" : { | |
| 439 "interpretation" : { | |
| 440 "diagnosis" : [], | |
| 441 "phenopacket" : { | |
| 442 "meta_data" : { | |
| 443 "created" : "2021-04-21T09:32:38.488Z", | |
| 444 "resources" : [ | |
| 445 { | |
| 446 "id" : "hp", | |
| 447 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 448 "name" : "Human Phenotype Ontology", | |
| 449 "namespacePrefix" : "HP", | |
| 450 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 451 "version" : "2020-12-07" | |
| 452 }, | |
| 453 { | |
| 454 "id" : "orphanet", | |
| 455 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 456 "name" : "Orphanet Rare Disease Ontology", | |
| 457 "namespacePrefix" : "Orphanet", | |
| 458 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 459 "version" : "3.1" | |
| 460 }, | |
| 461 { | |
| 462 "id" : "hgnc", | |
| 463 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 464 "name" : "HUGO Gene Nomenclature Committee", | |
| 465 "namespacePrefix" : "HGNC", | |
| 466 "url" : "https://www.genenames.org", | |
| 467 "version" : "2021-01-13" | |
| 468 }, | |
| 469 { | |
| 470 "id" : "mim", | |
| 471 "iriPrefix" : "https://omim.org/entry/", | |
| 472 "name" : "Online Mendelian Inheritance in Man", | |
| 473 "namespacePrefix" : "OMIM", | |
| 474 "url" : "https://omim.org/", | |
| 475 "version" : "2021-01-21" | |
| 476 } | |
| 477 ] | |
| 478 } | |
| 479 }, | |
| 480 "resolutionStatus" : "SOLVED" | |
| 481 }, | |
| 482 "phenopacket" : { | |
| 483 "dateOfBirth" : "2013-01-01T00:00:00Z", | |
| 484 "genes" : [], | |
| 485 "meta_data" : { | |
| 486 "created" : "2021-04-21T09:32:38.488Z", | |
| 487 "resources" : [ | |
| 488 { | |
| 489 "id" : "hp", | |
| 490 "iriPrefix" : "http://purl.obolibrary.org/obo/HP_", | |
| 491 "name" : "Human Phenotype Ontology", | |
| 492 "namespacePrefix" : "HP", | |
| 493 "url" : "http://purl.obolibrary.org/obo/hp.owl", | |
| 494 "version" : "2020-12-07" | |
| 495 }, | |
| 496 { | |
| 497 "id" : "orphanet", | |
| 498 "iriPrefix" : "http://www.orpha.net/ORDO/Orphanet_", | |
| 499 "name" : "Orphanet Rare Disease Ontology", | |
| 500 "namespacePrefix" : "Orphanet", | |
| 501 "url" : "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
| 502 "version" : "3.1" | |
| 503 }, | |
| 504 { | |
| 505 "id" : "hgnc", | |
| 506 "iriPrefix" : "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| 507 "name" : "HUGO Gene Nomenclature Committee", | |
| 508 "namespacePrefix" : "HGNC", | |
| 509 "url" : "https://www.genenames.org", | |
| 510 "version" : "2021-01-13" | |
| 511 }, | |
| 512 { | |
| 513 "id" : "mim", | |
| 514 "iriPrefix" : "https://omim.org/entry/", | |
| 515 "name" : "Online Mendelian Inheritance in Man", | |
| 516 "namespacePrefix" : "OMIM", | |
| 517 "url" : "https://omim.org/", | |
| 518 "version" : "2021-01-21" | |
| 519 } | |
| 520 ] | |
| 521 }, | |
| 522 "variants" : [] | |
| 523 } | |
| 524 }, | |
| 525 "phenotypicFeatures" : [ | |
| 526 { | |
| 527 "excluded" : true, | |
| 528 "featureType" : { | |
| 529 "id" : "HP:0001249", | |
| 530 "label" : "Intellectual disability" | |
| 531 } | |
| 532 }, | |
| 533 { | |
| 534 "excluded" : false, | |
| 535 "featureType" : { | |
| 536 "id" : "HP:0000467", | |
| 537 "label" : "Neck muscle weakness" | |
| 538 } | |
| 539 }, | |
| 540 { | |
| 541 "excluded" : false, | |
| 542 "featureType" : { | |
| 543 "id" : "HP:0001252", | |
| 544 "label" : "Muscular hypotonia" | |
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