From 9b7d7cd95dba85a7cdd26f6f28d58b0e2600a42f Mon Sep 17 00:00:00 2001 From: pnrobinson Date: Sun, 5 Nov 2023 13:36:58 -0500 Subject: [PATCH] LIRICAL phenopacket data --- notebooks/LIRICAL/LIRICAL.ipynb | 542 ++++++ .../Abdul_Wahab-2016-GCDH-Patient_5.json | 162 ++ .../Ajmal-2013-BBS1-IV-5_family_A.json | 191 ++ ...l-Dosari-2010-TFAP2A-10-year-old_girl.json | 284 +++ .../Al-Hashmi-2018-SNX14-IV-1.json | 362 ++++ .../Al-Qattan-2018-SCARF2-proband.json | 343 ++++ .../Al-Semari-2013-FGD1-II-1.json | 238 +++ .../AlSubhi-2016-ALG9-IV_5.json | 327 ++++ ...Alazami-2016-ATP6V1E1-Family_5_-_IV_2.json | 147 ++ .../v1phenopackets/Ali-2017-MYH3-proband.json | 281 +++ .../Alzahrani-2018-EPG5-18-month_son.json | 311 ++++ ...Anazi-2017-NKX6-2-Patient_36-16DG1123.json | 162 ++ .../Arno-2017-ARHGEF18-Individual_1.json | 219 +++ .../Arno-2017-ARHGEF18-Individual_2.json | 219 +++ .../Arora-2019-COG8-proband.json | 496 ++++++ .../Asgharzade-2018-GIPC3-Ahv-14_23.json | 101 ++ .../Avgeris-2017-TSC1-patient_6.json | 193 ++ .../Avrahami-2008-ST14-patient.json | 193 ++ .../Badin-2017-RUNX1-Pedigree_I,_V_2.json | 131 ++ .../Baldi-2018-NKX6-2-F6,II-2.json | 448 +++++ .../v1phenopackets/Bao-2019-COL6A1-II.1.json | 409 +++++ .../Bastaki-2017-CTCF-proband.json | 507 ++++++ .../v1phenopackets/Bee-2015-BBS2-II_2.json | 233 +++ .../Ben_Ammar-2013-MUSK-patient.json | 346 ++++ .../Bhatia-2018-PRPF31-IV_3.json | 161 ++ .../v1phenopackets/Bhoj-2016-TBCK-1-1.json | 389 ++++ .../v1phenopackets/Bhoj-2016-TBCK-1-2.json | 207 +++ .../v1phenopackets/Bhoj-2016-TBCK-2-1.json | 280 +++ .../v1phenopackets/Bhoj-2016-TBCK-3-1.json | 314 ++++ .../v1phenopackets/Bhoj-2016-TBCK-4-1.json | 252 +++ .../v1phenopackets/Bhoj-2016-TBCK-4-2.json | 159 ++ .../v1phenopackets/Bhoj-2016-TBCK-5-1.json | 357 ++++ .../v1phenopackets/Bhoj-2016-TBCK-6-1.json | 283 +++ .../v1phenopackets/Bhoj-2016-TBCK-6-2.json | 162 ++ .../v1phenopackets/Bhoj-2016-TBCK-8-1.json | 298 ++++ .../v1phenopackets/Bicknell-2007-FLNB-19.json | 267 +++ .../Blanco-Kelly-2017-CDH3-Patient.json | 312 ++++ .../Bluteau-2018-SAMD9L-UB049.json | 197 ++ .../Bluteau-2018-SAMD9L-UB081.json | 195 ++ .../Bluteau-2018-SAMD9L-UB085.json | 269 +++ .../Bluteau-2018-SAMD9L-UB612.json | 132 ++ .../Boddrich-1997-NF1-0548.json | 206 +++ .../Bordbar-2017-PRF1-8-year-old_boy.json | 178 ++ .../Bulut-2017-SETBP1-proposita.json | 478 +++++ .../Calado-2005-UMOD-proband.json | 177 ++ .../Canosa-2018-SOD1-patient.json | 192 ++ .../Cao-2018-FBN1-Patient_1.json | 147 ++ .../Cao-2018-FBN1-Patient_2.json | 252 +++ .../Cao-2018-FBN1-Patient_3.json | 147 ++ .../Cao-2018-TGFBR2-Patient_4.json | 312 ++++ .../Caputo-2014-SMAD4-patient.json | 359 ++++ .../Caro-Contreras-2019-ERF-proband.json | 343 ++++ .../Carre-2014-FOXE1-patient.json | 191 ++ .../Chabas-2005-GBA-_boy_weighing_1690_g.json | 191 ++ .../Chebly-2018-ERCC6-Patient_B.json | 162 ++ .../Chebly-2018-ERCC8-Patient_A.json | 192 ++ .../Chebly-2018-ERCC8-Patient_C.json | 162 ++ .../Chelban-2017-NKX6-2-III-1.json | 374 ++++ .../Chelban-2017-NKX6-2-IV-6.json | 147 ++ .../v1phenopackets/Chen-2014-RUNX2-III_3.json | 237 +++ .../v1phenopackets/Chen-2016-SAMD9L-II-4.json | 177 ++ .../v1phenopackets/Chen-2016-SAMD9L-IV-1.json | 162 ++ .../Cheng-2018-FBN1-Family_1,_Patient_1.json | 299 ++++ .../Chong-2016-TBCK-A-II-1.json | 507 ++++++ .../Chong-2016-TBCK-B-IV-4.json | 447 +++++ .../Chong-2016-TBCK-B-IV-6.json | 327 ++++ .../Chong-2016-TBCK-C-II-1.json | 482 +++++ .../Chong-2016-TBCK-D-II-1.json | 494 +++++ .../Claverie-Martin-2019-LMX1B-index.json | 177 ++ .../Cuchanski-2018-KIF5A-proband.json | 270 +++ .../v1phenopackets/Curtis-1978-FLCN-253.json | 115 ++ ...astsooz-2017-PANK2-Family_I_patient_I.json | 195 ++ ...sooz-2017-PLA2G6-family_II_patient_II.json | 209 +++ .../Dauber-2014-SLC35C1-Proband_1.json | 406 +++++ .../Delahaye-2007-CHD7-B_III-3.json | 297 ++++ .../Delahaye-2007-CHD7-Patient_A_III-2.json | 297 ++++ .../Devalla-2016-TECRL-Patient_1.json | 207 +++ .../Di_Nottia-2017-PARK7-proband.json | 284 +++ .../v1phenopackets/Dias-2013-TRPS1-girl.json | 160 ++ .../Dikoglu-2015-LONP1-Patient_1.json | 219 +++ .../Dinani-2017-AAGAB-family_1_proband.json | 149 ++ .../Djamshidian-2009-VCP-II-3.json | 254 +++ .../Dobbs-2008-FLNB-patient.json | 269 +++ .../Dorboz-2017-NKX6-2-Patient_1_II-1.json | 282 +++ .../Dorboz-2017-NKX6-2-Patient_3_II-3.json | 222 +++ .../Dorboz-2017-NKX6-2-Patient_4_II-1.json | 249 +++ .../Dougherty-2016-NPC1-The_proband.json | 308 ++++ .../v1phenopackets/Du-2018-TINF2-proband.json | 271 +++ .../Ekvall-2015-NRAS-case_1.json | 312 ++++ .../El-Harith-2009-MPL-FT2_VI_3.json | 102 ++ .../El-Jaick-2007-TGIF1-male_proband.json | 191 ++ .../Elsaadany-2016-WWOX-Patient_1.json | 359 ++++ .../Elsaid-2017-NT5C2-II.3.json | 283 +++ .../Falik_Zaccai-2014-INSR-ISR1.json | 296 +++ .../Falik_Zaccai-2017-PLAA-A-VI3.json | 344 ++++ .../Fiscaletti-2018-SP7-II_5.json | 328 ++++ .../Fregeau-2016-RERE-Subject_1.json | 1470 +++++++++++++++ .../Fregeau-2016-RERE-Subject_10.json | 177 ++ .../Fregeau-2016-RERE-Subject_2.json | 1413 +++++++++++++++ .../Fregeau-2016-RERE-Subject_3.json | 1582 +++++++++++++++++ .../Fregeau-2016-RERE-Subject_4.json | 1456 +++++++++++++++ .../Fregeau-2016-RERE-Subject_5.json | 1530 ++++++++++++++++ .../Fregeau-2016-RERE-Subject_6.json | 1315 ++++++++++++++ .../Fregeau-2016-RERE-Subject_7.json | 1479 +++++++++++++++ .../Fregeau-2016-RERE-Subject_8.json | 1555 ++++++++++++++++ .../Fregeau-2016-RERE-Subject_9.json | 1415 +++++++++++++++ .../Fusco-2017-PMP22-Proband.json | 195 ++ .../Gan-Or-2016-CAPN1-Family_A-V_2.json | 207 +++ .../Gan-Or-2016-CAPN1-Family_B-IV_1.json | 192 ++ .../Gan-Or-2016-CAPN1-Family_C-IV_13.json | 144 ++ .../Gao-2019-RUNX2-Family_A_II1.json | 372 ++++ .../Gao-2019-RUNX2-Family_B_II1.json | 372 ++++ .../Gao-2019-RUNX2-Family_D_II1.json | 372 ++++ .../v1phenopackets/Ge-2019-TJP2-proband.json | 359 ++++ .../Gebbia-1997-ZIC3-III-1.json | 267 +++ .../Geiger-2017-TUBB2B-proband.json | 360 ++++ .../Gerding-2009-LITAF-Proband.json | 301 ++++ .../Giau-2018-PSEN2-proband.json | 132 ++ .../v1phenopackets/Gong-2015-CBS-III_3.json | 278 +++ .../Gonzalez-Perez-2009-CAV3-I1.json | 333 ++++ .../Gowda-2017-MCOLN1-6_year_old_boy.json | 206 +++ .../Gregor-2018-FBXO11-Individual_1.json | 480 +++++ .../Grumach-2015-CARD9-Patient.json | 210 +++ .../Gu-2013-NOTCH2-proband.json | 268 +++ .../Gueguen-2013-ACTN1-proband.json | 164 ++ .../Guerreiro-2016-TBCK-II-3.json | 402 +++++ .../Guerreiro-2016-TBCK-II-4.json | 327 ++++ .../v1phenopackets/Gul-2006-CENPJ-IV-5.json | 195 ++ .../Guo-2017-EXTL3-Patient_1.json | 837 +++++++++ .../Guo-2018-KDM6A-3_month_old_boy.json | 406 +++++ .../v1phenopackets/Habarou-2017-LIPT2-P1.json | 339 ++++ .../Haliloglu-2017-PIEZO2-Patient.json | 266 +++ .../Hall-2017-PLAA-Family_A-IV_6.json | 417 +++++ .../Hall-2017-PLAA-Family_D-Case_VIII-1.json | 297 ++++ .../v1phenopackets/Hamamy-2014-FYB1-IV_5.json | 148 ++ .../Hamzeh-2016-GPSM2-case_1.json | 282 +++ .../v1phenopackets/Han-2015-CHRDL1-III-1.json | 148 ++ .../Hara-2019-TGFBR1-patient.json | 357 ++++ ...arlalka-2013-HERC2-Pedigree_1A,VIII_8.json | 222 +++ .../Hashemi-Gorji-2019-MED23-IV.8.json | 192 ++ .../Hayette-1995-EPB42-proposita.json | 162 ++ .../Helmi-2017-LYST-patient.json | 304 ++++ .../Hernan-2004-STK11-20-year-old_woman_.json | 132 ++ .../Higuchi-2017-COL2A1-proband.json | 375 ++++ .../Hilgert-2008-TMC1-935-IV_1.json | 118 ++ ...ayashi-2018-SPINT2-two-month-old_male.json | 294 +++ .../Hirschhorn-1991-ADA-Patient.json | 176 ++ .../Ho-2018-GNPTAB-proband.json | 309 ++++ .../Holmberg-1997-GP1BA-73_year_old_male.json | 161 ++ .../Horvath-2014-GLRA1-proband.json | 163 ++ .../Hsu-2017-SNAP29-The_patient.json | 371 ++++ .../Huang-2017-P3H1-proband.json | 158 ++ .../v1phenopackets/Hyun-2018-TP53RK-II-1.json | 237 +++ .../v1phenopackets/Imani-2019-BBS5-II_2.json | 178 ++ .../Infante-2017-SMC3-patient_1.json | 432 +++++ .../v1phenopackets/Inlora-2017-APTX-V-3.json | 147 ++ .../Inui-2017-LONP1-Proband.json | 297 ++++ .../Irfanullah-2015-NPR2-IV-2_family-A.json | 238 +++ .../Ishii-2013-KCNT1-Patient-1.json | 162 ++ .../Itoh-Satoh-2002-TTN-JK109.json | 147 ++ ...an-2017-PYGL-2-year_5-month_old_child.json | 302 ++++ .../Janecke-2015-SLC9A3-Patient_9.json | 235 +++ .../Jansen-2016-TMEM199-F1-II2.json | 252 +++ .../Jansen-2016-TMEM199-F2-II2.json | 357 ++++ .../Jansen-2016-TMEM199-F3-II1.json | 267 +++ .../Janssen-2009-BSND-family-A-III3.json | 223 +++ .../Javadiyan-2017-MAF-patient_CSA108.01.json | 102 ++ .../Jeon-2014-LAMC2-patient.json | 174 ++ .../v1phenopackets/Ji-2017-ATRX-Proband.json | 222 +++ .../Jiang-2017-PPIB-second_fetus.json | 172 ++ .../v1phenopackets/Jin-2017-FBN1-patient.json | 343 ++++ .../Jordan-2018-RERE-Subject_2.json | 428 +++++ .../Jordan-2018-RERE-Subject_3.json | 616 +++++++ .../Jordan-2018-RERE-Subject_4.json | 334 ++++ .../Jordan-2018-RERE-Subject_5.json | 558 ++++++ .../Jordan-2018-RERE-Subject_6.json | 294 +++ .../Jordan-2018-RERE-Subject_7.json | 657 +++++++ .../Jordan-2018-RERE-Subject_8.json | 649 +++++++ .../Jordan-2018-RERE-Subject_9.json | 403 +++++ ...a-2014-FBLN5-4-year-old_Burmese_girl_.json | 269 +++ .../Kato-2018-HNF1B-patient.json | 177 ++ .../v1phenopackets/Khan-2017-HOXC13-IV-1.json | 194 ++ .../Kim-2016-LAMB3-proband.json | 117 ++ .../Kinnear-2017-TTC37-index.json | 345 ++++ .../Kluijtmans-1996-CBS-patient.json | 147 ++ .../Kocoglu-2018-CAPN1-Fam1Pat1.json | 192 ++ .../Kocoglu-2018-CAPN1-Fam2Pat1.json | 192 ++ .../Konkolova-2017-GRHPR-patient.json | 255 +++ .../v1phenopackets/Kou-2018-ERCC6-index.json | 357 ++++ .../Kremer-2016-TANGO2-F1_II.2.json | 432 +++++ .../Kretz-2011-PYCR1-Patient_4.json | 329 ++++ .../Kruszka-2016-FGFR3-Proband_27.json | 162 ++ .../Kuptanon-2018-WNT1-proband.json | 255 +++ .../Kury-2017-PSMD12-Subject_1.json | 597 +++++++ .../Kury-2017-PSMD12-Subject_2.json | 539 ++++++ .../Kury-2017-PSMD12-Subject_3.json | 271 +++ .../Kury-2017-PSMD12-Subject_4.json | 402 +++++ .../Lalani-2016-TANGO2-Subject_2.json | 583 ++++++ .../Lalani-2016-TANGO2-Subject_4.json | 327 ++++ .../Lalani-2016-TANGO2-Subject_5.json | 402 +++++ .../Lalani-2016-TANGO2-Subject_6.json | 345 ++++ .../Lalani-2016-TANGO2-Suject_1.json | 388 ++++ .../v1phenopackets/Lambe-2018-CAPN1-II-4.json | 162 ++ .../Lesage-2016-VPS13C-Family_A,_V-2.json | 360 ++++ .../Lesage-2016-VPS13C-Family_B,_II-1.json | 174 ++ .../Lesage-2016-VPS13C-Family_C,_II-1.json | 160 ++ ...i-2014-BBS4-4-year-old_female_patient.json | 236 +++ .../v1phenopackets/Li-2018-STXBP1-P1.json | 176 ++ .../Liberalesso-2017-SALL1-VMFS.json | 435 +++++ .../v1phenopackets/Ling-2019-NHS-III_1.json | 223 +++ .../v1phenopackets/Lopez-2018-EP300-11.json | 487 +++++ .../v1phenopackets/Lopez-2018-EP300-38.json | 484 +++++ .../Luco-2016-DYRK1A-Patient_2.json | 371 ++++ .../v1phenopackets/Luo-2016-COMP-II-1.json | 221 +++ .../Lv-2016-TMEM38B-family2-patient2.json | 224 +++ .../v1phenopackets/Ma-2018-SPTA1-proband.json | 252 +++ .../Mackenroth-2016-ADAMTSL2-patient.json | 340 ++++ .../Magerus-Chatinet-2013-FASLG-patient.json | 297 ++++ .../Maghami-2018-FKBP10-proband.json | 228 +++ ...oli-2017-BRPF1-Individual_11_Family_F.json | 253 +++ .../Mazzucchelli-2011-LAMA3-Proband.json | 117 ++ .../Mei-2015-NIPBL-Patient_1.json | 297 ++++ .../Mei-2015-NIPBL-Patient_2.json | 237 +++ .../Metodiev-2016-TRMT10C-Subject_1.json | 370 ++++ .../Metodiev-2016-TRMT10C-Subject_2.json | 312 ++++ .../v1phenopackets/Miao-2018-CLCN1-man.json | 194 ++ .../Micaglio-2019-SCN5A-proband.json | 132 ++ .../Michalska-2018-GTF2H5-male_infant.json | 504 ++++++ .../v1phenopackets/Mokbel-2013-TPM2-1A.json | 162 ++ .../Montgomery-2015-AMN-III_1.json | 143 ++ .../v1phenopackets/Moosa-1799-MTOR-index.json | 222 +++ .../Moreau-Le_Lan-2018-ACTA1-Patient_5.json | 243 +++ .../Mundhofir-2013-FGFR2-Patient_1.json | 297 ++++ .../Mundhofir-2013-FGFR2-Patient_2.json | 327 ++++ .../Mwasamwaja-2018-TGFB1-patient.json | 284 +++ .../Nakajima-2013-B3GALT6-P7_F6.json | 545 ++++++ .../Naz_Villalba-2016-NLRP3-proband.json | 224 +++ .../Nellist-2009-TSC1-II_3_Family_2.json | 202 +++ ...domskyte-2017-SMAD3-54-year_old_woman.json | 116 ++ .../Nguyen-2017-NPHS1-patient_1.json | 246 +++ .../Nicole-2014-AGRN-Patient_3_Kinship_2.json | 324 ++++ .../Niihori-2006-BRAF-CFC16.json | 329 ++++ .../v1phenopackets/Ning-2015-MEN1-III-3.json | 313 ++++ .../Noch-2017-ATP13A2-Case_1.json | 268 +++ .../Ockeloen-2012-CFL2-_Patient_1.json | 269 +++ .../Okamoto-2018-ASPM-patient.json | 249 +++ .../v1phenopackets/Oud-2017-EXTL3-AII-1.json | 297 ++++ .../v1phenopackets/Oud-2017-EXTL3-BII-1.json | 477 +++++ .../v1phenopackets/Oud-2017-EXTL3-B_II-2.json | 507 ++++++ .../v1phenopackets/Oud-2017-EXTL3-C_II-1.json | 267 +++ .../v1phenopackets/Oud-2017-EXTL3-D_IV-1.json | 432 +++++ .../v1phenopackets/Oud-2017-EXTL3-E_II-1.json | 387 ++++ ...nastasiou-2010-STAT3-12_year_old_girl.json | 269 +++ .../Park-2014-DNM2-Patient_1.json | 268 +++ .../v1phenopackets/Park-2016-GSN-III_5.json | 177 ++ .../Pasic-2013-NBN-12-year-old_girl.json | 357 ++++ .../v1phenopackets/Pastor-2018-SAMD9L-P5.json | 117 ++ .../v1phenopackets/Pastor-2018-SAMD9L-P7.json | 117 ++ .../Patsi-2018-PNPLA6-18_year-old_female.json | 341 ++++ .../Paun-2013-RET-DM_patient.json | 131 ++ .../Pipilas-2016-CALM1-Case_2.json | 148 ++ .../Pipilas-2016-CALM2-Case_1.json | 147 ++ .../Prada-2014-CTSA-BAB3767.json | 299 ++++ .../v1phenopackets/Qin-2017-NRL-II_2.json | 147 ++ .../Rejeb-2017-VPS13B-proposita.json | 371 ++++ .../Reyes-de_la_Rosa-2018-JAG1-Proband.json | 358 ++++ .../Rincon-2019-WRN-48-year-old_male.json | 360 ++++ .../Ritelli-2013-COL5A1-AN_002501.json | 222 +++ .../Ritelli-2014-TGFB2-proposita.json | 313 ++++ .../Ritelli-2019-AEBP1-AN_006205.json | 433 +++++ .../Rohanizadegan-2018-DHCR24-proband.json | 598 +++++++ .../Romero-Quintana-2013-CTSC-Case_1P1.json | 177 ++ ...lanis-2016-ANTXR1-14_year_old_brother.json | 252 +++ .../Salpietro-2018-DDX59-Patient_1.json | 252 +++ .../Sandal-2018-CHST14-3-year_old_boy.json | 327 ++++ .../Savage-2016-FANCI-NCI-309-1.json | 233 +++ .../Sawal-2018-ADGRG1-Family_A,_II_2.json | 146 ++ ...Schaefer-2014-POLR1D-family_1_patient.json | 147 ++ .../Schormair-2018-VPS13C-VPS13C_case.json | 264 +++ .../Schreckenbach-2014-TPM3-II.2.json | 396 +++++ .../Schussler-2018-ANTXR2-II-3_.json | 282 +++ .../Schweizer-2014-HCN4-family_A_II_1.json | 132 ++ .../Seidlmayer-2018-RYR2-proband.json | 179 ++ .../Sekelska-2017-SPRED1-P62.json | 117 ++ ...ian-Morilla-2016-POGLUT1-Patient_II.1.json | 288 +++ .../Seven-2014-DYM-Patient_2.json | 191 ++ .../Shahid-2019-FERMT3-index.json | 149 ++ .../Shalaby-2009-MYOT-patient.json | 163 ++ .../Shen-2017-VPS13A-Patient-2.json | 234 +++ .../v1phenopackets/Sher-2014-CHSY1-IV-1.json | 329 ++++ .../Shervin_Badv-2019-ASAH1-patient.json | 284 +++ .../Shlebak-2015-GP1BA-Patient_3.json | 239 +++ .../Silva-2018-PREPL-proband.json | 357 ++++ ...-WDR26-Individual_1,_PPMD01P,_GEA055P.json | 894 ++++++++++ ...krabl-Baumgartner-2017-ADA2-patient_1.json | 293 +++ ...inek-2017-TBL1XR1-seven_year_old_male.json | 522 ++++++ .../Smith-2000-MITF-family_815.json | 177 ++ .../Smith-2017-ACP4-Family_1-IV_3.json | 117 ++ .../Snanoudj-2019-SERAC1-proband.json | 446 +++++ .../Soumittra-2014-SLC4A11-Patient_1.json | 115 ++ ...llner-2015-ADAMTS10-18-year-old_woman.json | 221 +++ .../Stouffs-2018-RTTN-Patient_3.json | 236 +++ .../Straniero-2018-OTUD6B-proband.json | 309 ++++ .../Suarez-Artiles-2018-OCRL-Patient_1.json | 208 +++ .../Suter-2016-USB1-patient.json | 191 ++ .../Szcza\305\202uba-2018-GNB1-proband.json" | 238 +++ .../Ta-Shma-2017-TMEM260-1-II-1.json | 441 +++++ .../Ta-Shma-2017-TMEM260-2-II-4.json | 378 ++++ .../Tadic-2017-CAPN1-Index.json | 192 ++ .../Taghizade_Mortezaee-2015-ITGB2-P1.json | 147 ++ .../Takagi-2006-WNK1-Patient.json | 298 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notebooks/LIRICAL/v1phenopackets/de_Vries-2012-FANCC-proband.json create mode 100644 notebooks/LIRICAL/v1phenopackets/van_Oorschot-2019-GFI1B-II_6.json diff --git a/notebooks/LIRICAL/LIRICAL.ipynb b/notebooks/LIRICAL/LIRICAL.ipynb new file mode 100644 index 000000000..99b902677 --- /dev/null +++ b/notebooks/LIRICAL/LIRICAL.ipynb @@ -0,0 +1,542 @@ +{ + "cells": [ + { + "cell_type": "markdown", + "id": "3f88f70c-970a-43d2-b03c-1b0676ad22bc", + "metadata": {}, + "source": [ + "

Convert LIRICAL's 384 Phenopackets to GA4GH Version 2 Format

\n", + "

Robinson PN, et al. (2020) Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. Am J Hum Genet. 2020 Sep 3;107(3):403-417 presented 384 phenopackets formated according to the GA4GH Phenopacket Schema version 1. This notebook converts those phenopackets to version 2 of the Phenopacket Schema.

\n", + "

We use the Python json package to input the V1 phenopackets and apply a series of corrections to ensure the V2 phenopackets are correctly formated.

" + ] + }, + { + "cell_type": "code", + "execution_count": 1, + "id": "33a1010e-60e4-4a96-b153-7a8cc9d9a5ff", + "metadata": {}, + "outputs": [], + "source": [ + "import phenopackets as PPKt\n", + "import json\n", + "import os\n", + "import re\n", + "from google import protobuf\n", + "from google.protobuf.json_format import MessageToJson\n", + "import time\n", + "import hpotk" + ] + }, + { + "cell_type": "markdown", + "id": "ff3ce5a5-0677-4c32-82cd-9df4b5312987", + "metadata": {}, + "source": [ + "

Import HPO object

" + ] + }, + { + "cell_type": "code", + "execution_count": 2, + "id": "a154a8eb-6f41-44d6-9e37-060dfa464169", + "metadata": {}, + "outputs": [], + "source": [ + "hpo = hpotk.load_ontology('http://purl.obolibrary.org/obo/hp.json')" + ] + }, + { + "cell_type": "markdown", + "id": "32ff6443-3ae0-4603-9f62-7f8c956a92b5", + "metadata": {}, + "source": [ + "### Get all 384 json files" + ] + }, + { + "cell_type": "code", + "execution_count": 5, + "id": "fa8afc86-540a-4a59-8328-6bcb4746336b", + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "Extracted total of 384 V1 Phenopacket V1 files\n" + ] + } + ], + "source": [ + "from os import listdir\n", + "from os.path import isfile, join\n", + "v1dir = \"v1phenopackets\"\n", + "jsonfiles = [f for f in listdir(v1dir) if isfile(join(v1dir, f)) and f.endswith(\"json\")]\n", + "print(f\"Extracted total of {len(jsonfiles)} V1 Phenopacket V1 files\")" + ] + }, + { + "cell_type": "markdown", + "id": "19f2659b-9ac5-4e5e-a683-3194bc56a82a", + "metadata": {}, + "source": [ + "### Create JSON objects from JSON files" + ] + }, + { + "cell_type": "code", + "execution_count": 6, + "id": "8d42f9eb-f80e-4c51-b6dc-dc22d07ad8b8", + "metadata": {}, + "outputs": [], + "source": [ + "def get_json_object(fname, dirname):\n", + " fpath = join(dirname, fname)\n", + " if not isfile(fpath):\n", + " raise FileNotFoundError(f\"Could not find {fpath}\")\n", + " with open(fpath, \"r\") as f:\n", + " json_string = f.read()\n", + " json_dict = json.loads(json_string)\n", + " return json_dict" + ] + }, + { + "cell_type": "code", + "execution_count": 7, + "id": "b2d1c6d3-cdf1-469a-a4d0-c5bf416b95f0", + "metadata": {}, + "outputs": [], + "source": [ + "def get_id(json_dict):\n", + " if 'id' not in json_dict:\n", + " raise ValueError(\"Could not extract id field\")\n", + " else:\n", + " return json_dict.get('id')" + ] + }, + { + "cell_type": "code", + "execution_count": 8, + "id": "3417ffd0-1859-4a35-bd2f-99d2a6d24517", + "metadata": {}, + "outputs": [], + "source": [ + "def validate_age(ageString):\n", + " \"\"\"\n", + " return true if we can parse age as an ISO 8601 Period\n", + " \"\"\"\n", + " if ageString == \"N/A\":\n", + " return False\n", + " # first check if the string contains digits\n", + " _digits = re.compile('\\d')\n", + " if not bool(_digits.search(ageString)):\n", + " print(f\"invalid ageString {ageString}\")\n", + " return False\n", + " # now check that the string conforms to ISO 8601, e.g. P34Y2M\n", + " match = re.match(\n", + " r'P((?P\\d+)Y)?((?P\\d+)M)?((?P\\d+)W)?((?P\\d+)D)?(T((?P\\d+)H)?((?P\\d+)M)?((?P\\d+)S)?)?',\n", + " ageString\n", + " )\n", + " return match" + ] + }, + { + "cell_type": "code", + "execution_count": 9, + "id": "a2a68ac7-335d-4154-a16e-5c5376e3f3a7", + "metadata": {}, + "outputs": [], + "source": [ + "def get_subject(json_dict):\n", + " if 'subject' not in json_dict:\n", + " raise ValueError(\"Could not extract id field\")\n", + " subject = json_dict.get('subject')\n", + " proband_id = subject.get('id', None)\n", + " ageAtCollection = subject.get('ageAtCollection', None)\n", + " invalid_age_strings = { \"N/A\", \"ADULT\", \"FETUS\" }\n", + " if ageAtCollection is not None:\n", + " iso_age = ageAtCollection.get('age', None)\n", + " iso_age = iso_age.upper()\n", + " if not iso_age in invalid_age_strings:\n", + " if not iso_age.startswith(\"P\"): \n", + " iso_age = \"P\" + iso_age\n", + " if not validate_age(iso_age):\n", + " print(f\"Could not validate age for {proband_id}: \\\"{iso_age}\\\", will omit\")\n", + " iso_age = None\n", + " else:\n", + " iso_age = None\n", + " \n", + " sex = subject.get('sex', 'UNKNOWN_SEX')\n", + " return proband_id, iso_age, sex\n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 10, + "id": "c83698bb-a15f-4a6c-81eb-cf10c93bde09", + "metadata": {}, + "outputs": [], + "source": [ + "def get_phenotypic_features_list(json_dict):\n", + " if 'phenotypicFeatures' not in json_dict:\n", + " raise ValueError(\"Could not extract phenotypicFeatures field\")\n", + " pfeature_list = []\n", + " for pfeat in json_dict.get('phenotypicFeatures'):\n", + " pfeature = PPKt.PhenotypicFeature()\n", + " ontology_term = pfeat.get('type')\n", + " ontology_id = ontology_term.get('id')\n", + " ontology_label = ontology_term.get('label')\n", + " # The following code uses the HPO to update outdated term IDs and labels\n", + " if ontology_id in hpo:\n", + " hpo_term = hpo.get_term(ontology_id)\n", + " ontology_id = hpo_term.identifier\n", + " ontology_label = hpo_term.name\n", + " hpo_term = PPKt.OntologyClass()\n", + " hpo_term.id = ontology_id.value\n", + " hpo_term.label = ontology_label\n", + " pfeature.type.CopyFrom(hpo_term)\n", + " if 'excluded' in pfeat:\n", + " pfeature.excluded = pfeat.excluded\n", + " evidence_list = pfeat.get('evidence')\n", + " # The 384 v1 phenopackets always have exactly one evidence element\n", + " # do not check here, things will crash if we were wrong\n", + " evidence = evidence_list[0]\n", + " evidence_code = evidence.get('evidenceCode')\n", + " evidence_term = PPKt.OntologyClass()\n", + " evidence_term.id = evidence_code.get('id')\n", + " evidence_term.label = evidence_code.get('label')\n", + " evi = PPKt.Evidence()\n", + " evi.evidence_code.CopyFrom(evidence_term)\n", + " reference_json = evidence.get('reference')\n", + " if reference_json is not None:\n", + " ref = PPKt.ExternalReference()\n", + " ref.id = reference_json.get('id')\n", + " ref.description = reference_json.get('description')\n", + " evi.reference.CopyFrom(ref)\n", + " pfeature.evidence.append(evi)\n", + " pfeature_list.append(pfeature)\n", + " return pfeature_list" + ] + }, + { + "cell_type": "markdown", + "id": "9f2ecee5-e97a-4e6a-ae0e-7a360b6b36ae", + "metadata": {}, + "source": [ + "

Disease

\n", + "

This is the format of the disease entries in the V1 schema.

\n", + "
'diseases': [{'term': {'id': 'OMIM:191900', 'label': 'MUCKLE-WELLS SYNDROME; MWS'}}]
" + ] + }, + { + "cell_type": "code", + "execution_count": 11, + "id": "717b8899-3fa3-4712-b8ae-cbedbc6f183e", + "metadata": {}, + "outputs": [], + "source": [ + "def get_disease(json_dict):\n", + " if not 'diseases' in json_dict:\n", + " raise ValueError(\"Could not extract disease field\")\n", + " disease_list = json_dict.get('diseases')\n", + " if len(disease_list) != 1:\n", + " raise ValueError(f\"Got bad number of diseases, {len(disease_list)}\")\n", + " disease_object = disease_list[0]\n", + " return disease_object.get('term')" + ] + }, + { + "cell_type": "code", + "execution_count": 12, + "id": "06ab9fdb-2ee1-4d68-87e8-d78a09295f3b", + "metadata": {}, + "outputs": [], + "source": [ + "def get_gene(json_dict):\n", + " \"\"\"\n", + " We expect one and only one gene here\n", + " \"\"\"\n", + " if not 'genes' in json_dict:\n", + " raise ValueError(\"Could not extract genes field\")\n", + " gene_list = json_dict.get('genes')\n", + " if len(gene_list) != 1:\n", + " raise ValueError(f\"Got bad number of genes, {len(gene_list)}\")\n", + " return gene_list[0]" + ] + }, + { + "cell_type": "markdown", + "id": "64f2a698-1931-414d-abcd-c0d5ec64b2a8", + "metadata": {}, + "source": [ + "

Variants in v1 phenopacket

\n", + "

This is the format of the variants entries in the V1 schema.

\n", + "\n", + "
\n",
+    " 'variants': [{'vcfAllele': {'genomeAssembly': 'GRCh37', 'chr': '1', 'pos': 247587794, 'ref': 'C', 'alt': 'T'}, \n",
+    "    'zygosity': {'id': 'GENO:0000135', 'label': 'heterozygous'}}]\n",
+    " 
" + ] + }, + { + "cell_type": "code", + "execution_count": 13, + "id": "c488dc42-0868-49e0-8f4d-286c1c8dead3", + "metadata": {}, + "outputs": [], + "source": [ + "def get_one_ga4gh_interpretation(vcf_allele, zygosity, gene, disease, var_id):\n", + " vdescriptor = PPKt.VariationDescriptor()\n", + " vdescriptor.id = var_id\n", + " vdescriptor.gene_context.value_id = gene.get('id')\n", + " vdescriptor.gene_context.symbol = gene.get('symbol')\n", + " vdescriptor.molecule_context = PPKt.MoleculeContext.genomic\n", + " vdescriptor.allelic_state.id = zygosity.get('id')\n", + " vdescriptor.allelic_state.label = zygosity.get('label')\n", + " vinterpretation = PPKt.VariantInterpretation() \n", + " vcf_record = PPKt.VcfRecord()\n", + " vcf_record.genome_assembly = vcf_allele.get('genomeAssembly')\n", + " vcf_record.chrom = vcf_allele.get('chr')\n", + " vcf_record.pos = vcf_allele.get('pos')\n", + " vcf_record.ref = vcf_allele.get('ref')\n", + " vcf_record.alt = vcf_allele.get('alt')\n", + " vdescriptor.vcf_record.CopyFrom(vcf_record)\n", + " vinterpretation.variation_descriptor.CopyFrom(vdescriptor)\n", + " return vinterpretation" + ] + }, + { + "cell_type": "code", + "execution_count": 14, + "id": "f89c45dc-5e3d-421e-9633-3963754b21df", + "metadata": {}, + "outputs": [], + "source": [ + "def get_interpretation(json_dict, gene, disease, individual_id):\n", + " if not 'variants' in json_dict:\n", + " raise ValueError(\"Could not find variants\")\n", + " ga4gh_var_list = []\n", + " i = 0\n", + " for v in json_dict.get('variants'):\n", + " if 'vcfAllele' not in v:\n", + " raise ValueError(\"Malformed variant\")\n", + " if 'zygosity' not in v:\n", + " raise ValueError(\"Malformed variant - no zygosity\")\n", + " vcf_allele = v.get('vcfAllele')\n", + " zygosity = v.get('zygosity')\n", + " i += 1\n", + " var_id = f\"variant-{i}\"\n", + " ga4gh_int = get_one_ga4gh_interpretation(vcf_allele, zygosity, gene, disease, var_id)\n", + " ga4gh_var_list.append(ga4gh_int)\n", + " interpretation = PPKt.Interpretation()\n", + " interpretation.id = \"interpretation-id\"\n", + " interpretation.progress_status = PPKt.Interpretation.ProgressStatus.SOLVED\n", + " interpretation.diagnosis.disease.id = disease.get('id')\n", + " interpretation.diagnosis.disease.label = disease.get('label')\n", + " for var in ga4gh_var_list:\n", + " genomic_interpretation = PPKt.GenomicInterpretation()\n", + " genomic_interpretation.subject_or_biosample_id = individual_id\n", + " # by assumption, variants passed to this package are all causative\n", + " genomic_interpretation.interpretation_status = PPKt.GenomicInterpretation.InterpretationStatus.CAUSATIVE\n", + " genomic_interpretation.variant_interpretation.CopyFrom(var)\n", + " interpretation.diagnosis.genomic_interpretations.append(genomic_interpretation)\n", + " return interpretation " + ] + }, + { + "cell_type": "markdown", + "id": "b3146193-6f7a-490a-896d-be6ac5a37aaa", + "metadata": {}, + "source": [ + "

Metadata (V1)

" + ] + }, + { + "cell_type": "code", + "execution_count": 15, + "id": "abd90fb5-ca2e-439c-a338-a4bb25b1dcdc", + "metadata": {}, + "outputs": [], + "source": [ + "def get_metadata(json_dict):\n", + " if not 'metaData' in json_dict:\n", + " raise ValueError(\"Could not find metaData\")\n", + " metadata = json_dict.get('metaData')\n", + " createdBy = metadata.get('createdBy', 'n/a')\n", + " submittedBy = metadata.get('submittedBy')\n", + " ga4gh_metadata = PPKt.MetaData()\n", + " resources = []\n", + " for res in metadata.get('resources'):\n", + " if res.get('id') == 'ncbitaxon':\n", + " continue # superfluous to add taxon H. sapiens in thius context and we do not have iriPREFIX for this resource\n", + " ga4gh_resource = PPKt.Resource()\n", + " ga4gh_resource.id = res.get('id')\n", + " ga4gh_resource.name = res.get('name')\n", + " ga4gh_resource.url = res.get('url')\n", + " ga4gh_resource.version = res.get('version', 'n/a')\n", + " ga4gh_resource.namespace_prefix = res.get('namespacePrefix')\n", + " ga4gh_resource.iri_prefix = res.get('iriPrefix', 'n/a')\n", + " ga4gh_metadata.resources.append(ga4gh_resource)\n", + " ga4gh_metadata.created_by = createdBy\n", + " if submittedBy is not None:\n", + " ga4gh_metadata.submitted_by = submittedBy\n", + " now = time.time()\n", + " seconds = int(now)\n", + " nanos = int((now - seconds) * 10 ** 9)\n", + " timestamp = protobuf.timestamp_pb2.Timestamp(seconds=seconds, nanos=nanos)\n", + " ga4gh_metadata.created.CopyFrom(timestamp)\n", + " ga4gh_metadata.phenopacket_schema_version = \"2.0\"\n", + " for res in resources:\n", + " metadata.resources.append(res)\n", + " return ga4gh_metadata" + ] + }, + { + "cell_type": "code", + "execution_count": 16, + "id": "62022748-1fc4-47b2-b298-9d4443943510", + "metadata": {}, + "outputs": [], + "source": [ + "def construct_v2_phenopacket(json_dict):\n", + " id = get_id(json_dict)\n", + " proband_id, iso_age, sex= get_subject(json_dict)\n", + " pfeatures_list = get_phenotypic_features_list(json_dict)\n", + " gene = get_gene(json_dict)\n", + " disease = get_disease(json_dict)\n", + " interpretation = get_interpretation(json_dict, gene, disease, proband_id)\n", + " # Create phenopacket\n", + " phenopacket = PPKt.Phenopacket()\n", + " phenopacket.id = id\n", + " proband = PPKt.Individual()\n", + " proband.id = proband_id\n", + " if sex == \"MALE\":\n", + " proband.sex = PPKt.Sex.MALE\n", + " elif sex == \"FEMALE\":\n", + " proband.sex = PPKt.Sex.FEMALE\n", + " else:\n", + " proband.sex = PPKt.Sex.UNKNOWN_SEX\n", + " if iso_age is not None:\n", + " proband.time_at_last_encounter.age.iso8601duration = iso_age\n", + " phenopacket.subject.CopyFrom(proband)\n", + " for pf in pfeatures_list:\n", + " phenopacket.phenotypic_features.append(pf)\n", + " phenopacket.interpretations.append(interpretation)\n", + " metadata = get_metadata(json_dict)\n", + " phenopacket.meta_data.CopyFrom(metadata)\n", + " return phenopacket\n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 17, + "id": "be420e84-8e20-4ebf-b703-ab4b257e6cc5", + "metadata": {}, + "outputs": [], + "source": [ + "def output_phenopacket(json_dict, output_dir):\n", + " ppack = construct_v2_phenopacket(json_dict)\n", + " json_string = MessageToJson(ppack)\n", + " pp_id = ppack.id\n", + " fname = pp_id.replace(\" \", \"\").replace(\":\", \"_\")\n", + " fname = re.sub('[^A-Za-z0-9_-]', '', fname) # remove any illegal characters from filename\n", + " fname = fname.replace(\" \", \"_\") + \".json\"\n", + " outpth = os.path.join(output_dir, fname)\n", + " with open(outpth, \"wt\") as fh:\n", + " fh.write(json_string)" + ] + }, + { + "cell_type": "markdown", + "id": "a1124962-d861-43be-be8a-8521fa2b3868", + "metadata": {}, + "source": [ + "

Output

\n", + "

Here we output the 384 phenopackets in version 2 format. Some of the original files do not have a valid age string, and so they produce a warning during the output. This can be ignored, the corresponding cases our output without an age (which is not required)." + ] + }, + { + "cell_type": "code", + "execution_count": 18, + "id": "cdf192e7-66fe-4f70-bfdd-82688994bd7b", + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "................................................................................................................................................................................................................................................................................................................................................................................................\n", + "Output 384 phenopackets\n" + ] + } + ], + "source": [ + "out_dir = \"v2phenopackets\"\n", + "v1dir = \"v1phenopackets\"\n", + "os.makedirs(out_dir, exist_ok=True)\n", + "n = 0\n", + "for json_file in jsonfiles:\n", + " json_dict = get_json_object(json_file, v1dir)\n", + " output_phenopacket(json_dict, out_dir)\n", + " print(\".\", end=\"\")\n", + " n += 1\n", + "print(f\"\\nOutput {n} phenopackets\")" + ] + }, + { + "cell_type": "markdown", + "id": "6c535af8-e15e-4f84-890f-79df3df0cead", + "metadata": {}, + "source": [ + "

Where to go from here

\n", + "

Use phenopacket tools to check the output V2 phenopackets.

\n", + "

I checked the phenopackets with pxf validate *.json and everything was OK (no errors reported).

" + ] + }, + { + "cell_type": "markdown", + "id": "a5ce98dd-d164-4b21-9b09-fbfa0f061ea7", + "metadata": {}, + "source": [ + "
\n",
+    "pxf validate --hpo /Users/robinp/data/hpo/hp.json *.json | cut -f3 -d,  errors.csv | sort | uniq\n",
+    "HpoAncestryValidator\n",
+    "HpoUniqueValidator\n",
+    "more than once but the feature was present 2 times\"\n",
+    "
\n", + "

This means that the phenopackets may have redundant entries,but the term ids are up to date.

" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "3af17457-c57e-4af2-a819-3a9b06043a06", + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "Python 3 (ipykernel)", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.10.12" + } + }, + "nbformat": 4, + "nbformat_minor": 5 +} diff --git a/notebooks/LIRICAL/v1phenopackets/Abdul_Wahab-2016-GCDH-Patient_5.json b/notebooks/LIRICAL/v1phenopackets/Abdul_Wahab-2016-GCDH-Patient_5.json new file mode 100644 index 000000000..1d386fcf1 --- /dev/null +++ b/notebooks/LIRICAL/v1phenopackets/Abdul_Wahab-2016-GCDH-Patient_5.json @@ -0,0 +1,162 @@ +{ + "id": "PMID:27672653-Abdul_Wahab-2016-GCDH-Patient_5", + "subject": { + "id": "Patient 5", + "ageAtCollection": { + "age": "P14Y" + }, + "sex": "FEMALE", + "taxonomy": { + "id": "NCBITaxon:9606", + "label": "Homo sapiens" + } + }, + "phenotypicFeatures": [{ + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0100309", + "label": "Subdural hemorrhage" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0003150", + "label": "Glutaric aciduria" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }], + "genes": [{ + "id": "NCBIGene:2639", + "symbol": "GCDH" + }], + "variants": [{ + "vcfAllele": { + "genomeAssembly": "GRCh37", + "chr": "19", + "pos": 13007113, + "ref": "G", + "alt": "A" + }, + "zygosity": { + "id": "GENO:0000136", + "label": "homozygous" + } + }], + "diseases": [{ + "term": { + "id": "OMIM:231670", + "label": "GLUTARIC ACIDEMIA I" + } + }], + "metaData": { + "createdBy": "Hpo Case Annotator : 1.0.13-SNAPSHOT", + "submittedBy": "HPO:probinson", + "resources": [{ + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2018-03-08", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, { + "id": "pato", + "name": "Phenotype And Trait Ontology", + "url": "http://purl.obolibrary.org/obo/pato.owl", + "version": "2018-03-28", + "namespacePrefix": "PATO", + "iriPrefix": "http://purl.obolibrary.org/obo/PATO_" + }, { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "19-03-2018", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, { + "id": "ncbitaxon", + "name": "NCBI organismal classification", + "url": "http://purl.obolibrary.org/obo/ncbitaxon.owl", + "version": "2018-03-02", + "namespacePrefix": "NCBITaxon" + }, { + "id": "eco", + "name": "Evidence and Conclusion Ontology", + "url": "http://purl.obolibrary.org/obo/eco.owl", + "version": "2018-11-10", + "namespacePrefix": "ECO", + "iriPrefix": "http://purl.obolibrary.org/obo/ECO_" + }, { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "namespacePrefix": "OMIM" + }], + "phenopacketSchemaVersion": "1.0.0-RC3", + "externalReferences": [{ + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + }] + } +} \ No newline at end of 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