From 676a4b1c8bc1259d3e4f99fbd0ad581a8c185c14 Mon Sep 17 00:00:00 2001 From: Peter Robinson Date: Tue, 12 Dec 2023 15:07:46 +0100 Subject: [PATCH] Removing redundant phenopacket generation code --- ...nez_PMID_36446582_CreatePhenopackets.ipynb | 1330 ----------------- .../input/Martinez-KBG-SupplTable-340-v2.xlsx | Bin 51865 -> 0 bytes .../input/Martinez-KBG-SupplTable-340.xlsx | Bin 143628 -> 0 bytes ...2019.json => PMID_36446582_Alves2019.json} | 50 +- .../PMID_36446582_Behnert2018.json | 173 +++ .../PMID_36446582_Behnert_2018.json | 242 --- ...18.json => PMID_36446582_Bianchi2018.json} | 115 +- .../PMID_36446582_Bucerzan2020.json | 117 +- .../PMID_36446582_Crippa2015_P1.json | 117 +- .../PMID_36446582_Crippa2015_P2.json | 117 +- .../PMID_36446582_Crippa2015_P3.json | 96 +- ...n => PMID_36446582_Cucco2020PatientB.json} | 101 +- .../PMID_36446582_DeBernardi2018.json | 104 +- ....json => PMID_36446582_Gnazzo2020_P1.json} | 75 +- ...json => PMID_36446582_Gnazzo2020_P10.json} | 84 +- ...json => PMID_36446582_Gnazzo2020_P11.json} | 84 +- ...json => PMID_36446582_Gnazzo2020_P12.json} | 94 +- ...json => PMID_36446582_Gnazzo2020_P13.json} | 84 +- ...json => PMID_36446582_Gnazzo2020_P14.json} | 87 +- ...json => PMID_36446582_Gnazzo2020_P15.json} | 112 +- ...json => PMID_36446582_Gnazzo2020_P16.json} | 89 +- ...json => PMID_36446582_Gnazzo2020_P17.json} | 71 +- ...json => PMID_36446582_Gnazzo2020_P18.json} | 84 +- ...json => PMID_36446582_Gnazzo2020_P19.json} | 96 +- ....json => PMID_36446582_Gnazzo2020_P2.json} | 75 +- ...json => PMID_36446582_Gnazzo2020_P20.json} | 89 +- ...json => PMID_36446582_Gnazzo2020_P21.json} | 89 +- ...json => PMID_36446582_Gnazzo2020_P22.json} | 80 +- ...json => PMID_36446582_Gnazzo2020_P23.json} | 92 +- ...json => PMID_36446582_Gnazzo2020_P24.json} | 99 +- ...json => PMID_36446582_Gnazzo2020_P25.json} | 80 +- ...json => PMID_36446582_Gnazzo2020_P26.json} | 89 +- ...json => PMID_36446582_Gnazzo2020_P27.json} | 90 +- ...json => PMID_36446582_Gnazzo2020_P28.json} | 99 +- .../PMID_36446582_Gnazzo2020_P29.json | 129 ++ ....json => PMID_36446582_Gnazzo2020_P3.json} | 80 +- .../PMID_36446582_Gnazzo2020_P30.json | 141 ++ ...json => PMID_36446582_Gnazzo2020_P31.json} | 98 +- ....json => PMID_36446582_Gnazzo2020_P4.json} | 75 +- ....json => PMID_36446582_Gnazzo2020_P5.json} | 84 +- ....json => PMID_36446582_Gnazzo2020_P6.json} | 94 +- ....json => PMID_36446582_Gnazzo2020_P7.json} | 89 +- ....json => PMID_36446582_Gnazzo2020_P8.json} | 74 +- ....json => PMID_36446582_Gnazzo2020_P9.json} | 86 +- .../PMID_36446582_Gnazzo_2020_P29.json | 163 -- .../PMID_36446582_Gnazzo_2020_P30.json | 185 --- .../PMID_36446582_Goldenberg2016_P1.json | 78 +- .../PMID_36446582_Goldenberg2016_P10.json | 79 +- .../PMID_36446582_Goldenberg2016_P11.json | 54 +- .../PMID_36446582_Goldenberg2016_P12.json | 74 +- .../PMID_36446582_Goldenberg2016_P13.json | 59 +- .../PMID_36446582_Goldenberg2016_P14.json | 54 +- .../PMID_36446582_Goldenberg2016_P15.json | 49 +- .../PMID_36446582_Goldenberg2016_P16.json | 49 +- .../PMID_36446582_Goldenberg2016_P17.json | 64 +- .../PMID_36446582_Goldenberg2016_P18.json | 78 +- .../PMID_36446582_Goldenberg2016_P19.json | 82 +- .../PMID_36446582_Goldenberg2016_P2.json | 78 +- .../PMID_36446582_Goldenberg2016_P20.json | 73 +- .../PMID_36446582_Goldenberg2016_P21.json | 87 +- .../PMID_36446582_Goldenberg2016_P22.json | 92 +- .../PMID_36446582_Goldenberg2016_P23.json | 66 +- .../PMID_36446582_Goldenberg2016_P24.json | 108 +- .../PMID_36446582_Goldenberg2016_P25.json | 78 +- .../PMID_36446582_Goldenberg2016_P26.json | 65 +- .../PMID_36446582_Goldenberg2016_P27.json | 64 +- .../PMID_36446582_Goldenberg2016_P28.json | 88 +- .../PMID_36446582_Goldenberg2016_P29.json | 89 +- .../PMID_36446582_Goldenberg2016_P3.json | 61 +- .../PMID_36446582_Goldenberg2016_P30.json | 75 +- .../PMID_36446582_Goldenberg2016_P31.json | 47 +- .../PMID_36446582_Goldenberg2016_P32.json | 96 +- .../PMID_36446582_Goldenberg2016_P33.json | 103 +- .../PMID_36446582_Goldenberg2016_P34.json | 54 +- .../PMID_36446582_Goldenberg2016_P35.json | 60 +- .../PMID_36446582_Goldenberg2016_P36.json | 74 +- .../PMID_36446582_Goldenberg2016_P38.json | 55 +- .../PMID_36446582_Goldenberg2016_P39.json | 53 +- .../PMID_36446582_Goldenberg2016_P4.json | 70 +- .../PMID_36446582_Goldenberg2016_P5.json | 87 +- .../PMID_36446582_Goldenberg2016_P6.json | 72 +- .../PMID_36446582_Goldenberg2016_P7.json | 84 +- .../PMID_36446582_Goldenberg2016_P8.json | 72 +- .../PMID_36446582_Goldenberg2016_P9.json | 62 +- .../PMID_36446582_Isrie2012_P1.json | 153 ++ .../PMID_36446582_Isrie2012_P2.json | 154 ++ .../PMID_36446582_Isrie_2012_P1.json | 207 --- .../PMID_36446582_Isrie_2012_P2.json | 208 --- ....json => PMID_36446582_JinKim2020_P1.json} | 81 +- ....json => PMID_36446582_JinKim2020_P2.json} | 87 +- .../KBG/phenopackets/PMID_36446582_KBG1.json | 100 +- .../phenopackets/PMID_36446582_KBG10A.json | 72 +- .../phenopackets/PMID_36446582_KBG10B.json | 102 +- .../KBG/phenopackets/PMID_36446582_KBG11.json | 148 +- .../KBG/phenopackets/PMID_36446582_KBG12.json | 143 +- .../KBG/phenopackets/PMID_36446582_KBG13.json | 142 +- .../KBG/phenopackets/PMID_36446582_KBG14.json | 116 +- .../KBG/phenopackets/PMID_36446582_KBG15.json | 142 +- .../KBG/phenopackets/PMID_36446582_KBG16.json | 142 +- .../KBG/phenopackets/PMID_36446582_KBG17.json | 142 +- .../KBG/phenopackets/PMID_36446582_KBG18.json | 142 +- .../KBG/phenopackets/PMID_36446582_KBG19.json | 125 +- .../KBG/phenopackets/PMID_36446582_KBG2.json | 101 +- .../KBG/phenopackets/PMID_36446582_KBG20.json | 130 +- .../KBG/phenopackets/PMID_36446582_KBG21.json | 139 +- .../KBG/phenopackets/PMID_36446582_KBG22.json | 163 +- .../KBG/phenopackets/PMID_36446582_KBG23.json | 181 +-- .../KBG/phenopackets/PMID_36446582_KBG24.json | 122 +- .../KBG/phenopackets/PMID_36446582_KBG25.json | 179 +-- .../KBG/phenopackets/PMID_36446582_KBG26.json | 160 +- .../KBG/phenopackets/PMID_36446582_KBG27.json | 136 +- .../KBG/phenopackets/PMID_36446582_KBG28.json | 148 +- .../KBG/phenopackets/PMID_36446582_KBG29.json | 152 +- .../KBG/phenopackets/PMID_36446582_KBG3.json | 64 +- .../KBG/phenopackets/PMID_36446582_KBG30.json | 154 +- .../phenopackets/PMID_36446582_KBG31A.json | 129 +- .../phenopackets/PMID_36446582_KBG31B.json | 99 -- .../KBG/phenopackets/PMID_36446582_KBG32.json | 131 +- .../KBG/phenopackets/PMID_36446582_KBG33.json | 132 +- .../KBG/phenopackets/PMID_36446582_KBG34.json | 106 +- .../KBG/phenopackets/PMID_36446582_KBG35.json | 111 +- .../KBG/phenopackets/PMID_36446582_KBG36.json | 107 +- .../KBG/phenopackets/PMID_36446582_KBG37.json | 125 +- .../KBG/phenopackets/PMID_36446582_KBG38.json | 144 +- .../KBG/phenopackets/PMID_36446582_KBG39.json | 68 +- .../KBG/phenopackets/PMID_36446582_KBG4.json | 110 +- .../KBG/phenopackets/PMID_36446582_KBG40.json | 51 +- .../KBG/phenopackets/PMID_36446582_KBG41.json | 31 +- .../KBG/phenopackets/PMID_36446582_KBG42.json | 175 --- .../KBG/phenopackets/PMID_36446582_KBG43.json | 80 +- .../KBG/phenopackets/PMID_36446582_KBG44.json | 133 +- .../KBG/phenopackets/PMID_36446582_KBG45.json | 128 +- .../KBG/phenopackets/PMID_36446582_KBG46.json | 164 +- .../KBG/phenopackets/PMID_36446582_KBG47.json | 101 +- .../KBG/phenopackets/PMID_36446582_KBG48.json | 133 +- .../KBG/phenopackets/PMID_36446582_KBG49.json | 123 +- .../KBG/phenopackets/PMID_36446582_KBG5.json | 33 +- .../KBG/phenopackets/PMID_36446582_KBG50.json | 132 +- .../KBG/phenopackets/PMID_36446582_KBG51.json | 145 +- .../KBG/phenopackets/PMID_36446582_KBG52.json | 147 +- .../KBG/phenopackets/PMID_36446582_KBG53.json | 143 +- .../KBG/phenopackets/PMID_36446582_KBG54.json | 114 +- .../KBG/phenopackets/PMID_36446582_KBG55.json | 132 +- .../KBG/phenopackets/PMID_36446582_KBG56.json | 152 +- .../KBG/phenopackets/PMID_36446582_KBG57.json | 156 +- .../KBG/phenopackets/PMID_36446582_KBG58.json | 166 +- .../KBG/phenopackets/PMID_36446582_KBG59.json | 133 +- .../KBG/phenopackets/PMID_36446582_KBG6.json | 128 +- .../KBG/phenopackets/PMID_36446582_KBG62.json | 142 +- .../KBG/phenopackets/PMID_36446582_KBG63.json | 152 +- .../KBG/phenopackets/PMID_36446582_KBG64.json | 52 +- .../KBG/phenopackets/PMID_36446582_KBG65.json | 138 +- .../KBG/phenopackets/PMID_36446582_KBG66.json | 105 +- .../KBG/phenopackets/PMID_36446582_KBG7.json | 148 +- .../KBG/phenopackets/PMID_36446582_KBG8A.json | 120 +- .../KBG/phenopackets/PMID_36446582_KBG8B.json | 94 +- .../KBG/phenopackets/PMID_36446582_KBG9.json | 146 +- ...son => PMID_36446582_Khalifa2013_P1A.json} | 139 +- ...son => PMID_36446582_Khalifa2013_P1B.json} | 110 +- ..._P1.json => PMID_36446582_Kim2015_P1.json} | 100 +- ..._P2.json => PMID_36446582_Kim2015_P2.json} | 109 +- ..._P3.json => PMID_36446582_Kim2015_P3.json} | 85 +- ...16.json => PMID_36446582_Kleyner2016.json} | 108 +- ...36446582_Kutkowska-Kazmierczak2021_P1.json | 55 +- 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...36446582_Kutkowska-Kazmierczak2021_P6.json | 80 +- ...36446582_Kutkowska-Kazmierczak2021_P7.json | 49 +- ...36446582_Kutkowska-Kazmierczak2021_P8.json | 72 +- ...36446582_Kutkowska-Kazmierczak2021_P9.json | 67 +- .../PMID_36446582_Libianto2019.json | 100 +- .../phenopackets/PMID_36446582_Lim2014.json | 123 +- ...).json => PMID_36446582_Low2016_3028.json} | 62 +- ...).json => PMID_36446582_Low2016_3129.json} | 63 +- ...).json => PMID_36446582_Low2016_3230.json} | 53 +- ...).json => PMID_36446582_Low2016_3331.json} | 66 +- ...).json => PMID_36446582_Low2016_3432.json} | 64 +- ....json => PMID_36446582_Low2016_P1018.json} | 64 +- ....json => PMID_36446582_Low2016_P1120.json} | 61 +- ...).json => PMID_36446582_Low2016_P119.json} | 66 +- ....json => PMID_36446582_Low2016_P1213.json} | 55 +- ....json => PMID_36446582_Low2016_P1327.json} | 69 +- ...).json => PMID_36446582_Low2016_P142.json} | 64 +- ...).json => PMID_36446582_Low2016_P153.json} | 66 +- ...).json => PMID_36446582_Low2016_P169.json} | 58 +- ....json => PMID_36446582_Low2016_P1710.json} | 75 +- ....json => PMID_36446582_Low2016_P1812.json} | 67 +- ....json => PMID_36446582_Low2016_P2014.json} | 66 +- ....json => PMID_36446582_Low2016_P2115.json} | 66 +- ....json => PMID_36446582_Low2016_P2216.json} | 66 +- ...).json => PMID_36446582_Low2016_P226.json} | 57 +- ....json => PMID_36446582_Low2016_P2317.json} | 56 +- ....json => PMID_36446582_Low2016_P2421.json} | 53 +- ....json => PMID_36446582_Low2016_P2522.json} | 53 +- ....json => PMID_36446582_Low2016_P2623.json} | 61 +- ....json => PMID_36446582_Low2016_P2724.json} | 64 +- ....json => PMID_36446582_Low2016_P2825.json} | 67 +- ....json => PMID_36446582_Low2016_P2927.json} | 64 +- ...4).json => PMID_36446582_Low2016_P34.json} | 53 +- ...5).json => PMID_36446582_Low2016_P45.json} | 64 +- ...6).json => PMID_36446582_Low2016_P56.json} | 64 +- ...7).json => PMID_36446582_Low2016_P67.json} | 55 +- .../PMID_36446582_Low2016_P78.json | 136 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.../PMID_36446582_Ockeloen2015_P1.json | 68 +- .../PMID_36446582_Ockeloen2015_P10.json | 61 +- .../PMID_36446582_Ockeloen2015_P11.json | 71 +- .../PMID_36446582_Ockeloen2015_P12.json | 72 +- .../PMID_36446582_Ockeloen2015_P13.json | 61 +- .../PMID_36446582_Ockeloen2015_P14.json | 87 +- .../PMID_36446582_Ockeloen2015_P15.json | 66 +- .../PMID_36446582_Ockeloen2015_P16.json | 63 +- .../PMID_36446582_Ockeloen2015_P17.json | 76 +- .../PMID_36446582_Ockeloen2015_P18.json | 61 +- .../PMID_36446582_Ockeloen2015_P19.json | 61 +- .../PMID_36446582_Ockeloen2015_P2.json | 73 +- .../PMID_36446582_Ockeloen2015_P20.json | 97 +- .../PMID_36446582_Ockeloen2015_P3.json | 81 +- .../PMID_36446582_Ockeloen2015_P4.json | 95 +- .../PMID_36446582_Ockeloen2015_P5.json | 66 +- .../PMID_36446582_Ockeloen2015_P6.json | 66 +- .../PMID_36446582_Ockeloen2015_P7.json | 45 +- .../PMID_36446582_Ockeloen2015_P8.json | 90 +- .../PMID_36446582_Ockeloen2015_P9.json | 76 +- .../PMID_36446582_Palumbo2016.json | 150 ++ .../PMID_36446582_Palumbo_2016.json | 199 --- .../PMID_36446582_Parenti2016_P1.json | 167 ++- .../PMID_36446582_Parenti2016_P2.json | 85 +- .../PMID_36446582_Parenti2021_P1.json | 117 +- .../PMID_36446582_Parenti2021_P10.json | 112 +- .../PMID_36446582_Parenti2021_P11.json | 116 +- .../PMID_36446582_Parenti2021_P12.json | 89 +- .../PMID_36446582_Parenti2021_P13.json | 75 +- .../PMID_36446582_Parenti2021_P14.json | 101 +- .../PMID_36446582_Parenti2021_P15.json | 106 +- .../PMID_36446582_Parenti2021_P16.json | 102 +- .../PMID_36446582_Parenti2021_P17.json | 116 +- .../PMID_36446582_Parenti2021_P18.json | 104 +- .../PMID_36446582_Parenti2021_P19.json | 125 +- .../PMID_36446582_Parenti2021_P2.json | 111 +- .../PMID_36446582_Parenti2021_P20.json | 101 +- .../PMID_36446582_Parenti2021_P21.json | 94 +- .../PMID_36446582_Parenti2021_P22.json | 132 +- .../PMID_36446582_Parenti2021_P23.json | 103 +- .../PMID_36446582_Parenti2021_P3.json | 108 +- .../PMID_36446582_Parenti2021_P4.json | 99 +- .../PMID_36446582_Parenti2021_P5.json | 111 +- .../PMID_36446582_Parenti2021_P6.json | 108 +- .../PMID_36446582_Parenti2021_P7.json | 109 +- .../PMID_36446582_Parenti2021_P8.json | 121 +- .../PMID_36446582_Parenti2021_P9.json | 110 +- .../PMID_36446582_Rentas2021_P1.json | 58 +- .../PMID_36446582_Reuter2020.json | 99 -- .../PMID_36446582_Sacharow2012_P1.json | 160 ++ ...son => PMID_36446582_Sacharow2012_P2.json} | 68 +- .../PMID_36446582_Sacharow_2012_P1.json | 219 --- ...1.json => PMID_36446582_Sayed2020_P1.json} | 99 +- ...2.json => PMID_36446582_Sayed2020_P2.json} | 85 +- ...json => PMID_36446582_Scarano2013_P1.json} | 81 +- .../PMID_36446582_Scarano2013_P10.json | 142 ++ .../PMID_36446582_Scarano2013_P11.json | 147 ++ ...son => PMID_36446582_Scarano2013_P12.json} | 96 +- ...json => PMID_36446582_Scarano2013_P2.json} | 57 +- ...json => PMID_36446582_Scarano2013_P3.json} | 71 +- ...json => PMID_36446582_Scarano2013_P4.json} | 76 +- ...json => PMID_36446582_Scarano2013_P5.json} | 76 +- ...json => PMID_36446582_Scarano2013_P6.json} | 76 +- ...json => PMID_36446582_Scarano2013_P7.json} | 71 +- ...json => PMID_36446582_Scarano2013_P8.json} | 74 +- ...json => PMID_36446582_Scarano2013_P9.json} | 76 +- .../PMID_36446582_Scarano_2013_P10.json | 186 --- .../PMID_36446582_Scarano_2013_P11.json | 196 --- ...011_P1F1previouslypublishedTekin2004.json} | 85 +- .../PMID_36446582_Sirmaci2011_P2.json | 76 +- ...011_P2F1previouslypublishedTekin2004.json} | 95 +- .../PMID_36446582_Sirmaci2011_P3.json | 89 +- ...011_P3F1previouslypublishedTekin2004.json} | 85 +- ...11_P4previouslypublishedBrancati2004.json} | 81 +- .../PMID_36446582_Sirmaci2011_P5.json | 76 +- ...3.json => PMID_36446582_Spengler2013.json} | 102 +- .../PMID_36446582_Srivastava2017_P1.json | 148 ++ .../PMID_36446582_Srivastava_2017_P1.json | 186 --- .../PMID_36446582_VanDongen2019_P1.json | 31 +- .../PMID_36446582_VanDongen2019_P10.json | 31 +- .../PMID_36446582_VanDongen2019_P12.json | 99 -- 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KBG Syndrome

\n", - "

Data from Martinez-Cayuelas E, et al. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. J Med Genet. 2022 Nov 29:jmedgenet-2022-108632. PMID: 36446582..

" - ] - }, - { - "cell_type": "code", - "execution_count": 1, - "id": "1cbf7b69", - "metadata": {}, - "outputs": [], - "source": [ - "import os\n", - "import sys\n", - "import re\n", - "from collections import defaultdict\n", - "\n", - "import phenopackets as php\n", - "import pandas as pd\n", - "import numpy as np\n", - "\n", - "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "from google.protobuf.json_format import Parse, ParseDict\n", - "from pyliftover import LiftOver\n", - "from pyphetools.creation import *\n", - "\n", - "#sys.path.append('../')\n", - "pd.set_option('display.max_colwidth', None) # show entire column contents, important!" - ] - }, - { - "cell_type": "code", - "execution_count": 2, - "id": "1c2e2576", - "metadata": {}, - "outputs": [], - "source": [ - "parser = HpoParser()\n", - "hpo_cr = parser.get_hpo_concept_recognizer()\n", - "hpo_version = parser.get_version()\n", - "metadata = MetaData(created_by=\"ORCID:0000-0003-2598-6622\")\n", - "metadata.default_versions_with_hpo(version=hpo_version)" - ] - }, - { - "cell_type": "code", - "execution_count": 22, - "id": "fcc1c878", - "metadata": {}, - "outputs": [], - "source": [ - "data = pd.read_excel('input/Martinez-KBG-SupplTable-340-v2.xlsx', dtype=str)" - ] - }, - { - "cell_type": "code", - "execution_count": 23, - "id": "aa6fc7c3", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "Patient origin (1=our cohort; 2=literature) object\n", - "Patient ID object\n", - "Gender (1=male; 2=female) object\n", - "ID object\n", - "ASD object\n", - "ADHD object\n", - "History of developmental delay (motor and language >18m) object\n", - "ID/ADHD/ASD object\n", - "Macrodontia and/or other dental anomalies object\n", - "Characteristic nose (anteverted, bulbous, and/or prominent) object\n", - "Triangular face object\n", - "Characteristic eyebrows object\n", - "Long philtrum object\n", - "Characteristic ears (large, prominent, and/or low-set) object\n", - "Hand anomalies (brachydactyly or clinodactyly) object\n", - "Postnatal short stature \n", - "\n", - "\n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - "
Patient origin (1=our cohort; 2=literature)Patient IDGender (1=male; 2=female)IDASDADHDHistory of developmental delay (motor and language >18m)ID/ADHD/ASDMacrodontia and/or other dental anomaliesCharacteristic nose (anteverted, bulbous, and/or prominent)...Postnatal short stature <p10N comorbidities (N=7)Hearing Loss and/or otitis mediaOther comorbidities (seizures, cardiopathy, visual, feeding, cryptorchydism)Phenotypic score (columns F:P)Variant type (SNV vs CNV)Exon 9 (Yes/No)c.1903_1907del;p.Lys635GInfs*26 (Yes/No)Deletion size (CNV)Variant
01KBG11YesNaNNaNYesYesNaNNaN...NaN3NaNYes8CNVCNVCNV1700016q24.3(89336307_89354085)x1
11KBG21YesNaNNaNNoYesNaNNaN...NaN1NaNYes4CNVCNVCNV25000016q24.3(89256478_89506223)x1
21KBG32NaNNaNNaNYesNaNNaNNaN...NaN3YesYes5SNVYesNoSNVc.2398_2401del;p.Glu800Asnfs*62
31KBG42YesNaNNaNYesYesNaNNo...No1NoYes6SNVYesNoSNVc.7083del;p.Thr2362Profs*39
41KBG51NaNNaNNaNNaNNaNNaNNaN...NaNNaNNaNNaN0SNVYesYesSNVc.1903_1907del;p.Lys635GInfs*26
\n", - "

5 rows × 25 columns

\n", - "" - ], - "text/plain": [ - " Patient origin (1=our cohort; 2=literature) Patient ID \\\n", - "0 1 KBG1 \n", - "1 1 KBG2 \n", - "2 1 KBG3 \n", - "3 1 KBG4 \n", - "4 1 KBG5 \n", - "\n", - " Gender (1=male; 2=female) ID ASD ADHD \\\n", - "0 1 Yes NaN NaN \n", - "1 1 Yes NaN NaN \n", - "2 2 NaN NaN NaN \n", - "3 2 Yes NaN NaN \n", - "4 1 NaN NaN NaN \n", - "\n", - " History of developmental delay (motor and language >18m) ID/ADHD/ASD \\\n", - "0 Yes Yes \n", - "1 No Yes \n", - "2 Yes NaN \n", - "3 Yes Yes \n", - "4 NaN NaN \n", - "\n", - " Macrodontia and/or other dental anomalies \\\n", - "0 NaN \n", - "1 NaN \n", - "2 NaN \n", - "3 NaN \n", - "4 NaN \n", - "\n", - " Characteristic nose (anteverted, bulbous, and/or prominent) ... \\\n", - "0 NaN ... \n", - "1 NaN ... \n", - "2 NaN ... \n", - "3 No ... \n", - "4 NaN ... \n", - "\n", - " Postnatal short stature 18m)': ['Neurodevelopmental delay', 'HP:0012758'],\n", - " 'ID/ADHD/ASD':['Abnormality of higher mental function', 'HP:0011446'],\n", - " 'Macrodontia and/or other dental anomalies':['Abnormality of dental morphology', 'HP:0006482'],\n", - " 'Characteristic nose (anteverted, bulbous, and/or prominent)': ['Abnormal external nose morphology', 'HP:0010938'],\n", - " 'Triangular face': ['Triangular face', 'HP:0000325'],\n", - " 'Characteristic eyebrows': ['Abnormal eyebrow morphology', 'HP:0000534'],\n", - " 'Long philtrum': ['Long philtrum', 'HP:0000343'],\n", - " 'Characteristic ears (large, prominent, and/or low-set)': ['Abnormality of the outer ear', 'HP:0000356'],\n", - " 'Hand anomalies (brachydactyly or clinodactyly)': ['Abnormality of the hand', 'HP:0001155'],\n", - " 'Postnatal short stature \n", - "\n", - "\n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - "
original column contentssex
01MALE
11MALE
22FEMALE
32FEMALE
41MALE
.........
3351MALE
3361MALE
3371MALE
3381MALE
3391MALE
\n", - "

340 rows × 2 columns

\n", - "" - ], - "text/plain": [ - " original column contents sex\n", - "0 1 MALE\n", - "1 1 MALE\n", - "2 2 FEMALE\n", - "3 2 FEMALE\n", - "4 1 MALE\n", - ".. ... ...\n", - "335 1 MALE\n", - "336 1 MALE\n", - "337 1 MALE\n", - "338 1 MALE\n", - "339 1 MALE\n", - "\n", - "[340 rows x 2 columns]" - ] - }, - "execution_count": 11, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "sexMapper = SexColumnMapper(male_symbol='1', female_symbol='2', unknown_symbol='NA', column_name='Gender (1=male; 2=female)')\n", - "ageMapper = AgeColumnMapper.by_year('Patient origin (1=our cohort; 2=literature)')\n", - "sexMapper.preview_column(data['Gender (1=male; 2=female)'])" - ] - }, - { - "cell_type": "code", - "execution_count": 12, - "id": "9abf177a", - "metadata": {}, - "outputs": [], - "source": [ - "individual_colname = 'Patient ID'\n", - "pmid = 'PMID:36446582'" - ] - }, - { - "cell_type": "code", - "execution_count": 13, - "id": "560b1f68", - "metadata": {}, - "outputs": [], - "source": [ - "encoder = CohortEncoder(df=data, hpo_cr=hpo_cr, column_mapper_d=column_mapper_d, \n", - " individual_column_name=individual_colname,\n", - " sexmapper=sexMapper,\n", - " agemapper=ageMapper,\n", - " variant_mapper=varMapper,\n", - " metadata=metadata,\n", - " pmid=pmid, )" - ] - }, - { - "cell_type": "code", - "execution_count": 14, - "id": "d3cc6844", - "metadata": {}, - "outputs": [], - "source": [ - "encoder.set_disease(disease_id='OMIM:148050', label='KBG syndrome')" - ] - }, - { - "cell_type": "code", - "execution_count": 15, - "id": "bd4db71e", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n" - ] - }, - { - "data": { - "text/html": [ - "
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sexagephenotypic features
id
KBG1MALEP1YIntellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
KBG2MALEP1YIntellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nexcluded: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
KBG3FEMALEP1Ynot measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365)
KBG4FEMALEP1YIntellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nexcluded: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nexcluded: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nexcluded: Hearing impairment (HP:0000365)
KBG5MALEP1Ynot measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
............
Willemsen2010_P1MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nexcluded: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nAbnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
Willemsen2010_P2MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
Willemsen2010_P3MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nexcluded: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365)
Willemsen2010_P4MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
Youngs2011MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nAttention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nAbnormality of dental morphology (HP:0006482)\\nAbnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nHearing impairment (HP:0000365)
\n", - "

340 rows × 3 columns

\n", - "
" - ], - "text/plain": [ - " sex age \\\n", - "id \n", - "KBG1 MALE P1Y \n", - "KBG2 MALE P1Y \n", - "KBG3 FEMALE P1Y \n", - "KBG4 FEMALE P1Y \n", - "KBG5 MALE P1Y \n", - "... ... ... \n", - "Willemsen2010_P1 MALE P2Y \n", - "Willemsen2010_P2 MALE P2Y \n", - "Willemsen2010_P3 MALE P2Y \n", - "Willemsen2010_P4 MALE P2Y \n", - "Youngs2011 MALE P2Y \n", - "\n", - " phenotypic features \n", - "id \n", - "KBG1 Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "KBG2 Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nexcluded: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "KBG3 not measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365) \n", - "KBG4 Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nexcluded: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nexcluded: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nexcluded: Hearing impairment (HP:0000365) \n", - "KBG5 not measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "... ... \n", - "Willemsen2010_P1 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nexcluded: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nAbnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "Willemsen2010_P2 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "Willemsen2010_P3 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nexcluded: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365) \n", - "Willemsen2010_P4 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "Youngs2011 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nAttention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nAbnormality of dental morphology (HP:0006482)\\nAbnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nHearing impairment (HP:0000365) \n", - "\n", - "[340 rows x 3 columns]" - ] - }, - "execution_count": 15, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "encoder.preview_dataframe()" - ] - }, - { - "cell_type": "code", - "execution_count": 16, - "id": "788499bd", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7083del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7407C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6691dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3590_3594del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3590_3594del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3193A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3309dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2765_2766del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.548_551del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.831del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3046del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3905_3906del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4384dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1731dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1940_1941delinsT/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7180C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570_7572del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6682del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.227G>A/NM_013275.6?content-type=application%2Fjson\n", - "Not able to get variant for c.227G>A: Expecting to get a gene_variant from Variant Validator but got warning\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1367_1370del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5790C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2593dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1846G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.520C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6701del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2367del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7834G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7834G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3448C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4171C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3931C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4384dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7534C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3334del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2329_2332del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5790C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6968_6975del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2329_2332del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6628G>T/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7753C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4529dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3704_3707del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.866dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5145C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3224_3227del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4528_4529del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1285_1286del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3019C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3180dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3309dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3770_3771del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4107_4108del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4374_4375del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4389_4390del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1385_1388del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4498C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5146G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5205del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5712_5713insT/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6513dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7000C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7192C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7216C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7416C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1457C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1120G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3198_3199del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3774_3775del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2647G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6766C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1367_1370del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4087C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4786G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.867C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1893dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3153del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3045del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5889del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3310dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395_2398del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395_2398del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395_2398del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6015dup/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3295_3296del/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3771dup/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1385_1388del/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6053_6057del/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7607G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4558del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1389dup/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7552C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2828_2829del/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6340C>T/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3045del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4408A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2182_2183del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2182_2183del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2182_2183del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2512C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5426_5430del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5274dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3437_3461del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4103_4104del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7362del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3208_3209del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4177_4189del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3582del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3704_3707del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4206C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5199_5227del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6364_6367del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1801C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "Not able to get variant for c.1903_1907del: HTTPSConnectionPool(host='rest.variantvalidator.org', port=443): Max retries exceeded with url: /VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson (Caused by SSLError(SSLEOFError(8, 'EOF occurred in violation of protocol (_ssl.c:997)')))\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7471-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3224_3227del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6187G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7471A>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6409_6410del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3224_3227del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7216C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6472G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.505G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1173C>G/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2751dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3382_3383del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6513dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1318C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1318C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4391_4392del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6184del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3123_3126del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1460_1463del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5483G>T/NM_013275.6?content-type=application%2Fjson\n", - "Not able to get variant for c.5483G>T: Expecting to get a gene_variant from Variant Validator but got warning\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2297_2300del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.915delA/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4218C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4087C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7470+2T>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3888dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3591_3594del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1711_1723del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5123C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2692C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7356dupC/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7411_7422del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.211_226+1del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5238_5239del/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5488G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5488G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3221_3222del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5957_5958del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3974del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3222dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2866G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7534C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2650del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3339G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2305del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7189C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5953_5954del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6071_6084del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1763C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3460G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2092_2096del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5162C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7607G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4964_4965del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2372del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1785_1786delGCinsTT/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2130del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4283_4286del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6817_6833del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7535G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", - "Wrote 340 phenopackets to phenopackets\n" - ] - } - ], - "source": [ - "encoder.output_phenopackets(outdir='phenopackets')" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "a29941f9", - "metadata": {}, - "outputs": [], - "source": [] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "4053abdd", - "metadata": {}, - "outputs": [], - "source": [] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "181d0e20", - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "enviro", - "language": "python", - "name": "enviro" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.10.10" - } - }, - "nbformat": 4, - "nbformat_minor": 5 -} diff --git a/notebooks/KBG/input/Martinez-KBG-SupplTable-340-v2.xlsx b/notebooks/KBG/input/Martinez-KBG-SupplTable-340-v2.xlsx deleted file mode 100644 index c071c26ce5248961b00c0d887232e75d0f8c1c48..0000000000000000000000000000000000000000 GIT binary patch literal 0 HcmV?d00001 literal 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"genomic", - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG32.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG32.json index 20d15889f..de9b91b10 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG32.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG32.json @@ -1,5 +1,5 @@ { - "id": "KBG32", + "id": "PMID_36446582_KBG32", "subject": { "id": "KBG32", "timeAtLastEncounter": { @@ -10,153 +10,82 @@ "sex": "MALE" }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true + }, { "type": { "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -174,6 +103,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_VCtSnTmCrQIPMulSABmVJjGyB", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -208,8 +138,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.452276945Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -235,15 +165,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG33.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG33.json index 17becfcf4..a64f16d7b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG33.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG33.json @@ -1,5 +1,5 @@ { - "id": "KBG33", + "id": "PMID_36446582_KBG33", "subject": { "id": "KBG33", "timeAtLastEncounter": { @@ -14,137 +14,71 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000325", + "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -162,6 +96,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_wBwDyiJdNegbFUwiQFfLQPIxg", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -196,8 +131,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.457455158Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -223,15 +158,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG34.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG34.json index 7668e90fb..49559065d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG34.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG34.json @@ -1,5 +1,5 @@ { - "id": "KBG34", + "id": "PMID_36446582_KBG34", "subject": { "id": "KBG34", "timeAtLastEncounter": { @@ -14,113 +14,57 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000356", + "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -138,6 +82,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LhjmRjJJyJmnfptfygkcIBlNS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -172,8 +117,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.462556838Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -199,15 +144,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG35.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG35.json index 018a3a3e4..fa6a4cabf 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG35.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG35.json @@ -1,5 +1,5 @@ { - "id": "KBG35", + "id": "PMID_36446582_KBG35", "subject": { "id": "KBG35", "timeAtLastEncounter": { @@ -10,107 +10,56 @@ "sex": "MALE" }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000343", + "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -128,6 +77,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -162,8 +112,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.467714071Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -189,15 +139,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG36.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG36.json index ffcc166ee..7c3fef908 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG36.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG36.json @@ -1,5 +1,5 @@ { - "id": "KBG36", + "id": "PMID_36446582_KBG36", "subject": { "id": "KBG36", "timeAtLastEncounter": { @@ -14,103 +14,52 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001263", + "label": "Global developmental delay" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -128,6 +77,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -162,8 +112,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.472809076Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -189,15 +139,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG37.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG37.json index 6332276ca..4d3812ccb 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG37.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG37.json @@ -1,5 +1,5 @@ { - "id": "KBG37", + "id": "PMID_36446582_KBG37", "subject": { "id": "KBG37", "timeAtLastEncounter": { @@ -12,117 +12,60 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -140,6 +83,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_VVFRSmuqRIOGKdhdLHpgDdRtm", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -174,8 +118,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.478133916Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -201,15 +145,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG38.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG38.json index 8f0651b76..2bc03d29c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG38.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG38.json @@ -1,5 +1,5 @@ { - "id": "KBG38", + "id": "PMID_36446582_KBG38", "subject": { "id": "KBG38", "timeAtLastEncounter": { @@ -14,125 +14,64 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -150,31 +89,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89283303" - }, - "endNumber": { - "value": "89541333" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89283303_89541333)x1", + "id": "var_jUorJlPgAHfDTaPYFtqAscNWf", + "label": "16q24.3(89349711_89607741)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -191,8 +112,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.482899904Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -218,15 +139,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG39.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG39.json index ea66d0da6..e8fea3750 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG39.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG39.json @@ -1,5 +1,5 @@ { - "id": "KBG39", + "id": "PMID_36446582_KBG39", "subject": { "id": "KBG39", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { @@ -70,12 +39,7 @@ "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_wQLmWQPHbMWVizyXfQUyZnRbe", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.433919906Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG4.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG4.json index d6bf6d041..43c52dcb8 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG4.json @@ -1,5 +1,5 @@ { - "id": "KBG4", + "id": "PMID_36446582_KBG4", "subject": { "id": "KBG4", "timeAtLastEncounter": { @@ -14,115 +14,59 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, + { + "type": { + "id": "HP:0010938", + "label": "Abnormal external nose morphology" + }, + "excluded": true + }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -140,6 +84,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LmaIZetYPfzgQtowMGjjpMmVo", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -174,8 +119,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.340381860Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -201,15 +146,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG40.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG40.json index 6f0a801c0..69b440d05 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG40.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG40.json @@ -1,5 +1,5 @@ { - "id": "KBG40", + "id": "PMID_36446582_KBG40", "subject": { "id": "KBG40", "timeAtLastEncounter": { @@ -14,33 +14,12 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } } ], @@ -59,6 +38,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_FWQugvRMEcSIWtsTrDhHuPgTd", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -93,8 +73,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.438740968Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -120,15 +100,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG41.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG41.json index 90c4a5fae..a8ffcf116 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG41.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG41.json @@ -1,5 +1,5 @@ { - "id": "KBG41", + "id": "PMID_36446582_KBG41", "subject": { "id": "KBG41", "timeAtLastEncounter": { @@ -14,11 +14,6 @@ "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } } ], @@ -37,6 +32,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EioaIfduJfrzuNWQrpMTAzbKT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -71,8 +67,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.446137189Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -98,15 +94,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG42.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG42.json deleted file mode 100644 index 192a21449..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG42.json +++ /dev/null @@ -1,175 +0,0 @@ -{ - "id": "KBG42", - "subject": { - "id": "KBG42", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P1Y" - } - }, - "sex": "FEMALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG43.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG43.json index 0acd07473..da985de3d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG43.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG43.json @@ -1,5 +1,5 @@ { - "id": "KBG43", + "id": "PMID_36446582_KBG43", "subject": { "id": "KBG43", "timeAtLastEncounter": { @@ -14,68 +14,32 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0001263", + "label": "Global developmental delay" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_ekSlRDHLaJzlFsNcCwdBYIaAc", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.539461135Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG44.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG44.json index d3b47f7c4..19c02f123 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG44.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG44.json @@ -1,5 +1,5 @@ { - "id": "KBG44", + "id": "PMID_36446582_KBG44", "subject": { "id": "KBG44", "timeAtLastEncounter": { @@ -14,146 +14,75 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0010938", + "label": "Abnormal external nose morphology" + }, + "excluded": true } ], "interpretations": [ @@ -171,6 +100,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -205,8 +135,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.677654027Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -232,15 +162,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG45.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG45.json index c31bd5248..d9caf2539 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG45.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG45.json @@ -1,5 +1,5 @@ { - "id": "KBG45", + "id": "PMID_36446582_KBG45", "subject": { "id": "KBG45", "timeAtLastEncounter": { @@ -14,44 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { @@ -59,94 +45,42 @@ "id": "HP:0010938", "label": "Abnormal external nose morphology" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -164,6 +98,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -198,8 +133,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.693933963Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -225,15 +160,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG46.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG46.json index a139fe947..2838622f1 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG46.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG46.json @@ -1,5 +1,5 @@ { - "id": "KBG46", + "id": "PMID_36446582_KBG46", "subject": { "id": "KBG46", "timeAtLastEncounter": { @@ -14,162 +14,86 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0010938", + "label": "Abnormal external nose morphology" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -187,6 +111,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EYbkUBOirDscCuDZTznVBgVUP", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -221,8 +146,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.709872245Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -248,15 +173,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG47.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG47.json index f57f43cf7..0e1b7ee39 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG47.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG47.json @@ -1,5 +1,5 @@ { - "id": "KBG47", + "id": "PMID_36446582_KBG47", "subject": { "id": "KBG47", "timeAtLastEncounter": { @@ -14,102 +14,51 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -127,6 +76,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_nVhPsJXbiHTlnzoFKJzRhoKtt", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -161,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.632460117Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -188,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG48.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG48.json index f0622385c..6c538cf37 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG48.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG48.json @@ -1,5 +1,5 @@ { - "id": "KBG48", + "id": "PMID_36446582_KBG48", "subject": { "id": "KBG48", "timeAtLastEncounter": { @@ -12,127 +12,66 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001263", + "label": "Global developmental delay" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -150,6 +89,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -184,8 +124,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.532418012Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -211,15 +151,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG49.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG49.json index 1b66dc9b7..de646e2a5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG49.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG49.json @@ -1,5 +1,5 @@ { - "id": "KBG49", + "id": "PMID_36446582_KBG49", "subject": { "id": "KBG49", "timeAtLastEncounter": { @@ -14,145 +14,74 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + }, + "excluded": true } ], "interpretations": [ @@ -170,6 +99,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_ioLxUgFqisjQOOdEvCvpbtVqK", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -204,8 +134,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.510622978Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -231,15 +161,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG5.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG5.json index 04ecbc577..0d022ac3f 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG5.json @@ -1,5 +1,5 @@ { - "id": "KBG5", + "id": "PMID_36446582_KBG5", "subject": { "id": "KBG5", "timeAtLastEncounter": { @@ -15,12 +15,7 @@ "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -38,6 +33,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -72,8 +68,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.372948884Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -99,15 +95,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG50.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG50.json index 399947c2b..b37c52c5d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG50.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG50.json @@ -1,5 +1,5 @@ { - "id": "KBG50", + "id": "PMID_36446582_KBG50", "subject": { "id": "KBG50", "timeAtLastEncounter": { @@ -10,162 +10,86 @@ "sex": "MALE" }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true + }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -183,6 +107,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_PmigaovRiFNdBWLYDNHbxQhWP", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -217,8 +142,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.517930984Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -244,15 +169,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG51.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG51.json index 72d8b3bb5..8a10ef872 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG51.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG51.json @@ -1,5 +1,5 @@ { - "id": "KBG51", + "id": "PMID_36446582_KBG51", "subject": { "id": "KBG51", "timeAtLastEncounter": { @@ -14,148 +14,77 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + }, + "excluded": true } ], "interpretations": [ @@ -173,6 +102,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_VVkYDrewyjJXudJznEwCeACym", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -207,8 +137,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.546921014Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -234,15 +164,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG52.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG52.json index 6a44f488a..3e3e10f09 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG52.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG52.json @@ -1,5 +1,5 @@ { - "id": "KBG52", + "id": "PMID_36446582_KBG52", "subject": { "id": "KBG52", "timeAtLastEncounter": { @@ -14,149 +14,78 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -174,6 +103,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_xWYFacVHwvLSyFbpAZiwtlWBl", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -208,8 +138,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.554639101Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -235,15 +165,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG53.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG53.json index cbe67c1a7..f24836060 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG53.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG53.json @@ -1,5 +1,5 @@ { - "id": "KBG53", + "id": "PMID_36446582_KBG53", "subject": { "id": "KBG53", "timeAtLastEncounter": { @@ -14,151 +14,80 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000325", + "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -176,6 +105,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_VliMNyhhXwqkSZdOCuedahpeU", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -210,8 +140,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.569393873Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -237,15 +167,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG54.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG54.json index 9866ba572..1125d639c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG54.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG54.json @@ -1,5 +1,5 @@ { - "id": "KBG54", + "id": "PMID_36446582_KBG54", "subject": { "id": "KBG54", "timeAtLastEncounter": { @@ -14,115 +14,59 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -140,6 +84,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_MkfrkCDcRdLamIrmhiCruJjFs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -174,8 +119,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.575836896Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -201,15 +146,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG55.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG55.json index ac7d926c4..b7846691c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG55.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG55.json @@ -1,5 +1,5 @@ { - "id": "KBG55", + "id": "PMID_36446582_KBG55", "subject": { "id": "KBG55", "timeAtLastEncounter": { @@ -14,137 +14,71 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0010938", + "label": "Abnormal external nose morphology" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -162,6 +96,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LzwtOeLBOQmYjZllDRbmkqrPC", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -196,8 +131,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.581711769Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -223,15 +158,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG56.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG56.json index a8e666a79..9ba640950 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG56.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG56.json @@ -1,5 +1,5 @@ { - "id": "KBG56", + "id": "PMID_36446582_KBG56", "subject": { "id": "KBG56", "timeAtLastEncounter": { @@ -14,158 +14,82 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0010938", + "label": "Abnormal external nose morphology" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -183,6 +107,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_dCebfKhYvutojtNzFEVZQYUcK", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -217,8 +142,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.592715978Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -244,15 +169,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG57.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG57.json index 8f74dca55..c40f0d213 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG57.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG57.json @@ -1,5 +1,5 @@ { - "id": "KBG57", + "id": "PMID_36446582_KBG57", "subject": { "id": "KBG57", "timeAtLastEncounter": { @@ -14,164 +14,88 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + }, + "excluded": true }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -189,6 +113,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_CLvWvkGjpVtXKgoLAuvVjRtcT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -223,8 +148,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.608327865Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -250,15 +175,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG58.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG58.json index 8c9d7cc6e..40d5bb4b4 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG58.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG58.json @@ -1,5 +1,5 @@ { - "id": "KBG58", + "id": "PMID_36446582_KBG58", "subject": { "id": "KBG58", "timeAtLastEncounter": { @@ -14,149 +14,78 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001263", + "label": "Global developmental delay" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -174,31 +103,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89217281" - }, - "endNumber": { - "value": "89512722" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89217281-89512722)x1", + "id": "var_usrpGWLqGQIEkJgTyGPCaRuhv", + "label": "16q24.3(89283689-89579130)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -215,8 +126,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.614906072Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -242,15 +153,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG59.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG59.json index b933115a9..ef0d62e60 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG59.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG59.json @@ -1,5 +1,5 @@ { - "id": "KBG59", + "id": "PMID_36446582_KBG59", "subject": { "id": "KBG59", "timeAtLastEncounter": { @@ -14,148 +14,77 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -173,6 +102,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_CKQwxzhMSAeQqnratPspPeRZS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -207,8 +137,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.499127149Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -234,15 +164,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG6.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG6.json index bb4929f74..d854b0d15 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG6.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG6.json @@ -1,5 +1,5 @@ { - "id": "KBG6", + "id": "PMID_36446582_KBG6", "subject": { "id": "KBG6", "timeAtLastEncounter": { @@ -14,156 +14,80 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true } ], "interpretations": [ @@ -181,6 +105,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_wfBMNKTwmVwBWYNHfiouTgPOC", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -215,8 +140,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.392343997Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -242,15 +167,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG62.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG62.json index 27c859a37..b6ef1e232 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG62.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG62.json @@ -1,5 +1,5 @@ { - "id": "KBG62", + "id": "PMID_36446582_KBG62", "subject": { "id": "KBG62", "timeAtLastEncounter": { @@ -14,163 +14,87 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0010938", + "label": "Abnormal external nose morphology" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -188,6 +112,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_laxdqdAAGvmINSDpYalpMeZlM", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -222,8 +147,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.701441049Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -249,15 +174,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG63.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG63.json index 98a4bcc15..4f1186c4e 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG63.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG63.json @@ -1,5 +1,5 @@ { - "id": "KBG63", + "id": "PMID_36446582_KBG63", "subject": { "id": "KBG63", "timeAtLastEncounter": { @@ -14,158 +14,82 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + }, + "excluded": true } ], "interpretations": [ @@ -183,6 +107,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_bZRsOnVmNyTuXVMMjjqxgKHMs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -217,8 +142,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.525234937Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -244,15 +169,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG64.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG64.json index 73d16d599..aeca934c2 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG64.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG64.json @@ -1,5 +1,5 @@ { - "id": "KBG64", + "id": "PMID_36446582_KBG64", "subject": { "id": "KBG64", "timeAtLastEncounter": { @@ -14,44 +14,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } } ], @@ -70,6 +44,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_JiDsfAIqHTrYnnKhkWyHTLwMW", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -104,8 +79,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.383330106Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -131,15 +106,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG65.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG65.json index 0dbdc40d1..b39104890 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG65.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG65.json @@ -1,5 +1,5 @@ { - "id": "KBG65", + "id": "PMID_36446582_KBG65", "subject": { "id": "KBG65", "timeAtLastEncounter": { @@ -12,140 +12,74 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" } }, { "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -163,6 +97,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_DzLxGkHVjSDNHnRTLZEYIGVYx", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -197,8 +132,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.487523078Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -224,15 +159,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG66.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG66.json index fb697af2d..02d056f90 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG66.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG66.json @@ -1,5 +1,5 @@ { - "id": "KBG66", + "id": "PMID_36446582_KBG66", "subject": { "id": "KBG66", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { @@ -103,36 +57,21 @@ "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -150,6 +89,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_laxdqdAAGvmINSDpYalpMeZlM", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -184,8 +124,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.493133068Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -211,15 +151,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG7.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG7.json index 1b97cf66e..f687767aa 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG7.json @@ -1,5 +1,5 @@ { - "id": "KBG7", + "id": "PMID_36446582_KBG7", "subject": { "id": "KBG7", "timeAtLastEncounter": { @@ -14,158 +14,82 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + }, + "excluded": true } ], "interpretations": [ @@ -183,6 +107,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_UrTWXBRqqPnNHdZPtkdaUJWXP", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -217,8 +142,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.504033088Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -244,15 +169,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG8A.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG8A.json index 2d01d431a..b64576546 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG8A.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG8A.json @@ -1,5 +1,5 @@ { - "id": "KBG8A", + "id": "PMID_36446582_KBG8A", "subject": { "id": "KBG8A", "timeAtLastEncounter": { @@ -12,117 +12,67 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + }, + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -140,6 +90,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_BwDEWHqyZrvLHihXKcPIbNnXm", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -174,8 +125,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.416814088Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -201,15 +152,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG8B.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG8B.json index 6619bae1e..1bfccc49b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG8B.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG8B.json @@ -1,5 +1,5 @@ { - "id": "KBG8B", + "id": "PMID_36446582_KBG8B", "subject": { "id": "KBG8B", "timeAtLastEncounter": { @@ -12,93 +12,53 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -116,6 +76,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_BwDEWHqyZrvLHihXKcPIbNnXm", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -150,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.424089193Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -177,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_KBG9.json b/notebooks/KBG/phenopackets/PMID_36446582_KBG9.json index adff50d3a..cdffa131b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_KBG9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_KBG9.json @@ -1,5 +1,5 @@ { - "id": "KBG9", + "id": "PMID_36446582_KBG9", "subject": { "id": "KBG9", "timeAtLastEncounter": { @@ -15,144 +15,77 @@ "id": "HP:0001249", "label": "Intellectual disability" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" + "id": "HP:0001263", + "label": "Global developmental delay" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000343", "label": "Long philtrum" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P1Y" - } - } + "excluded": true } ], "interpretations": [ @@ -170,31 +103,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88788349" - }, - "endNumber": { - "value": "89454555" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(88788349_89454555)x1", + "id": "var_uGUdSceRBaDzuSNiqAuWqBbkj", + "label": "16q24.3(88854757_89520963)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -211,8 +126,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:35.429148912Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -238,15 +153,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Khalifa_2013_P1A.json b/notebooks/KBG/phenopackets/PMID_36446582_Khalifa2013_P1A.json similarity index 59% rename from notebooks/KBG/phenopackets/PMID_36446582_Khalifa_2013_P1A.json rename to notebooks/KBG/phenopackets/PMID_36446582_Khalifa2013_P1A.json index dbf1f8645..18ee3c514 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Khalifa_2013_P1A.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Khalifa2013_P1A.json @@ -1,5 +1,5 @@ { - "id": "Khalifa, 2013_P1A", + "id": "PMID_36446582_Khalifa,_2013_P1A", "subject": { "id": "Khalifa, 2013_P1A", "timeAtLastEncounter": { @@ -12,115 +12,65 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -138,31 +88,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89321705" - }, - "endNumber": { - "value": "89475518" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89321705_89475518)x1", + "id": "var_qGBNoYFnfcpCJhAWPuTqemXJA", + "label": "16q24.3(89388113_89541926)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -179,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.633765220Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -206,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Khalifa_2013_P1B.json b/notebooks/KBG/phenopackets/PMID_36446582_Khalifa2013_P1B.json similarity index 62% rename from notebooks/KBG/phenopackets/PMID_36446582_Khalifa_2013_P1B.json rename to notebooks/KBG/phenopackets/PMID_36446582_Khalifa2013_P1B.json index 5a89141f7..ecbedcc7c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Khalifa_2013_P1B.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Khalifa2013_P1B.json @@ -1,5 +1,5 @@ { - "id": "Khalifa, 2013_P1B", + "id": "PMID_36446582_Khalifa,_2013_P1B", "subject": { "id": "Khalifa, 2013_P1B", "timeAtLastEncounter": { @@ -12,85 +12,50 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -108,31 +73,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89321705" - }, - "endNumber": { - "value": "89475518" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89321705_89475518)x1", + "id": "var_qGBNoYFnfcpCJhAWPuTqemXJA", + "label": "16q24.3(89388113_89541926)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -149,8 +96,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.641245841Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -176,15 +123,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P1.json similarity index 72% rename from notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P1.json rename to notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P1.json index 94e099668..fc0a0ee2d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P1.json @@ -1,5 +1,5 @@ { - "id": "Kim, 2015_P1", + "id": "PMID_36446582_Kim,_2015_P1", "subject": { "id": "Kim, 2015_P1", "timeAtLastEncounter": { @@ -14,112 +14,56 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -137,6 +81,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_WLQgUadCphpZbfgEZFneQaFJx", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -171,8 +116,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.653258085Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -198,15 +143,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P2.json similarity index 70% rename from notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P2.json rename to notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P2.json index db10268cd..669572a25 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P2.json @@ -1,5 +1,5 @@ { - "id": "Kim, 2015_P2", + "id": "PMID_36446582_Kim,_2015_P2", "subject": { "id": "Kim, 2015_P2", "timeAtLastEncounter": { @@ -14,123 +14,62 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -148,6 +87,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_WLQgUadCphpZbfgEZFneQaFJx", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -182,8 +122,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.660639047Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -209,15 +149,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P3.json similarity index 73% rename from notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P3.json rename to notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P3.json index 214a73d28..de553c2c6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kim_2015_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kim2015_P3.json @@ -1,5 +1,5 @@ { - "id": "Kim, 2015_P3", + "id": "PMID_36446582_Kim,_2015_P3", "subject": { "id": "Kim, 2015_P3", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_WLQgUadCphpZbfgEZFneQaFJx", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.671454906Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kleyner_2016.json b/notebooks/KBG/phenopackets/PMID_36446582_Kleyner2016.json similarity index 70% rename from notebooks/KBG/phenopackets/PMID_36446582_Kleyner_2016.json rename to notebooks/KBG/phenopackets/PMID_36446582_Kleyner2016.json index 4de6a51e4..92ec0126f 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kleyner_2016.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kleyner2016.json @@ -1,5 +1,5 @@ { - "id": "Kleyner, 2016", + "id": "PMID_36446582_Kleyner,_2016", "subject": { "id": "Kleyner, 2016", "timeAtLastEncounter": { @@ -14,112 +14,56 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -137,6 +81,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_eATSpFGGDvOOSZpXgHRahHJyW", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -171,8 +116,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.679077863Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -198,15 +143,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P1.json index 58631b627..60c7842f6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P1.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P1", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P1", "subject": { "id": "Kutkowska-Kazmierczak2021_P1", "timeAtLastEncounter": { @@ -9,39 +9,24 @@ } }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true } ], "interpretations": [ @@ -59,6 +44,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -93,8 +79,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.689326047Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -120,15 +106,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P10.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P10.json index 436ec8189..545613522 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P10.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P10.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P10", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P10", "subject": { "id": "Kutkowska-Kazmierczak2021_P10", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -81,12 +45,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_nNIdKWigwVoaHPiHPQJOirZeX", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -138,8 +98,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.696186065Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -165,15 +125,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P11.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P11.json index ef9fc7ade..5401ae35b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P11.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P11.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P11", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P11", "subject": { "id": "Kutkowska-Kazmierczak2021_P11", "timeAtLastEncounter": { @@ -13,44 +13,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -69,6 +43,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_lyKKZOAtYXjfsexAMHBrNSzOb", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -103,8 +78,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.703124046Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -130,15 +105,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P12.json index 230ba222b..cc753a8da 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P12.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P12.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P12", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P12", "subject": { "id": "Kutkowska-Kazmierczak2021_P12", "timeAtLastEncounter": { @@ -13,44 +13,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -58,12 +32,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_JlnDiPpDxemiPrURywqJIuSfd", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.726621866Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P13.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P13.json index 499e05725..b424abf6d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P13.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P13.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P13", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P13", "subject": { "id": "Kutkowska-Kazmierczak2021_P13", "timeAtLastEncounter": { @@ -11,46 +11,26 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -58,12 +38,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -81,6 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_MESiVmKKGJkQETMqiwLyBxfwz", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.738373041Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P14.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P14.json index ecbeace6f..7fddbab21 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P14.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P14.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P14", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P14", "subject": { "id": "Kutkowska-Kazmierczak2021_P14", "timeAtLastEncounter": { @@ -11,24 +11,14 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -36,12 +26,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -59,31 +44,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "87921245" - }, - "endNumber": { - "value": "89417758" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-24.3(87921245-89417758)x1", + "id": "var_FpxeoHMhWdqGwJKGAZreNgqYV", + "label": "16q24.2-24.3(87954851-89484166)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -100,8 +67,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.748608112Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -127,15 +94,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P15.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P15.json index 2d44fc822..cdc0400c9 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P15.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P15.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P15", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P15", "subject": { "id": "Kutkowska-Kazmierczak2021_P15", "timeAtLastEncounter": { @@ -11,27 +11,17 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -49,31 +39,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89171712" - }, - "endNumber": { - "value": "89274753" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89171712-89274753)x1", + "id": "var_LaBQCENbytVKafldSLXwIlXBP", + "label": "16q24.3(89238120-89341161)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -90,8 +62,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.752521991Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -117,15 +89,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P16.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P16.json index 6e08a9055..e4bb52180 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P16.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P16.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P16", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P16", "subject": { "id": "Kutkowska-Kazmierczak2021_P16", "timeAtLastEncounter": { @@ -11,38 +11,23 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -60,31 +45,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89277485" - }, - "endNumber": { - "value": "89517986" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89277485-89517986)x1", + "id": "var_igJjinhiYcepYUKSaMkQIkzIb", + "label": "16q24.3(89343893-89584394)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -101,8 +68,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.757539987Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -128,15 +95,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P17.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P17.json index 5f2bce7af..9b81cba75 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P17.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P17.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P17", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P17", "subject": { "id": "Kutkowska-Kazmierczak2021_P17", "timeAtLastEncounter": { @@ -9,74 +9,38 @@ } }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -94,34 +58,16 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89195406" - }, - "endNumber": { - "value": "89489612" - } - } - } - }, - "number": { - "value": "3" - } - } - }, - "description": "16q24.3(89195406-89489612)x3", + "id": "var_sgSTmPGBgTtgAEctYuVUXfsKh", + "label": "16q24.3(89261814-89556020)x3 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { - "id": "SO:1000029", - "label": "chromosomal_deletion" + "id": "SO:1000037", + "label": "chromosomal_duplication" }, "allelicState": { "id": "GENO:0000135", @@ -135,8 +81,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.770246982Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -162,15 +108,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P18.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P18.json index 4bb5c14f2..3e241cc0e 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P18.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P18.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P18", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P18", "subject": { "id": "Kutkowska-Kazmierczak2021_P18", "timeAtLastEncounter": { @@ -14,36 +14,21 @@ "id": "HP:0001249", "label": "Intellectual disability" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -61,31 +46,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89266045" - }, - "endNumber": { - "value": "89305443" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89266045-89305443)x1", + "id": "var_rQpwxksUQskrOxBjJharnRWJv", + "label": "16q24.3(89332453-89371851)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -102,8 +69,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.779308080Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -129,15 +96,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P19.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P19.json index fd458a699..01e5615b9 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P19.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P19.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P19", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P19", "subject": { "id": "Kutkowska-Kazmierczak2021_P19", "timeAtLastEncounter": { @@ -13,58 +13,27 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,31 +51,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89277485" - }, - "endNumber": { - "value": "89431539" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89277485-89431539)x1", + "id": "var_wtnHpSItKEKcEwDqyjvDydnst", + "label": "16q24.3(89343893-89497947)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -123,8 +74,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.786789178Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -150,15 +101,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P2.json index bb4dd6142..394b291be 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P2.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P2", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P2", "subject": { "id": "Kutkowska-Kazmierczak2021_P2", "timeAtLastEncounter": { @@ -11,49 +11,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.798066854Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P20.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P20.json index fb0868a55..812be867a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P20.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P20.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P20", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P20", "subject": { "id": "Kutkowska-Kazmierczak2021_P20", "timeAtLastEncounter": { @@ -11,26 +11,16 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -48,31 +38,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89458995" - }, - "endNumber": { - "value": "89487166" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89458995-89487166)x1", + "id": "var_VEQjlzOTDomiIzicVgXjtCrhp", + "label": "16q24.3(89525403-89553574)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -89,8 +61,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.809198141Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -116,15 +88,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P21.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P21.json index 134319d38..df66b0bca 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P21.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P21.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P21", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P21", "subject": { "id": "Kutkowska-Kazmierczak2021_P21", "timeAtLastEncounter": { @@ -11,35 +11,20 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -58,31 +43,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89481147" - }, - "endNumber": { - "value": "89489612" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89481147-89489612)x1", + "id": "var_rzocWzVbCQqnZAhrwhjtQwFIy", + "label": "16q24.3(89547555-89556020)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -99,8 +66,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.820513010Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -126,15 +93,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P22.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P22.json index 53e054a2a..3f0d173c1 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P22.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P22.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P22", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P22", "subject": { "id": "Kutkowska-Kazmierczak2021_P22", "timeAtLastEncounter": { @@ -13,58 +13,27 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,31 +51,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89409759" - }, - "endNumber": { - "value": "89418313" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89409759-89418313)x1", + "id": "var_JdVzkClCTxqOwxUeTZgsdGIDR", + "label": "16q24.3(89476167-89484721)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -123,8 +74,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.827512025Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -150,15 +101,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P23.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P23.json index fe86a038e..f4034de92 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P23.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P23.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P23", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P23", "subject": { "id": "Kutkowska-Kazmierczak2021_P23", "timeAtLastEncounter": { @@ -13,66 +13,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -91,31 +55,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89277485" - }, - "endNumber": { - "value": "89489140" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89277485-89489140)x1", + "id": "var_tdeMHznGevnrntiNGkJtCjAmC", + "label": "16q24.3(89343893-89555548)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -132,8 +78,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.834349155Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -159,15 +105,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P3.json index 36ff1725b..260323329 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P3.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P3", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P3", "subject": { "id": "Kutkowska-Kazmierczak2021_P3", "timeAtLastEncounter": { @@ -11,38 +11,23 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -60,6 +45,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_QvmNYxosnnPeFUtsWjzYgxiZA", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -94,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.842842102Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -121,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P4.json index c1d67ffa8..8ab5cbc12 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P4.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P4", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P4", "subject": { "id": "Kutkowska-Kazmierczak2021_P4", "timeAtLastEncounter": { @@ -12,59 +12,34 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true } ], "interpretations": [ @@ -82,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_wrGzrTsttxChuFFCOxoGyDKLI", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.852018833Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P5.json index abfcfb93b..aa24cb932 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P5.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P5", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P5", "subject": { "id": "Kutkowska-Kazmierczak2021_P5", "timeAtLastEncounter": { @@ -12,61 +12,36 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000325", + "label": "Triangular face" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -84,6 +59,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_qVYjKcxfzvGyNcedibiICZUzR", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -118,8 +94,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.859175920Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -145,15 +121,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P6.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P6.json index 2056234c7..eb2a677c5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P6.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P6.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P6", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P6", "subject": { "id": "Kutkowska-Kazmierczak2021_P6", "timeAtLastEncounter": { @@ -14,68 +14,32 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + }, + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_MewcColkXBfsgBTggLjYmGRzt", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.866209030Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P7.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P7.json index 33070a506..803509af7 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P7.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P7", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P7", "subject": { "id": "Kutkowska-Kazmierczak2021_P7", "timeAtLastEncounter": { @@ -11,35 +11,20 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -58,6 +43,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_nWbHllhesrutNAldaVqiewIvn", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -92,8 +78,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.879183769Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -119,15 +105,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P8.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P8.json index deeee5bcc..5968891eb 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P8.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P8.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P8", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P8", "subject": { "id": "Kutkowska-Kazmierczak2021_P8", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -70,12 +39,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_UdFgENPpEZovIrKFDZjHBOQzt", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.886452913Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P9.json index b76e631ae..e3b9c4f95 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Kutkowska-Kazmierczak2021_P9.json @@ -1,5 +1,5 @@ { - "id": "Kutkowska-Kazmierczak2021_P9", + "id": "PMID_36446582_Kutkowska-Kazmierczak2021_P9", "subject": { "id": "Kutkowska-Kazmierczak2021_P9", "timeAtLastEncounter": { @@ -13,44 +13,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -58,12 +32,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LgjlIjozInuzgJnDWsJBRTUAh", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.894191026Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Libianto2019.json b/notebooks/KBG/phenopackets/PMID_36446582_Libianto2019.json index 5444b67f9..0646a55e9 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Libianto2019.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Libianto2019.json @@ -1,5 +1,5 @@ { - "id": "Libianto2019", + "id": "PMID_36446582_Libianto2019", "subject": { "id": "Libianto2019", "timeAtLastEncounter": { @@ -14,91 +14,45 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -116,6 +70,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_KcEFmtaoEkUeERFebIvYoPiLt", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -150,8 +105,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.905045986Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -177,15 +132,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Lim2014.json b/notebooks/KBG/phenopackets/PMID_36446582_Lim2014.json index f88297362..a6f60ca49 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Lim2014.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Lim2014.json @@ -1,5 +1,5 @@ { - "id": "Lim2014", + "id": "PMID_36446582_Lim2014", "subject": { "id": "Lim2014", "timeAtLastEncounter": { @@ -14,112 +14,56 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -137,31 +81,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89283558" - }, - "endNumber": { - "value": "89527445" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89283558-89527445)x1", + "id": "var_bGdGMYurPoBvqKRiyXayHlzPE", + "label": "16q24.3(89349966-89593853)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -178,8 +104,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.913460969Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -205,15 +131,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_30_(28).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3028.json similarity index 79% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_30_(28).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_3028.json index 814126bec..9deb9dadc 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_30_(28).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3028.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_30 (28)", + "id": "PMID_36446582_Low,_2016_30_(28)", "subject": { "id": "Low, 2016_30 (28)", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -92,6 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sZzpooyAFCeoahDjoKRIKOyHa", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -126,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.923834800Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -153,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_31_(29).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3129.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_31_(29).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_3129.json index 518347b82..ad7143cc3 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_31_(29).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3129.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_31 (29)", + "id": "PMID_36446582_Low,_2016_31_(29)", "subject": { "id": "Low, 2016_31 (29)", "timeAtLastEncounter": { @@ -14,44 +14,18 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -59,12 +33,7 @@ "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_GBvqBgYHiFjBkOJPuIvceaaKQ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.931154012Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_32_(30).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3230.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_32_(30).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_3230.json index 7f2c5865e..dd5abfb18 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_32_(30).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3230.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_32 (30)", + "id": "PMID_36446582_Low,_2016_32_(30)", "subject": { "id": "Low, 2016_32 (30)", "timeAtLastEncounter": { @@ -12,38 +12,23 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -61,6 +46,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_GBvqBgYHiFjBkOJPuIvceaaKQ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -95,8 +81,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.938040971Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -122,15 +108,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_33_(31).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3331.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_33_(31).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_3331.json index 9c97b8870..29514cd85 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_33_(31).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3331.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_33 (31)", + "id": "PMID_36446582_Low,_2016_33_(31)", "subject": { "id": "Low, 2016_33 (31)", "timeAtLastEncounter": { @@ -12,49 +12,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -72,6 +52,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_GBvqBgYHiFjBkOJPuIvceaaKQ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -106,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.953786849Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -133,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_34_(32).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3432.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_34_(32).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_3432.json index b6f52eb22..802c5732d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_34_(32).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_3432.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_34 (32)", + "id": "PMID_36446582_Low,_2016_34_(32)", "subject": { "id": "Low, 2016_34 (32)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_CMakBchehRYaBTpLcaNswQIjc", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.962031126Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P10_(18).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1018.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P10_(18).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1018.json index fa9747be5..10550e008 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P10_(18).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1018.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P10 (18)", + "id": "PMID_36446582_Low,_2016_P10_(18)", "subject": { "id": "Low, 2016_P10 (18)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.976378917Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P11_(20).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1120.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P11_(20).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1120.json index fcb298294..d2f97a3d6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P11_(20).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1120.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P11 (20)", + "id": "PMID_36446582_Low,_2016_P11_(20)", "subject": { "id": "Low, 2016_P11 (20)", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.984401941Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P1_(19).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P119.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P1_(19).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P119.json index e514373fe..27a2cb6de 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P1_(19).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P119.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P1 (19)", + "id": "PMID_36446582_Low,_2016_P1_(19)", "subject": { "id": "Low, 2016_P1 (19)", "timeAtLastEncounter": { @@ -12,49 +12,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -72,6 +52,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -106,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.969182968Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -133,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P12_(13).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1213.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P12_(13).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1213.json index bbc2df5cc..8ee9e8541 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P12_(13).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1213.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P12 (13)", + "id": "PMID_36446582_Low,_2016_P12_(13)", "subject": { "id": "Low, 2016_P12 (13)", "timeAtLastEncounter": { @@ -12,37 +12,22 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -60,6 +45,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -94,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:36.999124050Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -121,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P13_(27).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1327.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P13_(27).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1327.json index cd0349b16..2bce951e9 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P13_(27).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1327.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P13 (27)", + "id": "PMID_36446582_Low,_2016_P13_(27)", "subject": { "id": "Low, 2016_P13 (27)", "timeAtLastEncounter": { @@ -12,59 +12,34 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -82,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.006474018Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P14_(2).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P142.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P14_(2).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P142.json index 406d9356e..4fd6f637d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P14_(2).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P142.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P14 (2)", + "id": "PMID_36446582_Low,_2016_P14_(2)", "subject": { "id": "Low, 2016_P14 (2)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_mpcOPrcBerHpzPWeOvlXUFtzx", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.013607025Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P15_(3).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P153.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P15_(3).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P153.json index 22edd4b77..c9b5a0fe8 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P15_(3).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P153.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P15 (3)", + "id": "PMID_36446582_Low,_2016_P15_(3)", "subject": { "id": "Low, 2016_P15 (3)", "timeAtLastEncounter": { @@ -12,49 +12,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -72,6 +52,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_OOWmPNuozzcuYgwhPVrFcxhfS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -106,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.020764827Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -133,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P16_(9).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P169.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P16_(9).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P169.json index 43e195ccb..71577e412 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P16_(9).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P169.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P16 (9)", + "id": "PMID_36446582_Low,_2016_P16_(9)", "subject": { "id": "Low, 2016_P16 (9)", "timeAtLastEncounter": { @@ -14,33 +14,12 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -48,12 +27,7 @@ "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -71,6 +45,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_SxIpCEJwldwwSbbwumyPRPbUo", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.028553009Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P17_(10).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1710.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P17_(10).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1710.json index 2a670767a..75c1923b0 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P17_(10).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1710.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P17 (10)", + "id": "PMID_36446582_Low,_2016_P17_(10)", "subject": { "id": "Low, 2016_P17 (10)", "timeAtLastEncounter": { @@ -12,60 +12,35 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -83,6 +58,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_AMUeqTRHMWjtCYLSrzSJOEOZb", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -117,8 +93,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.037396907Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -144,15 +120,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P18_(12).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1812.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P18_(12).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1812.json index 1c6f601ec..d45050149 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P18_(12).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P1812.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P18 (12)", + "id": "PMID_36446582_Low,_2016_P18_(12)", "subject": { "id": "Low, 2016_P18 (12)", "timeAtLastEncounter": { @@ -14,33 +14,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { @@ -48,23 +33,7 @@ "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EioaIfduJfrzuNWQrpMTAzbKT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.049240112Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P20_(14).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2014.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P20_(14).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2014.json index 0f091bf07..b2e5c4458 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P20_(14).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2014.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P20 (14)", + "id": "PMID_36446582_Low,_2016_P20_(14)", "subject": { "id": "Low, 2016_P20 (14)", "timeAtLastEncounter": { @@ -12,49 +12,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -72,6 +52,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_lrSFGMrdlOwWcwmYgKPTCNcmh", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -106,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.073509216Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -133,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P21_(15).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2115.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P21_(15).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2115.json index b8fe7eeae..c553c6ceb 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P21_(15).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2115.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P21 (15)", + "id": "PMID_36446582_Low,_2016_P21_(15)", "subject": { "id": "Low, 2016_P21 (15)", "timeAtLastEncounter": { @@ -12,49 +12,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -72,6 +52,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_duhOYbsWHWvvumZAIIBmSBNhl", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -106,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.081100940Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -133,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P22_(16).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2216.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P22_(16).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2216.json index d32a9b12b..e640d7dd3 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P22_(16).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2216.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P22 (16)", + "id": "PMID_36446582_Low,_2016_P22_(16)", "subject": { "id": "Low, 2016_P22 (16)", "timeAtLastEncounter": { @@ -12,49 +12,29 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -72,6 +52,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_uuaqWjwaTkcZDMLBHWsuLjQOc", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -106,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.089663982Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -133,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P2_(26).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P226.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P2_(26).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P226.json index b70b6af7c..026221289 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P2_(26).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P226.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P2 (26)", + "id": "PMID_36446582_Low,_2016_P2_(26)", "subject": { "id": "Low, 2016_P2 (26)", "timeAtLastEncounter": { @@ -12,38 +12,23 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -61,6 +46,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -95,8 +81,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.065328836Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -122,15 +108,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P23_(17).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2317.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P23_(17).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2317.json index bdd0c6342..6e90154aa 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P23_(17).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2317.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P23 (17)", + "id": "PMID_36446582_Low,_2016_P23_(17)", "subject": { "id": "Low, 2016_P23 (17)", "timeAtLastEncounter": { @@ -14,44 +14,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -70,6 +44,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EBCbUvNEdMvEDeGHVMwXfpumQ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -104,8 +79,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.103435039Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -131,15 +106,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P24_(21).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2421.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P24_(21).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2421.json index ef11e7fa0..ce0b854a7 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P24_(21).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2421.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P24 (21)", + "id": "PMID_36446582_Low,_2016_P24_(21)", "subject": { "id": "Low, 2016_P24 (21)", "timeAtLastEncounter": { @@ -12,38 +12,23 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -61,6 +46,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EtQBeWQBCAIZxIBiHGdvobQkS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -95,8 +81,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.111597061Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -122,15 +108,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P25_(22).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2522.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P25_(22).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2522.json index 1f921a331..60b9bc040 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P25_(22).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2522.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P25 (22)", + "id": "PMID_36446582_Low,_2016_P25_(22)", "subject": { "id": "Low, 2016_P25 (22)", "timeAtLastEncounter": { @@ -13,38 +13,23 @@ { "type": { "id": "HP:0011446", - "label": "Abnormality of higher mental function" + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -62,6 +47,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LLVAeAYnhXIKirSpwzLazUaBK", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -96,8 +82,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.118995904Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -123,15 +109,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P26_(23).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2623.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P26_(23).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2623.json index a44a39157..3f3b5b8e3 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P26_(23).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2623.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P26 (23)", + "id": "PMID_36446582_Low,_2016_P26_(23)", "subject": { "id": "Low, 2016_P26 (23)", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_pWpJWdwHwdOQdPyOgbcTYuOPS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.127846002Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P27_(24).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2724.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P27_(24).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2724.json index 7fabda4b1..e8bc38324 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P27_(24).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2724.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P27 (24)", + "id": "PMID_36446582_Low,_2016_P27_(24)", "subject": { "id": "Low, 2016_P27 (24)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_YQRVWlHMOFZKJIasOgjarbIIY", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.141018152Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P28_(25).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2825.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P28_(25).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2825.json index 06d513296..2a9519db1 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P28_(25).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2825.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P28 (25)", + "id": "PMID_36446582_Low,_2016_P28_(25)", "subject": { "id": "Low, 2016_P28 (25)", "timeAtLastEncounter": { @@ -14,33 +14,18 @@ "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { @@ -48,23 +33,7 @@ "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_TfWtbfObqZQXShdwQHXuFTylY", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.156826019Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P29_(27).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2927.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P29_(27).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2927.json index b5257bd8e..c073b0073 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P29_(27).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P2927.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P29 (27)", + "id": "PMID_36446582_Low,_2016_P29_(27)", "subject": { "id": "Low, 2016_P29 (27)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_TMUfjODoQJILISYrnWkafsFqV", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.166316032Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P3_(4).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P34.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P3_(4).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P34.json index 9b9b29dc7..d63619e0e 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P3_(4).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P34.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P3 (4)", + "id": "PMID_36446582_Low,_2016_P3_(4)", "subject": { "id": "Low, 2016_P3 (4)", "timeAtLastEncounter": { @@ -12,38 +12,23 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -61,6 +46,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -95,8 +81,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.173999071Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -122,15 +108,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P4_(5).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P45.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P4_(5).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P45.json index c7aaeb7d8..0d09bd343 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P4_(5).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P45.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P4 (5)", + "id": "PMID_36446582_Low,_2016_P4_(5)", "subject": { "id": "Low, 2016_P4 (5)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.181028127Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P5_(6).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P56.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P5_(6).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P56.json index 314b3a045..349c834fa 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P5_(6).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P56.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P5 (6)", + "id": "PMID_36446582_Low,_2016_P5_(6)", "subject": { "id": "Low, 2016_P5 (6)", "timeAtLastEncounter": { @@ -12,48 +12,28 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true } ], "interpretations": [ @@ -71,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.188826799Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P6_(7).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P67.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P6_(7).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P67.json index 90ff6a67b..21f679eb0 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P6_(7).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P67.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P6 (7)", + "id": "PMID_36446582_Low,_2016_P6_(7)", "subject": { "id": "Low, 2016_P6 (7)", "timeAtLastEncounter": { @@ -12,37 +12,22 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0011446", + "label": "Abnormality of mental function" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -60,6 +45,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -94,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.195842027Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -121,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P78.json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P78.json new file mode 100644 index 000000000..8adb0dcea --- /dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P78.json @@ -0,0 +1,136 @@ +{ + "id": "PMID_36446582_Low,_2016_P7_(8)", + "subject": { + "id": "Low, 2016_P7 (8)", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0011446", + "label": "Abnormality of mental function" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Low, 2016_P7 (8)", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Low, 2016_P7 (8)", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "expressions": [ + { + "syntax": "hgvs.c", + "value": "NM_013275.6:c.1903_1907del" + }, + { + "syntax": "hgvs.g", + "value": "NC_000016.10:g.89284641_89284645del" + } + ], + "vcfRecord": { + "genomeAssembly": "hg38", + "chrom": "chr16", + "pos": "89284634", + "ref": "GTGTTT", + "alt": "G" + }, + "moleculeContext": "genomic", + "allelicState": { + "id": "GENO:0000135", + "label": "heterozygous" + } + } + } + } + ] + } + } + ], + "metaData": { + "created": "2023-11-25T12:07:37.203180074Z", + "createdBy": "ORCID:0000-0002-0736-9199", + "resources": [ + { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "2022-03-05", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, + { + "id": "hgnc", + "name": "HUGO Gene Nomenclature Committee", + "url": "https://www.genenames.org", + "version": "06/01/23", + "namespacePrefix": "HGNC", + "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" + }, + { + "id": "omim", + "name": "An Online Catalog of Human Genes and Genetic Disorders", + "url": "https://www.omim.org", + "version": "January 4, 2023", + "namespacePrefix": "OMIM", + "iriPrefix": "https://www.omim.org/entry/" + }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P8_(33).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P833.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P8_(33).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P833.json index a85512039..f5f200184 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P8_(33).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P833.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P8 (33)", + "id": "PMID_36446582_Low,_2016_P8_(33)", "subject": { "id": "Low, 2016_P8 (33)", "timeAtLastEncounter": { @@ -13,38 +13,23 @@ { "type": { "id": "HP:0011446", - "label": "Abnormality of higher mental function" + "label": "Abnormality of mental function" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -62,6 +47,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -96,8 +82,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.212258100Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -123,15 +109,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P9_(1).json b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P91.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P9_(1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Low2016_P91.json index 8ce417b4b..8503be359 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P9_(1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2016_P91.json @@ -1,5 +1,5 @@ { - "id": "Low, 2016_P9 (1)", + "id": "PMID_36446582_Low,_2016_P9_(1)", "subject": { "id": "Low, 2016_P9 (1)", "timeAtLastEncounter": { @@ -14,68 +14,32 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + }, + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.249806165Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low2017.json b/notebooks/KBG/phenopackets/PMID_36446582_Low2017.json index f78c2ead9..b34c54e63 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low2017.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Low2017.json @@ -1,5 +1,5 @@ { - "id": "Low2017", + "id": "PMID_36446582_Low2017", "subject": { "id": "Low2017", "timeAtLastEncounter": { @@ -14,121 +14,60 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -136,12 +75,7 @@ "id": "HP:0000365", "label": "Hearing impairment" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -159,6 +93,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_orACxEaHcHdmSGdfWkORrouVt", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -193,8 +128,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.266165971Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -220,15 +155,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P7_(8).json b/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P7_(8).json deleted file mode 100644 index a1811b019..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Low_2016_P7_(8).json +++ /dev/null @@ -1,87 +0,0 @@ -{ - "id": "Low, 2016_P7 (8)", - "subject": { - "id": "Low, 2016_P7 (8)", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Mattei2021.json b/notebooks/KBG/phenopackets/PMID_36446582_Mattei2021.json index 775ed5ab7..9634c78c2 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Mattei2021.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Mattei2021.json @@ -1,5 +1,5 @@ { - "id": "Mattei2021", + "id": "PMID_36446582_Mattei2021", "subject": { "id": "Mattei2021", "timeAtLastEncounter": { @@ -12,82 +12,47 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000356", + "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,6 +70,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -139,8 +105,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.276037931Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -166,15 +132,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2013.json b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2013.json new file mode 100644 index 000000000..5afdd979d --- /dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2013.json @@ -0,0 +1,175 @@ +{ + "id": "PMID_36446582_Miyatake,_2013", + "subject": { + "id": "Miyatake, 2013", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0010938", + "label": "Abnormal external nose morphology" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Miyatake, 2013", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Miyatake, 2013", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_cJuGEjFCubPQpkrXxnVOyBUlJ", + "label": "16q24.2-q24.3(88641808-89332049)x1 (hg19)", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "moleculeContext": "genomic", + "structuralType": { + "id": "SO:1000029", + "label": "chromosomal_deletion" + }, + "allelicState": { + "id": "GENO:0000135", + "label": "heterozygous" + } + } + } + } + ] + } + } + ], + "metaData": { + "created": "2023-11-25T12:07:37.284332036Z", + "createdBy": "ORCID:0000-0002-0736-9199", + "resources": [ + { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "2022-03-05", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, + { + "id": "hgnc", + "name": "HUGO Gene Nomenclature Committee", + "url": "https://www.genenames.org", + "version": "06/01/23", + "namespacePrefix": "HGNC", + "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" + }, + { + "id": "omim", + "name": "An Online Catalog of Human Genes and Genetic Disorders", + "url": "https://www.omim.org", + "version": "January 4, 2023", + "namespacePrefix": "OMIM", + "iriPrefix": "https://www.omim.org/entry/" + }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P1.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P1.json rename to notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P1.json index 500b76c47..77804b3bb 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P1.json @@ -1,5 +1,5 @@ { - "id": "Miyatake, 2017_P1", + "id": "PMID_36446582_Miyatake,_2017_P1", "subject": { "id": "Miyatake, 2017_P1", "timeAtLastEncounter": { @@ -14,80 +14,39 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0010938", + "label": "Abnormal external nose morphology" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,6 +64,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -139,8 +99,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.295639991Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -166,15 +126,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P2.json similarity index 72% rename from notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P2.json rename to notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P2.json index bba61b817..33a1418d5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P2.json @@ -1,5 +1,5 @@ { - "id": "Miyatake, 2017_P2", + "id": "PMID_36446582_Miyatake,_2017_P2", "subject": { "id": "Miyatake, 2017_P2", "timeAtLastEncounter": { @@ -14,90 +14,44 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -115,6 +69,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_HQjwVnWbzvVEdGzBPwfqKfTCA", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -149,8 +104,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.303210973Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -176,15 +131,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P3.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P3.json rename to notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P3.json index 0da2b32d9..8eab313a4 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2017_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake2017_P3.json @@ -1,5 +1,5 @@ { - "id": "Miyatake, 2017_P3", + "id": "PMID_36446582_Miyatake,_2017_P3", "subject": { "id": "Miyatake, 2017_P3", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -70,24 +39,14 @@ "id": "HP:0010938", "label": "Abnormal external nose morphology" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,6 +64,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_DcDeEtOqtFUUcbsNpkAeDCTgr", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -139,8 +99,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.310875892Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -166,15 +126,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2013.json b/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2013.json deleted file mode 100644 index c818358b5..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Miyatake_2013.json +++ /dev/null @@ -1,244 +0,0 @@ -{ - "id": "Miyatake, 2013", - "subject": { - "id": "Miyatake, 2013", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - } - ], - "interpretations": [ - { - "id": "Miyatake, 2013", - "progressStatus": "SOLVED", - "diagnosis": { - "disease": { - "id": "OMIM:148050", - "label": "KBG syndrome" - }, - "genomicInterpretations": [ - { - "subjectOrBiosampleId": "Miyatake, 2013", - "interpretationStatus": "CAUSATIVE", - "variantInterpretation": { - "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88575400" - }, - "endNumber": { - "value": "89265641" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3(88575400-89265641)x1 ", - "geneContext": { - "valueId": "HGNC:21316", - "symbol": "ANKRD11" - }, - "structuralType": { - "id": "SO:1000029", - "label": "chromosomal_deletion" - }, - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P10_(7.1.).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1071.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P10_(7.1.).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1071.json index 04396d4de..75173504d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P10_(7.1.).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1071.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P10 (7.1.)", + "id": "PMID_36446582_Murray,_2017_P10_(7.1.)", "subject": { "id": "Murray, 2017_P10 (7.1.)", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -81,12 +45,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_HQVBBBYxQUFVQoeuwDQnBQCto", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -138,8 +98,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.329539060Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -165,15 +125,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P1_(1.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P111.json similarity index 71% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P1_(1.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P111.json index 0df4c80bd..4a9beadeb 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P1_(1.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P111.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P1 (1.1)", + "id": "PMID_36446582_Murray,_2017_P1_(1.1)", "subject": { "id": "Murray, 2017_P1 (1.1)", "timeAtLastEncounter": { @@ -14,113 +14,57 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -138,6 +82,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -172,8 +117,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.318548917Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -199,15 +144,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P11_(8.1.).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1181.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P11_(8.1.).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1181.json index 73bf8c46d..8aa1edb42 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P11_(8.1.).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1181.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P11 (8.1.)", + "id": "PMID_36446582_Murray,_2017_P11_(8.1.)", "subject": { "id": "Murray, 2017_P11 (8.1.)", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_ISAesQnPWoUvxfoUiiZniGvpS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.337402820Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P12_(9.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1291.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P12_(9.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1291.json index 59e573ace..c8f9296dc 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P12_(9.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P1291.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P12 (9.1)", + "id": "PMID_36446582_Murray,_2017_P12_(9.1)", "subject": { "id": "Murray, 2017_P12 (9.1)", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_HQjwVnWbzvVEdGzBPwfqKfTCA", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.348753929Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P13_(11.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P13111.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P13_(11.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P13111.json index c783f34a2..3c92e3a3f 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P13_(11.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P13111.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P13 (11.1)", + "id": "PMID_36446582_Murray,_2017_P13_(11.1)", "subject": { "id": "Murray, 2017_P13 (11.1)", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_csxXhfgqHoQBxnMPqmMrnBSlN", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.356770038Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P16_(13.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P16131.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P16_(13.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P16131.json index aaac590d6..3d9689875 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P16_(13.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P16131.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P16 (13.1)", + "id": "PMID_36446582_Murray,_2017_P16_(13.1)", "subject": { "id": "Murray, 2017_P16 (13.1)", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_bFuvmKQIubUVZCQmIcdUMSBnf", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.366202831Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P2_(1.2).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P212.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P2_(1.2).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P212.json index 29c1d2fbf..3c468a9ff 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P2_(1.2).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P212.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P2 (1.2)", + "id": "PMID_36446582_Murray,_2017_P2_(1.2)", "subject": { "id": "Murray, 2017_P2 (1.2)", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.396808862Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P3_(1.3).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P313.json similarity index 72% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P3_(1.3).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P313.json index 111930d15..4d19f9f94 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P3_(1.3).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P313.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P3 (1.3)", + "id": "PMID_36446582_Murray,_2017_P3_(1.3)", "subject": { "id": "Murray, 2017_P3 (1.3)", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { @@ -70,36 +39,21 @@ "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -117,6 +71,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -151,8 +106,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.411711931Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -178,15 +133,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P4_(2.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P421.json similarity index 72% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P4_(2.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P421.json index f800abb44..f828d899a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P4_(2.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P421.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P4 (2.1)", + "id": "PMID_36446582_Murray,_2017_P4_(2.1)", "subject": { "id": "Murray, 2017_P4 (2.1)", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -103,12 +57,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -126,6 +75,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LZdxFCcajVLuVmWxBGsqnkRUd", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -160,8 +110,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.419851064Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -187,15 +137,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P5_(3.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P531.json similarity index 70% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P5_(3.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P531.json index 02ad3fb78..6d2fb9640 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P5_(3.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P531.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P5 (3.1)", + "id": "PMID_36446582_Murray,_2017_P5_(3.1)", "subject": { "id": "Murray, 2017_P5 (3.1)", "timeAtLastEncounter": { @@ -14,113 +14,57 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -138,6 +82,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_yfQJzuvTNxeUIBjVeFDfDbFvM", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -172,8 +117,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.427378892Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -199,15 +144,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P6_(3.2).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P632.json similarity index 72% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P6_(3.2).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P632.json index 379700f6d..19076b27c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P6_(3.2).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P632.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P6 (3.2)", + "id": "PMID_36446582_Murray,_2017_P6_(3.2)", "subject": { "id": "Murray, 2017_P6 (3.2)", "timeAtLastEncounter": { @@ -14,102 +14,51 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0000343", + "label": "Long philtrum" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -127,6 +76,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_yfQJzuvTNxeUIBjVeFDfDbFvM", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -161,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.441271066Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -188,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P7_(3.3).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P733.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P7_(3.3).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P733.json index ffd20d54d..833363e7b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P7_(3.3).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P733.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P7 (3.3)", + "id": "PMID_36446582_Murray,_2017_P7_(3.3)", "subject": { "id": "Murray, 2017_P7 (3.3)", "timeAtLastEncounter": { @@ -14,68 +14,32 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + }, + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_yfQJzuvTNxeUIBjVeFDfDbFvM", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.448905944Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P8_(4.1).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P841.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P8_(4.1).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P841.json index 9704a6aff..a6e9db066 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P8_(4.1).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P841.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P8 (4.1)", + "id": "PMID_36446582_Murray,_2017_P8_(4.1)", "subject": { "id": "Murray, 2017_P8 (4.1)", "timeAtLastEncounter": { @@ -14,110 +14,54 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -136,6 +80,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -170,8 +115,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.461282968Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -197,15 +142,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P9_(5.1.).json b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P951.json similarity index 68% rename from notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P9_(5.1.).json rename to notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P951.json index 6abb52578..c41156d83 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Murray_2017_P9_(5.1.).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Murray2017_P951.json @@ -1,5 +1,5 @@ { - "id": "Murray, 2017_P9 (5.1.)", + "id": "PMID_36446582_Murray,_2017_P9_(5.1.)", "subject": { "id": "Murray, 2017_P9 (5.1.)", "timeAtLastEncounter": { @@ -14,110 +14,54 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -125,36 +69,21 @@ "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -172,6 +101,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_pVVhWgQHfsucMFOyOLvgZQbis", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -206,8 +136,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.469546079Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -233,15 +163,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": 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features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P12.json similarity index 65% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P12.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P12.json index 2ff5d33b5..c8f475af4 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P12.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P12.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P12", + "id": "PMID_36446582_Novara,_2017_P12", "subject": { "id": "Novara, 2017_P12", "timeAtLastEncounter": { @@ -12,61 +12,36 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -84,31 +59,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88599769" - }, - "endNumber": { - "value": "89406219" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3(88599769_89406219)x1", + "id": "var_cyhhdwjOFljdKzhBUsOAmIlLo", + "label": "16q24.2-q24.3(88666177_89472627)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -125,8 +82,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.501691818Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -152,15 +109,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P2.json new file mode 100644 index 000000000..272997237 --- /dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P2.json @@ -0,0 +1,138 @@ +{ + "id": "PMID_36446582_Novara,_2017_P2", + "subject": { + "id": "Novara, 2017_P2", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Novara, 2017_P2", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Novara, 2017_P2", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_WqTwGolKqoDWrueIvbQUFXsZr", + "label": "16q24.2-q24.3 (87340135_89335428)x1 (hg19)", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "moleculeContext": "genomic", + "structuralType": { + "id": "SO:1000029", + "label": "chromosomal_deletion" + }, + "allelicState": { + "id": "GENO:0000135", + "label": "heterozygous" + } + } + } + } + ] + } + } + ], + "metaData": { + "created": "2023-11-25T12:07:37.512911081Z", + "createdBy": "ORCID:0000-0002-0736-9199", + "resources": [ + { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "2022-03-05", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, + { + "id": "hgnc", + "name": "HUGO Gene Nomenclature Committee", + "url": "https://www.genenames.org", + "version": "06/01/23", + "namespacePrefix": "HGNC", + "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" + }, + { + "id": "omim", + "name": "An Online Catalog of Human Genes and Genetic Disorders", + "url": "https://www.omim.org", + "version": "January 4, 2023", + "namespacePrefix": "OMIM", + "iriPrefix": "https://www.omim.org/entry/" + }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P3.json similarity index 61% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P3.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P3.json index fd5248395..f90da5590 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P3.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P3", + "id": "PMID_36446582_Novara,_2017_P3", "subject": { "id": "Novara, 2017_P3", "timeAtLastEncounter": { @@ -12,24 +12,20 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" } }, { @@ -37,47 +33,21 @@ "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -95,31 +65,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88197355" - }, - "endNumber": { - "value": "89297194" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3 (88197355_89297194)x1", + "id": "var_IYBWJmMOUuvRYeINLQUyhKDmM", + "label": "16q24.2-q24.3 (88230961_89363602)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -136,8 +88,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.520253896Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -163,15 +115,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P4.json similarity index 61% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P4.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P4.json index 09d3f0999..fc14ad32b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P4.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P4", + "id": "PMID_36446582_Novara,_2017_P4", "subject": { "id": "Novara, 2017_P4", "timeAtLastEncounter": { @@ -12,83 +12,48 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -106,31 +71,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88688904" - }, - "endNumber": { - "value": "89518004" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3 (88688904_89518004)x1", + "id": "var_WzkNWKkLQXLzBsBPUGeuZtyqc", + "label": "16q24.2-q24.3 (88755312_89584412)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -147,8 +94,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.528460025Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -174,15 +121,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P5.json similarity index 61% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P5.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P5.json index da880fa2d..54e1cf1b8 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P5.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P5", + "id": "PMID_36446582_Novara,_2017_P5", "subject": { "id": "Novara, 2017_P5", "timeAtLastEncounter": { @@ -12,13 +12,14 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" } }, { @@ -26,59 +27,28 @@ "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -96,31 +66,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88489783" - }, - "endNumber": { - "value": "89491503" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3 (88489783_89491503)x1", + "id": "var_prhdHsXINJDYAnbaJZiSWirrU", + "label": "16q24.2-q24.3 (88556191_89557911)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -137,8 +89,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.537399053Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +116,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P7.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P7.json similarity index 62% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P7.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P7.json index 4be557e3e..71d955a62 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P7.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P7", + "id": "PMID_36446582_Novara,_2017_P7", "subject": { "id": "Novara, 2017_P7", "timeAtLastEncounter": { @@ -12,24 +12,14 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { @@ -37,36 +27,21 @@ "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -84,31 +59,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88197154" - }, - "endNumber": { - "value": "89297334" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3 (88197154-89297334)x1", + "id": "var_dFuCQVvklXuKxmKcjovIacjQo", + "label": "16q24.2-q24.3 (88230760-89363742)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -125,8 +82,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.548702955Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -152,15 +109,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P8.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P8.json similarity index 64% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P8.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P8.json index 6d663c1de..d93d44571 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P8.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P8.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P8", + "id": "PMID_36446582_Novara,_2017_P8", "subject": { "id": "Novara, 2017_P8", "timeAtLastEncounter": { @@ -14,33 +14,12 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -59,31 +38,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88564199" - }, - "endNumber": { - "value": "89541334" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3 (88564199_89541334)x1", + "id": "var_EmbAMtToXqbpfwCYqUbtsStXP", + "label": "16q24.2-q24.3 (88630607_89607742)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -100,8 +61,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.565572023Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -127,15 +88,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P9.json similarity index 69% rename from notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P9.json rename to notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P9.json index c5eec466a..86383ba59 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Novara2017_P9.json @@ -1,5 +1,5 @@ { - "id": "Novara, 2017_P9", + "id": "PMID_36446582_Novara,_2017_P9", "subject": { "id": "Novara, 2017_P9", "timeAtLastEncounter": { @@ -14,11 +14,6 @@ "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -37,31 +32,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "87150055" - }, - "endNumber": { - "value": "89454395" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-q24.3 (87150055_89454395)x1", + "id": "var_tazzYsyZmQndjoicFfUqDOOXH", + "label": "16q24.2-q24.3 (87183661_89520803)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -78,8 +55,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.572369813Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -105,15 +82,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P1.json deleted file mode 100644 index 28deccf7e..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P1.json +++ /dev/null @@ -1,219 +0,0 @@ -{ - "id": "Novara, 2017_P1", - "subject": { - "id": "Novara, 2017_P1", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - 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b/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P2.json deleted file mode 100644 index 3c0a28bce..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Novara_2017_P2.json +++ /dev/null @@ -1,177 +0,0 @@ -{ - "id": "Novara, 2017_P2", - "subject": { - "id": "Novara, 2017_P2", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - 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"type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -70,12 +39,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_gmbqyjrpCXrqnWukNDbOiRETs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.576944112Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P10.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P10.json index e5dc5b416..e0be8c847 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P10.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P10.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P10", + "id": "PMID_36446582_Ockeloen2015_P10", "subject": { "id": "Ockeloen2015_P10", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.583030939Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P11.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P11.json index 280a5d459..ff3aa00e6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P11.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P11.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P11", + "id": "PMID_36446582_Ockeloen2015_P11", "subject": { "id": "Ockeloen2015_P11", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EnWnKEoCoHkNWfLpwGQQbPdux", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.594689130Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P12.json index 94254d4aa..fb4de91de 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P12.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P12.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P12", + "id": "PMID_36446582_Ockeloen2015_P12", "subject": { "id": "Ockeloen2015_P12", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -70,12 +39,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EnWnKEoCoHkNWfLpwGQQbPdux", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.601581096Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P13.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P13.json index 12b272853..e392f9513 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P13.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P13.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P13", + "id": "PMID_36446582_Ockeloen2015_P13", "subject": { "id": "Ockeloen2015_P13", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EnWnKEoCoHkNWfLpwGQQbPdux", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.609125852Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P14.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P14.json index 89950d2c9..de4e69559 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P14.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P14.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P14", + "id": "PMID_36446582_Ockeloen2015_P14", "subject": { "id": "Ockeloen2015_P14", "timeAtLastEncounter": { @@ -10,84 +10,43 @@ "sex": "MALE" }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,6 +64,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_WfBIBVJmpHvzUzhoyQoeBJaWJ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -139,8 +99,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.619272947Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -166,15 +126,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P15.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P15.json index d5e7bf6d9..56e25b9af 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P15.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P15.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P15", + "id": "PMID_36446582_Ockeloen2015_P15", "subject": { "id": "Ockeloen2015_P15", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -92,6 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_nFEyAEURLCjlUGdTSEVqTrTWC", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -126,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.627759218Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -153,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P16.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P16.json index 5df94725a..7dae899ce 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P16.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P16.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P16", + "id": "PMID_36446582_Ockeloen2015_P16", "subject": { "id": "Ockeloen2015_P16", "timeAtLastEncounter": { @@ -14,44 +14,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -59,12 +33,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,6 +51,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.642772912Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P17.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P17.json index 3eac1be17..e3d137e23 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P17.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P17.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P17", + "id": "PMID_36446582_Ockeloen2015_P17", "subject": { "id": "Ockeloen2015_P17", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_VkYsYchclIZWUWgmjZLxUjAnq", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.655905961Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P18.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P18.json index 730dbbfe5..9d5c5f7a0 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P18.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P18.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P18", + "id": "PMID_36446582_Ockeloen2015_P18", "subject": { "id": "Ockeloen2015_P18", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_txezHVdjRrpkHdtuNnBnoDjAQ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.664405107Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P19.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P19.json index aaf66633a..b81f1c1b1 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P19.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P19.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P19", + "id": "PMID_36446582_Ockeloen2015_P19", "subject": { "id": "Ockeloen2015_P19", "timeAtLastEncounter": { @@ -14,55 +14,24 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -81,6 +50,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_txezHVdjRrpkHdtuNnBnoDjAQ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -115,8 +85,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.676096916Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -142,15 +112,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P2.json index a01c848b1..c65160f49 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P2.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P2", + "id": "PMID_36446582_Ockeloen2015_P2", "subject": { "id": "Ockeloen2015_P2", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -81,12 +45,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_gmbqyjrpCXrqnWukNDbOiRETs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -138,8 +98,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.683420896Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -165,15 +125,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P20.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P20.json index fd576fc7e..6a1f72cd2 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P20.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P20.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P20", + "id": "PMID_36446582_Ockeloen2015_P20", "subject": { "id": "Ockeloen2015_P20", "timeAtLastEncounter": { @@ -13,33 +13,18 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { @@ -47,35 +32,14 @@ "id": "HP:0000325", "label": "Triangular face" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -93,31 +57,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88197484" - }, - "endNumber": { - "value": "89321695" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(88197484-89321695)x1", + "id": "var_nHRPHKmyuJInHOHtcuTSZtolq", + "label": "16q24.3(88231090-89388103)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -134,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.694876909Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -161,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P3.json index 598a0f258..14bb90961 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P3.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P3", + "id": "PMID_36446582_Ockeloen2015_P3", "subject": { "id": "Ockeloen2015_P3", "timeAtLastEncounter": { @@ -14,79 +14,38 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_gmbqyjrpCXrqnWukNDbOiRETs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -138,8 +98,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.702023029Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -165,15 +125,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P4.json index de423a0a9..cd594c303 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P4.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P4", + "id": "PMID_36446582_Ockeloen2015_P4", "subject": { "id": "Ockeloen2015_P4", "timeAtLastEncounter": { @@ -14,101 +14,50 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -126,6 +75,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_gmbqyjrpCXrqnWukNDbOiRETs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -160,8 +110,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.709336042Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -187,15 +137,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P5.json index 5c8ecacd2..36bfdbd73 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P5.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P5", + "id": "PMID_36446582_Ockeloen2015_P5", "subject": { "id": "Ockeloen2015_P5", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -92,6 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_gmbqyjrpCXrqnWukNDbOiRETs", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -126,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.717428922Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -153,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P6.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P6.json index 6cd6c8590..528150408 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P6.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P6.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P6", + "id": "PMID_36446582_Ockeloen2015_P6", "subject": { "id": "Ockeloen2015_P6", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -92,6 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_pLbuksWnEJPwdWIhkJXNMWmYW", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -126,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.724604845Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -153,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P7.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P7.json index d6c00c1bd..79e991f9c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P7.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P7", + "id": "PMID_36446582_Ockeloen2015_P7", "subject": { "id": "Ockeloen2015_P7", "timeAtLastEncounter": { @@ -12,35 +12,20 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -59,6 +44,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_dmzrkHUlrMOoQdAMWGnHKSwFj", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -93,8 +79,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.731855869Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -120,15 +106,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P8.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P8.json index b491293d4..1429d5025 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P8.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P8.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P8", + "id": "PMID_36446582_Ockeloen2015_P8", "subject": { "id": "Ockeloen2015_P8", "timeAtLastEncounter": { @@ -10,94 +10,48 @@ "sex": "FEMALE" }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true } ], "interpretations": [ @@ -115,6 +69,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_OhfjQVAqJanTDDMAlfrAScEiS", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -149,8 +104,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.759907007Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -176,15 +131,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P9.json index a0cff77d4..462bf6817 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Ockeloen2015_P9.json @@ -1,5 +1,5 @@ { - "id": "Ockeloen2015_P9", + "id": "PMID_36446582_Ockeloen2015_P9", "subject": { "id": "Ockeloen2015_P9", "timeAtLastEncounter": { @@ -14,68 +14,32 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + }, + "excluded": true } ], "interpretations": [ @@ -93,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_JHQVRzfXdpPhzFcMYuwYyBZbd", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.774317979Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -154,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": 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"type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0010938", + "label": "Abnormal external nose morphology" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Palumbo 2016", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Palumbo 2016", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_BDHzQRzncOnHcaJyVjdNAUUFy", + "label": "16q24.2q24.3 (87502161_89688617)x3 (hg19)", + 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morphology" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "excluded": true + } + ], + "interpretations": [ + { + "id": "Parenti2016_P1", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Parenti2016_P1", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_YdnMUIULwQHzjCSOlhzDwSiHb", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "expressions": [ + { + "syntax": "hgvs.c", + "value": "NM_013275.6:c.5483C>A" + }, + { + "syntax": "hgvs.g", + "value": "NC_000016.10:g.89281059G>T" + } + ], + "vcfRecord": { + "genomeAssembly": "hg38", + "chrom": "chr16", + "pos": "89281059", + "ref": "G", + "alt": "T" + }, + "moleculeContext": "genomic", + "allelicState": { + "id": "GENO:0000135", + "label": 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dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,6 +70,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_eZxvpMUwYpMrAGiCbhjOPGfFX", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -139,8 +105,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.803756952Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -166,15 +132,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P1.json index 1205544d8..8f2e9b1ce 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P1.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P1", + "id": "PMID_36446582_Parenti2021_P1", "subject": { "id": "Parenti2021_P1", "timeAtLastEncounter": { @@ -14,125 +14,64 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -150,6 +89,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_JqwvyXkUkvZvjqRBVCoSfnbZq", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -184,8 +124,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.816329002Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -211,15 +151,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + 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+ "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -139,6 +83,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_tyOnEfByfUHkgxMEhxLtfvsvG", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -173,8 +118,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.823988914Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -200,15 +145,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P11.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P11.json index e987c5bed..079adcc74 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P11.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P11.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P11", + "id": "PMID_36446582_Parenti2021_P11", "subject": { "id": "Parenti2021_P11", "timeAtLastEncounter": { @@ -14,114 +14,58 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -139,6 +83,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_WjgMKtWYMQTmlzzHteGpwBBma", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -173,8 +118,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.835558891Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -200,15 +145,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P12.json index 89829537b..f556371d6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P12.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P12.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P12", + "id": "PMID_36446582_Parenti2021_P12", "subject": { "id": "Parenti2021_P12", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_RBImmrSEKEoiFvhaqzIVGVyRX", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.843338012Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P13.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P13.json index 49b1fc1d6..daf964d0a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P13.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P13.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P13", + "id": "PMID_36446582_Parenti2021_P13", "subject": { "id": "Parenti2021_P13", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EioaIfduJfrzuNWQrpMTAzbKT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.850795030Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P14.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P14.json index ec7396575..aabb13537 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P14.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P14.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P14", + "id": "PMID_36446582_Parenti2021_P14", "subject": { "id": "Parenti2021_P14", "timeAtLastEncounter": { @@ -14,102 +14,51 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + }, + "excluded": true + }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -127,6 +76,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -161,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.860005855Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -188,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P15.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P15.json index 63d7f390f..c96445c8b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P15.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P15.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P15", + "id": "PMID_36446582_Parenti2021_P15", "subject": { "id": "Parenti2021_P15", "timeAtLastEncounter": { @@ -14,113 +14,57 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + }, + "excluded": true + }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -138,6 +82,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_DjiwuAFQQNEhttduwJbhNxdwO", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -172,8 +117,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.867952108Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -199,15 +144,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P16.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P16.json index 85142e70c..d0fcd16f2 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P16.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P16.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P16", + "id": "PMID_36446582_Parenti2021_P16", "subject": { "id": "Parenti2021_P16", "timeAtLastEncounter": { @@ -12,93 +12,53 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "excluded": true } ], "interpretations": [ @@ -116,6 +76,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_TeSjRuXlwEADyYdzohxxDrVXJ", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -150,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.875968933Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -177,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P17.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P17.json index c4223f96d..52979ef00 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P17.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P17.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P17", + "id": "PMID_36446582_Parenti2021_P17", "subject": { "id": "Parenti2021_P17", "timeAtLastEncounter": { @@ -14,114 +14,58 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0001263", + "label": "Global developmental delay" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -139,6 +83,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EioaIfduJfrzuNWQrpMTAzbKT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -173,8 +118,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.888041973Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -200,15 +145,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P18.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P18.json index b82860637..ca941c50c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P18.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P18.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P18", + "id": "PMID_36446582_Parenti2021_P18", "subject": { "id": "Parenti2021_P18", "timeAtLastEncounter": { @@ -14,112 +14,56 @@ "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0004322", + "label": "Short stature" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -137,6 +81,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -171,8 +116,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.895584106Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -198,15 +143,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P19.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P19.json index 2d5540269..1066d7f70 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P19.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P19.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P19", + "id": "PMID_36446582_Parenti2021_P19", "subject": { "id": "Parenti2021_P19", "timeAtLastEncounter": { @@ -14,125 +14,64 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000729", + "label": "Autistic behavior" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -150,6 +89,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -184,8 +124,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.905309915Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -211,15 +151,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P2.json index 5d0c71422..57d698d71 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P2.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P2", + "id": "PMID_36446582_Parenti2021_P2", "subject": { "id": "Parenti2021_P2", "timeAtLastEncounter": { @@ -12,106 +12,61 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -129,6 +84,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_PtoEjQpjovouwIxDtsezoBuaP", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -163,8 +119,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.913245916Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -190,15 +146,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P20.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P20.json index b370090ed..2905fb06a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P20.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P20.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P20", + "id": "PMID_36446582_Parenti2021_P20", "subject": { "id": "Parenti2021_P20", "timeAtLastEncounter": { @@ -14,102 +14,51 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + }, + "excluded": true + }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -127,6 +76,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -161,8 +111,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.920720815Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -188,15 +138,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P21.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P21.json index 16952cc7f..1b507a218 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P21.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P21.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P21", + "id": "PMID_36446582_Parenti2021_P21", "subject": { "id": "Parenti2021_P21", "timeAtLastEncounter": { @@ -14,110 +14,54 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -136,6 +80,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_kUXDvIwPnncgdZCkAaivnEJdb", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -170,8 +115,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.930548906Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -197,15 +142,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P22.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P22.json index 5c84d0b82..b7fcddfd9 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P22.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P22.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P22", + "id": "PMID_36446582_Parenti2021_P22", "subject": { "id": "Parenti2021_P22", "timeAtLastEncounter": { @@ -14,135 +14,69 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000729", - "label": "Autistic behavior" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + }, + "excluded": true } ], "interpretations": [ @@ -160,6 +94,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EioaIfduJfrzuNWQrpMTAzbKT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -194,8 +129,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.942883014Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -221,15 +156,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P23.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P23.json index 7c703d975..c89f559f3 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P23.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P23.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P23", + "id": "PMID_36446582_Parenti2021_P23", "subject": { "id": "Parenti2021_P23", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,31 +68,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89269018" - }, - "endNumber": { - "value": "89305395" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89269018-89305395)x1", + "id": "var_jKYXkkrmGIInOffBOjLfqxScj", + "label": "16q24.3(89335426-89371803)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -155,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.950515031Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -182,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P3.json index c6b28a8a8..8cd6255ec 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P3.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P3", + "id": "PMID_36446582_Parenti2021_P3", "subject": { "id": "Parenti2021_P3", "timeAtLastEncounter": { @@ -14,112 +14,56 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -137,6 +81,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_gbFKXZaEFAnSCvGbzXqDaCITC", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -171,8 +116,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.961313962Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -198,15 +143,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P4.json index 965d1980b..efc5bd082 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P4.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P4", + "id": "PMID_36446582_Parenti2021_P4", "subject": { "id": "Parenti2021_P4", "timeAtLastEncounter": { @@ -14,101 +14,50 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -126,6 +75,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_mpcOPrcBerHpzPWeOvlXUFtzx", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -160,8 +110,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.969048023Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -187,15 +137,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P5.json index 53537e972..273b5f972 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P5.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P5", + "id": "PMID_36446582_Parenti2021_P5", "subject": { "id": "Parenti2021_P5", "timeAtLastEncounter": { @@ -12,104 +12,59 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -127,6 +82,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EHhqaQBRxKgsHsNwdPxwKVzft", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -161,8 +117,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.976933956Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -188,15 +144,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P6.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P6.json index ae93838d1..cd6ce62d8 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P6.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P6.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P6", + "id": "PMID_36446582_Parenti2021_P6", "subject": { "id": "Parenti2021_P6", "timeAtLastEncounter": { @@ -14,114 +14,58 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -139,6 +83,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_BlrpooJFuHmpvfXtqLobpTIaT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -173,8 +118,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:37.996962070Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -200,15 +145,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P7.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P7.json index 0e8c8e76c..7b31347c5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P7.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P7", + "id": "PMID_36446582_Parenti2021_P7", "subject": { "id": "Parenti2021_P7", "timeAtLastEncounter": { @@ -12,107 +12,62 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0010938", + "label": "Abnormal external nose morphology" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { - "id": "HP:0010938", - "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" + "id": "HP:0001249", + "label": "Intellectual disability" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0001572", + "label": "Macrodontia" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -130,6 +85,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_euTrMEgSBYxmPzGnTXKkyYvCU", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -164,8 +120,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.012223005Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -191,15 +147,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P8.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P8.json index 9dce64146..dc699aba7 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P8.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P8.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P8", + "id": "PMID_36446582_Parenti2021_P8", "subject": { "id": "Parenti2021_P8", "timeAtLastEncounter": { @@ -14,125 +14,64 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000343", + "label": "Long philtrum" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000356", + "label": "Abnormality of the outer ear" } }, { "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001155", + "label": "Abnormality of the hand" } }, { "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" + "id": "HP:0000325", + "label": "Triangular face" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -150,6 +89,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LbKafBHZBLddsALxEdxVHKquX", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -184,8 +124,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.020620107Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -211,15 +151,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P9.json index 27744ab38..a4ba205a7 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Parenti2021_P9.json @@ -1,5 +1,5 @@ { - "id": "Parenti2021_P9", + "id": "PMID_36446582_Parenti2021_P9", "subject": { "id": "Parenti2021_P9", "timeAtLastEncounter": { @@ -14,113 +14,57 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true + }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -138,6 +82,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -172,8 +117,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.032032966Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -199,15 +144,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Rentas2021_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Rentas2021_P1.json index 04954eb5f..70ce73650 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Rentas2021_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Rentas2021_P1.json @@ -1,5 +1,5 @@ { - "id": "Rentas2021_P1", + "id": "PMID_36446582_Rentas2021_P1", "subject": { "id": "Rentas2021_P1", "timeAtLastEncounter": { @@ -14,33 +14,12 @@ "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { @@ -48,12 +27,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -71,6 +45,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sUTuhqpjgtmrpAgfpksIzhveX", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -105,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.041140079Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -132,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Reuter2020.json b/notebooks/KBG/phenopackets/PMID_36446582_Reuter2020.json deleted file mode 100644 index b459f936f..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Reuter2020.json +++ /dev/null @@ -1,99 +0,0 @@ -{ - "id": "Reuter2020", - "subject": { - "id": "Reuter2020", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "interpretations": [ - { - "id": "Reuter2020", - "progressStatus": "SOLVED", - "diagnosis": { - "disease": { - "id": "OMIM:148050", - "label": "KBG syndrome" - }, - "genomicInterpretations": [ - { - "subjectOrBiosampleId": "Reuter2020", - "interpretationStatus": "CAUSATIVE", - "variantInterpretation": { - "variationDescriptor": { - "geneContext": { - "valueId": "HGNC:21316", - "symbol": "ANKRD11" - }, - "expressions": [ - { - "syntax": "hgvs.c", - "value": "NM_013275.6:c.5238_5239del" - }, - { - "syntax": "hgvs.g", - "value": "NC_000016.10:g.89281304_89281305del" - } - ], - "vcfRecord": { - "genomeAssembly": "hg38", - "chrom": "chr16", - "pos": "89281302", - "ref": "GGC", - "alt": "G" - }, - "moleculeContext": "genomic", - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": 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/dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sacharow2012_P1.json @@ -0,0 +1,160 @@ +{ + "id": "PMID_36446582_Sacharow,_2012_P1", + "subject": { + "id": "Sacharow, 2012_P1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0000356", + "label": "Abnormality of the outer ear" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Sacharow, 2012_P1", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Sacharow, 2012_P1", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_QWAlyhUOEGHahfQvhkvOCtWuE", + "label": "16q24.3(89283689_89603390)x1 (hg19)", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "moleculeContext": "genomic", + "structuralType": { + "id": "SO:1000029", + "label": "chromosomal_deletion" + }, + "allelicState": { + "id": "GENO:0000135", + "label": "heterozygous" + } + } + } + } + ] + } + } + ], + "metaData": { + "created": "2023-11-25T12:07:38.049637079Z", + "createdBy": "ORCID:0000-0002-0736-9199", + "resources": [ + { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "2022-03-05", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, + { + "id": "hgnc", + "name": "HUGO Gene Nomenclature Committee", + "url": "https://www.genenames.org", + "version": "06/01/23", + "namespacePrefix": "HGNC", + "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" + }, + { + "id": "omim", + "name": "An Online Catalog of Human Genes and Genetic Disorders", + "url": "https://www.omim.org", + "version": "January 4, 2023", + "namespacePrefix": "OMIM", + "iriPrefix": "https://www.omim.org/entry/" + }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sacharow_2012_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Sacharow2012_P2.json similarity index 65% rename from notebooks/KBG/phenopackets/PMID_36446582_Sacharow_2012_P2.json rename to notebooks/KBG/phenopackets/PMID_36446582_Sacharow2012_P2.json index 27f296cf3..79d92799a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sacharow_2012_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sacharow2012_P2.json @@ -1,5 +1,5 @@ { - "id": "Sacharow, 2012_P2", + "id": "PMID_36446582_Sacharow,_2012_P2", "subject": { "id": "Sacharow, 2012_P2", "timeAtLastEncounter": { @@ -12,35 +12,20 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -59,31 +44,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89228899" - }, - "endNumber": { - "value": "89593971" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89228899-89593971)x1", + "id": "var_qIFYmGgFIoiACldxPOrSUJdpt", + "label": "16q24.3(89295307-89660379)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -100,8 +67,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.057210922Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -127,15 +94,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sacharow_2012_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Sacharow_2012_P1.json deleted file mode 100644 index b502b8794..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sacharow_2012_P1.json +++ /dev/null @@ -1,219 +0,0 @@ -{ - "id": "Sacharow, 2012_P1", - "subject": { - "id": "Sacharow, 2012_P1", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0007018", - "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - } - ], - "interpretations": [ - { - "id": "Sacharow, 2012_P1", - "progressStatus": "SOLVED", - "diagnosis": { - "disease": { - "id": "OMIM:148050", - "label": "KBG syndrome" - }, - "genomicInterpretations": [ - { - "subjectOrBiosampleId": "Sacharow, 2012_P1", - "interpretationStatus": "CAUSATIVE", - "variantInterpretation": { - "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89217281" - }, - "endNumber": { - "value": "89536982" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89217281_89536982)x1", - "geneContext": { - "valueId": "HGNC:21316", - "symbol": "ANKRD11" - }, - "structuralType": { - "id": "SO:1000029", - "label": "chromosomal_deletion" - }, - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sayed_2020_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Sayed2020_P1.json similarity index 70% rename from notebooks/KBG/phenopackets/PMID_36446582_Sayed_2020_P1.json rename to notebooks/KBG/phenopackets/PMID_36446582_Sayed2020_P1.json index edc0a2fbe..b879f7477 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sayed_2020_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sayed2020_P1.json @@ -1,5 +1,5 @@ { - "id": "Sayed, 2020_P1", + "id": "PMID_36446582_Sayed,_2020_P1", "subject": { "id": "Sayed, 2020_P1", "timeAtLastEncounter": { @@ -14,121 +14,60 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -147,6 +86,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_bzFlFrmsGhhHALELNxKHGyzxB", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -181,8 +121,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.065692901Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -208,15 +148,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sayed_2020_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Sayed2020_P2.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Sayed_2020_P2.json rename to notebooks/KBG/phenopackets/PMID_36446582_Sayed2020_P2.json index 75600d28a..760a1205b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sayed_2020_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sayed2020_P2.json @@ -1,5 +1,5 @@ { - "id": "Sayed, 2020_P2", + "id": "PMID_36446582_Sayed,_2020_P2", "subject": { "id": "Sayed, 2020_P2", "timeAtLastEncounter": { @@ -12,82 +12,47 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0004322", + "label": "Short stature" } }, { "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { - "id": "HP:0004322", - "label": "Short stature" + "id": "HP:0001155", + "label": "Abnormality of the hand" }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,6 +70,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_bzFlFrmsGhhHALELNxKHGyzxB", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -139,8 +105,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.074233055Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -166,15 +132,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P1.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P1.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P1.json index adf7329ef..69e78fa31 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P1.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P1", + "id": "PMID_36446582_Scarano,_2013_P1", "subject": { "id": "Scarano, 2013_P1", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_CLvWvkGjpVtXKgoLAuvVjRtcT", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.082464933Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P10.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P10.json new file mode 100644 index 000000000..4eeaaed95 --- /dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P10.json @@ -0,0 +1,142 @@ +{ + "id": "PMID_36446582_Scarano,_2013_P10", + "subject": { + "id": "Scarano, 2013_P10", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000356", + "label": "Abnormality of the outer ear" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Scarano, 2013_P10", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Scarano, 2013_P10", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_lCItMWtaCBpnRjFKjFVpkuCXs", + "label": "16q24.2-q24.3 (89283689_89429735)x1 (hg19)", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "moleculeContext": "genomic", + "structuralType": { + "id": "SO:1000029", + "label": "chromosomal_deletion" + }, + "allelicState": { + "id": "GENO:0000135", + "label": "heterozygous" + } + } + } + } + ] + } + } + ], + "metaData": { + "created": "2023-11-25T12:07:38.099841117Z", + "createdBy": "ORCID:0000-0002-0736-9199", + "resources": [ + { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "2022-03-05", + 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+ } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P11.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P11.json new file mode 100644 index 000000000..71fdf72ad --- /dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P11.json @@ -0,0 +1,147 @@ +{ + "id": "PMID_36446582_Scarano,_2013_P11", + "subject": { + "id": "Scarano, 2013_P11", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000356", + "label": "Abnormality of the outer ear" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "interpretations": [ + { + "id": "Scarano, 2013_P11", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Scarano, 2013_P11", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_zVsuLsDtWGNWEdpJcpyUSJxMe", + "label": "16q24.3 (89335428_89559189)x1 (hg19)", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "moleculeContext": "genomic", + "structuralType": { + "id": 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"Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P12.json similarity index 61% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P12.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P12.json index 655261a45..519a2e90a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P12.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P12.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P12", + "id": "PMID_36446582_Scarano,_2013_P12", "subject": { "id": "Scarano, 2013_P12", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -81,12 +45,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,31 +63,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89363268" - }, - "endNumber": { - "value": "89492781" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3 (89363268_89492781)x1", + "id": "var_DcVQWFkuMqjXSRkvhKfeqzbjZ", + "label": "16q24.3 (89429676_89559189)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -145,8 +86,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.115072011Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -172,15 +113,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P2.json similarity index 77% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P2.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P2.json index aff91ae12..90e8723d0 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P2.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P2", + "id": "PMID_36446582_Scarano,_2013_P2", "subject": { "id": "Scarano, 2013_P2", "timeAtLastEncounter": { @@ -12,46 +12,26 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -59,12 +39,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -82,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_UgOWPmhCVOXEFrTEYXZBQIbqq", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.122590065Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P3.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P3.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P3.json index 706408a53..09e0e50d7 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P3.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P3", + "id": "PMID_36446582_Scarano,_2013_P3", "subject": { "id": "Scarano, 2013_P3", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_IUGLIRxySYIlcrtgUPgtBbPBe", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.128911018Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P4.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P4.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P4.json index dd0227080..92e387da5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P4.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P4", + "id": "PMID_36446582_Scarano,_2013_P4", "subject": { "id": "Scarano, 2013_P4", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_JkBTJMsMuYnrighofRPhKLddM", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.135581016Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P5.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P5.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P5.json index f2e37bf5a..0586e6c55 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P5.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P5", + "id": "PMID_36446582_Scarano,_2013_P5", "subject": { "id": "Scarano, 2013_P5", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_rvFfoLuIiTeKLRxQtRqrwIVXa", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.141706943Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P6.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P6.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P6.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P6.json index 3f64a0e7c..da436ed2c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P6.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P6.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P6", + "id": "PMID_36446582_Scarano,_2013_P6", "subject": { "id": "Scarano, 2013_P6", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_KdRjTnaKxMWoaxTdPfYeHHucO", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.148621082Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P7.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P7.json similarity index 76% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P7.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P7.json index f2d1530ea..ef09666fe 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P7.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P7", + "id": "PMID_36446582_Scarano,_2013_P7", "subject": { "id": "Scarano, 2013_P7", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_EYbkUBOirDscCuDZTznVBgVUP", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.155023813Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P8.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P8.json similarity index 78% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P8.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P8.json index 759b6c94b..f5fc6117c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P8.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P8.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P8", + "id": "PMID_36446582_Scarano,_2013_P8", "subject": { "id": "Scarano, 2013_P8", "timeAtLastEncounter": { @@ -12,70 +12,40 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true } ], "interpretations": [ @@ -93,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_dGCaUHdGXPzBbjtTRiqlMTPXF", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -127,8 +98,8 @@ } ], "metaData": { - "created": 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delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P9.json similarity index 75% rename from notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P9.json rename to notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P9.json index 510e32f51..01d86f78f 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Scarano2013_P9.json @@ -1,5 +1,5 @@ { - "id": "Scarano, 2013_P9", + "id": "PMID_36446582_Scarano,_2013_P9", "subject": { "id": "Scarano, 2013_P9", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_tyuLNQePTKmrgdfShycilIIPv", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.167344093Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + 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a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P11.json b/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P11.json deleted file mode 100644 index 6a76da738..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Scarano_2013_P11.json +++ /dev/null @@ -1,196 +0,0 @@ -{ - "id": "Scarano, 2013_P11", - "subject": { - "id": "Scarano, 2013_P11", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000356", - "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - } - ], - "interpretations": [ - { - "id": "Scarano, 2013_P11", - "progressStatus": "SOLVED", - "diagnosis": { - "disease": { - "id": "OMIM:148050", - "label": "KBG syndrome" - }, - "genomicInterpretations": [ - { - "subjectOrBiosampleId": "Scarano, 2013_P11", - "interpretationStatus": "CAUSATIVE", - "variantInterpretation": { - "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89269020" - }, - "endNumber": { - "value": "89492781" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3 (89269020_89492781)x1", - "geneContext": { - "valueId": "HGNC:21316", - "symbol": "ANKRD11" - }, - "structuralType": { - "id": "SO:1000029", - "label": "chromosomal_deletion" - }, - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P1F1_(previously_published_Tekin_2004).json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P1F1previouslypublishedTekin2004.json similarity index 73% rename from notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P1F1_(previously_published_Tekin_2004).json rename to notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P1F1previouslypublishedTekin2004.json index 02ca812be..164ebd0e3 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P1F1_(previously_published_Tekin_2004).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P1F1previouslypublishedTekin2004.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P1/F1? (previously published Tekin, 2004)", + "id": "PMID_36446582_Sirmaci2011_P1/F1?_(previously_published_Tekin,_2004)", "subject": { "id": "Sirmaci2011_P1/F1? (previously published Tekin, 2004)", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LWGNgLqmaVNlIuKqHMAIlzIrV", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.172732830Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2.json index 6c6be44ef..ef029349c 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P2", + "id": "PMID_36446582_Sirmaci2011_P2", "subject": { "id": "Sirmaci2011_P2", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_PZihAMcHWxoUzwPBiDQFxKoeK", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.178345918Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2F1_(previously_published_Tekin_2004).json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2F1previouslypublishedTekin2004.json similarity index 71% rename from notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2F1_(previously_published_Tekin_2004).json rename to notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2F1previouslypublishedTekin2004.json index 8315eab15..6a2078905 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2F1_(previously_published_Tekin_2004).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P2F1previouslypublishedTekin2004.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P2/F1? (previously published Tekin, 2004)", + "id": "PMID_36446582_Sirmaci2011_P2/F1?_(previously_published_Tekin,_2004)", "subject": { "id": "Sirmaci2011_P2/F1? (previously published Tekin, 2004)", "timeAtLastEncounter": { @@ -14,121 +14,60 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -147,6 +86,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LWGNgLqmaVNlIuKqHMAIlzIrV", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -181,8 +121,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.182862043Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -208,15 +148,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3.json index 7f3155dd1..f797f47f5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P3", + "id": "PMID_36446582_Sirmaci2011_P3", "subject": { "id": "Sirmaci2011_P3", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_hgFBobfyCrCngGTEEDsIryzEb", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.187815904Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3F1_(previously_published_Tekin_2004).json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3F1previouslypublishedTekin2004.json similarity index 73% rename from notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3F1_(previously_published_Tekin_2004).json rename to notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3F1previouslypublishedTekin2004.json index b9b872f0f..49e5e5c9d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3F1_(previously_published_Tekin_2004).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P3F1previouslypublishedTekin2004.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P3/F1? (previously published Tekin, 2004)", + "id": "PMID_36446582_Sirmaci2011_P3/F1?_(previously_published_Tekin,_2004)", "subject": { "id": "Sirmaci2011_P3/F1? (previously published Tekin, 2004)", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_LWGNgLqmaVNlIuKqHMAIlzIrV", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.194332838Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P4_(previously_published_Brancati_2004).json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P4previouslypublishedBrancati2004.json similarity index 74% rename from notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P4_(previously_published_Brancati_2004).json rename to notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P4previouslypublishedBrancati2004.json index a6d49dc36..4601f8ef2 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P4_(previously_published_Brancati_2004).json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P4previouslypublishedBrancati2004.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P4 (previously published Brancati, 2004)", + "id": "PMID_36446582_Sirmaci2011_P4_(previously_published_Brancati,_2004)", "subject": { "id": "Sirmaci2011_P4 (previously published Brancati, 2004)", "timeAtLastEncounter": { @@ -14,99 +14,48 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -125,6 +74,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_iQBrpeUTJfoQqUOVKFFQwhTJG", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -159,8 +109,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.199973106Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -186,15 +136,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P5.json index 5b309d0bb..abc3e8a9d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Sirmaci2011_P5.json @@ -1,5 +1,5 @@ { - "id": "Sirmaci2011_P5", + "id": "PMID_36446582_Sirmaci2011_P5", "subject": { "id": "Sirmaci2011_P5", "timeAtLastEncounter": { @@ -14,88 +14,42 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0000343", "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -114,6 +68,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_avoFGbbcrtIuzSiMZzqxNDgPG", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -148,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.208304166Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -175,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Spengler_2013.json b/notebooks/KBG/phenopackets/PMID_36446582_Spengler2013.json similarity index 63% rename from notebooks/KBG/phenopackets/PMID_36446582_Spengler_2013.json rename to notebooks/KBG/phenopackets/PMID_36446582_Spengler2013.json index c3ac8fff0..6d43140c5 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Spengler_2013.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Spengler2013.json @@ -1,5 +1,5 @@ { - "id": "Spengler, 2013", + "id": "PMID_36446582_Spengler,_2013", "subject": { "id": "Spengler, 2013", "timeAtLastEncounter": { @@ -12,81 +12,46 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true } ], "interpretations": [ @@ -104,31 +69,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89305430" - }, - "endNumber": { - "value": "89541006" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89305430_89541006)x1", + "id": "var_blvCIEHrJkbNWSZOWMreJgOcL", + "label": "16q24.3(89371838_89607414)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -145,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.217509984Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -172,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Srivastava2017_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Srivastava2017_P1.json new file mode 100644 index 000000000..ab5ba7304 --- /dev/null +++ b/notebooks/KBG/phenopackets/PMID_36446582_Srivastava2017_P1.json @@ -0,0 +1,148 @@ +{ + "id": "PMID_36446582_Srivastava,_2017_P1", + "subject": { + "id": "Srivastava, 2017_P1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001572", + "label": "Macrodontia" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + }, + "excluded": true + } + ], + "interpretations": [ + { + "id": "Srivastava, 2017_P1", + "progressStatus": "SOLVED", + "diagnosis": { + "disease": { + "id": "OMIM:148050", + "label": "KBG syndrome" + }, + "genomicInterpretations": [ + { + "subjectOrBiosampleId": "Srivastava, 2017_P1", + "interpretationStatus": "CAUSATIVE", + "variantInterpretation": { + "variationDescriptor": { + "id": "var_AKmAFTMoAmupEBTKwZlOBAnoR", + "label": "16q24.1q24.3 (86680657_89578069)x1 (hg19)", + "geneContext": { + "valueId": "HGNC:21316", + "symbol": "ANKRD11" + }, + "moleculeContext": "genomic", + "structuralType": { + "id": "SO:1000029", + "label": "chromosomal_deletion" + }, + "allelicState": { + "id": "GENO:0000135", + "label": "heterozygous" + } + } + } + } + ] + } + } + ], + "metaData": { + "created": "2023-11-25T12:07:38.222004890Z", + "createdBy": "ORCID:0000-0002-0736-9199", + "resources": [ + { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "2022-03-05", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, + { + "id": "hgnc", + "name": "HUGO Gene Nomenclature Committee", + "url": "https://www.genenames.org", + "version": "06/01/23", + "namespacePrefix": "HGNC", + "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" + }, + { + "id": "omim", + "name": "An Online Catalog of Human Genes and Genetic Disorders", + "url": "https://www.omim.org", + "version": "January 4, 2023", + "namespacePrefix": "OMIM", + "iriPrefix": "https://www.omim.org/entry/" + }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2023-10-09", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + } + ], + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] + } +} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Srivastava_2017_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Srivastava_2017_P1.json deleted file mode 100644 index 881cfdf1b..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_Srivastava_2017_P1.json +++ /dev/null @@ -1,186 +0,0 @@ -{ - "id": "Srivastava, 2017_P1", - "subject": { - "id": "Srivastava, 2017_P1", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "phenotypicFeatures": [ - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000343", - "label": "Long philtrum" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0001155", - "label": "Abnormality of the hand" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0004322", - "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - } - ], - "interpretations": [ - { - "id": "Srivastava, 2017_P1", - "progressStatus": "SOLVED", - "diagnosis": { - "disease": { - "id": "OMIM:148050", - "label": "KBG syndrome" - }, - "genomicInterpretations": [ - { - "subjectOrBiosampleId": "Srivastava, 2017_P1", - "interpretationStatus": "CAUSATIVE", - "variantInterpretation": { - "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "86647051" - }, - "endNumber": { - "value": "89511661" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.1q24.3 (86647051_89511661)x1", - "geneContext": { - "valueId": "HGNC:21316", - "symbol": "ANKRD11" - }, - "structuralType": { - "id": "SO:1000029", - "label": "chromosomal_deletion" - }, - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P1.json index 2c987f156..1d48f6444 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P1.json @@ -1,5 +1,5 @@ { - "id": "VanDongen2019_P1", + "id": "PMID_36446582_VanDongen2019_P1", "subject": { "id": "VanDongen2019_P1", "timeAtLastEncounter": { @@ -14,11 +14,6 @@ "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -37,6 +32,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_chywWnQtjOKUEMKojXxgdxxHf", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -71,8 +67,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.226713180Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -98,15 +94,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P10.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P10.json index 48ea0f650..c76020aed 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P10.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P10.json @@ -1,5 +1,5 @@ { - "id": "VanDongen2019_P10", + "id": "PMID_36446582_VanDongen2019_P10", "subject": { "id": "VanDongen2019_P10", "timeAtLastEncounter": { @@ -14,11 +14,6 @@ "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -37,6 +32,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_HPteJkZVzCbYcknUYIBUqkIrI", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -71,8 +67,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.233969926Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -98,15 +94,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json deleted file mode 100644 index 7f9291dc8..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json +++ /dev/null @@ -1,99 +0,0 @@ -{ - "id": "VanDongen2019_P12", - "subject": { - "id": "VanDongen2019_P12", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "MALE" - }, - "interpretations": [ - 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}, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json deleted file mode 100644 index 9a22ad258..000000000 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json +++ /dev/null @@ -1,99 +0,0 @@ -{ - "id": "VanDongen2019_P9", - "subject": { - "id": "VanDongen2019_P9", - "timeAtLastEncounter": { - "age": { - "iso8601duration": "P2Y" - } - }, - "sex": "FEMALE" - }, - "interpretations": [ - { - "id": "VanDongen2019_P9", - "progressStatus": "SOLVED", - "diagnosis": { - "disease": { - "id": "OMIM:148050", - "label": "KBG syndrome" - }, - "genomicInterpretations": [ - { - "subjectOrBiosampleId": "VanDongen2019_P9", - "interpretationStatus": "CAUSATIVE", - "variantInterpretation": { - "variationDescriptor": { - "geneContext": { - "valueId": "HGNC:21316", - "symbol": "ANKRD11" - }, - "expressions": [ - { - "syntax": "hgvs.c", - "value": "NM_013275.6:c.1903_1907del" - }, - { - "syntax": "hgvs.g", - "value": "NC_000016.10:g.89284641_89284645del" - } - ], - "vcfRecord": { - "genomeAssembly": "hg38", - "chrom": "chr16", - "pos": "89284634", - "ref": "GTGTTT", - "alt": "G" - }, - "moleculeContext": "genomic", - "allelicState": { - "id": "GENO:0000135", - "label": "heterozygous" - } - } - } - } - ] - } - } - ], - "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", - "resources": [ - { - "id": "geno", - "name": "Genotype Ontology", - "url": "http://purl.obolibrary.org/obo/geno.owl", - "version": "2022-03-05", - "namespacePrefix": "GENO", - "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" - }, - { - "id": "hgnc", - "name": "HUGO Gene Nomenclature Committee", - "url": "https://www.genenames.org", - "version": "06/01/23", - "namespacePrefix": "HGNC", - "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" - }, - { - "id": "omim", - "name": "An Online Catalog of Human Genes and Genetic Disorders", - "url": "https://www.omim.org", - "version": "January 4, 2023", - "namespacePrefix": "OMIM", - "iriPrefix": "https://www.omim.org/entry/" - }, - { - "id": "hp", - "name": "human phenotype ontology", - "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", - "namespacePrefix": "HP", - "iriPrefix": "http://purl.obolibrary.org/obo/HP_" - } - ], - "phenopacketSchemaVersion": "2.0" - } -} \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json index b6649b125..32d58f2f4 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json @@ -1,5 +1,5 @@ { - "id": "Walz2015_PA", + "id": "PMID_36446582_Walz2015_PA", "subject": { "id": "Walz2015_PA", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_yPovKgJIgeKRbxwzoWPJcAPrV", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.247813224Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json index d7fc80886..62796518f 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json @@ -1,5 +1,5 @@ { - "id": "Walz2015_PB", + "id": "PMID_36446582_Walz2015_PB", "subject": { "id": "Walz2015_PB", "timeAtLastEncounter": { @@ -14,77 +14,36 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -103,6 +62,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_sSKeLEDtphMkieNVenyvcASSH", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -137,8 +97,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.257282018Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -164,15 +124,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json index b93f0db25..a2d839ca4 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json @@ -1,5 +1,5 @@ { - "id": "Walz2015_PC", + "id": "PMID_36446582_Walz2015_PC", "subject": { "id": "Walz2015_PC", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -81,12 +45,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_zkhqliAxkHgtxmUFGJxulXrTz", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -138,8 +98,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.263149976Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -165,15 +125,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json index 10df0e80d..5bee37836 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json @@ -1,5 +1,5 @@ { - "id": "Walz2015_PD", + "id": "PMID_36446582_Walz2015_PD", "subject": { "id": "Walz2015_PD", "timeAtLastEncounter": { @@ -12,59 +12,34 @@ "phenotypicFeatures": [ { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "excluded": true } ], "interpretations": [ @@ -82,6 +57,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_CpAjqwkkdotmuhmPzZxIkyhuh", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -116,8 +92,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.268208026Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -143,15 +119,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json index e78404049..ade1d1ba3 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json @@ -1,5 +1,5 @@ { - "id": "Walz2015_PE", + "id": "PMID_36446582_Walz2015_PE", "subject": { "id": "Walz2015_PE", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -92,6 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_TVpXCmrvGTBITtUmQprcrjfOt", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -126,8 +91,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.278283119Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -153,15 +118,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json index 1a0452495..733207018 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json @@ -1,5 +1,5 @@ { - "id": "Walz2015_Pf", + "id": "PMID_36446582_Walz2015_Pf", "subject": { "id": "Walz2015_Pf", "timeAtLastEncounter": { @@ -14,66 +14,30 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000574", + "label": "Thick eyebrow" } }, { "type": { "id": "HP:0001155", "label": "Abnormality of the hand" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -81,12 +45,7 @@ "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -104,6 +63,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { + "id": "var_JzeATmlItVTOFDQopjBQgcHUa", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" @@ -138,8 +98,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.286013841Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -165,15 +125,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json index b7b0a6d63..25d44a770 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json @@ -1,5 +1,5 @@ { - "id": "Willemsen2010_P1", + "id": "PMID_36446582_Willemsen2010_P1", "subject": { "id": "Willemsen2010_P1", "timeAtLastEncounter": { @@ -14,68 +14,32 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000325", - "label": "Triangular face" - }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "excluded": true } ], "interpretations": [ @@ -93,31 +57,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89056331" - }, - "endNumber": { - "value": "89434622" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89056331_89434622)x1", + "id": "var_sWIezGFRaFLXSsjMJLZGJFtJM", + "label": "16q24.3(89122739_89501030)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -134,8 +80,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.295340061Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -161,15 +107,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json index 1b14fdadf..8d8f84ead 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json @@ -1,5 +1,5 @@ { - "id": "Willemsen2010_P2", + "id": "PMID_36446582_Willemsen2010_P2", "subject": { "id": "Willemsen2010_P2", "timeAtLastEncounter": { @@ -14,33 +14,12 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -48,24 +27,14 @@ "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -83,31 +52,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "89206684" - }, - "endNumber": { - "value": "89472351" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(89206684_89472351)x1", + "id": "var_dFEDCDtKpNGDJVzmMbWZtlknA", + "label": "16q24.3(89273092_89538759)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -124,8 +75,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.306293964Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -151,15 +102,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json index 3305c18a6..d65b8db1a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json @@ -1,5 +1,5 @@ { - "id": "Willemsen2010_P3", + "id": "PMID_36446582_Willemsen2010_P3", "subject": { "id": "Willemsen2010_P3", "timeAtLastEncounter": { @@ -14,80 +14,39 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0000365", + "label": "Hearing impairment" } }, { "type": { - "id": "HP:0000534", - "label": "Abnormal eyebrow morphology" + "id": "HP:0000574", + "label": "Thick eyebrow" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -105,31 +64,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "87464658" - }, - "endNumber": { - "value": "89530534" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-24.3(87464658_89530534)x1", + "id": "var_RAuoAPPrJWRfIIzgRpJdNndJx", + "label": "16q24.2-24.3(87498264_89596942)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -146,8 +87,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.313267946Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -173,15 +114,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json index 7533183d3..08be2a67f 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json @@ -1,5 +1,5 @@ { - "id": "Willemsen2010_P4", + "id": "PMID_36446582_Willemsen2010_P4", "subject": { "id": "Willemsen2010_P4", "timeAtLastEncounter": { @@ -14,33 +14,12 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { @@ -48,24 +27,14 @@ "id": "HP:0000356", "label": "Abnormality of the outer ear" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true }, { "type": { "id": "HP:0004322", "label": "Short stature" }, - "excluded": true, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } + "excluded": true } ], "interpretations": [ @@ -83,31 +52,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "88197355" - }, - "endNumber": { - "value": "89297194" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.2-24.3(88197355_89297194)x1", + "id": "var_AytWsyWieGZkaMxPuhgPvaEFI", + "label": "16q24.2-24.3(88230961_89363602)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -124,8 +75,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.323611974Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -151,15 +102,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json b/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json index ba7925fd5..c2070911e 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json @@ -1,5 +1,5 @@ { - "id": "Youngs2011", + "id": "PMID_36446582_Youngs2011", "subject": { "id": "Youngs2011", "timeAtLastEncounter": { @@ -14,110 +14,54 @@ "type": { "id": "HP:0001249", "label": "Intellectual disability" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000729", "label": "Autistic behavior" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0007018", "label": "Attention deficit hyperactivity disorder" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } - } - }, - { - "type": { - "id": "HP:0012758", - "label": "Neurodevelopmental delay" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { - "id": "HP:0011446", - "label": "Abnormality of higher mental function" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001263", + "label": "Global developmental delay" } }, { "type": { - "id": "HP:0006482", - "label": "Abnormality of dental morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } + "id": "HP:0001572", + "label": "Macrodontia" } }, { "type": { "id": "HP:0010938", "label": "Abnormal external nose morphology" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000325", "label": "Triangular face" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0004322", "label": "Short stature" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } }, { "type": { "id": "HP:0000365", "label": "Hearing impairment" - }, - "onset": { - "age": { - "iso8601duration": "P2Y" - } } } ], @@ -136,31 +80,13 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "variation": { - "copyNumber": { - "allele": { - "sequenceLocation": { - "sequenceId": "refseq:NC_000016.10", - "sequenceInterval": { - "startNumber": { - "value": "87886394" - }, - "endNumber": { - "value": "88066394" - } - } - } - }, - "number": { - "value": "1" - } - } - }, - "description": "16q24.3(87886394-88066394)x1", + "id": "var_gxWhQIOadILOmcSJKMeFUzJpI", + "label": "16q24.3(87920000-88100000)x1 (hg19)", "geneContext": { "valueId": "HGNC:21316", "symbol": "ANKRD11" }, + "moleculeContext": "genomic", "structuralType": { "id": "SO:1000029", "label": "chromosomal_deletion" @@ -177,8 +103,8 @@ } ], "metaData": { - "created": "2023-09-15T19:23:49.837050914Z", - "createdBy": "ORCID:0000-0003-2598-6622", + "created": "2023-11-25T12:07:38.330536842Z", + "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { "id": "geno", @@ -204,15 +130,30 @@ "namespacePrefix": "OMIM", "iriPrefix": "https://www.omim.org/entry/" }, + { + "id": "so", + "name": "Sequence types and features ontology", + "url": "http://purl.obolibrary.org/obo/so.obo", + "version": "2021-11-22", + "namespacePrefix": "SO", + "iriPrefix": "http://purl.obolibrary.org/obo/SO_" + }, { "id": "hp", "name": "human phenotype ontology", "url": "http://purl.obolibrary.org/obo/hp.owl", - "version": "2023-01-27", + "version": "2023-10-09", "namespacePrefix": "HP", "iriPrefix": "http://purl.obolibrary.org/obo/HP_" } ], - "phenopacketSchemaVersion": "2.0" + "phenopacketSchemaVersion": "2.0", + "externalReferences": [ + { + "id": "PMID:36446582", + "reference": "https://pubmed.ncbi.nlm.nih.gov/36446582", + "description": "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients" + } + ] } } \ No newline at end of file