annotate test-data/EGAF00005572747.json @ 0:4509627e6ee1 draft default tip

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
author iuc
date Sun, 01 Oct 2023 16:29:22 +0000
parents
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4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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1 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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2 "phenopacket": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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3 "id": "P0007501",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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4 "subject": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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5 "id": "P0007501",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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6 "dateOfBirth": "1980-01-01T00:00:00Z",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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7 "sex": "MALE"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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8 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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9 "phenotypicFeatures": [
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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10 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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11 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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12 "id": "HP:0007663",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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13 "label": "Reduced visual acuity"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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14 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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15 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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16 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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17 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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18 "id": "HP:0007703",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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19 "label": "Abnormality of retinal pigmentation"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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20 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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21 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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22 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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23 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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24 "id": "HP:0007722",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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25 "label": "Retinal pigment epithelial atrophy"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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26 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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27 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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28 ],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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29 "diseases": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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30 "genes": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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31 "variants": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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32 "meta_data": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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33 "created": "2021-04-21T09:38:19.980Z",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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34 "resources": [
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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35 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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36 "id": "hp",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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37 "name": "Human Phenotype Ontology",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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38 "url": "http://purl.obolibrary.org/obo/hp.owl",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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39 "version": "2020-12-07",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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40 "namespacePrefix": "HP",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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41 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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42 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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43 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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44 "id": "orphanet",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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45 "name": "Orphanet Rare Disease Ontology",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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46 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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47 "version": "3.1",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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48 "namespacePrefix": "Orphanet",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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49 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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50 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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51 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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52 "id": "hgnc",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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53 "name": "HUGO Gene Nomenclature Committee",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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54 "url": "https://www.genenames.org",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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55 "version": "2021-01-13",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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56 "namespacePrefix": "HGNC",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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57 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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58 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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59 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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60 "id": "mim",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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61 "name": "Online Mendelian Inheritance in Man",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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62 "url": "https://omim.org/",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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63 "version": "2021-01-21",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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64 "namespacePrefix": "OMIM",
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iuc
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65 "iriPrefix": "https://omim.org/entry/"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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66 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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67 ]
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iuc
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68 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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69 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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70 "interpretation": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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71 "id": "P0007501",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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72 "resolutionStatus": "SOLVED",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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73 "phenopacket": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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74 "id": "P0007501",
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iuc
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75 "subject": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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76 "id": "P0007501",
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iuc
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77 "dateOfBirth": "1980-01-01T00:00:00Z",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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78 "sex": "MALE"
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iuc
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79 },
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iuc
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80 "phenotypicFeatures": [
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iuc
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81 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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82 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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83 "id": "HP:0007663",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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84 "label": "Reduced visual acuity"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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85 }
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iuc
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86 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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87 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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88 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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89 "id": "HP:0007703",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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90 "label": "Abnormality of retinal pigmentation"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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91 }
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92 },
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93 {
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iuc
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94 "type": {
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iuc
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95 "id": "HP:0007722",
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iuc
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96 "label": "Retinal pigment epithelial atrophy"
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iuc
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97 }
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98 }
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99 ],
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100 "diseases": [],
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101 "genes": [],
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102 "variants": [],
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103 "meta_data": {
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104 "created": "2021-04-21T09:38:19.980Z",
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iuc
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105 "resources": [
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106 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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107 "id": "hp",
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108 "name": "Human Phenotype Ontology",
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109 "url": "http://purl.obolibrary.org/obo/hp.owl",
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110 "version": "2020-12-07",
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111 "namespacePrefix": "HP",
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112 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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113 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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114 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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115 "id": "orphanet",
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116 "name": "Orphanet Rare Disease Ontology",
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117 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
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118 "version": "3.1",
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119 "namespacePrefix": "Orphanet",
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120 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
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121 },
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122 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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123 "id": "hgnc",
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124 "name": "HUGO Gene Nomenclature Committee",
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125 "url": "https://www.genenames.org",
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126 "version": "2021-01-13",
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127 "namespacePrefix": "HGNC",
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128 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
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129 },
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130 {
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131 "id": "mim",
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132 "name": "Online Mendelian Inheritance in Man",
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133 "url": "https://omim.org/",
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134 "version": "2021-01-21",
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135 "namespacePrefix": "OMIM",
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136 "iriPrefix": "https://omim.org/entry/"
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137 }
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138 ]
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139 }
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140 },
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141 "diagnosis": [],
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142 "meta_data": {}
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143 }
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144 }