annotate test-data/EGAF00005572896.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
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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": "P0130406",
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
parents:
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5 "id": "P0130406",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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6 "dateOfBirth": "2019-01-01T00:00:00Z",
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:0000467",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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13 "label": "Neck muscle weakness"
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:0005684",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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19 "label": "Distal arthrogryposis"
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
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23 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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24 "id": "HP:0008936",
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": "Muscular hypotonia of the trunk"
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 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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30 "id": "HP:0003202",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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31 "label": "Skeletal muscle atrophy"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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32 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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33 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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34 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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35 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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36 "id": "HP:0001319",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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37 "label": "Neonatal hypotonia"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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38 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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39 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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40 ],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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41 "diseases": [
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
parents:
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43 "term": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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44 "id": "Orphanet:97245",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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45 "label": "Congenital myopathy"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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46 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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47 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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48 ],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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49 "genes": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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50 "variants": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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51 "meta_data": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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52 "created": "2021-04-21T09:50:13.849Z",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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53 "resources": [
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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54 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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55 "id": "hp",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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56 "name": "Human Phenotype Ontology",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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57 "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
parents:
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58 "version": "2020-12-07",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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59 "namespacePrefix": "HP",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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60 "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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61 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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62 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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63 "id": "orphanet",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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64 "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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65 "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
parents:
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66 "version": "3.1",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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67 "namespacePrefix": "Orphanet",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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68 "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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69 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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70 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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71 "id": "hgnc",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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72 "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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73 "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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74 "version": "2021-01-13",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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75 "namespacePrefix": "HGNC",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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76 "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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77 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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78 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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79 "id": "mim",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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80 "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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81 "url": "https://omim.org/",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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82 "version": "2021-01-21",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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83 "namespacePrefix": "OMIM",
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iuc
parents:
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84 "iriPrefix": "https://omim.org/entry/"
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iuc
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85 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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 }
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iuc
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88 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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89 "interpretation": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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90 "id": "P0130406",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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91 "resolutionStatus": "UNSOLVED",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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92 "phenopacket": {
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iuc
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93 "id": "P0130406",
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iuc
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94 "subject": {
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iuc
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95 "id": "P0130406",
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iuc
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96 "dateOfBirth": "2019-01-01T00:00:00Z",
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iuc
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97 "sex": "MALE"
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diff changeset
98 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
99 "phenotypicFeatures": [
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
100 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
101 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
102 "id": "HP:0000467",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
103 "label": "Neck muscle weakness"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
104 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
105 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
106 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
107 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
108 "id": "HP:0005684",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
109 "label": "Distal arthrogryposis"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
110 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
111 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
112 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
113 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
114 "id": "HP:0008936",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
115 "label": "Muscular hypotonia of the trunk"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
116 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
117 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
118 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
119 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
120 "id": "HP:0003202",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
121 "label": "Skeletal muscle atrophy"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
122 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
123 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
124 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
125 "type": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
126 "id": "HP:0001319",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
127 "label": "Neonatal hypotonia"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
128 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
129 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
130 ],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
131 "diseases": [
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
132 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
133 "term": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
134 "id": "Orphanet:97245",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
135 "label": "Congenital myopathy"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
136 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
137 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
138 ],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
139 "genes": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
140 "variants": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
141 "meta_data": {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
142 "created": "2021-04-21T09:50:13.849Z",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
143 "resources": [
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
144 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
145 "id": "hp",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
146 "name": "Human Phenotype Ontology",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
147 "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
parents:
diff changeset
148 "version": "2020-12-07",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
149 "namespacePrefix": "HP",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
150 "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
parents:
diff changeset
151 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
152 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
153 "id": "orphanet",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
154 "name": "Orphanet Rare Disease Ontology",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
155 "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
parents:
diff changeset
156 "version": "3.1",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
157 "namespacePrefix": "Orphanet",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
158 "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
parents:
diff changeset
159 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
160 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
161 "id": "hgnc",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
162 "name": "HUGO Gene Nomenclature Committee",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
163 "url": "https://www.genenames.org",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
164 "version": "2021-01-13",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
165 "namespacePrefix": "HGNC",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
166 "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
parents:
diff changeset
167 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
168 {
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
169 "id": "mim",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
170 "name": "Online Mendelian Inheritance in Man",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
171 "url": "https://omim.org/",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
172 "version": "2021-01-21",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
173 "namespacePrefix": "OMIM",
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
174 "iriPrefix": "https://omim.org/entry/"
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
175 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
176 ]
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
177 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
178 },
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
179 "diagnosis": [],
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
180 "meta_data": {}
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
181 }
4509627e6ee1 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
182 }