Mercurial > repos > iuc > beacon2_pxf2bff
annotate test-data/EGAF00005572753.json @ 1:23449c685168 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit eecd43b81a8c9f2175c50a71ae85ce9185a9d3a7
author | iuc |
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date | Tue, 16 Apr 2024 09:27:25 +0000 |
parents | 30605b5fc43f |
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rev | line source |
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0
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
1 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
2 "phenopacket": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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3 "id": "P0007503", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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4 "subject": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
5 "id": "P0007503", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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6 "dateOfBirth": "unknown-01-01T00:00:00Z", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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7 "sex": "FEMALE" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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8 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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9 "phenotypicFeatures": [ |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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10 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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11 "type": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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12 "id": "HP:0000529", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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13 "label": "Progressive visual loss" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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14 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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15 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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16 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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17 "type": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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18 "id": "HP:0000575", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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19 "label": "Scotoma" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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20 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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21 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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22 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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23 "type": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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24 "id": "HP:0007703", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
25 "label": "Abnormality of retinal pigmentation" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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26 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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27 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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28 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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29 "type": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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30 "id": "HP:0008002", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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31 "label": "Abnormality of macular pigmentation" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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32 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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33 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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34 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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35 "type": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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36 "id": "HP:0012508", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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37 "label": "Metamorphopsia" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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38 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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39 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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40 ], |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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41 "diseases": [], |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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42 "genes": [], |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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43 "variants": [], |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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44 "meta_data": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
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45 "created": "2021-04-21T09:39:45.571Z", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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46 "resources": [ |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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47 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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48 "id": "hp", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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49 "name": "Human Phenotype Ontology", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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50 "url": "http://purl.obolibrary.org/obo/hp.owl", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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51 "version": "2020-12-07", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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52 "namespacePrefix": "HP", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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53 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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54 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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55 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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56 "id": "orphanet", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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57 "name": "Orphanet Rare Disease Ontology", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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58 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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59 "version": "3.1", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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60 "namespacePrefix": "Orphanet", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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61 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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62 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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63 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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64 "id": "hgnc", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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65 "name": "HUGO Gene Nomenclature Committee", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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66 "url": "https://www.genenames.org", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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67 "version": "2021-01-13", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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68 "namespacePrefix": "HGNC", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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69 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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70 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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71 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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72 "id": "mim", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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73 "name": "Online Mendelian Inheritance in Man", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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74 "url": "https://omim.org/", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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75 "version": "2021-01-21", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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76 "namespacePrefix": "OMIM", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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77 "iriPrefix": "https://omim.org/entry/" |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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78 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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79 ] |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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80 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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81 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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82 "interpretation": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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83 "id": "P0007503", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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84 "resolutionStatus": "UNSOLVED", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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85 "phenopacket": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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86 "id": "P0007503", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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87 "subject": { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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88 "id": "P0007503", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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89 "dateOfBirth": "unknown-01-01T00:00:00Z", |
30605b5fc43f
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iuc
parents:
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changeset
|
90 "sex": "FEMALE" |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
91 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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|
92 "phenotypicFeatures": [ |
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iuc
parents:
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changeset
|
93 { |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
94 "type": { |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
95 "id": "HP:0000529", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
96 "label": "Progressive visual loss" |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
97 } |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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changeset
|
98 }, |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
99 { |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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|
100 "type": { |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
101 "id": "HP:0000575", |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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102 "label": "Scotoma" |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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|
103 } |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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changeset
|
104 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
105 { |
30605b5fc43f
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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106 "type": { |
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iuc
parents:
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changeset
|
107 "id": "HP:0007703", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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|
108 "label": "Abnormality of retinal pigmentation" |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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109 } |
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iuc
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110 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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111 { |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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112 "type": { |
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iuc
parents:
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changeset
|
113 "id": "HP:0008002", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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|
114 "label": "Abnormality of macular pigmentation" |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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115 } |
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iuc
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116 }, |
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iuc
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|
117 { |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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118 "type": { |
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iuc
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119 "id": "HP:0012508", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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120 "label": "Metamorphopsia" |
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iuc
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|
121 } |
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iuc
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|
122 } |
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iuc
parents:
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changeset
|
123 ], |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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|
124 "diseases": [], |
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iuc
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125 "genes": [], |
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iuc
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126 "variants": [], |
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iuc
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127 "meta_data": { |
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iuc
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128 "created": "2021-04-21T09:39:45.571Z", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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129 "resources": [ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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130 { |
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iuc
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131 "id": "hp", |
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iuc
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132 "name": "Human Phenotype Ontology", |
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iuc
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133 "url": "http://purl.obolibrary.org/obo/hp.owl", |
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iuc
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134 "version": "2020-12-07", |
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iuc
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|
135 "namespacePrefix": "HP", |
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iuc
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|
136 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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137 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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138 { |
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iuc
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139 "id": "orphanet", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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140 "name": "Orphanet Rare Disease Ontology", |
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iuc
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141 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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142 "version": "3.1", |
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iuc
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|
143 "namespacePrefix": "Orphanet", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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144 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" |
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iuc
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145 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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146 { |
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iuc
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147 "id": "hgnc", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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148 "name": "HUGO Gene Nomenclature Committee", |
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iuc
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149 "url": "https://www.genenames.org", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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150 "version": "2021-01-13", |
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iuc
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151 "namespacePrefix": "HGNC", |
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iuc
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152 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" |
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iuc
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153 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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154 { |
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iuc
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155 "id": "mim", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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156 "name": "Online Mendelian Inheritance in Man", |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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157 "url": "https://omim.org/", |
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iuc
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158 "version": "2021-01-21", |
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iuc
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159 "namespacePrefix": "OMIM", |
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iuc
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160 "iriPrefix": "https://omim.org/entry/" |
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iuc
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161 } |
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iuc
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|
162 ] |
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iuc
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|
163 } |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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164 }, |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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165 "diagnosis": [], |
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iuc
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166 "meta_data": {} |
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iuc
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changeset
|
167 } |
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iuc
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|
168 } |