Mercurial > repos > iuc > beacon2_csv2xlsx
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 | |
| children |
| rev | line source |
|---|---|
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0
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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1 { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
2 "phenopacket": { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
3 "id": "P0130406", |
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4509627e6ee1
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": { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
5 "id": "P0130406", |
|
4509627e6ee1
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": "2019-01-01T00:00:00Z", |
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4509627e6ee1
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": "MALE" |
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4509627e6ee1
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 }, |
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4509627e6ee1
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": [ |
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4509627e6ee1
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 { |
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4509627e6ee1
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": { |
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4509627e6ee1
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:0000467", |
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4509627e6ee1
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": "Neck muscle weakness" |
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4509627e6ee1
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 } |
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4509627e6ee1
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 }, |
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4509627e6ee1
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 { |
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4509627e6ee1
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": { |
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4509627e6ee1
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:0005684", |
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4509627e6ee1
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": "Distal arthrogryposis" |
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4509627e6ee1
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 } |
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4509627e6ee1
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 }, |
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4509627e6ee1
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 { |
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4509627e6ee1
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": { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
24 "id": "HP:0008936", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
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
parents:
diff
changeset
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26 } |
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4509627e6ee1
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 }, |
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4509627e6ee1
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 { |
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4509627e6ee1
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": { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
30 "id": "HP:0003202", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
31 "label": "Skeletal muscle atrophy" |
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4509627e6ee1
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 } |
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4509627e6ee1
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 }, |
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4509627e6ee1
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 { |
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4509627e6ee1
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": { |
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4509627e6ee1
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:0001319", |
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4509627e6ee1
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": "Neonatal hypotonia" |
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4509627e6ee1
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 } |
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4509627e6ee1
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 } |
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4509627e6ee1
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 ], |
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4509627e6ee1
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": [ |
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4509627e6ee1
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 { |
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4509627e6ee1
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 "term": { |
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4509627e6ee1
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 "id": "Orphanet:97245", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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45 "label": "Congenital myopathy" |
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4509627e6ee1
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 } |
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4509627e6ee1
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 } |
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4509627e6ee1
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 ], |
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4509627e6ee1
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 "genes": [], |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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50 "variants": [], |
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4509627e6ee1
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 "meta_data": { |
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4509627e6ee1
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 "created": "2021-04-21T09:50:13.849Z", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
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53 "resources": [ |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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54 { |
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4509627e6ee1
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 "id": "hp", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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56 "name": "Human Phenotype Ontology", |
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4509627e6ee1
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 "url": "http://purl.obolibrary.org/obo/hp.owl", |
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4509627e6ee1
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 "version": "2020-12-07", |
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4509627e6ee1
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 "namespacePrefix": "HP", |
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4509627e6ee1
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 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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61 }, |
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4509627e6ee1
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 { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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63 "id": "orphanet", |
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4509627e6ee1
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 "name": "Orphanet Rare Disease Ontology", |
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4509627e6ee1
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 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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66 "version": "3.1", |
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4509627e6ee1
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 "namespacePrefix": "Orphanet", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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68 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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69 }, |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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70 { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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71 "id": "hgnc", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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72 "name": "HUGO Gene Nomenclature Committee", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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73 "url": "https://www.genenames.org", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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74 "version": "2021-01-13", |
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4509627e6ee1
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 "namespacePrefix": "HGNC", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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76 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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77 }, |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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78 { |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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79 "id": "mim", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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80 "name": "Online Mendelian Inheritance in Man", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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81 "url": "https://omim.org/", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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82 "version": "2021-01-21", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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83 "namespacePrefix": "OMIM", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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84 "iriPrefix": "https://omim.org/entry/" |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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85 } |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
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86 ] |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
87 } |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
88 }, |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
89 "interpretation": { |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
90 "id": "P0130406", |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
91 "resolutionStatus": "UNSOLVED", |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
92 "phenopacket": { |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
93 "id": "P0130406", |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
94 "subject": { |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
95 "id": "P0130406", |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
96 "dateOfBirth": "2019-01-01T00:00:00Z", |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff
changeset
|
97 "sex": "MALE" |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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:
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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:
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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:
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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:
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|
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:
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changeset
|
127 "label": "Neonatal hypotonia" |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
128 } |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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|
129 } |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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|
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
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132 { |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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|
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:
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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:
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|
139 "genes": [], |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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|
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:
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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
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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:
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|
146 "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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|
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
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|
148 "version": "2020-12-07", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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changeset
|
149 "namespacePrefix": "HP", |
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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
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|
151 }, |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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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:
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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:
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changeset
|
156 "version": "3.1", |
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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:
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|
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", |
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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:
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changeset
|
167 }, |
|
4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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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", |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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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:
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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", |
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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/" |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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175 } |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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176 ] |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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177 } |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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178 }, |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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179 "diagnosis": [], |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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180 "meta_data": {} |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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181 } |
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4509627e6ee1
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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182 } |
