annotate test-data/EGAF00005572727.json @ 1:89cbbb7821b0 draft default tip

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit eecd43b81a8c9f2175c50a71ae85ce9185a9d3a7
author iuc
date Tue, 16 Apr 2024 09:27:40 +0000
parents ba4ed464f8b6
children
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ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
1 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
2 "phenopacket": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
3 "id": "P0007498",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
4 "subject": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
5 "id": "P0007498",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
6 "dateOfBirth": "2013-01-01T00:00:00Z",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
7 "sex": "MALE"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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8 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
9 "phenotypicFeatures": [
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
10 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
11 "negated": true,
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
12 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
13 "id": "HP:0001249",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
14 "label": "Intellectual disability"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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15 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
16 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
17 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
18 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
19 "id": "HP:0000467",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
20 "label": "Neck muscle weakness"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
21 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
22 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
23 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
24 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
25 "id": "HP:0001252",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
26 "label": "Muscular hypotonia"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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27 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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28 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
29 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
30 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
31 "id": "HP:0001319",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
32 "label": "Neonatal hypotonia"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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33 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
34 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
35 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
36 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
37 "id": "HP:0001374",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
38 "label": "Congenital hip dislocation"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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39 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
40 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
41 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
42 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
43 "id": "HP:0002540",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
44 "label": "Inability to walk"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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45 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
46 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
47 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
48 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
49 "id": "HP:0002783",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
50 "label": "Recurrent lower respiratory tract infections"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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51 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
52 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
53 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
54 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
55 "id": "HP:0002804",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
56 "label": "Arthrogryposis multiplex congenita"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
57 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
58 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
59 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
60 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
61 "id": "HP:0003202",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
62 "label": "Skeletal muscle atrophy"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
63 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
64 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
65 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
66 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
67 "id": "HP:0005684",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
68 "label": "Distal arthrogryposis"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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69 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
70 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
71 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
72 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
73 "id": "HP:0030319",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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74 "label": "Weakness of facial musculature"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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75 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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76 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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77 ],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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78 "diseases": [
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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79 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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80 "term": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
81 "id": "Orphanet:97245",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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82 "label": "Congenital myopathy"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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83 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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84 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
85 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
86 "term": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
87 "id": "OMIM:117000",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
88 "label": "CENTRAL CORE DISEASE OF MUSCLE"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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89 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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90 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
91 ],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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92 "genes": [],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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93 "variants": [],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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94 "meta_data": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
95 "created": "2021-04-21T09:32:38.488Z",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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96 "resources": [
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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97 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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98 "id": "hp",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
99 "name": "Human Phenotype Ontology",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
100 "url": "http://purl.obolibrary.org/obo/hp.owl",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
101 "version": "2020-12-07",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
102 "namespacePrefix": "HP",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
103 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
104 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
105 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
106 "id": "orphanet",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
107 "name": "Orphanet Rare Disease Ontology",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
108 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
109 "version": "3.1",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
110 "namespacePrefix": "Orphanet",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
111 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
112 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
113 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
114 "id": "hgnc",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
115 "name": "HUGO Gene Nomenclature Committee",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
116 "url": "https://www.genenames.org",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
117 "version": "2021-01-13",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
118 "namespacePrefix": "HGNC",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
119 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
120 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
121 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
122 "id": "mim",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
123 "name": "Online Mendelian Inheritance in Man",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
124 "url": "https://omim.org/",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
125 "version": "2021-01-21",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
126 "namespacePrefix": "OMIM",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
127 "iriPrefix": "https://omim.org/entry/"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
128 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
129 ]
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
130 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
131 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
132 "interpretation": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
133 "id": "P0007498",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
134 "resolutionStatus": "SOLVED",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
135 "phenopacket": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
136 "id": "P0007498",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
137 "subject": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
138 "id": "P0007498",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
139 "dateOfBirth": "2013-01-01T00:00:00Z",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
140 "sex": "MALE"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
141 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
142 "phenotypicFeatures": [
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
143 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
144 "negated": true,
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
145 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
146 "id": "HP:0001249",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
147 "label": "Intellectual disability"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
148 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
149 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
150 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
151 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
152 "id": "HP:0000467",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
153 "label": "Neck muscle weakness"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
154 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
155 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
156 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
157 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
158 "id": "HP:0001252",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
159 "label": "Muscular hypotonia"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
160 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
161 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
162 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
163 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
164 "id": "HP:0001319",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
165 "label": "Neonatal hypotonia"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
166 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
167 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
168 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
169 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
170 "id": "HP:0001374",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
171 "label": "Congenital hip dislocation"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
172 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
173 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
174 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
175 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
176 "id": "HP:0002540",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
177 "label": "Inability to walk"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
178 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
179 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
180 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
181 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
182 "id": "HP:0002783",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
183 "label": "Recurrent lower respiratory tract infections"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
184 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
185 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
186 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
187 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
188 "id": "HP:0002804",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
189 "label": "Arthrogryposis multiplex congenita"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
190 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
191 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
192 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
193 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
194 "id": "HP:0003202",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
195 "label": "Skeletal muscle atrophy"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
196 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
197 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
198 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
199 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
200 "id": "HP:0005684",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
201 "label": "Distal arthrogryposis"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
202 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
203 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
204 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
205 "type": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
206 "id": "HP:0030319",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
207 "label": "Weakness of facial musculature"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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208 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
209 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
210 ],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
211 "diseases": [
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
212 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
213 "term": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
214 "id": "Orphanet:97245",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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215 "label": "Congenital myopathy"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
216 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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diff changeset
217 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
218 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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219 "term": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
220 "id": "OMIM:117000",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
221 "label": "CENTRAL CORE DISEASE OF MUSCLE"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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222 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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223 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
224 ],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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225 "genes": [],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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226 "variants": [],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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227 "meta_data": {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
228 "created": "2021-04-21T09:32:38.488Z",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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229 "resources": [
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
230 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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231 "id": "hp",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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232 "name": "Human Phenotype Ontology",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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233 "url": "http://purl.obolibrary.org/obo/hp.owl",
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iuc
parents:
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234 "version": "2020-12-07",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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235 "namespacePrefix": "HP",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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236 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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237 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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238 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
239 "id": "orphanet",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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240 "name": "Orphanet Rare Disease Ontology",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
241 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
242 "version": "3.1",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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243 "namespacePrefix": "Orphanet",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
244 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
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iuc
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245 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
246 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
diff changeset
247 "id": "hgnc",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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248 "name": "HUGO Gene Nomenclature Committee",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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249 "url": "https://www.genenames.org",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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250 "version": "2021-01-13",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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251 "namespacePrefix": "HGNC",
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iuc
parents:
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252 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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253 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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254 {
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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255 "id": "mim",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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256 "name": "Online Mendelian Inheritance in Man",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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257 "url": "https://omim.org/",
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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258 "version": "2021-01-21",
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iuc
parents:
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259 "namespacePrefix": "OMIM",
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iuc
parents:
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260 "iriPrefix": "https://omim.org/entry/"
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iuc
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261 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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262 ]
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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263 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
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264 },
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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265 "diagnosis": [],
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
iuc
parents:
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266 "meta_data": {}
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iuc
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267 }
ba4ed464f8b6 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
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268 }