Mercurial > repos > iuc > beacon2_csv2xlsx

comparison test-data/EGAF00005572747.json @ 0:ba4ed464f8b6 draft

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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
author iuc
date Sun, 01 Oct 2023 16:30:46 +0000
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-1:000000000000 0:ba4ed464f8b6
1 {
2 "phenopacket": {
3 "id": "P0007501",
4 "subject": {
5 "id": "P0007501",
6 "dateOfBirth": "1980-01-01T00:00:00Z",
7 "sex": "MALE"
8 },
9 "phenotypicFeatures": [
10 {
11 "type": {
12 "id": "HP:0007663",
13 "label": "Reduced visual acuity"
14 }
15 },
16 {
17 "type": {
18 "id": "HP:0007703",
19 "label": "Abnormality of retinal pigmentation"
20 }
21 },
22 {
23 "type": {
24 "id": "HP:0007722",
25 "label": "Retinal pigment epithelial atrophy"
26 }
27 }
28 ],
29 "diseases": [],
30 "genes": [],
31 "variants": [],
32 "meta_data": {
33 "created": "2021-04-21T09:38:19.980Z",
34 "resources": [
35 {
36 "id": "hp",
37 "name": "Human Phenotype Ontology",
38 "url": "http://purl.obolibrary.org/obo/hp.owl",
39 "version": "2020-12-07",
40 "namespacePrefix": "HP",
41 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
42 },
43 {
44 "id": "orphanet",
45 "name": "Orphanet Rare Disease Ontology",
46 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
47 "version": "3.1",
48 "namespacePrefix": "Orphanet",
49 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
50 },
51 {
52 "id": "hgnc",
53 "name": "HUGO Gene Nomenclature Committee",
54 "url": "https://www.genenames.org",
55 "version": "2021-01-13",
56 "namespacePrefix": "HGNC",
57 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
58 },
59 {
60 "id": "mim",
61 "name": "Online Mendelian Inheritance in Man",
62 "url": "https://omim.org/",
63 "version": "2021-01-21",
64 "namespacePrefix": "OMIM",
65 "iriPrefix": "https://omim.org/entry/"
66 }
67 ]
68 }
69 },
70 "interpretation": {
71 "id": "P0007501",
72 "resolutionStatus": "SOLVED",
73 "phenopacket": {
74 "id": "P0007501",
75 "subject": {
76 "id": "P0007501",
77 "dateOfBirth": "1980-01-01T00:00:00Z",
78 "sex": "MALE"
79 },
80 "phenotypicFeatures": [
81 {
82 "type": {
83 "id": "HP:0007663",
84 "label": "Reduced visual acuity"
85 }
86 },
87 {
88 "type": {
89 "id": "HP:0007703",
90 "label": "Abnormality of retinal pigmentation"
91 }
92 },
93 {
94 "type": {
95 "id": "HP:0007722",
96 "label": "Retinal pigment epithelial atrophy"
97 }
98 }
99 ],
100 "diseases": [],
101 "genes": [],
102 "variants": [],
103 "meta_data": {
104 "created": "2021-04-21T09:38:19.980Z",
105 "resources": [
106 {
107 "id": "hp",
108 "name": "Human Phenotype Ontology",
109 "url": "http://purl.obolibrary.org/obo/hp.owl",
110 "version": "2020-12-07",
111 "namespacePrefix": "HP",
112 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
113 },
114 {
115 "id": "orphanet",
116 "name": "Orphanet Rare Disease Ontology",
117 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
118 "version": "3.1",
119 "namespacePrefix": "Orphanet",
120 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
121 },
122 {
123 "id": "hgnc",
124 "name": "HUGO Gene Nomenclature Committee",
125 "url": "https://www.genenames.org",
126 "version": "2021-01-13",
127 "namespacePrefix": "HGNC",
128 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
129 },
130 {
131 "id": "mim",
132 "name": "Online Mendelian Inheritance in Man",
133 "url": "https://omim.org/",
134 "version": "2021-01-21",
135 "namespacePrefix": "OMIM",
136 "iriPrefix": "https://omim.org/entry/"
137 }
138 ]
139 }
140 },
141 "diagnosis": [],
142 "meta_data": {}
143 }
144 }