Mercurial > repos > iuc > beacon2_csv2xlsx

comparison test-data/EGAF00005572762.json @ 0:4509627e6ee1 draft default tip

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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 16:29:22 +0000
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-1:000000000000 0:4509627e6ee1
1 {
2 "phenopacket": {
3 "id": "P0007504",
4 "subject": {
5 "id": "P0007504",
6 "dateOfBirth": "2002-01-01T00:00:00Z",
7 "sex": "MALE"
8 },
9 "phenotypicFeatures": [
10 {
11 "negated": true,
12 "type": {
13 "id": "HP:0003236",
14 "label": "Elevated serum creatine phosphokinase"
15 }
16 },
17 {
18 "type": {
19 "id": "HP:0001324",
20 "label": "Muscle weakness"
21 }
22 },
23 {
24 "type": {
25 "id": "HP:0003326",
26 "label": "Myalgia"
27 }
28 },
29 {
30 "type": {
31 "id": "HP:0003560",
32 "label": "Muscular dystrophy"
33 }
34 },
35 {
36 "type": {
37 "id": "HP:0009050",
38 "label": "Quadriceps muscle atrophy"
39 }
40 }
41 ],
42 "diseases": [],
43 "genes": [],
44 "variants": [],
45 "meta_data": {
46 "created": "2021-04-21T09:40:31.348Z",
47 "resources": [
48 {
49 "id": "hp",
50 "name": "Human Phenotype Ontology",
51 "url": "http://purl.obolibrary.org/obo/hp.owl",
52 "version": "2020-12-07",
53 "namespacePrefix": "HP",
54 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
55 },
56 {
57 "id": "orphanet",
58 "name": "Orphanet Rare Disease Ontology",
59 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
60 "version": "3.1",
61 "namespacePrefix": "Orphanet",
62 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
63 },
64 {
65 "id": "hgnc",
66 "name": "HUGO Gene Nomenclature Committee",
67 "url": "https://www.genenames.org",
68 "version": "2021-01-13",
69 "namespacePrefix": "HGNC",
70 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
71 },
72 {
73 "id": "mim",
74 "name": "Online Mendelian Inheritance in Man",
75 "url": "https://omim.org/",
76 "version": "2021-01-21",
77 "namespacePrefix": "OMIM",
78 "iriPrefix": "https://omim.org/entry/"
79 }
80 ]
81 }
82 },
83 "interpretation": {
84 "id": "P0007504",
85 "resolutionStatus": "UNSOLVED",
86 "phenopacket": {
87 "id": "P0007504",
88 "subject": {
89 "id": "P0007504",
90 "dateOfBirth": "2002-01-01T00:00:00Z",
91 "sex": "MALE"
92 },
93 "phenotypicFeatures": [
94 {
95 "negated": true,
96 "type": {
97 "id": "HP:0003236",
98 "label": "Elevated serum creatine phosphokinase"
99 }
100 },
101 {
102 "type": {
103 "id": "HP:0001324",
104 "label": "Muscle weakness"
105 }
106 },
107 {
108 "type": {
109 "id": "HP:0003326",
110 "label": "Myalgia"
111 }
112 },
113 {
114 "type": {
115 "id": "HP:0003560",
116 "label": "Muscular dystrophy"
117 }
118 },
119 {
120 "type": {
121 "id": "HP:0009050",
122 "label": "Quadriceps muscle atrophy"
123 }
124 }
125 ],
126 "diseases": [],
127 "genes": [],
128 "variants": [],
129 "meta_data": {
130 "created": "2021-04-21T09:40:31.348Z",
131 "resources": [
132 {
133 "id": "hp",
134 "name": "Human Phenotype Ontology",
135 "url": "http://purl.obolibrary.org/obo/hp.owl",
136 "version": "2020-12-07",
137 "namespacePrefix": "HP",
138 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
139 },
140 {
141 "id": "orphanet",
142 "name": "Orphanet Rare Disease Ontology",
143 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
144 "version": "3.1",
145 "namespacePrefix": "Orphanet",
146 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
147 },
148 {
149 "id": "hgnc",
150 "name": "HUGO Gene Nomenclature Committee",
151 "url": "https://www.genenames.org",
152 "version": "2021-01-13",
153 "namespacePrefix": "HGNC",
154 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
155 },
156 {
157 "id": "mim",
158 "name": "Online Mendelian Inheritance in Man",
159 "url": "https://omim.org/",
160 "version": "2021-01-21",
161 "namespacePrefix": "OMIM",
162 "iriPrefix": "https://omim.org/entry/"
163 }
164 ]
165 }
166 },
167 "diagnosis": [],
168 "meta_data": {}
169 }
170 }